# annotation

uniprotID: Q8N690
geneSymbol: DEFB119
reactome: R-HSA-1461957;R-HSA-1461973;
sequence: MKLLYLFLAILLAIEEPVISGKRHILRCMGNSGICRASCKKNEQPYLYCRNCQSCCLQSYMRISISGKEENTDWSYEKQWPRLP
length: 84
go: ENSG00000180483;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Beta-defensin 119 (Beta-defensin 120) (Beta-defensin 19) (DEFB-19) (Beta-defensin 20) (DEFB-20) (Defensin, beta 119) (Defensin, beta 120) (ESC42-RELA)

opentargets:
extracellular region [GO:0005576]; lipopolysaccharide binding [GO:0001530]; antifungal innate immune response [GO:0061760]; defense response to bacterium [GO:0042742]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; innate immune response [GO:0045087]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N690-1; Sequence=Displayed; Name=2; IsoId=Q8N690-2; Sequence=VSP_029871; Name=3; Synonyms=b; IsoId=Q8N690-3; Sequence=VSP_043188; Note=Abundantly expressed in testis.; 


uniprotID: Q9NR90
geneSymbol: DAZ3
name: Deleted in azoospermia protein 3
length: 486
go: ENSG00000187191;
sequence:

opentargets:
cytoplasm [GO:0005737]; intracellular [GO:0005622]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; mRNA 3'-UTR binding [GO:0003730]; translation activator activity [GO:0008494]; germ cell development [GO:0007281]; multicellular organism development [GO:0007275]; positive regulation of translational initiation [GO:0045948]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NR90-1; Sequence=Displayed; Name=2; IsoId=Q9NR90-2; Sequence=VSP_040218; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11058556}. Nucleus {ECO:0000269|PubMed:11058556}. Note=Predominantly cytoplasmic. Nuclear at some stages of spermatozoide development. Localizes both to the nuclei and cytoplasm of spermatozoide differentiation. Nuclear in fetal gonocytes and in spermatogonial nuclei. It then relocates to the cytoplasm during male meiosis.


uniprotID: P09622
geneSymbol: DLD
pdb: 1ZMC;1ZMD;1ZY8;2F5Z;3RNM;5J5Z;5NHG;
length: 509
go: ENSG00000091140;
drug: DB03147;DB00157;
reactome:
R-HSA-204174;R-HSA-389661;R-HSA-5362517;R-HSA-6783984;R-HSA-70268;R-HSA-70895;R-HSA-71064;R-HSA-71403;

name:
Dihydrolipoyl dehydrogenase, mitochondrial (EC 1.8.1.4) (Dihydrolipoamide dehydrogenase) (Glycine cleavage system L protein)

sequence:

opentargets:
acrosomal matrix [GO:0043159]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; motile cilium [GO:0031514]; myelin sheath [GO:0043209]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; oxoglutarate dehydrogenase complex [GO:0045252]; pyruvate dehydrogenase complex [GO:0045254]; dihydrolipoyl dehydrogenase activity [GO:0004148]; electron transfer activity [GO:0009055]; flavin adenine dinucleotide binding [GO:0050660]; lipoamide binding [GO:0043544]; NAD binding [GO:0051287]; 2-oxoglutarate metabolic process [GO:0006103]; aging [GO:0007568]; cell redox homeostasis [GO:0045454]; dihydrolipoamide metabolic process [GO:0051068]; gastrulation [GO:0007369]; histone succinylation [GO:0106077]; lipoate metabolic process [GO:0009106]; mitochondrial acetyl-CoA biosynthetic process from pyruvate [GO:0061732]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; proteolysis [GO:0006508]; regulation of membrane potential [GO:0042391]; sperm capacitation [GO:0048240]

snps:
rs397514651 rs121964987 rs1130477 rs121964990 rs17624 rs121964993 rs121964992 rs121964991 rs397514649 rs397514650 rs121964988 rs121964989 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P09622-1; Sequence=Displayed; Name=2; IsoId=P09622-2; Sequence=VSP_055855; Note=No experimental confirmation available.; Name=3; IsoId=P09622-3; Sequence=VSP_055856; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000305|PubMed:29211711, ECO:0000305|PubMed:3693355}. Nucleus {ECO:0000269|PubMed:29211711}. Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:Q811C4}. Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000269|PubMed:15888450}. Note=Mainly localizes in the mitochondrion. A small fraction localizes to the nucleus, where the 2-oxoglutarate dehydrogenase complex is required for histone succinylation. {ECO:0000269|PubMed:29211711}.


uniprotID: Q9P1A6
geneSymbol: DLGAP2
reactome: R-HSA-6794361;
length: 1054
go: ENSG00000198010;
snps: rs2301963 rs7463888
name:
Disks large-associated protein 2 (DAP-2) (PSD-95/SAP90-binding protein 2) (SAP90/PSD-95-associated protein 2) (SAPAP2)

sequence:

opentargets:
cell junction [GO:0030054]; neurofilament [GO:0005883]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; neuron-neuron synaptic transmission [GO:0007270]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9P1A6-1; Sequence=Displayed; Name=2; IsoId=Q9P1A6-2; Sequence=VSP_006012; Name=3; IsoId=Q9P1A6-3; Sequence=VSP_006011; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Note=Postsynaptic density of neuronal cells. {ECO:0000250}.


uniprotID: Q15398
geneSymbol: DLGAP5
reactome: R-HSA-9013508;
length: 846
go: ENSG00000126787;
snps: rs2274271 rs8010791 rs17128275 rs35954941
name:
Disks large-associated protein 5 (DAP-5) (Discs large homolog 7) (Disks large-associated protein DLG7) (Hepatoma up-regulated protein) (HURP)

sequence:

opentargets:
cytosol [GO:0005829]; microtubule organizing center [GO:0005815]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; spindle pole centrosome [GO:0031616]; phosphoprotein phosphatase activity [GO:0004721]; cell proliferation [GO:0008283]; mitotic chromosome movement towards spindle pole [GO:0007079]; positive regulation of mitotic metaphase/anaphase transition [GO:0045842]; positive regulation of transcription of Notch receptor target [GO:0007221]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q15398-2; Sequence=Displayed; Name=2; IsoId=Q15398-1; Sequence=VSP_015550; Note=No experimental confirmation available.; Name=3; IsoId=Q15398-3; Sequence=VSP_045341; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Cytoplasm, cytoskeleton, spindle. Note=Localizes to the spindle in mitotic cells. Colocalizes with CDH1 at sites of cell-cell contact in intestinal epithelial cells.


uniprotID: Q9NP97
geneSymbol: DYNLRB1
reactome: R-HSA-5620924;
pdb: 1Z09;2B95;2E8J;2HZ5;6F1T;6F1Z;6F38;6F3A;
sequence: MAEVEETLKRLQSQKGVQGIIVVNTEGIPIKSTMDNPTTTQYASLMHSFILKARSTVRDIDPQNDLTFLRIRSKKNEIMVAPDKDYFLIVIQNPTE
length: 96
go: ENSG00000125971;
snps: rs1063616 rs10036
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
name:
Dynein light chain roadblock-type 1 (Bithoraxoid-like protein) (BLP) (Dynein light chain 2A, cytoplasmic) (Dynein-associated protein Km23) (Roadblock domain-containing protein 1)

opentargets:
centrosome [GO:0005813]; ciliary tip [GO:0097542]; cilium [GO:0005929]; cytoplasm [GO:0005737]; cytoplasmic dynein complex [GO:0005868]; membrane [GO:0016020]; microtubule [GO:0005874]; outer dynein arm [GO:0036157]; dynein intermediate chain binding [GO:0045505]; microtubule motor activity [GO:0003777]; intraciliary transport involved in cilium assembly [GO:0035735]; microtubule-based movement [GO:0007018]; visual behavior [GO:0007632]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q9NP97-1; Sequence=Displayed; Name=2; IsoId=Q9NP97-2; Sequence=VSP_007236, VSP_007237; Note=May result from the retention of an intron in the cDNA.; 


uniprotID: Q9NPF5
geneSymbol: DMAP1
reactome: R-HSA-3214847;
pdb: 3HM5;4IEJ;
name: DNA methyltransferase 1-associated protein 1 (DNMAP1) (DNMT1-associated protein 1)
length: 467
go: ENSG00000178028;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; NuA4 histone acetyltransferase complex [GO:0035267]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; replication fork [GO:0005657]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II repressing transcription factor binding [GO:0001103]; transcription corepressor activity [GO:0003714]; chromatin remodeling [GO:0006338]; DNA methylation [GO:0006306]; DNA repair [GO:0006281]; histone H2A acetylation [GO:0043968]; histone H4 acetylation [GO:0043967]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of protein import into nucleus [GO:0042307]; regulation of growth [GO:0040008]; response to ethanol [GO:0045471]

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Targeted to replication foci throughout S phase by DNMT1.


uniprotID: Q5VZB9
geneSymbol: DMRTA1
name: Doublesex- and mab-3-related transcription factor A1
length: 504
go: ENSG00000176399;
snps: rs372873186
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00070}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; protein homodimerization activity [GO:0042803]; sequence-specific DNA binding [GO:0043565]; male mating behavior [GO:0060179]; ovarian follicle development [GO:0001541]


uniprotID: Q13316
geneSymbol: DMP1
reactome: R-HSA-3000178;R-HSA-381426;R-HSA-8957275;
name: Dentin matrix acidic phosphoprotein 1 (DMP-1) (Dentin matrix protein 1)
length: 513
go: ENSG00000152592;
snps: rs10019009 rs140719182 rs145237146 rs34661425
sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; nucleus [GO:0005634]; calcium ion binding [GO:0005509]; extracellular matrix binding [GO:0050840]; integrin binding [GO:0005178]; biomineral tissue development [GO:0031214]; cellular protein metabolic process [GO:0044267]; extracellular matrix organization [GO:0030198]; ossification [GO:0001503]; positive regulation of cell-substrate adhesion [GO:0010811]; post-translational protein modification [GO:0043687]; regulation of enamel mineralization [GO:0070173]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13316-1; Sequence=Displayed; Name=2; IsoId=Q13316-2; Sequence=VSP_004191; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12615915}. Cytoplasm {ECO:0000269|PubMed:12615915}. Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:12615915}. Note=In proliferating preosteoblasts it is nuclear, during early maturation stage is cytoplasmic and in mature osteoblast localizes in the mineralized matrix. Export from the nucleus of differentiating osteoblast is triggered by the release of calcium from intracellular stores followed by a massive influx of this pool of calcium into the nucleus.


uniprotID: A6NHQ4
geneSymbol: EPOP
name: Elongin BC and Polycomb repressive complex 2-associated protein (Proline-rich protein 28)
length: 379
go: ENSG00000273604;
sequence:

opentargets:
chromosome [GO:0005694]; elongin complex [GO:0070449]; ESC/E(Z) complex [GO:0035098]; chromatin binding [GO:0003682]; histone H2B conserved C-terminal lysine deubiquitination [GO:0035616]; neuron fate commitment [GO:0048663]; regulation of transcription by RNA polymerase II [GO:0006357]; stem cell differentiation [GO:0048863]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q7TNS8}. Chromosome {ECO:0000250|UniProtKB:Q7TNS8}. Note=Localizes at both PRC2/EED-EZH2 sites (H3K27me3) and broad H3K4me3 sites on chromatin of embryonic stem cells (ESCs). {ECO:0000250|UniProtKB:Q7TNS8}.


uniprotID: P11532
geneSymbol: DMD
reactome: R-HSA-3000171;R-HSA-390522;
pdb: 1DXX;1EG3;1EG4;3UUN;
name: Dystrophin
length: 3685
go: ENSG00000198947;
sequence:

opentargets:
cell surface [GO:0009986]; cell-substrate junction [GO:0030055]; costamere [GO:0043034]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; dystrophin-associated glycoprotein complex [GO:0016010]; filopodium [GO:0030175]; filopodium membrane [GO:0031527]; membrane raft [GO:0045121]; neuron projection terminus [GO:0044306]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; protein-containing complex [GO:0032991]; sarcolemma [GO:0042383]; synapse [GO:0045202]; syntrophin complex [GO:0016013]; Z disc [GO:0030018]; actin binding [GO:0003779]; dystroglycan binding [GO:0002162]; myosin binding [GO:0017022]; nitric-oxide synthase binding [GO:0050998]; structural constituent of cytoskeleton [GO:0005200]; structural constituent of muscle [GO:0008307]; vinculin binding [GO:0017166]; zinc ion binding [GO:0008270]; cardiac muscle cell action potential [GO:0086001]; cardiac muscle contraction [GO:0060048]; cellular protein localization [GO:0034613]; cellular protein-containing complex assembly [GO:0034622]; motile cilium assembly [GO:0044458]; muscle cell cellular homeostasis [GO:0046716]; muscle fiber development [GO:0048747]; muscle filament sliding [GO:0030049]; muscle organ development [GO:0007517]; negative regulation of peptidyl-cysteine S-nitrosylation [GO:1902083]; negative regulation of peptidyl-serine phosphorylation [GO:0033137]; peptide biosynthetic process [GO:0043043]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of neuron projection development [GO:0010976]; positive regulation of sodium ion transmembrane transporter activity [GO:2000651]; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion [GO:0010881]; regulation of cellular response to growth factor stimulus [GO:0090287]; regulation of heart rate [GO:0002027]; regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum [GO:0010880]; regulation of ryanodine-sensitive calcium-release channel activity [GO:0060314]; regulation of skeletal muscle contraction [GO:0014819]; regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion [GO:0014809]; regulation of voltage-gated calcium channel activity [GO:1901385]; response to muscle stretch [GO:0035994]

snps:
rs1800256 rs1800266 rs34155804 rs5972599 rs1800259 rs34563188 rs16998350 rs1800260 rs228406 rs3827462 rs1800262 rs1800269 rs1800270 rs1800263 rs28715870 rs1057872 rs16990264 rs1801187 rs1801186 rs16990169 rs1800273 rs1800275 rs41305353 rs1800278 rs1800279 rs1800280 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=10;  Comment=Additional isoforms seem to exist.; Name=4; Synonyms=Dystrophin-4; IsoId=P11532-1; Sequence=Displayed; Name=1; Synonyms=Dystrophin-1; IsoId=P11532-2; Sequence=VSP_006806, VSP_006807; Name=2; Synonyms=Dystrophin-2; IsoId=P11532-3; Sequence=VSP_006808, VSP_006807; Name=3; Synonyms=Dystrophin-3; IsoId=P11532-4; Sequence=VSP_006809; Name=5; Synonyms=Dp71ab; IsoId=P11532-5; Sequence=VSP_017490, VSP_017491, VSP_017492, VSP_017493; Name=6; Synonyms=Dp71b; IsoId=P11532-6; Sequence=VSP_017490, VSP_017491, VSP_017493; Note=No experimental confirmation available. {ECO:0000244|PubMed:24275569}; Name=7; Synonyms=Dp71; IsoId=P11532-7; Sequence=VSP_017490, VSP_017491; Name=8; Synonyms=Dp71a; IsoId=P11532-8; Sequence=VSP_017490, VSP_017491, VSP_017492; Note=No experimental confirmation available. {ECO:0000244|PubMed:18669648}; Name=9; Synonyms=Dp60, Dp71delta110; IsoId=P11532-9; Sequence=VSP_017490, VSP_017491, VSP_046319, VSP_017493; Name=10; Synonyms=Dp71c; IsoId=P11532-10; Sequence=VSP_017490, VSP_017491, VSP_046319; 

location:
SUBCELLULAR LOCATION: Cell membrane, sarcolemma {ECO:0000250|UniProtKB:P11531}; Peripheral membrane protein {ECO:0000250|UniProtKB:P11531}; Cytoplasmic side {ECO:0000250|UniProtKB:P11531}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:P11531}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250|UniProtKB:P11531}. Note=In muscle cells, sarcolemma localization requires the presence of ANK2, while localization to costameres requires the presence of ANK3. Localizes to neuromuscular junctions (NMJs). In adult muscle, NMJ localization depends upon ANK2 presence, but not in newborn animals. {ECO:0000250|UniProtKB:P11531}.


uniprotID: P01588
geneSymbol: EPO
reactome: R-HSA-1234158;
pdb: 1BUY;1CN4;1EER;
name: Erythropoietin (Epoetin)
length: 193
go: ENSG00000130427;
snps: rs149431976
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MGVHECPAWLWLLLSLLSLPLGLPVLGAPPRLICDSRVLERYLLEAKEAENITTGCAEHCSLNENITVPDTKVNFYAWKRMEVGQQAVEVWQGLALLSEAVLRGQALLVNSSQPWEPLQLHVDKAVSGLRSLTTLLRALGAQKEAISPPDAASAAPLRTITADTFRKLFRVYSNFLRGKLKLYTGEACRTGDR

opentargets:
cell body [GO:0044297]; cell surface [GO:0009986]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; erythropoietin receptor binding [GO:0005128]; hormone activity [GO:0005179]; protein kinase activator activity [GO:0030295]; acute-phase response [GO:0006953]; aging [GO:0007568]; apoptotic process [GO:0006915]; blood circulation [GO:0008015]; cell proliferation [GO:0008283]; cellular hyperosmotic response [GO:0071474]; embryo implantation [GO:0007566]; erythrocyte differentiation [GO:0030218]; erythrocyte maturation [GO:0043249]; erythropoietin-mediated signaling pathway [GO:0038162]; hemoglobin biosynthetic process [GO:0042541]; negative regulation of calcium ion transport into cytosol [GO:0010523]; negative regulation of cation channel activity [GO:2001258]; negative regulation of erythrocyte apoptotic process [GO:1902251]; negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress [GO:1902219]; negative regulation of neuron death [GO:1901215]; negative regulation of transcription by RNA polymerase II [GO:0000122]; peptidyl-serine phosphorylation [GO:0018105]; positive regulation of activated T cell proliferation [GO:0042104]; positive regulation of cell proliferation [GO:0008284]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of neuron projection development [GO:0010976]; positive regulation of Ras protein signal transduction [GO:0046579]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; regulation of transcription from RNA polymerase II promoter in response to hypoxia [GO:0061418]; response to axon injury [GO:0048678]; response to dexamethasone [GO:0071548]; response to electrical stimulus [GO:0051602]; response to estrogen [GO:0043627]; response to hyperoxia [GO:0055093]; response to hypoxia [GO:0001666]; response to interleukin-1 [GO:0070555]; response to lipopolysaccharide [GO:0032496]; response to salt stress [GO:0009651]; response to testosterone [GO:0033574]; response to vitamin A [GO:0033189]; signal transduction [GO:0007165]


uniprotID: Q8NFW5
geneSymbol: DMBX1
length: 382
go: ENSG00000197587;
snps: rs34614765
name:
Diencephalon/mesencephalon homeobox protein 1 (Orthodenticle homolog 3) (Paired-like homeobox protein DMBX1)

sequence:

opentargets:
nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; adult feeding behavior [GO:0008343]; adult locomotory behavior [GO:0008344]; brain development [GO:0007420]; central nervous system development [GO:0007417]; developmental growth [GO:0048589]; negative regulation of transcription, DNA-templated [GO:0045892]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:12142024}; Synonyms=MBX-L {ECO:0000312|EMBL:AAM90590.1}; IsoId=Q8NFW5-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:12055180, ECO:0000269|PubMed:12142024}; Synonyms=MBX-S {ECO:0000312|EMBL:AAM90589.1}; IsoId=Q8NFW5-2; Sequence=VSP_052251; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:O35137, ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000255|PROSITE-ProRule:PRU00138}.


uniprotID: Q9Y5R6
geneSymbol: DMRT1
pdb: 4YJ0;
name: Doublesex- and mab-3-related transcription factor 1 (DM domain expressed in testis protein 1)
length: 373
go: ENSG00000137090;
snps: rs3739583 rs902482318
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00070}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; proximal promoter sequence-specific DNA binding [GO:0000987]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; cell morphogenesis [GO:0000902]; germ cell migration [GO:0008354]; intracellular signal transduction [GO:0035556]; male germ cell proliferation [GO:0002176]; male sex determination [GO:0030238]; male sex differentiation [GO:0046661]; negative regulation of meiotic nuclear division [GO:0045835]; negative regulation of transcription by RNA polymerase II [GO:0000122]; oocyte development [GO:0048599]; positive regulation of male gonad development [GO:2000020]; positive regulation of meiosis I [GO:0060903]; positive regulation of mitotic nuclear division [GO:0045840]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of nodal signaling pathway [GO:1900107]; Sertoli cell development [GO:0060009]; Sertoli cell differentiation [GO:0060008]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=DMRT1a; IsoId=Q9Y5R6-1; Sequence=Displayed; Name=2; Synonyms=DMRT1b; IsoId=Q9Y5R6-2; Sequence=VSP_042961, VSP_042962; Name=3; Synonyms=DMRT1c; IsoId=Q9Y5R6-3; Sequence=VSP_042959, VSP_042960; 


uniprotID: Q14565
geneSymbol: DMC1
reactome: R-HSA-912446;
pdb: 1V5W;2ZJB;4HYY;
name: Meiotic recombination protein DMC1/LIM15 homolog
length: 340
go: ENSG00000100206;
snps: rs58396845 rs2227914
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}. Chromosome {ECO:0000250}.
sequence:

opentargets:
chromosome [GO:0005694]; chromosome, telomeric region [GO:0000781]; condensed nuclear chromosome [GO:0000794]; nucleus [GO:0005634]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; DNA-dependent ATPase activity [GO:0008094]; double-stranded DNA binding [GO:0003690]; recombinase activity [GO:0000150]; single-stranded DNA binding [GO:0003697]; DNA recombinase assembly [GO:0000730]; female gamete generation [GO:0007292]; male meiosis I [GO:0007141]; meiotic cell cycle [GO:0051321]; mitotic recombination [GO:0006312]; oocyte maturation [GO:0001556]; ovarian follicle development [GO:0001541]; reciprocal meiotic recombination [GO:0007131]; spermatid development [GO:0007286]; spermatogenesis [GO:0007283]; strand invasion [GO:0042148]; synapsis [GO:0007129]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14565-1; Sequence=Displayed; Name=2; IsoId=Q14565-2; Sequence=VSP_055357; Note=No experimental confirmation available.; 


uniprotID: Q12929
geneSymbol: EPS8
pdb: 2E8M;
name: Epidermal growth factor receptor kinase substrate 8
length: 822
go: ENSG00000151491;
snps: rs7137185 rs1802658
sequence:

opentargets:
brush border [GO:0005903]; cell cortex [GO:0005938]; cell junction [GO:0030054]; extracellular exosome [GO:0070062]; glutamatergic synapse [GO:0098978]; growth cone [GO:0030426]; NMDA selective glutamate receptor complex [GO:0017146]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; ruffle membrane [GO:0032587]; stereocilium [GO:0032420]; stereocilium tip [GO:0032426]; vesicle [GO:0031982]; actin binding [GO:0003779]; Rac GTPase binding [GO:0048365]; SH3/SH2 adaptor activity [GO:0005070]; actin crosslink formation [GO:0051764]; actin cytoskeleton reorganization [GO:0031532]; actin filament bundle assembly [GO:0051017]; actin polymerization-dependent cell motility [GO:0070358]; adult locomotory behavior [GO:0008344]; barbed-end actin filament capping [GO:0051016]; behavioral response to ethanol [GO:0048149]; cell proliferation [GO:0008283]; cellular response to leukemia inhibitory factor [GO:1990830]; dendritic cell migration [GO:0036336]; epidermal growth factor receptor signaling pathway [GO:0007173]; exit from mitosis [GO:0010458]; positive regulation of ruffle assembly [GO:1900029]; Rac protein signal transduction [GO:0016601]; regulation of actin filament length [GO:0030832]; regulation of cell shape [GO:0008360]; regulation of postsynaptic membrane neurotransmitter receptor levels [GO:0099072]; regulation of Rho protein signal transduction [GO:0035023]; Rho protein signal transduction [GO:0007266]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q12929-1; Sequence=Displayed; Name=2; IsoId=Q12929-2; Sequence=VSP_056460; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cell cortex {ECO:0000250}. Cell projection, ruffle membrane {ECO:0000250}. Cell projection, growth cone {ECO:0000250}. Cell projection, stereocilium {ECO:0000250, ECO:0000250|UniProtKB:Q08509}. Cell junction, synapse, synaptosome {ECO:0000250}. Note=Localizes at the tips of the stereocilia of the inner and outer hair cells (By similarity). Localizes to the midzone of dividing cells. {ECO:0000250, ECO:0000250|UniProtKB:Q08509}.


uniprotID: O75616
geneSymbol: ERAL1
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
length: 437
go: ENSG00000132591;
snps: rs1131692170
name:
GTPase Era, mitochondrial (H-ERA) (hERA) (Conserved ERA-like GTPase) (CEGA) (ERA-W) (ERA-like protein 1)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial inner membrane [GO:0005743]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; GTP binding [GO:0005525]; ribosomal small subunit binding [GO:0043024]; RNA binding [GO:0003723]; rRNA binding [GO:0019843]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]; ribosomal small subunit assembly [GO:0000028]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=HERA-A; IsoId=O75616-1; Sequence=Displayed; Name=HERA-B; IsoId=O75616-2; Sequence=VSP_001453; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 

location:
SUBCELLULAR LOCATION: Mitochondrion matrix. Mitochondrion inner membrane; Peripheral membrane protein. Note=Localizes on the matrix side on the mitochondrial inner membrane.


uniprotID: P21860
geneSymbol: ERBB3
pdb: 1M6B;2L9U;3KEX;3LMG;3P11;4LEO;4OTW;4P59;4RIW;4RIX;4RIY;5CUS;5O4O;5O7P;
length: 1342
go: ENSG00000065361;
reactome:
R-HSA-1227986;R-HSA-1236394;R-HSA-1250196;R-HSA-1257604;R-HSA-1306955;R-HSA-1358803;R-HSA-1963642;R-HSA-2219530;R-HSA-5673001;R-HSA-6785631;R-HSA-6811558;R-HSA-8847993;R-HSA-8863795;

name:
Receptor tyrosine-protein kinase erbB-3 (EC 2.7.10.1) (Proto-oncogene-like protein c-ErbB-3) (Tyrosine kinase-type cell surface receptor HER3)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; basal plasma membrane [GO:0009925]; basolateral plasma membrane [GO:0016323]; cytoplasm [GO:0005737]; extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; lateral plasma membrane [GO:0016328]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; ATP binding [GO:0005524]; growth factor binding [GO:0019838]; identical protein binding [GO:0042802]; neuregulin binding [GO:0038132]; neuregulin receptor activity [GO:0038131]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; protein tyrosine kinase activator activity [GO:0030296]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; ubiquitin protein ligase binding [GO:0031625]; cell differentiation [GO:0030154]; cranial nerve development [GO:0021545]; endocardial cushion development [GO:0003197]; ERBB2 signaling pathway [GO:0038128]; extrinsic apoptotic signaling pathway in absence of ligand [GO:0097192]; heart development [GO:0007507]; MAPK cascade [GO:0000165]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell adhesion [GO:0007162]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of secretion [GO:0051048]; negative regulation of signal transduction [GO:0009968]; neuron apoptotic process [GO:0051402]; peripheral nervous system development [GO:0007422]; phosphatidylinositol 3-kinase signaling [GO:0014065]; positive regulation of calcineurin-NFAT signaling cascade [GO:0070886]; positive regulation of cardiac muscle tissue development [GO:0055025]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of gene expression [GO:0010628]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of protein tyrosine kinase activity [GO:0061098]; regulation of cell motility [GO:2000145]; regulation of cell proliferation [GO:0042127]; Schwann cell differentiation [GO:0014037]; signal transduction [GO:0007165]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]; wound healing [GO:0042060]

snps:
rs34379766 rs56017157 rs1057519893 rs56107455 rs12320176 rs56387488 rs35961836 rs55787439 rs56259600 rs773123 rs2271188 rs55699040 rs55709407 rs11171743 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=long form; IsoId=P21860-1; Sequence=Displayed; Name=2; Synonyms=short form; IsoId=P21860-2; Sequence=VSP_002893, VSP_002894; Name=3; IsoId=P21860-3; Sequence=VSP_041663, VSP_041664; Name=4; IsoId=P21860-4; Sequence=VSP_041662; Name=5; IsoId=P21860-5; Sequence=VSP_041661; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform 2: Secreted.


uniprotID: Q15303
geneSymbol: ERBB4
pdb: 2AHX;2L2T;2LCX;2R4B;3BBT;3BBW;3BCE;3U2P;3U7U;3U9U;
length: 1308
go: ENSG00000178568;
drug: DB08916;
snps: rs397514262 rs397514263
reactome:
R-HSA-1227986;R-HSA-1236394;R-HSA-1250196;R-HSA-1250342;R-HSA-1250347;R-HSA-1251985;R-HSA-1253288;R-HSA-1257604;R-HSA-1963640;R-HSA-1963642;R-HSA-2219530;R-HSA-5673001;R-HSA-6785631;R-HSA-6811558;R-HSA-8847993;R-HSA-8863795;R-HSA-9018519;

name:
Receptor tyrosine-protein kinase erbB-4 (EC 2.7.10.1) (Proto-oncogene-like protein c-ErbB-4) (Tyrosine kinase-type cell surface receptor HER4) (p180erbB4) [Cleaved into: ERBB4 intracellular domain (4ICD) (E4ICD) (s80HER4)]

sequence:

opentargets:
basal plasma membrane [GO:0009925]; basolateral plasma membrane [GO:0016323]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular region [GO:0005576]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic density membrane [GO:0099061]; integral component of presynaptic membrane [GO:0099056]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; receptor complex [GO:0043235]; ATP binding [GO:0005524]; epidermal growth factor receptor binding [GO:0005154]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein homodimerization activity [GO:0042803]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; transcription regulatory region DNA binding [GO:0044212]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; cardiac muscle tissue regeneration [GO:0061026]; cell differentiation [GO:0030154]; cell fate commitment [GO:0045165]; cell migration [GO:0016477]; cell proliferation [GO:0008283]; cellular response to epidermal growth factor stimulus [GO:0071364]; central nervous system morphogenesis [GO:0021551]; embryonic pattern specification [GO:0009880]; ERBB2 signaling pathway [GO:0038128]; heart development [GO:0007507]; lactation [GO:0007595]; mammary gland alveolus development [GO:0060749]; mammary gland epithelial cell differentiation [GO:0060644]; MAPK cascade [GO:0000165]; mitochondrial fragmentation involved in apoptotic process [GO:0043653]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell proliferation [GO:0008285]; negative regulation of neuron migration [GO:2001223]; negative regulation of signal transduction [GO:0009968]; nervous system development [GO:0007399]; neural crest cell migration [GO:0001755]; olfactory bulb interneuron differentiation [GO:0021889]; peptidyl-tyrosine phosphorylation [GO:0018108]; positive regulation of cardiac muscle cell proliferation [GO:0060045]; positive regulation of cell proliferation [GO:0008284]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of JAK-STAT cascade [GO:0046427]; positive regulation of phosphatidylinositol 3-kinase activity [GO:0043552]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of protein localization to cell surface [GO:2000010]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; protein autophosphorylation [GO:0046777]; regulation of cell migration [GO:0030334]; regulation of cell motility [GO:2000145]; signal transduction [GO:0007165]; synapse assembly [GO:0007416]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=JM-A CYT-1; IsoId=Q15303-1; Sequence=Displayed; Note=Proteolytical processing generates E4ICD1 (s80Cyt1).; Name=JM-B CYT-1; IsoId=Q15303-2; Sequence=VSP_002895; Name=JM-A CYT-2; IsoId=Q15303-3; Sequence=VSP_022148; Note=Proteolytical processing generates E4ICD2 (s80Cyt2).; Name=JM-B CYT-2; IsoId=Q15303-4; Sequence=VSP_002895, VSP_022148; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10348342, ECO:0000269|PubMed:12807903, ECO:0000269|PubMed:15534001, ECO:0000269|PubMed:16251361, ECO:0000269|PubMed:16778220, ECO:0000269|PubMed:16837552, ECO:0000269|PubMed:17486069, ECO:0000269|PubMed:17638867, ECO:0000269|PubMed:19193720, ECO:0000269|PubMed:20858735, ECO:0000269|PubMed:8383326, ECO:0000269|PubMed:9334263}; Single-pass type I membrane protein {ECO:0000269|PubMed:10348342, ECO:0000269|PubMed:12807903, ECO:0000269|PubMed:15534001, ECO:0000269|PubMed:16251361, ECO:0000269|PubMed:16778220, ECO:0000269|PubMed:16837552, ECO:0000269|PubMed:17486069, ECO:0000269|PubMed:17638867, ECO:0000269|PubMed:19193720, ECO:0000269|PubMed:20858735, ECO:0000269|PubMed:8383326, ECO:0000269|PubMed:9334263}. Note=In response to NRG1 treatment, the activated receptor is internalized.; SUBCELLULAR LOCATION: ERBB4 intracellular domain: Nucleus {ECO:0000269|PubMed:17486069}. Mitochondrion {ECO:0000269|PubMed:17486069}. Note=Following proteolytical processing E4ICD (E4ICD1 or E4ICD2 generated from the respective isoforms) is translocated to the nucleus. Significantly more E4ICD2 than E4ICD1 is found in the nucleus. E4ICD2 colocalizes with YAP1 in the nucleus.


uniprotID: O15083
geneSymbol: ERC2
name: ERC protein 2
length: 957
go: ENSG00000187672;
snps: rs12488237
sequence:

opentargets:
cell junction [GO:0030054]; cytoskeleton [GO:0005856]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; growth cone [GO:0030426]; presynaptic active zone [GO:0048786]; presynaptic active zone cytoplasmic component [GO:0098831]; presynaptic membrane [GO:0042734]; structural constituent of presynaptic active zone [GO:0098882]; synaptic vesicle priming [GO:0016082]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12923177}. Cell junction, synapse {ECO:0000269|PubMed:12923177}. Cell junction, synapse, synaptosome {ECO:0000269|PubMed:12923177}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:12923177}. Note=In neurons, localized to synapses, and colocalizes with PCLO. Localized to the active zone of presynaptic density (By similarity). {ECO:0000250}.


uniprotID: Q2NKX8
geneSymbol: ERCC6L
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-68877;
pdb: 5JNO;
length: 1250
go: ENSG00000186871;
name:
DNA excision repair protein ERCC-6-like (EC 3.6.4.12) (ATP-dependent helicase ERCC6-like) (PLK1-interacting checkpoint helicase) (Tumor antigen BJ-HCC-15)

sequence:

opentargets:
condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; membrane [GO:0016020]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; DNA translocase activity [GO:0015616]; helicase activity [GO:0004386]; cell cycle [GO:0007049]; cell division [GO:0051301]

location:
SUBCELLULAR LOCATION: Chromosome, centromere {ECO:0000269|PubMed:17218258, ECO:0000269|PubMed:17989990}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:17218258}. Chromosome {ECO:0000269|PubMed:17218258, ECO:0000269|PubMed:17671160, ECO:0000269|PubMed:17989990}. Note=Localizes to kinetochores, inner centromeres and thin threads connecting separating chromosomes even during anaphase. In prometaphase cells, it mostly concentrates in between kinetochores. In metaphase, it localizes to numerous thin threads that stretch between sister kinetochores of the aligned chromosomes and are composed of catenated centromeric DNA. Evolution from inner centromeres to thin threads takes place in response to tension. Resolution of thin threads requires topoisomerase 2-alpha (TOP2A) after anaphase onset. {ECO:0000269|PubMed:17218258, ECO:0000269|PubMed:17671160, ECO:0000269|PubMed:17956945, ECO:0000269|PubMed:17989990}.


