# annotation

uniprotID: Q8IYA2
geneSymbol: CCDC144CP
length: 1237
name:
Putative coiled-coil domain-containing protein 144C (Coiled-coil domain-containing protein 144C pseudogene)

sequence:


uniprotID: Q13895
geneSymbol: BYSL
reactome: R-HSA-6791226;
pdb: 6G18;6G4S;6G4W;
name: Bystin
length: 437
go: ENSG00000112578;
snps: rs2296916 rs3828855
sequence:

opentargets:
apical part of cell [GO:0045177]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; preribosome, small subunit precursor [GO:0030688]; RNA binding [GO:0003723]; snoRNA binding [GO:0030515]; cell adhesion [GO:0007155]; cell proliferation [GO:0008283]; female pregnancy [GO:0007565]; maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000462]; rRNA processing [GO:0006364]; trophectodermal cell differentiation [GO:0001829]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17381424}. Nucleus, nucleolus {ECO:0000269|PubMed:17381424}. Note=Associated with 40S ribosomal subunits.


uniprotID: Q13901
geneSymbol: C1D
reactome: R-HSA-6791226;
name: Nuclear nucleic acid-binding protein C1D (hC1D)
length: 141
go: ENSG00000197223;
snps: rs10444
sequence:
MAGEEINEDYPVEIHEYLSAFENSIGAVDEMLKTMMSVSRNELLQKLDPLEQAKVDLVSAYTLNSMFWVYLATQGVNPKEHPVKQELERIRVYMNRVKEITDKKKAGKLDRGAASRFVKNALWEPKSKNASKVANKGKSKS

opentargets:
cytoplasm [GO:0005737]; nuclear exosome (RNase complex) [GO:0000176]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcriptional repressor complex [GO:0017053]; DNA binding [GO:0003677]; nuclear receptor binding [GO:0016922]; RNA binding [GO:0003723]; transcription corepressor activity [GO:0003714]; apoptotic process [GO:0006915]; maturation of 5.8S rRNA [GO:0000460]; negative regulation of transcription, DNA-templated [GO:0045892]; rRNA processing [GO:0006364]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11801738}. Cytoplasm {ECO:0000269|PubMed:11801738}. Nucleus, nucleolus {ECO:0000269|PubMed:17412707}. Note=EXOSC10 is required for nucleolar localization (PubMed:17412707). Colocalizes with TSNAX in the nucleus (PubMed:11801738). {ECO:0000269|PubMed:11801738, ECO:0000269|PubMed:17412707}.


uniprotID: Q86VB7
geneSymbol: CD163
reactome: R-HSA-2168880;
length: 1156
go: ENSG00000177575;
drug: DB05389;
snps: rs4883263
name:
Scavenger receptor cysteine-rich type 1 protein M130 (Hemoglobin scavenger receptor) (CD antigen CD163) [Cleaved into: Soluble CD163 (sCD163)]

sequence:

opentargets:
endocytic vesicle membrane [GO:0030666]; external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; scavenger receptor activity [GO:0005044]; acute-phase response [GO:0006953]; receptor-mediated endocytosis [GO:0006898]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Long tail variant 1; IsoId=Q86VB7-1; Sequence=Displayed; Name=2; Synonyms=Long tail variant 2; IsoId=Q86VB7-2; Sequence=VSP_019014; Name=3; Synonyms=Short tail variant; IsoId=Q86VB7-3; Sequence=VSP_019015; Name=4; IsoId=Q86VB7-4; Sequence=VSP_019013, VSP_019015; 

location:
SUBCELLULAR LOCATION: Soluble CD163: Secreted {ECO:0000269|PubMed:12296867}.; SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10577520, ECO:0000269|PubMed:10648003}; Single-pass type I membrane protein {ECO:0000269|PubMed:10577520, ECO:0000269|PubMed:10648003}. Note=Isoform 1 and isoform 2 show a lower surface expression when expressed in cells.


uniprotID: Q6UWJ8
geneSymbol: CD164L2
name: CD164 sialomucin-like 2 protein
length: 174
go: ENSG00000174950;
opentargets: cytoplasmic vesicle [GO:0031410]; integral component of membrane [GO:0016021]
snps: rs2504779
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:
MEAPGPRALRTALCGGCCCLLLCAQLAVAGKGARGFGRGALIRLNIWPAVQGACKQLEVCEHCVEGDGARNLSSCVWEQCRPEEPGHCVAQSEVVKEGCSIYNRSEACPAAHHHPTYEPKTVTTGSPPVPEAHSPGFDGASFIGGVVLVLSLQAVAFFVLHFLKAKDSTYQTLI

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6UWJ8-1; Sequence=Displayed; Name=2; IsoId=Q6UWJ8-2; Sequence=VSP_017031; 


uniprotID: Q9Y4F5
geneSymbol: CEP170B
name: Centrosomal protein of 170 kDa protein B (Centrosomal protein 170B) (Cep170B)
length: 1589
go: ENSG00000099814;
opentargets: cytoplasm [GO:0005737]; microtubule [GO:0005874]
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q498L0}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y4F5-1; Sequence=Displayed; Name=2; IsoId=Q9Y4F5-2; Sequence=VSP_024248; Name=3; IsoId=Q9Y4F5-3; Sequence=VSP_024247; Note=No experimental confirmation available.; 


uniprotID: Q96L14
geneSymbol: CEP170P1
name: Cep170-like protein (CEP170 pseudogene 1)
length: 293
opentargets: identical protein binding [GO:0042802]
sequence:


uniprotID: Q9BXJ1
geneSymbol: C1QTNF1
length: 281
go: ENSG00000173918;
snps: rs35035542
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Complement C1q tumor necrosis factor-related protein 1 (G protein-coupled receptor-interacting protein) (GIP)

sequence:

opentargets:
collagen trimer [GO:0005581]; extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; collagen binding [GO:0005518]; negative regulation of platelet activation [GO:0010544]; negative regulation of platelet aggregation [GO:0090331]; positive regulation of aldosterone secretion [GO:2000860]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of gene expression [GO:0010628]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of protein kinase B signaling [GO:0051897]; protein heterotrimerization [GO:0070208]; protein homooligomerization [GO:0051260]; regulation of glucose metabolic process [GO:0010906]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BXJ1-1; Sequence=Displayed; Name=2; IsoId=Q9BXJ1-2; Sequence=VSP_055570; Note=No experimental confirmation available.; 


uniprotID: Q9NPY3
geneSymbol: CD93
reactome: R-HSA-6798695;
length: 652
go: ENSG00000125810;
snps: rs138932459 rs3746731
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Complement component C1q receptor (C1q/MBL/SPA receptor) (C1qR) (C1qR(p)) (C1qRp) (CDw93) (Complement component 1 q subcomponent receptor 1) (Matrix-remodeling-associated protein 4) (CD antigen CD93)

sequence:

opentargets:
cell surface [GO:0009986]; ficolin-1-rich granule membrane [GO:0101003]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; specific granule membrane [GO:0035579]; tertiary granule membrane [GO:0070821]; calcium ion binding [GO:0005509]; carbohydrate binding [GO:0030246]; complement component C1q binding [GO:0001849]; signaling receptor activity [GO:0038023]; cell-cell adhesion [GO:0098609]; macrophage activation [GO:0042116]; neutrophil degranulation [GO:0043312]; phagocytosis [GO:0006909]; viral process [GO:0016032]


uniprotID: Q9NRR8
geneSymbol: CDC42SE1
name: CDC42 small effector protein 1 (CDC42-binding protein SCIP1) (Small effector of CDC42 protein 1)
sequence: MSEFWHKLGCCVVEKPQPKKKRRRIDRTMIGEPMNFVHLTHIGSGEMGAGDGLAMTGAVQEQMRSKGNRDRPWSNSRGL
length: 79
go: ENSG00000197622;
opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; plasma membrane [GO:0005886]; GTPase inhibitor activity [GO:0005095]; Rho GTPase binding [GO:0017048]; structural molecule activity [GO:0005198]; phagocytosis [GO:0006909]; regulation of cell shape [GO:0008360]; regulation of Rho protein signal transduction [GO:0035023]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Alpha; IsoId=Q9NRR8-1; Sequence=Displayed; Name=2; Synonyms=Beta; IsoId=Q9NRR8-2; Sequence=VSP_033717; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cell membrane; Lipid-anchor. Note=Recruited to the activated TCR prior actin polymerization.


uniprotID: Q99643
geneSymbol: SDHC
reactome: R-HSA-611105;R-HSA-71403;
length: 169
go: ENSG00000143252;
drug: DB00139;DB08689;
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein.
name:
Succinate dehydrogenase cytochrome b560 subunit, mitochondrial (Integral membrane protein CII-3) (QPs-1) (QPs1) (Succinate dehydrogenase complex subunit C) (Succinate-ubiquinone oxidoreductase cytochrome B large subunit) (CYBL)

sequence:
MAALLLRHVGRHCLRAHFSPQLCIRNAVPLGTTAKEEMERFWNKNIGSNRPLSPHITIYSWSLPMAMSICHRGTGIALSAGVSLFGMSALLLPGNFESYLELVKSLCLGPALIHTAKFALVFPLMYHTWNGIRHLMWDLGKGLKIPQLYQSGVVVLVLTVLSSMGLAAM

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) [GO:0005749]; mitochondrion [GO:0005739]; respiratory chain complex II [GO:0045273]; electron transfer activity [GO:0009055]; heme binding [GO:0020037]; metal ion binding [GO:0046872]; succinate dehydrogenase activity [GO:0000104]; ubiquinone binding [GO:0048039]; aerobic respiration [GO:0009060]; mitochondrial electron transport, succinate to ubiquinone [GO:0006121]; oxidation-reduction process [GO:0055114]; response to oxidative stress [GO:0006979]; tricarboxylic acid cycle [GO:0006099]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q99643-1; Sequence=Displayed; Name=2; IsoId=Q99643-2; Sequence=VSP_041383; Name=3; Synonyms=CII-3b; IsoId=Q99643-3; Sequence=VSP_041382; Name=4; IsoId=Q99643-4; Sequence=VSP_041382, VSP_041383; Name=5; IsoId=Q99643-5; Sequence=VSP_041381; 


uniprotID: O76031
geneSymbol: CLPX
name: ATP-dependent Clp protease ATP-binding subunit clpX-like, mitochondrial
length: 633
go: ENSG00000166855;
snps: rs35754835
location: SUBCELLULAR LOCATION: Mitochondrion. Mitochondrion matrix, mitochondrion nucleoid.
sequence:

opentargets:
cytosol [GO:0005829]; endopeptidase Clp complex [GO:0009368]; mitochondrial endopeptidase Clp complex [GO:0009841]; mitochondrial inner membrane [GO:0005743]; mitochondrial matrix [GO:0005759]; mitochondrial nucleoid [GO:0042645]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; ATP binding [GO:0005524]; ATP-dependent peptidase activity [GO:0004176]; ATPase activity [GO:0016887]; metal ion binding [GO:0046872]; peptidase activator activity [GO:0016504]; unfolded protein binding [GO:0051082]; ATP metabolic process [GO:0046034]; protein catabolic process [GO:0030163]; protein folding [GO:0006457]; proteolysis involved in cellular protein catabolic process [GO:0051603]


uniprotID: P58418
geneSymbol: CLRN1
name: Clarin-1 (Usher syndrome type-3 protein)
length: 232
go: ENSG00000163646;
snps: rs3796241 rs374390376 rs121908143 rs111033258 rs121908141 rs121908142 rs775098953
sequence:

opentargets:
basal part of cell [GO:0045178]; integral component of membrane [GO:0016021]; lamellipodium [GO:0030027]; microtubule [GO:0005874]; microvillus [GO:0005902]; plasma membrane [GO:0005886]; stereocilium [GO:0032420]; trans-Golgi network transport vesicle [GO:0030140]; actin filament organization [GO:0007015]; auditory receptor cell stereocilium organization [GO:0060088]; cell motility [GO:0048870]; equilibrioception [GO:0050957]; photoreceptor cell maintenance [GO:0045494]; positive regulation of lamellipodium assembly [GO:0010592]; response to stimulus [GO:0050896]; sensory perception of light stimulus [GO:0050953]; sensory perception of sound [GO:0007605]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=P58418-3; Sequence=Displayed; Name=2; Synonyms=A; IsoId=P58418-1; Sequence=VSP_022868, VSP_022869; Name=3; Synonyms=0-2-2b-3; IsoId=P58418-4; Sequence=VSP_043303; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21310491}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q9HAW4
geneSymbol: CLSPN
reactome: R-HSA-111465;R-HSA-176187;R-HSA-5689880;R-HSA-5693607;
name: Claspin (hClaspin)
length: 1339
go: ENSG00000092853;
snps: rs7537203 rs34390044 rs35490896
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12766152}.
sequence:

opentargets:
Golgi apparatus [GO:0005794]; nucleoplasm [GO:0005654]; anaphase-promoting complex binding [GO:0010997]; DNA binding [GO:0003677]; activation of protein kinase activity [GO:0032147]; DNA damage checkpoint [GO:0000077]; DNA repair [GO:0006281]; DNA replication [GO:0006260]; mitotic DNA replication checkpoint [GO:0033314]; mitotic G2 DNA damage checkpoint [GO:0007095]; peptidyl-serine phosphorylation [GO:0018105]; protein deubiquitination [GO:0016579]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9HAW4-1; Sequence=Displayed; Name=2; IsoId=Q9HAW4-2; Sequence=VSP_036033; Name=3; IsoId=Q9HAW4-3; Sequence=VSP_036034; 


uniprotID: P11021
geneSymbol: HSPA5
reactome: R-HSA-114608;R-HSA-3371453;R-HSA-381033;R-HSA-381042;R-HSA-381070;R-HSA-381183;R-HSA-983170;
pdb: 3IUC;3LDL;3LDN;3LDO;3LDP;5E84;5E85;5E86;5EVZ;5EX5;5EXW;5EY4;5F0X;5F1X;5F2R;6ASY;
length: 654
go: ENSG00000044574;
drug: DB00945;DB00025;
snps: rs35356639
name:
Endoplasmic reticulum chaperone BiP (EC 3.6.4.10) (78 kDa glucose-regulated protein) (GRP-78) (Binding-immunoglobulin protein) (BiP) (Heat shock protein 70 family protein 5) (HSP70 family protein 5) (Heat shock protein family A member 5) (Immunoglobulin heavy chain-binding protein)

sequence:

opentargets:
cell surface [GO:0009986]; cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum chaperone complex [GO:0034663]; endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; integral component of endoplasmic reticulum membrane [GO:0030176]; melanosome [GO:0042470]; membrane [GO:0016020]; midbody [GO:0030496]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; smooth endoplasmic reticulum [GO:0005790]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; ATPase activity, coupled [GO:0042623]; cadherin binding [GO:0045296]; calcium ion binding [GO:0005509]; chaperone binding [GO:0051087]; enzyme binding [GO:0019899]; heat shock protein binding [GO:0031072]; misfolded protein binding [GO:0051787]; protein binding involved in protein folding [GO:0044183]; protein domain specific binding [GO:0019904]; ribosome binding [GO:0043022]; ubiquitin protein ligase binding [GO:0031625]; unfolded protein binding [GO:0051082]; ATF6-mediated unfolded protein response [GO:0036500]; cellular response to antibiotic [GO:0071236]; cellular response to calcium ion [GO:0071277]; cellular response to cAMP [GO:0071320]; cellular response to drug [GO:0035690]; cellular response to gamma radiation [GO:0071480]; cellular response to glucose starvation [GO:0042149]; cellular response to heat [GO:0034605]; cellular response to interleukin-4 [GO:0071353]; cellular response to manganese ion [GO:0071287]; cellular response to nerve growth factor stimulus [GO:1990090]; cellular response to unfolded protein [GO:0034620]; cerebellar Purkinje cell layer development [GO:0021680]; cerebellum structural organization [GO:0021589]; chaperone cofactor-dependent protein refolding [GO:0051085]; endoplasmic reticulum unfolded protein response [GO:0030968]; ER overload response [GO:0006983]; IRE1-mediated unfolded protein response [GO:0036498]; luteolysis [GO:0001554]; maintenance of protein localization in endoplasmic reticulum [GO:0035437]; negative regulation of apoptotic process [GO:0043066]; negative regulation of IRE1-mediated unfolded protein response [GO:1903895]; negative regulation of protein homodimerization activity [GO:0090074]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; neuron apoptotic process [GO:0051402]; neuron differentiation [GO:0030182]; PERK-mediated unfolded protein response [GO:0036499]; positive regulation of cell migration [GO:0030335]; positive regulation of neuron projection development [GO:0010976]; positive regulation of protein ubiquitination [GO:0031398]; positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress [GO:1990440]; protein folding in endoplasmic reticulum [GO:0034975]; protein refolding [GO:0042026]; regulation of ATF6-mediated unfolded protein response [GO:1903891]; regulation of IRE1-mediated unfolded protein response [GO:1903894]; regulation of PERK-mediated unfolded protein response [GO:1903897]; regulation of protein folding in endoplasmic reticulum [GO:0060904]; response to cocaine [GO:0042220]; response to methamphetamine hydrochloride [GO:1904313]; response to unfolded protein [GO:0006986]; stress response to metal ion [GO:0097501]; substantia nigra development [GO:0021762]; toxin transport [GO:1901998]; ubiquitin-dependent ERAD pathway [GO:0030433]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000269|PubMed:21080038, ECO:0000269|PubMed:21289099, ECO:0000269|PubMed:23990668, ECO:0000269|PubMed:29497057}. Melanosome {ECO:0000269|PubMed:12643545}. Cytoplasm {ECO:0000250|UniProtKB:P20029}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO:0000269|PubMed:12643545}.


uniprotID: Q9NS75
geneSymbol: CYSLTR2
reactome: R-HSA-391906;R-HSA-416476;
length: 346
go: ENSG00000152207;
drug: DB00716;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Cysteinyl leukotriene receptor 2 (CysLTR2) (G-protein coupled receptor GPCR21) (hGPCR21) (G-protein coupled receptor HG57) (HPN321)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled peptide receptor activity [GO:0008528]; galanin receptor activity [GO:0004966]; leukotriene receptor activity [GO:0004974]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; neuropeptide signaling pathway [GO:0007218]


uniprotID: Q15846
geneSymbol: CLUL1
name: Clusterin-like protein 1 (Retinal-specific clusterin-like protein)
length: 466
go: ENSG00000079101;
opentargets: extracellular space [GO:0005615]; nucleus [GO:0005634]; misfolded protein binding [GO:0051787]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:


uniprotID: Q13075
geneSymbol: NAIP
pdb: 2VM5;
name: Baculoviral IAP repeat-containing protein 1 (Neuronal apoptosis inhibitory protein)
length: 1403
go: ENSG00000249437;
sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; cytoplasm [GO:0005737]; ATP binding [GO:0005524]; cysteine-type endopeptidase inhibitor activity involved in apoptotic process [GO:0043027]; metal ion binding [GO:0046872]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of neuron apoptotic process [GO:0043524]; nervous system development [GO:0007399]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13075-1; Sequence=Displayed; Name=2; IsoId=Q13075-2; Sequence=VSP_047196, VSP_047197; 


uniprotID: P10909
geneSymbol: CLU
reactome: R-HSA-114608;R-HSA-166665;R-HSA-6803157;R-HSA-977606;
length: 449
go: ENSG00000120885;
snps: rs9331936 rs9331938 rs13494
name:
Clusterin (Aging-associated gene 4 protein) (Apolipoprotein J) (Apo-J) (Complement cytolysis inhibitor) (CLI) (Complement-associated protein SP-40,40) (Ku70-binding protein 1) (NA1/NA2) (Testosterone-repressed prostate message 2) (TRPM-2) [Cleaved into: Clusterin beta chain (ApoJalpha) (Complement cytolysis inhibitor a chain); Clusterin alpha chain (ApoJbeta) (Complement cytolysis inhibitor b chain)]

sequence:

opentargets:
apical dendrite [GO:0097440]; blood microparticle [GO:0072562]; cell surface [GO:0009986]; chromaffin granule [GO:0042583]; collagen-containing extracellular matrix [GO:0062023]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; intracellular [GO:0005622]; mitochondrial membrane [GO:0031966]; mitochondrion [GO:0005739]; neurofibrillary tangle [GO:0097418]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; platelet alpha granule lumen [GO:0031093]; protein-containing complex [GO:0032991]; spherical high-density lipoprotein particle [GO:0034366]; synapse [GO:0045202]; amyloid-beta binding [GO:0001540]; chaperone binding [GO:0051087]; low-density lipoprotein particle receptor binding [GO:0050750]; misfolded protein binding [GO:0051787]; protein heterodimerization activity [GO:0046982]; protein-containing complex binding [GO:0044877]; tau protein binding [GO:0048156]; ubiquitin protein ligase binding [GO:0031625]; antimicrobial humoral response [GO:0019730]; cell morphogenesis [GO:0000902]; central nervous system myelin maintenance [GO:0032286]; chaperone-mediated protein complex assembly [GO:0051131]; chaperone-mediated protein folding [GO:0061077]; chaperone-mediated protein transport involved in chaperone-mediated autophagy [GO:0061741]; complement activation [GO:0006956]; complement activation, classical pathway [GO:0006958]; innate immune response [GO:0045087]; intrinsic apoptotic signaling pathway [GO:0097193]; lipid metabolic process [GO:0006629]; microglial cell activation [GO:0001774]; microglial cell proliferation [GO:0061518]; negative regulation of amyloid fibril formation [GO:1905907]; negative regulation of amyloid-beta formation [GO:1902430]; negative regulation of cell death [GO:0060548]; negative regulation of cellular response to thapsigargin [GO:1905892]; negative regulation of cellular response to tunicamycin [GO:1905895]; negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage [GO:1902230]; negative regulation of protein homooligomerization [GO:0032463]; negative regulation of release of cytochrome c from mitochondria [GO:0090201]; negative regulation of response to endoplasmic reticulum stress [GO:1903573]; platelet degranulation [GO:0002576]; positive regulation of amyloid fibril formation [GO:1905908]; positive regulation of amyloid-beta formation [GO:1902004]; positive regulation of apoptotic process [GO:0043065]; positive regulation of gene expression [GO:0010628]; positive regulation of intrinsic apoptotic signaling pathway [GO:2001244]; positive regulation of neurofibrillary tangle assembly [GO:1902998]; positive regulation of neuron death [GO:1901216]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of nitric oxide biosynthetic process [GO:0045429]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; positive regulation of protein homooligomerization [GO:0032464]; positive regulation of receptor-mediated endocytosis [GO:0048260]; positive regulation of tau-protein kinase activity [GO:1902949]; positive regulation of tumor necrosis factor production [GO:0032760]; positive regulation of ubiquitin-dependent protein catabolic process [GO:2000060]; protein import [GO:0017038]; protein stabilization [GO:0050821]; protein targeting to lysosome involved in chaperone-mediated autophagy [GO:0061740]; regulation of amyloid-beta clearance [GO:1900221]; regulation of complement activation [GO:0030449]; regulation of neuron death [GO:1901214]; regulation of neuronal signal transduction [GO:1902847]; release of cytochrome c from mitochondria [GO:0001836]; response to misfolded protein [GO:0051788]; response to virus [GO:0009615]; reverse cholesterol transport [GO:0043691]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=2, CLU35, sCLU; IsoId=P10909-1; Sequence=Displayed; Note=Major isoform.; Name=2; Synonyms=1, CLU34; IsoId=P10909-2; Sequence=VSP_037661; Name=3; IsoId=P10909-3; Sequence=VSP_041475; Name=4; Synonyms=nCLU; IsoId=P10909-4; Sequence=VSP_041476; Note=Minor isoform that has been detected in a breast cancer cell line, but not in any other tissues or cell lines.; Name=5; Synonyms=CLU36; IsoId=P10909-5; Sequence=VSP_041477; 

location:
SUBCELLULAR LOCATION: Isoform 1: Secreted. Note=Can retrotranslocate from the secretory compartments to the cytosol upon cellular stress.; SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Mitochondrion membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytosol. Microsome. Endoplasmic reticulum. Cytoplasmic vesicle, secretory vesicle, chromaffin granule {ECO:0000250}. Note=Isoforms lacking the N-terminal signal sequence have been shown to be cytoplasmic and/or nuclear. Secreted isoforms can retrotranslocate from the secretory compartments to the cytosol upon cellular stress. Detected in perinuclear foci that may be aggresomes containing misfolded, ubiquitinated proteins. Detected at the mitochondrion membrane upon induction of apoptosis.


uniprotID: O75153
geneSymbol: CLUH
name: Clustered mitochondria protein homolog
length: 1309
go: ENSG00000132361;
snps: rs11078312
sequence:

opentargets:
cytoplasm [GO:0005737]; mRNA binding [GO:0003729]; intracellular distribution of mitochondria [GO:0048312]; mitochondrion organization [GO:0007005]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03013}. Cytoplasmic granule {ECO:0000269|PubMed:25349259}. Note=A fraction colocalizes with tyrosinated tubulin and can be detected close to mitochondria. {ECO:0000269|PubMed:25349259}.