uniprotID: P19447
geneSymbol: ERCC3
pdb: 4ERN;5IVW;5IY6;5IY7;5IY8;5IY9;5OF4;
length: 782
go: ENSG00000163161;
snps: rs121913045 rs1805161 rs121913046 rs1805162 rs4150521 rs4150522
location: SUBCELLULAR LOCATION: Nucleus.
reactome:
R-HSA-112382;R-HSA-113418;R-HSA-167152;R-HSA-167158;R-HSA-167160;R-HSA-167161;R-HSA-167162;R-HSA-167172;R-HSA-167200;R-HSA-167246;R-HSA-427413;R-HSA-5696395;R-HSA-5696400;R-HSA-674695;R-HSA-6781823;R-HSA-6781827;R-HSA-6782135;R-HSA-6782210;R-HSA-6796648;R-HSA-72086;R-HSA-73762;R-HSA-73772;R-HSA-73776;R-HSA-73777;R-HSA-73779;R-HSA-73863;R-HSA-75953;R-HSA-75955;R-HSA-76042;R-HSA-77075;

name:
General transcription and DNA repair factor IIH helicase subunit XPB (TFIIH subunit XPB) (EC 3.6.4.12) (Basic transcription factor 2 89 kDa subunit) (BTF2 p89) (DNA excision repair protein ERCC-3) (DNA repair protein complementing XP-B cells) (TFIIH basal transcription factor complex 89 kDa subunit) (TFIIH 89 kDa subunit) (TFIIH p89) (Xeroderma pigmentosum group B-complementing protein)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleotide-excision repair factor 3 complex [GO:0000112]; nucleus [GO:0005634]; transcription factor TFIID complex [GO:0005669]; transcription factor TFIIH core complex [GO:0000439]; transcription factor TFIIH holo complex [GO:0005675]; transcriptional preinitiation complex [GO:0097550]; 3'-5' DNA helicase activity [GO:0043138]; ATP binding [GO:0005524]; ATP-dependent DNA helicase activity [GO:0004003]; ATPase activity [GO:0016887]; damaged DNA binding [GO:0003684]; DNA binding [GO:0003677]; DNA translocase activity [GO:0015616]; helicase activity [GO:0004386]; protein C-terminus binding [GO:0008022]; protein N-terminus binding [GO:0047485]; transcription factor binding [GO:0008134]; 7-methylguanosine mRNA capping [GO:0006370]; apoptotic process [GO:0006915]; DNA repair [GO:0006281]; DNA topological change [GO:0006265]; embryonic organ development [GO:0048568]; global genome nucleotide-excision repair [GO:0070911]; hair cell differentiation [GO:0035315]; nucleotide-excision repair [GO:0006289]; nucleotide-excision repair, DNA duplex unwinding [GO:0000717]; nucleotide-excision repair, DNA incision [GO:0033683]; nucleotide-excision repair, DNA incision, 5'-to lesion [GO:0006296]; nucleotide-excision repair, preincision complex assembly [GO:0006294]; nucleotide-excision repair, preincision complex stabilization [GO:0006293]; phosphorylation of RNA polymerase II C-terminal domain [GO:0070816]; positive regulation of apoptotic process [GO:0043065]; positive regulation of transcription by RNA polymerase II [GO:0045944]; promoter clearance from RNA polymerase II promoter [GO:0001111]; protein localization [GO:0008104]; regulation of mitotic cell cycle phase transition [GO:1901990]; regulation of mitotic recombination [GO:0000019]; regulation of RNA polymerase II regulatory region sequence-specific DNA binding [GO:1903025]; regulation of transposition, RNA-mediated [GO:0010525]; response to hypoxia [GO:0001666]; response to oxidative stress [GO:0006979]; response to UV [GO:0009411]; termination of RNA polymerase I transcription [GO:0006363]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase II promoter [GO:0006368]; transcription initiation from RNA polymerase I promoter [GO:0006361]; transcription initiation from RNA polymerase II promoter [GO:0006367]; transcription-coupled nucleotide-excision repair [GO:0006283]; transcriptional open complex formation at RNA polymerase II promoter [GO:0001113]; UV protection [GO:0009650]; viral process [GO:0016032]


uniprotID: P28715
geneSymbol: ERCC5
reactome: R-HSA-5696395;R-HSA-5696400;R-HSA-6782135;
pdb: 5EKF;5EKG;
length: 1186
go: ENSG00000134899;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:7651464}.
name:
DNA repair protein complementing XP-G cells (EC 3.1.-.-) (DNA excision repair protein ERCC-5) (Xeroderma pigmentosum group G-complementing protein)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleotide-excision repair complex [GO:0000109]; nucleus [GO:0005634]; bubble DNA binding [GO:0000405]; double-stranded DNA binding [GO:0003690]; endodeoxyribonuclease activity [GO:0004520]; metal ion binding [GO:0046872]; protein homodimerization activity [GO:0042803]; protein N-terminus binding [GO:0047485]; protein-containing complex binding [GO:0044877]; RNA polymerase II complex binding [GO:0000993]; single-stranded DNA binding [GO:0003697]; negative regulation of apoptotic process [GO:0043066]; nucleotide-excision repair [GO:0006289]; nucleotide-excision repair, DNA incision [GO:0033683]; nucleotide-excision repair, DNA incision, 3'-to lesion [GO:0006295]; nucleotide-excision repair, DNA incision, 5'-to lesion [GO:0006296]; nucleotide-excision repair, preincision complex assembly [GO:0006294]; nucleotide-excision repair, preincision complex stabilization [GO:0006293]; response to UV [GO:0009411]; response to UV-C [GO:0010225]; transcription-coupled nucleotide-excision repair [GO:0006283]; UV protection [GO:0009650]

snps:
rs267607281 rs121434574 rs4987063 rs4150295 rs1047769 rs4150313 rs2307491 rs4150315 rs2227869 rs4150318 rs4150319 rs1803542 rs4987168 rs121434571 rs121434575 rs121434576 rs4150342 rs267607280 rs4150387 rs9514066 rs587778291 rs9514067 rs17655 rs2227871 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P28715-1; Sequence=Displayed; Name=2; IsoId=P28715-2; Sequence=VSP_035380; Name=3; IsoId=P28715-3; Sequence=VSP_053828, VSP_053829; Note=No experimental confirmation available. Includes a cryptic exon found in intron 6.; 


uniprotID: P24390
geneSymbol: KDELR1
reactome: R-HSA-6807878;R-HSA-6811434;
length: 212
go: ENSG00000105438;
name:
ER lumen protein-retaining receptor 1 (KDEL endoplasmic reticulum protein retention receptor 1) (KDEL receptor 1) (Putative MAPK-activating protein PM23)

sequence:

opentargets:
cis-Golgi network [GO:0005801]; COPI-coated vesicle membrane [GO:0030663]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; transport vesicle [GO:0030133]; KDEL sequence binding [GO:0005046]; ER to Golgi vesicle-mediated transport [GO:0006888]; intracellular protein transport [GO:0006886]; protein retention in ER lumen [GO:0006621]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]; T cell apoptotic process [GO:0070231]; T cell cytokine production [GO:0002369]; T cell differentiation [GO:0030217]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P24390-1; Sequence=Displayed; Name=2; IsoId=P24390-2; Sequence=VSP_055484; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, COPI-coated vesicle membrane {ECO:0000269|PubMed:14517323}; Multi-pass membrane protein {ECO:0000269|PubMed:14517323}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:14517323}; Multi-pass membrane protein {ECO:0000269|PubMed:14517323}. Endoplasmic reticulum-Golgi intermediate compartment membrane {ECO:0000269|PubMed:14517323}.


uniprotID: P33947
geneSymbol: KDELR2
reactome: R-HSA-6807878;R-HSA-6811434;
length: 212
go: ENSG00000136240;
location: SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.
name:
ER lumen protein-retaining receptor 2 (ERD2-like protein 1) (ELP-1) (KDEL endoplasmic reticulum protein retention receptor 2) (KDEL receptor 2)

sequence:

opentargets:
cis-Golgi network [GO:0005801]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; transport vesicle [GO:0030133]; KDEL sequence binding [GO:0005046]; ER to Golgi vesicle-mediated transport [GO:0006888]; intracellular protein transport [GO:0006886]; protein retention in ER lumen [GO:0006621]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P33947-1; Sequence=Displayed; Name=2; IsoId=P33947-2; Sequence=VSP_036712; 


uniprotID: O43731
geneSymbol: KDELR3
reactome: R-HSA-381038;R-HSA-6807878;R-HSA-6811434;
length: 214
go: ENSG00000100196;
snps: rs12004
location: SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.
name:
ER lumen protein-retaining receptor 3 (KDEL endoplasmic reticulum protein retention receptor 3) (KDEL receptor 3)

sequence:

opentargets:
cis-Golgi network [GO:0005801]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; transport vesicle [GO:0030133]; ER retention sequence binding [GO:0046923]; ER to Golgi vesicle-mediated transport [GO:0006888]; IRE1-mediated unfolded protein response [GO:0036498]; protein retention in ER lumen [GO:0006621]; protein transport [GO:0015031]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43731-1; Sequence=Displayed; Name=2; IsoId=O43731-2; Sequence=VSP_022856; 


uniprotID: Q8IYX4
geneSymbol: DND1
name: Dead end protein homolog 1 (RNA-binding motif, single-stranded-interacting protein 4)
length: 353
go: ENSG00000256453;
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; AU-rich element binding [GO:0017091]; mRNA binding [GO:0003729]; germ cell development [GO:0007281]; multicellular organism development [GO:0007275]; negative regulation of gene silencing by miRNA [GO:0060965]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18155131}. Cytoplasm {ECO:0000269|PubMed:18155131}. Note=Perinuclear germ granules, also called germ plasm or chromatoid body. Colocalizes in perinuclear sites with APOBEC3 (By similarity). {ECO:0000250}.


uniprotID: Q8N7S2
geneSymbol: DNAJC5G
name: DnaJ homolog subfamily C member 5G (Cysteine string protein-gamma) (CSP-gamma)
length: 189
go: ENSG00000163793;
opentargets: membrane [GO:0016020]
snps: rs17005979 rs13414011
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Lipid-anchor {ECO:0000250}.
sequence:
MSTVKEAAHRLSKSEMSLYAVLDLKKGASPEDFKKSYSHSALLPHPPFEYHLGRKLALRYHPDKNPGNAQAAEIFKEINAAHAILSDSKKRKIYDQHGSLGIYLYDHFGEEGVRYYFILNSCWFKTLVILCTLLTCCCFCCCCCFCCGALKPPPEQDSGRKYQQNVQSQPPRSGAKCDFRSEENSEDDF

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N7S2-1; Sequence=Displayed; Name=2; IsoId=Q8N7S2-2; Sequence=VSP_056967, VSP_056968; Note=No experimental confirmation available.; 


uniprotID: Q96KC8
geneSymbol: DNAJC1
pdb: 2CQQ;2CQR;
name: DnaJ homolog subfamily C member 1 (DnaJ protein homolog MTJ1)
length: 554
go: ENSG00000136770;
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; nuclear membrane [GO:0031965]; plasma membrane [GO:0005886]; ATPase activator activity [GO:0001671]; chaperone binding [GO:0051087]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; negative regulation of proteolysis [GO:0045861]; protein folding [GO:0006457]; regulation of protein secretion [GO:0050708]; regulation of translation [GO:0006417]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Nucleus membrane; Single-pass type I membrane protein. Microsome membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.


uniprotID: P50548
geneSymbol: ERF
reactome: R-HSA-2559585;
name: ETS domain-containing transcription factor ERF (Ets2 repressor factor) (PE-2)
length: 548
go: ENSG00000105722;
snps: rs587777009 rs587777008 rs886041001 rs1053655
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; sequence-specific DNA binding [GO:0043565]; transcription corepressor activity [GO:0003714]; cell differentiation [GO:0030154]; mitotic cell cycle [GO:0000278]; negative regulation of transcription by RNA polymerase II [GO:0000122]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P50548-1; Sequence=Displayed; Name=2; IsoId=P50548-2; Sequence=VSP_055487; Note=No experimental confirmation available.; 


uniprotID: P31146
geneSymbol: CORO1A
length: 461
go: ENSG00000102879;
snps: rs397514755 rs1804109
name:
Coronin-1A (Coronin-like protein A) (Clipin-A) (Coronin-like protein p57) (Tryptophan aspartate-containing coat protein) (TACO)

sequence:

opentargets:
actin filament [GO:0005884]; axon [GO:0030424]; cell-cell junction [GO:0005911]; cortical actin cytoskeleton [GO:0030864]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; early endosome [GO:0005769]; extracellular exosome [GO:0070062]; glutamatergic synapse [GO:0098978]; immunological synapse [GO:0001772]; lamellipodium [GO:0030027]; membrane [GO:0016020]; phagocytic cup [GO:0001891]; phagocytic vesicle [GO:0045335]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; actin binding [GO:0003779]; actin filament binding [GO:0051015]; actin monomer binding [GO:0003785]; cytoskeletal protein binding [GO:0008092]; myosin heavy chain binding [GO:0032036]; phosphatidylinositol 3-kinase binding [GO:0043548]; protein C-terminus binding [GO:0008022]; protein homodimerization activity [GO:0042803]; RNA binding [GO:0003723]; actin cytoskeleton organization [GO:0030036]; actin filament organization [GO:0007015]; calcium ion transport [GO:0006816]; cell-substrate adhesion [GO:0031589]; cellular response to interleukin-4 [GO:0071353]; early endosome to recycling endosome transport [GO:0061502]; homeostasis of number of cells within a tissue [GO:0048873]; innate immune response [GO:0045087]; leukocyte chemotaxis [GO:0030595]; natural killer cell degranulation [GO:0043320]; negative regulation of actin nucleation [GO:0051126]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of vesicle fusion [GO:0031339]; nerve growth factor signaling pathway [GO:0038180]; phagocytosis [GO:0006909]; phagolysosome assembly [GO:0001845]; positive chemotaxis [GO:0050918]; positive regulation of cell migration [GO:0030335]; positive regulation of T cell proliferation [GO:0042102]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of cell shape [GO:0008360]; regulation of release of sequestered calcium ion into cytosol [GO:0051279]; T cell homeostasis [GO:0043029]; uropod organization [GO:0032796]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}. Cytoplasm, cell cortex {ECO:0000250}. Cytoplasmic vesicle, phagosome membrane {ECO:0000250}. Note=In non-infected macrophages, associated with the cortical microtubule network. In mycobacteria-infected macrophages, becomes progressively relocalized and retained around the mycobacterial phagosomes. Retention on the phagosomal membrane is strictly dependent on mycobacterial viability and not due to impaired acidification (By similarity). {ECO:0000250}.


uniprotID: Q99807
geneSymbol: COQ7
reactome: R-HSA-2142789;
length: 217
go: ENSG00000167186;
snps: rs11074359 rs864321686
name:
5-demethoxyubiquinone hydroxylase, mitochondrial (DMQ hydroxylase) (EC 1.14.13.-) (Timing protein clk-1 homolog) (Ubiquinone biosynthesis monooxygenase COQ7)

sequence:

opentargets:
extrinsic component of mitochondrial inner membrane [GO:0031314]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; metal ion binding [GO:0046872]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen [GO:0016709]; mitochondrial ATP synthesis coupled electron transport [GO:0042775]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of reactive oxygen species metabolic process [GO:2000377]; ubiquinone biosynthetic process [GO:0006744]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q99807-1; Sequence=Displayed; Name=2; IsoId=Q99807-2; Sequence=VSP_039068; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000255|HAMAP-Rule:MF_03194}; Peripheral membrane protein {ECO:0000255|HAMAP-Rule:MF_03194}; Matrix side {ECO:0000255|HAMAP-Rule:MF_03194}.


uniprotID: Q96FN4
geneSymbol: CPNE2
name: Copine-2 (Copine II)
length: 548
go: ENSG00000140848;
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; calcium-dependent phospholipid binding [GO:0005544]; cellular response to calcium ion [GO:0071277]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96FN4-1; Sequence=Displayed; Name=2; IsoId=Q96FN4-2; Sequence=VSP_055536; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P59108}. Nucleus {ECO:0000250|UniProtKB:P59108}. Cell membrane {ECO:0000250|UniProtKB:P59108}. Note=Translocates to the cell membrane and the nucleus in a calcium-dependent manner. Colocalizes with CD2 at the cell membrane. {ECO:0000250|UniProtKB:P59108}.


uniprotID: Q96SM3
geneSymbol: CPXM1
name: Probable carboxypeptidase X1 (EC 3.4.17.-) (Metallocarboxypeptidase CPX-1)
length: 734
go: ENSG00000088882;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:

opentargets:
extracellular space [GO:0005615]; metallocarboxypeptidase activity [GO:0004181]; zinc ion binding [GO:0008270]; peptide metabolic process [GO:0006518]; protein processing [GO:0016485]


uniprotID: Q8NE35
geneSymbol: CPEB3
pdb: 2DNL;2RUG;
name: Cytoplasmic polyadenylation element-binding protein 3 (CPE-BP3) (CPE-binding protein 3) (hCPEB-3)
length: 698
go: ENSG00000107864;
snps: rs17853616
sequence:

opentargets:
apical dendrite [GO:0097440]; CCR4-NOT complex [GO:0030014]; cell junction [GO:0030054]; cytoplasm [GO:0005737]; dendrite [GO:0030425]; messenger ribonucleoprotein complex [GO:1990124]; neuron projection [GO:0043005]; nucleus [GO:0005634]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; synapse [GO:0045202]; mRNA 3'-UTR AU-rich region binding [GO:0035925]; mRNA 3'-UTR binding [GO:0003730]; ribosome binding [GO:0043022]; RNA binding [GO:0003723]; RNA stem-loop binding [GO:0035613]; translation factor activity, RNA binding [GO:0008135]; translation repressor activity, mRNA regulatory element binding [GO:0000900]; 3'-UTR-mediated mRNA destabilization [GO:0061158]; cellular response to amino acid stimulus [GO:0071230]; long-term memory [GO:0007616]; negative regulation of cytoplasmic translation [GO:2000766]; negative regulation of cytoplasmic translational elongation [GO:1900248]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of translation [GO:0017148]; positive regulation of dendritic spine development [GO:0060999]; positive regulation of mRNA polyadenylation [GO:1900365]; positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay [GO:1900153]; positive regulation of nuclear-transcribed mRNA poly(A) tail shortening [GO:0060213]; positive regulation of translation [GO:0045727]; regulation of dendritic spine development [GO:0060998]; regulation of synaptic plasticity [GO:0048167]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NE35-1; Sequence=Displayed; Name=2; IsoId=Q8NE35-2; Sequence=VSP_022034, VSP_022035; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20639532, ECO:0000269|PubMed:22730302}. Nucleus {ECO:0000269|PubMed:20639532, ECO:0000269|PubMed:22730302}. Cell junction, synapse {ECO:0000250|UniProtKB:Q7TN99}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q7TN99}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250|UniProtKB:Q7TN99}. Note=Predominantly cytoplasmic in unstimulated neurons but translocates to the nucleus following neuronal stimulation (PubMed:20639532, PubMed:22730302). Nuclear import is mediated by importin IPO5 (By similarity). {ECO:0000250|UniProtKB:Q7TN99, ECO:0000269|PubMed:20639532, ECO:0000269|PubMed:22730302}.


uniprotID: Q6PUV4
geneSymbol: CPLX2
name: Complexin-2 (Complexin II) (CPX II) (Synaphin-1)
length: 134
go: ENSG00000145920;
sequence:
MDFVMKQALGGATKDMGKMLGGEEEKDPDAQKKEEERQEALRQQEEERKAKHARMEAEREKVRQQIRDKYGLKKKEEKEAEEKAALEQPCEGSLTRPKKAIPAGCGDEEEEEEESILDTVLKYLPGPLQDMFKK

opentargets:
calyx of Held [GO:0044305]; cytosol [GO:0005829]; dendrite [GO:0030425]; glutamatergic synapse [GO:0098978]; mast cell granule [GO:0042629]; neuronal cell body [GO:0043025]; postsynapse [GO:0098794]; SNARE complex [GO:0031201]; synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex [GO:0070033]; synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex [GO:0070554]; terminal bouton [GO:0043195]; calcium-dependent protein binding [GO:0048306]; SNARE binding [GO:0000149]; syntaxin-1 binding [GO:0017075]; cell differentiation [GO:0030154]; mast cell degranulation [GO:0043303]; nervous system development [GO:0007399]; positive regulation of synaptic plasticity [GO:0031915]; regulation of exocytosis [GO:0017157]; regulation of neurotransmitter secretion [GO:0046928]; regulation of synaptic vesicle fusion to presynaptic active zone membrane [GO:0031630]; synaptic vesicle exocytosis [GO:0016079]; vesicle docking involved in exocytosis [GO:0006904]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Note=Enriched at synaptic-releasing sites in mature neurons. {ECO:0000250}.


uniprotID: A6NMK7
geneSymbol: CPSF4L
name: Putative cleavage and polyadenylation specificity factor subunit 4-like protein
length: 179
go: ENSG00000187959;
sequence:
MQEVIAGLERFTFAFEKDVEMQKGTGLLPFQGMDKSASAVCNFFTKGLCEKGKLCPFRHDRGEKMVVCKHWLRGLCKKGDHCKFLHQYDLTRMPECYFYSKFGDCSNKECSFLHVKPAFKSQDCPWYDQGFCKDGPLCKYRHVPRIMCLNYLVGFCPEGPKCQFAQKIREFKLLPGSKI

opentargets:
mRNA cleavage and polyadenylation specificity factor complex [GO:0005847]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; pre-mRNA cleavage required for polyadenylation [GO:0098789]


uniprotID: Q7Z7G2
geneSymbol: CPLX4
name: Complexin-4 (Complexin IV) (CPX IV)
length: 160
go: ENSG00000166569;
sequence:
MAFLMKSMISNQVKNLGFGGGSEENKEEGGASDPAAAQGMTREEYEEYQKQMIEEKMERDAAFTQKKAERACLRVHLREKYRLPKSEMDENQIQMAGDDVDLPEDLRKMVDEDQEEEEDKDSILGQIQNLQNMDLDTIKEKAQATFTEIKQTAEQKCSVM

opentargets:
cell junction [GO:0030054]; SNARE complex [GO:0031201]; terminal bouton [GO:0043195]; SNARE binding [GO:0000149]; syntaxin binding [GO:0019905]; regulation of neurotransmitter secretion [GO:0046928]; synaptic vesicle exocytosis [GO:0016079]

location:
SUBCELLULAR LOCATION: Membrane; Lipid-anchor. Cell junction, synapse {ECO:0000250}. Note=Enriched at the synaptic terminal. {ECO:0000250}.


uniprotID: Q96L46
geneSymbol: CAPNS2
reactome: R-HSA-1474228;R-HSA-8862803;
name: Calpain small subunit 2 (CSS2) (Calcium-dependent protease small subunit 2)
length: 248
go: ENSG00000256812;
sequence:

opentargets:
cytosol [GO:0005829]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; calcium-dependent cysteine-type endopeptidase activity [GO:0004198]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell membrane {ECO:0000250}. Note=Translocates to the plasma membrane upon calcium binding. {ECO:0000250}.


uniprotID: P00156
geneSymbol: MT-CYB
reactome: R-HSA-611105;
pdb: 5XTE;5XTH;5XTI;
length: 380
go: ENSG00000198727;
drug: DB08453;DB07778;DB07401;DB08330;DB08690;
name:
Cytochrome b (Complex III subunit 3) (Complex III subunit III) (Cytochrome b-c1 complex subunit 3) (Ubiquinol-cytochrome-c reductase complex cytochrome b subunit)

sequence:

opentargets:
integral component of mitochondrial inner membrane [GO:0031305]; mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex III [GO:0005750]; mitochondrion [GO:0005739]; metal ion binding [GO:0046872]; protein-containing complex binding [GO:0044877]; ubiquinol-cytochrome-c reductase activity [GO:0008121]; animal organ regeneration [GO:0031100]; electron transport coupled proton transport [GO:0015990]; hyperosmotic salinity response [GO:0042538]; mitochondrial electron transport, ubiquinol to cytochrome c [GO:0006122]; response to cadmium ion [GO:0046686]; response to calcium ion [GO:0051592]; response to cobalamin [GO:0033590]; response to copper ion [GO:0046688]; response to ethanol [GO:0045471]; response to glucagon [GO:0033762]; response to heat [GO:0009408]; response to hyperoxia [GO:0055093]; response to hypoxia [GO:0001666]; response to mercury ion [GO:0046689]

snps:
rs193302980 rs28357679 rs28357681 rs207459998 rs207460004 rs2853505 rs200786872 rs199997767 rs207459995 rs28357685 rs207460001 rs28357687 rs201250154 rs41518645 rs2853507 rs2853508 rs193302993 rs193302994 rs207460003 rs199951903 rs207459996 rs207460002 rs207459997 rs369851331 rs200975632 rs386829259 rs386829260 rs200336777 rs28357376 rs202225494 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250|UniProtKB:P00157}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P00157}.


uniprotID: O43174
geneSymbol: CYP26A1
reactome: R-HSA-211916;R-HSA-5365859;
length: 497
go: ENSG00000095596;
drug: DB00459;DB00926;DB01026;DB00162;
name:
Cytochrome P450 26A1 (EC 1.14.13.-) (Cytochrome P450 retinoic acid-inactivating 1) (Cytochrome P450RAI) (hP450RAI) (Retinoic acid 4-hydroxylase) (Retinoic acid-metabolizing cytochrome)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; organelle membrane [GO:0031090]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen [GO:0016709]; oxygen binding [GO:0019825]; retinoic acid 4-hydroxylase activity [GO:0008401]; retinoic acid binding [GO:0001972]; kidney development [GO:0001822]; negative regulation of retinoic acid receptor signaling pathway [GO:0048387]; oxidation-reduction process [GO:0055114]; response to retinoic acid [GO:0032526]; response to vitamin A [GO:0033189]; retinoic acid catabolic process [GO:0034653]; retinoic acid metabolic process [GO:0042573]; sterol metabolic process [GO:0016125]; vitamin metabolic process [GO:0006766]; xenobiotic metabolic process [GO:0006805]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43174-1; Sequence=Displayed; Name=2; IsoId=O43174-2; Sequence=VSP_045087; Note=No experimental confirmation available.; 


uniprotID: P80162
geneSymbol: CXCL6
reactome: R-HSA-380108;R-HSA-418594;
length: 114
go: ENSG00000124875;
location: SUBCELLULAR LOCATION: Secreted.
name:
C-X-C motif chemokine 6 (Chemokine alpha 3) (CKA-3) (Granulocyte chemotactic protein 2) (GCP-2) (Small-inducible cytokine B6) [Cleaved into: Small-inducible cytokine B6, N-processed variant 1; Small-inducible cytokine B6, N-processed variant 2; Small-inducible cytokine B6, N-processed variant 3]

sequence:
MSLPSSRAARVPGPSGSLCALLALLLLLTPPGPLASAGPVSAVLTELRCTCLRVTLRVNPKTIGKLQVFPAGPQCSKVEVVASLKNGKQVCLDPEAPFLKKVIQKILDSGNKKN

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; chemokine activity [GO:0008009]; heparin binding [GO:0008201]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; cell-cell signaling [GO:0007267]; cellular response to lipopolysaccharide [GO:0071222]; chemokine-mediated signaling pathway [GO:0070098]; chemotaxis [GO:0006935]; defense response to bacterium [GO:0042742]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; inflammatory response [GO:0006954]; leukocyte chemotaxis [GO:0030595]; leukocyte homeostasis [GO:0001776]; neutrophil activation [GO:0042119]; neutrophil chemotaxis [GO:0030593]; regulation of chemokine production [GO:0032642]; regulation of neutrophil mediated killing of gram-negative bacterium [GO:0070951]; signal transduction [GO:0007165]


uniprotID: Q9HAI6
geneSymbol: CXorf21
name: Uncharacterized protein CXorf21
length: 301
go: ENSG00000120280;
sequence:


uniprotID: Q8N144
geneSymbol: GJD3
reactome: R-HSA-190861;
length: 294
go: ENSG00000183153;
name:
Gap junction delta-3 protein (Connexin-31.9) (Cx31.9) (Gap junction alpha-11 protein) (Gap junction chi-1 protein)

sequence:

opentargets:
cell surface [GO:0009986]; connexin complex [GO:0005922]; integral component of plasma membrane [GO:0005887]; gap junction channel activity [GO:0005243]; ion channel activity [GO:0005216]; cell communication [GO:0007154]; cell communication by electrical coupling involved in cardiac conduction [GO:0086064]; gap junction assembly [GO:0016264]; response to glucose [GO:0009749]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N144-1; Sequence=Displayed; Name=2; IsoId=Q8N144-2; Sequence=VSP_029984; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12154091}; Multi-pass membrane protein {ECO:0000269|PubMed:12154091}. Cell junction, gap junction {ECO:0000269|PubMed:12154091}.


uniprotID: Q8N9T2
geneSymbol: NKAPP1
name: Putative uncharacterized protein CXorf42 (NF-kappa-B-activating protein pseudogene 1)
length: 125
sequence:
MSRFRGCSSSGVRFCSAEREASGSGRGNVLQFVQEPQAQQSRPFPAGAQLSLELLFSDWGMEWAQPRLPKPALPLPVVVAFSRAADCAVDHHFRFCLLLRLLRQLLTLLRDEEREVNPWQRKIVV


uniprotID: Q8TE69
geneSymbol: CXorf40A
pdb: 5Y7D;
name: Protein CXorf40A (Endothelial-overexpressed lipopolysaccharide-associated factor 1)
length: 158
go: ENSG00000197620;
sequence:
MKFGCLSFRQPYAGFVLNGIKTVETRWRPLLSSQRNCTIAVHIAHRDWEGDAWRELLVERLGMTPAQIQALLRKGEKFGRGVIAGLVDIGETLQCPEDLTPDEVVELENQAVLTNLKQKYLTVISNPRWLLEPIPRKGGKDVFQVDIPEHLIPLGHEV

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TE69-1; Sequence=Displayed; Name=2; IsoId=Q8TE69-2; Sequence=VSP_047240; 


uniprotID: Q96DE9
geneSymbol: CXorf40B
name: Protein CXorf40B
length: 158
go: ENSG00000197021;
sequence:
MKFGCLSFRQPYAGFVLNGIKTVETRWRPLLSSQRNCTIAVHIAHRDWEGDACRELLVERLGMTPAQIQALLRKGEKFGRGVIAGLVDIGETLQCPEDLTPDEVVELENQAALTNLKQKYLTVISNPRWLLEPIPRKGGKDVFQVDIPEHLIPLGHEV


uniprotID: Q9NTQ9
geneSymbol: GJB4
reactome: R-HSA-190861;
name: Gap junction beta-4 protein (Connexin-30.3) (Cx30.3)
length: 266
go: ENSG00000189433;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
sequence:

opentargets:
cell junction [GO:0030054]; connexin complex [GO:0005922]; integral component of membrane [GO:0016021]; nucleolus [GO:0005730]; nucleus [GO:0005634]; cell communication [GO:0007154]; olfactory behavior [GO:0042048]; sensory perception of smell [GO:0007608]

snps:
rs80358211 rs80358212 rs80358210 rs9426009 rs140996335 rs80358206 rs148710003 rs79193415 rs80358213 rs3738346 


uniprotID: Q5JRM2
geneSymbol: CXorf66
name: Uncharacterized protein CXorf66
length: 361
go: ENSG00000203933;
opentargets: integral component of membrane [GO:0016021]
snps: rs5955139
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:


uniprotID: P61073
geneSymbol: CXCR4
reactome: R-HSA-173107;R-HSA-376176;R-HSA-380108;R-HSA-418594;
pdb: 2K03;2K04;2K05;2N55;3ODU;3OE0;3OE6;3OE8;3OE9;4RWS;
length: 352
go: ENSG00000121966;
drug: DB05501;DB00452;DB06809;
name:
C-X-C chemokine receptor type 4 (CXC-R4) (CXCR-4) (FB22) (Fusin) (HM89) (LCR1) (Leukocyte-derived seven transmembrane domain receptor) (LESTR) (Lipopolysaccharide-associated protein 3) (LAP-3) (LPS-associated protein 3) (NPYRL) (Stromal cell-derived factor 1 receptor) (SDF-1 receptor) (CD antigen CD184)

sequence:

opentargets:
cell junction [GO:0030054]; cell leading edge [GO:0031252]; cell surface [GO:0009986]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; early endosome [GO:0005769]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; late endosome [GO:0005770]; lysosome [GO:0005764]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; actin binding [GO:0003779]; C-C chemokine binding [GO:0019957]; C-C chemokine receptor activity [GO:0016493]; C-X-C chemokine receptor activity [GO:0016494]; C-X-C motif chemokine 12 receptor activity [GO:0038147]; chemokine binding [GO:0019956]; coreceptor activity [GO:0015026]; G protein-coupled receptor activity [GO:0004930]; myosin light chain binding [GO:0032027]; ubiquitin binding [GO:0043130]; ubiquitin protein ligase binding [GO:0031625]; virus receptor activity [GO:0001618]; activation of MAPK activity [GO:0000187]; apoptotic process [GO:0006915]; axon guidance [GO:0007411]; brain development [GO:0007420]; calcium-mediated signaling [GO:0019722]; cell chemotaxis [GO:0060326]; cellular response to cytokine stimulus [GO:0071345]; chemotaxis [GO:0006935]; CXCL12-activated CXCR4 signaling pathway [GO:0038160]; dendritic cell chemotaxis [GO:0002407]; entry into host cell [GO:0030260]; fusion of virus membrane with host plasma membrane [GO:0019064]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; inflammatory response [GO:0006954]; myelin maintenance [GO:0043217]; neurogenesis [GO:0022008]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of oligodendrocyte differentiation [GO:0048714]; regulation of chemotaxis [GO:0050920]; response to hypoxia [GO:0001666]; response to virus [GO:0009615]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=P61073-1, P30991-1; Sequence=Displayed; Name=2; Synonyms=CXCR4-LO; IsoId=P61073-2, P30991-2; Sequence=VSP_001890; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10452968, ECO:0000305|PubMed:20929726}; Multi-pass membrane protein {ECO:0000269|PubMed:20929726}. Cell junction. Early endosome. Late endosome. Lysosome. Note=In unstimulated cells, diffuse pattern on plasma membrane. On agonist stimulation, colocalizes with ITCH at the plasma membrane where it becomes ubiquitinated. In the presence of antigen, distributes to the immunological synapse forming at the T-cell-APC contact area, where it localizes at the peripheral and distal supramolecular activation cluster (SMAC).


uniprotID: P01034
geneSymbol: CST3
reactome: R-HSA-381426;R-HSA-6798695;R-HSA-8957275;R-HSA-977225;
pdb: 1G96;1R4C;1TIJ;3GAX;3NX0;3PS8;3QRD;3S67;3SVA;
name: Cystatin-C (Cystatin-3) (Gamma-trace) (Neuroendocrine basic polypeptide) (Post-gamma-globulin)
length: 146
go: ENSG00000101439;
snps: rs1064039 rs28939068
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:20189825}.
sequence:
MAGPLRAPLLLLAILAVALAVSPAAGSSPGKPPRLVGGPMDASVEEEGVRRALDFAVGEYNKASNDMYHSRALQVVRARKQIVAGVNYFLDVELGRTTCTKTQPNLDNCPFHDQPHLKRKAFCSFQIYAVPWQGTMTLSKSTCQDA

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; ficolin-1-rich granule lumen [GO:1904813]; tertiary granule lumen [GO:1904724]; amyloid-beta binding [GO:0001540]; cysteine-type endopeptidase inhibitor activity [GO:0004869]; endopeptidase inhibitor activity [GO:0004866]; identical protein binding [GO:0042802]; protease binding [GO:0002020]; cellular protein metabolic process [GO:0044267]; defense response [GO:0006952]; negative regulation of blood vessel remodeling [GO:0060313]; negative regulation of collagen catabolic process [GO:0010711]; negative regulation of elastin catabolic process [GO:0060311]; negative regulation of extracellular matrix disassembly [GO:0010716]; negative regulation of peptidase activity [GO:0010466]; negative regulation of proteolysis [GO:0045861]; neutrophil degranulation [GO:0043312]; post-translational protein modification [GO:0043687]; regulation of tissue remodeling [GO:0034103]; supramolecular fiber organization [GO:0097435]


uniprotID: P01040
geneSymbol: CSTA
reactome: R-HSA-6809371;
pdb: 1CYU;1CYV;1DVC;1DVD;1GD3;1GD4;1N9J;1NB3;1NB5;3K9M;3KFQ;3KSE;
name: Cystatin-A (Cystatin-AS) (Stefin-A) [Cleaved into: Cystatin-A, N-terminally processed]
sequence: MIPGGLSEAKPATPEIQEIVDKVKPQLEEKTNETYGKLEAVQYKTQVVAGTNYYIKVRAGDNKYMHLKVFKSLPGQNEDLVLTGYQVDKNKDDELTGF
length: 98
go: ENSG00000121552;
snps: rs34173813
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21944047}.
opentargets:
cornified envelope [GO:0001533]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular space [GO:0005615]; nucleus [GO:0005634]; cysteine-type endopeptidase inhibitor activity [GO:0004869]; protease binding [GO:0002020]; protein binding, bridging [GO:0030674]; structural molecule activity [GO:0005198]; cell-cell adhesion [GO:0098609]; cornification [GO:0070268]; keratinocyte differentiation [GO:0030216]; negative regulation of peptidase activity [GO:0010466]; negative regulation of proteolysis [GO:0045861]; peptide cross-linking [GO:0018149]


uniprotID: P0C864
geneSymbol: DANCR
length: 163
name:
Putative uncharacterized protein DANCR (Anti-differentiation ncRNA protein) (Differentiation antagonizing non-protein coding RNA) (Small nucleolar RNA host gene protein 13)

sequence:
MAGPVPPHPGLAVRAAALHPAPLRIFPGLAELPDLSRGSAARPALAQSLPGIGCGPRDPPASLPAPRRLSGLCARRRSQASLSAGVARADAPLCSGFRAGHACGTGTQPQPTLSSRSSSLTSAEVQLPQFLAQVDNYRHKPLKLECPVAGISIDLSQLSLQLQ


uniprotID: Q8WTQ1
geneSymbol: DEFB104A; DEFB104B
reactome: R-HSA-1461957;R-HSA-1461973;
pdb: 5KI9;
name: Beta-defensin 104 (Beta-defensin 4) (BD-4) (DEFB-4) (hBD-4) (Defensin, beta 104)
sequence: MQRLVLLLAISLLLYQDLPVRSEFELDRICGYGTARCRKKCRSQEYRIGRCPNTYACCLRKWDESLLNRTKP
length: 72
go: ENSG00000177023;
snps: rs2680507
location: SUBCELLULAR LOCATION: Secreted.
opentargets:
extracellular region [GO:0005576]; chemoattractant activity [GO:0042056]; cellular response to phorbol 13-acetate 12-myristate [GO:1904628]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; innate immune response [GO:0045087]; monocyte chemotaxis [GO:0002548]; positive chemotaxis [GO:0050918]


uniprotID: Q5D0E6
geneSymbol: DALRD3
name: DALR anticodon-binding domain-containing protein 3
length: 543
go: ENSG00000178149;
snps: rs3087866
sequence:

opentargets:
arginine-tRNA ligase activity [GO:0004814]; ATP binding [GO:0005524]; arginyl-tRNA aminoacylation [GO:0006420]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q5D0E6-1; Sequence=Displayed; Name=2; IsoId=Q5D0E6-2; Sequence=VSP_030746; Name=3; IsoId=Q5D0E6-3; Sequence=VSP_030743, VSP_030744; Name=4; IsoId=Q5D0E6-4; Sequence=VSP_030741; 


uniprotID: P59103
geneSymbol: DAOA
name: D-amino acid oxidase activator (Protein G72)
length: 153
go: ENSG00000182346;
snps: rs2391191 rs9558562
location: SUBCELLULAR LOCATION: Golgi apparatus.
sequence:
MLEKLMGADSLQLFRSRYTLGKIYFIGFQRSILLSKSENSLNSIAKETEEGRETVTRKEGWKRRHEDGYLEMAQRHLQRSLCPWVSYLPQPYAELEEVSSHVGKVFMARNYEFLAYEASKDRRQPLERMWTCNYNQQKDQSCNHKEITSTKAE

opentargets:
Golgi apparatus [GO:0005794]; mitochondrion [GO:0005739]; perinuclear region of cytoplasm [GO:0048471]; enzyme activator activity [GO:0008047]; enzyme binding [GO:0019899]; negative regulation of D-amino-acid oxidase activity [GO:1900758]; positive regulation of catalytic activity [GO:0043085]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=LG72; IsoId=P59103-1; Sequence=Displayed; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=2; Synonyms=SG72; IsoId=P59103-2; Sequence=VSP_004053, VSP_004054; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; Name=3; IsoId=P59103-3; Sequence=VSP_044292; Name=4; IsoId=P59103-4; Sequence=VSP_044293; 


uniprotID: P51397
geneSymbol: DAP
name: Death-associated protein 1 (DAP-1)
length: 102
go: ENSG00000112977;
sequence:
MSSPPEGKLETKAGHPPAVKAGGMRIVQKHPHTGDTKEEKDKDDQEWESPSPPKPTVFISGVIARGDKDFPPAAAQVAHQKPHASMDKHPSPRTQHIQQPRK

opentargets:
death domain binding [GO:0070513]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; apoptotic process [GO:0006915]; apoptotic signaling pathway [GO:0097190]; autophagy [GO:0006914]; cellular response to amino acid starvation [GO:0034198]; negative regulation of autophagy [GO:0010507]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of transcription, DNA-templated [GO:0045892]


uniprotID: Q6ZN68
geneSymbol: DPY19L2P2
length: 376
snps: rs7796589 rs17136078
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Putative C-mannosyltransferase DPY19L2P2 (EC 2.4.1.-) (Dpy-19-like protein 2 pseudogene 2) (Protein dpy-19 homolog 2-like 2)

sequence:

opentargets:
integral component of membrane [GO:0016021]; nuclear inner membrane [GO:0005637]; mannosyltransferase activity [GO:0000030]; protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan [GO:0018406]; spermatid development [GO:0007286]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6ZN68-1; Sequence=Displayed; Name=2; IsoId=Q6ZN68-2; Sequence=VSP_033400, VSP_033401; Name=3; IsoId=Q6ZN68-3; Sequence=VSP_033399, VSP_033401; 


uniprotID: Q8N907
geneSymbol: DAND5
reactome: R-HSA-1181150;R-HSA-1433617;
length: 189
go: ENSG00000179284;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
DAN domain family member 5 (Cerberus-like protein 2) (Cerl-2) (Cysteine knot superfamily 1, BMP antagonist 3) (Gremlin-3)

sequence:
MLLGQLSTLLCLLSGALPTGSGRPEPQSPRPQSWAAANQTWALGPGALPPLVPASALGSWKAFLGLQKARQLGMGRLQRGQDEVAAVTLPLNPQEVIQGMCKAVPFVQVFSRPGCSAIRLRNHLCFGHCSSLYIPGSDPTPLVLCNSCMPARKRWAPVVLWCLTGSSASRRRVKISTMLIEGCHCSPKA

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; morphogen activity [GO:0016015]; atrial septum development [GO:0003283]; determination of heart left/right asymmetry [GO:0061371]; determination of left/right asymmetry in lateral mesoderm [GO:0003140]; negative regulation of BMP signaling pathway [GO:0030514]; negative regulation of nodal signaling pathway [GO:1900108]; negative regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry [GO:1900176]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; sequestering of BMP in extracellular matrix [GO:0035582]; sequestering of nodal from receptor via nodal binding [GO:0038101]; signal transduction involved in regulation of gene expression [GO:0023019]; ventricular septum development [GO:0003281]


uniprotID: Q9Y4D1
geneSymbol: DAAM1
reactome: R-HSA-4086400;R-HSA-5663220;
pdb: 2J1D;2Z6E;
name: Disheveled-associated activator of morphogenesis 1
length: 1078
go: ENSG00000100592;
sequence:

opentargets:
ciliary basal body [GO:0036064]; cytosol [GO:0005829]; membrane [GO:0016020]; motile cilium [GO:0031514]; plasma membrane [GO:0005886]; stress fiber [GO:0001725]; actin binding [GO:0003779]; identical protein binding [GO:0042802]; Rho GTPase binding [GO:0017048]; actin cytoskeleton organization [GO:0030036]; Wnt signaling pathway, planar cell polarity pathway [GO:0060071]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y4D1-1; Sequence=Displayed; Name=2; IsoId=Q9Y4D1-2; Sequence=VSP_008000; Name=3; IsoId=Q9Y4D1-3; Sequence=VSP_008001, VSP_008002, VSP_008003; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16630611}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:26644512}. Note=Perinuclear.


uniprotID: P04080
geneSymbol: CSTB
reactome: R-HSA-6798695;
pdb: 1STF;2OCT;4N6V;
name: Cystatin-B (CPI-B) (Liver thiol proteinase inhibitor) (Stefin-B)
sequence: MMCGAPSATQPATAETQHIADQVRSQLEEKENKKFPVFKAVSFKSQVVAGTNYFIKVHVGDEDFVHLRVFQSLPHENKPLTLSNYQTNKAKHDELTYF
length: 98
go: ENSG00000160213;
snps: rs74315443
opentargets:
collagen-containing extracellular matrix [GO:0062023]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; ficolin-1-rich granule lumen [GO:1904813]; nucleolus [GO:0005730]; secretory granule lumen [GO:0034774]; tertiary granule lumen [GO:1904724]; cysteine-type endopeptidase inhibitor activity [GO:0004869]; endopeptidase inhibitor activity [GO:0004866]; protease binding [GO:0002020]; RNA binding [GO:0003723]; adult locomotory behavior [GO:0008344]; negative regulation of peptidase activity [GO:0010466]; negative regulation of proteolysis [GO:0045861]; neutrophil degranulation [GO:0043312]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11139332}. Nucleus {ECO:0000269|PubMed:11139332}.


uniprotID: O96002
geneSymbol: CXorf1
name: Putative transmembrane protein CXorf1
length: 111
go: ENSG00000185985;
opentargets: integral component of membrane [GO:0016021]
snps: rs3752359
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}.
sequence:
MYSRLFYLKSSYIIYFEPLFSNAIINILSFINSLASPLTIFCFALSAQALSTIFYFRIFIFIFHSWILLFHFYFTCSFKTYEHQHSKMVPAYRMQSPRALPRTYLYVWPYK


uniprotID: P02775
geneSymbol: PPBP
reactome: R-HSA-114608;R-HSA-380108;R-HSA-418594;R-HSA-6798695;
pdb: 1F9P;1NAP;1TVX;
length: 128
go: ENSG00000163736;
drug: DB03635;
location: SUBCELLULAR LOCATION: Secreted.
name:
Platelet basic protein (PBP) (C-X-C motif chemokine 7) (Leukocyte-derived growth factor) (LDGF) (Macrophage-derived growth factor) (MDGF) (Small-inducible cytokine B7) [Cleaved into: Connective tissue-activating peptide III (CTAP-III) (LA-PF4) (Low-affinity platelet factor IV); TC-2; Connective tissue-activating peptide III(1-81) (CTAP-III(1-81)); Beta-thromboglobulin (Beta-TG); Neutrophil-activating peptide 2(74) (NAP-2(74)); Neutrophil-activating peptide 2(73) (NAP-2(73)); Neutrophil-activating peptide 2 (NAP-2); TC-1; Neutrophil-activating peptide 2(1-66) (NAP-2(1-66)); Neutrophil-activating peptide 2(1-63) (NAP-2(1-63))]

sequence:
MSLRLDTTPSCNSARPLHALQVLLLLSLLLTALASSTKGQTKRNLAKGKEESLDSDLYAELRCMCIKTTSGIHPKNIQSLEVIGKGTHCNQVEVIATLKDGRKICLDPDAPRIKKIVQKKLAGDESAD

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; platelet alpha granule [GO:0031091]; platelet alpha granule lumen [GO:0031093]; tertiary granule lumen [GO:1904724]; chemokine activity [GO:0008009]; glucose transmembrane transporter activity [GO:0005355]; growth factor activity [GO:0008083]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; cellular response to lipopolysaccharide [GO:0071222]; chemokine-mediated signaling pathway [GO:0070098]; defense response to bacterium [GO:0042742]; G protein-coupled receptor signaling pathway [GO:0007186]; glucose transmembrane transport [GO:1904659]; immune response [GO:0006955]; inflammatory response [GO:0006954]; killing of cells of other organism [GO:0031640]; leukocyte chemotaxis [GO:0030595]; neutrophil chemotaxis [GO:0030593]; neutrophil degranulation [GO:0043312]; platelet degranulation [GO:0002576]; positive regulation of cell division [GO:0051781]


uniprotID: Q07325
geneSymbol: CXCL9
reactome: R-HSA-380108;R-HSA-418594;
length: 125
go: ENSG00000138755;
location: SUBCELLULAR LOCATION: Secreted.
name:
C-X-C motif chemokine 9 (Gamma-interferon-induced monokine) (Monokine induced by interferon-gamma) (HuMIG) (MIG) (Small-inducible cytokine B9)

sequence:
MKKSGVLFLLGIILLVLIGVQGTPVVRKGRCSCISTNQGTIHLQSLKDLKQFAPSPSCEKIEIIATLKNGVQTCLNPDSADVKELIKKWEKQVSQKKKQKNGKKHQKKKVLKVRKSQRSRQKKTT

opentargets:
external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; chemokine activity [GO:0008009]; CXCR3 chemokine receptor binding [GO:0048248]; cytokine activity [GO:0005125]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; cell-cell signaling [GO:0007267]; cellular defense response [GO:0006968]; cellular response to lipopolysaccharide [GO:0071222]; chemokine-mediated signaling pathway [GO:0070098]; chemotaxis [GO:0006935]; defense response [GO:0006952]; defense response to virus [GO:0051607]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; inflammatory response [GO:0006954]; killing of cells of other organism [GO:0031640]; leukocyte chemotaxis [GO:0030595]; neutrophil chemotaxis [GO:0030593]; positive regulation of cAMP-mediated signaling [GO:0043950]; positive regulation of myoblast differentiation [GO:0045663]; positive regulation of myoblast fusion [GO:1901741]; positive regulation of release of sequestered calcium ion into cytosol [GO:0051281]; regulation of cell proliferation [GO:0042127]; signal transduction [GO:0007165]


uniprotID: P25025
geneSymbol: CXCR2
reactome: R-HSA-380108;R-HSA-418594;R-HSA-6798695;
pdb: 4Q3H;5TYT;
length: 360
go: ENSG00000180871;
snps: rs1805038
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
C-X-C chemokine receptor type 2 (CXC-R2) (CXCR-2) (CDw128b) (GRO/MGSA receptor) (High affinity interleukin-8 receptor B) (IL-8R B) (IL-8 receptor type 2) (CD antigen CD182)

sequence:

opentargets:
cell surface [GO:0009986]; external side of plasma membrane [GO:0009897]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; mast cell granule [GO:0042629]; membrane [GO:0016020]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; C-C chemokine binding [GO:0019957]; C-C chemokine receptor activity [GO:0016493]; C-X-C chemokine receptor activity [GO:0016494]; chemokine binding [GO:0019956]; G protein-coupled receptor activity [GO:0004930]; interleukin-8 binding [GO:0019959]; interleukin-8 receptor activity [GO:0004918]; acute inflammatory response to antigenic stimulus [GO:0002438]; calcium-mediated signaling [GO:0019722]; cell chemotaxis [GO:0060326]; cell surface receptor signaling pathway [GO:0007166]; cellular defense response [GO:0006968]; chemotaxis [GO:0006935]; dendritic cell chemotaxis [GO:0002407]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; inflammatory response [GO:0006954]; interleukin-8-mediated signaling pathway [GO:0038112]; metanephric tubule morphogenesis [GO:0072173]; midbrain development [GO:0030901]; negative regulation of neutrophil apoptotic process [GO:0033030]; neutrophil activation [GO:0042119]; neutrophil chemotaxis [GO:0030593]; neutrophil degranulation [GO:0043312]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; positive regulation of angiogenesis [GO:0045766]; positive regulation of cardiac muscle cell apoptotic process [GO:0010666]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of neutrophil chemotaxis [GO:0090023]; positive regulation of vascular permeability [GO:0043117]; receptor internalization [GO:0031623]; signal transduction [GO:0007165]


uniprotID: Q6YFQ2
geneSymbol: COX6B2
sequence: MLDVEAQEPPKGKWSTPPFDPRFPSQNQIRNCYQNFLDYHRCLKTRTRRGKSTQPCEYYFRVYHSLCPISWVESWNEQIKNGIFAGKI
length: 88
go: ENSG00000160471;
opentargets: mitochondrial crista [GO:0030061]; mitochondrial intermembrane space [GO:0005758]
location: SUBCELLULAR LOCATION: Mitochondrion intermembrane space {ECO:0000250}.
name:
Cytochrome c oxidase subunit 6B2 (Cancer/testis antigen 59) (CT59) (Cytochrome c oxidase subunit VIb isoform 2) (COX VIb-2) (Cytochrome c oxidase subunit VIb, testis-specific isoform)


uniprotID: A6NNA5
geneSymbol: DRGX
name: Dorsal root ganglia homeobox protein (Paired-related homeobox protein-like 1)
length: 263
go: ENSG00000165606;
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; axon guidance [GO:0007411]; detection of chemical stimulus [GO:0009593]; detection of temperature stimulus [GO:0016048]; dorsal spinal cord development [GO:0021516]; neuron migration [GO:0001764]; sensory perception of mechanical stimulus [GO:0050954]; trigeminal nerve development [GO:0021559]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000255|PROSITE-ProRule:PRU00138}.


uniprotID: O95452
geneSymbol: GJB6
reactome: R-HSA-190861;
name: Gap junction beta-6 protein (Connexin-30) (Cx30)
length: 261
go: ENSG00000121742;
snps: rs104894414 rs104894415 rs104894416 rs28937872 rs35277762 rs111033338
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
sequence:

opentargets:
apical plasma membrane [GO:0016324]; cell junction [GO:0030054]; connexin complex [GO:0005922]; cytosol [GO:0005829]; integral component of membrane [GO:0016021]; aging [GO:0007568]; apoptotic process [GO:0006915]; cell communication [GO:0007154]; cellular response to glucose stimulus [GO:0071333]; ear morphogenesis [GO:0042471]; inner ear development [GO:0048839]; negative regulation of cell proliferation [GO:0008285]; response to electrical stimulus [GO:0051602]; response to lipopolysaccharide [GO:0032496]; sensory perception of sound [GO:0007605]


uniprotID: O14531
geneSymbol: DPYSL4
reactome: R-HSA-399956;
pdb: 5NKS;
length: 572
go: ENSG00000151640;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Dihydropyrimidinase-related protein 4 (DRP-4) (Collapsin response mediator protein 3) (CRMP-3) (UNC33-like phosphoprotein 4) (ULIP-4)

sequence:

opentargets:
cytosol [GO:0005829]; filamin binding [GO:0031005]; hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds [GO:0016810]; nervous system development [GO:0007399]; neuron death [GO:0070997]; neuron projection guidance [GO:0097485]


uniprotID: Q9NR63
geneSymbol: CYP26B1
reactome: R-HSA-211916;R-HSA-5365859;R-HSA-5579015;
length: 512
go: ENSG00000003137;
name:
Cytochrome P450 26B1 (EC 1.14.13.-) (Cytochrome P450 26A2) (Cytochrome P450 retinoic acid-inactivating 2) (Cytochrome P450RAI-2) (Retinoic acid-metabolizing cytochrome)

sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; organelle membrane [GO:0031090]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen [GO:0016709]; retinoic acid 4-hydroxylase activity [GO:0008401]; retinoic acid binding [GO:0001972]; bone morphogenesis [GO:0060349]; cell fate determination [GO:0001709]; cellular response to retinoic acid [GO:0071300]; cornification [GO:0070268]; embryonic limb morphogenesis [GO:0030326]; establishment of skin barrier [GO:0061436]; establishment of T cell polarity [GO:0001768]; inflammatory response [GO:0006954]; kidney development [GO:0001822]; male meiotic nuclear division [GO:0007140]; negative regulation of retinoic acid receptor signaling pathway [GO:0048387]; oxidation-reduction process [GO:0055114]; positive regulation of gene expression [GO:0010628]; positive regulation of tongue muscle cell differentiation [GO:2001037]; proximal/distal pattern formation [GO:0009954]; regulation of T cell differentiation [GO:0045580]; response to vitamin A [GO:0033189]; retinoic acid catabolic process [GO:0034653]; retinoic acid receptor signaling pathway [GO:0048384]; spermatogenesis [GO:0007283]; sterol metabolic process [GO:0016125]; tongue morphogenesis [GO:0043587]; vitamin metabolic process [GO:0006766]; xenobiotic metabolic process [GO:0006805]

snps:
rs281875232 rs142999899 rs765423228 rs76025186 rs143738797 rs2241057 rs281875231 rs2286965 rs7568553 rs61751056 rs148075682 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NR63-1; Sequence=Displayed; Name=2; IsoId=Q9NR63-2; Sequence=VSP_042968; Name=3; IsoId=Q9NR63-3; Sequence=VSP_042967; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Microsome membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.


uniprotID: P06850
geneSymbol: CRH
reactome: R-HSA-373080;R-HSA-418555;
pdb: 1GO9;1GOE;3EHT;3EHU;
name: Corticoliberin (Corticotropin-releasing factor) (CRF) (Corticotropin-releasing hormone)
length: 196
go: ENSG00000147571;
drug: DB02952;DB01285;DB02556;
snps: rs748404250
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:P06296}.
sequence:
MRLPLLVSAGVLLVALLPCPPCRALLSRGPVPGARQAPQHPQPLDFFQPPPQSEQPQQPQARPVLLRMGEEYFLRLGNLNKSPAAPLSPASSLLAGGSGSRPSPEQATANFFRVLLQQLLLPRRSLDSPAALAERGARNALGGHQEAPERERRSEEPPISLDLTFHLLREVLEMARAEQLAQQAHSNRKLMEIIGK

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; perikaryon [GO:0043204]; varicosity [GO:0043196]; corticotropin-releasing hormone activity [GO:0017045]; corticotropin-releasing hormone receptor 1 binding [GO:0051430]; corticotropin-releasing hormone receptor 2 binding [GO:0051431]; hormone activity [GO:0005179]; neuropeptide hormone activity [GO:0005184]; signaling receptor binding [GO:0005102]; adrenal gland development [GO:0030325]; associative learning [GO:0008306]; cellular response to cocaine [GO:0071314]; cellular response to dexamethasone stimulus [GO:0071549]; chemical synaptic transmission [GO:0007268]; diterpenoid metabolic process [GO:0016101]; female pregnancy [GO:0007565]; G protein-coupled receptor signaling pathway [GO:0007186]; glucocorticoid biosynthetic process [GO:0006704]; hormone-mediated apoptotic signaling pathway [GO:0008628]; hypothalamus development [GO:0021854]; inflammatory response [GO:0006954]; ion homeostasis [GO:0050801]; learning or memory [GO:0007611]; locomotory exploration behavior [GO:0035641]; long-term synaptic potentiation [GO:0060291]; lung development [GO:0030324]; negative regulation of cell death [GO:0060548]; negative regulation of circadian sleep/wake cycle, REM sleep [GO:0042322]; negative regulation of epinephrine secretion [GO:0032811]; negative regulation of gene expression [GO:0010629]; negative regulation of glucagon secretion [GO:0070093]; negative regulation of luteinizing hormone secretion [GO:0033685]; negative regulation of norepinephrine secretion [GO:0010700]; negative regulation of systemic arterial blood pressure [GO:0003085]; parturition [GO:0007567]; positive regulation of behavioral fear response [GO:2000987]; positive regulation of calcium ion import [GO:0090280]; positive regulation of cAMP-mediated signaling [GO:0043950]; positive regulation of cell death [GO:0010942]; positive regulation of cell proliferation [GO:0008284]; positive regulation of circadian sleep/wake cycle, wakefulness [GO:0010841]; positive regulation of corticosterone secretion [GO:2000854]; positive regulation of corticotropin secretion [GO:0051461]; positive regulation of cortisol secretion [GO:0051464]; positive regulation of digestive system process [GO:0060456]; positive regulation of gene expression [GO:0010628]; positive regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0035774]; positive regulation of protein phosphorylation [GO:0001934]; regulation of NMDA receptor activity [GO:2000310]; regulation of serotonin secretion [GO:0014062]; response to corticosterone [GO:0051412]; response to estrogen [GO:0043627]; response to ethanol [GO:0045471]; response to ether [GO:0045472]; response to immobilization stress [GO:0035902]; response to pain [GO:0048265]; signal transduction [GO:0007165]; synaptic transmission, dopaminergic [GO:0001963]


uniprotID: Q9BU40
geneSymbol: CHRDL1
reactome: R-HSA-201451;R-HSA-381426;R-HSA-8957275;
name: Chordin-like protein 1 (Neuralin-1) (Neurogenesin-1) (Ventroptin)
length: 450
go: ENSG00000101938;
snps: rs387906713
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; BMP signaling pathway [GO:0030509]; cell differentiation [GO:0030154]; cellular protein metabolic process [GO:0044267]; compound eye development [GO:0048749]; eye development [GO:0001654]; negative regulation of BMP signaling pathway [GO:0030514]; nervous system development [GO:0007399]; ossification [GO:0001503]; post-translational protein modification [GO:0043687]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q9BU40-1; Sequence=Displayed; Name=2; IsoId=Q9BU40-2; Sequence=VSP_036469, VSP_036470; Name=3; IsoId=Q9BU40-3; Sequence=VSP_043260, VSP_043261, VSP_036470; Note=No experimental confirmation available.; Name=4; IsoId=Q9BU40-4; Sequence=VSP_043260, VSP_036469, VSP_036470; Name=5; IsoId=Q9BU40-5; Sequence=VSP_043260, VSP_036470; Note=No experimental confirmation available.; Name=6; IsoId=Q9BU40-6; Sequence=VSP_043260; 


uniprotID: Q969M2
geneSymbol: GJA10
reactome: R-HSA-112303;R-HSA-190861;
name: Gap junction alpha-10 protein (Connexin-62) (Cx62)
length: 543
go: ENSG00000135355;
sequence:

opentargets:
connexin complex [GO:0005922]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; gap junction channel activity [GO:0005243]; cell communication [GO:0007154]; detection of light stimulus involved in visual perception [GO:0050908]; gamete generation [GO:0007276]; synapse assembly [GO:0007416]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cell junction, gap junction {ECO:0000250}.


uniprotID: Q9H0B8
geneSymbol: CRISPLD2
reactome: R-HSA-6798695;
length: 497
go: ENSG00000103196;
snps: rs12051468 rs1297496215 rs721005
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
name:
Cysteine-rich secretory protein LCCL domain-containing 2 (Cysteine-rich secretory protein 11) (CRISP-11) (LCCL domain-containing cysteine-rich secretory protein 2)

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; ficolin-1-rich granule lumen [GO:1904813]; secretory granule lumen [GO:0034774]; transport vesicle [GO:0030133]; glycosaminoglycan binding [GO:0005539]; heparin binding [GO:0008201]; extracellular matrix organization [GO:0030198]; face morphogenesis [GO:0060325]; lung development [GO:0030324]; neutrophil degranulation [GO:0043312]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9H0B8-1; Sequence=Displayed; Name=2; IsoId=Q9H0B8-2; Sequence=VSP_020183; Note=No experimental confirmation available.; Name=3; IsoId=Q9H0B8-3; Sequence=VSP_020181, VSP_020182; Name=4; IsoId=Q9H0B8-4; Sequence=VSP_020178, VSP_020180; Note=No experimental confirmation available.; Name=5; IsoId=Q9H0B8-5; Sequence=VSP_020179; 


uniprotID: A8MYA2
geneSymbol: CXorf49; CXorf49B
name: Uncharacterized protein CXorf49
length: 514
go: ENSG00000215115;
sequence:


uniprotID: Q5T442
geneSymbol: GJC2
reactome: R-HSA-190861;
length: 439
go: ENSG00000198835;
snps: rs75469429 rs267606847 rs74315312 rs577325764 rs267606846 rs74315314 rs74315311 rs760502262
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
name:
Gap junction gamma-2 protein (Connexin-46.6) (Cx46.6) (Connexin-47) (Cx47) (Gap junction alpha-12 protein)

sequence:

opentargets:
connexin complex [GO:0005922]; gap junction [GO:0005921]; integral component of membrane [GO:0016021]; myelin sheath [GO:0043209]; paranode region of axon [GO:0033270]; perikaryon [GO:0043204]; proximal neuron projection [GO:1990769]; gap junction channel activity involved in cell communication by electrical coupling [GO:1903763]; brain development [GO:0007420]; cell communication by electrical coupling [GO:0010644]; cell-cell signaling [GO:0007267]; negative regulation of G1/S transition of mitotic cell cycle [GO:2000134]; positive regulation of calcium ion transmembrane transport [GO:1904427]; positive regulation of gene expression [GO:0010628]; positive regulation of oligodendrocyte progenitor proliferation [GO:0070447]; regulation of protein phosphorylation [GO:0001932]; response to toxic substance [GO:0009636]


uniprotID: P49238
geneSymbol: CX3CR1
reactome: R-HSA-380108;R-HSA-418594;
length: 355
go: ENSG00000168329;
snps: rs41535248 rs199811198 rs143001773 rs3732380 rs3732379 rs3732378
name:
CX3C chemokine receptor 1 (C-X3-C CKR-1) (CX3CR1) (Beta chemokine receptor-like 1) (CMK-BRL-1) (CMK-BRL1) (Fractalkine receptor) (G-protein coupled receptor 13) (V28)

sequence:

opentargets:
cell surface [GO:0009986]; dendritic tree [GO:0097447]; external side of plasma membrane [GO:0009897]; integral component of plasma membrane [GO:0005887]; neuron projection [GO:0043005]; neuronal cell body membrane [GO:0032809]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; C-C chemokine binding [GO:0019957]; C-C chemokine receptor activity [GO:0016493]; C-X3-C chemokine binding [GO:0019960]; C-X3-C chemokine receptor activity [GO:0016495]; chemokine binding [GO:0019956]; chemokine receptor activity [GO:0004950]; G protein-coupled peptide receptor activity [GO:0008528]; G protein-coupled receptor activity [GO:0004930]; autocrine signaling [GO:0035425]; calcium-mediated signaling [GO:0019722]; cell adhesion [GO:0007155]; cell chemotaxis [GO:0060326]; cell-cell signaling [GO:0007267]; cellular defense response [GO:0006968]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to transforming growth factor beta stimulus [GO:0071560]; chemotaxis [GO:0006935]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; innate immune response [GO:0045087]; leukocyte tethering or rolling [GO:0050901]; memory [GO:0007613]; negative regulation of angiogenesis [GO:0016525]; negative regulation of apoptotic signaling pathway [GO:2001234]; negative regulation of cell migration [GO:0030336]; negative regulation of hippocampal neuron apoptotic process [GO:0110091]; negative regulation of interleukin-1 beta production [GO:0032691]; negative regulation of long-term synaptic potentiation [GO:1900272]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; positive regulation of angiogenesis [GO:0045766]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of I-kappaB phosphorylation [GO:1903721]; positive regulation of neuroblast proliferation [GO:0002052]; positive regulation of neurogenesis [GO:0050769]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of protein kinase B signaling [GO:0051897]; regulation of microglial cell migration [GO:1904139]; regulation of neurogenesis [GO:0050767]; regulation of nitric oxide biosynthetic process [GO:0045428]; regulation of synaptic plasticity [GO:0048167]; regulation of tumor necrosis factor biosynthetic process [GO:0042534]; response to ischemia [GO:0002931]; response to wounding [GO:0009611]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P49238-1; Sequence=Displayed; Name=2; IsoId=P49238-2; Sequence=VSP_009681; Name=3; IsoId=P49238-3; Sequence=VSP_009682; Name=4; IsoId=P49238-4; Sequence=VSP_044595; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:9390561}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: P48165
geneSymbol: GJA8
reactome: R-HSA-190861;
name: Gap junction alpha-8 protein (Connexin-50) (Cx50) (Lens fiber protein MP70)
length: 433
go: ENSG00000121634;
snps: rs80358203 rs80358204 rs121434643 rs80358201 rs80358200 rs80358205 rs80358202
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
sequence:

opentargets:
connexin complex [GO:0005922]; integral component of plasma membrane [GO:0005887]; channel activity [GO:0015267]; gap junction channel activity [GO:0005243]; cell-cell signaling [GO:0007267]; lens development in camera-type eye [GO:0002088]; protein homooligomerization [GO:0051260]; visual perception [GO:0007601]


uniprotID: Q07092
geneSymbol: COL16A1
reactome: R-HSA-1442490;R-HSA-1650814;R-HSA-216083;R-HSA-8948216;
name: Collagen alpha-1(XVI) chain
length: 1604
go: ENSG00000084636;
snps: rs2228552 rs6699645 rs34770879
sequence:

opentargets:
collagen type XVI trimer [GO:0005597]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extracellular matrix structural constituent [GO:0005201]; extracellular matrix structural constituent conferring tensile strength [GO:0030020]; integrin binding [GO:0005178]; cell adhesion [GO:0007155]; cell adhesion mediated by integrin [GO:0033627]; cellular response to amino acid stimulus [GO:0071230]; extracellular matrix organization [GO:0030198]; female pregnancy [GO:0007565]; integrin activation [GO:0033622]; integrin-mediated signaling pathway [GO:0007229]; positive regulation of focal adhesion assembly [GO:0051894]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q07092-1; Sequence=Displayed; Name=2; IsoId=Q07092-2; Sequence=VSP_024259, VSP_024260; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:9022684}.


uniprotID: Q9ULV4
geneSymbol: CORO1C
name: Coronin-1C (Coronin-3) (hCRNN4)
length: 474
go: ENSG00000110880;
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cell cortex [GO:0005938]; flotillin complex [GO:0016600]; focal adhesion [GO:0005925]; lamellipodium [GO:0030027]; lateral plasma membrane [GO:0016328]; ruffle membrane [GO:0032587]; sarcolemma [GO:0042383]; sarcomere [GO:0030017]; synapse [GO:0045202]; actin filament binding [GO:0051015]; Rac GTPase binding [GO:0048365]; actin cytoskeleton organization [GO:0030036]; activation of GTPase activity [GO:0090630]; establishment of protein localization [GO:0045184]; negative regulation of epithelial cell migration [GO:0010633]; negative regulation of focal adhesion assembly [GO:0051895]; negative regulation of protein kinase activity by regulation of protein phosphorylation [GO:0044387]; negative regulation of protein phosphorylation [GO:0001933]; negative regulation of substrate adhesion-dependent cell spreading [GO:1900025]; neural crest cell migration [GO:0001755]; phagocytosis [GO:0006909]; positive regulation of lamellipodium morphogenesis [GO:2000394]; regulation of epithelial cell migration [GO:0010632]; regulation of fibroblast migration [GO:0010762]; regulation of focal adhesion assembly [GO:0051893]; regulation of protein phosphorylation [GO:0001932]; regulation of ruffle assembly [GO:1900027]; regulation of substrate adhesion-dependent cell spreading [GO:1900024]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9ULV4-1; Sequence=Displayed; Name=2; Synonyms=CRN2i2; IsoId=Q9ULV4-2; Sequence=VSP_047727; Name=3; Synonyms=CRN2i3; IsoId=Q9ULV4-3; Sequence=VSP_047728; Note=Exclusively expressed in well-differentiated myoblasts as well as in mature skeletal muscle.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12377779, ECO:0000269|PubMed:19651142, ECO:0000269|PubMed:25074804, ECO:0000269|PubMed:25925950}; Peripheral membrane protein {ECO:0000269|PubMed:19651142, ECO:0000269|PubMed:25074804, ECO:0000269|PubMed:25925950}; Cytoplasmic side {ECO:0000269|PubMed:19651142, ECO:0000269|PubMed:25074804, ECO:0000269|PubMed:25925950}. Cell projection, lamellipodium {ECO:0000269|PubMed:12377779, ECO:0000269|PubMed:19651142}. Cell projection, ruffle membrane {ECO:0000269|PubMed:25074804}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:10828594, ECO:0000269|PubMed:12377779, ECO:0000269|PubMed:19651142, ECO:0000269|PubMed:25074804}. Cytoplasm, cell cortex {ECO:0000269|PubMed:10828594, ECO:0000269|PubMed:19651142}. Note=All isoforms colocalize with the actin cytoskeleton in the cytosol, and especially in the cell cortex (PubMed:10828594, PubMed:19651142, PubMed:25074804). Colocalizes with F-actin at the leading edge of lamellipodia. Partially colocalizes with microtubules and vimentin intermediate filaments (By similarity). {ECO:0000250|UniProtKB:Q9WUM4, ECO:0000269|PubMed:10828594, ECO:0000269|PubMed:19651142, ECO:0000269|PubMed:25074804}.; SUBCELLULAR LOCATION: Isoform 3: Cell membrane, sarcolemma {ECO:0000269|PubMed:19651142}. Cytoplasm, myofibril, sarcomere {ECO:0000269|PubMed:19651142}. Cell junction, synapse {ECO:0000269|PubMed:19651142}. Cell membrane {ECO:0000269|PubMed:19651142}; Peripheral membrane protein {ECO:0000269|PubMed:19651142}; Cytoplasmic side {ECO:0000269|PubMed:19651142}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:19651142}. Cytoplasm, cell cortex {ECO:0000269|PubMed:19651142}. Note=Colocalizes with the thin filaments of the sarcomere and with the postsynaptic area and the junctional sarcoplasm of motor end plates. Colocalizes with the actin cytoskeleton in the cytosol, and especially in the cell cortex. {ECO:0000269|PubMed:19651142}.