uniprotID: Q8TDH9
geneSymbol: BLOC1S5
length: 187
go: ENSG00000188428;
name:
Biogenesis of lysosome-related organelles complex 1 subunit 5 (BLOC-1 subunit 5) (Protein Muted homolog)

sequence:
MSGGGTETPVGCEAAPGGGSKKRDSLGTAGSAHLIIKDLGEIHSRLLDHRPVIQGETRYFVKEFEEKRGLREMRVLENLKNMIHETNEHTLPKCRDTMRDSLSQVLQRLQAANDSVCRLQQREQERKKIHSDHLVASEKQHMLQWDNFMKEQPNKRAEVDEEHRKAMERLKEQYAEMEKDLAKFSTF

opentargets:
axon cytoplasm [GO:1904115]; BLOC-1 complex [GO:0031083]; transport vesicle [GO:0030133]; anterograde axonal transport [GO:0008089]; anterograde synaptic vesicle transport [GO:0048490]; endosome to melanosome transport [GO:0035646]; melanosome organization [GO:0032438]; melanosome transport [GO:0032402]; neuron projection development [GO:0031175]; positive regulation of pigment cell differentiation [GO:0050942]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8TDH9-1; Sequence=Displayed; Name=2; IsoId=Q8TDH9-2; Sequence=VSP_015088, VSP_015089; Note=Gene prediction based on EST data. No experimental confirmation available.; Name=3; IsoId=Q8TDH9-3; Sequence=VSP_045013; Note=No experimental confirmation available.; 


uniprotID: Q8IUQ0
geneSymbol: CLVS1
reactome: R-HSA-432720;
length: 354
go: ENSG00000177182;
name:
Clavesin-1 (Cellular retinaldehyde-binding protein-like) (Retinaldehyde-binding protein 1-like 1) (clathrin vesicle-associated Sec14 protein 1)

sequence:

opentargets:
clathrin-coated vesicle [GO:0030136]; early endosome membrane [GO:0031901]; endosome [GO:0005768]; trans-Golgi network [GO:0005802]; trans-Golgi network membrane [GO:0032588]; phosphatidylinositol-3,5-bisphosphate binding [GO:0080025]; lysosome organization [GO:0007040]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IUQ0-1; Sequence=Displayed; Name=2; IsoId=Q8IUQ0-2; Sequence=VSP_027328, VSP_027329; Note=No experimental confirmation available. May be due to an intron retention.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cytoplasmic vesicle, clathrin-coated vesicle {ECO:0000250}. Early endosome membrane {ECO:0000269|PubMed:19651769}; Peripheral membrane protein {ECO:0000269|PubMed:19651769}.


uniprotID: Q9UL45
geneSymbol: BLOC1S6
reactome: R-HSA-432722;
length: 172
go: ENSG00000104164;
name:
Biogenesis of lysosome-related organelles complex 1 subunit 6 (BLOC-1 subunit 6) (Pallid protein homolog) (Pallidin) (Syntaxin 13-interacting protein)

sequence:
MSVPGPSSPDGALTRPPYCLEAGEPTPGLSDTSPDEGLIEDLTIEDKAVEQLAEGLLSHYLPDLQRSKQALQELTQNQVVLLDTLEQEISKFKECHSMLDINALFAEAKHYHAKLVNIRKEMLMLHEKTSKLKKRALKLQQKRQKEELEREQQREKEFEREKQLTARPAKRM

opentargets:
axon cytoplasm [GO:1904115]; BLOC-1 complex [GO:0031083]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extrinsic component of membrane [GO:0019898]; presynapse [GO:0098793]; transport vesicle [GO:0030133]; actin filament binding [GO:0051015]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; syntaxin binding [GO:0019905]; anterograde axonal transport [GO:0008089]; anterograde synaptic vesicle transport [GO:0048490]; endosome to melanosome transport [GO:0035646]; melanosome organization [GO:0032438]; melanosome transport [GO:0032402]; neuron projection development [GO:0031175]; positive regulation of pigment cell differentiation [GO:0050942]; synaptic vesicle docking [GO:0016081]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UL45-1; Sequence=Displayed; Name=2; IsoId=Q9UL45-2; Sequence=VSP_009293, VSP_009294; Note=May be due to a competing acceptor splice site.; Name=3; IsoId=Q9UL45-3; Sequence=Not described; Note=May be due to exons 2 and 3 skipping. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12019270, ECO:0000269|PubMed:12191018}. Membrane {ECO:0000269|PubMed:12019270, ECO:0000269|PubMed:12191018}; Peripheral membrane protein {ECO:0000269|PubMed:12019270}. Note=It can exist as a soluble protein as well as a peripheral membrane protein (PubMed:12019270). {ECO:0000269|PubMed:12019270}.


uniprotID: Q8N0X4
geneSymbol: CLYBL
pdb: 5VXC;5VXO;5VXS;
length: 340
go: ENSG00000125246;
snps: rs17577293 rs35680839 rs3783185 rs41281112
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250|UniProtKB:Q8R4N0}.
name:
Citramalyl-CoA lyase, mitochondrial (EC 4.1.3.25) (Beta-methylmalate synthase) (EC 2.3.3.-) (Citrate lyase subunit beta-like protein) (Citrate lyase beta-like) (Malate synthase) (EC 2.3.3.9)

sequence:

opentargets:
mitochondrion [GO:0005739]; (3S)-citramalyl-CoA lyase activity [GO:0047777]; magnesium ion binding [GO:0000287]; malate synthase activity [GO:0004474]; protein homotrimerization [GO:0070207]; regulation of cobalamin metabolic process [GO:0106064]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N0X4-1; Sequence=Displayed; Name=2; IsoId=Q8N0X4-2; Sequence=VSP_034643; Note=No experimental confirmation available.; 


uniprotID: Q8IVM7
geneSymbol: LINC00346
name: Putative uncharacterized protein encoded by LINC00346
length: 164
snps: rs9588286
sequence:
MRPQPRGGSGRKENTGEEREGRAERYHAISADGERRLQPGTAVLTRHVSFLFGGREAEEHVMETDRVEGARDGDKRKEVCFVPIQGSFCFMRLTCARLVAALDIHGLSFSLRFCGSRDTKHEDITGREGQVTPLPRGTPQLCTARVGLSSPRTRGQGVPISCKT


uniprotID: A0A1B0GVH6
geneSymbol: C13orf42
name: Uncharacterized protein C13orf42
length: 325
go: ENSG00000226792;
sequence:


uniprotID: A0A1B0GUA9
geneSymbol: C13orf46
name: Uncharacterized protein C13orf46
length: 212
go: ENSG00000283199;
sequence:


uniprotID: P62952
geneSymbol: BLCAP
name: Bladder cancer-associated protein (Bladder cancer 10 kDa protein) (Bc10)
sequence: MYCLQWLLPVLLIPKPLNPALWFSHSMFMGFYLLSFLLERKPCTICALVFLAALFLICYSCWGNCFLYHCSDSPLPESAHDPGVVGT
length: 87
go: ENSG00000166619;
snps: rs11557677 rs11557676
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
opentargets:
integral component of membrane [GO:0016021]; apoptotic nuclear changes [GO:0030262]; cell cycle [GO:0007049]


uniprotID: O95972
geneSymbol: BMP15
reactome: R-HSA-381426;R-HSA-8957275;
name: Bone morphogenetic protein 15 (BMP-15) (Growth/differentiation factor 9B) (GDF-9B)
length: 392
go: ENSG00000130385;
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; transforming growth factor beta receptor binding [GO:0005160]; BMP signaling pathway [GO:0030509]; cell development [GO:0048468]; cellular protein metabolic process [GO:0044267]; female gamete generation [GO:0007292]; granulosa cell development [GO:0060016]; ovarian follicle development [GO:0001541]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; positive regulation of transcription, DNA-templated [GO:0045893]; post-translational protein modification [GO:0043687]; regulation of apoptotic process [GO:0042981]; regulation of MAPK cascade [GO:0043408]; SMAD protein signal transduction [GO:0060395]

snps:
rs113099187 rs144392417 rs104894763 rs104894766 rs41308602 rs371418883 rs114823607 rs104894767 rs202165852 rs782516193 rs375284458 rs104894765 rs782379521 rs782375794 


uniprotID: P54132
geneSymbol: BLM
pdb: 2KV2;2MH9;2RRD;3WE2;3WE3;4CDG;4CGZ;4O3M;5LUP;5M1V;5MK5;5U6K;
name: Bloom syndrome protein (EC 3.6.4.12) (DNA helicase, RecQ-like type 2) (RecQ2) (RecQ protein-like 3)
length: 1417
go: ENSG00000197299;
reactome:
R-HSA-3108214;R-HSA-5685938;R-HSA-5685942;R-HSA-5693554;R-HSA-5693568;R-HSA-5693579;R-HSA-5693607;R-HSA-5693616;R-HSA-6804756;R-HSA-69473;R-HSA-912446;

sequence:

opentargets:
chromosome [GO:0005694]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; lateral element [GO:0000800]; nuclear chromosome [GO:0000228]; nuclear matrix [GO:0016363]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; pronucleus [GO:0045120]; replication fork [GO:0005657]; 8-hydroxy-2'-deoxyguanosine DNA binding [GO:1905773]; annealing helicase activity [GO:0036310]; ATP binding [GO:0005524]; ATP-dependent 3'-5' DNA helicase activity [GO:0043140]; ATP-dependent DNA helicase activity [GO:0004003]; ATP-dependent helicase activity [GO:0008026]; ATPase activity [GO:0016887]; bubble DNA binding [GO:0000405]; DNA binding [GO:0003677]; DNA helicase activity [GO:0003678]; DNA-dependent ATPase activity [GO:0008094]; forked DNA-dependent helicase activity [GO:0061749]; four-way junction DNA binding [GO:0000400]; four-way junction helicase activity [GO:0009378]; G-quadruplex DNA binding [GO:0051880]; helicase activity [GO:0004386]; p53 binding [GO:0002039]; protein homodimerization activity [GO:0042803]; single-stranded DNA binding [GO:0003697]; telomeric D-loop binding [GO:0061821]; telomeric G-quadruplex DNA binding [GO:0061849]; Y-form DNA binding [GO:0000403]; zinc ion binding [GO:0008270]; alpha-beta T cell differentiation [GO:0046632]; cellular response to camptothecin [GO:0072757]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to hydroxyurea [GO:0072711]; cellular response to ionizing radiation [GO:0071479]; DNA double-strand break processing [GO:0000729]; DNA duplex unwinding [GO:0032508]; DNA recombination [GO:0006310]; DNA repair [GO:0006281]; DNA replication [GO:0006260]; DNA synthesis involved in DNA repair [GO:0000731]; double-strand break repair via homologous recombination [GO:0000724]; double-strand break repair via nonhomologous end joining [GO:0006303]; double-strand break repair via synthesis-dependent strand annealing [GO:0045003]; G-quadruplex DNA unwinding [GO:0044806]; meiotic chromosome separation [GO:0051307]; meiotic DNA double-strand break processing involved in reciprocal meiotic recombination [GO:0010705]; mitotic G2 DNA damage checkpoint [GO:0007095]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell division [GO:0051782]; negative regulation of DNA recombination [GO:0045910]; negative regulation of double-strand break repair via single-strand annealing [GO:1901291]; negative regulation of mitotic recombination [GO:0045950]; negative regulation of thymocyte apoptotic process [GO:0070244]; positive regulation of alpha-beta T cell proliferation [GO:0046641]; positive regulation of double-strand break repair via homologous recombination [GO:1905168]; positive regulation of transcription, DNA-templated [GO:0045893]; protein complex oligomerization [GO:0051259]; protein homooligomerization [GO:0051260]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; regulation of DNA-dependent DNA replication [GO:0090329]; replication fork processing [GO:0031297]; replication fork protection [GO:0048478]; resolution of meiotic recombination intermediates [GO:0000712]; resolution of recombination intermediates [GO:0071139]; response to X-ray [GO:0010165]; strand displacement [GO:0000732]; t-circle formation [GO:0090656]; telomeric D-loop disassembly [GO:0061820]

snps:
rs28384988 rs28384991 rs28385012 rs747281324 rs767086502 rs137853152 rs2227935 rs758311406 rs137853153 rs2229035 rs367543029 rs28385141 rs1801256 rs28385142 rs7167216 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23509288}. Note=Together with SPIDR, is redistributed in discrete nuclear DNA damage-induced foci following hydroxyurea (HU) or camptothecin (CPT) treatment. Accumulated at sites of DNA damage in a RMI complex- and SPIDR-dependent manner.


uniprotID: Q8WV28
geneSymbol: BLNK
reactome: R-HSA-912631;R-HSA-983695;
length: 456
go: ENSG00000095585;
name:
B-cell linker protein (B-cell adapter containing a SH2 domain protein) (B-cell adapter containing a Src homology 2 domain protein) (Cytoplasmic adapter protein) (Src homology 2 domain-containing leukocyte protein of 65 kDa) (SLP-65)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic ribonucleoprotein granule [GO:0036464]; cytosol [GO:0005829]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; SH3/SH2 adaptor activity [GO:0005070]; transmembrane receptor protein tyrosine kinase adaptor activity [GO:0005068]; B cell differentiation [GO:0030183]; humoral immune response [GO:0006959]; inflammatory response [GO:0006954]; intracellular signal transduction [GO:0035556]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8WV28-1; Sequence=Displayed; Name=2; IsoId=Q8WV28-2; Sequence=VSP_016178; Name=3; IsoId=Q8WV28-3; Sequence=VSP_045324; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9697839}. Cell membrane {ECO:0000269|PubMed:9697839}. Note=BCR activation results in the translocation to membrane fraction.


uniprotID: Q8IY22
geneSymbol: CMIP
name: C-Maf-inducing protein (c-Mip) (Truncated c-Maf-inducing protein) (Tc-Mip)
length: 773
go: ENSG00000153815;
opentargets: cytosol [GO:0005829]; nucleoplasm [GO:0005654]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=C-Mip; IsoId=Q8IY22-1; Sequence=Displayed; Name=2; Synonyms=Tc-Mip; IsoId=Q8IY22-2; Sequence=VSP_031109, VSP_031110; Name=3; IsoId=Q8IY22-3; Sequence=VSP_031108, VSP_031111; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12939343}. Cytoplasm {ECO:0000269|PubMed:12939343}. Note=Isoform 2 is translocated to the nucleus and is specifically recruited during minimal change nephrotic syndrome (MCNS) (PubMed:12939343) (PubMed:15616553). Detected in nuclear and cytoplasmic compartments during MCNS relapse (PubMed:12939343) (PubMed:15616553). Expressed in cytoplasm only during MCNS remission and absent in normal patients (PubMed:12939343). {ECO:0000269|PubMed:12939343, ECO:0000269|PubMed:15616553}.


uniprotID: Q96LC9
geneSymbol: BMF
reactome: R-HSA-111453;R-HSA-139910;
name: Bcl-2-modifying factor
length: 184
go: ENSG00000104081;
sequence:
MEPSQCVEELEDDVFQPEDGEPVTQPGSLLSADLFAQSLLDCPLSRLQLFPLTHCCGPGLRPTSQEDKATQTLSPASPSQGVMLPCGVTEEPQRLFYGNAGYRLPLPASFPAVLPIGEQPPEGQWQHQAEVQIARKLQCIADQFHRLHVQQHQQNQNRVWWQILLFLHNLALNGEENRNGAGPR

opentargets:
acrosomal vesicle [GO:0001669]; cytosol [GO:0005829]; mitochondrial outer membrane [GO:0005741]; myosin complex [GO:0016459]; plasma membrane [GO:0005886]; anoikis [GO:0043276]; cellular response to UV [GO:0034644]; negative regulation of autophagy [GO:0010507]; positive regulation of apoptotic process [GO:0043065]; positive regulation of intrinsic apoptotic signaling pathway [GO:2001244]; positive regulation of protein homooligomerization [GO:0032464]; positive regulation of release of cytochrome c from mitochondria [GO:0090200]; protein insertion into mitochondrial membrane involved in apoptotic signaling pathway [GO:0001844]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=BMF-I; IsoId=Q96LC9-1; Sequence=Displayed; Name=2; Synonyms=BMF-II; IsoId=Q96LC9-2; Sequence=VSP_012292; Name=3; Synonyms=BMF-III; IsoId=Q96LC9-3; Sequence=VSP_012293, VSP_012294; 


uniprotID: Q12982
geneSymbol: BNIP2
reactome: R-HSA-375170;
name: BCL2/adenovirus E1B 19 kDa protein-interacting protein 2
length: 314
go: ENSG00000140299;
snps: rs6151509
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; nuclear envelope [GO:0005635]; perinuclear region of cytoplasm [GO:0048471]; calcium ion binding [GO:0005509]; exopolyphosphatase activity [GO:0004309]; GTPase activator activity [GO:0005096]; apoptotic process [GO:0006915]; negative regulation of apoptotic process [GO:0043066]; polyphosphate catabolic process [GO:0006798]; positive regulation of muscle cell differentiation [GO:0051149]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q12982-1; Sequence=Displayed; Name=2; IsoId=Q12982-2; Sequence=VSP_038964; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, perinuclear region. Note=Localizes to the nuclear envelope region and to other cytoplasmic structures.


uniprotID: P12644
geneSymbol: BMP4
reactome: R-HSA-2129379;R-HSA-381426;R-HSA-8957275;
name: Bone morphogenetic protein 4 (BMP-4) (Bone morphogenetic protein 2B) (BMP-2B)
length: 408
go: ENSG00000125378;
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; BMP receptor binding [GO:0070700]; chemoattractant activity [GO:0042056]; co-receptor binding [GO:0039706]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; heparin binding [GO:0008201]; transforming growth factor beta receptor binding [GO:0005160]; activation of MAPKK activity [GO:0000186]; anterior/posterior axis specification [GO:0009948]; aortic valve morphogenesis [GO:0003180]; blood vessel endothelial cell proliferation involved in sprouting angiogenesis [GO:0002043]; BMP signaling pathway [GO:0030509]; BMP signaling pathway involved in heart development [GO:0061312]; BMP signaling pathway involved in heart induction [GO:0003130]; BMP signaling pathway involved in nephric duct formation [GO:0071893]; BMP signaling pathway involved in renal system segmentation [GO:0061151]; BMP signaling pathway involved in ureter morphogenesis [GO:0061149]; branching involved in prostate gland morphogenesis [GO:0060442]; branching involved in ureteric bud morphogenesis [GO:0001658]; branching morphogenesis of an epithelial tube [GO:0048754]; bronchus development [GO:0060433]; bud dilation involved in lung branching [GO:0060503]; bud elongation involved in lung branching [GO:0060449]; cardiac muscle cell differentiation [GO:0055007]; cardiac septum development [GO:0003279]; cell development [GO:0048468]; cellular protein metabolic process [GO:0044267]; cellular response to BMP stimulus [GO:0071773]; chondrocyte differentiation [GO:0002062]; cloacal septation [GO:0060197]; common-partner SMAD protein phosphorylation [GO:0007182]; coronary vasculature development [GO:0060976]; cranial suture morphogenesis [GO:0060363]; deltoid tuberosity development [GO:0035993]; dorsal/ventral neural tube patterning [GO:0021904]; embryonic cranial skeleton morphogenesis [GO:0048701]; embryonic digit morphogenesis [GO:0042733]; embryonic hindlimb morphogenesis [GO:0035116]; embryonic skeletal joint morphogenesis [GO:0060272]; endocardial cushion development [GO:0003197]; endochondral ossification [GO:0001958]; endoderm development [GO:0007492]; epithelial cell proliferation involved in lung morphogenesis [GO:0060502]; epithelial tube branching involved in lung morphogenesis [GO:0060441]; epithelial-mesenchymal cell signaling [GO:0060684]; erythrocyte differentiation [GO:0030218]; germ cell development [GO:0007281]; glomerular capillary formation [GO:0072104]; glomerular visceral epithelial cell development [GO:0072015]; hematopoietic progenitor cell differentiation [GO:0002244]; inner ear receptor cell differentiation [GO:0060113]; intermediate mesodermal cell differentiation [GO:0048392]; kidney development [GO:0001822]; lens induction in camera-type eye [GO:0060235]; lung alveolus development [GO:0048286]; lung morphogenesis [GO:0060425]; lymphoid progenitor cell differentiation [GO:0002320]; macrophage differentiation [GO:0030225]; mammary gland formation [GO:0060592]; membranous septum morphogenesis [GO:0003149]; mesenchymal cell differentiation involved in kidney development [GO:0072161]; mesenchymal cell proliferation involved in ureter development [GO:0072198]; mesenchymal cell proliferation involved in ureteric bud development [GO:0072138]; mesenchymal to epithelial transition involved in metanephros morphogenesis [GO:0003337]; mesodermal cell fate determination [GO:0007500]; mesonephros development [GO:0001823]; metanephric collecting duct development [GO:0072205]; monocyte differentiation [GO:0030224]; negative regulation of apoptotic process [GO:0043066]; negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway [GO:0072097]; negative regulation of branching involved in ureteric bud morphogenesis [GO:0090191]; negative regulation of cell cycle [GO:0045786]; negative regulation of cell death [GO:0060548]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cell proliferation involved in heart morphogenesis [GO:2000137]; negative regulation of chondrocyte differentiation [GO:0032331]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of extrinsic apoptotic signaling pathway [GO:2001237]; negative regulation of gene expression [GO:0010629]; negative regulation of glomerular mesangial cell proliferation [GO:0072125]; negative regulation of glomerulus development [GO:0090194]; negative regulation of immature T cell proliferation in thymus [GO:0033088]; negative regulation of MAP kinase activity [GO:0043407]; negative regulation of mesenchymal cell proliferation involved in ureter development [GO:0072200]; negative regulation of metanephric comma-shaped body morphogenesis [GO:2000007]; negative regulation of metanephric S-shaped body morphogenesis [GO:2000005]; negative regulation of mitotic nuclear division [GO:0045839]; negative regulation of myoblast differentiation [GO:0045662]; negative regulation of phosphorylation [GO:0042326]; negative regulation of pri-miRNA transcription by RNA polymerase II [GO:1902894]; negative regulation of prostatic bud formation [GO:0060686]; negative regulation of striated muscle tissue development [GO:0045843]; negative regulation of T cell differentiation in thymus [GO:0033085]; negative regulation of thymocyte apoptotic process [GO:0070244]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; neural tube closure [GO:0001843]; neuron fate commitment [GO:0048663]; odontogenesis [GO:0042476]; odontogenesis of dentin-containing tooth [GO:0042475]; osteoblast differentiation [GO:0001649]; outflow tract septum morphogenesis [GO:0003148]; pharyngeal arch artery morphogenesis [GO:0061626]; pituitary gland development [GO:0021983]; positive regulation of apoptotic process [GO:0043065]; positive regulation of BMP signaling pathway [GO:0030513]; positive regulation of bone mineralization [GO:0030501]; positive regulation of branching involved in lung morphogenesis [GO:0061047]; positive regulation of cardiac muscle fiber development [GO:0055020]; positive regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis [GO:1905312]; positive regulation of cartilage development [GO:0061036]; positive regulation of cell death [GO:0010942]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cell proliferation involved in outflow tract morphogenesis [GO:1901964]; positive regulation of collagen biosynthetic process [GO:0032967]; positive regulation of endothelial cell differentiation [GO:0045603]; positive regulation of endothelial cell migration [GO:0010595]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of epidermal cell differentiation [GO:0045606]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of gene expression [GO:0010628]; positive regulation of kidney development [GO:0090184]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of ossification [GO:0045778]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; positive regulation of production of miRNAs involved in gene silencing by miRNA [GO:1903800]; positive regulation of protein binding [GO:0032092]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of SMAD protein signal transduction [GO:0060391]; positive regulation of smooth muscle cell proliferation [GO:0048661]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; post-embryonic development [GO:0009791]; post-translational protein modification [GO:0043687]; protein localization to nucleus [GO:0034504]; pulmonary artery endothelial tube morphogenesis [GO:0061155]; pulmonary valve morphogenesis [GO:0003184]; regulation of apoptotic process [GO:0042981]; regulation of branching involved in prostate gland morphogenesis [GO:0060687]; regulation of cell fate commitment [GO:0010453]; regulation of MAPK cascade [GO:0043408]; regulation of odontogenesis of dentin-containing tooth [GO:0042487]; regulation of pathway-restricted SMAD protein phosphorylation [GO:0060393]; regulation of protein import into nucleus [GO:0042306]; regulation of smooth muscle cell differentiation [GO:0051150]; renal system development [GO:0072001]; renal system process [GO:0003014]; secondary heart field specification [GO:0003139]; SMAD protein signal transduction [GO:0060395]; smooth muscle tissue development [GO:0048745]; smoothened signaling pathway [GO:0007224]; specification of animal organ position [GO:0010159]; specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway [GO:0072101]; steroid hormone mediated signaling pathway [GO:0043401]; telencephalon development [GO:0021537]; telencephalon regionalization [GO:0021978]; tendon cell differentiation [GO:0035990]; trachea development [GO:0060438]; trachea formation [GO:0060440]; type B pancreatic cell development [GO:0003323]; ureter epithelial cell differentiation [GO:0072192]; ureter smooth muscle cell differentiation [GO:0072193]; ureteric bud development [GO:0001657]

snps:
rs121912767 rs121912765 rs202159001 rs750427266 rs767216159 rs17563 rs770493925 rs144556455 rs140590144 rs121912768 rs121912766 rs1320581580 


uniprotID: O75936
geneSymbol: BBOX1
reactome: R-HSA-71262;
pdb: 3MS5;3N6W;3O2G;4BG1;4BGK;4BGM;4BHF;4BHG;4BHI;4C5W;4C8R;4CWD;
length: 387
go: ENSG00000129151;
drug: DB00139;DB00126;
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Gamma-butyrobetaine dioxygenase (EC 1.14.11.1) (Gamma-butyrobetaine hydroxylase) (Gamma-BBH) (Gamma-butyrobetaine,2-oxoglutarate dioxygenase)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; mitochondrion [GO:0005739]; gamma-butyrobetaine dioxygenase activity [GO:0008336]; identical protein binding [GO:0042802]; iron ion binding [GO:0005506]; oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen [GO:0016702]; zinc ion binding [GO:0008270]; carnitine biosynthetic process [GO:0045329]


uniprotID: Q7L3V2
geneSymbol: RTL10
name: Protein Bop (BH3-only protein) (Retrotransposon Gag-like protein 10)
length: 364
go: ENSG00000215012;
snps: rs17745302 rs34027839
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:23055042}.
sequence:

opentargets:
mitochondrion [GO:0005739]; mitochondrial outer membrane permeabilization [GO:0097345]; regulation of mitochondrial membrane potential [GO:0051881]


uniprotID: Q8NFQ5
geneSymbol: BPIFB6
reactome: R-HSA-6803157;
name: BPI fold-containing family B member 6 (Bactericidal/permeability-increasing protein-like 3)
length: 453
opentargets: extracellular region [GO:0005576]; lipid binding [GO:0008289]
snps: rs17301126 rs2070317 rs11907355 rs79809934 rs4911287
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:


uniprotID: Q8NFQ6
geneSymbol: BPIFC
length: 507
go: ENSG00000184459;
snps: rs2076051 rs5994570 rs5998478 rs35856742
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
name:
BPI fold-containing family C protein (Bactericidal/permeability-increasing protein-like 2) (BPI-like 2)

sequence:

opentargets:
extracellular space [GO:0005615]; lipopolysaccharide binding [GO:0001530]; phospholipid binding [GO:0005543]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NFQ6-1; Sequence=Displayed; Name=2; IsoId=Q8NFQ6-2; Sequence=VSP_056033, VSP_056034; Note=No experimental confirmation available.; 


uniprotID: Q9H3Q1
geneSymbol: CDC42EP4
name: Cdc42 effector protein 4 (Binder of Rho GTPases 4)
length: 356
go: ENSG00000179604;
location: SUBCELLULAR LOCATION: Endomembrane system; Peripheral membrane protein. Cytoplasm, cytoskeleton.
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cell-cell adherens junction [GO:0005913]; cytoplasm [GO:0005737]; endomembrane system [GO:0012505]; microtubule cytoskeleton [GO:0015630]; phagocytic vesicle [GO:0045335]; plasma membrane [GO:0005886]; GTP-Rho binding [GO:0017049]; RNA binding [GO:0003723]; cellular response to interferon-gamma [GO:0071346]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of pseudopodium assembly [GO:0031274]; regulation of cell shape [GO:0008360]; Rho protein signal transduction [GO:0007266]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H3Q1-1; Sequence=Displayed; Name=2; IsoId=Q9H3Q1-2; Sequence=VSP_055544; Note=No experimental confirmation available.; 


uniprotID: Q5EBM0
geneSymbol: CMPK2
name: UMP-CMP kinase 2, mitochondrial (EC 2.7.4.14) (Nucleoside-diphosphate kinase) (EC 2.7.4.6)
length: 449
go: ENSG00000134326;
snps: rs6712141
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:17999954}.
sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; cytidylate kinase activity [GO:0004127]; nucleoside diphosphate kinase activity [GO:0004550]; thymidylate kinase activity [GO:0004798]; UMP kinase activity [GO:0033862]; uridylate kinase activity [GO:0009041]; cellular response to lipopolysaccharide [GO:0071222]; dTDP biosynthetic process [GO:0006233]; dTTP biosynthetic process [GO:0006235]; dUDP biosynthetic process [GO:0006227]; nucleoside diphosphate phosphorylation [GO:0006165]; nucleoside triphosphate biosynthetic process [GO:0009142]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q5EBM0-1; Sequence=Displayed; Name=2; IsoId=Q5EBM0-2; Sequence=VSP_033238, VSP_033239; Note=No experimental confirmation available.; Name=3; IsoId=Q5EBM0-3; Sequence=VSP_033240; Note=No experimental confirmation available.; Name=4; IsoId=Q5EBM0-4; Sequence=VSP_033241; Note=No experimental confirmation available.; 


uniprotID: Q9H3K6
geneSymbol: BOLA2; BOLA2B
reactome: R-HSA-8950505;
name: BolA-like protein 2
sequence: MELSAEYLREKLQRDLEAEHVEVEDTTLNRCSCSFRVLVVSAKFEGKPLLQRHRLVNACLAEELPHIHAFEQKTLTPDQWARERQK
length: 86
opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; [2Fe-2S] cluster assembly [GO:0044571]; interleukin-12-mediated signaling pathway [GO:0035722]; protein maturation by iron-sulfur cluster transfer [GO:0097428]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H3K6-1; Sequence=Displayed; Name=2; IsoId=Q9H3K6-2; Sequence=VSP_010092, VSP_010093; 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.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22746225}. Nucleus {ECO:0000269|PubMed:22746225}.


uniprotID: P22003
geneSymbol: BMP5
name: Bone morphogenetic protein 5 (BMP-5)
length: 454
go: ENSG00000112175;
snps: rs9475437 rs35124644
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular space [GO:0005615]; vesicle [GO:0031982]; BMP receptor binding [GO:0070700]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; transforming growth factor beta receptor binding [GO:0005160]; allantois development [GO:1905069]; anterior head development [GO:0097065]; BMP signaling pathway [GO:0030509]; cardiac muscle tissue development [GO:0048738]; cardiac septum morphogenesis [GO:0060411]; cartilage development [GO:0051216]; cell development [GO:0048468]; chorio-allantoic fusion [GO:0060710]; ear development [GO:0043583]; endocardial cushion formation [GO:0003272]; heart trabecula morphogenesis [GO:0061384]; hindbrain development [GO:0030902]; male genitalia development [GO:0030539]; negative regulation of aldosterone biosynthetic process [GO:0032348]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cortisol biosynthetic process [GO:2000065]; negative regulation of epithelial to mesenchymal transition [GO:0010719]; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902042]; negative regulation of insulin-like growth factor receptor signaling pathway [GO:0043569]; negative regulation of mononuclear cell migration [GO:0071676]; negative regulation of steroid biosynthetic process [GO:0010894]; neural fold elevation formation [GO:0021502]; ossification [GO:0001503]; pattern specification process [GO:0007389]; pericardium morphogenesis [GO:0003344]; pharyngeal system development [GO:0060037]; positive regulation of cell proliferation [GO:0008284]; positive regulation of dendrite development [GO:1900006]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of apoptotic process [GO:0042981]; regulation of MAPK cascade [GO:0043408]; skeletal system development [GO:0001501]; SMAD protein signal transduction [GO:0060395]; type B pancreatic cell development [GO:0003323]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P22003-1; Sequence=Displayed; Name=2; IsoId=P22003-2; Sequence=VSP_056841; Note=No experimental confirmation available.; 


uniprotID: Q6PGQ7
geneSymbol: BORA
reactome: R-HSA-2565942;
name: Protein aurora borealis (HsBora)
length: 559
go: ENSG00000136122;
snps: rs9543107 rs1146858
sequence:

opentargets:
cytosol [GO:0005829]; protein kinase binding [GO:0019901]; cell division [GO:0051301]; G2/M transition of mitotic cell cycle [GO:0000086]; regulation of mitotic nuclear division [GO:0007088]; regulation of mitotic spindle organization [GO:0060236]; regulation of protein localization [GO:0032880]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6PGQ7-1; Sequence=Displayed; Name=2; IsoId=Q6PGQ7-2; Sequence=VSP_055543; Note=No experimental confirmation available.; 


uniprotID: Q96DR5
geneSymbol: BPIFA2
reactome: R-HSA-6803157;
length: 249
go: ENSG00000131050;
snps: rs6059139 rs17304572 rs6120140
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
name:
BPI fold-containing family A member 2 (Parotid secretory protein) (PSP) (Short palate, lung and nasal epithelium carcinoma-associated protein 2)

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; lipopolysaccharide binding [GO:0001530]; antimicrobial humoral response [GO:0019730]; defense response to bacterium [GO:0042742]


uniprotID: Q8N4F0
geneSymbol: BPIFB2
reactome: R-HSA-381426;R-HSA-6803157;R-HSA-8957275;
length: 458
go: ENSG00000078898;
snps: rs6088066 rs34128772
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
name:
BPI fold-containing family B member 2 (Bactericidal/permeability-increasing protein-like 1) (BPI-like 1) (Long palate, lung and nasal epithelium carcinoma-associated protein 2) (RYSR)

sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; lipid binding [GO:0008289]; antimicrobial humoral response [GO:0019730]; cellular protein metabolic process [GO:0044267]; post-translational protein modification [GO:0043687]


uniprotID: P50747
geneSymbol: HLCS
reactome: R-HSA-196780;R-HSA-3371599;
length: 726
go: ENSG00000159267;
drug: DB00121;
location: SUBCELLULAR LOCATION: Cytoplasm. Mitochondrion.
name:
Biotin--protein ligase (EC 6.3.4.-) (Biotin apo-protein ligase) [Includes: Biotin--[methylmalonyl-CoA-carboxytransferase] ligase (EC 6.3.4.9); Biotin--[propionyl-CoA-carboxylase [ATP-hydrolyzing]] ligase (EC 6.3.4.10) (Holocarboxylase synthetase) (HCS); Biotin--[methylcrotonoyl-CoA-carboxylase] ligase (EC 6.3.4.11); Biotin--[acetyl-CoA-carboxylase] ligase (EC 6.3.4.15)]

sequence:

opentargets:
chromatin [GO:0000785]; cytosol [GO:0005829]; mitochondrion [GO:0005739]; nuclear lamina [GO:0005652]; nuclear matrix [GO:0016363]; ATP binding [GO:0005524]; biotin binding [GO:0009374]; biotin-[acetyl-CoA-carboxylase] ligase activity [GO:0004077]; biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity [GO:0004078]; biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity [GO:0004079]; biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity [GO:0004080]; biotin-protein ligase activity [GO:0018271]; enzyme binding [GO:0019899]; protein homodimerization activity [GO:0042803]; biotin metabolic process [GO:0006768]; cell proliferation [GO:0008283]; histone biotinylation [GO:0071110]; histone modification [GO:0016570]; protein biotinylation [GO:0009305]; response to biotin [GO:0070781]

snps:
rs61732504 rs28934602 rs119103227 rs769499327 rs781603756 rs119103229 rs119103231 rs119103228 rs119103230 rs376899782 rs149399432 


uniprotID: P15056
geneSymbol: BRAF
length: 766
go: ENSG00000157764;
drug: DB08912;DB05238;DB08896;DB00398;DB08881;DB05190;
reactome:
R-HSA-1295596;R-HSA-170968;R-HSA-170984;R-HSA-187706;R-HSA-442742;R-HSA-5673000;R-HSA-5674135;R-HSA-5674499;R-HSA-5675221;R-HSA-6802946;R-HSA-6802948;R-HSA-6802949;R-HSA-6802952;R-HSA-6802955;

pdb:
1UWH;1UWJ;2FB8;2L05;3C4C;3D4Q;3IDP;3II5;3NY5;3OG7;3PPJ;3PPK;3PRF;3PRI;3PSB;3PSD;3Q4C;3Q96;3SKC;3TV4;3TV6;4CQE;4DBN;4E26;4E4X;4EHE;4EHG;4FC0;4FK3;4G9C;4G9R;4H58;4JVG;4KSP;4KSQ;4MBJ;4MNE;4MNF;4PP7;4R5Y;4RZV;4RZW;4WO5;4XV1;4XV2;4XV3;4XV9;4YHT;5C9C;5CSW;5CSX;5CT7;5FD2;5HI2;5HID;5HIE;5ITA;5J17;5J18;5J2R;5JRQ;5JSM;5JT2;5VAL;5VAM;5VR3;5VYK;6B8U;6CAD;

name:
Serine/threonine-protein kinase B-raf (EC 2.7.11.1) (Proto-oncogene B-Raf) (p94) (v-Raf murine sarcoma viral oncogene homolog B1)

sequence:

opentargets:
cell body [GO:0044297]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; mitochondrion [GO:0005739]; neuron projection [GO:0043005]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; calcium ion binding [GO:0005509]; identical protein binding [GO:0042802]; MAP kinase kinase kinase activity [GO:0004709]; mitogen-activated protein kinase kinase binding [GO:0031434]; protein heterodimerization activity [GO:0046982]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; animal organ morphogenesis [GO:0009887]; CD4-positive or CD8-positive, alpha-beta T cell lineage commitment [GO:0043369]; CD4-positive, alpha-beta T cell differentiation [GO:0043367]; cellular response to calcium ion [GO:0071277]; cellular response to drug [GO:0035690]; cellular response to nerve growth factor stimulus [GO:1990090]; establishment of protein localization to membrane [GO:0090150]; face development [GO:0060324]; head morphogenesis [GO:0060323]; long-term synaptic potentiation [GO:0060291]; MAPK cascade [GO:0000165]; myeloid progenitor cell differentiation [GO:0002318]; negative regulation of apoptotic process [GO:0043066]; negative regulation of endothelial cell apoptotic process [GO:2000352]; negative regulation of fibroblast migration [GO:0010764]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of synaptic vesicle exocytosis [GO:2000301]; positive regulation of axon regeneration [GO:0048680]; positive regulation of axonogenesis [GO:0050772]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of gene expression [GO:0010628]; positive regulation of glucose transmembrane transport [GO:0010828]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of stress fiber assembly [GO:0051496]; positive regulation of substrate adhesion-dependent cell spreading [GO:1900026]; protein heterooligomerization [GO:0051291]; protein phosphorylation [GO:0006468]; regulation of cell proliferation [GO:0042127]; regulation of T cell differentiation [GO:0045580]; response to cAMP [GO:0051591]; response to peptide hormone [GO:0043434]; somatic stem cell population maintenance [GO:0035019]; T cell receptor signaling pathway [GO:0050852]; thymus development [GO:0048538]; thyroid gland development [GO:0030878]; trehalose metabolism in response to stress [GO:0070413]; visual learning [GO:0008542]

snps:
rs387906660 rs387906661 rs387906660 rs397507465 rs397507466 rs180177034 rs180177035 rs397507470 rs34776339 rs180177032 rs180177033 rs121913348 rs121913348 rs121913351 rs121913351 rs121913351 rs869025606 rs397507473 rs121913355 rs121913355 rs121913357 rs121913355 rs180177036 rs180177037 rs397507476 rs180177039 rs180177038 rs869025340 rs606231228 rs180177040 rs121913370 rs121913340 rs121913338 rs121913341 rs121913361 rs397507483 rs121913366 rs121913369 rs121913375 rs121913377 rs113488022 rs121913364 rs121913364 rs180177042 rs397507486 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Cytoplasm. Cell membrane {ECO:0000250}. Note=Colocalizes with RGS14 and RAF1 in both the cytoplasm and membranes. {ECO:0000250}.


uniprotID: Q86TU6
geneSymbol: LINC00523
name: Putative uncharacterized protein encoded by LINC00523
length: 105
snps: rs8011237
sequence:
MGIGTGHTSMNKGGKDVTLLELSVEKRRWRINMETSKIILEKMQSDDVLDGNRERSNEREGRDSLSEKLKSKQNLKDEEKLRYIKTGKSIQVEGTVRAKALRWVQ


uniprotID: Q9NWQ9
geneSymbol: C14orf119
name: Uncharacterized protein C14orf119
length: 140
go: ENSG00000179933;
opentargets: cytosol [GO:0005829]; mitochondrion [GO:0005739]
snps: rs35065609
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:22361696}.
sequence:
MPLESSSSMPLSFPSLLPSVPHNTNPSPPLMSYITSQEMKCILHWFANWSGPQRERFLEDLVAKAVPEKLQPLLDSLEQLSVSGADRPPSIFECQLHLWDQWFRGWAEQERNEFVRQLEFSEPDFVAKFYQAVAATAGKD


uniprotID: Q86U02
geneSymbol: LINC00596
name: Putative uncharacterized protein encoded by LINC00596
length: 117
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MFTLLLSNYYSRLEGWMMDNNFSHHWKGMFPTETESTVFCLFVYLFIFVFETASGFVAQTGVHWCNLGSLQPLPPGFKRFSCLSLPSSLDYRHAPPCLANFYIFSGDRVSPCWPDWS


uniprotID: Q52M58
geneSymbol: C14orf177
name: Putative uncharacterized protein C14orf177
length: 125
go: ENSG00000176605;
snps: rs17097718 rs4905757
sequence:
MHRKEPGARLEATRGAARPHKQGTKPMITRPSVSQLGEGKCPSSQHLQSLRHNKQHALTLTKARCCGECSTCFCTEEKSECQRHEETSPGSCNHQIMSASTISAFCATPRFKQLFKGTVEQMSQM


uniprotID: Q8WY22
geneSymbol: BRI3BP
length: 251
go: ENSG00000184992;
name:
BRI3-binding protein (I3-binding protein) (Cervical cancer 1 proto-oncogene-binding protein KG19) (HCCRBP-1)

sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000305|PubMed:17943721}; Multi-pass membrane protein {ECO:0000305|PubMed:17943721}.


uniprotID: Q13956
geneSymbol: PDE6H
sequence: MSDNTTLPAPASNQGPTTPRKGPPKFKQRQTRQFKSKPPKKGVKGFGDDIPGMEGLGTDITVICPWEAFSHLELHELAQFGII
length: 83
go: ENSG00000139053;
drug: DB00203;DB00862;
name:
Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma (GMP-PDE gamma) (EC 3.1.4.35)

opentargets:
3',5'-cyclic-GMP phosphodiesterase activity [GO:0047555]; cGMP binding [GO:0030553]; enzyme inhibitor activity [GO:0004857]; activation of MAPK activity [GO:0000187]; positive regulation of epidermal growth factor receptor signaling pathway [GO:0045742]; positive regulation of G protein-coupled receptor signaling pathway [GO:0045745]; response to stimulus [GO:0050896]; visual perception [GO:0007601]


uniprotID: Q5PSV4
geneSymbol: BRMS1L
length: 323
go: ENSG00000100916;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Breast cancer metastasis-suppressor 1-like protein (BRMS1-homolog protein p40) (BRMS1-like protein p40)

sequence:

opentargets:
Sin3-type complex [GO:0070822]; histone deacetylase binding [GO:0042826]; histone deacetylation [GO:0016575]; negative regulation of transcription by RNA polymerase II [GO:0000122]; regulation of growth [GO:0040008]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5PSV4-1; Sequence=Displayed; Name=2; IsoId=Q5PSV4-2; Sequence=VSP_055547; Note=No experimental confirmation available.; 


uniprotID: Q15003
geneSymbol: NCAPH
reactome: R-HSA-2514853;
length: 741
go: ENSG00000121152;
snps: rs2305935
name:
Condensin complex subunit 2 (Barren homolog protein 1) (Chromosome-associated protein H) (hCAP-H) (Non-SMC condensin I complex subunit H) (XCAP-H homolog)

sequence:

opentargets:
condensin complex [GO:0000796]; cytosol [GO:0005829]; membrane [GO:0016020]; nuclear condensin complex [GO:0000799]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA topoisomerase (ATP-hydrolyzing) activator activity [GO:0072587]; DNA topoisomerase binding [GO:0044547]; cell division [GO:0051301]; female meiosis chromosome separation [GO:0051309]; meiotic chromosome condensation [GO:0010032]; mitotic chromosome condensation [GO:0007076]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15003-1; Sequence=Displayed; Name=2; IsoId=Q15003-2; Sequence=VSP_055179; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11694586}. Cytoplasm {ECO:0000269|PubMed:11694586}. Chromosome {ECO:0000269|PubMed:11694586}. Note=In interphase cells, the majority of the condensin complex is found in the cytoplasm, while a minority of the complex is associated with chromatin. A subpopulation of the complex however remains associated with chromosome foci in interphase cells. During mitosis, most of the condensin complex is associated with the chromatin. At the onset of prophase, the regulatory subunits of the complex are phosphorylated by CDK1, leading to condensin's association with chromosome arms and to chromosome condensation. Dissociation from chromosomes is observed in late telophase.


uniprotID: Q9BPX3
geneSymbol: NCAPG
reactome: R-HSA-2514853;
length: 1015
go: ENSG00000109805;
snps: rs35722563 rs3795243
name:
Condensin complex subunit 3 (Chromosome-associated protein G) (Condensin subunit CAP-G) (hCAP-G) (Melanoma antigen NY-MEL-3) (Non-SMC condensin I complex subunit G) (XCAP-G homolog)

sequence:

opentargets:
condensed chromosome [GO:0000793]; condensed chromosome, centromeric region [GO:0000779]; condensin complex [GO:0000796]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; nucleus [GO:0005634]; cell division [GO:0051301]; mitotic chromosome condensation [GO:0007076]

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Chromosome. Note=In interphase cells, the majority of the condensin complex is found in the cytoplasm, while a minority of the complex is associated with chromatin. A subpopulation of the complex however remains associated with chromosome foci in interphase cells. During mitosis, most of the condensin complex is associated with the chromatin. At the onset of prophase, the regulatory subunits of the complex are phosphorylated by CDK1, leading to condensin's association with chromosome arms and to chromosome condensation. Dissociation from chromosomes is observed in late telophase.