uniprotID: Q5RI15
geneSymbol: COX20
reactome: R-HSA-5628897;R-HSA-611105;
name: Cytochrome c oxidase assembly protein COX20, mitochondrial
length: 118
go: ENSG00000203667;
snps: rs587777004 rs61749963
sequence:
MAAPPEPGEPEERKSLKLLGFLDVENTPCARHSILYGSLGSVVAGFGHFLFTSRIRRSCDVGVGGFILVTLGCWFHCRYNYAKQRIQERIAREEIKKKILYEGTHLDPERKHNGSSSN

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; aerobic respiration [GO:0009060]; mitochondrial respiratory chain complex IV assembly [GO:0033617]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5RI15-1; Sequence=Displayed; Name=2; IsoId=Q5RI15-2; Sequence=VSP_014855; Note=Gene prediction confirmed by EST data.; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:23125284, ECO:0000269|PubMed:29154948}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q86W10
geneSymbol: CYP4Z1
name: Cytochrome P450 4Z1 (EC 1.14.14.1) (CYPIVZ1)
length: 505
go: ENSG00000186160;
snps: rs28463559
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; organelle membrane [GO:0031090]; aromatase activity [GO:0070330]; heme binding [GO:0020037]; iron ion binding [GO:0005506]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15059886}; Single-pass type II membrane protein {ECO:0000269|PubMed:15059886}. Microsome membrane {ECO:0000269|PubMed:15059886}; Single-pass type II membrane protein {ECO:0000269|PubMed:15059886}.


uniprotID: Q6P387
geneSymbol: C16orf46
name: Uncharacterized protein C16orf46
length: 395
go: ENSG00000166455;
opentargets: cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]
snps: rs17855893 rs7198494 rs10459872 rs9930623 rs12929250
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6P387-1; Sequence=Displayed; Name=2; IsoId=Q6P387-2; Sequence=VSP_023435; 


uniprotID: P53672
geneSymbol: CRYBA2
name: Beta-crystallin A2 (Beta-A2 crystallin)
length: 197
go: ENSG00000163499;
snps: rs141631259
sequence:
MSSAPAPGPAPASLTLWDEEDFQGRRCRLLSDCANVCERGGLPRVRSVKVENGVWVAFEYPDFQGQQFILEKGDYPRWSAWSGSSSHNSNQLLSFRPVLCANHNDSRVTLFEGDNFQGCKFDLVDDYPSLPSMGWASKDVGSLKVSSGAWVAYQYPGYRGYQYVLERDRHSGEFCTYGELGTQAHTGQLQSIRRVQH

opentargets:
protein homodimerization activity [GO:0042803]; structural constituent of eye lens [GO:0005212]; lens development in camera-type eye [GO:0002088]


uniprotID: P01920
geneSymbol: HLA-DQB1
reactome: R-HSA-202424;R-HSA-202427;R-HSA-202430;R-HSA-202433;R-HSA-2132295;R-HSA-389948;R-HSA-877300;
pdb: 1JK8;1NBN;1S9V;1UVQ;2NNA;4GG6;4OZF;4OZG;4OZH;4OZI;
name: HLA class II histocompatibility antigen, DQ beta 1 chain (MHC class II antigen DQB1)
length: 261
drug: DB00071;
sequence:

opentargets:
clathrin-coated endocytic vesicle membrane [GO:0030669]; endocytic vesicle membrane [GO:0030666]; endosome membrane [GO:0010008]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; MHC class II protein complex [GO:0042613]; plasma membrane [GO:0005886]; trans-Golgi network membrane [GO:0032588]; transport vesicle membrane [GO:0030658]; MHC class II receptor activity [GO:0032395]; peptide antigen binding [GO:0042605]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; humoral immune response mediated by circulating immunoglobulin [GO:0002455]; immune response [GO:0006955]; immunoglobulin production involved in immunoglobulin mediated immune response [GO:0002381]; interferon-gamma-mediated signaling pathway [GO:0060333]; T cell receptor signaling pathway [GO:0050852]

snps:
rs1049056 rs1049057 rs3189152 rs3891176 rs1049059 rs1049060 rs1049060 rs1049062 rs1049061 rs1130366 rs12722106 rs9274407 rs56173496 rs1130375 rs1130368 rs41540813 rs766817072 rs41563539 rs9274405 rs281862065 rs281874782 rs45519640 rs1063318 rs1049083 rs9274398 rs9274397 rs41558214 rs9274395 rs1140313 rs1130380 rs1130380 rs1130380 rs1130381 rs1071637 rs1071637 rs41562414 rs1130382 rs41556215 rs9274390 rs41563814 rs9274390 rs1130386 rs1130390 rs1130387 rs9274384 rs1130392 rs1140316 rs1140317 rs9274380 rs9274380 rs9274379 rs1140320 rs1049100 rs1063322 rs41542812 rs41544112 rs9273989 rs63626961 rs2647032 rs9273981 rs1063323 rs9273952 rs9273948 rs701564 rs80255621 rs1130398 rs1130399 rs281864132 rs1130429 rs1049163 rs1140342 rs1140343 rs1130432 

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane protein. Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Note=The MHC class II complex transits through a number of intracellular compartments in the endocytic pathway until it reaches the cell membrane for antigen presentation.


uniprotID: P24387
geneSymbol: CRHBP
reactome: R-HSA-373080;
length: 322
go: ENSG00000145708;
location: SUBCELLULAR LOCATION: Secreted.
name:
Corticotropin-releasing factor-binding protein (CRF-BP) (CRF-binding protein) (Corticotropin-releasing hormone-binding protein) (CRH-BP)

sequence:

opentargets:
axon terminus [GO:0043679]; dendrite [GO:0030425]; dense core granule [GO:0031045]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; microtubule [GO:0005874]; multivesicular body [GO:0005771]; nucleus [GO:0005634]; perikaryon [GO:0043204]; secondary lysosome [GO:0005767]; secretory granule [GO:0030141]; varicosity [GO:0043196]; corticotropin-releasing hormone binding [GO:0051424]; peptide binding [GO:0042277]; behavioral response to ethanol [GO:0048149]; cellular response to calcium ion [GO:0071277]; cellular response to cAMP [GO:0071320]; cellular response to cocaine [GO:0071314]; cellular response to drug [GO:0035690]; cellular response to estradiol stimulus [GO:0071392]; cellular response to estrogen stimulus [GO:0071391]; cellular response to gonadotropin-releasing hormone [GO:0097211]; cellular response to potassium ion [GO:0035865]; cellular response to tumor necrosis factor [GO:0071356]; female pregnancy [GO:0007565]; hormone metabolic process [GO:0042445]; hormone-mediated signaling pathway [GO:0009755]; inflammatory response [GO:0006954]; learning or memory [GO:0007611]; maternal aggressive behavior [GO:0002125]; negative regulation of corticotropin secretion [GO:0051460]; negative regulation of corticotropin-releasing hormone receptor activity [GO:1900011]; regulated exocytosis [GO:0045055]; regulation of cellular response to stress [GO:0080135]; regulation of corticotropin secretion [GO:0051459]; regulation of NMDA receptor activity [GO:2000310]; signal transduction [GO:0007165]; synaptic transmission, dopaminergic [GO:0001963]


uniprotID: P41240
geneSymbol: CSK
pdb: 1BYG;1CSK;3D7T;3D7U;3EAC;3EAZ;
name: Tyrosine-protein kinase CSK (EC 2.7.10.2) (C-Src kinase) (Protein-tyrosine kinase CYL)
length: 450
go: ENSG00000103653;
drug: DB02010;DB05075;
snps: rs34866753 rs34616395 rs35556162
reactome:
R-HSA-180292;R-HSA-202427;R-HSA-354192;R-HSA-389948;R-HSA-5674135;R-HSA-6802946;R-HSA-6802948;R-HSA-6802949;R-HSA-6802952;R-HSA-6802955;

sequence:

opentargets:
cell-cell junction [GO:0005911]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; identical protein binding [GO:0042802]; kinase activity [GO:0016301]; metal ion binding [GO:0046872]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; proline-rich region binding [GO:0070064]; protein C-terminus binding [GO:0008022]; protein kinase A catalytic subunit binding [GO:0034236]; protein phosphatase binding [GO:0019903]; protein tyrosine kinase activity [GO:0004713]; adaptive immune response [GO:0002250]; adherens junction organization [GO:0034332]; brain development [GO:0007420]; cellular response to peptide hormone stimulus [GO:0071375]; negative regulation of bone resorption [GO:0045779]; negative regulation of cell proliferation [GO:0008285]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of Golgi to plasma membrane protein transport [GO:0042997]; negative regulation of interleukin-6 production [GO:0032715]; negative regulation of kinase activity [GO:0033673]; negative regulation of low-density lipoprotein particle clearance [GO:0010989]; negative regulation of phagocytosis [GO:0050765]; oligodendrocyte differentiation [GO:0048709]; positive regulation of MAP kinase activity [GO:0043406]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of Fc receptor mediated stimulatory signaling pathway [GO:0060368]; T cell costimulation [GO:0031295]; T cell receptor signaling pathway [GO:0050852]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell membrane {ECO:0000250}. Note=Mainly cytoplasmic, also present in lipid rafts. {ECO:0000250}.


uniprotID: Q92905
geneSymbol: COPS5
reactome: R-HSA-5696394;R-HSA-6781823;R-HSA-8856825;R-HSA-8951664;
pdb: 4D10;4D18;4F7O;4WSN;5JOG;5JOH;5M5Q;
length: 334
go: ENSG00000121022;
name:
COP9 signalosome complex subunit 5 (SGN5) (Signalosome subunit 5) (EC 3.4.-.-) (Jun activation domain-binding protein 1)

sequence:

opentargets:
cell junction [GO:0030054]; COP9 signalosome [GO:0008180]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; eukaryotic translation initiation factor 3 complex [GO:0005852]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; synaptic vesicle [GO:0008021]; enzyme binding [GO:0019899]; macrophage migration inhibitory factor binding [GO:0035718]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237]; NEDD8-specific protease activity [GO:0019784]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; transcription coactivator activity [GO:0003713]; translation initiation factor activity [GO:0003743]; exosomal secretion [GO:1990182]; negative regulation of apoptotic process [GO:0043066]; nucleotide-excision repair, DNA damage recognition [GO:0000715]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of transcription by RNA polymerase II [GO:0045944]; post-translational protein modification [GO:0043687]; protein deneddylation [GO:0000338]; protein deubiquitination [GO:0016579]; regulation of cell cycle [GO:0051726]; regulation of IRE1-mediated unfolded protein response [GO:1903894]; regulation of JNK cascade [GO:0046328]; transcription by RNA polymerase II [GO:0006366]; transcription-coupled nucleotide-excision repair [GO:0006283]; translation [GO:0006412]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:17050680, ECO:0000269|PubMed:20978819, ECO:0000269|PubMed:22609399, ECO:0000269|PubMed:9535219}. Nucleus {ECO:0000269|PubMed:17050680, ECO:0000269|PubMed:20978819, ECO:0000269|PubMed:22609399}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:9535219}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle {ECO:0000269|PubMed:21102408}. Note=Nuclear localization is diminished in the presence of IFIT3. {ECO:0000269|PubMed:17050680}.


uniprotID: P46108
geneSymbol: CRK
pdb: 1JU5;2DVJ;2EYV;2EYW;2EYX;2EYY;2EYZ;2MS4;5UL6;6ATV;
name: Adapter molecule crk (Proto-oncogene c-Crk) (p38)
length: 304
go: ENSG00000167193;
reactome:
R-HSA-170984;R-HSA-186763;R-HSA-2029482;R-HSA-372708;R-HSA-4420097;R-HSA-8849471;R-HSA-8875555;R-HSA-8875656;R-HSA-912631;

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane raft [GO:0045121]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; cytoskeletal protein binding [GO:0008092]; ephrin receptor binding [GO:0046875]; insulin-like growth factor receptor binding [GO:0005159]; phosphotyrosine residue binding [GO:0001784]; protein phosphorylated amino acid binding [GO:0045309]; protein self-association [GO:0043621]; protein tyrosine kinase binding [GO:1990782]; scaffold protein binding [GO:0097110]; SH2 domain binding [GO:0042169]; SH3 domain binding [GO:0017124]; SH3/SH2 adaptor activity [GO:0005070]; activation of MAPKK activity [GO:0000186]; cellular response to endothelin [GO:1990859]; cellular response to insulin-like growth factor stimulus [GO:1990314]; cellular response to nerve growth factor stimulus [GO:1990090]; cellular response to nitric oxide [GO:0071732]; cellular response to transforming growth factor beta stimulus [GO:0071560]; cytokine-mediated signaling pathway [GO:0019221]; ephrin receptor signaling pathway [GO:0048013]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; negative regulation of cell motility [GO:2000146]; negative regulation of natural killer cell mediated cytotoxicity [GO:0045953]; negative regulation of wound healing [GO:0061045]; positive regulation of cell growth [GO:0030307]; positive regulation of smooth muscle cell migration [GO:0014911]; positive regulation of substrate adhesion-dependent cell spreading [GO:1900026]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of cell shape [GO:0008360]; regulation of GTPase activity [GO:0043087]; regulation of protein binding [GO:0043393]; regulation of Rac protein signal transduction [GO:0035020]; regulation of signal transduction [GO:0009966]; regulation of transcription by RNA polymerase II [GO:0006357]; response to cholecystokinin [GO:0061847]; response to hepatocyte growth factor [GO:0035728]; response to hydrogen peroxide [GO:0042542]; response to yeast [GO:0001878]; SH2 domain-mediated complex assembly [GO:0071538]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Crk-II; IsoId=P46108-1; Sequence=Displayed; Name=Crk-I; IsoId=P46108-2; Sequence=VSP_041153, VSP_041154; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell membrane {ECO:0000250}. Note=Translocated to the plasma membrane upon cell adhesion. {ECO:0000250}.


uniprotID: P10635
geneSymbol: CYP2D6
reactome: R-HSA-211935;R-HSA-211958;R-HSA-211981;R-HSA-211999;R-HSA-9027307;
pdb: 2F9Q;3QM4;3TBG;3TDA;4WNT;4WNU;4WNV;4WNW;4XRY;4XRZ;5TFT;5TFU;
length: 497
go: ENSG00000100197;
name:
Cytochrome P450 2D6 (EC 1.14.14.1) (CYPIID6) (Cholesterol 25-hydroxylase) (Cytochrome P450-DB1) (Debrisoquine 4-hydroxylase)

sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; intracellular membrane-bounded organelle [GO:0043231]; mitochondrion [GO:0005739]; organelle membrane [GO:0031090]; aromatase activity [GO:0070330]; drug binding [GO:0008144]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; monooxygenase activity [GO:0004497]; oxidoreductase activity [GO:0016491]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen [GO:0016712]; steroid hydroxylase activity [GO:0008395]; alkaloid catabolic process [GO:0009822]; alkaloid metabolic process [GO:0009820]; arachidonic acid metabolic process [GO:0019369]; coumarin metabolic process [GO:0009804]; drug catabolic process [GO:0042737]; drug metabolic process [GO:0017144]; exogenous drug catabolic process [GO:0042738]; heterocycle metabolic process [GO:0046483]; isoquinoline alkaloid metabolic process [GO:0033076]; long-chain fatty acid biosynthetic process [GO:0042759]; monoterpenoid metabolic process [GO:0016098]; negative regulation of binding [GO:0051100]; negative regulation of cellular organofluorine metabolic process [GO:0090350]; organic acid metabolic process [GO:0006082]; oxidation-reduction process [GO:0055114]; oxidative demethylation [GO:0070989]; steroid metabolic process [GO:0008202]; xenobiotic metabolic process [GO:0006805]

drug:
DB01562;DB01472;DB05812;DB01193;DB00316;DB03128;DB01426;DB00918;DB06203;DB00866;DB01424;DB01118;DB00321;DB00381;DB00613;DB00543;DB00182;DB00701;DB00276;DB01435;DB01429;DB01274;DB01238;DB06697;DB06216;DB00637;DB00289;DB01076;DB00972;DB00245;DB06770;DB01244;DB00195;DB01128;DB04889;DB00810;DB00612;DB00188;DB09128;DB00835;DB06726;DB00297;DB00921;DB01156;DB00490;DB00201;DB01197;DB00748;DB06016;DB00521;DB01136;DB00482;DB00567;DB00439;DB00185;DB00475;DB00608;DB01114;DB00477;DB00356;DB00169;DB01410;DB01166;DB00501;DB01012;DB00568;DB00604;DB00215;DB00283;DB04920;DB00349;DB01242;DB00575;DB00257;DB00363;DB09065;DB00907;DB00318;DB00924;DB00531;DB00091;DB04839;DB06292;DB00496;DB09183;DB04840;DB00705;DB06512;DB01151;DB00967;DB01234;DB09555;DB01191;DB00633;DB06701;DB01576;DB00514;DB00647;DB01551;DB00343;DB01093;DB01075;DB00822;DB00757;DB01184;DB00843;DB00988;DB00590;DB01142;DB00997;DB04855;DB00476;DB00625;DB00216;DB09039;DB01228;DB06735;DB00494;DB08899;DB00751;DB00530;DB01175;DB06678;DB01466;DB01628;DB01023;DB00574;DB06702;DB00950;DB08868;DB01195;DB04841;DB00472;DB00623;DB01095;DB00176;DB00983;DB00674;DB00317;DB01437;DB08909;DB00889;DB01218;DB00502;DB01159;DB05381;DB00956;DB00327;DB01611;DB01005;DB00557;DB09053;DB01177;DB04946;DB00619;DB00458;DB00224;DB00332;DB01029;DB00951;DB01167;DB09570;DB01026;DB00598;DB00448;DB00528;DB01235;DB08918;DB13139;DB00281;DB00589;DB01206;DB00836;DB01601;DB00455;DB04871;DB00227;DB06708;DB00934;DB00358;DB00532;DB06691;DB01071;DB00933;DB00333;DB01577;DB00703;DB00763;DB01403;DB00553;DB01028;DB09543;DB06800;DB00422;DB01107;DB01233;DB00264;DB00379;DB06148;DB01388;DB01110;DB00211;DB00834;DB00805;DB08893;DB00370;DB01171;DB00295;DB09049;DB00731;DB04861;DB01149;DB00220;DB09048;DB00238;DB00627;DB00622;DB00699;DB02701;DB00184;DB01115;DB04868;DB00336;DB00540;DB00334;DB00338;DB00904;DB04938;DB01096;DB01580;DB01062;DB00497;DB06412;DB01192;DB01267;DB00377;DB06603;DB00715;DB06589;DB00022;DB00738;DB01186;DB01074;DB00850;DB00454;DB03783;DB00914;DB00191;DB01100;DB00960;DB01132;DB00592;DB01621;DB08901;DB00175;DB01058;DB01087;DB01035;DB00433;DB00396;DB01131;DB00420;DB01069;DB01182;DB00818;DB09396;DB00571;DB00344;DB00852;DB00205;DB01224;DB00908;DB00468;DB01129;DB00863;DB00243;DB00234;DB00409;DB01201;DB00734;DB00503;DB00989;DB09291;DB00268;DB00296;DB00412;DB05271;DB12332;DB01698;DB01232;DB01037;DB06144;DB01104;DB00203;DB00641;DB06819;DB00398;DB06727;DB09118;DB06820;DB00259;DB06729;DB00675;DB00706;DB06204;DB01079;DB00976;DB06287;DB00857;DB00342;DB04905;DB04844;DB00277;DB00679;DB01623;DB08816;DB00208;DB00373;DB01007;DB01409;DB00932;DB01036;DB05109;DB00193;DB00752;DB00656;DB00726;DB00792;DB00427;DB00209;DB09076;DB08881;DB00285;DB00661;DB06684;DB00570;DB00361;DB09068;DB01392;DB00549;DB00943;DB00246;DB00425;DB01624;

snps:
rs773790593 rs769258 rs138417770 rs28371696 rs138100349 rs1065852 rs5030862 rs267608310 rs28371703 rs28371704 rs76187628 rs28371706 rs1135822 rs375135093 rs569229126 rs28371710 rs5030865 rs5030866 rs567606867 rs371793722 rs17002853 rs28371717 rs16947 rs949717872 rs1058170 rs1800754 rs5030867 rs3915951 rs745746329 rs748712690 rs750996195 rs267608295 rs76088846 rs1058172 rs61737946 rs769157652 rs28371733 rs777560972 rs1135833 rs28371735 rs1135840 rs370580423 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P10635-1; Sequence=Displayed; Name=2; IsoId=P10635-2; Sequence=VSP_044486; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane {ECO:0000269|PubMed:21576599}; Peripheral membrane protein.


uniprotID: Q10570
geneSymbol: CPSF1
reactome: R-HSA-109688;R-HSA-159231;R-HSA-6784531;R-HSA-72163;R-HSA-72187;R-HSA-77595;
pdb: 6BLY;6BM0;6DNH;6F9N;6FBS;6FUW;
length: 1443
location: SUBCELLULAR LOCATION: Nucleus, nucleoplasm.
name:
Cleavage and polyadenylation specificity factor subunit 1 (Cleavage and polyadenylation specificity factor 160 kDa subunit) (CPSF 160 kDa subunit)

sequence:

opentargets:
mRNA cleavage and polyadenylation specificity factor complex [GO:0005847]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; enzyme binding [GO:0019899]; mRNA 3'-UTR AU-rich region binding [GO:0035925]; mRNA 3'-end processing [GO:0031124]; mRNA export from nucleus [GO:0006406]; mRNA polyadenylation [GO:0006378]; mRNA splicing, via spliceosome [GO:0000398]; pre-mRNA cleavage required for polyadenylation [GO:0098789]; termination of RNA polymerase II transcription [GO:0006369]


uniprotID: A2RUQ5
geneSymbol: C17orf102
name: Uncharacterized protein C17orf102
length: 167
snps: rs58529418 rs887230
sequence:
MFDFSFPTPASAGTRMGPASCGGRSLHLPQLRFSRVDATAVTDVPFQRMHAPHRAPEVFCSRSSRGAGRGHPTPTPRVRWALAGNQPRCCAQLLSGRGGSGAQLRAGWVRGAAVGNLFILLLGKEDGEEEGTVLSYSSMVHISNITGIVGTTVSRTKPALVLMELTF


uniprotID: Q6ZR85
geneSymbol: C17orf107
name: Uncharacterized protein C17orf107
length: 190
sequence:
MKGTPSSLDTLMWIYHFHSSTEVALQPPLLSSLELSVAAAHEYLEQRFRELKSLEPPEPKMQGMLPAPKPTLGLVLREATASLVSFGTTLLEISALWLQQEARRLDGSAGPAPDGRDPGAALSRVAQAAGQGVRQAGAAVGASARLLVQGAWLCLCGRGLQGSASFLRQSQQQLGLGIPGEPVSSGHGVS


uniprotID: Q13324
geneSymbol: CRHR2
reactome: R-HSA-373080;R-HSA-418555;R-HSA-422085;
pdb: 3N93;3N95;3N96;
length: 411
go: ENSG00000106113;
snps: rs34625936
name:
Corticotropin-releasing factor receptor 2 (CRF-R-2) (CRF-R2) (CRFR-2) (Corticotropin-releasing hormone receptor 2) (CRH-R-2) (CRH-R2)

sequence:

opentargets:
axon [GO:0030424]; axon terminus [GO:0043679]; dendrite [GO:0030425]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; corticotrophin-releasing factor receptor activity [GO:0015056]; corticotropin-releasing hormone receptor activity [GO:0043404]; peptide hormone binding [GO:0017046]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; cell surface receptor signaling pathway [GO:0007166]; G protein-coupled receptor signaling pathway [GO:0007186]; long-term synaptic potentiation [GO:0060291]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=CRF2-alpha; IsoId=Q13324-1; Sequence=Displayed; Name=CRF2-beta; IsoId=Q13324-2; Sequence=VSP_001999; Note=Contains a disulfide bond in positions 51-77.; Name=CRF2-gamma; IsoId=Q13324-3; Sequence=VSP_002000; Name=D; IsoId=Q13324-4; Sequence=VSP_053565; Name=E; IsoId=Q13324-5; Sequence=VSP_053566; Name=F; IsoId=Q13324-6; Sequence=VSP_053567; Name=desQ; IsoId=Q13324-7; Sequence=VSP_053564; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22689579}; Multi-pass membrane protein {ECO:0000269|PubMed:22689579}.


uniprotID: P52943
geneSymbol: CRIP2
pdb: 2CU8;
name: Cysteine-rich protein 2 (CRP-2) (Protein ESP1)
length: 208
go: ENSG00000182809;
sequence:

opentargets:
cell cortex [GO:0005938]; zinc ion binding [GO:0008270]; hemopoiesis [GO:0030097]; positive regulation of cell proliferation [GO:0008284]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P52943-1; Sequence=Displayed; Name=2; IsoId=P52943-2; Sequence=VSP_047074; 


uniprotID: Q8WXE0
geneSymbol: CASKIN2
pdb: 2KE9;4IS7;5L1M;
name: Caskin-2 (CASK-interacting protein 2)
length: 1202
go: ENSG00000177303;
opentargets: cytoplasm [GO:0005737]; membrane [GO:0016020]
snps: rs7503373
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WXE0-1; Sequence=Displayed; Name=2; IsoId=Q8WXE0-2; Sequence=VSP_040568; 


uniprotID: P05538
geneSymbol: HLA-DQB2
reactome: R-HSA-202424;R-HSA-202427;R-HSA-202430;R-HSA-202433;R-HSA-2132295;R-HSA-389948;R-HSA-877300;
length: 268
go: ENSG00000232629;
snps: rs1049110
name:
HLA class II histocompatibility antigen, DQ beta 2 chain (HLA class II histocompatibility antigen, DX beta chain) (MHC class II antigen DQB2)

sequence:

opentargets:
clathrin-coated endocytic vesicle membrane [GO:0030669]; endocytic vesicle membrane [GO:0030666]; endosome membrane [GO:0010008]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; lysosomal membrane [GO:0005765]; MHC class II protein complex [GO:0042613]; plasma membrane [GO:0005886]; trans-Golgi network membrane [GO:0032588]; transport vesicle membrane [GO:0030658]; MHC class II receptor activity [GO:0032395]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; immune response [GO:0006955]; interferon-gamma-mediated signaling pathway [GO:0060333]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P05538-1; Sequence=Displayed; Name=2; IsoId=P05538-2; Sequence=VSP_045914, VSP_045915; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22407913}; Single-pass type I membrane protein {ECO:0000269|PubMed:22407913}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:22407913}; Single-pass type I membrane protein {ECO:0000269|PubMed:22407913}. Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:22407913}; Single-pass type I membrane protein {ECO:0000269|PubMed:22407913}. Endosome membrane {ECO:0000269|PubMed:22407913}; Single-pass type I membrane protein {ECO:0000269|PubMed:22407913}. Lysosome membrane {ECO:0000269|PubMed:22407913}; Single-pass type I membrane protein {ECO:0000269|PubMed:22407913}. Note=The MHC class II complex transits through a number of intracellular compartments in the endocytic pathway until it reaches the cell membrane for antigen presentation.


uniprotID: Q86X51
geneSymbol: CXorf67
name: Uncharacterized protein CXorf67
length: 503
go: ENSG00000187690;
opentargets: nucleoplasm [GO:0005654]
snps: rs1875755
sequence:


uniprotID: P19875
geneSymbol: CXCL2
reactome: R-HSA-380108;R-HSA-418594;R-HSA-6783783;
pdb: 1QNK;5OB5;
length: 107
go: ENSG00000081041;
location: SUBCELLULAR LOCATION: Secreted.
name:
C-X-C motif chemokine 2 (Growth-regulated protein beta) (Gro-beta) (Macrophage inflammatory protein 2-alpha) (MIP2-alpha) [Cleaved into: GRO-beta(5-73) (GRO-beta-T) (Hematopoietic synergistic factor) (HSF) (SB-251353)]

sequence:
MARATLSAAPSNPRLLRVALLLLLLVAASRRAAGAPLATELRCQCLQTLQGIHLKNIQSVKVKSPGPHCAQTEVIATLKNGQKACLNPASPMVKKIIEKMLKNGKSN

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; chemokine activity [GO:0008009]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; cellular response to lipopolysaccharide [GO:0071222]; chemokine-mediated signaling pathway [GO:0070098]; chemotaxis [GO:0006935]; cytokine-mediated signaling pathway [GO:0019221]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; inflammatory response [GO:0006954]; killing of cells of other organism [GO:0031640]; leukocyte chemotaxis [GO:0030595]; neutrophil chemotaxis [GO:0030593]; response to molecule of bacterial origin [GO:0002237]


uniprotID: P53621
geneSymbol: COPA
reactome: R-HSA-6807878;R-HSA-6811434;
length: 1224
go: ENSG00000122218;
snps: rs864309710 rs794727993 rs794727995 rs794727994 rs34997807
name:
Coatomer subunit alpha (Alpha-coat protein) (Alpha-COP) (HEP-COP) (HEPCOP) [Cleaved into: Xenin (Xenopsin-related peptide); Proxenin]

sequence:

opentargets:
COPI vesicle coat [GO:0030126]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; Golgi membrane [GO:0000139]; membrane [GO:0016020]; transport vesicle [GO:0030133]; hormone activity [GO:0005179]; structural molecule activity [GO:0005198]; ER to Golgi vesicle-mediated transport [GO:0006888]; intra-Golgi vesicle-mediated transport [GO:0006891]; intracellular protein transport [GO:0006886]; pancreatic juice secretion [GO:0030157]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P53621-1; Sequence=Displayed; Name=2; IsoId=P53621-2; Sequence=VSP_035043; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Golgi apparatus membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Cytoplasmic vesicle, COPI-coated vesicle membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Note=The coatomer is cytoplasmic or polymerized on the cytoplasmic side of the Golgi, as well as on the vesicles/buds originating from it. {ECO:0000250}.; SUBCELLULAR LOCATION: Xenin: Secreted {ECO:0000250}.


uniprotID: Q96LL3
geneSymbol: C16orf92
name: Uncharacterized protein C16orf92
length: 132
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MGAGVGVAGCTRGHRNWVPSQLPPREIKAGVSLAVVTEFAWVLAPRPKRATASALGTESPRFLDRPDFFDYPDSDQARLLAVAQFIGEKPIVFINSGSSPGLFHHILVGLLVVAFFFLLFQFCTHINFQKGA

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96LL3-1; Sequence=Displayed; Name=2; IsoId=Q96LL3-2; Sequence=VSP_031783; 


uniprotID: O95741
geneSymbol: CPNE6
reactome: R-HSA-1483206;
name: Copine-6 (Copine VI) (Neuronal-copine) (N-copine)
length: 557
go: ENSG00000100884;
sequence:

opentargets:
axon [GO:0030424]; clathrin-coated endocytic vesicle [GO:0045334]; dendrite [GO:0030425]; endosome [GO:0005768]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; phosphatidylserine binding [GO:0001786]; transporter activity [GO:0005215]; cellular response to calcium ion [GO:0071277]; chemical synaptic transmission [GO:0007268]; glycerophospholipid biosynthetic process [GO:0046474]; lipid metabolic process [GO:0006629]; nervous system development [GO:0007399]; positive regulation of dendrite extension [GO:1903861]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95741-1; Sequence=Displayed; Name=2; IsoId=O95741-2; Sequence=VSP_054806; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9Z140}. Cell membrane {ECO:0000250|UniProtKB:Q9Z140}. Endosome {ECO:0000250|UniProtKB:Q9Z140}. Cytoplasmic vesicle, clathrin-coated vesicle {ECO:0000250|UniProtKB:Q9Z140}. Perikaryon {ECO:0000250|UniProtKB:Q9Z140}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q9Z140}. Note=Mainly cytoplasmic in absence of calcium. Associated predominantly with membranes in presence of calcium. Translocates to the cell membrane in a calcium-dependent manner. Colocalized with transferrin in intracellular clathrin-coated membrane vesicles in a calcium-dependent manner. {ECO:0000250|UniProtKB:Q9Z140}.


uniprotID: P53674
geneSymbol: CRYBB1
pdb: 1OKI;
name: Beta-crystallin B1 (Beta-B1 crystallin)
length: 252
go: ENSG00000100122;
opentargets: structural constituent of eye lens [GO:0005212]; visual perception [GO:0007601]
snps: rs1114167433
sequence:


uniprotID: Q17RY0
geneSymbol: CPEB4
pdb: 2MKI;2MKJ;5DIF;
name: Cytoplasmic polyadenylation element-binding protein 4 (CPE-BP4) (CPE-binding protein 4) (hCPEB-4)
length: 729
go: ENSG00000113742;
sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; dendrite [GO:0030425]; dendritic spine [GO:0043197]; endoplasmic reticulum [GO:0005783]; growth cone [GO:0030426]; messenger ribonucleoprotein complex [GO:1990124]; neuron projection [GO:0043005]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; synapse [GO:0045202]; metal ion binding [GO:0046872]; mRNA 3'-UTR binding [GO:0003730]; ribosome binding [GO:0043022]; RNA binding [GO:0003723]; translation factor activity, RNA binding [GO:0008135]; translation repressor activity, mRNA regulatory element binding [GO:0000900]; cellular response to amino acid stimulus [GO:0071230]; cellular response to decreased oxygen levels [GO:0036294]; cellular response to glucose starvation [GO:0042149]; ionotropic glutamate receptor signaling pathway [GO:0035235]; negative regulation of cytoplasmic translation [GO:2000766]; negative regulation of neuron apoptotic process [GO:0043524]; response to ischemia [GO:0002931]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q17RY0-1; Sequence=Displayed; Name=2; IsoId=Q17RY0-2; Sequence=VSP_022041; Name=3; IsoId=Q17RY0-3; Sequence=VSP_022040, VSP_022042; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q7TN98}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q7TN98}. Cell projection, dendritic spine {ECO:0000250|UniProtKB:Q7TN98}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250|UniProtKB:Q7TN98}. Cell projection, axon {ECO:0000250|UniProtKB:Q7TN98}. Cell projection, growth cone {ECO:0000250|UniProtKB:Q7TN98}. Endoplasmic reticulum {ECO:0000250|UniProtKB:Q7TN98}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:Q7TN98}.