uniprotID: O95696
geneSymbol: BRD1
reactome: R-HSA-3214847;R-HSA-6804758;
length: 1058
go: ENSG00000100425;
snps: rs11549978 rs12157714 rs35331092
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21880731}.
pdb:
2KU3;2L43;2LQ6;3LYI;3RCW;4Z02;5AME;5AMF;5FG6;5GK9;5N49;5PNX;5PNY;5PNZ;5PO0;5PO1;5PO2;5PO3;5PO4;5PO5;5PO6;5PO7;5PO8;5PO9;5POA;5POB;5POC;5POD;5POE;5POF;5POG;5POH;5POI;5POJ;5POK;5POL;5POM;5PON;5POO;5POP;5POQ;5POR;5POS;5POT;5POU;5POV;5POW;5POX;5POY;5POZ;5PP0;5PP1;5PP2;5PP3;5PP4;5PP5;5PP6;5PP7;5PP8;5PP9;5PPA;5PPB;5PPC;5PPD;5PPE;5PPF;5PPG;5PPH;5PPI;5PPJ;5PPK;5PPL;5PPM;5PPN;5PPO;5PPP;5PPQ;5PPR;5PPS;5PPT;5PPU;5PPV;5PPW;5PPX;5PPY;5PPZ;5PQ0;5PQ1;5PQ2;5PQ3;5PQ4;5PQ5;5PQ6;5PQ7;5PQ8;5PQ9;5PQA;5PQB;5PQC;5PQD;5PQE;5PQF;5PQG;5PQH;5PQI;5PQJ;5PQK;5PQL;5PQM;5PQN;5PQO;5PQP;5PQQ;5PQR;5PQS;5PQT;5PQU;5PQV;5PQW;5PQX;5PQY;5PQZ;5PR0;5PR1;5PR2;5PR4;5PR5;5PR6;5PR7;5PR8;5PR9;5PRA;5PRB;5PRD;5PRE;5PRF;5PRG;5PRH;5PRI;5PRJ;5PRK;5PRL;5PRM;5PRO;5PRP;5PRQ;5PRR;5PRS;5PRT;5PRU;5PRV;5PRW;5PRX;5PRY;5PRZ;5PS0;5PS1;5PS2;5PS3;5PS4;5PS5;5PS6;5PS7;5PS8;5PS9;5PSA;5PSB;5PSC;5PSD;5PSE;5PSF;5PSG;5PSH;5PSI;5PSJ;5PSK;5PSL;5PSM;5PSN;5PSO;5PSP;5PSQ;5PSR;5PSS;5PST;5PSU;5PSV;5PSW;5PSX;5PSY;5PSZ;5PT0;5PT1;5PT2;5PT3;5PT4;5PT5;5PT6;5PT7;5PT8;5PT9;5PTA;5PTB;5PTC;5PTE;5PTF;5PTG;5PTH;5PTJ;5PTK;5PTL;5PTM;5PTN;5PTO;5PTQ;5PTR;5PTS;5PTT;5PTU;5PTV;5PTW;5PTX;5PTY;5PTZ;5PU0;5PU1;5PU2;5PU3;5PU4;5PU5;5PU6;5PU7;5PU8;5PU9;5PUA;5PUB;5PUC;5PUD;5PUE;5PUF;5PUG;5PUH;5PUI;5PUJ;5PUK;5PUL;5PUM;5PUN;5PUO;5PUP;5PUQ;5PUR;5PUS;5PUT;5PUU;5PUV;5PUW;5PUX;5PUY;5PUZ;5PV0;5PV1;5PV2;5PV3;5PV4;5PV5;5PV6;5PV7;5PV8;5PV9;5PVA;5PVB;5PVC;5PVD;5PVE;5PVF;5PVG;5PVH;5PVI;5PVJ;5PVK;5PVL;5PVM;5PVN;5PVO;5PVP;5PVQ;5PVR;5PVS;5PVT;5PVU;5PVV;5PVW;5PVX;5PVY;5PVZ;5PW0;5PW1;5PW2;5PW3;5PW4;5PW5;5PW6;5PW7;5PW8;5PW9;5PWA;5PWB;

name:
Bromodomain-containing protein 1 (BR140-like protein) (Bromodomain and PHD finger-containing protein 2)

sequence:

opentargets:
dendrite [GO:0030425]; MOZ/MORF histone acetyltransferase complex [GO:0070776]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; perikaryon [GO:0043204]; histone binding [GO:0042393]; metal ion binding [GO:0046872]; histone H3 acetylation [GO:0043966]; response to electrical stimulus [GO:0051602]; response to immobilization stress [GO:0035902]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95696-1; Sequence=Displayed; Name=2; IsoId=O95696-2; Sequence=VSP_040262; 


uniprotID: Q76B58
geneSymbol: BRINP3
name: BMP/retinoic acid-inducible neural-specific protein 3 (DBCCR1-like protein 1)
length: 766
go: ENSG00000162670;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}. Mitochondrion {ECO:0000250}.
sequence:

opentargets:
dendrite [GO:0030425]; endoplasmic reticulum [GO:0005783]; extracellular region [GO:0005576]; mitochondrion [GO:0005739]; neuronal cell body [GO:0043025]; cell cycle arrest [GO:0007050]; cellular response to retinoic acid [GO:0071300]; negative regulation of mitotic cell cycle [GO:0045930]; positive regulation of neuron differentiation [GO:0045666]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q76B58-1; Sequence=Displayed; Name=2; IsoId=Q76B58-2; Sequence=VSP_055545, VSP_055546; Note=No experimental confirmation available.; 


uniprotID: O60885
geneSymbol: BRD4
name: Bromodomain-containing protein 4 (Protein HUNK1)
length: 1362
go: ENSG00000141867;
snps: rs35177876 rs55805532 rs55970906 rs34362023 rs35824241 rs35676845
pdb:
2I8N;2LSP;2MJV;2N3K;2NCZ;2ND0;2ND1;2NNU;2OSS;2OUO;2YEL;2YEM;3MXF;3P5O;3SVF;3SVG;3U5J;3U5K;3U5L;3UVW;3UVX;3UVY;3UW9;3ZYU;4A9L;4BJX;4BW1;4BW2;4BW3;4BW4;4C66;4C67;4CFK;4CFL;4CL9;4CLB;4DON;4E96;4F3I;4GPJ;4HBV;4HBW;4HBX;4HBY;4HXK;4HXL;4HXM;4HXN;4HXO;4HXP;4HXR;4HXS;4IOO;4IOQ;4IOR;4J0R;4J0S;4J3I;4KV1;4KV4;4LR6;4LRG;4LYI;4LYS;4LYW;4LZR;4LZS;4MEN;4MEO;4MEP;4MEQ;4MR3;4MR4;4NQM;4NR8;4NUC;4NUD;4NUE;4O70;4O71;4O72;4O74;4O75;4O76;4O77;4O78;4O7A;4O7B;4O7C;4O7E;4O7F;4OGI;4OGJ;4PCE;4PCI;4PS5;4QB3;4QR3;4QR4;4QR5;4QZS;4UIX;4UIY;4UIZ;4UYD;4WHW;4WIV;4X2I;4XY9;4XYA;4YH3;4YH4;4Z1Q;4Z1S;4Z93;4ZC9;4ZW1;5A5S;5A85;5ACY;5AD2;5AD3;5BT4;5CFW;5COI;5CP5;5CPE;5CQT;5CRM;5CRZ;5CS8;5CTL;5CY9;5D0C;5D24;5D25;5D26;5D3H;5D3J;5D3L;5D3N;5D3P;5D3R;5D3S;5D3T;5DLX;5DLZ;5DW2;5DX4;5E0R;5EGU;5EI4;5EIS;5F5Z;5F60;5F61;5F62;5F63;5FBX;5H21;5HCL;5HLS;5HM0;5HQ5;5HQ6;5HQ7;5I80;5I88;5IGK;5JWM;5KDH;5KHM;5KJ0;5KU3;5LJ1;5LJ2;5LRQ;5LUU;5M39;5M3A;5MKZ;5MLI;5N2M;5NNC;5NND;5NNE;5NNF;5NNG;5O97;5T35;5TI2;5TI3;5TI4;5TI5;5TI6;5TI7;5U28;5U2C;5U2E;5U2F;5UEO;5UEP;5UEQ;5UER;5UES;5UET;5UEU;5UEV;5UEX;5UEY;5UEZ;5UF0;5ULA;5UOO;5UVS;5UVT;5UVU;5UVV;5UVW;5UVX;5UVY;5UVZ;5V67;5VBO;5VBP;5VOM;5VZS;5W55;5WA5;5WMA;5WMD;5WMG;5WUU;5XHY;5XI2;5XI3;5XI4;5Y1Y;5Y8C;5Y8W;5Y8Y;5Y8Z;5Y93;5Y94;5Z9C;6BN7;6BN8;6BN9;6BNB;6BNH;6BOY;6C7Q;6C7R;6CD4;6CIS;6CIY;6CJ1;6CKR;6CKS;6CZU;6CZV;6DJC;6DNE;6E4A;6FNX;6FO5;6FSY;6FT3;6FT4;6HDQ;

sequence:

opentargets:
chromosome [GO:0005694]; condensed nuclear chromosome [GO:0000794]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; enzyme binding [GO:0019899]; lysine-acetylated histone binding [GO:0070577]; p53 binding [GO:0002039]; RNA polymerase II C-terminal domain binding [GO:0099122]; RNA polymerase II CTD heptapeptide repeat kinase activity [GO:0008353]; cellular response to DNA damage stimulus [GO:0006974]; chromatin organization [GO:0006325]; chromatin remodeling [GO:0006338]; negative regulation of DNA damage checkpoint [GO:2000002]; positive regulation of G2/M transition of mitotic cell cycle [GO:0010971]; positive regulation of histone H3-K36 trimethylation [GO:2001255]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription elongation from RNA polymerase II promoter [GO:0032968]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of inflammatory response [GO:0050727]; regulation of phosphorylation of RNA polymerase II C-terminal domain [GO:1901407]; regulation of transcription involved in G1/S transition of mitotic cell cycle [GO:0000083]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=A; Synonyms=Brd4L, Long; IsoId=O60885-1; Sequence=Displayed; Name=C; Synonyms=Brd4S, Short; IsoId=O60885-2; Sequence=VSP_010902, VSP_010903; Name=B; IsoId=O60885-3; Sequence=VSP_047671; Note=Does not contain the C-terminal (CTD) region required to recruit the P-TEFb complex.; 

location:
SUBCELLULAR LOCATION: Nucleus. Chromosome. Note=Associates with acetylated chromatin. Released from chromatin upon deacetylation of histones that can be triggered by different signals such as activation of the JNK pathway or nocodazole treatment.


uniprotID: Q9NPI1
geneSymbol: BRD7
reactome: R-HSA-6804758;
pdb: 2I7K;5MQ1;
name: Bromodomain-containing protein 7 (75 kDa bromodomain protein) (Protein CELTIX-1)
length: 651
go: ENSG00000166164;
location: SUBCELLULAR LOCATION: Isoform 2: Nucleus.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; histone binding [GO:0042393]; lysine-acetylated histone binding [GO:0070577]; p53 binding [GO:0002039]; transcription coactivator activity [GO:0003713]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; cell cycle [GO:0007049]; negative regulation of cell proliferation [GO:0008285]; negative regulation of G1/S transition of mitotic cell cycle [GO:2000134]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of histone acetylation [GO:0035066]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of signal transduction by p53 class mediator [GO:1901796]; regulation of transcription by RNA polymerase II [GO:0006357]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NPI1-1; Sequence=Displayed; Name=2; IsoId=Q9NPI1-2; Sequence=VSP_017564; 


uniprotID: Q9NSI6
geneSymbol: BRWD1
reactome: R-HSA-1266695;R-HSA-3247509;
pdb: 3Q2E;
name: Bromodomain and WD repeat-containing protein 1 (WD repeat-containing protein 9)
length: 2320
go: ENSG00000185658;
snps: rs2056844 rs2183573 rs1041439 rs2234548
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus {ECO:0000250}.
sequence:

opentargets:
cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin organization [GO:0006325]; cytoskeleton organization [GO:0007010]; interleukin-7-mediated signaling pathway [GO:0038111]; regulation of cell shape [GO:0008360]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=A; IsoId=Q9NSI6-1; Sequence=Displayed; Name=B; IsoId=Q9NSI6-2; Sequence=VSP_018526; Name=C; IsoId=Q9NSI6-3; Sequence=VSP_018527, VSP_018528; Name=D; IsoId=Q9NSI6-4; Sequence=VSP_044245, VSP_044246; 


uniprotID: Q9ULD4
geneSymbol: BRPF3
reactome: R-HSA-114608;R-HSA-3214847;R-HSA-6804758;
pdb: 3PFS;
name: Bromodomain and PHD finger-containing protein 3
length: 1205
go: ENSG00000096070;
snps: rs45504893 rs17658935
sequence:

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; MOZ/MORF histone acetyltransferase complex [GO:0070776]; metal ion binding [GO:0046872]; histone H3 acetylation [GO:0043966]; platelet degranulation [GO:0002576]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9ULD4-1; Sequence=Displayed; Name=2; IsoId=Q9ULD4-2; Sequence=VSP_055549; Note=No experimental confirmation available.; Name=3; IsoId=Q9ULD4-3; Sequence=VSP_055549, VSP_055550; Note=No experimental confirmation available.; 


uniprotID: P18545
geneSymbol: PDE6G
reactome: R-HSA-2485179;R-HSA-2514859;R-HSA-4086398;
pdb: 3JWR;
sequence: MNLEPPKAEFRSATRVAGGPVTPRKGPPKFKQRQTRQFKSKPPKKGVQGFGDDIPGMEGLGTDITVICPWEAFNHLELHELAQYGII
length: 87
go: ENSG00000185527;
drug: DB07954;DB00203;DB00862;
name:
Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma (GMP-PDE gamma) (EC 3.1.4.35)

opentargets:
photoreceptor disc membrane [GO:0097381]; plasma membrane [GO:0005886]; 3',5'-cyclic-GMP phosphodiesterase activity [GO:0047555]; cGMP binding [GO:0030553]; enzyme inhibitor activity [GO:0004857]; spectrin binding [GO:0030507]; activation of MAPK activity [GO:0000187]; positive regulation of epidermal growth factor receptor signaling pathway [GO:0045742]; positive regulation of G protein-coupled receptor signaling pathway [GO:0045745]; regulation of rhodopsin mediated signaling pathway [GO:0022400]; response to stimulus [GO:0050896]; visual perception [GO:0007601]


uniprotID: P32247
geneSymbol: BRS3
reactome: R-HSA-375276;R-HSA-416476;
name: Bombesin receptor subtype-3 (BRS-3)
length: 399
go: ENSG00000102239;
snps: rs5232 rs5234
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; bombesin receptor activity [GO:0004946]; G protein-coupled receptor activity [GO:0004930]; adult feeding behavior [GO:0008343]; G protein-coupled receptor signaling pathway [GO:0007186]; glucose metabolic process [GO:0006006]; regulation of blood pressure [GO:0008217]


uniprotID: Q8TDC3
geneSymbol: BRSK1
length: 778
go: ENSG00000160469;
snps: rs144130246 rs55892637 rs12978445 rs55796422
name:
Serine/threonine-protein kinase BRSK1 (EC 2.7.11.1) (Brain-selective kinase 1) (EC 2.7.11.26) (Brain-specific serine/threonine-protein kinase 1) (BR serine/threonine-protein kinase 1) (Serine/threonine-protein kinase SAD-B) (Synapses of Amphids Defective homolog 1) (SAD1 homolog) (hSAD1)

sequence:

opentargets:
cell junction [GO:0030054]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; distal axon [GO:0150034]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; presynaptic active zone [GO:0048786]; synaptic vesicle [GO:0008021]; ATP binding [GO:0005524]; gamma-tubulin binding [GO:0043015]; magnesium ion binding [GO:0000287]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activity [GO:0004674]; tau-protein kinase activity [GO:0050321]; associative learning [GO:0008306]; axonogenesis [GO:0007409]; cellular response to DNA damage stimulus [GO:0006974]; centrosome duplication [GO:0051298]; establishment of cell polarity [GO:0030010]; intracellular signal transduction [GO:0035556]; microtubule cytoskeleton organization involved in establishment of planar polarity [GO:0090176]; mitotic G2 DNA damage checkpoint [GO:0007095]; neuron differentiation [GO:0030182]; neurotransmitter secretion [GO:0007269]; protein phosphorylation [GO:0006468]; regulation of axonogenesis [GO:0050770]; regulation of neuron projection development [GO:0010975]; regulation of synaptic plasticity [GO:0048167]; regulation of synaptic vesicle clustering [GO:2000807]; response to UV [GO:0009411]; synaptic vesicle cycle [GO:0099504]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=SADB-Long, L; IsoId=Q8TDC3-1; Sequence=Displayed; Name=2; IsoId=Q8TDC3-2; Sequence=VSP_008158; Name=3; Synonyms=SADB-short, S; IsoId=Q8TDC3-3; Sequence=VSP_041742; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15150265}. Nucleus {ECO:0000269|PubMed:15150265}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Note=Localizes to synaptic vesicles in neurons (By similarity). Nuclear in the absence of DNA damage. Translocated to the nucleus in response to UV- or MMS-induced DNA damage. {ECO:0000250}.


uniprotID: Q8N815
geneSymbol: CNTD1
name: Cyclin N-terminal domain-containing protein 1
length: 330
go: ENSG00000176563;
opentargets: reciprocal meiotic recombination [GO:0007131]; spermatogenesis [GO:0007283]
snps: rs12947820
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N815-1; Sequence=Displayed; Name=2; IsoId=Q8N815-2; Sequence=VSP_030111; Note=No experimental confirmation available.; 


uniprotID: Q9H8S5
geneSymbol: CNTD2
name: Cyclin N-terminal domain-containing protein 2
length: 307
go: ENSG00000105219;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H8S5-1; Sequence=Displayed; Name=2; IsoId=Q9H8S5-2; Sequence=VSP_044165, VSP_044166, VSP_044167; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q9NXG0
geneSymbol: CNTLN
name: Centlein (Centrosomal protein)
length: 1405
go: ENSG00000044459;
snps: rs3808795 rs3808794 rs3808782 rs7035276 rs2499057
sequence:

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; protein binding, bridging [GO:0030674]; protein domain specific binding [GO:0019904]; protein kinase binding [GO:0019901]; centriole-centriole cohesion [GO:0010457]; protein localization to organelle [GO:0033365]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NXG0-1; Sequence=Displayed; Note=No experimental confirmation available. {ECO:0000305}; Name=2; IsoId=Q9NXG0-2; Sequence=VSP_017558; Name=3; IsoId=Q9NXG0-3; Sequence=VSP_032864, VSP_032865; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:24554434}. Note=Colocalizes with gamma-tubulin during interphase and mitosis. Appears to associate with the mother centriole during G1 phase and with daughter centrioles towards G1/S phase (By similarity). Localizes to the proximal ends of the centrioles (PubMed:24554434). Levels are high at interphase centrosomes but are reduced on mitotic spindle poles (PubMed:24554434). {ECO:0000250|UniProtKB:A9ZSY0, ECO:0000269|PubMed:24554434}.


uniprotID: Q9P232
geneSymbol: CNTN3
reactome: R-HSA-163125;
pdb: 1WJ3;
length: 1028
go: ENSG00000113805;
snps: rs626578 rs626578
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Lipid-anchor, GPI-anchor {ECO:0000250}.
name:
Contactin-3 (Brain-derived immunoglobulin superfamily protein 1) (BIG-1) (Plasmacytoma-associated neuronal glycoprotein)

sequence:

opentargets:
anchored component of membrane [GO:0031225]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]; cell adhesion [GO:0007155]; nervous system development [GO:0007399]


uniprotID: Q9GZN4
geneSymbol: PRSS22
length: 317
go: ENSG00000005001;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:11602603}.
name:
Brain-specific serine protease 4 (BSSP-4) (EC 3.4.21.-) (Serine protease 22) (Serine protease 26) (Tryptase epsilon)

sequence:

opentargets:
anchored component of plasma membrane [GO:0046658]; extracellular region [GO:0005576]; extrinsic component of plasma membrane [GO:0019897]; serine-type endopeptidase activity [GO:0004252]


uniprotID: Q9UHC6
geneSymbol: CNTNAP2
pdb: 5Y4M;
name: Contactin-associated protein-like 2 (Cell recognition molecule Caspr2)
length: 1331
go: ENSG00000174469;
sequence:

opentargets:
axolemma [GO:0030673]; axon [GO:0030424]; cell surface [GO:0009986]; dendrite [GO:0030425]; early endosome [GO:0005769]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; juxtaparanode region of axon [GO:0044224]; membrane [GO:0016020]; neuronal cell body [GO:0043025]; paranodal junction [GO:0033010]; perikaryon [GO:0043204]; voltage-gated potassium channel complex [GO:0008076]; enzyme binding [GO:0019899]; adult behavior [GO:0030534]; brain development [GO:0007420]; cell adhesion [GO:0007155]; cerebral cortex development [GO:0021987]; clustering of voltage-gated potassium channels [GO:0045163]; learning [GO:0007612]; limbic system development [GO:0021761]; neuron projection development [GO:0031175]; neuron projection morphogenesis [GO:0048812]; neuron recognition [GO:0008038]; protein localization to juxtaparanode region of axon [GO:0071205]; social behavior [GO:0035176]; striatum development [GO:0021756]; superior temporal gyrus development [GO:0071109]; thalamus development [GO:0021794]; transmission of nerve impulse [GO:0019226]; vocal learning [GO:0042297]; vocalization behavior [GO:0071625]

snps:
rs189731792 rs771028883 rs372345438 rs794727802 rs371839994 rs143877693 rs772179690 rs368905425 rs764412489 rs760930032 rs369867547 rs200413148 rs121908445 rs759801195 rs144003410 rs111599875 rs983036503 rs774709566 rs781236853 rs761684414 rs767821521 rs760047247 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UHC6-1; Sequence=Displayed; Name=2; IsoId=Q9UHC6-2; Sequence=VSP_014976; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:Q9CPW0}; Single-pass type I membrane protein {ECO:0000305}. Cell projection, axon {ECO:0000250|UniProtKB:Q9CPW0}. Cell junction, paranodal septate junction {ECO:0000250|UniProtKB:Q9CPW0}. Note=Expressed in the juxtaparadonal region. {ECO:0000250|UniProtKB:Q9CPW0}.


uniprotID: Q9BZ76
geneSymbol: CNTNAP3
name: Contactin-associated protein-like 3 (Cell recognition molecule Caspr3)
length: 1288
go: ENSG00000106714;
snps: rs1758272 rs7852039
sequence:

opentargets:
extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; cell adhesion [GO:0007155]; cell recognition [GO:0008037]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BZ76-1; Sequence=Displayed; Name=2; IsoId=Q9BZ76-2; Sequence=VSP_003535, VSP_003536; Note=No experimental confirmation available.; 


uniprotID: Q8WYK1
geneSymbol: CNTNAP5
name: Contactin-associated protein-like 5 (Cell recognition molecule Caspr5)
length: 1306
go: ENSG00000155052;
opentargets: integral component of membrane [GO:0016021]; cell adhesion [GO:0007155]
snps: rs17727261 rs34165507
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:


uniprotID: Q32M92
geneSymbol: C15orf32
name: Uncharacterized protein C15orf32
length: 178
snps: rs1455773
sequence:
MNKRTSVDASKEDLHPADPQSGEGVPPNRKNTKTSPRGEGTAPPFSARPCVWTLCEMLSILALVGVLHPFYRSNNQVYQKLKTHLRCQSSRVDGLMLKPTLLTPSQLKSPEGHLILPTFNHLVIRHILDPKQIFCVADVCTDCKFNCGSIERHQKRHLMRVSQDWEHLIRYRNQICLS

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q32M92-1; Sequence=Displayed; Name=2; IsoId=Q32M92-2; Sequence=VSP_019516; Note=No experimental confirmation available.; 


uniprotID: Q6ZRI6
geneSymbol: C15orf39
name: Uncharacterized protein C15orf39
length: 1047
go: ENSG00000167173;
opentargets: cytosol [GO:0005829]
snps: rs1873379 rs11072532 rs28509789 rs3743211
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6ZRI6-1; Sequence=Displayed; Name=2; IsoId=Q6ZRI6-2; Sequence=VSP_019540, VSP_019541; Note=No experimental confirmation available.; Name=3; IsoId=Q6ZRI6-3; Sequence=VSP_019538, VSP_019539; 


uniprotID: Q8WUR7
geneSymbol: C15orf40
name: UPF0235 protein C15orf40
length: 153
go: ENSG00000169609;
snps: rs376937425
sequence:
MLRLRSGLRHLRATPNTRGSARLLCAEMPKKAGATTKGKSQSKEPERPLPPLGPVAVDPKGCVTIAIHAKPGSKQNAVTDLTAEAVNVAIAAPPSEGEANAELCRYLSKVLELRKSDVVLDKGGKSREKVVKLLASTTPEEILEKLKKEAKKT

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8WUR7-1; Sequence=Displayed; Name=2; IsoId=Q8WUR7-2; Sequence=VSP_046500; Name=3; IsoId=Q8WUR7-3; Sequence=VSP_046501; 


uniprotID: Q10589
geneSymbol: BST2
reactome: R-HSA-6798695;R-HSA-909733;
pdb: 2LK9;2X7A;2XG7;3MQ7;3MQ9;3MQB;3MQC;3NWH;4P6Z;6CM9;6CRI;6D83;6D84;6DFF;
name: Bone marrow stromal antigen 2 (BST-2) (HM1.24 antigen) (Tetherin) (CD antigen CD317)
length: 180
go: ENSG00000130303;
snps: rs1804402
sequence:
MASTSYDYCRVPMEDGDKRCKLLLGIGILVLLIIVILGVPLIIFTIKANSEACRDGLRAVMECRNVTHLLQQELTEAQKGFQDVEAQAATCNHTVMALMASLDAEKAQGQKKVEELEGEITTLNHKLQDASAEVERLRRENQVLSVRIADKKYYPSSQDSSSAAAPQLLIVLLGLSALLQ

opentargets:
anchored component of membrane [GO:0031225]; apical plasma membrane [GO:0016324]; azurophil granule membrane [GO:0035577]; cell surface [GO:0009986]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; membrane raft [GO:0045121]; multivesicular body [GO:0005771]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; metalloendopeptidase inhibitor activity [GO:0008191]; protein homodimerization activity [GO:0042803]; RNA binding [GO:0003723]; B cell activation [GO:0042113]; cell proliferation [GO:0008283]; cell-cell signaling [GO:0007267]; defense response to virus [GO:0051607]; humoral immune response [GO:0006959]; innate immune response [GO:0045087]; multicellular organism development [GO:0007275]; negative regulation of cell growth [GO:0030308]; negative regulation of cell migration [GO:0030336]; negative regulation of intracellular transport of viral material [GO:1901253]; negative regulation of plasmacytoid dendritic cell cytokine production [GO:0002737]; negative regulation of viral genome replication [GO:0045071]; neutrophil degranulation [GO:0043312]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; regulation of actin cytoskeleton organization [GO:0032956]; response to interferon-alpha [GO:0035455]; response to interferon-beta [GO:0035456]; response to interferon-gamma [GO:0034341]; response to virus [GO:0009615]; type I interferon signaling pathway [GO:0060337]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=2;  Name=1; Synonyms=l-Tetherin; IsoId=Q10589-1; Sequence=Displayed; Name=2; Synonyms=s-Tetherin; IsoId=Q10589-2; Sequence=VSP_053250; Note=Produced by alternative initiation at Met-13 of isoform 1.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network. Cell membrane {ECO:0000269|PubMed:26172439}; Single-pass type II membrane protein. Cell membrane {ECO:0000269|PubMed:19879838, ECO:0000269|PubMed:26172439}; Lipid-anchor, GPI-anchor {ECO:0000269|PubMed:19879838, ECO:0000305|PubMed:26172439}. Late endosome {ECO:0000269|PubMed:20419159}. Membrane raft. Cytoplasm. Apical cell membrane {ECO:0000250}. Note=Shuttles between the cell membrane, where it is present predominantly in membrane/lipid rafts, and the trans-Golgi network. HIV-1 VPU and HIV-2 ENV can target it to the trans-Golgi network thus sequestering it away from virus assembly sites on the cell membrane. Targeted to late endosomes upon KSHV infection and subsequent ubiquitination. Forms a complex with MMP14 and localizes to the cytoplasm.


uniprotID: Q8N910
geneSymbol: C15orf56
name: Putative uncharacterized protein C15orf56
length: 161
snps: rs55863440 rs55974545 rs55799438
sequence:
MPRAGRAPAEGGPAPGTRSSRCLRPRPLAWRRLVPNFGAWAPRKGAARVGRPVLSPRTSGAAGEPTCGAGSPGTLEEGVASGRTRRRTQSAGEVAKCRWGLGQEPLCPRGAVLLNSFSPPAWPQFPPALRLRALAWPQPRGPACGSTAQWPPRGDPTWRIS


uniprotID: A8K5M9
geneSymbol: C15orf62
name: Uncharacterized protein C15orf62, mitochondrial
length: 175
go: ENSG00000188277;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
sequence:
METWRKGSFRNASFFKQLSLGRPRRLRRQSSVLSQASTAGGDHEEYSNREVIRELQGRPDGRRLPLWGDEQPRATLLAPPKPPRLYRESSSCPNILEPPPAYTAAYSATLPSALSLSSALHQHSEKGLVDTPCFQRTPTPDLSDPFLSFKVDLGISLLEEVLQMLREQFPSEPSF

opentargets:
cytoplasm [GO:0005737]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; GTP-Rho binding [GO:0017049]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of pseudopodium assembly [GO:0031274]; regulation of cell shape [GO:0008360]; Rho protein signal transduction [GO:0007266]


uniprotID: P02452
geneSymbol: COL1A1
pdb: 1Q7D;2LLP;3EJH;3GXE;5CTD;5CTI;5CVA;5CVB;5K31;
name: Collagen alpha-1(I) chain (Alpha-1 type I collagen)
length: 1464
drug: DB00048;DB04866;
reactome:
R-HSA-114604;R-HSA-1442490;R-HSA-1474244;R-HSA-1650814;R-HSA-198933;R-HSA-2022090;R-HSA-202733;R-HSA-216083;R-HSA-2214320;R-HSA-2243919;R-HSA-3000170;R-HSA-3000171;R-HSA-3000178;R-HSA-3000480;R-HSA-430116;R-HSA-75892;R-HSA-76009;R-HSA-8874081;R-HSA-8940973;R-HSA-8948216;

sequence:

opentargets:
collagen type I trimer [GO:0005584]; collagen-containing extracellular matrix [GO:0062023]; cytoplasm [GO:0005737]; endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; secretory granule [GO:0030141]; extracellular matrix structural constituent [GO:0005201]; extracellular matrix structural constituent conferring tensile strength [GO:0030020]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; platelet-derived growth factor binding [GO:0048407]; protease binding [GO:0002020]; blood coagulation [GO:0007596]; blood vessel development [GO:0001568]; bone trabecula formation [GO:0060346]; cartilage development involved in endochondral bone morphogenesis [GO:0060351]; cellular response to amino acid stimulus [GO:0071230]; cellular response to epidermal growth factor stimulus [GO:0071364]; cellular response to fibroblast growth factor stimulus [GO:0044344]; cellular response to fluoride [GO:1902618]; cellular response to mechanical stimulus [GO:0071260]; cellular response to retinoic acid [GO:0071300]; cellular response to transforming growth factor beta stimulus [GO:0071560]; cellular response to tumor necrosis factor [GO:0071356]; cellular response to vitamin E [GO:0071306]; collagen biosynthetic process [GO:0032964]; collagen fibril organization [GO:0030199]; collagen-activated tyrosine kinase receptor signaling pathway [GO:0038063]; embryonic skeletal system development [GO:0048706]; endochondral ossification [GO:0001958]; extracellular matrix organization [GO:0030198]; face morphogenesis [GO:0060325]; intramembranous ossification [GO:0001957]; leukocyte migration [GO:0050900]; negative regulation of cell-substrate adhesion [GO:0010812]; ossification [GO:0001503]; osteoblast differentiation [GO:0001649]; platelet activation [GO:0030168]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of cell migration [GO:0030335]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; positive regulation of transcription, DNA-templated [GO:0045893]; protein heterotrimerization [GO:0070208]; protein localization to nucleus [GO:0034504]; protein transport [GO:0015031]; regulation of immune response [GO:0050776]; response to cAMP [GO:0051591]; response to corticosteroid [GO:0031960]; response to estradiol [GO:0032355]; response to hydrogen peroxide [GO:0042542]; response to hyperoxia [GO:0055093]; response to mechanical stimulus [GO:0009612]; response to peptide hormone [GO:0043434]; sensory perception of sound [GO:0007605]; skeletal system development [GO:0001501]; skin development [GO:0043588]; skin morphogenesis [GO:0043589]; tooth eruption [GO:0044691]; tooth mineralization [GO:0034505]; visual perception [GO:0007601]

snps:
rs8179178 rs72667032 rs116794104 rs57377812 rs1800211 rs1800214 rs1135348 rs1800215 rs41316713 rs41316719 rs3205325 rs2586486 rs1059454 rs1059454 rs1800220 rs17857117 rs17853657 


uniprotID: Q96K17
geneSymbol: BTF3L4
name: Transcription factor BTF3 homolog 4 (Basic transcription factor 3-like 4)
length: 158
go: ENSG00000134717;
sequence:
MNQEKLAKLQAQVRIGGKGTARRKKKVVHRTATADDKKLQSSLKKLAVNNIAGIEEVNMIKDDGTVIHFNNPKVQASLSANTFAITGHAEAKPITEMLPGILSQLGADSLTSLRKLAEQFPRQVLDSKAPKPEDIDEEDDDVPDLVENFDEASKNEAN

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96K17-1; Sequence=Displayed; Name=2; IsoId=Q96K17-2; Sequence=VSP_044248; Name=3; IsoId=Q96K17-3; Sequence=VSP_045972, VSP_045973; Note=No experimental confirmation available.; 


uniprotID: Q9H0C5
geneSymbol: BTBD1
reactome: R-HSA-8951664;R-HSA-983168;
length: 482
go: ENSG00000064726;
name:
BTB/POZ domain-containing protein 1 (Hepatitis C virus NS5A-transactivated protein 8) (HCV NS5A-transactivated protein 8)

sequence:

opentargets:
cytosol [GO:0005829]; P-body [GO:0000932]; protein-containing complex [GO:0032991]; muscle organ development [GO:0007517]; neurogenesis [GO:0022008]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]; regulation of protein binding [GO:0043393]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H0C5-1; Sequence=Displayed; Name=2; IsoId=Q9H0C5-2; Sequence=VSP_047146, VSP_047147; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11818025, ECO:0000269|PubMed:12878161}. Note=Localizes to punctate or elongated cytoplasmic bodies. {ECO:0000269|PubMed:11818025, ECO:0000269|PubMed:12878161}.


uniprotID: Q9P203
geneSymbol: BTBD7
name: BTB/POZ domain-containing protein 7
length: 1132
go: ENSG00000011114;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
nucleus [GO:0005634]; multicellular organism development [GO:0007275]; regulation of branching involved in salivary gland morphogenesis [GO:0060693]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9P203-1; Sequence=Displayed; Name=3; IsoId=Q9P203-3; Sequence=VSP_041483, VSP_041487; Name=5; IsoId=Q9P203-5; Sequence=VSP_041481, VSP_041482; 


uniprotID: Q5XKL5
geneSymbol: BTBD8
name: BTB/POZ domain-containing protein 8
length: 378
go: ENSG00000189195;
opentargets: nucleoplasm [GO:0005654]
snps: rs34856868 rs17131602
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5XKL5-1; Sequence=Displayed; Name=2; IsoId=Q5XKL5-2; Sequence=VSP_019116, VSP_019117; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14654994}. Note=Localized to nucleus in fetal cells.


uniprotID: Q96Q07
geneSymbol: BTBD9
name: BTB/POZ domain-containing protein 9
length: 612
go: ENSG00000183826;
sequence:

opentargets:
adult locomotory behavior [GO:0008344]; circadian behavior [GO:0048512]; circadian sleep/wake cycle, non-REM sleep [GO:0042748]; long-term memory [GO:0007616]; multicellular organismal iron ion homeostasis [GO:0060586]; regulation of synaptic vesicle endocytosis [GO:1900242]; sensory perception of temperature stimulus [GO:0050951]; serotonin metabolic process [GO:0042428]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96Q07-1; Sequence=Displayed; Name=2; IsoId=Q96Q07-2; Sequence=VSP_042543, VSP_042544; Note=No experimental confirmation available.; Name=3; IsoId=Q96Q07-3; Sequence=VSP_044247; 


uniprotID: Q9BSF8
geneSymbol: BTBD10
name: BTB/POZ domain-containing protein 10 (Glucose metabolism-related protein 1)
length: 475
go: ENSG00000148925;
snps: rs34185489
sequence:

opentargets:
cytoplasm [GO:0005737]; fibrillar center [GO:0001650]; nucleus [GO:0005634]; negative regulation of neuron death [GO:1901215]; positive regulation of phosphorylation [GO:0042327]; type B pancreatic cell proliferation [GO:0044342]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BSF8-1; Sequence=Displayed; Name=2; IsoId=Q9BSF8-2; Sequence=VSP_055552; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15556295}. Cytoplasm {ECO:0000250|UniProtKB:Q80X66}. Note=Colocalizes with KCTD20 in filamentous structures. {ECO:0000250|UniProtKB:Q80X66}.


uniprotID: A6QL63
geneSymbol: BTBD11
name: Ankyrin repeat and BTB/POZ domain-containing protein BTBD11 (BTB/POZ domain-containing protein 11)
length: 1104
go: ENSG00000151136;
snps: rs1558781 rs11610050 rs12303478
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; protein heterodimerization activity [GO:0046982]; SMAD protein signal transduction [GO:0060395]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=A6QL63-1; Sequence=Displayed; Name=2; IsoId=A6QL63-2; Sequence=VSP_032802; Note=No experimental confirmation available.; Name=3; IsoId=A6QL63-3; Sequence=VSP_032803; Note=No experimental confirmation available.; Name=4; IsoId=A6QL63-4; Sequence=VSP_032801; Name=5; IsoId=A6QL63-5; Sequence=VSP_045802, VSP_045803; Note=No experimental confirmation available.; 


uniprotID: A6NE02
geneSymbol: BTBD17
name: BTB/POZ domain-containing protein 17 (Galectin-3-binding protein-like)
length: 478
go: ENSG00000204347;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular region [GO:0005576]; plasma membrane [GO:0005886]; negative regulation of viral genome replication [GO:0045071]; response to virus [GO:0009615]


uniprotID: C9JJ37
geneSymbol: BTBD19
name: BTB/POZ domain-containing protein 19
length: 291
go: ENSG00000222009;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=C9JJ37-1; Sequence=Displayed; Name=2; IsoId=C9JJ37-2; Sequence=VSP_039226; Note=No experimental confirmation available.; 


uniprotID: P43251
geneSymbol: BTD
reactome: R-HSA-196780;R-HSA-3371598;
name: Biotinidase (Biotinase) (EC 3.5.1.12)
length: 543
go: ENSG00000169814;
location: SUBCELLULAR LOCATION: Secreted, extracellular space.
sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; mitochondrial matrix [GO:0005759]; biotinidase activity [GO:0047708]; biotin metabolic process [GO:0006768]; central nervous system development [GO:0007417]

snps:
rs397514355 rs13073139 rs397514380 rs397507176 rs35034250 rs13078881 rs397514419 rs80338685 rs104893688 rs80338686 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P43251-1; Sequence=Displayed; Name=2; IsoId=P43251-2; Sequence=VSP_054925; Note=No experimental confirmation available.; Name=3; IsoId=P43251-3; Sequence=VSP_054926; Note=No experimental confirmation available.; Name=4; IsoId=P43251-4; Sequence=VSP_055921; Note=No experimental confirmation available.; 


uniprotID: P20290
geneSymbol: BTF3
pdb: 3LKX;3MCB;
length: 206
go: ENSG00000145741;
name:
Transcription factor BTF3 (Nascent polypeptide-associated complex subunit beta) (NAC-beta) (RNA polymerase B transcription factor 3)

sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; RNA binding [GO:0003723]; in utero embryonic development [GO:0001701]; protein transport [GO:0015031]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=BTF3a; IsoId=P20290-1; Sequence=Displayed; Name=2; Synonyms=BTF3b; IsoId=P20290-2; Sequence=VSP_013587; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10982809}. Nucleus {ECO:0000269|PubMed:10982809}. Note=The heterodimer with NACA is cytoplasmic.


uniprotID: P01024
geneSymbol: C3
length: 1663
go: ENSG00000125730;
drug: DB00028;DB01915;
location: SUBCELLULAR LOCATION: Secreted.
reactome:
R-HSA-173736;R-HSA-174577;R-HSA-198933;R-HSA-375276;R-HSA-381426;R-HSA-418594;R-HSA-6798695;R-HSA-8957275;R-HSA-977606;

pdb:
1C3D;1GHQ;1W2S;2A73;2A74;2GOX;2I07;2ICE;2ICF;2NOJ;2QKI;2WII;2WIN;2WY7;2WY8;2XQW;2XWB;2XWJ;3D5R;3D5S;3G6J;3L3O;3L5N;3NMS;3OED;3OHX;3OXU;3RJ3;3T4A;4HW5;4HWJ;4I6O;4M76;4ONT;4ZH1;5FO7;5FO8;5FO9;5FOA;5FOB;5M6W;5NBQ;5O32;5O35;6EHG;

name:
Complement C3 (C3 and PZP-like alpha-2-macroglobulin domain-containing protein 1) [Cleaved into: Complement C3 beta chain; C3-beta-c (C3bc); Complement C3 alpha chain; C3a anaphylatoxin; Acylation stimulating protein (ASP) (C3adesArg); Complement C3b alpha' chain; Complement C3c alpha' chain fragment 1; Complement C3dg fragment; Complement C3g fragment; Complement C3d fragment; Complement C3f fragment; Complement C3c alpha' chain fragment 2]

sequence:

opentargets:
azurophil granule lumen [GO:0035578]; blood microparticle [GO:0072562]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; secretory granule lumen [GO:0034774]; C5L2 anaphylatoxin chemotactic receptor binding [GO:0031715]; endopeptidase inhibitor activity [GO:0004866]; serine-type endopeptidase activity [GO:0004252]; signaling receptor binding [GO:0005102]; amyloid-beta clearance [GO:0097242]; cell surface receptor signaling pathway involved in cell-cell signaling [GO:1905114]; cellular protein metabolic process [GO:0044267]; complement activation [GO:0006956]; complement activation, alternative pathway [GO:0006957]; complement activation, classical pathway [GO:0006958]; fatty acid metabolic process [GO:0006631]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; inflammatory response [GO:0006954]; neutrophil degranulation [GO:0043312]; phagocytosis, engulfment [GO:0006911]; positive regulation of activation of membrane attack complex [GO:0001970]; positive regulation of angiogenesis [GO:0045766]; positive regulation of apoptotic cell clearance [GO:2000427]; positive regulation of G protein-coupled receptor signaling pathway [GO:0045745]; positive regulation of glucose transmembrane transport [GO:0010828]; positive regulation of lipid storage [GO:0010884]; positive regulation of phagocytosis, engulfment [GO:0060100]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of type IIa hypersensitivity [GO:0001798]; positive regulation of vascular endothelial growth factor production [GO:0010575]; post-translational protein modification [GO:0043687]; regulation of complement activation [GO:0030449]; regulation of immune response [GO:0050776]; regulation of triglyceride biosynthetic process [GO:0010866]; response to bacterium [GO:0009617]; signal transduction [GO:0007165]

snps:
rs2230199 rs147859257 rs1047286 rs11569422 rs1449441916 rs121909583 rs771353792 rs117793540 rs11569472 rs121909584 rs121909585 rs11569534 rs11569541 rs7256789 rs1803225 rs2230210 


uniprotID: A8MVZ5
geneSymbol: BTNL10
name: Butyrophilin-like protein 10
length: 291
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; signaling receptor binding [GO:0005102]; regulation of immune response [GO:0050776]; T cell receptor signaling pathway [GO:0050852]


uniprotID: Q9NY30
geneSymbol: BTG4
name: Protein BTG4 (BTG family member 4) (Protein PC3b)
length: 223
go: ENSG00000137707;
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; cell cycle arrest [GO:0007050]; negative regulation of cell proliferation [GO:0008285]; negative regulation of mitotic cell cycle [GO:0045930]; neuron differentiation [GO:0030182]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NY30-1; Sequence=Displayed; Name=2; IsoId=Q9NY30-2; Sequence=VSP_053851; Note=No experimental confirmation available.; 


uniprotID: Q14050
geneSymbol: COL9A3
pdb: 5CTD;5CTI;5CVA;5CVB;
name: Collagen alpha-3(IX) chain
length: 684
go: ENSG00000092758;
snps: rs1390736361 rs35908728 rs142639450 rs61734651 rs45628843 rs373519549 rs751557
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
sequence:

opentargets:
collagen type IX trimer [GO:0005594]; 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]; extracellular matrix organization [GO:0030198]; female gonad development [GO:0008585]; male gonad development [GO:0008584]


uniprotID: Q06187
geneSymbol: BTK
length: 659
go: ENSG00000010671;
drug: DB09053;DB05204;
reactome:
R-HSA-1236974;R-HSA-166058;R-HSA-2029482;R-HSA-2424491;R-HSA-2871809;R-HSA-5602498;R-HSA-5603041;R-HSA-5663213;R-HSA-983695;

pdb:
1AWW;1AWX;1B55;1BTK;1BWN;1K2P;1QLY;2GE9;2Z0P;3GEN;3K54;3OCS;3OCT;3P08;3PIX;3PIY;3PIZ;3PJ1;3PJ2;3PJ3;4NWM;4OT5;4OT6;4OTF;4OTQ;4OTR;4RFY;4RFZ;4RG0;4RX5;4YHF;4Z3V;4ZLY;4ZLZ;5BPY;5BQ0;5FBN;5FBO;5J87;5JRS;5KUP;5P9F;5P9G;5P9H;5P9I;5P9J;5P9K;5P9L;5P9M;5T18;5U9D;5VFI;5VGO;5XYZ;5ZZ4;6AUA;6AUB;6DI3;6DI5;6DI9;6E4F;6EP9;

name:
Tyrosine-protein kinase BTK (EC 2.7.10.2) (Agammaglobulinemia tyrosine kinase) (ATK) (B-cell progenitor kinase) (BPK) (Bruton tyrosine kinase)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; mast cell granule [GO:0042629]; membrane raft [GO:0045121]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; phosphatidylinositol-3,4,5-trisphosphate binding [GO:0005547]; protein tyrosine kinase activity [GO:0004713]; adaptive immune response [GO:0002250]; apoptotic signaling pathway [GO:0097190]; B cell activation [GO:0042113]; B cell affinity maturation [GO:0002344]; B cell receptor signaling pathway [GO:0050853]; calcium-mediated signaling [GO:0019722]; cell maturation [GO:0048469]; cellular response to interleukin-7 [GO:0098761]; cellular response to molecule of fungal origin [GO:0071226]; cellular response to reactive oxygen species [GO:0034614]; Fc-epsilon receptor signaling pathway [GO:0038095]; histamine secretion by mast cell [GO:0002553]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; innate immune response [GO:0045087]; intracellular signal transduction [GO:0035556]; mesoderm development [GO:0007498]; MyD88-dependent toll-like receptor signaling pathway [GO:0002755]; negative regulation of B cell proliferation [GO:0030889]; negative regulation of cytokine production [GO:0001818]; peptidyl-tyrosine autophosphorylation [GO:0038083]; peptidyl-tyrosine phosphorylation [GO:0018108]; positive regulation of B cell differentiation [GO:0045579]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of type I hypersensitivity [GO:0001812]; positive regulation of type III hypersensitivity [GO:0001805]; protein phosphorylation [GO:0006468]; regulation of B cell apoptotic process [GO:0002902]; regulation of B cell cytokine production [GO:0002721]; T cell receptor signaling pathway [GO:0050852]

snps:
rs128620185 rs128620189 rs56035945 rs128621190 rs128621194 rs128621195 rs128621196 rs28935478 rs128621198 rs144079566 rs128620184 rs1057519825 rs1057519826 rs41310709 rs128621200 rs128621202 rs128620183 rs128621203 rs104894770 rs128621204 rs128621205 rs128621206 rs128621208 rs128621209 rs128621210 rs128622212 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage; Named isoforms=2;  Name=BTK-A; IsoId=Q06187-1; Sequence=Displayed; Name=BTK-C; IsoId=Q06187-2; Sequence=VSP_053838; Note=Produced by alternative promoter usage. Predominant form in many tumor cells where it may function as an anti-apoptotic cell survival factor.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cell membrane; Peripheral membrane protein. Nucleus. Note=In steady state, BTK is predominantly cytosolic. Following B-cell receptor (BCR) engagement by antigen, translocates to the plasma membrane through its PH domain. Plasma membrane localization is a critical step in the activation of BTK. A fraction of BTK also shuttles between the nucleus and the cytoplasm, and nuclear export is mediated by the nuclear export receptor CRM1.


uniprotID: P19099
geneSymbol: CYP11B2
reactome: R-HSA-193993;R-HSA-194002;R-HSA-211976;R-HSA-5579009;
pdb: 4DVQ;4FDH;4ZGX;
length: 503
go: ENSG00000179142;
drug: DB04630;DB00700;DB00292;DB00741;DB01233;DB01011;DB01388;DB00421;
location: SUBCELLULAR LOCATION: Mitochondrion membrane.
name:
Cytochrome P450 11B2, mitochondrial (Aldosterone synthase) (ALDOS) (EC 1.14.15.4) (EC 1.14.15.5) (Aldosterone-synthesizing enzyme) (CYPXIB2) (Cytochrome P-450Aldo) (Cytochrome P-450C18) (Steroid 18-hydroxylase)

sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; corticosterone 18-monooxygenase activity [GO:0047783]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; steroid 11-beta-monooxygenase activity [GO:0004507]; steroid hydroxylase activity [GO:0008395]; aldosterone biosynthetic process [GO:0032342]; C21-steroid hormone biosynthetic process [GO:0006700]; cellular response to hormone stimulus [GO:0032870]; cellular response to peptide hormone stimulus [GO:0071375]; cellular response to potassium ion [GO:0035865]; cholesterol metabolic process [GO:0008203]; cortisol biosynthetic process [GO:0034651]; glucocorticoid biosynthetic process [GO:0006704]; mineralocorticoid biosynthetic process [GO:0006705]; potassium ion homeostasis [GO:0055075]; regulation of blood volume by renal aldosterone [GO:0002017]; renal water homeostasis [GO:0003091]; sodium ion homeostasis [GO:0055078]; sterol metabolic process [GO:0016125]

snps:
rs6438 rs6441 rs4539 rs28931609 rs121912978 rs104894072 rs5308 rs4547 rs4537 rs4544 rs5312 rs61757294 rs5315 rs4545 rs72554627 rs5317 rs72554626 


uniprotID: Q7Z5L3
geneSymbol: C1QL2
length: 287
go: ENSG00000144119;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
name:
Complement C1q-like protein 2 (C1q and tumor necrosis factor-related protein 10) (C1q/TNF-related protein 10)

sequence:

opentargets:
collagen trimer [GO:0005581]; extracellular region [GO:0005576]; identical protein binding [GO:0042802]; protein complex oligomerization [GO:0051259]


uniprotID: B2RNN3
geneSymbol: C1QTNF9B
length: 333
go: ENSG00000205863;
opentargets: collagen trimer [GO:0005581]; extracellular region [GO:0005576]
name:
Complement C1q and tumor necrosis factor-related protein 9B (C1q/TNF-related protein 9B) (CTRP9B) (Complement C1q and tumor necrosis factor-related protein 9-like)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=B2RNN3-1; Sequence=Displayed; Name=2; IsoId=B2RNN3-2; Sequence=VSP_035153, VSP_035154; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:19666007}. Note=Heteromeric complex formation with CTRP9A or ADIPOQ is required for secretion, otherwise, it is retained in the endoplasmic reticulum.