uniprotID: Q07973
geneSymbol: CYP24A1
reactome: R-HSA-196791;R-HSA-211916;R-HSA-5579010;
length: 514
go: ENSG00000019186;
drug: DB00146;DB02300;DB00136;DB01285;DB05024;DB00153;DB00910;
snps: rs35051736 rs387907322 rs387907324 rs6022990 rs114368325 rs6068812
location: SUBCELLULAR LOCATION: Mitochondrion.
name:
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial (24-OHase) (Vitamin D(3) 24-hydroxylase) (EC 1.14.15.16) (Cytochrome P450 24A1) (Cytochrome P450-CC24)

sequence:

opentargets:
mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity [GO:0030342]; 25-hydroxycholecalciferol-24-hydroxylase activity [GO:0008403]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; oxidoreductase activity [GO:0016491]; osteoblast differentiation [GO:0001649]; oxidation-reduction process [GO:0055114]; response to vitamin D [GO:0033280]; vitamin D catabolic process [GO:0042369]; vitamin D metabolic process [GO:0042359]; vitamin D receptor signaling pathway [GO:0070561]; vitamin metabolic process [GO:0006766]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q07973-1; Sequence=Displayed; Name=2; IsoId=Q07973-2; Sequence=VSP_043101; Note=No experimental confirmation available.; Name=3; Synonyms=CYP24-SV; IsoId=Q07973-3; Sequence=VSP_053367, VSP_053368; Note=Specifically expressed in macrophages. Lacks the transit peptide. May be a dominant negative-acting isoform possibly by sequestering vitamin D metabolites.; 


uniprotID: Q8TCG5
geneSymbol: CPT1C
pdb: 2M76;
length: 803
go: ENSG00000169169;
snps: rs786204767
name:
Carnitine O-palmitoyltransferase 1, brain isoform (CPT1-B) (EC 2.3.1.21) (CPT IC) (Carnitine O-palmitoyltransferase I, brain isoform) (CPTI-B) (Carnitine palmitoyltransferase 1C)

sequence:

opentargets:
AMPA glutamate receptor complex [GO:0032281]; axon [GO:0030424]; cell junction [GO:0030054]; dendrite [GO:0030425]; endoplasmic reticulum [GO:0005783]; glutamatergic synapse [GO:0098978]; integral component of endoplasmic reticulum membrane [GO:0030176]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; postsynapse [GO:0098794]; carnitine O-palmitoyltransferase activity [GO:0004095]; carnitine metabolic process [GO:0009437]; fatty acid beta-oxidation [GO:0006635]; long-chain fatty acid transport [GO:0015909]; regulation of postsynaptic membrane neurotransmitter receptor levels [GO:0099072]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8TCG5-1; Sequence=Displayed; Name=2; IsoId=Q8TCG5-2; Sequence=VSP_010677; Note=No experimental confirmation available.; Name=3; IsoId=Q8TCG5-3; Sequence=VSP_012457; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cell junction, synapse {ECO:0000250|UniProtKB:Q8BGD5}. Cell projection, dendrite {ECO:0000269|PubMed:25751282}. Cell projection, axon {ECO:0000269|PubMed:25751282}. Endoplasmic reticulum {ECO:0000250|UniProtKB:Q8BGD5}. Note=Localized in the soma and dendritic and axonal projections. {ECO:0000269|PubMed:25751282}.


uniprotID: Q03060
geneSymbol: CREM
reactome: R-HSA-400253;
name: cAMP-responsive element modulator (Inducible cAMP early repressor) (ICER)
length: 345
go: ENSG00000095794;
snps: rs1804604
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; cAMP response element binding protein binding [GO:0008140]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; cell differentiation [GO:0030154]; fatty acid metabolic process [GO:0006631]; glucose metabolic process [GO:0006006]; glycosphingolipid metabolic process [GO:0006687]; multicellular organism development [GO:0007275]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of circadian rhythm [GO:0042752]; regulation of transcription, DNA-templated [GO:0006355]; retinoic acid receptor signaling pathway [GO:0048384]; rhythmic process [GO:0048511]; signal transduction [GO:0007165]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=29;  Name=1; Synonyms=CREM-BCEFGgammaHIbeta; IsoId=Q03060-5; Sequence=Displayed; Note=Produced by alternative promoter usage.; Name=2; Synonyms=Beta, CREM-BCEFGHIbeta; IsoId=Q03060-1; Sequence=VSP_059705, VSP_059715; Note=Produced by alternative splicing of isoform 1. Activator.; Name=3; Synonyms=CREM-BCEFGIalpha, Tau; IsoId=Q03060-6; Sequence=VSP_059705, VSP_059715, VSP_059717; Note=Produced by alternative splicing of isoform 1. Activator.; Name=4; Synonyms=Alpha, CREM-BEFHIb, CREM-gamma; IsoId=Q03060-2; Sequence=VSP_059705, VSP_059708, VSP_059709; Note=Produced by alternative splicing of isoform 1.; Name=5; Synonyms=CREM-theta2tau-gamma, CREM-theta2EFGHIb; IsoId=Q03060-7; Sequence=VSP_059704, VSP_059715; Note=Produced by alternative promoter usage. Activator.; Name=6; Synonyms=CREM2alpha-a, IcergammaHIalpha, ICER1, ICERI; IsoId=Q03060-8; Sequence=VSP_059701, VSP_059717; Note=Produced by alternative promoter usage. Repressor. {ECO:0000305}; Name=7; Synonyms=CREM2alpha-b, IcerHIalpha, ICERIgamma; IsoId=Q03060-9; Sequence=VSP_059698, VSP_059717; Note=Produced by alternative splicing of isoform 6. Repressor.; Name=8; Synonyms=CREM 2beta-a, IcergammaHIbeta, ICERII; IsoId=Q03060-10; Sequence=VSP_059701; Note=Produced by alternative splicing of isoform 6. Repressor. {ECO:0000305}; Name=9; Synonyms=CREM 2beta-b, IcerHIbeta, ICERIIgamma; IsoId=Q03060-11; Sequence=VSP_059698; Note=Produced by alternative splicing of isoform 6. Repressor.; Name=10; Synonyms=CREMtheta1tau2beta, CREM-theta1EFGHIbeta; IsoId=Q03060-12; Sequence=VSP_059703, VSP_059715; Note=Produced by alternative promoter usage. Activator.; Name=11; Synonyms=CREM-theta1beta, CREM-theta1EFHIbeta; IsoId=Q03060-13; Sequence=VSP_059703, VSP_059712, VSP_059716; Note=Produced by alternative splicing of isoform 10. Repressor.; Name=12; Synonyms=CREM-theta2beta, CREM-theta2EFHIb, CREM-theta2-gamma; IsoId=Q03060-14; Sequence=VSP_059704, VSP_059712, VSP_059716; Note=Produced by alternative splicing of isoform 5. Repressor.; Name=13; Synonyms=CREM-BEFGgammaHIbeta; IsoId=Q03060-15; Sequence=VSP_059705, VSP_059708; Note=Produced by alternative splicing of isoform 1. Activator.; Name=14; Synonyms=CREM-tau2-gamma, CREM-BEFGHIbeta; IsoId=Q03060-16; Sequence=VSP_059705, VSP_059708, VSP_059715; Note=Produced by alternative splicing of isoform 1. Activator.; Name=15; Synonyms=CREM-BGHIbeta; IsoId=Q03060-17; Sequence=VSP_059705, VSP_059707, VSP_059715; Note=Produced by alternative splicing of isoform 1. Repressor.; Name=16; Synonyms=CREM-deltaC-G, CREM-BgammaHIbeta; IsoId=Q03060-19; Sequence=VSP_059705, VSP_059706; Note=Produced by alternative splicing of isoform 1. Repressor.; Name=17; Synonyms=CREM-BHIbeta; IsoId=Q03060-20; Sequence=VSP_059705, VSP_059710; Note=Produced by alternative splicing of isoform 1. Repressor.; Name=18; Synonyms=CREM-BHIalpha; IsoId=Q03060-21; Sequence=VSP_059705, VSP_059710, VSP_059717; Note=Produced by alternative splicing of isoform 1. Repressor.; Name=19; Synonyms=CREM-theta1tau2gamma, CREM-theta1EFGgammaHIbeta; IsoId=Q03060-22; Sequence=VSP_059703; Note=Produced by alternative splicing of isoform 10. Activator.; Name=20; IsoId=Q03060-23; Sequence=VSP_059699, VSP_059717; Note=No experimental confirmation available.; Name=21; IsoId=Q03060-24; Sequence=VSP_059697, VSP_059717; Note=No experimental confirmation available.; Name=22; IsoId=Q03060-25; Sequence=VSP_059708, VSP_059713, VSP_059714; Note=No experimental confirmation available.; Name=23; IsoId=Q03060-26; Sequence=VSP_059705, VSP_059708, VSP_059711, VSP_059717; Name=24; IsoId=Q03060-27; Sequence=VSP_059697; Note=Produced by alternative splicing.; Name=25; IsoId=Q03060-28; Sequence=VSP_059702, VSP_059715; Note=Produced by alternative splicing.; Name=26; IsoId=Q03060-29; Sequence=VSP_059700; Note=Produced by alternative splicing.; Name=27; IsoId=Q03060-30; Sequence=VSP_059708, VSP_059709; Note=Produced by alternative splicing.; Name=28; IsoId=Q03060-31; Sequence=VSP_059705, VSP_059708, VSP_059715, VSP_059717; Note=Produced by alternative splicing. No experimental confirmation available.; Name=29; IsoId=Q03060-32; Sequence=VSP_059705, VSP_059708, VSP_059709, VSP_059717; Note=Produced by alternative splicing. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus.; SUBCELLULAR LOCATION: Isoform 6: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.


uniprotID: Q6Q6R5
geneSymbol: CRIP3
name: Cysteine-rich protein 3 (CRP-3) (Chromosome 6 LIM domain only protein) (h6LIMo)
length: 217
go: ENSG00000146215;
opentargets: cytoplasm [GO:0005737]; metal ion binding [GO:0046872]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=C; IsoId=Q6Q6R5-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q6Q6R5-2; Sequence=VSP_017392; Name=3; Synonyms=A; IsoId=Q6Q6R5-3; Sequence=VSP_017393; Name=4; Synonyms=D; IsoId=Q6Q6R5-4; Sequence=VSP_017391; 


uniprotID: A5YM72
geneSymbol: CARNS1
reactome: R-HSA-70921;
name: Carnosine synthase 1 (EC 6.3.2.11) (ATP-grasp domain-containing protein 1)
length: 827
go: ENSG00000172508;
snps: rs868167 rs17853668
sequence:

opentargets:
cytosol [GO:0005829]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; carnosine synthase activity [GO:0047730]; FMN binding [GO:0010181]; homocarnosine synthase activity [GO:0102102]; metal ion binding [GO:0046872]; carnosine biosynthetic process [GO:0035499]; histidine catabolic process [GO:0006548]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=A5YM72-1; Sequence=Displayed; Name=2; IsoId=A5YM72-2; Sequence=VSP_032925; Name=3; IsoId=A5YM72-3; Sequence=VSP_032926; Note=No experimental confirmation available.; Name=4; IsoId=A5YM72-4; Sequence=VSP_053735, VSP_053736; Note=No experimental confirmation available. {ECO:0000305}; Name=5; IsoId=A5YM72-5; Sequence=VSP_053735; Note=No experimental confirmation available.; 


uniprotID: Q96PZ7
geneSymbol: CSMD1
pdb: 2EHF;
name: CUB and sushi domain-containing protein 1 (CUB and sushi multiple domains protein 1)
length: 3564
go: ENSG00000183117;
snps: rs6995799 rs34079122 rs34337712 rs11984691 rs573209145
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; glucose homeostasis [GO:0042593]; startle response [GO:0001964]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96PZ7-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q96PZ7-2; Sequence=VSP_009034, VSP_009035; Name=3; IsoId=Q96PZ7-3; Sequence=VSP_009030, VSP_009031; Note=No experimental confirmation available.; Name=4; IsoId=Q96PZ7-4; Sequence=VSP_009032, VSP_009033; 


uniprotID: Q9P013
geneSymbol: CWC15
reactome: R-HSA-72163;
pdb: 5MQF;5XJC;5YZG;5Z56;5Z57;5Z58;6FF4;
name: Spliceosome-associated protein CWC15 homolog
length: 229
go: ENSG00000150316;
sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; mitochondrion [GO:0005739]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spliceosomal complex [GO:0005681]; U2-type catalytic step 2 spliceosome [GO:0071007]; RNA binding [GO:0003723]; mRNA cis splicing, via spliceosome [GO:0045292]; mRNA splicing, via spliceosome [GO:0000398]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20176811, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770}.


uniprotID: Q9H336
geneSymbol: CRISPLD1
length: 500
go: ENSG00000121005;
snps: rs1945
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Cysteine-rich secretory protein LCCL domain-containing 1 (CocoaCrisp) (Cysteine-rich secretory protein 10) (CRISP-10) (LCCL domain-containing cysteine-rich secretory protein 1) (Trypsin inhibitor Hl)

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; face morphogenesis [GO:0060325]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H336-1; Sequence=Displayed; Name=2; IsoId=Q9H336-2; Sequence=VSP_055281, VSP_055282; Note=No experimental confirmation available.; 


uniprotID: Q02221
geneSymbol: COX6A2
sequence: MALPLRPLTRGLASAAKGGHGGAGARTWRLLTFVLALPSVALCTFNSYLHSGHRPRPEFRPYQHLRIRTKPYPWGDGNHTLFHNSHVNPLPTGYEHP
length: 97
go: ENSG00000156885;
drug: DB02659;DB04464;
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane.
name:
Cytochrome c oxidase subunit 6A2, mitochondrial (Cytochrome c oxidase polypeptide VIa-heart) (COXVIAH) (Cytochrome c oxidase subunit VIA-muscle) (COX VIa-M)

opentargets:
mitochondrial respiratory chain complex IV [GO:0005751]; cytochrome-c oxidase activity [GO:0004129]; enzyme regulator activity [GO:0030234]; aerobic respiration [GO:0009060]; generation of precursor metabolites and energy [GO:0006091]; mitochondrial electron transport, cytochrome c to oxygen [GO:0006123]


uniprotID: Q9Y5Q5
geneSymbol: CORIN
reactome: R-HSA-5578768;
length: 1042
go: ENSG00000145244;
snps: rs2289433 rs387906894 rs13105608 rs387906895 rs11934749
name:
Atrial natriuretic peptide-converting enzyme (EC 3.4.21.-) (Corin) (Heart-specific serine proteinase ATC2) (Pro-ANP-converting enzyme) (Transmembrane protease serine 10) [Cleaved into: Atrial natriuretic peptide-converting enzyme, N-terminal propeptide; Atrial natriuretic peptide-converting enzyme, activated protease fragment; Atrial natriuretic peptide-converting enzyme, 180 kDa soluble fragment; Atrial natriuretic peptide-converting enzyme, 160 kDa soluble fragment; Atrial natriuretic peptide-converting enzyme, 100 kDa soluble fragment]

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cell surface [GO:0009986]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; nuclear body [GO:0016604]; plasma membrane [GO:0005886]; serine-type endopeptidase activity [GO:0004252]; female pregnancy [GO:0007565]; peptide hormone processing [GO:0016486]; regulation of blood pressure [GO:0008217]; regulation of cardiac conduction [GO:1903779]; regulation of renal sodium excretion [GO:0035813]; regulation of systemic arterial blood pressure by atrial natriuretic peptide [GO:0003050]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=E1, hE1; IsoId=Q9Y5Q5-1; Sequence=Displayed; Name=2; Synonyms=E1a, hE1a; IsoId=Q9Y5Q5-2; Sequence=VSP_043952; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19751717, ECO:0000269|PubMed:21288900, ECO:0000269|PubMed:21518754}; Single-pass type II membrane protein {ECO:0000269|PubMed:19751717, ECO:0000269|PubMed:21288900, ECO:0000269|PubMed:21518754}. Note=May easily detached from the endothelial cell membrane.; SUBCELLULAR LOCATION: Isoform 2: Cell membrane; Single-pass type II membrane protein. Note=Less efficiently targeted to the cell membrane compared to isoform 1.; SUBCELLULAR LOCATION: Atrial natriuretic peptide-converting enzyme, 180 kDa soluble fragment: Secreted. Note=Soluble form produced following cleavage by ADAM10.; SUBCELLULAR LOCATION: Atrial natriuretic peptide-converting enzyme, 160 kDa soluble fragment: Secreted. Note=Soluble form produced following autocatalytic cleavage.; SUBCELLULAR LOCATION: Atrial natriuretic peptide-converting enzyme, 100 kDa soluble fragment: Secreted. Note=Soluble form produced following autocatalytic cleavage.


uniprotID: Q9Y6G5
geneSymbol: COMMD10
reactome: R-HSA-8951664;
name: COMM domain-containing protein 10
length: 202
go: ENSG00000145781;
opentargets: cytoplasm [GO:0005737]; nucleus [GO:0005634]
snps: rs1129495
sequence:

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21778237}. Nucleus {ECO:0000269|PubMed:21778237}.


uniprotID: Q7Z3J2
geneSymbol: C16orf62
reactome: R-HSA-6798695;
name: UPF0505 protein C16orf62 (Esophageal cancer-associated protein)
length: 963
go: ENSG00000103544;
snps: rs17854969 rs7206637 rs17854970
sequence:

opentargets:
early endosome [GO:0005769]; ficolin-1-rich granule membrane [GO:0101003]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; Golgi to plasma membrane transport [GO:0006893]; neutrophil degranulation [GO:0043312]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z3J2-1; Sequence=Displayed; Name=2; IsoId=Q7Z3J2-2; Sequence=VSP_029536, VSP_029537, VSP_029538; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Early endosome {ECO:0000305|PubMed:25355947}.


uniprotID: Q8N684
geneSymbol: CPSF7
reactome: R-HSA-109688;R-HSA-72163;R-HSA-72187;R-HSA-77595;
pdb: 3N9U;
length: 471
go: ENSG00000149532;
name:
Cleavage and polyadenylation specificity factor subunit 7 (Cleavage and polyadenylation specificity factor 59 kDa subunit) (CPSF 59 kDa subunit) (Cleavage factor Im complex 59 kDa subunit) (CFIm59) (Pre-mRNA cleavage factor Im 59 kDa subunit)

sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; mRNA cleavage and polyadenylation specificity factor complex [GO:0005847]; mRNA cleavage factor complex [GO:0005849]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA binding [GO:0003723]; messenger ribonucleoprotein complex assembly [GO:1990120]; mRNA 3'-end processing [GO:0031124]; mRNA alternative polyadenylation [GO:0110104]; mRNA splicing, via spliceosome [GO:0000398]; pre-mRNA cleavage required for polyadenylation [GO:0098789]; protein heterotetramerization [GO:0051290]; protein tetramerization [GO:0051262]; termination of RNA polymerase II transcription [GO:0006369]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N684-1; Sequence=Displayed; Name=2; IsoId=Q8N684-2; Sequence=VSP_017194; Name=3; IsoId=Q8N684-3; Sequence=VSP_038975; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19864460, ECO:0000305|PubMed:20695905}. Cytoplasm {ECO:0000269|PubMed:19864460}. Note=Shuttles between the nucleus and the cytoplasm in a transcription- and XPO1/CRM1-independent manner, most probably in complex with the cleavage factor Im complex (CFIm) (PubMed:19864460). {ECO:0000269|PubMed:19864460}.


uniprotID: Q8N123
geneSymbol: CPXCR1
name: CPX chromosomal region candidate gene 1 protein (Cancer/testis antigen 77) (CT77)
length: 301
go: ENSG00000147183;
opentargets: nucleic acid binding [GO:0003676]
snps: rs5940915 rs5984611
sequence:


uniprotID: P53673
geneSymbol: CRYBA4
pdb: 3LWK;
name: Beta-crystallin A4 (Beta-A4 crystallin)
length: 196
go: ENSG00000196431;
snps: rs35520672 rs1114167427 rs74315487 rs4277 rs74315486
sequence:
MTLQCTKSAGPWKMVVWDEDGFQGRRHEFTAECPSVLELGFETVRSLKVLSGAWVGFEHAGFQGQQYILERGEYPSWDAWGGNTAYPAERLTSFRPAACANHRDSRLTIFEQENFLGKKGELSDDYPSLQAMGWEGNEVGSFHVHSGAWVCSQFPGYRGFQYVLECDHHSGDYKHFREWGSHAPTFQVQSIRRIQQ

opentargets:
structural constituent of eye lens [GO:0005212]; camera-type eye development [GO:0043010]; visual perception [GO:0007601]


uniprotID: A4D0V7
geneSymbol: CPED1
name: Cadherin-like and PC-esterase domain-containing protein 1
length: 1026
go: ENSG00000106034;
opentargets: endoplasmic reticulum [GO:0005783]
snps: rs17143165 rs41281692 rs35793694 rs798911
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A4D0V7-1; Sequence=Displayed; Name=2; IsoId=A4D0V7-2; Sequence=VSP_031140, VSP_031141; Note=No experimental confirmation available.; 


uniprotID: P34998
geneSymbol: CRHR1
reactome: R-HSA-373080;R-HSA-418555;
pdb: 2L27;3EHS;3EHT;3EHU;4K5Y;4Z9G;
length: 444
go: ENSG00000120088;ENSG00000263715;
drug: DB09067;
name:
Corticotropin-releasing factor receptor 1 (CRF-R-1) (CRF-R1) (CRFR-1) (Corticotropin-releasing hormone receptor 1) (CRH-R-1) (CRH-R1)

sequence:

opentargets:
endosome [GO:0005768]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; intrinsic component of plasma membrane [GO:0031226]; plasma membrane [GO:0005886]; corticotrophin-releasing factor receptor activity [GO:0015056]; corticotropin-releasing hormone binding [GO:0051424]; corticotropin-releasing hormone receptor activity [GO:0043404]; peptide hormone binding [GO:0017046]; activation of adenylate cyclase activity [GO:0007190]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; cell surface receptor signaling pathway [GO:0007166]; cellular response to corticotropin-releasing hormone stimulus [GO:0071376]; corticotropin secretion [GO:0051458]; female pregnancy [GO:0007565]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; negative regulation of voltage-gated calcium channel activity [GO:1901386]; parturition [GO:0007567]; regulation of adenylate cyclase activity involved in G protein-coupled receptor signaling pathway [GO:0010578]; regulation of corticosterone secretion [GO:2000852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=CRF-R1; IsoId=P34998-1; Sequence=Displayed; Name=CRF-R2; IsoId=P34998-2; Sequence=VSP_001997; Note=Major isoform.; Name=CRF-R3; IsoId=P34998-3; Sequence=VSP_001996, VSP_001997; Note=Does not bind to CRF with high affinity.; Name=CRF-R4; Synonyms=1D; IsoId=P34998-4; Sequence=VSP_001997, VSP_001998; Name=5; IsoId=P34998-5; Sequence=VSP_045434; 

location:
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Endosome. Note=Agonist-binding promotes endocytosis.


uniprotID: Q8IUR6
geneSymbol: CREBRF
reactome: R-HSA-8874211;
name: CREB3 regulatory factor (Luman recruitment factor) (LRF)
length: 639
go: ENSG00000164463;
snps: rs17854147
sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; endoplasmic reticulum unfolded protein response [GO:0030968]; maternal behavior [GO:0042711]; negative regulation of endoplasmic reticulum unfolded protein response [GO:1900102]; negative regulation of glucocorticoid mediated signaling pathway [GO:1900170]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of intracellular transport [GO:0032388]; positive regulation of prolactin signaling pathway [GO:1902213]; positive regulation of protein catabolic process [GO:0045732]; positive regulation of protein transport [GO:0051222]; positive regulation of transcription by RNA polymerase II [GO:0045944]; response to endoplasmic reticulum stress [GO:0034976]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IUR6-1; Sequence=Displayed; Name=2; IsoId=Q8IUR6-2; Sequence=VSP_027601, VSP_027602; Name=3; IsoId=Q8IUR6-3; Sequence=VSP_027603; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18391022}. Note=Colocalizes with CREB3 in nuclear foci.


uniprotID: O75629
geneSymbol: CREG1
reactome: R-HSA-6798695;
pdb: 1XHN;
name: Protein CREG1 (Cellular repressor of E1A-stimulated genes 1)
length: 220
go: ENSG00000143162;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:10815803}.
sequence:

opentargets:
azurophil granule lumen [GO:0035578]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; transcription factor complex [GO:0005667]; cofactor binding [GO:0048037]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; cell proliferation [GO:0008283]; multicellular organism development [GO:0007275]; neutrophil degranulation [GO:0043312]; regulation of growth [GO:0040008]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: Q6UX04
geneSymbol: CWC27
reactome: R-HSA-72163;
pdb: 2HQ6;4R3E;5Z56;5Z58;6FF4;
length: 472
go: ENSG00000153015;
snps: rs7735338
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305|PubMed:29360106}.
name:
Spliceosome-associated protein CWC27 homolog (Antigen NY-CO-10) (Probable inactive peptidyl-prolyl cis-trans isomerase CWC27 homolog) (PPIase CWC27) (Serologically defined colon cancer antigen 10)

sequence:

opentargets:
catalytic step 1 spliceosome [GO:0071012]; catalytic step 2 spliceosome [GO:0071013]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; peptidyl-prolyl cis-trans isomerase activity [GO:0003755]; mRNA splicing, via spliceosome [GO:0000398]; protein folding [GO:0006457]; protein peptidyl-prolyl isomerization [GO:0000413]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6UX04-1; Sequence=Displayed; Name=2; IsoId=Q6UX04-2; Sequence=VSP_030082, VSP_030083; 


uniprotID: P12074
geneSymbol: COX6A1
reactome: R-HSA-5628897;R-HSA-611105;
length: 109
go: ENSG00000111775;
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane.
name:
Cytochrome c oxidase subunit 6A1, mitochondrial (Cytochrome c oxidase polypeptide VIa-liver) (Cytochrome c oxidase subunit VIA-liver) (COX VIa-L)

sequence:
MAVVGVSSVSRLLGRSRPQLGRPMSSGAHGEEGSARMWKTLTFFVALPGVAVSMLNVYLKSHHGEHERPEFIAYPHLRIRTKPFPWGDGNHTLFHNPHVNPLPTGYEDE

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex IV [GO:0005751]; mitochondrion [GO:0005739]; cytochrome-c oxidase activity [GO:0004129]; enzyme regulator activity [GO:0030234]; aerobic respiration [GO:0009060]; generation of precursor metabolites and energy [GO:0006091]; mitochondrial electron transport, cytochrome c to oxygen [GO:0006123]


uniprotID: Q9UBI1
geneSymbol: COMMD3
reactome: R-HSA-6798695;R-HSA-8951664;
name: COMM domain-containing protein 3 (Protein Bup) (Protein PIL)
length: 195
go: ENSG00000148444;
snps: rs11552445
sequence:
MELSESVQKGFQMLADPRSFDSNAFTLLLRAAFQSLLDAQADEAVLDHPDLKHIDPVVLKHCHAAAATYILEAGKHRADKSTLSTYLEDCKFDRERIELFCTEYQNNKNSLEILLGSIGRSLPHITDVSWRLEYQIKTNQLHRMYRPAYLVTLSVQNTDSPSYPEISFSCSMEQLQDLVGKLKDASKSLERATQL

opentargets:
extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; nucleus [GO:0005634]; neutrophil degranulation [GO:0043312]; sodium ion transport [GO:0006814]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21778237}. Nucleus {ECO:0000269|PubMed:21778237}.


uniprotID: F2Z3M2
geneSymbol: C17orf112
name: Uncharacterized protein C17orf112
length: 114
sequence:
MYTSLKSTFVAFADGRGTTESMPSPPLANSNHESPVNQLGNMQNMRLGPSFILTGIFLGNGRTEASPFFTDEFALSKIFPEYKRNLFGKFQTNMAFSLELDPPSLLLSVVLFMF


uniprotID: J3KSC0
geneSymbol: LINC01387
name: Putative uncharacterized protein encoded by LINC01387
length: 135
sequence:
MVPAPPFLGVLENPVPQWDLSILGSIRIRVSHTEVQGSGSSRSPEALRKESLEVEWTLVLLAIPPRIQPSQQDGGPPKCCDLLRAALLGRHCPLCVPAGEVFSQKRDNEQDRSEFIGQTLKLLVKRNVSLELSCR


uniprotID: Q8WXD9
geneSymbol: CASKIN1
pdb: 3SEI;3SEN;
name: Caskin-1 (CASK-interacting protein 1)
length: 1431
go: ENSG00000167971;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; identical protein binding [GO:0042802]; signal transduction [GO:0007165]


uniprotID: Q9GZQ3
geneSymbol: COMMD5
reactome: R-HSA-8951664;
name: COMM domain-containing protein 5 (Hypertension-related calcium-regulated gene protein) (HCaRG)
length: 224
go: ENSG00000170619;
opentargets: cytosol [GO:0005829]; nucleoplasm [GO:0005654]
snps: rs1209879 rs421427
sequence:


uniprotID: Q9Y281
geneSymbol: CFL2
name: Cofilin-2 (Cofilin, muscle isoform)
length: 166
go: ENSG00000165410;
snps: rs397515451 rs80358250
sequence:
MASGVTVNDEVIKVFNDMKVRKSSTQEEIKKRKKAVLFCLSDDKRQIIVEEAKQILVGDIGDTVEDPYTSFVKLLPLNDCRYALYDATYETKESKKEDLVFIFWAPESAPLKSKMIYASSKDAIKKKFTGIKHEWQVNGLDDIKDRSTLGEKLGGNVVVSLEGKPL

opentargets:
actin cytoskeleton [GO:0015629]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; I band [GO:0031674]; nuclear matrix [GO:0016363]; Z disc [GO:0030018]; actin filament binding [GO:0051015]; actin filament depolymerization [GO:0030042]; actin filament fragmentation [GO:0030043]; muscle cell cellular homeostasis [GO:0046716]; positive regulation of actin filament depolymerization [GO:0030836]; sarcomere organization [GO:0045214]; skeletal muscle tissue development [GO:0007519]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Isoforms are identical at the level of the protein sequence.; Name=CFL2b; IsoId=Q9Y281-1; Sequence=Displayed; Name=CFL2a; IsoId=Q9Y281-2; Sequence=Not described; Name=3; IsoId=Q9Y281-3; Sequence=VSP_046831; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Nucleus matrix {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Note=Colocalizes with CSPR3 in the Z line of sarcomeres. {ECO:0000269|PubMed:19752190}.


uniprotID: Q9UPN4
geneSymbol: CEP131
reactome: R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-8854518;
length: 1083
go: ENSG00000141577;
snps: rs8067409 rs752612451 rs2466773 rs2659015 rs2659016
name:
Centrosomal protein of 131 kDa (5-azacytidine-induced protein 1) (Pre-acrosome localization protein 1)

sequence:

opentargets:
acrosomal vesicle [GO:0001669]; centriolar satellite [GO:0034451]; centrosome [GO:0005813]; ciliary transition zone [GO:0035869]; cytosol [GO:0005829]; intercellular bridge [GO:0045171]; intracellular membrane-bounded organelle [GO:0043231]; microtubule cytoskeleton [GO:0015630]; microtubule organizing center [GO:0005815]; protein homodimerization activity [GO:0042803]; protein-containing complex binding [GO:0044877]; cell differentiation [GO:0030154]; ciliary basal body-plasma membrane docking [GO:0097711]; cilium assembly [GO:0060271]; G2/M transition of mitotic cell cycle [GO:0000086]; intraciliary transport involved in cilium assembly [GO:0035735]; multicellular organism development [GO:0007275]; positive regulation of cell proliferation [GO:0008284]; positive regulation of intracellular protein transport [GO:0090316]; protein localization to centrosome [GO:0071539]; regulation of centrosome duplication [GO:0010824]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UPN4-1; Sequence=Displayed; Name=2; IsoId=Q9UPN4-2; Sequence=VSP_015823; Name=3; IsoId=Q9UPN4-3; Sequence=VSP_015823, VSP_040204; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000269|PubMed:26297806, ECO:0000269|PubMed:26616734}. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000250|UniProtKB:Q62036}. Note=Colocalized with pericentriolar material protein PCM1 at centriolar satellites. During spermiogenesis, becomes enriched with nephrocystin NPHP1 at the transition zone, a structure at the base of the ciliary axoneme important for regulating traffic into the ciliary compartment. Traffics towards and away from the centrosome/basal body and the transition zone of the ciliary axoneme in a microtubule-dependent manner. Localized at the Golgi-derived acrosome and the centrosome-containing head-tail coupling apparatus (HTCA) (By similarity). Ubiquitinated form is sequestered and colocalized with BBS4, CEP290, PCM1 and PCNT at centriolar satellites in proliferating cells. Colocalized with the pericentriolar material protein PCM1 at centrosome. Traffics towards and away from centriolar satellites and centrosome in a microtubule- and dynein-dependent manner in interphase cells. Displaced from centriolar satellites but still remains associated with the centrosome in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock, in a process that requires p38 MAPK signaling (PubMed:26616734). {ECO:0000250, ECO:0000269|PubMed:26616734}.


uniprotID: Q96RY5
geneSymbol: CRAMP1
length: 1269
go: ENSG00000007545;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00624}.
name:
Protein cramped-like (Cramped chromatin regulator homolog 1) (Hematological and neurological expressed 1-like protein)

sequence:

opentargets:
nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]


uniprotID: P07320
geneSymbol: CRYGD
pdb: 1H4A;1HK0;1LD0;2G98;2KFB;2KLJ;4GR7;4JGF;
name: Gamma-crystallin D (Gamma-D-crystallin) (Gamma-crystallin 4)
length: 174
go: ENSG00000118231;
snps: rs121909595 rs28931605 rs28931605 rs121909597 rs121909596
sequence:
MGKITLYEDRGFQGRHYECSSDHPNLQPYLSRCNSARVDSGCWMLYEQPNYSGLQYFLRRGDYADHQQWMGLSDSVRSCRLIPHSGSHRIRLYEREDYRGQMIEFTEDCSCLQDRFRFNEIHSLNVLEGSWVLYELSNYRGRQYLLMPGDYRRYQDWGATNARVGSLRRVIDFS

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; structural constituent of eye lens [GO:0005212]; cellular response to reactive oxygen species [GO:0034614]; lens development in camera-type eye [GO:0002088]; lens fiber cell differentiation [GO:0070306]; visual perception [GO:0007601]


uniprotID: Q9H3G5
geneSymbol: CPVL
length: 476
go: ENSG00000106066;
snps: rs36074676 rs34219043 rs1052200 rs7313
name:
Probable serine carboxypeptidase CPVL (EC 3.4.16.-) (Carboxypeptidase, vitellogenic-like) (Vitellogenic carboxypeptidase-like protein) (VCP-like protein) (hVLP)

sequence:

opentargets:
extracellular exosome [GO:0070062]; serine-type carboxypeptidase activity [GO:0004185]; proteolysis involved in cellular protein catabolic process [GO:0051603]


uniprotID: P19784
geneSymbol: CSNK2A2
pdb: 3E3B;3OFM;3U87;5M4U;5M56;5OOI;5Y9M;5YF9;
name: Casein kinase II subunit alpha' (CK II alpha') (EC 2.7.11.1)
length: 350
go: ENSG00000070770;
drug: DB07546;
snps: rs55911801
reactome:
R-HSA-1483191;R-HSA-201688;R-HSA-2514853;R-HSA-445144;R-HSA-6804756;R-HSA-6814122;R-HSA-8934903;R-HSA-8939243;R-HSA-8948751;

sequence:

opentargets:
acrosomal vesicle [GO:0001669]; chromatin [GO:0000785]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; protein N-terminus binding [GO:0047485]; protein serine/threonine kinase activity [GO:0004674]; apoptotic process [GO:0006915]; cell cycle [GO:0007049]; cerebral cortex development [GO:0021987]; liver regeneration [GO:0097421]; negative regulation of apoptotic signaling pathway [GO:2001234]; negative regulation of ubiquitin-dependent protein catabolic process [GO:2000059]; peptidyl-serine phosphorylation [GO:0018105]; positive regulation of protein targeting to mitochondrion [GO:1903955]; regulation of autophagy of mitochondrion [GO:1903146]; regulation of chromosome separation [GO:1905818]; regulation of signal transduction by p53 class mediator [GO:1901796]; spermatogenesis [GO:0007283]; Wnt signaling pathway [GO:0016055]


uniprotID: O75177
geneSymbol: SS18L1
name: Calcium-responsive transactivator (SS18-like protein 1) (SYT homolog 1)
length: 396
go: ENSG00000184402;
snps: rs17853304 rs36106901
sequence:

opentargets:
condensed chromosome kinetochore [GO:0000777]; condensed nuclear chromosome, centromeric region [GO:0000780]; cytosol [GO:0005829]; kinetochore [GO:0000776]; nBAF complex [GO:0071565]; nuclear body [GO:0016604]; nucleus [GO:0005634]; transcription coactivator activity [GO:0003713]; chromatin organization [GO:0006325]; dendrite development [GO:0016358]; positive regulation of dendrite morphogenesis [GO:0050775]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=O75177-1; Sequence=Displayed; Name=2; IsoId=O75177-2; Sequence=VSP_038700; Name=3; IsoId=O75177-3; Sequence=VSP_038698; Name=4; IsoId=O75177-4; Sequence=VSP_038697; Name=5; IsoId=O75177-5; Sequence=VSP_038699; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Chromosome, centromere, kinetochore {ECO:0000250}. Note=Localizes to nuclear bodies. Colocalizes with SGO1 at kinetochore (By similarity). {ECO:0000250}.