uniprotID: Q6ZSU1
geneSymbol: CYP2G1P
name: Putative inactive cytochrome P450 2G1 (Cytochrome P450 2G1 pseudogene)
length: 146
sequence:
MPYTDVVIHEIQRLVDIVPMGVPHNIIQDTQFRGYLLPKGTDVFPLLGSVLKDPKYFRYPDAFYPQHFLDEQGRFKKNEAFVPFSSGKRICLGEAMARMELFLYFTSTLQNFSLCSLVPLVDIDITPKLSGFGNITPTYELCLVAR

opentargets:
cytoplasm [GO:0005737]; intracellular membrane-bounded organelle [GO:0043231]; arachidonic acid epoxygenase activity [GO:0008392]; 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]; steroid hydroxylase activity [GO:0008395]; 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: P33076
geneSymbol: CIITA
reactome: R-HSA-877300;
name: MHC class II transactivator (CIITA) (EC 2.3.1.-) (EC 2.7.11.1)
length: 1130
go: ENSG00000179583;
snps: rs2229317 rs8046121 rs4774 rs2229319 rs13330686 rs13336804 rs7197779
sequence:

opentargets:
nucleoplasm [GO:0005654]; PML body [GO:0016605]; activating transcription factor binding [GO:0033613]; ATP binding [GO:0005524]; GTP binding [GO:0005525]; kinase activity [GO:0016301]; protein C-terminus binding [GO:0008022]; protein-containing complex binding [GO:0044877]; transcription coactivator activity [GO:0003713]; transcription regulatory region DNA binding [GO:0044212]; transferase activity, transferring acyl groups [GO:0016746]; immune response [GO:0006955]; inflammatory response [GO:0006954]; interferon-gamma-mediated signaling pathway [GO:0060333]; negative regulation of collagen biosynthetic process [GO:0032966]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of MHC class I biosynthetic process [GO:0045345]; positive regulation of MHC class II biosynthetic process [GO:0045348]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; response to antibiotic [GO:0046677]; response to interferon-gamma [GO:0034341]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P33076-1; Sequence=Displayed; Name=2; IsoId=P33076-2; Sequence=VSP_055099, VSP_055102, VSP_055103; Name=3; Synonyms=hCIITA'; IsoId=P33076-3; Sequence=VSP_055099, VSP_055100, VSP_055101; Note=Exhibits dominant-negative suppression of MHC class II gene expression.; Name=4; IsoId=P33076-4; Sequence=VSP_055102, VSP_055103; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23007646}. Nucleus, PML body {ECO:0000269|PubMed:23007646}. Note=Recruited to PML body by PML.


uniprotID: Q86YS7
geneSymbol: C2CD5
reactome: R-HSA-1445148;
name: C2 domain-containing protein 5 (C2 domain-containing phosphoprotein of 138 kDa)
length: 1000
go: ENSG00000111731;
sequence:

opentargets:
cell cortex [GO:0005938]; cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; microtubule organizing center [GO:0005815]; plasma membrane [GO:0005886]; ruffle membrane [GO:0032587]; calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; cellular response to insulin stimulus [GO:0032869]; insulin receptor signaling pathway via phosphatidylinositol 3-kinase [GO:0038028]; intracellular protein transmembrane transport [GO:0065002]; positive regulation of glucose import in response to insulin stimulus [GO:2001275]; positive regulation of glucose transmembrane transport [GO:0010828]; positive regulation of protein targeting to membrane [GO:0090314]; positive regulation of vesicle fusion [GO:0031340]; protein localization to plasma membrane [GO:0072659]; vesicle fusion [GO:0006906]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q86YS7-1; Sequence=Displayed; Name=2; IsoId=Q86YS7-2; Sequence=VSP_028255, VSP_028256; Note=No experimental confirmation available.; Name=3; IsoId=Q86YS7-3; Sequence=VSP_028256; Note=No experimental confirmation available.; Name=4; IsoId=Q86YS7-4; Sequence=VSP_028255, VSP_055638, VSP_028256; Note=No experimental confirmation available. {ECO:0000305}; Name=5; IsoId=Q86YS7-5; Sequence=VSP_028255, VSP_055639, VSP_055640; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane {ECO:0000269|PubMed:21907143}. Cytoplasm, cell cortex {ECO:0000269|PubMed:21907143}. Cell membrane {ECO:0000269|PubMed:21907143}. Cell projection, ruffle {ECO:0000269|PubMed:21907143}. Note=Dynamically associated with GLUT4-containing glucose storage vesicles (GSV) and plasma membrane in response to insulin stimulation.


uniprotID: Q9Y471
geneSymbol: CMAHP
length: 501
name:
Inactive cytidine monophosphate-N-acetylneuraminic acid hydroxylase (CMP-NeuAc hydroxylase-like protein) (Cytidine monophosphate-N-acetylneuraminic acid hydroxylase pseudogene)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; membrane [GO:0016020]; nucleus [GO:0005634]; oxidation-reduction process [GO:0055114]; regulation of Wnt signaling pathway [GO:0030111]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y471-1; Sequence=Displayed; Name=2; IsoId=Q9Y471-4; Sequence=VSP_057565, VSP_057566; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19890979}. Note=May localize to membranes, nucleus and cytoskeleton. {ECO:0000269|PubMed:19890979}.


uniprotID: Q17RA5
geneSymbol: C21orf62-AS1
sequence: MHHVRQLMMPICPMALNSTTSSSTTFGAFRIMTLNVEEWATAWKVLILLEAAVEEEKRSEEKRILVCGTCGTRSSQKNL
length: 79
name:
Putative uncharacterized protein C21orf62-AS1 (C21orf62 antisense RNA 1) (C21orf62 antisense gene protein 1)


uniprotID: Q9UJS0
geneSymbol: SLC25A13
reactome: R-HSA-1268020;R-HSA-70263;
pdb: 4P5W;
length: 675
go: ENSG00000004864;
drug: DB00128;
snps: rs1131697 rs10255762 rs80338727
name:
Calcium-binding mitochondrial carrier protein Aralar2 (Citrin) (Mitochondrial aspartate glutamate carrier 2) (Solute carrier family 25 member 13)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; acidic amino acid transmembrane transporter activity [GO:0015172]; calcium ion binding [GO:0005509]; identical protein binding [GO:0042802]; L-aspartate transmembrane transporter activity [GO:0015183]; L-glutamate transmembrane transporter activity [GO:0005313]; transporter activity [GO:0005215]; aspartate transmembrane transport [GO:0015810]; ATP biosynthetic process [GO:0006754]; cellular respiration [GO:0045333]; gluconeogenesis [GO:0006094]; L-glutamate transmembrane transport [GO:0015813]; malate-aspartate shuttle [GO:0043490]; mitochondrial transport [GO:0006839]; response to calcium ion [GO:0051592]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UJS0-1; Sequence=Displayed; Name=2; IsoId=Q9UJS0-2; Sequence=VSP_043747; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:10642534}; Multi-pass membrane protein {ECO:0000269|PubMed:10642534}.


uniprotID: Q13873
geneSymbol: BMPR2
reactome: R-HSA-201451;
pdb: 2HLQ;3G2F;
length: 1038
go: ENSG00000204217;
name:
Bone morphogenetic protein receptor type-2 (BMP type-2 receptor) (BMPR-2) (EC 2.7.11.30) (Bone morphogenetic protein receptor type II) (BMP type II receptor) (BMPR-II)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; basal plasma membrane [GO:0009925]; caveola [GO:0005901]; cell surface [GO:0009986]; cell-cell adherens junction [GO:0005913]; cytoplasm [GO:0005737]; dendrite [GO:0030425]; extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; neuronal cell body [GO:0043025]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; receptor complex [GO:0043235]; spanning component of plasma membrane [GO:0044214]; activin receptor activity, type II [GO:0016362]; ATP binding [GO:0005524]; BMP binding [GO:0036122]; BMP receptor activity [GO:0098821]; growth factor binding [GO:0019838]; metal ion binding [GO:0046872]; SMAD binding [GO:0046332]; transforming growth factor beta receptor activity, type II [GO:0005026]; transforming growth factor beta-activated receptor activity [GO:0005024]; anterior/posterior pattern specification [GO:0009952]; artery development [GO:0060840]; atrial septum morphogenesis [GO:0060413]; blood vessel remodeling [GO:0001974]; BMP signaling pathway [GO:0030509]; brain development [GO:0007420]; cellular response to BMP stimulus [GO:0071773]; cellular response to starvation [GO:0009267]; chondrocyte development [GO:0002063]; endocardial cushion development [GO:0003197]; endochondral bone morphogenesis [GO:0060350]; endothelial cell apoptotic process [GO:0072577]; endothelial cell proliferation [GO:0001935]; limb development [GO:0060173]; lung alveolus development [GO:0048286]; lymphangiogenesis [GO:0001946]; lymphatic endothelial cell differentiation [GO:0060836]; maternal placenta development [GO:0001893]; mesoderm formation [GO:0001707]; mitral valve morphogenesis [GO:0003183]; negative regulation of cell growth [GO:0030308]; negative regulation of cell proliferation involved in heart valve morphogenesis [GO:0003252]; negative regulation of chondrocyte proliferation [GO:1902731]; negative regulation of DNA biosynthetic process [GO:2000279]; negative regulation of systemic arterial blood pressure [GO:0003085]; negative regulation of vasoconstriction [GO:0045906]; outflow tract morphogenesis [GO:0003151]; outflow tract septum morphogenesis [GO:0003148]; pattern specification process [GO:0007389]; pharyngeal arch artery morphogenesis [GO:0061626]; positive regulation of axon extension involved in axon guidance [GO:0048842]; positive regulation of BMP signaling pathway [GO:0030513]; positive regulation of bone mineralization [GO:0030501]; positive regulation of cartilage development [GO:0061036]; positive regulation of endothelial cell migration [GO:0010595]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of epithelial cell migration [GO:0010634]; positive regulation of ossification [GO:0045778]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; positive regulation of transcription by RNA polymerase II [GO:0045944]; proteoglycan biosynthetic process [GO:0030166]; regulation of cell proliferation [GO:0042127]; regulation of lung blood pressure [GO:0014916]; retina vasculature development in camera-type eye [GO:0061298]; semi-lunar valve development [GO:1905314]; transcription by RNA polymerase II [GO:0006366]; transforming growth factor beta receptor signaling pathway [GO:0007179]; transmembrane receptor protein serine/threonine kinase signaling pathway [GO:0007178]; tricuspid valve morphogenesis [GO:0003186]; venous blood vessel development [GO:0060841]; ventricular septum morphogenesis [GO:0060412]

snps:
rs1085307172 rs1085307177 rs1085307185 rs1085307197 rs137852743 rs137852750 rs137852750 rs137852754 rs754343081 rs767882551 rs137852744 rs1085307324 rs1085307354 rs137852745 rs137852749 rs137852746 rs1085307364 rs1085307365 rs2228545 rs1006246556 rs137852752 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13873-1; Sequence=Displayed; Name=2; IsoId=Q13873-2; Sequence=VSP_054441, VSP_054442; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:25187962}; Single-pass type I membrane protein.


uniprotID: P12643
geneSymbol: BMP2
reactome: R-HSA-201451;R-HSA-2129379;R-HSA-8878166;R-HSA-8939902;
pdb: 1ES7;1REU;1REW;2GOO;2H62;2H64;2QJ9;2QJA;2QJB;3BK3;3BMP;4MID;4N1D;4UHY;4UHZ;4UI0;4UI1;4UI2;
name: Bone morphogenetic protein 2 (BMP-2) (Bone morphogenetic protein 2A) (BMP-2A)
length: 396
go: ENSG00000125845;
snps: rs2273073 rs36105541 rs2273074 rs34183594 rs235768 rs11545591
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
BMP receptor complex [GO:0070724]; cell surface [GO:0009986]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular membrane-bounded organelle [GO:0043231]; BMP receptor binding [GO:0070700]; co-receptor binding [GO:0039706]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; phosphatase activator activity [GO:0019211]; protein heterodimerization activity [GO:0046982]; retinol dehydrogenase activity [GO:0004745]; signaling receptor binding [GO:0005102]; SMAD binding [GO:0046332]; transforming growth factor beta receptor binding [GO:0005160]; activation of MAPK activity [GO:0000187]; animal organ morphogenesis [GO:0009887]; atrioventricular valve morphogenesis [GO:0003181]; BMP signaling pathway [GO:0030509]; BMP signaling pathway involved in heart induction [GO:0003130]; bone mineralization [GO:0030282]; bone mineralization involved in bone maturation [GO:0035630]; branching involved in ureteric bud morphogenesis [GO:0001658]; cardiac epithelial to mesenchymal transition [GO:0060317]; cardiac muscle cell differentiation [GO:0055007]; cardiac muscle tissue morphogenesis [GO:0055008]; cardiocyte differentiation [GO:0035051]; cell development [GO:0048468]; cell fate commitment [GO:0045165]; cell-cell signaling [GO:0007267]; cellular response to BMP stimulus [GO:0071773]; cellular response to organic cyclic compound [GO:0071407]; chondrocyte differentiation [GO:0002062]; corticotropin hormone secreting cell differentiation [GO:0060128]; embryonic heart tube anterior/posterior pattern specification [GO:0035054]; endocardial cushion morphogenesis [GO:0003203]; epithelial to mesenchymal transition [GO:0001837]; heart development [GO:0007507]; in utero embryonic development [GO:0001701]; inflammatory response [GO:0006954]; inner ear development [GO:0048839]; mesenchymal cell differentiation [GO:0048762]; mesenchymal cell proliferation involved in ureteric bud development [GO:0072138]; mesenchyme development [GO:0060485]; negative regulation of aldosterone biosynthetic process [GO:0032348]; negative regulation of calcium-independent cell-cell adhesion [GO:0051042]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cardiac muscle cell differentiation [GO:2000726]; negative regulation of cell cycle [GO:0045786]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cortisol biosynthetic process [GO:2000065]; negative regulation of gene expression [GO:0010629]; negative regulation of insulin-like growth factor receptor signaling pathway [GO:0043569]; negative regulation of steroid biosynthetic process [GO:0010894]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of Wnt signaling pathway involved in heart development [GO:0003308]; Notch signaling pathway [GO:0007219]; odontogenesis of dentin-containing tooth [GO:0042475]; osteoblast differentiation [GO:0001649]; pathway-restricted SMAD protein phosphorylation [GO:0060389]; pericardium development [GO:0060039]; positive regulation of apoptotic process [GO:0043065]; positive regulation of astrocyte differentiation [GO:0048711]; positive regulation of bone mineralization [GO:0030501]; positive regulation of cartilage development [GO:0061036]; positive regulation of cell migration [GO:0030335]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of fat cell differentiation [GO:0045600]; positive regulation of gene expression [GO:0010628]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of odontogenesis [GO:0042482]; positive regulation of ossification [GO:0045778]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of osteoblast proliferation [GO:0033690]; positive regulation of p38MAPK cascade [GO:1900745]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; positive regulation of phosphatase activity [GO:0010922]; positive regulation of pri-miRNA transcription by RNA polymerase II [GO:1902895]; positive regulation of protein binding [GO:0032092]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus [GO:1901522]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of Wnt signaling pathway [GO:0030177]; positive regulation of Wnt signaling pathway by BMP signaling pathway [GO:0060804]; protein destabilization [GO:0031648]; protein phosphorylation [GO:0006468]; proteoglycan metabolic process [GO:0006029]; regulation of apoptotic process [GO:0042981]; regulation of MAPK cascade [GO:0043408]; regulation of odontogenesis of dentin-containing tooth [GO:0042487]; regulation of transcription, DNA-templated [GO:0006355]; response to bacterium [GO:0009617]; response to hypoxia [GO:0001666]; skeletal system development [GO:0001501]; SMAD protein signal transduction [GO:0060395]; telencephalon development [GO:0021537]; telencephalon regionalization [GO:0021978]; thyroid-stimulating hormone-secreting cell differentiation [GO:0060129]


uniprotID: O60238
geneSymbol: BNIP3L
reactome: R-HSA-6803204;
length: 219
go: ENSG00000104765;
name:
BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like (Adenovirus E1B19K-binding protein B5) (BCL2/adenovirus E1B 19 kDa protein-interacting protein 3A) (NIP3-like protein X) (NIP3L)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]; intrinsic component of membrane [GO:0031224]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; nuclear envelope [GO:0005635]; nuclear speck [GO:0016607]; identical protein binding [GO:0042802]; lamin binding [GO:0005521]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; cellular response to hypoxia [GO:0071456]; defense response to virus [GO:0051607]; mitochondrial outer membrane permeabilization [GO:0097345]; mitochondrial protein catabolic process [GO:0035694]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell death [GO:0060548]; negative regulation of mitochondrial membrane potential [GO:0010917]; positive regulation of apoptotic process [GO:0043065]; positive regulation of macroautophagy [GO:0016239]; regulation of apoptotic process [GO:0042981]; regulation of autophagy of mitochondrion [GO:1903146]; regulation of protein targeting to mitochondrion [GO:1903214]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60238-1; Sequence=Displayed; Name=2; IsoId=O60238-2; Sequence=VSP_056248; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus envelope. Endoplasmic reticulum. Mitochondrion outer membrane. Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Note=Colocalizes with SPATA18 at the mitochondrion outer membrane.


uniprotID: Q14692
geneSymbol: BMS1
reactome: R-HSA-6790901;R-HSA-6791226;
name: Ribosome biogenesis protein BMS1 homolog (Ribosome assembly protein BMS1 homolog)
length: 1282
go: ENSG00000165733;
snps: rs2272881 rs3814621 rs787795 rs2419109 rs587777706 rs12764004
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000250}.
sequence:

opentargets:
90S preribosome [GO:0030686]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; RNA binding [GO:0003723]; U3 snoRNA binding [GO:0034511]; maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000462]; rRNA processing [GO:0006364]


uniprotID: Q9NUP1
geneSymbol: BLOC1S4
reactome: R-HSA-432722;
length: 217
go: ENSG00000186222;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Biogenesis of lysosome-related organelles complex 1 subunit 4 (BLOC-1 subunit 4) (Protein cappuccino homolog)

sequence:

opentargets:
axon cytoplasm [GO:1904115]; BLOC-1 complex [GO:0031083]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; anterograde axonal transport [GO:0008089]; anterograde synaptic vesicle transport [GO:0048490]; melanosome organization [GO:0032438]; neuromuscular process controlling balance [GO:0050885]; neuron projection development [GO:0031175]; platelet aggregation [GO:0070527]


uniprotID: P35226
geneSymbol: BMI1
pdb: 2H0D;2NA1;3RPG;4R8P;5FR6;
name: Polycomb complex protein BMI-1 (Polycomb group RING finger protein 4) (RING finger protein 51)
length: 326
go: ENSG00000168283;
snps: rs1042059
sequence:

opentargets:
cytosol [GO:0005829]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PcG protein complex [GO:0031519]; PRC1 complex [GO:0035102]; ubiquitin ligase complex [GO:0000151]; promoter-specific chromatin binding [GO:1990841]; RING-like zinc finger domain binding [GO:0071535]; zinc ion binding [GO:0008270]; chromatin silencing [GO:0006342]; hemopoiesis [GO:0030097]; histone H2A-K119 monoubiquitination [GO:0036353]; negative regulation of G0 to G1 transition [GO:0070317]; negative regulation of gene expression, epigenetic [GO:0045814]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of ubiquitin-protein transferase activity [GO:0051443]; regulation of gene expression [GO:0010468]; segment specification [GO:0007379]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16882984, ECO:0000269|PubMed:9199346}. Cytoplasm {ECO:0000269|PubMed:16882984}.


uniprotID: P18075
geneSymbol: BMP7
reactome: R-HSA-2129379;
pdb: 1BMP;1LX5;1LXI;1M4U;
name: Bone morphogenetic protein 7 (BMP-7) (Osteogenic protein 1) (OP-1) (Eptotermin alfa)
length: 431
go: ENSG00000101144;
snps: rs376798352 rs61733438
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; vesicle [GO:0031982]; BMP receptor binding [GO:0070700]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; heparin binding [GO:0008201]; transforming growth factor beta receptor binding [GO:0005160]; allantois development [GO:1905069]; axon guidance [GO:0007411]; BMP signaling pathway [GO:0030509]; branching involved in salivary gland morphogenesis [GO:0060445]; branching morphogenesis of an epithelial tube [GO:0048754]; cardiac muscle tissue development [GO:0048738]; cardiac septum morphogenesis [GO:0060411]; cartilage development [GO:0051216]; cell development [GO:0048468]; cellular response to BMP stimulus [GO:0071773]; cellular response to hypoxia [GO:0071456]; chorio-allantoic fusion [GO:0060710]; dendrite development [GO:0016358]; embryonic camera-type eye morphogenesis [GO:0048596]; embryonic limb morphogenesis [GO:0030326]; embryonic pattern specification [GO:0009880]; embryonic skeletal joint morphogenesis [GO:0060272]; endocardial cushion formation [GO:0003272]; epithelial cell differentiation [GO:0030855]; epithelial to mesenchymal transition [GO:0001837]; heart trabecula morphogenesis [GO:0061384]; hindbrain development [GO:0030902]; mesenchymal cell differentiation [GO:0048762]; mesenchyme development [GO:0060485]; mesoderm formation [GO:0001707]; mesonephros development [GO:0001823]; metanephric mesenchymal cell proliferation involved in metanephros development [GO:0072136]; metanephric mesenchyme morphogenesis [GO:0072133]; metanephros development [GO:0001656]; monocyte aggregation [GO:0070487]; negative regulation of cell cycle [GO:0045786]; negative regulation of cell death [GO:0060548]; negative regulation of glomerular mesangial cell proliferation [GO:0072125]; negative regulation of MAP kinase activity [GO:0043407]; negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis [GO:0072040]; negative regulation of mitotic nuclear division [GO:0045839]; negative regulation of neuron differentiation [GO:0045665]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of NIK/NF-kappaB signaling [GO:1901223]; negative regulation of Notch signaling pathway [GO:0045746]; negative regulation of phosphorylation [GO:0042326]; negative regulation of prostatic bud formation [GO:0060686]; negative regulation of striated muscle cell apoptotic process [GO:0010664]; negative regulation of transcription, DNA-templated [GO:0045892]; nephrogenic mesenchyme morphogenesis [GO:0072134]; neural fold elevation formation [GO:0021502]; neuron projection morphogenesis [GO:0048812]; odontogenesis of dentin-containing tooth [GO:0042475]; ossification [GO:0001503]; pericardium morphogenesis [GO:0003344]; pharyngeal system development [GO:0060037]; positive regulation of apoptotic process [GO:0043065]; positive regulation of bone mineralization [GO:0030501]; positive regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis [GO:1905312]; positive regulation of dendrite development [GO:1900006]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; positive regulation of gene expression [GO:0010628]; positive regulation of heterotypic cell-cell adhesion [GO:0034116]; positive regulation of hyaluranon cable assembly [GO:1900106]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; positive regulation of peptidyl-threonine phosphorylation [GO:0010800]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; protein localization to nucleus [GO:0034504]; regulation of apoptotic process [GO:0042981]; regulation of branching involved in prostate gland morphogenesis [GO:0060687]; regulation of MAPK cascade [GO:0043408]; regulation of pathway-restricted SMAD protein phosphorylation [GO:0060393]; regulation of removal of superoxide radicals [GO:2000121]; response to estradiol [GO:0032355]; response to peptide hormone [GO:0043434]; response to vitamin D [GO:0033280]; skeletal system development [GO:0001501]; SMAD protein signal transduction [GO:0060395]; steroid hormone mediated signaling pathway [GO:0043401]; ureteric bud development [GO:0001657]


uniprotID: Q12830
geneSymbol: BPTF
pdb: 2F6J;2F6N;2FSA;2FUI;2FUU;2RI7;3QZS;3QZT;3QZV;3UV2;5H6Y;6AZE;
length: 3046
go: ENSG00000171634;
name:
Nucleosome-remodeling factor subunit BPTF (Bromodomain and PHD finger-containing transcription factor) (Fetal Alz-50 clone 1 protein) (Fetal Alzheimer antigen)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; NURF complex [GO:0016589]; metal ion binding [GO:0046872]; methylated histone binding [GO:0035064]; sequence-specific DNA binding [GO:0043565]; transcription factor binding [GO:0008134]; anterior/posterior pattern specification [GO:0009952]; brain development [GO:0007420]; chromatin remodeling [GO:0006338]; embryonic placenta development [GO:0001892]; endoderm development [GO:0007492]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q12830-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q12830-2; Sequence=VSP_020402; Name=4; IsoId=Q12830-4; Sequence=VSP_020405; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=In brains of Alzheimer disease patients, present in a subset of amyloid-containing plaques.