uniprotID: A8K830
geneSymbol: COLCA2
name: Colorectal cancer-associated protein 2 (Cancer susceptibility candidate protein 13)
length: 154
go: ENSG00000214290;
opentargets: cytoplasm [GO:0005737]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24154973}.
sequence:
MHPEPLLNSTQSAPHHFPDSFQATPFCFNQSLIPGSPSNSSILSGSLDYSYSPVQLPSYAPENYNSPASLDTRTCGYPPEDHSYQHLSSHAQYSCFSSATTSICYCASCEAEDLDALQAAEYFYPSTDCVDFAPSAAATSDFYKRETNCDICYS

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=A8K830-1; Sequence=Displayed; Name=2; IsoId=A8K830-2; Sequence=VSP_055553; Name=3; IsoId=A8K830-3; Sequence=VSP_055554; Name=4; IsoId=A8K830-4; Sequence=VSP_055555; Name=5; IsoId=A8K830-5; Sequence=VSP_055556; 


uniprotID: Q86X83
geneSymbol: COMMD2
reactome: R-HSA-8951664;
name: COMM domain-containing protein 2
length: 199
go: ENSG00000114744;
opentargets: cytoplasm [GO:0005737]
snps: rs9843784 rs1546732
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21778237}.
sequence:
MLLELSEEHKEHLAFLPQVDSAVVAEFGRIAVEFLRRGANPKIYEGAARKLNVSSDTVQHGVEGLTYLLTESSKLMISELDFQDSVFVLGFSEELNKLLLQLYLDNRKEIRTILSELAPSLPSYHNLEWRLDVQLASRSLRQQIKPAVTIKLHLNQNGDHNTKVLQTDPATLLHLVQQLEQALEEMKTNHCRRVVRNIK

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86X83-1; Sequence=Displayed; Name=2; IsoId=Q86X83-2; Sequence=VSP_055533; Note=No experimental confirmation available.; 


uniprotID: Q86Y22
geneSymbol: COL23A1
reactome: R-HSA-1442490;R-HSA-1650814;R-HSA-216083;R-HSA-8948216;
name: Collagen alpha-1(XXIII) chain
length: 540
go: ENSG00000050767;
snps: rs890802
sequence:

opentargets:
collagen trimer [GO:0005581]; endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; extracellular matrix structural constituent [GO:0005201]; angiogenesis [GO:0001525]; endothelial cell morphogenesis [GO:0001886]; extracellular matrix organization [GO:0030198]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86Y22-1; Sequence=Displayed; Name=2; IsoId=Q86Y22-2; Sequence=VSP_019627, VSP_019628, VSP_019629, VSP_019630, VSP_019631; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}; Extracellular side {ECO:0000250}.


uniprotID: O15528
geneSymbol: CYP27B1
reactome: R-HSA-196791;R-HSA-211916;R-HSA-5579014;
length: 508
go: ENSG00000111012;
drug: DB01436;DB00146;DB01285;DB00153;
location: SUBCELLULAR LOCATION: Mitochondrion membrane.
name:
25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial (EC 1.14.15.18) (25-OHD-1 alpha-hydroxylase) (25-hydroxyvitamin D(3) 1-alpha-hydroxylase) (VD3 1A hydroxylase) (Calcidiol 1-monooxygenase) (Cytochrome P450 subfamily XXVIIB polypeptide 1) (Cytochrome P450C1 alpha) (Cytochrome P450VD1-alpha) (Cytochrome p450 27B1)

sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; calcidiol 1-monooxygenase activity [GO:0004498]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; bone mineralization [GO:0030282]; calcitriol biosynthetic process from calciol [GO:0036378]; calcium ion homeostasis [GO:0055074]; calcium ion transport [GO:0006816]; decidualization [GO:0046697]; G1 to G0 transition [GO:0070314]; negative regulation of calcidiol 1-monooxygenase activity [GO:0010956]; negative regulation of cell growth [GO:0030308]; negative regulation of cell proliferation [GO:0008285]; positive regulation of keratinocyte differentiation [GO:0045618]; positive regulation of vitamin D 24-hydroxylase activity [GO:0010980]; positive regulation of vitamin D receptor signaling pathway [GO:0070564]; regulation of bone mineralization [GO:0030500]; response to estrogen [GO:0043627]; response to interferon-gamma [GO:0034341]; response to lipopolysaccharide [GO:0032496]; response to vitamin D [GO:0033280]; vitamin D catabolic process [GO:0042369]; vitamin D metabolic process [GO:0042359]; vitamin metabolic process [GO:0006766]

snps:
rs868704228 rs28934604 rs28934605 rs8176344 rs118204012 rs118204007 rs28934606 rs118204011 rs28934607 rs118204010 rs118204010 rs118204009 rs118204008 rs568165874 rs767480544 


uniprotID: Q9H799
geneSymbol: CPLANE1
name: Ciliogenesis and planar polarity effector 1 (Protein JBTS17)
length: 3197
go: ENSG00000197603;
sequence:

opentargets:
ciliary transition zone [GO:0035869]; integral component of membrane [GO:0016021]; cerebellum development [GO:0021549]; cilium assembly [GO:0060271]; coronary vasculature development [GO:0060976]; embryonic digit morphogenesis [GO:0042733]; establishment of planar polarity [GO:0001736]; heart development [GO:0007507]; kidney development [GO:0001822]; protein localization to ciliary transition zone [GO:1904491]; roof of mouth development [GO:0060021]; ventricular septum development [GO:0003281]

snps:
rs794727154 rs375009168 rs1434631255 rs149170427 rs141153181 rs606231261 rs367543061 rs869312898 rs6859950 rs79377186 rs75589774 rs10076911 rs10076911 rs6884652 rs16903518 rs377107065 rs7702892 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H799-1; Sequence=Displayed; Name=2; IsoId=Q9H799-5; Sequence=VSP_044052, VSP_044053, VSP_044054, VSP_044055; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Cell projection, cilium {ECO:0000250|UniProtKB:Q8CE72}. Note=Localizes to the ciliary transition zone. {ECO:0000250|UniProtKB:Q8CE72}.


uniprotID: P08686
geneSymbol: CYP21A2
reactome: R-HSA-193993;R-HSA-194002;R-HSA-211976;R-HSA-5579021;
pdb: 2GEG;4Y8W;
length: 494
drug: DB01026;
name:
Steroid 21-hydroxylase (EC 1.14.14.16) (21-OHase) (Cytochrome P-450c21) (Cytochrome P450 21) (Cytochrome P450 XXI) (Cytochrome P450-C21) (Cytochrome P450-C21B)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; organelle membrane [GO:0031090]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; steroid 21-monooxygenase activity [GO:0004509]; steroid binding [GO:0005496]; steroid hydroxylase activity [GO:0008395]; glucocorticoid biosynthetic process [GO:0006704]; mineralocorticoid biosynthetic process [GO:0006705]; steroid biosynthetic process [GO:0006694]; steroid metabolic process [GO:0008202]; sterol metabolic process [GO:0016125]

snps:
rs63749090 rs757608533 rs9378251 rs9378252 rs6474 rs550051210 rs957886272 rs547552654 rs72552750 rs6475 rs72552751 rs772317717 rs397515531 rs143240527 rs372964292 rs111647200 rs12530380 rs6476 rs750337015 rs61732108 rs142028935 rs6472 rs6471 rs201552310 rs201552310 rs765001985 rs151344505 rs72552754 rs72552755 rs772900496 rs760216630 rs574370139 rs7769409 rs781074931 rs151344506 rs72552756 rs72552757 rs72552758 rs151344504 rs767333157 rs6445 rs184649564 rs776989258 rs200005406 rs200005406 rs759736443 rs6473 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P08686-1; Sequence=Displayed; Name=2; IsoId=P08686-2; Sequence=VSP_046264, VSP_046265; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Peripheral membrane protein {ECO:0000269|PubMed:10198222}. Microsome membrane {ECO:0000269|PubMed:10198222}; Peripheral membrane protein {ECO:0000269|PubMed:10198222}.


uniprotID: P50416
geneSymbol: CPT1A
reactome: R-HSA-1368082;R-HSA-1989781;R-HSA-200425;R-HSA-5362517;
pdb: 2LE3;
length: 773
go: ENSG00000110090;
drug: DB01016;DB00583;DB01074;
name:
Carnitine O-palmitoyltransferase 1, liver isoform (CPT1-L) (EC 2.3.1.21) (Carnitine O-palmitoyltransferase I, liver isoform) (CPT I) (CPTI-L) (Carnitine palmitoyltransferase 1A)

sequence:

opentargets:
integral component of mitochondrial outer membrane [GO:0031307]; membrane [GO:0016020]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; carnitine O-palmitoyltransferase activity [GO:0004095]; identical protein binding [GO:0042802]; palmitoleoyltransferase activity [GO:1990698]; carnitine metabolic process [GO:0009437]; carnitine shuttle [GO:0006853]; cellular response to fatty acid [GO:0071398]; circadian rhythm [GO:0007623]; eating behavior [GO:0042755]; epithelial cell differentiation [GO:0030855]; fatty acid beta-oxidation [GO:0006635]; glucose metabolic process [GO:0006006]; long-chain fatty acid metabolic process [GO:0001676]; positive regulation of fatty acid beta-oxidation [GO:0032000]; protein homooligomerization [GO:0051260]; regulation of insulin secretion [GO:0050796]; regulation of lipid metabolic process [GO:0019216]; response to drug [GO:0042493]; response to organic cyclic compound [GO:0014070]; triglyceride metabolic process [GO:0006641]

snps:
rs80356775 rs2229738 rs80356789 rs80356776 rs80356796 rs80356783 rs80356777 rs80356787 rs80356790 rs80356778 rs80356784 rs80356779 rs80356793 rs80356791 rs28936374 rs80356780 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P50416-1; Sequence=Displayed; Name=2; IsoId=P50416-2; Sequence=VSP_012167; 

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:11350182, ECO:0000269|PubMed:14517221}; Multi-pass membrane protein {ECO:0000269|PubMed:11350182, ECO:0000269|PubMed:14517221}.


uniprotID: O75462
geneSymbol: CRLF1
reactome: R-HSA-6788467;R-HSA-9020956;
name: Cytokine receptor-like factor 1 (Cytokine-like factor 1) (CLF-1) (ZcytoR5)
length: 422
go: ENSG00000006016;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:9686600}.
sequence:

opentargets:
CRLF-CLCF1 complex [GO:0097058]; cytosol [GO:0005829]; external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; receptor complex [GO:0043235]; cytokine binding [GO:0019955]; cytokine receptor activity [GO:0004896]; protein heterodimerization activity [GO:0046982]; cytokine-mediated signaling pathway [GO:0019221]; interleukin-27-mediated signaling pathway [GO:0070106]; negative regulation of motor neuron apoptotic process [GO:2000672]; negative regulation of neuron apoptotic process [GO:0043524]; positive regulation of cell proliferation [GO:0008284]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; regulation of signaling receptor activity [GO:0010469]; ureteric bud development [GO:0001657]

snps:
rs137853143 rs104894670 rs774359694 rs137853930 rs11672248 rs556029569 rs761982168 rs137853927 rs771459625 rs104894668 


uniprotID: Q14117
geneSymbol: DPYS
reactome: R-HSA-73621;
pdb: 2VR2;
name: Dihydropyrimidinase (DHP) (DHPase) (EC 3.5.2.2) (Dihydropyrimidine amidohydrolase) (Hydantoinase)
length: 519
go: ENSG00000147647;
snps: rs121964923 rs121964924 rs267606773
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; amino acid binding [GO:0016597]; dihydropyrimidinase activity [GO:0004157]; phosphoprotein binding [GO:0051219]; thymine binding [GO:0002059]; uracil binding [GO:0002058]; zinc ion binding [GO:0008270]; beta-alanine metabolic process [GO:0019482]; protein homotetramerization [GO:0051289]; pyrimidine nucleobase catabolic process [GO:0006208]; pyrimidine nucleoside catabolic process [GO:0046135]; thymine catabolic process [GO:0006210]; uracil catabolic process [GO:0006212]


uniprotID: P49747
geneSymbol: COMP
reactome: R-HSA-216083;R-HSA-3000178;
pdb: 3FBY;
name: Cartilage oligomeric matrix protein (COMP) (Thrombospondin-5) (TSP5)
length: 757
go: ENSG00000105664;
drug: DB01373;
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; protein-containing complex [GO:0032991]; BMP binding [GO:0036122]; calcium ion binding [GO:0005509]; collagen binding [GO:0005518]; extracellular matrix structural constituent [GO:0005201]; fibronectin binding [GO:0001968]; heparan sulfate proteoglycan binding [GO:0043395]; heparin binding [GO:0008201]; integrin binding [GO:0005178]; protease binding [GO:0002020]; vitamin D binding [GO:0005499]; animal organ morphogenesis [GO:0009887]; animal organ senescence [GO:0010260]; apoptotic process [GO:0006915]; artery morphogenesis [GO:0048844]; BMP signaling pathway [GO:0030509]; bone mineralization [GO:0030282]; chondrocyte development [GO:0002063]; chondrocyte proliferation [GO:0035988]; collagen fibril organization [GO:0030199]; extracellular matrix organization [GO:0030198]; growth plate cartilage development [GO:0003417]; limb development [GO:0060173]; multicellular organism aging [GO:0010259]; multicellular organism growth [GO:0035264]; muscle fiber development [GO:0048747]; musculoskeletal movement [GO:0050881]; negative regulation of apoptotic process [GO:0043066]; negative regulation of hemostasis [GO:1900047]; neuromuscular process [GO:0050905]; platelet aggregation [GO:0070527]; positive regulation of chondrocyte proliferation [GO:1902732]; protein processing [GO:0016485]; protein secretion [GO:0009306]; regulation of bone mineralization [GO:0030500]; response to unfolded protein [GO:0006986]; skeletal system development [GO:0001501]; skin development [GO:0043588]; tendon development [GO:0035989]; vascular smooth muscle cell development [GO:0097084]; vascular smooth muscle contraction [GO:0014829]

snps:
rs763887855 rs557483957 rs137852653 rs137852652 rs137852656 rs1057521130 rs3179763 rs28936668 rs137852651 rs137852650 rs28936669 rs137852654 rs312262903 rs312262900 rs312262900 rs149551600 rs28936368 rs137852655 rs312262904 rs61752496 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P49747-1; Sequence=Displayed; Name=2; IsoId=P49747-2; Sequence=VSP_055758; Note=No experimental confirmation available.; 


uniprotID: Q96I36
geneSymbol: COX14
reactome: R-HSA-5628897;R-HSA-611105;
name: Cytochrome c oxidase assembly protein COX14
sequence: MPTGKQLADIGYKTFSTSMMLLTVYGGYLCSVRVYHYFQWRRAQRQAAEEQKTSGIM
length: 57
go: ENSG00000178449;
snps: rs587776904
opentargets:
integral component of membrane [GO:0016021]; mitochondrial membrane [GO:0031966]; mitochondrion [GO:0005739]; mitochondrial respiratory chain complex IV assembly [GO:0033617]

location:
SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000269|PubMed:22243966, ECO:0000269|PubMed:22356826}; Single-pass membrane protein {ECO:0000269|PubMed:22243966, ECO:0000269|PubMed:22356826}.


uniprotID: Q9UQ03
geneSymbol: CORO2B
name: Coronin-2B (Coronin-like protein C) (Clipin-C) (Protein FC96)
length: 480
go: ENSG00000103647;
snps: rs17852400
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305}.
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; membrane [GO:0016020]; actin binding [GO:0003779]; actin filament binding [GO:0051015]; actin cytoskeleton organization [GO:0030036]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UQ03-1; Sequence=Displayed; Name=2; IsoId=Q9UQ03-2; Sequence=VSP_037706; 


uniprotID: Q9BU20
geneSymbol: CPLANE2
name: Ciliogenesis and planar polarity effector 2 (REM2- and Rab-like small GTPase 1)
length: 258
snps: rs17849687
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q6GNL4}.
sequence:

opentargets:
ciliary basal body [GO:0036064]; cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; cellular protein localization [GO:0034613]; cilium assembly [GO:0060271]; exocytosis [GO:0006887]; protein transport [GO:0015031]; regulation of exocytosis [GO:0017157]; regulation of vesicle fusion [GO:0031338]


uniprotID: Q494V2
geneSymbol: CFAP100
name: Cilia- and flagella-associated protein 100 (Coiled-coil domain-containing protein 37)
length: 611
go: ENSG00000163885;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:A8I4E9}.
sequence:

opentargets:
axonemal outer doublet [GO:0097545]; motile cilium [GO:0031514]; dynein complex binding [GO:0070840]; cilium movement [GO:0003341]; inner dynein arm assembly [GO:0036159]; regulation of microtubule motor activity [GO:2000574]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q494V2-1; Sequence=Displayed; Name=2; IsoId=Q494V2-2; Sequence=VSP_018328; Note=No experimental confirmation available.; 


uniprotID: Q9BV73
geneSymbol: CEP250
reactome: R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-8854518;
length: 2442
go: ENSG00000126001;
snps: rs2296403 rs17092706 rs3748433
name:
Centrosome-associated protein CEP250 (250 kDa centrosomal protein) (Cep250) (Centrosomal Nek2-associated protein 1) (C-Nap1) (Centrosomal protein 2)

sequence:

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; cilium [GO:0005929]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; microtubule organizing center [GO:0005815]; perinuclear region of cytoplasm [GO:0048471]; protein-containing complex [GO:0032991]; protein C-terminus binding [GO:0008022]; protein domain specific binding [GO:0019904]; protein kinase binding [GO:0019901]; centriole-centriole cohesion [GO:0010457]; ciliary basal body-plasma membrane docking [GO:0097711]; G2/M transition of mitotic cell cycle [GO:0000086]; mitotic cell cycle [GO:0000278]; non-motile cilium assembly [GO:1905515]; positive regulation of protein localization to centrosome [GO:1904781]; protein localization [GO:0008104]; protein localization to organelle [GO:0033365]; regulation of centriole-centriole cohesion [GO:0030997]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BV73-1; Sequence=Displayed; Name=2; IsoId=Q9BV73-2; Sequence=VSP_007372; 

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000269|PubMed:9647649}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:26337392, ECO:0000269|PubMed:9647649}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:9647649}. Note=Component of the core centrosome. In interphase cells, it specifically associates with the proximal ends of both mother and daughter centrioles. Associates with the centrosome in interphase cells. In mitotic cells, it dissociates from the mitotic spindle poles. At the end of cell division, it reaccumulates at centrosomes. In photoreceptors, found at the proximal ends of basal bodies.


uniprotID: Q8IZJ3
geneSymbol: CPAMD8
name: C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8
length: 1885
snps: rs10426545 rs4808551 rs3745340 rs3745335 rs1824152 rs9305083 rs2250918 rs706761 rs1054533
sequence:

opentargets:
extracellular space [GO:0005615]; plasma membrane [GO:0005886]; serine-type endopeptidase inhibitor activity [GO:0004867]; eye development [GO:0001654]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IZJ3-1; Sequence=Displayed; Name=2; IsoId=Q8IZJ3-2; Sequence=VSP_031137, VSP_031138; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000305|PubMed:15177561}. Cell membrane {ECO:0000269|PubMed:15177561}; Peripheral membrane protein {ECO:0000269|PubMed:15177561}; Extracellular side {ECO:0000269|PubMed:15177561}.


uniprotID: Q9NZV1
geneSymbol: CRIM1
length: 1036
go: ENSG00000150938;
snps: rs12997487 rs59929305
name:
Cysteine-rich motor neuron 1 protein (CRIM-1) (Cysteine-rich repeat-containing protein S52) [Cleaved into: Processed cysteine-rich motor neuron 1 protein]

sequence:

opentargets:
extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; insulin-like growth factor binding [GO:0005520]; insulin-like growth factor-activated receptor activity [GO:0005010]; PDZ domain binding [GO:0030165]; serine-type endopeptidase inhibitor activity [GO:0004867]; nervous system development [GO:0007399]; regulation of cell growth [GO:0001558]

location:
SUBCELLULAR LOCATION: Processed cysteine-rich motor neuron 1 protein: Secreted.; SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12805376}; Single-pass type I membrane protein {ECO:0000269|PubMed:12805376}.


uniprotID: Q16630
geneSymbol: CPSF6
reactome: R-HSA-1839117;R-HSA-5655302;
pdb: 3P5T;3P6Y;3Q2S;3Q2T;4B4N;4U0A;4U0B;4WYM;6AY9;
length: 551
go: ENSG00000111605;
name:
Cleavage and polyadenylation specificity factor subunit 6 (Cleavage and polyadenylation specificity factor 68 kDa subunit) (CPSF 68 kDa subunit) (Cleavage factor Im complex 68 kDa subunit) (CFIm68) (Pre-mRNA cleavage factor Im 68 kDa subunit) (Protein HPBRII-4/7)

sequence:

opentargets:
cytoplasm [GO:0005737]; interchromatin granule [GO:0035061]; membrane [GO:0016020]; mRNA cleavage and polyadenylation specificity factor complex [GO:0005847]; mRNA cleavage factor complex [GO:0005849]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; paraspeckles [GO:0042382]; perichromatin fibrils [GO:0005726]; ribonucleoprotein complex [GO:1990904]; exon-exon junction complex binding [GO:1990448]; mRNA binding [GO:0003729]; ribosomal large subunit binding [GO:0043023]; RNA binding [GO:0003723]; messenger ribonucleoprotein complex assembly [GO:1990120]; mRNA alternative polyadenylation [GO:0110104]; mRNA processing [GO:0006397]; positive regulation of RNA export from nucleus [GO:0046833]; pre-mRNA cleavage required for polyadenylation [GO:0098789]; protein heterotetramerization [GO:0051290]; protein tetramerization [GO:0051262]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q16630-1; Sequence=Displayed; Name=2; IsoId=Q16630-2; Sequence=VSP_017192; Name=3; IsoId=Q16630-3; Sequence=VSP_017191; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15169763, ECO:0000269|PubMed:19864460, ECO:0000269|PubMed:20695905, ECO:0000269|PubMed:9659921}. Nucleus, nucleoplasm {ECO:0000269|PubMed:17267687}. Nucleus speckle {ECO:0000269|PubMed:17267687}. Cytoplasm {ECO:0000269|PubMed:19864460}. Note=Shuttles between the nucleus and the cytoplasm in a transcription- and XPO1/CRM1-independent manner, most probably in complex with the cleavage factor Im complex (CFIm) (PubMed:19864460). Colocalizes with PSPC1 in punctate subnuclear structures often located adjacent to nuclear speckles, called paraspeckles, and corresponding to interchromatin granules-associated zones (IGAZs) (PubMed:17267687). Distribution in speckles and paraspeckles varies during the cell cycle (PubMed:17267687). Associates at sites of active transcription on nascent perichromatin fibrils (PFs) and perichromatin granules (PubMed:17267687). {ECO:0000269|PubMed:15169763, ECO:0000269|PubMed:17267687, ECO:0000269|PubMed:19864460}.


uniprotID: Q9UP83
geneSymbol: COG5
reactome: R-HSA-6807878;R-HSA-6811438;R-HSA-6811440;
length: 839
go: ENSG00000164597;
snps: rs2269970 rs34087251 rs35393416
name:
Conserved oligomeric Golgi complex subunit 5 (COG complex subunit 5) (13S Golgi transport complex 90 kDa subunit) (GTC-90) (Component of oligomeric Golgi complex 5) (Golgi transport complex 1)

sequence:

opentargets:
cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; Golgi transport complex [GO:0017119]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; trans-Golgi network membrane [GO:0032588]; ER to Golgi vesicle-mediated transport [GO:0006888]; intra-Golgi vesicle-mediated transport [GO:0006891]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UP83-1; Sequence=Displayed; Name=2; IsoId=Q9UP83-2; Sequence=VSP_031610; Name=3; IsoId=Q9UP83-3; Sequence=VSP_031610, VSP_031611; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:9792665}. Golgi apparatus membrane {ECO:0000269|PubMed:9792665}; Peripheral membrane protein {ECO:0000269|PubMed:9792665}.


uniprotID: Q12882
geneSymbol: DPYD
reactome: R-HSA-73621;
length: 1025
go: ENSG00000188641;
drug: DB03554;DB03048;DB01101;DB03516;DB03147;DB00544;DB02338;DB03247;DB03419;
snps: rs1801265 rs2297595 rs1801266 rs1801158 rs1801159 rs1801160 rs1801267 rs1801268
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Dihydropyrimidine dehydrogenase [NADP(+)] (DHPDHase) (DPD) (EC 1.3.1.2) (Dihydrothymine dehydrogenase) (Dihydrouracil dehydrogenase)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; 4 iron, 4 sulfur cluster binding [GO:0051539]; dihydropyrimidine dehydrogenase (NADP+) activity [GO:0017113]; dihydrouracil dehydrogenase (NAD+) activity [GO:0004159]; flavin adenine dinucleotide binding [GO:0050660]; iron-sulfur cluster binding [GO:0051536]; metal ion binding [GO:0046872]; NADH dehydrogenase activity [GO:0003954]; NADP binding [GO:0050661]; protein homodimerization activity [GO:0042803]; uracil binding [GO:0002058]; beta-alanine biosynthetic process [GO:0019483]; purine nucleobase catabolic process [GO:0006145]; pyrimidine nucleobase catabolic process [GO:0006208]; pyrimidine nucleoside catabolic process [GO:0046135]; thymidine catabolic process [GO:0006214]; thymine catabolic process [GO:0006210]; uracil catabolic process [GO:0006212]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q12882-1; Sequence=Displayed; Name=2; IsoId=Q12882-2; Sequence=VSP_044929, VSP_044930; Note=No experimental confirmation available.; 


uniprotID: Q14194
geneSymbol: CRMP1
reactome: R-HSA-399956;
pdb: 4B3Z;
length: 572
go: ENSG00000072832;
snps: rs34611001
name:
Dihydropyrimidinase-related protein 1 (DRP-1) (Collapsin response mediator protein 1) (CRMP-1) (Unc-33-like phosphoprotein 3) (ULIP-3)

sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; midbody [GO:0030496]; spindle [GO:0005819]; filamin binding [GO:0031005]; hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds [GO:0016810]; axon guidance [GO:0007411]; microtubule cytoskeleton organization [GO:0000226]; negative regulation of actin filament binding [GO:1904530]; negative regulation of neuron projection development [GO:0010977]; nervous system development [GO:0007399]; nucleobase-containing compound metabolic process [GO:0006139]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14194-1; Sequence=Displayed; Name=LCRMP-1; IsoId=Q14194-2; Sequence=VSP_042545; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11562390}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:11562390}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:11562390}. Note=Associated with centrosomes and the mitotic spindle during metaphase.


uniprotID: Q8N118
geneSymbol: CYP4X1
name: Cytochrome P450 4X1 (EC 1.14.14.1) (CYPIVX1)
length: 509
go: ENSG00000186377;
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; organelle membrane [GO:0031090]; aromatase activity [GO:0070330]; heme binding [GO:0020037]; iron ion binding [GO:0005506]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N118-1; Sequence=Displayed; Name=2; IsoId=Q8N118-2; Sequence=VSP_045890; Note=No experimental confirmation available.; Name=3; IsoId=Q8N118-3; Sequence=VSP_045889; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000305}. Microsome membrane {ECO:0000250}.


uniprotID: P78560
geneSymbol: CRADD
reactome: R-HSA-6803207;
pdb: 2O71;2OF5;3CRD;
length: 199
go: ENSG00000169372;
snps: rs387906861
name:
Death domain-containing protein CRADD (Caspase and RIP adapter with death domain) (RIP-associated protein with a death domain)

sequence:
MEARDKQVLRSLRLELGAEVLVEGLVLQYLYQEGILTENHIQEINAQTTGLRKTMLLLDILPSRGPKAFDTFLDSLQEFPWVREKLKKAREEAMTDLPAGDRLTGIPSHILNSSPSDRQINQLAQRLGPEWEPMVLSLGLSQTDIYRCKANHPHNVQSQVVEAFIRWRQRFGKQATFQSLHNGLRAVEVDPSLLLHMLE

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; death domain binding [GO:0070513]; protease binding [GO:0002020]; protein binding, bridging [GO:0030674]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; cellular response to mechanical stimulus [GO:0071260]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; extrinsic apoptotic signaling pathway via death domain receptors [GO:0008625]; positive regulation of apoptotic process [GO:0043065]; positive regulation of apoptotic signaling pathway [GO:2001235]; regulation of apoptotic process [GO:0042981]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P78560-1; Sequence=Displayed; Name=2; IsoId=P78560-2; Sequence=VSP_056892; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:O88843}. Nucleus {ECO:0000250|UniProtKB:O88843}.


uniprotID: O60519
geneSymbol: CREBL2
name: cAMP-responsive element-binding protein-like 2
length: 120
go: ENSG00000111269;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:
MDDSKVVGGKVKKPGKRGRKPAKIDLKAKLERSRQSARECRARKKLRYQYLEELVSSRERAICALREELEMYKQWCMAMDQGKIPSEIKALLTGEEQNKSQQNSSRHTKAGKTDANSNSW

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; cell cycle [GO:0007049]; cell differentiation [GO:0030154]; positive regulation of fat cell differentiation [GO:0045600]; positive regulation of glucose import [GO:0046326]; positive regulation of lipid biosynthetic process [GO:0046889]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of transcription, DNA-templated [GO:0045893]; protein stabilization [GO:0050821]; signal transduction [GO:0007165]; transcription, DNA-templated [GO:0006351]


uniprotID: Q9HCG8
geneSymbol: CWC22
reactome: R-HSA-72163;
pdb: 4C9B;5MQF;5XJC;5YZG;5Z56;5Z57;5Z58;
name: Pre-mRNA-splicing factor CWC22 homolog (Nucampholin homolog) (fSAPb)
length: 908
go: ENSG00000163510;
snps: rs17778270 rs11903115 rs1046356
sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; cytosol [GO:0005829]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; spliceosomal complex [GO:0005681]; U2-type catalytic step 1 spliceosome [GO:0071006]; U2-type catalytic step 2 spliceosome [GO:0071007]; RNA binding [GO:0003723]; mRNA splicing, via spliceosome [GO:0000398]; regulation of mRNA splicing, via spliceosome [GO:0048024]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11991638}. Nucleus speckle {ECO:0000269|PubMed:22961380}. Note=Concentrates around speckles, which are sites of pre-mRNA synthesis and processing, where it colocalizes with EJC core proteins. {ECO:0000269|PubMed:22961380}.


uniprotID: P00167
geneSymbol: CYB5A
reactome: R-HSA-196836;
pdb: 2I96;
name: Cytochrome b5 (Microsomal cytochrome b5 type A) (MCB5)
length: 134
go: ENSG00000166347;
drug: DB04009;
sequence:
MAEQSDEAVKYYTLEEIQKHNHSKSTWLILHHKVYDLTKFLEEHPGGEEVLREQAGGDATENFEDVGHSTDAREMSKTFIIGELHPDDRPKLNKPPETLITTIDSSSSWWTNWVIPAISAVAVALMYRLYMAED

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; mitochondrial outer membrane [GO:0005741]; aldo-keto reductase (NADP) activity [GO:0004033]; cytochrome-c oxidase activity [GO:0004129]; enzyme binding [GO:0019899]; heme binding [GO:0020037]; metal ion binding [GO:0046872]; L-ascorbic acid metabolic process [GO:0019852]; response to cadmium ion [GO:0046686]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Liver, Membrane-bound; IsoId=P00167-1; Sequence=Displayed; Name=2; Synonyms=Erythrocyte, Cytoplasmic; IsoId=P00167-2; Sequence=VSP_001240, VSP_001241; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=P00167-3; Sequence=VSP_045367; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Endoplasmic reticulum membrane; Single-pass membrane protein; Cytoplasmic side. Microsome membrane; Single-pass membrane protein; Cytoplasmic side.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm.


uniprotID: P57773
geneSymbol: GJA9
reactome: R-HSA-190861;
length: 515
snps: rs880303
name:
Gap junction alpha-9 protein (Connexin-58) (Cx58) (Connexin-59) (Cx59) (Gap junction alpha-10 protein)

sequence:

opentargets:
connexin complex [GO:0005922]; integral component of membrane [GO:0016021]; cell communication [GO:0007154]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P57773-1; Sequence=Displayed; Name=2; IsoId=P57773-2; Sequence=VSP_035808; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cell junction, gap junction {ECO:0000250}.


uniprotID: Q96J86
geneSymbol: CYYR1
name: Cysteine and tyrosine-rich protein 1 (Proline-rich domain-containing protein)
length: 154
go: ENSG00000166265;
opentargets: integral component of membrane [GO:0016021]
snps: rs35253087
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:
MDAPRLPVRPGVLLPKLVLLFVYADDCLAQCGKDCKSYCCDGTTPYCCSYYAYIGNILSGTAIAGIVFGIVFIMGVIAGIAICICMCMKNHRATRVGILRTTHINTVSSYPGPPPYGHDHEMEYCADLPPPYSPTPQGPAQRSPPPPYPGNARK

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q96J86-1; Sequence=Displayed; Name=2; IsoId=Q96J86-2; Sequence=VSP_034245; Name=3; IsoId=Q96J86-3; Sequence=VSP_057148, VSP_057150; Name=4; IsoId=Q96J86-4; Sequence=VSP_057143, VSP_057149; Name=5; IsoId=Q96J86-5; Sequence=VSP_057144, VSP_057147; Name=6; IsoId=Q96J86-6; Sequence=VSP_057145, VSP_057146; 


uniprotID: Q32NC0
geneSymbol: C18orf21
name: UPF0711 protein C18orf21 (HBV X-transactivated gene 13 protein) (HBV XAg-transactivated protein 13)
length: 220
go: ENSG00000141428;
snps: rs2276314
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q32NC0-1; Sequence=Displayed; Name=2; IsoId=Q32NC0-2; Sequence=VSP_055184; 


uniprotID: O43809
geneSymbol: NUDT21
reactome: R-HSA-109688;R-HSA-72163;R-HSA-72187;R-HSA-77595;
pdb: 2CL3;2J8Q;3BAP;3BHO;3MDG;3MDI;3N9U;3P5T;3P6Y;3Q2S;3Q2T;
length: 227
go: ENSG00000167005;
name:
Cleavage and polyadenylation specificity factor subunit 5 (Cleavage and polyadenylation specificity factor 25 kDa subunit) (CPSF 25 kDa subunit) (Cleavage factor Im complex 25 kDa subunit) (CFIm25) (Nucleoside diphosphate-linked moiety X motif 21) (Nudix motif 21) (Nudix hydrolase 21) (Pre-mRNA cleavage factor Im 68 kDa subunit)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; microtubule organizing center [GO:0005815]; mRNA cleavage and polyadenylation specificity factor complex [GO:0005847]; mRNA cleavage factor complex [GO:0005849]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; paraspeckles [GO:0042382]; AU-rich element binding [GO:0017091]; chromatin binding [GO:0003682]; histone deacetylase binding [GO:0042826]; hydrolase activity [GO:0016787]; identical protein binding [GO:0042802]; mRNA binding [GO:0003729]; protein homodimerization activity [GO:0042803]; RNA binding [GO:0003723]; cell differentiation [GO:0030154]; messenger ribonucleoprotein complex assembly [GO:1990120]; mRNA 3'-end processing [GO:0031124]; mRNA alternative polyadenylation [GO:0110104]; mRNA polyadenylation [GO:0006378]; mRNA processing [GO:0006397]; mRNA splicing, via spliceosome [GO:0000398]; positive regulation of mRNA cleavage [GO:0031439]; positive regulation of mRNA polyadenylation [GO:1900365]; positive regulation of pro-B cell differentiation [GO:2000975]; positive regulation of stem cell differentiation [GO:2000738]; posttranscriptional regulation of gene expression [GO:0010608]; pre-mRNA cleavage required for polyadenylation [GO:0098789]; protein heterotetramerization [GO:0051290]; protein tetramerization [GO:0051262]; termination of RNA polymerase II transcription [GO:0006369]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15169763, ECO:0000269|PubMed:19864460, ECO:0000269|PubMed:20695905, ECO:0000269|PubMed:9659921}. Cytoplasm {ECO:0000269|PubMed:19864460}. Note=Shuttles between the nucleus and the cytoplasm in a transcription- and XPO1/CRM1-independent manner, most probably in complex with the cleavage factor Im complex (CFIm) (PubMed:19864460). In punctate subnuclear structures localized adjacent to nuclear speckles, called paraspeckles (PubMed:15169763). {ECO:0000269|PubMed:15169763, ECO:0000269|PubMed:19864460}.


uniprotID: Q9P021
geneSymbol: CRIPT
length: 101
go: ENSG00000119878;
snps: rs757078301
name:
Cysteine-rich PDZ-binding protein (Cysteine-rich interactor of PDZ three) (Cysteine-rich interactor of PDZ3)

sequence:
MVCEKCEKKLGTVITPDTWKDGARNTTESGGRKLNENKALTSKKARFDPYGKNKFSTCRICKSSVHQPGSHYCQGCAYKKGICAMCGKKVLDTKNYKQTSV

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; dendrite [GO:0030425]; dendritic shaft [GO:0043198]; dendritic spine [GO:0043197]; fibrillar center [GO:0001650]; neuronal cell body [GO:0043025]; nucleolus [GO:0005730]; nucleus [GO:0005634]; postsynaptic density [GO:0014069]; microtubule binding [GO:0008017]; PDZ domain binding [GO:0030165]; protein-containing complex binding [GO:0044877]; scaffold protein binding [GO:0097110]; cytoplasmic microtubule organization [GO:0031122]; establishment of protein localization [GO:0045184]; protein localization to microtubule [GO:0035372]; regulation of postsynaptic density protein 95 clustering [GO:1902897]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Cell projection, dendritic spine {ECO:0000250}. Note=Colocalizes with DLG4 in asymmetric synapses. {ECO:0000250}.


uniprotID: Q6PKH6
geneSymbol: DHRS4L2
length: 230
opentargets: extracellular region [GO:0005576]; oxidoreductase activity [GO:0016491]
drug: DB04200;
snps: rs2273947
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Dehydrogenase/reductase SDR family member 4-like 2 (EC 1.1.-.-) (Short chain dehydrogenase/reductase family 25C member 3)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6PKH6-1; Sequence=Displayed; Name=2; IsoId=Q6PKH6-2; Sequence=VSP_029697; 


uniprotID: P78310
geneSymbol: CXADR
reactome: R-HSA-198933;R-HSA-202733;
pdb: 1EAJ;1F5W;1JEW;1KAC;1P69;1P6A;1RSF;2J12;2J1K;2NPL;2W9L;2WBW;3J6L;3J6M;3J6N;3J6O;
length: 365
go: ENSG00000154639;
snps: rs34727960
name:
Coxsackievirus and adenovirus receptor (CAR) (hCAR) (CVB3-binding protein) (Coxsackievirus B-adenovirus receptor) (HCVADR)

sequence:

opentargets:
acrosomal vesicle [GO:0001669]; adherens junction [GO:0005912]; apicolateral plasma membrane [GO:0016327]; basolateral plasma membrane [GO:0016323]; bicellular tight junction [GO:0005923]; cell body [GO:0044297]; cell junction [GO:0030054]; cell-cell adherens junction [GO:0005913]; cell-cell junction [GO:0005911]; cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; filopodium [GO:0030175]; growth cone [GO:0030426]; integral component of plasma membrane [GO:0005887]; intercalated disc [GO:0014704]; membrane raft [GO:0045121]; neuromuscular junction [GO:0031594]; neuron projection [GO:0043005]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; beta-catenin binding [GO:0008013]; cell adhesion molecule binding [GO:0050839]; cell adhesive protein binding involved in AV node cell-bundle of His cell communication [GO:0086082]; connexin binding [GO:0071253]; identical protein binding [GO:0042802]; integrin binding [GO:0005178]; PDZ domain binding [GO:0030165]; signaling receptor binding [GO:0005102]; virus receptor activity [GO:0001618]; actin cytoskeleton reorganization [GO:0031532]; AV node cell to bundle of His cell communication [GO:0086067]; AV node cell-bundle of His cell adhesion involved in cell communication [GO:0086072]; cardiac muscle fiber development [GO:0048739]; cell-cell junction organization [GO:0045216]; defense response to virus [GO:0051607]; epithelial structure maintenance [GO:0010669]; gamma-delta T cell activation [GO:0046629]; germ cell migration [GO:0008354]; heart development [GO:0007507]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; homotypic cell-cell adhesion [GO:0034109]; leukocyte migration [GO:0050900]; mitochondrion organization [GO:0007005]; negative regulation of cardiac muscle cell proliferation [GO:0060044]; neutrophil chemotaxis [GO:0030593]; regulation of AV node cell action potential [GO:0098904]; regulation of immune response [GO:0050776]; transepithelial transport [GO:0070633]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; Synonyms=SIV; IsoId=P78310-1; Sequence=Displayed; Name=2; Synonyms=CAR2, HCAR2, TVV; IsoId=P78310-2; Sequence=VSP_014825, VSP_014826; Name=3; Synonyms=CAR2/7, Gamma; IsoId=P78310-3; Sequence=VSP_014819, VSP_014820; Name=4; Synonyms=CAR3/7; IsoId=P78310-4; Sequence=VSP_014821, VSP_014822; Name=5; Synonyms=CAR4/7, Beta; IsoId=P78310-5; Sequence=VSP_014823, VSP_014824; Name=6; IsoId=P78310-6; Sequence=VSP_047357; Note=Gene prediction based on EST data.; Name=7; Synonyms=CAR 4/6; IsoId=P78310-7; Sequence=VSP_047729; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000269|PubMed:15533241}; Single-pass type I membrane protein {ECO:0000255}. Basolateral cell membrane {ECO:0000269|PubMed:11316797, ECO:0000269|PubMed:12021372, ECO:0000269|PubMed:12297051, ECO:0000269|PubMed:15364909}; Single-pass type I membrane protein {ECO:0000255}. Cell junction, tight junction {ECO:0000269|PubMed:11734628, ECO:0000269|PubMed:12297051}. Cell junction, adherens junction {ECO:0000269|PubMed:12297051}. Note=In epithelial cells localizes to the apical junction complex composed of tight and adherens junctions (PubMed:12297051). In airway epithelial cells localized to basolateral membrane but not to apical surface (PubMed:11316797). {ECO:0000269|PubMed:11316797, ECO:0000269|PubMed:12297051}.; SUBCELLULAR LOCATION: Isoform 3: Secreted {ECO:0000269|PubMed:14978041}.; SUBCELLULAR LOCATION: Isoform 4: Secreted {ECO:0000269|PubMed:14978041}.; SUBCELLULAR LOCATION: Isoform 5: Secreted {ECO:0000269|PubMed:14978041}.


uniprotID: A6NNS2
geneSymbol: DHRS7C
length: 312
go: ENSG00000184544;
snps: rs2280490
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Dehydrogenase/reductase SDR family member 7C (EC 1.1.-.-) (Short-chain dehydrogenase/reductase family 32C member 2)

sequence:

opentargets:
extracellular region [GO:0005576]; longitudinal sarcoplasmic reticulum [GO:0014801]; sarcoplasmic reticulum membrane [GO:0033017]; retinol dehydrogenase activity [GO:0004745]; regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum [GO:0010880]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A6NNS2-1; Sequence=Displayed; Name=2; IsoId=A6NNS2-2; Sequence=VSP_054852; 


uniprotID: Q9Y4K1
geneSymbol: CRYBG1
pdb: 2DAD;3CW3;
name: Beta/gamma crystallin domain-containing protein 1 (Absent in melanoma 1 protein)
length: 1723
go: ENSG00000112297;
opentargets: carbohydrate binding [GO:0030246]
snps: rs11968933 rs1159148 rs3747787 rs1350902 rs783396 rs2297970 rs1676015
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y4K1-1; Sequence=Displayed; Name=2; IsoId=Q9Y4K1-2; Sequence=VSP_056580, VSP_056581; Note=No experimental confirmation available.; 


uniprotID: Q8TF08
geneSymbol: COX7B2
name: Cytochrome c oxidase subunit 7B2, mitochondrial (Cytochrome c oxidase polypeptide VIIb2)
sequence: MMFPLARNALSSLKIQSILQSMARHSHVKHSPDFHDKYGNAVLASGTAFCVATWVFTATQIGIEWNLSPVGRVTPKEWKHQ
length: 81
go: ENSG00000170516;
snps: rs201505906
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250}.
opentargets:
integral component of membrane [GO:0016021]; mitochondrial respiratory chain [GO:0005746]; respiratory chain complex IV [GO:0045277]; cytochrome-c oxidase activity [GO:0004129]


uniprotID: Q9UKL4
geneSymbol: GJD2
reactome: R-HSA-112303;R-HSA-190861;
pdb: 2N6A;
name: Gap junction delta-2 protein (Connexin-36) (Cx36) (Gap junction alpha-9 protein)
length: 321
go: ENSG00000159248;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
sequence:

opentargets:
connexin complex [GO:0005922]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; gap junction channel activity [GO:0005243]; action potential [GO:0001508]; chemical synaptic transmission [GO:0007268]; visual perception [GO:0007601]


uniprotID: A6NGU7
geneSymbol: LINC01546
name: Putative uncharacterized protein encoded by LINC01546
sequence: MGELAASANHGHSPCYPERKGTPGDLSKRKMLVHFYPRRHSHPRATQQWILKNKTLCRRIKE
length: 62
isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A6NGU7-1; Sequence=Displayed; Name=2; IsoId=A6NGU7-2; Sequence=VSP_032859; Note=No experimental confirmation available.; 


uniprotID: Q8TB03
geneSymbol: CXorf38
name: Uncharacterized protein CXorf38
length: 319
go: ENSG00000185753;
snps: rs17145855
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8TB03-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q8TB03-2; Sequence=VSP_014620; Note=No experimental confirmation available.; Name=3; IsoId=Q8TB03-3; Sequence=VSP_014621, VSP_014622; Note=No experimental confirmation available.; 


uniprotID: P32302
geneSymbol: CXCR5
reactome: R-HSA-380108;R-HSA-418594;
length: 372
go: ENSG00000160683;
snps: rs665648
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
C-X-C chemokine receptor type 5 (CXC-R5) (CXCR-5) (Burkitt lymphoma receptor 1) (Monocyte-derived receptor 15) (MDR-15) (CD antigen CD185)

sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; C-C chemokine binding [GO:0019957]; C-C chemokine receptor activity [GO:0016493]; C-X-C chemokine receptor activity [GO:0016494]; chemokine binding [GO:0019956]; G protein-coupled receptor activity [GO:0004930]; B cell activation [GO:0042113]; calcium-mediated signaling [GO:0019722]; cell chemotaxis [GO:0060326]; chemotaxis [GO:0006935]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; leukocyte chemotaxis [GO:0030595]; lymph node development [GO:0048535]; positive regulation of cytokinesis [GO:0032467]; positive regulation of cytosolic calcium ion concentration [GO:0007204]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=P32302-1; Sequence=Displayed; Name=Short; IsoId=P32302-2; Sequence=VSP_001892; 


uniprotID: P20853
geneSymbol: CYP2A7
reactome: R-HSA-211935;R-HSA-211981;R-HSA-211999;
name: Cytochrome P450 2A7 (EC 1.14.14.1) (CYPIIA7) (Cytochrome P450 IIA4)
length: 494
go: ENSG00000198077;
snps: rs10425176 rs10425169 rs4142867 rs4079366 rs2545754 rs3869579 rs2261144 rs12460590
sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; intracellular membrane-bounded organelle [GO:0043231]; organelle membrane [GO:0031090]; arachidonic acid epoxygenase activity [GO:0008392]; aromatase activity [GO:0070330]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen [GO:0016712]; oxygen binding [GO:0019825]; steroid hydroxylase activity [GO:0008395]; coumarin metabolic process [GO:0009804]; epoxygenase P450 pathway [GO:0019373]; exogenous drug catabolic process [GO:0042738]; organic acid metabolic process [GO:0006082]; oxidation-reduction process [GO:0055114]; xenobiotic metabolic process [GO:0006805]


uniprotID: Q9P2I0
geneSymbol: CPSF2
reactome: R-HSA-109688;R-HSA-159231;R-HSA-72163;R-HSA-72187;R-HSA-77595;
length: 782
go: ENSG00000165934;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Cleavage and polyadenylation specificity factor subunit 2 (Cleavage and polyadenylation specificity factor 100 kDa subunit) (CPSF 100 kDa subunit)

sequence:

opentargets:
membrane [GO:0016020]; mRNA cleavage and polyadenylation specificity factor complex [GO:0005847]; nucleoplasm [GO:0005654]; RNA binding [GO:0003723]; mRNA 3'-end processing [GO:0031124]; mRNA 3'-end processing by stem-loop binding and cleavage [GO:0006398]; mRNA cleavage [GO:0006379]; mRNA export from nucleus [GO:0006406]; mRNA polyadenylation [GO:0006378]; mRNA splicing, via spliceosome [GO:0000398]; termination of RNA polymerase II transcription [GO:0006369]


uniprotID: Q02928
geneSymbol: CYP4A11
reactome: R-HSA-1989781;R-HSA-211935;R-HSA-211958;R-HSA-211979;R-HSA-2142691;R-HSA-2142816;
length: 519
go: ENSG00000187048;
snps: rs12759923 rs3899049 rs1126742
name:
Cytochrome P450 4A11 (20-hydroxyeicosatetraenoic acid synthase) (20-HETE synthase) (CYP4AII) (CYPIVA11) (Cytochrome P-450HK-omega) (Cytochrome P450HL-omega) (Fatty acid omega-hydroxylase) (Lauric acid omega-hydroxylase) (Long-chain fatty acid omega-monooxygenase) (EC 1.14.14.80)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; intracellular membrane-bounded organelle [GO:0043231]; organelle membrane [GO:0031090]; alkane 1-monooxygenase activity [GO:0018685]; arachidonic acid epoxygenase activity [GO:0008392]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; leukotriene-B4 20-monooxygenase activity [GO:0050051]; monooxygenase activity [GO:0004497]; arachidonic acid metabolic process [GO:0019369]; epoxygenase P450 pathway [GO:0019373]; fatty acid metabolic process [GO:0006631]; leukotriene metabolic process [GO:0006691]; long-chain fatty acid metabolic process [GO:0001676]; omega-hydroxylase P450 pathway [GO:0097267]; oxidation-reduction process [GO:0055114]; positive regulation of icosanoid secretion [GO:0032305]; pressure natriuresis [GO:0003095]; regulation of lipid metabolic process [GO:0019216]; renal water homeostasis [GO:0003091]; sodium ion homeostasis [GO:0055078]

drug:
DB00515;DB00636;DB01234;DB00655;DB00898;DB00448;DB00157;DB00082;DB00738;DB01174;DB04977;DB01045;DB00755;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q02928-1; Sequence=Displayed; Name=2; IsoId=Q02928-2; Sequence=VSP_034595; 


uniprotID: P43320
geneSymbol: CRYBB2
pdb: 1YTQ;
name: Beta-crystallin B2 (Beta-B2 crystallin) (Beta-crystallin Bp)
length: 205
go: ENSG00000244752;
snps: rs16986560
sequence:

opentargets:
identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; structural constituent of eye lens [GO:0005212]; structural molecule activity [GO:0005198]; camera-type eye development [GO:0043010]; response to stimulus [GO:0050896]; visual perception [GO:0007601]


uniprotID: P07316
geneSymbol: CRYGB
pdb: 1LEU;1MYV;1MYX;1MYY;1MZ1;1MZ2;1MZ3;2JDF;2JDG;
name: Gamma-crystallin B (Gamma-B-crystallin) (Gamma-crystallin 1-2)
length: 175
go: ENSG00000182187;
snps: rs2241980 rs796287
sequence:
MGKITFYEDRAFQGRSYECTTDCPNLQPYFSRCNSIRVESGCWMIYERPNYQGHQYFLRRGEYPDYQQWMGLSDSIRSCCLIPPHSGAYRMKIYDRDELRGQMSELTDDCISVQDRFHLTEIHSLNVLEGSWILYEMPNYRGRQYLLRPGEYRRFLDWGAPNAKVGSLRRVMDLY

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; structural constituent of eye lens [GO:0005212]; lens fiber cell morphogenesis [GO:0070309]; visual perception [GO:0007601]


uniprotID: Q02930
geneSymbol: CREB5
length: 508
go: ENSG00000146592;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Cyclic AMP-responsive element-binding protein 5 (CREB-5) (cAMP-responsive element-binding protein 5) (CRE-BPa)

sequence:

opentargets:
extracellular exosome [GO:0070062]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; positive regulation of transcription, DNA-templated [GO:0045893]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Alpha; IsoId=Q02930-1; Sequence=Displayed; Name=2; Synonyms=Beta; IsoId=Q02930-2; Sequence=VSP_050010; Name=3; Synonyms=Gamma; IsoId=Q02930-3; Sequence=VSP_050011; Name=4; Synonyms=Delta; IsoId=Q02930-4; Sequence=VSP_050012, VSP_050013; 


uniprotID: Q8WXF5
geneSymbol: CRYGN
name: Gamma-crystallin N (Gamma-N-crystallin)
length: 182
sequence:
MAQRSGKITLYEGKHFTGQKLEVFGDCDNFQDRGFMNRVNSIHVESGAWVCFNHPDFRGQQFILEHGDYPDFFRWNSHSDHMGSCRPVGMHGEHFRLEIFEGCNFTGQCLEFLEDSPFLQSRGWVKNCVNTIKVYGDGAAWSPRSFGAEDFQLSSSLQSDQGPEEATTKPATTQPPFLTANL

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WXF5-1; Sequence=Displayed; Name=2; IsoId=Q8WXF5-2; Sequence=VSP_029507, VSP_029508; Note=No experimental confirmation available.; 


uniprotID: Q8TE96
geneSymbol: DQX1
name: ATP-dependent RNA helicase DQX1 (EC 3.6.4.12) (DEAQ box polypeptide 1)
length: 717
go: ENSG00000144045;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
nucleus [GO:0005634]; ATP binding [GO:0005524]; ATP-dependent 3'-5' RNA helicase activity [GO:0034459]; RNA binding [GO:0003723]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8TE96-1; Sequence=Displayed; Name=2; IsoId=Q8TE96-2; Sequence=VSP_024470; Name=3; IsoId=Q8TE96-3; Sequence=VSP_024471, VSP_024472; 


uniprotID: P67870
geneSymbol: CSNK2B
pdb: 1DS5;1JWH;1QF8;3EED;4DGL;4MD7;4MD8;4MD9;4NH1;
name: Casein kinase II subunit beta (CK II beta) (Phosvitin) (Protein G5a)
length: 215
go: ENSG00000204435;
reactome:
R-HSA-1483191;R-HSA-201688;R-HSA-2514853;R-HSA-445144;R-HSA-6798695;R-HSA-6804756;R-HSA-6814122;R-HSA-8934903;R-HSA-8939243;R-HSA-8948751;

sequence:

opentargets:
chromatin [GO:0000785]; cilium [GO:0005929]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; nuclear matrix [GO:0016363]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein kinase CK2 complex [GO:0005956]; secretory granule lumen [GO:0034774]; chromatin binding [GO:0003682]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; protein domain specific binding [GO:0019904]; protein kinase regulator activity [GO:0019887]; protein serine/threonine kinase activity [GO:0004674]; ribonucleoprotein complex binding [GO:0043021]; signaling receptor binding [GO:0005102]; transcription factor binding [GO:0008134]; adiponectin-activated signaling pathway [GO:0033211]; cellular protein-containing complex assembly [GO:0034622]; endothelial tube morphogenesis [GO:0061154]; liver regeneration [GO:0097421]; negative regulation of blood vessel endothelial cell migration [GO:0043537]; negative regulation of cell proliferation [GO:0008285]; neutrophil degranulation [GO:0043312]; peptidyl-threonine phosphorylation [GO:0018107]; positive regulation of activin receptor signaling pathway [GO:0032927]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; regulation of DNA binding [GO:0051101]; regulation of signal transduction by p53 class mediator [GO:1901796]; response to testosterone [GO:0033574]; signal transduction [GO:0007165]; Wnt signaling pathway [GO:0016055]


uniprotID: Q16643
geneSymbol: DBN1
pdb: 5Y1Z;
name: Drebrin (Developmentally-regulated brain protein)
length: 649
go: ENSG00000113758;
snps: rs2544809 rs28538572
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; actomyosin [GO:0042641]; cortical cytoskeleton [GO:0030863]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; dendrite [GO:0030425]; gap junction [GO:0005921]; glutamatergic synapse [GO:0098978]; growth cone [GO:0030426]; postsynaptic cytosol [GO:0099524]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; actin binding [GO:0003779]; cadherin binding [GO:0045296]; profilin binding [GO:0005522]; actin filament organization [GO:0007015]; cell communication by chemical coupling [GO:0010643]; cell communication by electrical coupling [GO:0010644]; maintenance of protein location in cell [GO:0032507]; neural precursor cell proliferation [GO:0061351]; regulation of dendrite development [GO:0050773]; regulation of neuronal synaptic plasticity [GO:0048168]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Drebrin E, drebrin E2, Embryonic drebrin; IsoId=Q16643-1; Sequence=Displayed; Name=2; IsoId=Q16643-2; Sequence=VSP_028175; Note=No experimental confirmation available.; Name=3; Synonyms=Drebrin A; IsoId=Q16643-3; Sequence=VSP_053443; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20215400}. Cytoplasm, cell cortex {ECO:0000269|PubMed:20215400}. Cell junction {ECO:0000269|PubMed:20215400}. Cell projection {ECO:0000250|UniProtKB:Q9QXS6}. Cell projection, growth cone {ECO:0000250|UniProtKB:Q9QXS6}. Note=In the absence of antigen, evenly distributed throughout subcortical regions of the T-cell membrane and cytoplasm. In the presence of antigen, distributes to the immunological synapse forming at the T-cell-APC contact area, where it localizes at the peripheral and distal supramolecular activation clusters (SMAC) (PubMed:20215400). Colocalized with DBN1, RUFY3 and F-actin at the transitional domain of the axonal growth cone (By similarity). {ECO:0000250|UniProtKB:Q9QXS6, ECO:0000269|PubMed:20215400}.


uniprotID: A6NN92
geneSymbol: GJE1
name: Putative gap junction epsilon-1 protein (Connexin-23) (Cx23)
length: 205
go: ENSG00000203733;
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000255}.
sequence:

opentargets:
connexin complex [GO:0005922]; integral component of membrane [GO:0016021]; cell communication [GO:0007154]; cell morphogenesis [GO:0000902]; lens development in camera-type eye [GO:0002088]; organ growth [GO:0035265]


uniprotID: O95377
geneSymbol: GJB5
reactome: R-HSA-190861;
name: Gap junction beta-5 protein (Connexin-31.1) (Cx31.1)
length: 273
go: ENSG00000189280;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
sequence:

opentargets:
connexin complex [GO:0005922]; integral component of membrane [GO:0016021]; cell communication [GO:0007154]; epidermis development [GO:0008544]; epididymis development [GO:1905867]; labyrinthine layer morphogenesis [GO:0060713]; spongiotrophoblast differentiation [GO:0060708]; trophoblast giant cell differentiation [GO:0060707]


uniprotID: Q9Y6H8
geneSymbol: GJA3
reactome: R-HSA-190861;
name: Gap junction alpha-3 protein (Connexin-46) (Cx46)
length: 435
go: ENSG00000121743;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
sequence:

opentargets:
connexin complex [GO:0005922]; integral component of membrane [GO:0016021]; gap junction channel activity [GO:0005243]; cell-cell signaling [GO:0007267]; visual perception [GO:0007601]

snps:
rs397514703 rs864309691 rs121917823 rs121917827 rs864309687 rs121917825 rs140332366 rs140332366 rs968566 


uniprotID: Q70SY1
geneSymbol: CREB3L2
reactome: R-HSA-8874211;
length: 520
go: ENSG00000182158;
snps: rs273957
name:
Cyclic AMP-responsive element-binding protein 3-like protein 2 (cAMP-responsive element-binding protein 3-like protein 2) (BBF2 human homolog on chromosome 7) [Cleaved into: Processed cyclic AMP-responsive element-binding protein 3-like protein 2]

sequence:

opentargets:
chromatin [GO:0000785]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear endoplasmic reticulum [GO:0097038]; cAMP response element binding [GO:0035497]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; transcription regulatory region DNA binding [GO:0044212]; cartilage development [GO:0051216]; chondrocyte differentiation [GO:0002062]; endoplasmic reticulum unfolded protein response [GO:0030968]; ER to Golgi vesicle-mediated transport [GO:0006888]; positive regulation of neuron projection development [GO:0010976]; positive regulation of transcription, DNA-templated [GO:0045893]; response to endoplasmic reticulum stress [GO:0034976]; response to wounding [GO:0009611]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q70SY1-1; Sequence=Displayed; Name=2; IsoId=Q70SY1-2; Sequence=VSP_025636; Note=No experimental confirmation available.; Name=3; IsoId=Q70SY1-3; Sequence=VSP_025634, VSP_025635; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q8BH52}; Single-pass type II membrane protein. Note=ER membrane resident protein. Upon ER stress, translocated to the Golgi apparatus where it is cleaved. The cytosolic N-terminal fragment (processed cyclic AMP-responsive element-binding protein 3-like protein 1) is transported into the nucleus. {ECO:0000250|UniProtKB:Q8BH52}.; SUBCELLULAR LOCATION: Processed cyclic AMP-responsive element-binding protein 3-like protein 2: Nucleus. Note=Upon ER stress, translocated into the nucleus. {ECO:0000250|UniProtKB:Q8BH52}.


uniprotID: Q9HC73
geneSymbol: CRLF2
reactome: R-HSA-1266695;
pdb: 5J11;5J12;
length: 371
go: ENSG00000205755;
name:
Cytokine receptor-like factor 2 (Cytokine receptor-like 2) (IL-XR) (Thymic stromal lymphopoietin protein receptor) (TSLP receptor)

sequence:

opentargets:
external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; cytokine binding [GO:0019955]; cytokine receptor activity [GO:0004896]; cytokine-mediated signaling pathway [GO:0019221]; interleukin-7-mediated signaling pathway [GO:0038111]; positive regulation of cell proliferation [GO:0008284]; positive regulation of interleukin-5 secretion [GO:2000664]; positive regulation of mast cell activation [GO:0033005]; positive regulation of STAT cascade [GO:1904894]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9HC73-1; Sequence=Displayed; Name=2; IsoId=Q9HC73-2; Sequence=VSP_008786, VSP_008787; Note=No experimental confirmation available.; Name=3; IsoId=Q9HC73-3; Sequence=VSP_057463; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000305}.


uniprotID: P05813
geneSymbol: CRYBA1
length: 215
go: ENSG00000108255;
name:
Beta-crystallin A3 [Cleaved into: Beta-crystallin A3, isoform A1, Delta4 form; Beta-crystallin A3, isoform A1, Delta7 form; Beta-crystallin A3, isoform A1, Delta8 form]

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; structural constituent of eye lens [GO:0005212]; lens development in camera-type eye [GO:0002088]; negative regulation of cytokine production [GO:0001818]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of phosphatidylinositol 3-kinase signaling [GO:0014067]; negative regulation of protein kinase B signaling [GO:0051898]; negative regulation of TOR signaling [GO:0032007]; positive regulation of anoikis [GO:2000210]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=2;  Name=A3; IsoId=P05813-1; Sequence=Displayed; Name=A1; IsoId=P05813-2; Sequence=VSP_018710; 


uniprotID: O43889
geneSymbol: CREB3
reactome: R-HSA-8874211;
length: 371
go: ENSG00000107175;
name:
Cyclic AMP-responsive element-binding protein 3 (CREB-3) (cAMP-responsive element-binding protein 3) (Leucine zipper protein) (Luman) (Transcription factor LZIP-alpha) [Cleaved into: Processed cyclic AMP-responsive element-binding protein 3 (N-terminal Luman) (Transcriptionally active form)]

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of endoplasmic reticulum membrane [GO:0030176]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; neuronal cell body [GO:0043025]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cAMP response element binding [GO:0035497]; cAMP response element binding protein binding [GO:0008140]; CCR1 chemokine receptor binding [GO:0031726]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000982]; chemotaxis [GO:0006935]; cytoplasmic sequestering of transcription factor [GO:0042994]; endoplasmic reticulum unfolded protein response [GO:0030968]; establishment of viral latency [GO:0019043]; induction of positive chemotaxis [GO:0050930]; negative regulation of cell cycle [GO:0045786]; negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway [GO:1902236]; negative regulation of nuclear receptor transcription coactivator activity [GO:2000326]; positive regulation of calcium ion transport [GO:0051928]; positive regulation of cell migration [GO:0030335]; positive regulation of deacetylase activity [GO:0090045]; positive regulation of defense response to virus by host [GO:0002230]; positive regulation of monocyte chemotaxis [GO:0090026]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response [GO:0006990]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of apoptotic process [GO:0042981]; regulation of cell growth [GO:0001558]; regulation of cell proliferation [GO:0042127]; release from viral latency [GO:0019046]; response to endoplasmic reticulum stress [GO:0034976]; transcription, DNA-templated [GO:0006351]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=LZIP; IsoId=O43889-2; Sequence=Displayed; Name=2; Synonyms=small LZIP, sLZIP; IsoId=O43889-3; Sequence=VSP_059386; Note=Does not contain a helical transmembrane domain.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Endoplasmic reticulum membrane {ECO:0000269|PubMed:10623756, ECO:0000269|PubMed:12138176, ECO:0000269|PubMed:18391022}; Single-pass type II membrane protein {ECO:0000255, ECO:0000269|PubMed:12138176}. Golgi apparatus {ECO:0000269|PubMed:10623756}. Note=Colocalizes with HCFC1 in neuronal cell bodies of the trigeminal ganglia (PubMed:10623756). Colocalizes with DCSTAMP in the ER membrane of immature dendritic cell (DC) (PubMed:20546900). Colocalizes with CANX, CCR1, HCFC1 in the ER membrane (PubMed:10623756). {ECO:0000269|PubMed:10623756, ECO:0000269|PubMed:20546900}.; SUBCELLULAR LOCATION: Isoform 2: Nucleus {ECO:0000269|PubMed:19779205}. Cytoplasm {ECO:0000269|PubMed:19779205}. Note=Predominantly in the nucleus (PubMed:19779205). Not associated with membranes (PubMed:19779205). {ECO:0000269|PubMed:19779205}.; SUBCELLULAR LOCATION: Processed cyclic AMP-responsive element-binding protein 3: Nucleus. Note=Upon RIP activation the transcriptional active processed cyclic AMP-responsive element-binding protein 3 form translocates into the nucleus. Detected in the nucleus upon dendritic cell maturation and RIP activation. Colocalizes with CREBRF in nuclear foci. Colocalizes with CREBZF in promyelocytic leukemia protein nuclear bodies (PML-NB). {ECO:0000269|PubMed:10675342, ECO:0000269|PubMed:15705566, ECO:0000269|PubMed:18391022, ECO:0000269|PubMed:20546900}.; SUBCELLULAR LOCATION: Isoform 1: Cytoplasm. Note=(Microbial infection) Sequestered into the cytoplasm by the HCV core protein. {ECO:0000269|PubMed:10675342}.


uniprotID: Q6PEY0
geneSymbol: GJB7
reactome: R-HSA-190861;
name: Gap junction beta-7 protein (Connexin-25) (Cx25)
length: 223
go: ENSG00000164411;
snps: rs4707358 rs41273281 rs6934603
sequence:

opentargets:
connexin complex [GO:0005922]; integral component of membrane [GO:0016021]; gap junction channel activity [GO:0005243]; cell communication [GO:0007154]; transmembrane transport [GO:0055085]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cell junction, gap junction {ECO:0000250}.


uniprotID: Q6UWD8
geneSymbol: C16orf54
name: Transmembrane protein C16orf54
length: 224
go: ENSG00000185905;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: P98187
geneSymbol: CYP4F8
reactome: R-HSA-211935;R-HSA-211979;R-HSA-2142691;
name: Cytochrome P450 4F8 (EC 1.14.14.1) (CYPIVF8)
length: 520
go: ENSG00000186526;
snps: rs2072600 rs2056822
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; organelle membrane [GO:0031090]; alkane 1-monooxygenase activity [GO:0018685]; aromatase activity [GO:0070330]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; monooxygenase activity [GO:0004497]; icosanoid metabolic process [GO:0006690]; prostaglandin metabolic process [GO:0006693]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Microsome membrane {ECO:0000250}.


uniprotID: A8MZG2
geneSymbol: C16orf90
name: Uncharacterized protein C16orf90
length: 182
sequence:
MEALVCAFSELHIREDAVSQAQGRPGHPDAPPNIYEGGLGSPQPQCPSAQGSKPKNFRLRHLRGLGLYLESHPPPTGQCESHWLGRLMAGGCLPQPEGTAWALDLPQGTLGPRNSLCSALLEARLPRDSLGSSASSSSMDPDKGALPQPSPSRLRPKRSWGTWEEAMCPLCKRTRSGALERP


uniprotID: Q6FI81
geneSymbol: CIAPIN1
reactome: R-HSA-2564830;
pdb: 2LD4;2YUI;4M7R;
name: Anamorsin (Cytokine-induced apoptosis inhibitor 1) (Fe-S cluster assembly protein DRE2 homolog)
length: 312
go: ENSG00000005194;
snps: rs11557672 rs11557674
sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrial intermembrane space [GO:0005758]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; 2 iron, 2 sulfur cluster binding [GO:0051537]; 4 iron, 4 sulfur cluster binding [GO:0051539]; electron transfer activity [GO:0009055]; metal ion binding [GO:0046872]; methyltransferase activity [GO:0008168]; apoptotic process [GO:0006915]; hemopoiesis [GO:0030097]; iron-sulfur cluster assembly [GO:0016226]; negative regulation of apoptotic process [GO:0043066]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6FI81-1; Sequence=Displayed; Name=2; IsoId=Q6FI81-2; Sequence=VSP_012360; Note=No experimental confirmation available.; Name=3; IsoId=Q6FI81-3; Sequence=VSP_012361; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03115, ECO:0000269|PubMed:16957168}. Nucleus {ECO:0000255|HAMAP-Rule:MF_03115, ECO:0000269|PubMed:16957168}. Mitochondrion intermembrane space {ECO:0000255|HAMAP-Rule:MF_03115, ECO:0000269|PubMed:21700214}.