uniprotID: P59826
geneSymbol: BPIFB3
length: 476
snps: rs4911290 rs2093066 rs6057717 rs6059063 rs378098
name:
BPI fold-containing family B member 3 (Ligand-binding protein RYA3) (Long palate, lung and nasal epithelium carcinoma-associated protein 3)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; lipid binding [GO:0008289]; innate immune response [GO:0045087]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000250}. Cytoplasm {ECO:0000269|PubMed:12837268}. Note=According to PubMed:12837268, it is cytoplasmic.


uniprotID: Q9Y6Y1
geneSymbol: CAMTA1
pdb: 2CXK;
name: Calmodulin-binding transcription activator 1
length: 1673
go: ENSG00000171735;
snps: rs41278952 rs41278954 rs137974312
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}. Cytoplasm.
sequence:

opentargets:
cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; sequence-specific DNA binding [GO:0043565]; neuromuscular process controlling balance [GO:0050885]; positive regulation of calcineurin-NFAT signaling cascade [GO:0070886]; positive regulation of protein dephosphorylation [GO:0035307]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9Y6Y1-1; Sequence=Displayed; Name=2; IsoId=Q9Y6Y1-2; Sequence=VSP_035936, VSP_035937; Name=3; IsoId=Q9Y6Y1-3; Sequence=VSP_043842, VSP_043843; Note=No experimental confirmation available.; Name=4; IsoId=Q9Y6Y1-4; Sequence=VSP_046358, VSP_046359; Note=No experimental confirmation available.; 


uniprotID: Q8N1G2
geneSymbol: CMTR1
pdb: 4N48;4N49;4N4A;
length: 835
go: ENSG00000137200;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18533109, ECO:0000269|PubMed:21310715}.
name:
Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1 (EC 2.1.1.57) (Cap methyltransferase 1) (Cap1 2'O-ribose methyltransferase 1) (MTr1) (hMTr1) (FtsJ methyltransferase domain-containing protein 2) (Interferon-stimulated gene 95 kDa protein) (ISG95)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; mRNA (nucleoside-2'-O-)-methyltransferase activity [GO:0004483]; nucleic acid binding [GO:0003676]; 7-methylguanosine mRNA capping [GO:0006370]; cap1 mRNA methylation [GO:0097309]; mRNA methylation [GO:0080009]


uniprotID: Q58F21
geneSymbol: BRDT
pdb: 2RFJ;4FLP;4KCX;5VBQ;5VBR;
name: Bromodomain testis-specific protein (Cancer/testis antigen 9) (CT9) (RING3-like protein)
length: 947
go: ENSG00000137948;
sequence:

opentargets:
nucleus [GO:0005634]; histone binding [GO:0042393]; lysine-acetylated histone binding [GO:0070577]; transcription coactivator activity [GO:0003713]; cell differentiation [GO:0030154]; chromatin remodeling [GO:0006338]; histone displacement [GO:0001207]; male meiosis I [GO:0007141]; male meiotic nuclear division [GO:0007140]; mRNA processing [GO:0006397]; positive regulation of transcription involved in meiotic cell cycle [GO:0051039]; regulation of RNA splicing [GO:0043484]; regulation of transcription, DNA-templated [GO:0006355]; RNA splicing [GO:0008380]; spermatogenesis [GO:0007283]

snps:
rs55806733 rs56273490 rs10783071 rs781375003 rs1156281 rs1064567 rs34674879 rs3088232 rs55912588 rs35327986 rs10747493 rs754258809 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q58F21-1; Sequence=Displayed; Name=2; Synonyms=BRDT-NY; IsoId=Q58F21-2; Sequence=VSP_019118; Name=3; IsoId=Q58F21-3; Sequence=VSP_044511; Name=4; IsoId=Q58F21-4; Sequence=VSP_044510; Name=5; IsoId=Q58F21-5; Sequence=VSP_044509; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20538714, ECO:0000269|PubMed:22901802, ECO:0000269|PubMed:22971749}. Note=Detected on chromatin. {ECO:0000250|UniProtKB:Q91Y44}.


uniprotID: Q6PL45
geneSymbol: BRICD5
name: BRICHOS domain-containing protein 5
length: 260
go: ENSG00000182685;
opentargets: extracellular space [GO:0005615]; integral component of membrane [GO:0016021]
snps: rs26856 rs26857 rs58292351
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6PL45-1; Sequence=Displayed; Name=2; IsoId=Q6PL45-2; Sequence=VSP_024411; 


uniprotID: P62633
geneSymbol: CNBP
name: Cellular nucleic acid-binding protein (CNBP) (Zinc finger protein 9)
length: 177
go: ENSG00000169714;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Endoplasmic reticulum {ECO:0000250}.
sequence:
MSSNECFKCGRSGHWARECPTGGGRGRGMRSRGRGGFTSDRGFQFVSSSLPDICYRCGESGHLAKDCDLQEDACYNCGRGGHIAKDCKEPKREREQCCYNCGKPGHLARDCDHADEQKCYSCGEFGHIQKDCTKVKCYRCGETGHVAINCSKTSEVNCYRCGESGHLARECTIEATA

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; RNA binding [GO:0003723]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; single-stranded DNA binding [GO:0003697]; single-stranded RNA binding [GO:0003727]; zinc ion binding [GO:0008270]; cholesterol biosynthetic process [GO:0006695]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of cell proliferation [GO:0008284]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; IsoId=P62633-1; Sequence=Displayed; Name=2; IsoId=P62633-2; Sequence=VSP_010981; Name=3; IsoId=P62633-3; Sequence=VSP_010982; Name=4; IsoId=P62633-4; Sequence=VSP_043304; Name=5; IsoId=P62633-5; Sequence=VSP_010981, VSP_043424; Note=No experimental confirmation available. {ECO:0000244|PubMed:24129315}; Name=6; IsoId=P62633-6; Sequence=VSP_043424; Note=No experimental confirmation available.; Name=7; IsoId=P62633-7; Sequence=VSP_055084; Note=No experimental confirmation available.; Name=8; IsoId=P62633-8; Sequence=VSP_010981, VSP_043304; 


uniprotID: P51587
geneSymbol: BRCA2
reactome: R-HSA-5685942;R-HSA-5693554;R-HSA-5693568;R-HSA-5693579;R-HSA-5693616;R-HSA-912446;
pdb: 1N0W;3EU7;
name: Breast cancer type 2 susceptibility protein (Fanconi anemia group D1 protein)
length: 3418
sequence:

opentargets:
BRCA2-MAGE-D1 complex [GO:0033593]; centrosome [GO:0005813]; cytosol [GO:0005829]; lateral element [GO:0000800]; nuclear chromosome, telomeric region [GO:0000784]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; secretory granule [GO:0030141]; gamma-tubulin binding [GO:0043015]; H3 histone acetyltransferase activity [GO:0010484]; H4 histone acetyltransferase activity [GO:0010485]; identical protein binding [GO:0042802]; protease binding [GO:0002020]; protein C-terminus binding [GO:0008022]; single-stranded DNA binding [GO:0003697]; brain development [GO:0007420]; cell aging [GO:0007569]; centrosome duplication [GO:0051298]; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator [GO:0006978]; DNA synthesis involved in double-strand break repair via homologous recombination [GO:0043150]; double-strand break repair [GO:0006302]; double-strand break repair via homologous recombination [GO:0000724]; establishment of protein localization to telomere [GO:0070200]; female gonad development [GO:0008585]; hemopoiesis [GO:0030097]; histone H3 acetylation [GO:0043966]; histone H4 acetylation [GO:0043967]; homologous chromosome orientation involved in meiotic metaphase I plate congression [GO:0031619]; inner cell mass cell proliferation [GO:0001833]; intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:0042771]; male meiosis I [GO:0007141]; mammary gland development [GO:0030879]; meiotic DNA repair synthesis involved in reciprocal meiotic recombination [GO:0010778]; meiotic recombination checkpoint [GO:0051598]; mitotic cytokinesis [GO:0000281]; mitotic recombination-dependent replication fork processing [GO:1990426]; multicellular organism growth [GO:0035264]; negative regulation of mammary gland epithelial cell proliferation [GO:0033600]; nucleotide-excision repair [GO:0006289]; oocyte maturation [GO:0001556]; positive regulation of mitotic cell cycle [GO:0045931]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of cytokinesis [GO:0032465]; replication fork protection [GO:0048478]; response to estradiol [GO:0032355]; response to gamma radiation [GO:0010332]; response to nutrient [GO:0007584]; response to UV-C [GO:0010225]; response to X-ray [GO:0010165]; spermatogenesis [GO:0007283]; telomere maintenance via recombination [GO:0000722]

snps:
rs4987046 rs28897701 rs766173 rs79483201 rs11571640 rs28897706 rs144848 rs56403624 rs28897708 rs28897709 rs80358457 rs28897710 rs1046984 rs80358487 rs11571653 rs2227943 rs28897716 rs11571656 rs28897717 rs2227944 rs1799944 rs1799951 rs41293485 rs70953664 rs28897727 rs28897728 rs28897729 rs2219594 rs28897731 rs80358755 rs80358765 rs11571657 rs4987048 rs4987117 rs79538375 rs28897737 rs1799954 rs56191579 rs34309943 rs55794205 rs55953736 rs11571659 rs11571660 rs28897742 rs28897743 rs28897743 rs4986860 rs4986859 rs80358965 rs11571707 rs28897744 rs28897746 rs28897749 rs80359065 rs28897751 rs11571746 rs11571747 rs4987047 rs28897754 rs11571769 rs59004709 rs28897755 rs41293521 rs28897758 rs80359228 rs11571831 rs56309455 rs1801426 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24013206, ECO:0000305|PubMed:21276791}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:21276791}.


uniprotID: Q15021
geneSymbol: NCAPD2
reactome: R-HSA-2514853;
length: 1401
go: ENSG00000010292;
snps: rs714774 rs17725914 rs10849482 rs2240871
name:
Condensin complex subunit 1 (Chromosome condensation-related SMC-associated protein 1) (Chromosome-associated protein D2) (hCAP-D2) (Non-SMC condensin I complex subunit D2) (XCAP-D2 homolog)

sequence:

opentargets:
condensed chromosome [GO:0000793]; condensed chromosome, centromeric region [GO:0000779]; condensin complex [GO:0000796]; condensin core heterodimer [GO:0000797]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; nuclear condensin complex [GO:0000799]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; histone binding [GO:0042393]; cell division [GO:0051301]; chromosome separation [GO:0051304]; meiotic chromosome condensation [GO:0010032]; mitotic chromosome condensation [GO:0007076]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10958694}. Cytoplasm {ECO:0000269|PubMed:10958694}. Chromosome {ECO:0000269|PubMed:10958694}. Note=In interphase cells, the majority of the condensin complex is found in the cytoplasm, while a minority of the complex is associated with chromatin. A subpopulation of the complex however remains associated with chromosome foci in interphase cells. During mitosis, most of the condensin complex is associated with the chromatin. At the onset of prophase, the regulatory subunits of the complex are phosphorylated by CDK1, leading to condensin's association with chromosome arms and to chromosome condensation. Dissociation from chromosomes is observed in late telophase.


uniprotID: P42695
geneSymbol: NCAPD3
reactome: R-HSA-2299718;
name: Condensin-2 complex subunit D3 (Non-SMC condensin II complex subunit D3) (hCAP-D3)
length: 1498
go: ENSG00000151503;
snps: rs12292394 rs34739733 rs7927108
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14532007}.
sequence:

opentargets:
condensed chromosome, centromeric region [GO:0000779]; membrane [GO:0016020]; nuclear condensin complex [GO:0000799]; nuclear pericentric heterochromatin [GO:0031618]; nucleoplasm [GO:0005654]; chromatin binding [GO:0003682]; histone binding [GO:0042393]; methylated histone binding [GO:0035064]; cell division [GO:0051301]; chromosome separation [GO:0051304]; meiotic chromosome condensation [GO:0010032]; mitotic chromosome condensation [GO:0007076]


uniprotID: P25440
geneSymbol: BRD2
reactome: R-HSA-8951936;
name: Bromodomain-containing protein 2 (O27.1.1) (Really interesting new gene 3 protein)
length: 801
go: ENSG00000204256;
snps: rs3918144 rs55669504 rs35952031 rs176250 rs35294809 rs3918143 rs1049369 rs34530779 rs55952113
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}. Note=Detected on chromatin and nucleosomes.
pdb:
1X0J;2DVQ;2DVR;2DVS;2DVV;2E3K;2G4A;2YDW;2YEK;3AQA;3ONI;4A9E;4A9F;4A9H;4A9I;4A9J;4A9M;4A9N;4A9O;4AKN;4ALG;4ALH;4J1P;4MR5;4MR6;4QEU;4QEV;4QEW;4UYF;4UYG;4UYH;5BT5;5DFB;5DFC;5DFD;5DW1;5EK9;5HEL;5HEM;5HEN;5HFQ;5IBN;5IG6;5N2L;5O38;5O39;5O3A;5O3B;5O3C;5O3D;5O3E;5O3F;5O3G;5O3H;5O3I;5U5S;5U6V;5UEW;5XHE;5XHK;

sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; chromatin binding [GO:0003682]; lysine-acetylated histone binding [GO:0070577]; nucleosome assembly [GO:0006334]; regulation of transcription by RNA polymerase II [GO:0006357]; spermatogenesis [GO:0007283]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P25440-1; Sequence=Displayed; Name=2; IsoId=P25440-2; Sequence=VSP_022600; Note=No experimental confirmation available.; Name=3; IsoId=P25440-3; Sequence=VSP_055029; Name=4; IsoId=P25440-4; Sequence=VSP_055028; 


uniprotID: O60477
geneSymbol: BRINP1
name: BMP/retinoic acid-inducible neural-specific protein 1 (Deleted in bladder cancer protein 1)
length: 761
go: ENSG00000078725;
snps: rs17476783 rs1043377
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11420708}.
sequence:

opentargets:
cytoplasm [GO:0005737]; dendrite [GO:0030425]; endoplasmic reticulum [GO:0005783]; neuronal cell body [GO:0043025]; behavioral fear response [GO:0001662]; cell cycle arrest [GO:0007050]; cell death [GO:0008219]; cellular response to retinoic acid [GO:0071300]; exploration behavior [GO:0035640]; maternal behavior [GO:0042711]; negative regulation of cell cycle [GO:0045786]; negative regulation of mitotic cell cycle [GO:0045930]; negative regulation of neurogenesis [GO:0050768]; positive regulation of neuron differentiation [GO:0045666]; short-term memory [GO:0007614]; social behavior [GO:0035176]; vocalization behavior [GO:0071625]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O60477-1; Sequence=Displayed; Name=2; IsoId=O60477-2; Sequence=VSP_017022, VSP_017023; Note=No experimental confirmation available.; Name=3; IsoId=O60477-3; Sequence=VSP_017021; Note=No experimental confirmation available.; 


uniprotID: Q15059
geneSymbol: BRD3
pdb: 2E7N;2NXB;2OO1;2YW5;3S91;3S92;5A7C;5HFR;5HJC;6BGG;6BGH;
name: Bromodomain-containing protein 3 (RING3-like protein)
length: 726
go: ENSG00000169925;
snps: rs34609592 rs36093130 rs56017928 rs55754444
sequence:

opentargets:
nucleus [GO:0005634]; chromatin binding [GO:0003682]; lysine-acetylated histone binding [GO:0070577]; chromatin organization [GO:0006325]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15059-1; Sequence=Displayed; Name=2; IsoId=Q15059-2; Sequence=VSP_010247, VSP_010248; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q8K2F0}. Note=Detected on chromatin. {ECO:0000250|UniProtKB:Q8K2F0}.


uniprotID: Q9BT09
geneSymbol: CNPY3
reactome: R-HSA-1679131;
length: 278
go: ENSG00000137161;
snps: rs1063252 rs9471969
location: SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000250}.
name:
Protein canopy homolog 3 (CTG repeat protein 4a) (Expanded repeat-domain protein CAG/CTG 5) (Protein associated with TLR4) (Trinucleotide repeat-containing gene 5 protein)

sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; signaling receptor binding [GO:0005102]; innate immune response [GO:0045087]; toll-like receptor signaling pathway [GO:0002224]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BT09-1; Sequence=Displayed; Name=2; IsoId=Q9BT09-2; Sequence=VSP_030132, VSP_030133; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q9UIR0
geneSymbol: BTNL2
reactome: R-HSA-8851680;
name: Butyrophilin-like protein 2 (BTL-II)
length: 455
go: ENSG00000204290;
sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; signaling receptor binding [GO:0005102]; regulation of immune response [GO:0050776]; T cell receptor signaling pathway [GO:0050852]

snps:
rs28362682 rs28362681 rs9461742 rs2076523 rs28362680 rs34423804 rs28362679 rs35037492 rs2076530 rs28362678 rs28362677 rs41521946 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q9UIR0-1; Sequence=Displayed; Name=2; Synonyms=Long; IsoId=Q9UIR0-2; Sequence=VSP_027186, VSP_027191; Name=3; Synonyms=Short; IsoId=Q9UIR0-3; Sequence=VSP_027186, VSP_027189, VSP_027190; Name=4; IsoId=Q9UIR0-4; Sequence=VSP_027185; Note=No experimental confirmation available. {ECO:0000305}; Name=5; IsoId=Q9UIR0-5; Sequence=VSP_027184; Note=No experimental confirmation available. {ECO:0000305}; Name=6; IsoId=Q9UIR0-6; Sequence=VSP_027187, VSP_027188; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:15735647}; Single-pass type II membrane protein {ECO:0000269|PubMed:15735647}. Note=Isoform 2 is present in the nuclear, vesicle and plasma membranes, isoform 3 is found in cytoplasmic vesicle structures and is not membrane bound.


uniprotID: Q6UXE8
geneSymbol: BTNL3
name: Butyrophilin-like protein 3 (Butyrophilin-like receptor)
length: 466
go: ENSG00000168903;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.
sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; signaling receptor binding [GO:0005102]; regulation of immune response [GO:0050776]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6UXE8-1; Sequence=Displayed; Name=2; IsoId=Q6UXE8-2; Sequence=VSP_012716, VSP_012717; Note=No experimental confirmation available.; 


uniprotID: O60566
geneSymbol: BUB1B
pdb: 2WVI;3SI5;4GGD;5JJA;5K6S;5KHU;5LCW;5SWF;
length: 1050
go: ENSG00000156970;
reactome:
R-HSA-141430;R-HSA-141444;R-HSA-174184;R-HSA-176409;R-HSA-179409;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-68877;

name:
Mitotic checkpoint serine/threonine-protein kinase BUB1 beta (EC 2.7.11.1) (MAD3/BUB1-related protein kinase) (hBUBR1) (Mitotic checkpoint kinase MAD3L) (Protein SSK1)

sequence:

opentargets:
anaphase-promoting complex [GO:0005680]; condensed chromosome kinetochore [GO:0000777]; condensed chromosome outer kinetochore [GO:0000940]; condensed nuclear chromosome kinetochore [GO:0000778]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; kinetochore [GO:0000776]; microtubule organizing center [GO:0005815]; perinuclear region of cytoplasm [GO:0048471]; spindle [GO:0005819]; ATP binding [GO:0005524]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; anaphase-promoting complex-dependent catabolic process [GO:0031145]; apoptotic process [GO:0006915]; cell division [GO:0051301]; cell proliferation [GO:0008283]; meiotic sister chromatid cohesion, centromeric [GO:0051754]; metaphase/anaphase transition of mitotic cell cycle [GO:0007091]; mitotic cell cycle [GO:0000278]; mitotic cell cycle checkpoint [GO:0007093]; mitotic spindle assembly checkpoint [GO:0007094]; protein localization to chromosome, centromeric region [GO:0071459]

snps:
rs1392369693 rs534297115 rs56079734 rs1801376 rs17851677 rs1017842 rs28989187 rs1801528 rs28989182 rs28989181 rs28989184 rs28989183 rs28989185 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O60566-1; Sequence=Displayed; Name=2; IsoId=O60566-2; Sequence=VSP_036474, VSP_036475, VSP_036476; Note=No experimental confirmation available.; Name=3; IsoId=O60566-3; Sequence=VSP_036473; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Cytoplasmic in interphase cells. Associates with the kinetochores in early prophase. Kinetochore localization requires BUB1, PLK1 and KNL1.


uniprotID: O43684
geneSymbol: BUB3
name: Mitotic checkpoint protein BUB3
length: 328
go: ENSG00000154473;
reactome:
R-HSA-141430;R-HSA-141444;R-HSA-174184;R-HSA-176409;R-HSA-179409;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-68877;

sequence:

opentargets:
bub1-bub3 complex [GO:1990298]; condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; kinetochore [GO:0000776]; mitotic checkpoint complex [GO:0033597]; nucleoplasm [GO:0005654]; ubiquitin binding [GO:0043130]; anaphase-promoting complex-dependent catabolic process [GO:0031145]; attachment of spindle microtubules to kinetochore [GO:0008608]; cell division [GO:0051301]; meiotic cell cycle [GO:0051321]; mitotic sister chromatid segregation [GO:0000070]; mitotic spindle assembly checkpoint [GO:0007094]; protein localization to kinetochore [GO:0034501]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43684-1; Sequence=Displayed; Name=2; IsoId=O43684-2; Sequence=VSP_038655; 

location:
SUBCELLULAR LOCATION: Nucleus. Chromosome, centromere, kinetochore {ECO:0000250}. Note=Starts to localize at kinetochores in prometaphase I (Pro-MI) stage and maintains the localization until the metaphase I-anaphase I (MI-AI) transition. {ECO:0000250}.


uniprotID: O43683
geneSymbol: BUB1
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-68877;
pdb: 2LAH;4A1G;4QPM;4R8Q;5DMZ;
name: Mitotic checkpoint serine/threonine-protein kinase BUB1 (hBUB1) (EC 2.7.11.1) (BUB1A)
length: 1085
go: ENSG00000169679;
snps: rs35890336 rs1801328 rs121909055 rs36109304 rs376649190
sequence:

opentargets:
condensed chromosome kinetochore [GO:0000777]; condensed nuclear chromosome kinetochore [GO:0000778]; condensed nuclear chromosome outer kinetochore [GO:0000942]; cytosol [GO:0005829]; kinetochore [GO:0000776]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; ATP binding [GO:0005524]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; apoptotic process [GO:0006915]; cell division [GO:0051301]; cell proliferation [GO:0008283]; meiotic sister chromatid cohesion, centromeric [GO:0051754]; mitotic cell cycle checkpoint [GO:0007093]; mitotic spindle assembly checkpoint [GO:0007094]; regulation of chromosome segregation [GO:0051983]; regulation of sister chromatid cohesion [GO:0007063]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O43683-1; Sequence=Displayed; Name=2; IsoId=O43683-2; Sequence=VSP_054761; Note=No experimental confirmation available. Gene prediction based on EST data.; Name=3; IsoId=O43683-3; Sequence=VSP_054760; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Nucleus. Chromosome, centromere, kinetochore. Note=Nuclear in interphase cells. Accumulates gradually during G1 and S phase of the cell cycle, peaks at G2/M, and drops dramatically after mitosis. Localizes to the outer kinetochore. Kinetochore localization is required for normal mitotic timing and checkpoint response to spindle damage and occurs very early in prophase. AURKB, KNL1 and INCENP are required for kinetochore localization (By similarity). {ECO:0000250}.