uniprotID: P20023
geneSymbol: CR2
reactome: R-HSA-977606;
pdb: 1GHQ;1LY2;1W2R;1W2S;2ATY;2GSX;3OED;
length: 1033
go: ENSG00000117322;
snps: rs17615 rs17618 rs17617
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Complement receptor type 2 (Cr2) (Complement C3d receptor) (Epstein-Barr virus receptor) (EBV receptor) (CD antigen CD21)

sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; complement binding [GO:0001848]; complement receptor activity [GO:0004875]; DNA binding [GO:0003677]; protein homodimerization activity [GO:0042803]; transmembrane signaling receptor activity [GO:0004888]; virus receptor activity [GO:0001618]; B cell differentiation [GO:0030183]; B cell proliferation [GO:0042100]; complement activation, classical pathway [GO:0006958]; immune response [GO:0006955]; innate immune response [GO:0045087]; regulation of complement activation [GO:0030449]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=A; IsoId=P20023-1; Sequence=Displayed; Name=B; IsoId=P20023-2; Sequence=VSP_001208, VSP_001209; Name=C; IsoId=P20023-3; Sequence=VSP_001210; Name=D; IsoId=P20023-4; Sequence=VSP_001210, VSP_001211; 


uniprotID: Q86YQ8
geneSymbol: CPNE8
name: Copine-8 (Copine VIII)
length: 564
go: ENSG00000139117;
sequence:

opentargets:
extracellular exosome [GO:0070062]; plasma membrane [GO:0005886]; calcium-dependent phospholipid binding [GO:0005544]; cellular response to calcium ion [GO:0071277]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86YQ8-1; Sequence=Displayed; Name=2; IsoId=Q86YQ8-2; Sequence=VSP_056287; 


uniprotID: Q96HD1
geneSymbol: CRELD1
name: Cysteine-rich with EGF-like domain protein 1
length: 420
go: ENSG00000163703;
snps: rs279552 rs28941780 rs2302787 rs121912626 rs28942092 rs28942091
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; integral component of membrane [GO:0016021]; calcium ion binding [GO:0005509]; extracellular matrix structural constituent [GO:0005201]; cardiac septum development [GO:0003279]; endocardial cushion development [GO:0003197]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q96HD1-1; Sequence=Displayed; Name=2; IsoId=Q96HD1-2; Sequence=VSP_016091; 


uniprotID: Q8N465
geneSymbol: D2HGDH
reactome: R-HSA-880009;
name: D-2-hydroxyglutarate dehydrogenase, mitochondrial (EC 1.1.99.-)
length: 521
go: ENSG00000180902;
snps: rs4675887 rs121434361 rs1106639 rs1105273 rs267606759 rs121434362 rs121434360
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305|PubMed:15070399}.
sequence:

opentargets:
extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; (R)-2-hydroxyglutarate dehydrogenase activity [GO:0051990]; D-lactate dehydrogenase (cytochrome) activity [GO:0004458]; FAD binding [GO:0071949]; 2-oxoglutarate metabolic process [GO:0006103]; cellular protein metabolic process [GO:0044267]; lactate oxidation [GO:0019516]; respiratory electron transport chain [GO:0022904]; response to cobalt ion [GO:0032025]; response to manganese ion [GO:0010042]; response to zinc ion [GO:0010043]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N465-1; Sequence=Displayed; Name=2; IsoId=Q8N465-2; Sequence=VSP_017876, VSP_017877, VSP_017878; Note=No experimental confirmation available.; Name=3; IsoId=Q8N465-3; Sequence=VSP_054389, VSP_054390; Note=No experimental confirmation available.; 


uniprotID: Q05707
geneSymbol: COL14A1
reactome: R-HSA-1442490;R-HSA-1650814;R-HSA-2022090;R-HSA-8948216;
name: Collagen alpha-1(XIV) chain (Undulin)
length: 1796
go: ENSG00000187955;
snps: rs4870723 rs56815167 rs2305606 rs11774228 rs17833992
sequence:

opentargets:
collagen trimer [GO:0005581]; collagen type XIV trimer [GO:0005596]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; collagen binding [GO:0005518]; extracellular matrix structural constituent [GO:0005201]; extracellular matrix structural constituent conferring tensile strength [GO:0030020]; protein binding, bridging [GO:0030674]; RNA binding [GO:0003723]; cell-cell adhesion [GO:0098609]; collagen fibril organization [GO:0030199]; extracellular matrix organization [GO:0030198]; growth plate cartilage chondrocyte morphogenesis [GO:0003429]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1 {ECO:0000269|PubMed:9427527}; Synonyms=Undulin 1 {ECO:0000303|PubMed:1716629}, Un1 {ECO:0000303|PubMed:1716629}; IsoId=Q05707-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:9427527}; IsoId=Q05707-2; Sequence=VSP_051654; Name=3 {ECO:0000269|PubMed:1716629}; Synonyms=Undulin 2 {ECO:0000303|PubMed:1716629}, Un2 {ECO:0000303|PubMed:1716629}; IsoId=Q05707-3; Sequence=VSP_051653; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250|UniProtKB:P32018}.


uniprotID: O75131
geneSymbol: CPNE3
reactome: R-HSA-1483206;R-HSA-6798695;
name: Copine-3 (Copine III)
length: 537
go: ENSG00000085719;
snps: rs41333046 rs2304789
sequence:

opentargets:
azurophil granule membrane [GO:0035577]; cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; calcium-dependent phospholipid binding [GO:0005544]; calcium-dependent protein binding [GO:0048306]; protein serine/threonine kinase activity [GO:0004674]; receptor tyrosine kinase binding [GO:0030971]; RNA binding [GO:0003723]; transporter activity [GO:0005215]; cellular response to calcium ion [GO:0071277]; cellular response to growth factor stimulus [GO:0071363]; ERBB2 signaling pathway [GO:0038128]; glycerophospholipid biosynthetic process [GO:0046474]; lipid metabolic process [GO:0006629]; neutrophil degranulation [GO:0043312]; positive regulation of cell migration [GO:0030335]; vesicle-mediated transport [GO:0016192]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20010870, ECO:0000269|PubMed:21087455}. Cytoplasm {ECO:0000269|PubMed:12949241, ECO:0000269|PubMed:20010870, ECO:0000269|PubMed:21087455}. Cell membrane {ECO:0000269|PubMed:20010870, ECO:0000269|PubMed:21087455}. Cell junction {ECO:0000269|PubMed:20010870}. Cell junction, focal adhesion {ECO:0000269|PubMed:20010870}. Note=Associates to the membrane in a calcium-dependent manner (PubMed:20010870). Translocates to the cell membrane and the nucleus in a calcium- or growth factor heregulin-dependent manner (PubMed:21087455, PubMed:20010870). Colocalizes with the tyrosine phosphorylated ERBB2 form at cell membrane and focal adhesions in a calcium- or growth factor heregulin-dependent manner (PubMed:20010870). {ECO:0000269|PubMed:20010870, ECO:0000269|PubMed:21087455}.


uniprotID: O95639
geneSymbol: CPSF4
reactome: R-HSA-109688;R-HSA-159231;R-HSA-168315;R-HSA-6784531;R-HSA-72163;R-HSA-72187;R-HSA-77595;
pdb: 2D9N;2RHK;6DNH;6FBS;6FUW;
length: 269
go: ENSG00000160917;
location: SUBCELLULAR LOCATION: Nucleus.
name:
Cleavage and polyadenylation specificity factor subunit 4 (Cleavage and polyadenylation specificity factor 30 kDa subunit) (CPSF 30 kDa subunit) (NS1 effector domain-binding protein 1) (Neb-1) (No arches homolog)

sequence:

opentargets:
intracellular membrane-bounded organelle [GO:0043231]; mRNA cleavage and polyadenylation specificity factor complex [GO:0005847]; nucleoplasm [GO:0005654]; RNA binding [GO:0003723]; zinc ion binding [GO:0008270]; modification by virus of host mRNA processing [GO:0046778]; mRNA 3'-end processing [GO:0031124]; mRNA export from nucleus [GO:0006406]; mRNA splicing, via spliceosome [GO:0000398]; pre-mRNA cleavage required for polyadenylation [GO:0098789]; termination of RNA polymerase II transcription [GO:0006369]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O95639-1; Sequence=Displayed; Name=2; IsoId=O95639-2; Sequence=VSP_008601; Note=No experimental confirmation available.; Name=3; IsoId=O95639-3; Sequence=VSP_008602; Note=May be due to a competing acceptor splice site. No experimental confirmation available.; 


uniprotID: Q2VPA4
geneSymbol: CR1L
name: Complement component receptor 1-like protein (Complement C4b-binding protein CR-1-like protein)
length: 569
go: ENSG00000197721;
snps: rs2296158 rs3085 rs12729569 rs6683902 rs2796257
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; membrane [GO:0016020]; receptor complex [GO:0043235]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q2VPA4-1; Sequence=Displayed; Name=2; IsoId=Q2VPA4-2; Sequence=VSP_031151, VSP_031152, VSP_031153; Note=No experimental confirmation available.; Name=3; IsoId=Q2VPA4-3; Sequence=VSP_031152, VSP_031153; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14687939}. Membrane {ECO:0000269|PubMed:14687939}. Secreted {ECO:0000269|PubMed:14687939}. Note=Predominantly found in association with the membrane fraction, but also located in the cytoplasm and in the supernatant.


uniprotID: Q66GS9
geneSymbol: CEP135
reactome: R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-8854518;
pdb: 5FCN;5NG4;
name: Centrosomal protein of 135 kDa (Cep135) (Centrosomal protein 4)
length: 1140
go: ENSG00000174799;
snps: rs3214045
sequence:

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; cytosol [GO:0005829]; protein C-terminus binding [GO:0008022]; centriole replication [GO:0007099]; centriole-centriole cohesion [GO:0010457]; ciliary basal body-plasma membrane docking [GO:0097711]; G2/M transition of mitotic cell cycle [GO:0000086]; positive regulation of establishment of protein localization [GO:1904951]; positive regulation of non-motile cilium assembly [GO:1902857]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q66GS9-1; Sequence=Displayed; Name=2; IsoId=Q66GS9-2; Sequence=VSP_012743, VSP_012744; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:17681131}. Note=During centriole biogenesis, it is concentrated within the proximal lumen of both parental centrioles and procentrioles.


uniprotID: P68400
geneSymbol: CSNK2A1
name: Casein kinase II subunit alpha (CK II alpha) (EC 2.7.11.1)
length: 391
go: ENSG00000101266;
drug: DB03127;DB08846;DB04395;DB02709;DB04462;
snps: rs869312845 rs869312849 rs869312848 rs869312840
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24962073}.
reactome:
R-HSA-1483191;R-HSA-201688;R-HSA-2514853;R-HSA-445144;R-HSA-6804756;R-HSA-6814122;R-HSA-8934903;R-HSA-8939243;R-HSA-8948751;

pdb:
1JWH;1NA7;1PJK;2PVR;2ZJW;3AMY;3AT2;3AT3;3AT4;3AXW;3BQC;3C13;3FWQ;3H30;3JUH;3MB6;3MB7;3NGA;3NSZ;3OWJ;3OWK;3OWL;3PE1;3PE2;3PE4;3Q04;3Q9W;3Q9X;3Q9Y;3Q9Z;3QA0;3R0T;3RPS;3TAX;3U4U;3U87;3U9C;3W8L;3WAR;3WIK;3WIL;3WOW;4DGL;4FBX;4GRB;4GUB;4GYW;4GYY;4GZ3;4IB5;4KWP;4MD7;4MD8;4MD9;4NH1;4RLL;4UB7;4UBA;5B0X;5CLP;5CQU;5CQW;5CS6;5CSH;5CSP;5CSV;5CT0;5CTP;5CU0;5CU2;5CU3;5CU4;5CU6;5CVF;5CVG;5CVH;5CX9;5H8B;5H8E;5H8G;5HGV;5KU8;5KWH;5M44;5M4C;5M4F;5M4I;5MMF;5MMR;5MO5;5MO6;5MO7;5MO8;5MOD;5MOE;5MOH;5MOT;5MOV;5MOW;5MP8;5MPJ;5N1V;5N9K;5N9L;5N9N;5NQC;5OMY;5ONI;5OQU;5ORH;5ORJ;5ORK;5OS7;5OS8;5OSL;5OSP;5OSR;5OSU;5OSZ;5OT5;5OT6;5OTD;5OTH;5OTI;5OTL;5OTO;5OTP;5OTQ;5OTR;5OTS;5OTY;5OTZ;5OUE;5OUL;5OUM;5OUU;5OWH;5OWL;5OYF;5T1H;5VIE;5VIF;6EHK;6EHU;6EII;6GIH;6GMD;

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; NuRD complex [GO:0016581]; plasma membrane [GO:0005886]; protein kinase CK2 complex [GO:0005956]; Sin3 complex [GO:0016580]; ATP binding [GO:0005524]; Hsp90 protein binding [GO:0051879]; identical protein binding [GO:0042802]; kinase activity [GO:0016301]; protein N-terminus binding [GO:0047485]; protein serine/threonine kinase activity [GO:0004674]; apoptotic process [GO:0006915]; cell cycle [GO:0007049]; chaperone-mediated protein folding [GO:0061077]; negative regulation of apoptotic signaling pathway [GO:2001234]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of ubiquitin-dependent protein catabolic process [GO:2000059]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; positive regulation of cell growth [GO:0030307]; positive regulation of cell proliferation [GO:0008284]; positive regulation of protein catabolic process [GO:0045732]; positive regulation of Wnt signaling pathway [GO:0030177]; protein phosphorylation [GO:0006468]; regulation of chromosome separation [GO:1905818]; regulation of signal transduction by p53 class mediator [GO:1901796]; rhythmic process [GO:0048511]; signal transduction [GO:0007165]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P68400-1; Sequence=Displayed; Name=2; IsoId=P68400-2; Sequence=VSP_041925; 


uniprotID: P23508
geneSymbol: MCC
name: Colorectal mutant cancer protein (Protein MCC)
length: 829
go: ENSG00000171444;
snps: rs185322500 rs6594681 rs35269015 rs760495893 rs121917732 rs121917731 rs17313892
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; lamellipodium [GO:0030027]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; signaling receptor activity [GO:0038023]; establishment of protein localization [GO:0045184]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of epithelial cell migration [GO:0010633]; negative regulation of epithelial cell proliferation [GO:0050680]; signal transduction [GO:0007165]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P23508-1; Sequence=Displayed; Name=2; IsoId=P23508-2; Sequence=VSP_037660; 

location:
SUBCELLULAR LOCATION: Cell membrane. Cell projection, lamellipodium. Nucleus {ECO:0000269|PubMed:24824780}. Cytoplasm {ECO:0000269|PubMed:24824780}. Note=Colocalizes with actin at the leading edge of polarized cells.


uniprotID: O00622
geneSymbol: CYR61
reactome: R-HSA-381426;R-HSA-8957275;
pdb: 4D0Z;4D11;
length: 381
go: ENSG00000142871;
snps: rs9658587
location: SUBCELLULAR LOCATION: Secreted.
name:
Protein CYR61 (CCN family member 1) (Cysteine-rich angiogenic inducer 61) (Insulin-like growth factor-binding protein 10) (IBP-10) (IGF-binding protein 10) (IGFBP-10) (Protein GIG1)

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular matrix binding [GO:0050840]; heparin binding [GO:0008201]; insulin-like growth factor binding [GO:0005520]; integrin binding [GO:0005178]; anatomical structure morphogenesis [GO:0009653]; apoptotic process involved in heart morphogenesis [GO:0003278]; atrial septum morphogenesis [GO:0060413]; atrioventricular valve morphogenesis [GO:0003181]; cell adhesion [GO:0007155]; cell proliferation [GO:0008283]; cellular protein metabolic process [GO:0044267]; chemotaxis [GO:0006935]; chondroblast differentiation [GO:0060591]; chorio-allantoic fusion [GO:0060710]; extracellular matrix organization [GO:0030198]; intussusceptive angiogenesis [GO:0002041]; labyrinthine layer blood vessel development [GO:0060716]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell death [GO:0060548]; osteoblast differentiation [GO:0001649]; positive regulation of BMP signaling pathway [GO:0030513]; positive regulation of cartilage development [GO:0061036]; positive regulation of cell migration [GO:0030335]; positive regulation of cell-substrate adhesion [GO:0010811]; positive regulation of ceramide biosynthetic process [GO:2000304]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of osteoblast proliferation [GO:0033690]; positive regulation of phospholipase activity [GO:0010518]; positive regulation of protein kinase activity [GO:0045860]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of transcription by RNA polymerase II [GO:0045944]; post-translational protein modification [GO:0043687]; reactive oxygen species metabolic process [GO:0072593]; regulation of cell growth [GO:0001558]; regulation of ERK1 and ERK2 cascade [GO:0070372]; ventricular septum development [GO:0003281]; wound healing, spreading of cells [GO:0044319]


uniprotID: Q8IUI8
geneSymbol: CRLF3
length: 442
go: ENSG00000176390;
snps: rs3764418 rs11867457
name:
Cytokine receptor-like factor 3 (Cytokine receptor-like molecule 9) (CREME-9) (Cytokine receptor-related protein 4) (Type I cytokine receptor-like factor p48)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; DNA binding [GO:0003677]; identical protein binding [GO:0042802]; G1/S transition of mitotic cell cycle [GO:0000082]; negative regulation of cell growth [GO:0030308]; positive regulation of cell cycle arrest [GO:0071158]; positive regulation of JAK-STAT cascade [GO:0046427]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=p48.6; IsoId=Q8IUI8-1; Sequence=Displayed; Name=2; Synonyms=p48.2; IsoId=Q8IUI8-2; Sequence=VSP_044648; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19427400}. Note=The EGFP- and MYC-tagged protein has been shown to be cytoplasmic. {ECO:0000269|PubMed:19427400}.


uniprotID: Q68DL7
geneSymbol: C18orf63
name: Uncharacterized protein C18orf63
length: 685
go: ENSG00000206043;
sequence:


uniprotID: Q5TA50
geneSymbol: CPTP
reactome: R-HSA-1660662;
pdb: 4K80;4K84;4K85;4K8N;4KBS;4KF6;
length: 214
go: ENSG00000224051;
name:
Ceramide-1-phosphate transfer protein (CPTP) (Glycolipid transfer protein domain-containing protein 1) (GLTP domain-containing protein 1)

sequence:

opentargets:
cytosol [GO:0005829]; endosome membrane [GO:0010008]; Golgi apparatus [GO:0005794]; membrane [GO:0016020]; nuclear outer membrane [GO:0005640]; plasma membrane [GO:0005886]; ceramide 1-phosphate binding [GO:1902387]; ceramide 1-phosphate transporter activity [GO:1902388]; intermembrane lipid transfer activity [GO:0120013]; lipid binding [GO:0008289]; phospholipid binding [GO:0005543]; phospholipid transporter activity [GO:0005548]; ceramide 1-phosphate transport [GO:1902389]; ceramide transport [GO:0035627]; glycosphingolipid metabolic process [GO:0006687]; intermembrane lipid transfer [GO:0120009]; negative regulation of autophagy [GO:0010507]; negative regulation of interleukin-1 beta secretion [GO:0050713]; negative regulation of NLRP3 inflammasome complex assembly [GO:1900226]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:23863933}. Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:23863933}; Peripheral membrane protein {ECO:0000269|PubMed:23863933}. Cell membrane {ECO:0000269|PubMed:23863933}; Peripheral membrane protein {ECO:0000269|PubMed:23863933}; Cytoplasmic side {ECO:0000269|PubMed:23863933}. Endosome membrane {ECO:0000269|PubMed:23863933}; Peripheral membrane protein {ECO:0000269|PubMed:23863933}. Nucleus outer membrane {ECO:0000269|PubMed:23863933}; Peripheral membrane protein {ECO:0000269|PubMed:23863933}.


uniprotID: Q9UII6
geneSymbol: DUSP13
pdb: 2GWO;2PQ5;
length: 198
go: ENSG00000079393;
snps: rs16932004 rs3088142 rs16931996
name:
Dual specificity protein phosphatase 13 isoform B (DUSP13B) (EC 3.1.3.16) (EC 3.1.3.48) (Dual specificity phosphatase SKRP4) (Testis- and skeletal-muscle-specific DSP)

sequence:
MDSLQKQDLRRPKIHGAVQASPYQPPTLASLQRLLWVRQAATLNHIDEVWPSLFLGDAYAARDKSKLIQLGITHVVNAAAGKFQVDTGAKFYRGMSLEYYGIEADDNPFFDLSVYFLPVARYIRAALSVPQGRVLVHCAMGVSRSATLVLAFLMICENMTLVEAIQTVQAHRNICPNSGFLRQLQVLDNRLGRETGRF

opentargets:
phosphatase activity [GO:0016791]; protein tyrosine phosphatase activity [GO:0004725]; protein tyrosine/serine/threonine phosphatase activity [GO:0008138]; dephosphorylation [GO:0016311]; meiotic cell cycle [GO:0051321]; protein dephosphorylation [GO:0006470]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=7;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=TMDP; IsoId=Q9UII6-1; Sequence=Displayed; Note=Produced by alternative promoter usage.; Name=2; IsoId=Q6B8I1-5; Sequence=External; Note=Produced by alternative promoter usage and alternative splicing. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=4; Synonyms=TMDP-L2; IsoId=Q9UII6-4; Sequence=VSP_037858; Note=Produced by alternative promoter usage and alternative splicing.; Name=5; IsoId=Q6B8I1-1; Sequence=External; Note=Produced by alternative promoter usage.; Name=6; IsoId=Q6B8I1-2; Sequence=External; Note=Produced by alternative promoter usage and alternative splicing. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; Name=7; IsoId=Q6B8I1-3; Sequence=External; Note=Produced by alternative promoter usage and alternative splicing. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; Name=8; IsoId=Q6B8I1-4; Sequence=External; Note=Produced by alternative promoter usage and alternative splicing. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; 


uniprotID: C9JQL5
name: Putative dispanin subfamily A member 2d (DSPA2d)
length: 133
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:
MNHTVQTFFSPVNSGQPPNYEMLKEEHKVAVLGVPHNPAPPTSTVIHIRSKTSVPHHVVWSLFNTLFMNPCCLGFIAFAYSVKSRDRKMVGNVTGAQAYASTTKCLNIWALILGILMTILLIIIPVLIFQAHR

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; defense response to virus [GO:0051607]; negative regulation of viral entry into host cell [GO:0046597]; negative regulation of viral genome replication [GO:0045071]; response to interferon-alpha [GO:0035455]; response to interferon-beta [GO:0035456]; response to interferon-gamma [GO:0034341]; type I interferon signaling pathway [GO:0060337]


uniprotID: O00574
geneSymbol: CXCR6
reactome: R-HSA-380108;R-HSA-418594;
length: 342
go: ENSG00000172215;
snps: rs2234355
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
C-X-C chemokine receptor type 6 (CXC-R6) (CXCR-6) (CDw186) (G-protein coupled receptor STRL33) (G-protein coupled receptor bonzo) (CD antigen CD186)

sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; C-C chemokine binding [GO:0019957]; C-C chemokine receptor activity [GO:0016493]; C-X-C chemokine binding [GO:0019958]; C-X-C chemokine receptor activity [GO:0016494]; chemokine binding [GO:0019956]; coreceptor activity [GO:0015026]; G protein-coupled receptor activity [GO:0004930]; calcium-mediated signaling [GO:0019722]; cell chemotaxis [GO:0060326]; chemotaxis [GO:0006935]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; inflammatory response [GO:0006954]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; viral genome replication [GO:0019079]


uniprotID: Q6UXH1
geneSymbol: CRELD2
name: Cysteine-rich with EGF-like domain protein 2
length: 353
go: ENSG00000184164;
snps: rs8139422 rs11545762 rs11545763
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}. Endoplasmic reticulum {ECO:0000269|PubMed:16238698}.
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; calcium ion binding [GO:0005509]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=Delta; IsoId=Q6UXH1-1; Sequence=Displayed; Name=2; Synonyms=Alpha; IsoId=Q6UXH1-2; Sequence=VSP_021341; Name=3; Synonyms=Beta; IsoId=Q6UXH1-3; Sequence=VSP_021342, VSP_021343; Note=Minor isoform.; Name=4; Synonyms=Gamma; IsoId=Q6UXH1-4; Sequence=VSP_021340; Name=5; Synonyms=Epsilon; IsoId=Q6UXH1-5; Sequence=VSP_021339; Name=6; Synonyms=Zeta; IsoId=Q6UXH1-6; Sequence=VSP_021344; 


uniprotID: P29033
geneSymbol: GJB2
reactome: R-HSA-190704;R-HSA-190827;R-HSA-190861;R-HSA-190872;
pdb: 1XIR;2ZW3;3IZ1;3IZ2;5ER7;5ERA;5KJ3;5KJG;
name: Gap junction beta-2 protein (Connexin-26) (Cx26)
length: 226
go: ENSG00000165474;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
sequence:

opentargets:
astrocyte projection [GO:0097449]; cell body [GO:0044297]; connexin complex [GO:0005922]; cytosol [GO:0005829]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; integral component of membrane [GO:0016021]; lateral plasma membrane [GO:0016328]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; gap junction channel activity [GO:0005243]; identical protein binding [GO:0042802]; aging [GO:0007568]; cell-cell signaling [GO:0007267]; cellular response to dexamethasone stimulus [GO:0071549]; cellular response to glucagon stimulus [GO:0071377]; cellular response to oxidative stress [GO:0034599]; decidualization [GO:0046697]; epididymis development [GO:1905867]; gap junction assembly [GO:0016264]; inner ear development [GO:0048839]; response to antibiotic [GO:0046677]; response to estradiol [GO:0032355]; response to human chorionic gonadotropin [GO:0044752]; response to ischemia [GO:0002931]; response to lipopolysaccharide [GO:0032496]; response to progesterone [GO:0032570]; response to retinoic acid [GO:0032526]; sensory perception of sound [GO:0007605]

snps:
rs104894408 rs28929485 rs2274084 rs111033190 rs111033190 rs35887622 rs72474224 rs104894407 rs104894413 rs72561723 rs28931594 rs28931594 rs104894412 rs104894404 rs104894410 rs104894403 rs121912968 rs28931593 rs104894402 rs104894397 rs111033218 rs104894409 rs104894409 rs80338945 rs397516871 rs111033299 rs80338946 rs2274083 rs111033188 rs111033196 rs397516875 rs779018464 rs779018464 rs104894401 rs80338948 rs111033186 rs28931592 rs34988750 rs376898963 rs111033360 rs200104362 rs774518779 rs568612627 rs28931595 rs80338950 rs80338950 rs998045226 rs397516878 rs104894406 rs76838169 


uniprotID: Q53TN4
geneSymbol: CYBRD1
reactome: R-HSA-917937;
name: Cytochrome b reductase 1 (EC 1.-.-.-) (Duodenal cytochrome b) (Ferric-chelate reductase 3)
length: 286
go: ENSG00000071967;
snps: rs16859487 rs62181680 rs10455
sequence:

opentargets:
brush border membrane [GO:0031526]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]; plasma membrane [GO:0005886]; ferric-chelate reductase activity [GO:0000293]; metal ion binding [GO:0046872]; oxidoreductase activity [GO:0016491]; oxidoreductase activity, oxidizing metal ions [GO:0016722]; cellular iron ion homeostasis [GO:0006879]; response to iron ion [GO:0010039]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q53TN4-1; Sequence=Displayed; Name=2; IsoId=Q53TN4-2; Sequence=VSP_042039; Note=No experimental confirmation available.; Name=3; IsoId=Q53TN4-3; Sequence=VSP_044945; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:12949720}; Multi-pass membrane protein {ECO:0000269|PubMed:12949720}.


uniprotID: P0CZ25
geneSymbol: DNAH10OS
name: Uncharacterized protein DNAH10OS
length: 163
go: ENSG00000250091;
sequence:
MHSLPRSGSIRRTHSDTQATGWPPPQRIGDSPGPSPAFLSCPPSLCGGAAQTGDPVALPHGPEKWVWGGGLSPRNPHSWGIKAHGLRPPWAPRLERCMVPESEWAPWQPQLPCEPKWLGSRKSKPHRESGLRGGGPSRCAKRGTHSCGPRESGGPDTCHLPCH


uniprotID: Q96PT3
geneSymbol: DUX5
name: Double homeobox protein 5
length: 197
snps: rs10865697 rs9755233 rs12374009 rs12632317 rs12632317
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:
MPAEVHGSPPASLCPCQSVKFRPGLPEMALLTALDDTLPEEAQGPGRRMILLSTPSQSDALRACFERNLYPGIATKEELAQGIDIPEPRVQIWFQNERSCQLRQHRRQSRPWPGRRDPQKGRRKRTAITGSQTALLLRAFEKDRFPGIAAREELARETGLPESRIQIWFQNRRARHRGQSGRAPTQASIRCNAAPIG

opentargets:
nucleus [GO:0005634]; sequence-specific DNA binding [GO:0043565]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96PT3-1; Sequence=Displayed; Name=2; IsoId=Q96PT3-2; Sequence=VSP_020959; 


uniprotID: Q16829
geneSymbol: DUSP7
reactome: R-HSA-112409;R-HSA-202670;R-HSA-5675221;
pdb: 4Y2E;
length: 419
go: ENSG00000164086;
snps: rs34821455
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9788880}.
name:
Dual specificity protein phosphatase 7 (EC 3.1.3.16) (EC 3.1.3.48) (Dual specificity protein phosphatase PYST2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; MAP kinase tyrosine/serine/threonine phosphatase activity [GO:0017017]; protein tyrosine phosphatase activity [GO:0004725]; protein tyrosine/serine/threonine phosphatase activity [GO:0008138]; activation of MAPK activity [GO:0000187]; MAPK cascade [GO:0000165]; negative regulation of MAP kinase activity [GO:0043407]; peptidyl-tyrosine dephosphorylation [GO:0035335]; protein dephosphorylation [GO:0006470]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage; Named isoforms=2;  Name=1; Synonyms=PYST2-L; IsoId=Q16829-1; Sequence=Displayed; Name=2; Synonyms=PYST2-S; IsoId=Q16829-2; Sequence=VSP_012822; 


uniprotID: Q8WWB3
geneSymbol: DYDC1
name: DPY30 domain-containing protein 1
length: 177
go: ENSG00000170788;
opentargets: Set1C/COMPASS complex [GO:0048188]; histone H3-K4 methylation [GO:0051568]
sequence:
MESIYLQKHLGACLTQGLAEVARVRPVDPIEYLALWIYKYKENVTMEQLRQKEMAKLERERELALMEQEMMERLKAEELLLQQQQLALQLELEMQEKERQRIQELQRAQEQLGKEMRMNMENLVRNEDILHSEEATLDSGKTLAEISDRYGAPNLSRVEELDEPMFSDIALNIDQDL

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WWB3-1; Sequence=Displayed; Name=2; IsoId=Q8WWB3-2; Sequence=VSP_056983; Note=No experimental confirmation available.; 


uniprotID: Q96G46
geneSymbol: DUS3L
length: 650
go: ENSG00000141994;
snps: rs2436487 rs12977803
name:
tRNA-dihydrouridine(47) synthase [NAD(P)(+)]-like (EC 1.3.1.-) (tRNA-dihydrouridine synthase 3-like)

sequence:

opentargets:
flavin adenine dinucleotide binding [GO:0050660]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; tRNA dihydrouridine synthase activity [GO:0017150]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96G46-1; Sequence=Displayed; Name=2; IsoId=Q96G46-2; Sequence=VSP_019971, VSP_019972; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=Q96G46-3; Sequence=VSP_019970; Note=No experimental confirmation available.; 


uniprotID: P54792
geneSymbol: DVL1P1
length: 670
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
name:
Putative segment polarity protein dishevelled homolog DVL1P1 (DSH homolog 1-like) (Segment polarity protein dishevelled homolog DVL-1-like) (Dishevelled-1-like)

sequence:

opentargets:
cytosol [GO:0005829]; frizzled binding [GO:0005109]; canonical Wnt signaling pathway [GO:0060070]; heart development [GO:0007507]; intracellular signal transduction [GO:0035556]; planar cell polarity pathway involved in neural tube closure [GO:0090179]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=P54792-1; Sequence=Displayed; Name=Short; IsoId=P54792-2; Sequence=VSP_001320; 


uniprotID: Q68J44
geneSymbol: DUPD1
pdb: 2Y96;
name: Dual specificity phosphatase DUPD1 (EC 3.1.3.16) (EC 3.1.3.48) (Dual specificity phosphatase 27)
length: 220
go: ENSG00000188716;
snps: rs11594934 rs16931938
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17498703}.
sequence:

opentargets:
cytoplasm [GO:0005737]; protein-containing complex [GO:0032991]; protein homodimerization activity [GO:0042803]; protein tyrosine phosphatase activity [GO:0004725]; protein tyrosine/serine/threonine phosphatase activity [GO:0008138]; protein dephosphorylation [GO:0006470]


uniprotID: O14640
geneSymbol: DVL1
reactome: R-HSA-201681;R-HSA-201688;R-HSA-4086400;R-HSA-4641258;R-HSA-4641262;R-HSA-5368598;R-HSA-5663220;
name: Segment polarity protein dishevelled homolog DVL-1 (Dishevelled-1) (DSH homolog 1)
length: 695
go: ENSG00000107404;
sequence:

opentargets:
clathrin-coated vesicle [GO:0030136]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; glutamatergic synapse [GO:0098978]; growth cone [GO:0030426]; lateral plasma membrane [GO:0016328]; microtubule [GO:0005874]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; postsynaptic density [GO:0014069]; presynapse [GO:0098793]; Schaffer collateral - CA1 synapse [GO:0098685]; synapse [GO:0045202]; Wnt signalosome [GO:1990909]; beta-catenin binding [GO:0008013]; enzyme binding [GO:0019899]; frizzled binding [GO:0005109]; identical protein binding [GO:0042802]; protein kinase binding [GO:0019901]; Rac GTPase binding [GO:0048365]; axon extension [GO:0048675]; axon guidance [GO:0007411]; beta-catenin destruction complex disassembly [GO:1904886]; canonical Wnt signaling pathway [GO:0060070]; cochlea morphogenesis [GO:0090103]; collateral sprouting [GO:0048668]; convergent extension involved in neural plate elongation [GO:0022007]; cytoplasmic microtubule organization [GO:0031122]; dendrite morphogenesis [GO:0048813]; dendritic spine morphogenesis [GO:0060997]; intracellular signal transduction [GO:0035556]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of protein binding [GO:0032091]; negative regulation of protein kinase activity [GO:0006469]; neural tube development [GO:0021915]; neuromuscular junction development [GO:0007528]; neurotransmitter secretion [GO:0007269]; non-canonical Wnt signaling pathway [GO:0035567]; planar cell polarity pathway involved in neural tube closure [GO:0090179]; positive regulation of excitatory postsynaptic potential [GO:2000463]; positive regulation of neuron projection arborization [GO:0150012]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; positive regulation of protein localization to presynapse [GO:1905386]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of transcription, DNA-templated [GO:0045893]; prepulse inhibition [GO:0060134]; presynapse assembly [GO:0099054]; protein localization to microtubule [GO:0035372]; protein localization to nucleus [GO:0034504]; protein stabilization [GO:0050821]; receptor clustering [GO:0043113]; regulation of cellular protein localization [GO:1903827]; regulation of neurotransmitter levels [GO:0001505]; regulation of synaptic vesicle exocytosis [GO:2000300]; skeletal muscle acetylcholine-gated channel clustering [GO:0071340]; social behavior [GO:0035176]; synapse organization [GO:0050808]; transcription by RNA polymerase II [GO:0006366]; Wnt signaling pathway, planar cell polarity pathway [GO:0060071]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O14640-1; Sequence=Displayed; Name=2; IsoId=O14640-2; Sequence=VSP_024460; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Cytoplasm, cytosol {ECO:0000250}. Cytoplasmic vesicle {ECO:0000250}. Note=Localizes at the cell membrane upon interaction with frizzled family members. {ECO:0000250}.