uniprotID: Q9UBR1
geneSymbol: UPB1
reactome: R-HSA-73621;
length: 384
go: ENSG00000100024;
snps: rs34035085 rs34110964
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Beta-ureidopropionase (EC 3.5.1.6) (BUP-1) (Beta-alanine synthase) (N-carbamoyl-beta-alanine amidohydrolase)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; beta-ureidopropionase activity [GO:0003837]; metal ion binding [GO:0046872]; beta-alanine biosynthetic process via 3-ureidopropionate [GO:0033396]; beta-alanine metabolic process [GO:0019482]; pyrimidine nucleoside catabolic process [GO:0046135]


uniprotID: Q9Y6E2
geneSymbol: BZW2
name: Basic leucine zipper and W2 domain-containing protein 2
length: 419
go: ENSG00000136261;
snps: rs35233079
sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; cadherin binding [GO:0045296]; cell differentiation [GO:0030154]; nervous system development [GO:0007399]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y6E2-1; Sequence=Displayed; Name=2; IsoId=Q9Y6E2-2; Sequence=VSP_055568, VSP_055569; Note=No experimental confirmation available.; 


uniprotID: Q99622
geneSymbol: C12orf57
name: Protein C10
length: 126
go: ENSG00000111678;
snps: rs587776955
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23453666}.
sequence:
MASASTQPAALSAEQAKVVLAEVIQAFSAPENAVRMDEARDNACNDMGKMLQFVLPVATQIQQEVIKAYGFSCDGEGVLKFARLVKSYEAQDPEIASLSGKLKALFLPPMTLPPHGPAAGGSVAAS

opentargets:
cytoplasm [GO:0005737]; nuclear speck [GO:0016607]; camera-type eye morphogenesis [GO:0048593]; cognition [GO:0050890]; corpus callosum morphogenesis [GO:0021540]; post-embryonic development [GO:0009791]; psychomotor behavior [GO:0036343]; regulation of skeletal muscle contraction [GO:0014819]; third ventricle development [GO:0021678]


uniprotID: O75973
geneSymbol: C1QL1
length: 258
go: ENSG00000131094;
location: SUBCELLULAR LOCATION: Secreted.
name:
C1q-related factor (C1q and tumor necrosis factor-related protein 14) (C1q/TNF-related protein 14) (Complement component 1 Q subcomponent-like 1)

sequence:

opentargets:
climbing fiber [GO:0044301]; collagen trimer [GO:0005581]; cytoplasm [GO:0005737]; presynapse [GO:0098793]; synaptic cleft [GO:0043083]; signaling receptor binding [GO:0005102]; locomotory behavior [GO:0007626]; maintenance of synapse structure [GO:0099558]; motor learning [GO:0061743]; neuron remodeling [GO:0016322]


uniprotID: Q9BXJ4
geneSymbol: C1QTNF3
length: 246
go: ENSG00000082196;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Complement C1q tumor necrosis factor-related protein 3 (Collagenous repeat-containing sequence 26 kDa protein) (CORS26) (Secretory protein CORS26)

sequence:

opentargets:
cell [GO:0005623]; collagen trimer [GO:0005581]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; cellular triglyceride homeostasis [GO:0035356]; fat cell differentiation [GO:0045444]; negative regulation of gene expression [GO:0010629]; negative regulation of gluconeogenesis [GO:0045721]; negative regulation of inflammatory response [GO:0050728]; negative regulation of interleukin-6 secretion [GO:1900165]; negative regulation of monocyte chemotactic protein-1 production [GO:0071638]; negative regulation of NIK/NF-kappaB signaling [GO:1901223]; positive regulation of adiponectin secretion [GO:0070165]; positive regulation of cytokine secretion [GO:0050715]; protein trimerization [GO:0070206]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BXJ4-1; Sequence=Displayed; Name=2; IsoId=Q9BXJ4-2; Sequence=VSP_011624, VSP_011625; Note=No experimental confirmation available.; Name=3; IsoId=Q9BXJ4-3; Sequence=VSP_043157; 


uniprotID: Q9BXJ3
geneSymbol: C1QTNF4
name: Complement C1q tumor necrosis factor-related protein 4
length: 329
go: ENSG00000172247;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:21658842}.
sequence:

opentargets:
extracellular space [GO:0005615]; cytokine activity [GO:0005125]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of interleukin-6 secretion [GO:2000778]; positive regulation of interleukin-6-mediated signaling pathway [GO:0070105]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; positive regulation of tumor necrosis factor secretion [GO:1904469]


uniprotID: P02746
geneSymbol: C1QB
reactome: R-HSA-166663;R-HSA-173623;R-HSA-977606;
pdb: 1PK6;2JG8;2JG9;2WNU;2WNV;5HKJ;5HZF;6FCZ;
name: Complement C1q subcomponent subunit B
length: 253
go: ENSG00000173369;
snps: rs776292843
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
blood microparticle [GO:0072562]; collagen trimer [GO:0005581]; collagen-containing extracellular matrix [GO:0062023]; complement component C1 complex [GO:0005602]; extracellular region [GO:0005576]; protein homodimerization activity [GO:0042803]; serine-type endopeptidase activity [GO:0004252]; complement activation [GO:0006956]; complement activation, classical pathway [GO:0006958]; innate immune response [GO:0045087]; inner ear development [GO:0048839]; regulation of complement activation [GO:0030449]

drug:
DB00054;DB00051;DB00092;DB00087;DB00074;DB00112;DB00002;DB00111;DB00095;DB00005;DB00056;DB00078;DB00075;DB00108;DB00110;DB00073;DB00081;DB00072;


uniprotID: Q9BXJ2
geneSymbol: C1QTNF7
name: Complement C1q tumor necrosis factor-related protein 7
length: 289
go: ENSG00000163145;
opentargets: collagen trimer [GO:0005581]; extracellular region [GO:0005576]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BXJ2-1; Sequence=Displayed; Name=2; IsoId=Q9BXJ2-2; Sequence=VSP_046778; Note=Gene prediction based on EST data.; 


uniprotID: P60827
geneSymbol: C1QTNF8
name: Complement C1q tumor necrosis factor-related protein 8 (C1q/TNF-related protein 8) (CTRP8)
length: 252
go: ENSG00000184471;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:19666007, ECO:0000269|PubMed:24014093}.
sequence:

opentargets:
collagen trimer [GO:0005581]; extracellular region [GO:0005576]; positive regulation of cell motility [GO:2000147]


uniprotID: Q5VWW1
geneSymbol: C1QL3
length: 255
go: ENSG00000165985;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
name:
Complement C1q-like protein 3 (C1q and tumor necrosis factor-related protein 13) (C1q/TNF-related protein 13)

sequence:

opentargets:
collagen trimer [GO:0005581]; extracellular region [GO:0005576]; identical protein binding [GO:0042802]; regulation of synapse organization [GO:0050807]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5VWW1-1; Sequence=Displayed; Name=2; IsoId=Q5VWW1-2; Sequence=VSP_027130; Name=3; IsoId=Q5VWW1-3; Sequence=VSP_027130, VSP_027131; 


uniprotID: P00736
geneSymbol: C1R
reactome: R-HSA-166663;R-HSA-173623;R-HSA-977606;
pdb: 1APQ;1GPZ;1MD7;1MD8;2QY0;6F1C;6F1D;6F1H;6F39;
length: 705
snps: rs1801046 rs1126605 rs4519167 rs3813728
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:27745832}.
name:
Complement C1r subcomponent (EC 3.4.21.41) (Complement component 1 subcomponent r) [Cleaved into: Complement C1r subcomponent heavy chain; Complement C1r subcomponent light chain]

sequence:

opentargets:
blood microparticle [GO:0072562]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; calcium ion binding [GO:0005509]; serine-type endopeptidase activity [GO:0004252]; serine-type peptidase activity [GO:0008236]; complement activation [GO:0006956]; complement activation, classical pathway [GO:0006958]; immune response [GO:0006955]; innate immune response [GO:0045087]; regulation of complement activation [GO:0030449]; zymogen activation [GO:0031638]

drug:
DB00054;DB00051;DB00092;DB00087;DB00074;DB00112;DB06404;DB09228;DB00002;DB00111;DB00095;DB00005;DB00056;DB00078;DB00075;DB00108;DB00110;DB00073;DB00081;DB00072;


uniprotID: Q4G0S4
geneSymbol: CYP27C1
name: Cytochrome P450 27C1 (EC 1.14.19.53) (All-trans retinol 3,4-desaturase)
length: 372
go: ENSG00000186684;
snps: rs35075135
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}.
sequence:

opentargets:
intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; 11-cis retinal binding [GO:0005502]; 11-cis-retinal 3,4-desaturase activity [GO:0061899]; all-trans retinal 3,4-desaturase activity [GO:0061897]; all-trans retinal binding [GO:0005503]; all-trans retinoic acid 3,4-desaturase activity [GO:0061898]; all-trans retinol 3,4-desaturase activity [GO:0061896]; all-trans-retinol binding [GO:1904768]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; monooxygenase activity [GO:0004497]; retinoic acid binding [GO:0001972]; retinal metabolic process [GO:0042574]; retinoic acid metabolic process [GO:0042573]; retinol metabolic process [GO:0042572]


uniprotID: Q6DHV5
geneSymbol: CC2D2B
name: Protein CC2D2B
length: 1058
go: ENSG00000188649;
snps: rs17383738 rs9943393 rs1336459
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=3; IsoId=Q6DHV5-3; Sequence=Displayed; Name=1; IsoId=Q6DHV5-1; Sequence=VSP_058934, VSP_058935; Name=2; IsoId=Q6DHV5-2; Sequence=VSP_058934, VSP_058935, VSP_044457; Note=No experimental confirmation available.; Name=4; IsoId=Q6DHV5-4; Sequence=VSP_058929, VSP_058930, VSP_058931, VSP_058932, VSP_058933; 


uniprotID: B7Z1M9
geneSymbol: C2CD4D
name: C2 calcium-dependent domain-containing protein 4D
length: 353
sequence:


uniprotID: Q96HQ2
geneSymbol: CDKN2AIPNL
name: CDKN2AIP N-terminal-like protein (CDKN2A-interacting protein N-terminal-like protein)
length: 116
go: ENSG00000237190;
opentargets: nucleolus [GO:0005730]; nucleoplasm [GO:0005654]
sequence:
MVGGEAAAAVEELVSGVRQAADFAEQFRSYSESEKQWKARMEFILRHLPDYRDPPDGSGRLDQLLSLSMVWANHLFLGCSYNKDLLDKVMEMADGIEVEDLPQFTTRSELMKKHQS

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96HQ2-1; Sequence=Displayed; Name=2; IsoId=Q96HQ2-2; Sequence=VSP_032486; Note=No experimental confirmation available.; 


uniprotID: Q9NRR3
geneSymbol: CDC42SE2
name: CDC42 small effector protein 2 (Small effector of CDC42 protein 2)
sequence: MSEFWLCFNCCIAEQPQPKRRRRIDRSMIGEPTNFVHTAHVGSGDLFSGMNSVSSIQNQMQSKGGYGGGMPANVQMQLVDTKAG
length: 84
go: ENSG00000158985;
opentargets:
cell projection [GO:0042995]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; phagocytic cup [GO:0001891]; plasma membrane [GO:0005886]; Rho GTPase binding [GO:0017048]; structural molecule activity [GO:0005198]; phagocytosis [GO:0006909]; regulation of cell shape [GO:0008360]; regulation of Rho protein signal transduction [GO:0035023]; regulation of signal transduction [GO:0009966]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cell membrane; Lipid-anchor. Cell projection, phagocytic cup. Note=Recruited to the activated TCR prior actin polymerization. Localizes at the phagocytic cup of macrophages.


uniprotID: Q5VUE5
geneSymbol: C1orf53
name: Uncharacterized protein C1orf53
length: 145
go: ENSG00000203724;
sequence:
MAARQIWARTGAALCRQPSAAPPPAPLWVRAGFRQQLSLTLCPANEGNCGGSAPSTPGRPERAARPSVSEELTAAERQIAELHAAACAAGQLNYVDPATGYVVLTQIAHLQRGECCGSACRHCPYGQVNVKDPSKKKQFNSYFYV


uniprotID: Q8WWF1
geneSymbol: C1orf54
name: Uncharacterized protein C1orf54
length: 131
go: ENSG00000118292;
opentargets: extracellular region [GO:0005576]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MDVLFVAIFAVPLILGQEYEDEERLGEDEYYQVVYYYTVTPSYDDFSADFTIDYSIFESEDRLNRLDKDITEAIETTISLETARADHPKPVTVKPVTTEPSPDLNDAVSSLRSPIPLLLSCAFVQVGMYFM


uniprotID: O43570
geneSymbol: CA12
reactome: R-HSA-1475029;
pdb: 1JCZ;1JD0;4HT2;4KP5;4KP8;4Q0L;4QJ0;4QJO;4QJW;4WW8;5LL5;5LL9;5LLO;5LLP;5MSA;5MSB;
length: 354
go: ENSG00000074410;
drug: DB00562;DB08846;DB00999;DB00774;DB00909;
snps: rs267606694
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Carbonic anhydrase 12 (EC 4.2.1.1) (Carbonate dehydratase XII) (Carbonic anhydrase XII) (CA-XII) (Tumor antigen HOM-RCC-3.1.3)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; carbonate dehydratase activity [GO:0004089]; zinc ion binding [GO:0008270]; bicarbonate transport [GO:0015701]; chloride ion homeostasis [GO:0055064]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43570-1; Sequence=Displayed; Name=2; IsoId=O43570-2; Sequence=VSP_000772; 


uniprotID: P22223
geneSymbol: CDH3
reactome: R-HSA-418990;
pdb: 4OY9;4ZML;4ZMN;4ZMO;4ZMP;4ZMQ;4ZMT;4ZMV;4ZMW;4ZMX;4ZMY;4ZMZ;5JYL;5JYM;
name: Cadherin-3 (Placental cadherin) (P-cadherin)
length: 829
go: ENSG00000062038;
snps: rs17854171 rs121434543 rs34494880 rs121434542 rs1126933
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
sequence:

opentargets:
catenin complex [GO:0016342]; cell surface [GO:0009986]; cell-cell adherens junction [GO:0005913]; cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; cadherin binding [GO:0045296]; calcium ion binding [GO:0005509]; cytoskeletal protein binding [GO:0008092]; protein homodimerization activity [GO:0042803]; adherens junction organization [GO:0034332]; calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0016339]; cell adhesion [GO:0007155]; cell-cell adhesion [GO:0098609]; cell-cell adhesion mediated by cadherin [GO:0044331]; cell-cell junction assembly [GO:0007043]; hair cycle process [GO:0022405]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; keratinization [GO:0031424]; negative regulation of timing of catagen [GO:0051796]; negative regulation of transforming growth factor beta2 production [GO:0032912]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of gene expression [GO:0010628]; positive regulation of insulin-like growth factor receptor signaling pathway [GO:0043568]; positive regulation of keratinocyte proliferation [GO:0010838]; positive regulation of melanin biosynthetic process [GO:0048023]; positive regulation of melanosome transport [GO:1902910]; positive regulation of monophenol monooxygenase activity [GO:0032773]; regulation of hair cycle by canonical Wnt signaling pathway [GO:0060901]; response to drug [GO:0042493]; retina homeostasis [GO:0001895]; visual perception [GO:0007601]; wound healing [GO:0042060]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P22223-1; Sequence=Displayed; Name=2; IsoId=P22223-2; Sequence=VSP_024820; Note=No experimental confirmation available.; 


uniprotID: Q15131
geneSymbol: CDK10
length: 360
go: ENSG00000185324;
snps: rs55819627 rs56340740 rs55757604 rs56242003
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:27104747}.
name:
Cyclin-dependent kinase 10 (EC 2.7.11.22) (Cell division protein kinase 10) (Serine/threonine-protein kinase PISSLRE)

sequence:

opentargets:
ciliary basal body [GO:0036064]; cytoplasm [GO:0005737]; nucleus [GO:0005634]; ATP binding [GO:0005524]; cyclin-dependent protein serine/threonine kinase activity [GO:0004693]; protein serine/threonine kinase activity [GO:0004674]; cell projection organization [GO:0030030]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cilium assembly [GO:1902018]; peptidyl-threonine phosphorylation [GO:0018107]; positive regulation of MAPK cascade [GO:0043410]; protein phosphorylation [GO:0006468]; regulation of actin cytoskeleton organization [GO:0032956]; traversing start control point of mitotic cell cycle [GO:0007089]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q15131-1; Sequence=Displayed; Name=2; IsoId=Q15131-2; Sequence=VSP_021642; Note=No experimental confirmation available.; Name=3; IsoId=Q15131-3; Sequence=VSP_021642, VSP_021643; Name=4; IsoId=Q15131-4; Sequence=VSP_021642, VSP_021644; Name=5; IsoId=Q15131-5; Sequence=VSP_054969, VSP_054972, VSP_054973; Note=No experimental confirmation available.; Name=6; IsoId=Q15131-6; Sequence=VSP_054969, VSP_054970, VSP_054971; Note=No experimental confirmation available.; Name=7; IsoId=Q15131-7; Sequence=VSP_021642, VSP_054972; Note=No experimental confirmation available.; 


uniprotID: Q6HA08
geneSymbol: ASTL
name: Astacin-like metalloendopeptidase (EC 3.4.-.-) (Oocyte astacin) (Ovastacin)
length: 431
go: ENSG00000188886;
snps: rs41320144 rs749458 rs1657502
sequence:

opentargets:
cortical granule [GO:0060473]; cytoplasm [GO:0005737]; plasma membrane [GO:0005886]; transport vesicle [GO:0030133]; aspartic-type peptidase activity [GO:0070001]; glutamic-type peptidase activity [GO:0070002]; metalloendopeptidase activity [GO:0004222]; peptidase activity [GO:0008233]; zinc ion binding [GO:0008270]; cell adhesion [GO:0007155]; fertilization [GO:0009566]; negative regulation of binding of sperm to zona pellucida [GO:2000360]; positive regulation of protein processing [GO:0010954]; prevention of polyspermy [GO:0060468]; proteolysis [GO:0006508]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell membrane {ECO:0000250}. Cytoplasmic granule {ECO:0000250}. Cytoplasmic vesicle, secretory vesicle {ECO:0000250}. Note=Secretory granules. Localizes to the peripheral cortical granules of ovulated eggs. Probably exocytosed from cortical granules during post-fertilization. Detected throughout the ooplasm of germinal vesicle stage oocytes in early bilaminar secondary follicles shortly after birth. Detected in the microvillar domain of the oolemma in arrested ovulated secondary oocytes and in the first polar body prior to fertilization. Upon fertilization, detected in the perivitelline space (PVS). Colocalizes with SPACA3 at the microvillar domain of the oolemma and in the perivitelline space (PVS) (By similarity). {ECO:0000250}.


uniprotID: Q9NTI2
geneSymbol: ATP8A2
reactome: R-HSA-936837;
length: 1188
go: ENSG00000132932;
snps: rs2296242
name:
Phospholipid-transporting ATPase IB (EC 7.6.2.1) (ATPase class I type 8A member 2) (ML-1) (P4-ATPase flippase complex alpha subunit ATP8A2)

sequence:

opentargets:
endosome [GO:0005768]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; nucleoplasm [GO:0005654]; photoreceptor outer segment [GO:0001750]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; phospholipid-translocating ATPase activity [GO:0004012]; aging [GO:0007568]; axonogenesis [GO:0007409]; detection of light stimulus involved in visual perception [GO:0050908]; eating behavior [GO:0042755]; inner ear morphogenesis [GO:0042472]; involuntary skeletal muscle contraction [GO:0003011]; negative regulation of cell proliferation [GO:0008285]; neurofilament cytoskeleton organization [GO:0060052]; neuromuscular process controlling posture [GO:0050884]; neuron development [GO:0048666]; phospholipid translocation [GO:0045332]; positive regulation of multicellular organism growth [GO:0040018]; positive regulation of neuron projection development [GO:0010976]; positive regulation of phospholipid translocation [GO:0061092]; response to auditory stimulus [GO:0010996]; retina layer formation [GO:0010842]; skin development [GO:0043588]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=3; IsoId=Q9NTI2-4; Sequence=Displayed; Note=No experimental confirmation available. {ECO:0000305}; Name=1; IsoId=Q9NTI2-1; Sequence=VSP_059718; Note=No experimental confirmation available. Gene prediction based on partial mRNA/EST data. {ECO:0000305}; Name=2; IsoId=Q9NTI2-3; Sequence=VSP_059718, VSP_059719, VSP_059720; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Golgi apparatus {ECO:0000269|PubMed:20947505}. Endosome {ECO:0000250}. Cell projection, cilium, photoreceptor outer segment {ECO:0000250}. Cell membrane {ECO:0000269|PubMed:20947505}. Note=Localizes to the Golgi and endosomes in photoreceptor cells. Localizes to disk membranes of rod photoreceptor outer segments (ROS) (By similarity). {ECO:0000250}.


uniprotID: Q9P241
geneSymbol: ATP10D
reactome: R-HSA-936837;
length: 1426
go: ENSG00000145246;
name:
Probable phospholipid-transporting ATPase VD (EC 7.6.2.1) (ATPase class V type 10D) (P4-ATPase flippase complex alpha subunit ATP10D)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; phospholipid-translocating ATPase activity [GO:0004012]; cation transport [GO:0006812]; ion transmembrane transport [GO:0034220]; phospholipid translocation [GO:0045332]

snps:
rs33995001 rs7683838 rs35596623 rs35012290 rs10003238 rs6843325 rs34208443 rs34169638 rs17462252 rs16851681 rs1058793 rs4145944 rs35375547 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P241-1; Sequence=Displayed; Name=2; IsoId=Q9P241-2; Sequence=VSP_006954; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21914794}; Multi-pass membrane protein {ECO:0000269|PubMed:21914794}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:21914794}. Note=Exit from the endoplasmic reticulum requires the presence of TMEM30A, but not that of TMEM30B.


uniprotID: Q9NT62
geneSymbol: ATG3
reactome: R-HSA-1632852;
pdb: 4NAW;
length: 314
go: ENSG00000144848;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11825910}.
name:
Ubiquitin-like-conjugating enzyme ATG3 (EC 2.3.2.-) (Autophagy-related protein 3) (APG3-like) (hApg3) (Protein PC3-96)

sequence:

opentargets:
cytoplasmic ubiquitin ligase complex [GO:0000153]; cytosol [GO:0005829]; Atg12 transferase activity [GO:0019777]; Atg8 ligase activity [GO:0019776]; enzyme binding [GO:0019899]; ubiquitin-like protein transferase activity [GO:0019787]; autophagosome assembly [GO:0000045]; autophagy of mitochondrion [GO:0000422]; cellular protein modification process [GO:0006464]; macroautophagy [GO:0016236]; mitochondrial fragmentation involved in apoptotic process [GO:0043653]; negative regulation of phagocytosis [GO:0050765]; protein targeting to membrane [GO:0006612]; protein ubiquitination [GO:0016567]; regulation of cilium assembly [GO:1902017]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NT62-1; Sequence=Displayed; Name=2; IsoId=Q9NT62-2; Sequence=VSP_013037; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: Q9H211
geneSymbol: CDT1
reactome: R-HSA-539107;R-HSA-68827;R-HSA-68867;R-HSA-68949;R-HSA-68962;
pdb: 2LE8;2WVR;
name: DNA replication factor Cdt1 (Double parked homolog) (DUP)
length: 546
go: ENSG00000167513;
sequence:

opentargets:
condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; kinetochore [GO:0000776]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA polymerase binding [GO:0070182]; attachment of mitotic spindle microtubules to kinetochore [GO:0051315]; cell division [GO:0051301]; chromosome segregation [GO:0007059]; deactivation of mitotic spindle assembly checkpoint [GO:1902426]; DNA replication [GO:0006260]; DNA replication checkpoint [GO:0000076]; DNA replication preinitiation complex assembly [GO:0071163]; G1/S transition of mitotic cell cycle [GO:0000082]; kinetochore organization [GO:0051383]; mitotic cell cycle [GO:0000278]; mitotic cytokinesis [GO:0000281]; negative regulation of protein localization to kinetochore [GO:1905341]; positive regulation of chromatin binding [GO:0035563]; positive regulation of DNA replication [GO:0045740]; positive regulation of DNA-dependent DNA replication [GO:2000105]; positive regulation of mediator complex assembly [GO:2001178]; positive regulation of protein complex assembly [GO:0031334]; positive regulation of protein localization to kinetochore [GO:1905342]; regulation of chromosome organization [GO:0033044]; regulation of DNA replication origin binding [GO:1902595]; regulation of DNA-dependent DNA replication initiation [GO:0030174]; regulation of nuclear cell cycle DNA replication [GO:0033262]; regulation of transcription involved in G1/S transition of mitotic cell cycle [GO:0000083]; response to sorbitol [GO:0072708]

snps:
rs387906918 rs779871947 rs3218725 rs3218727 rs507329 rs480727 rs200672589 rs3218729 rs387906917 rs200652608 rs3218721 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11125146, ECO:0000269|PubMed:26842564}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:22581055}. Note=Transiently localizes to kinetochores during prometaphase and metaphase. {ECO:0000269|PubMed:22581055}.


uniprotID: Q569G3
geneSymbol: C5orf47
name: Uncharacterized protein C5orf47
length: 176
go: ENSG00000185056;
sequence:
MAAAGRGREQDSARFVYVTRFGSHQCSGVLQLGGRGAQGLWGQGPGAGCRQEKPREAMAVAGVQGGSELPLGSQLRVPTTPGVEAAASASSQLRASRVQSGTRQSARAGLIQKDAAKKYDFPIPLNEASKIMKKKKKVLVWNRVYKVISRMLEENEKYRHRLKCQRLSSESSNYTR


uniprotID: O60308
geneSymbol: CEP104
pdb: 5LPH;5LPI;
name: Centrosomal protein of 104 kDa (Cep104)
length: 925
go: ENSG00000116198;
snps: rs2275824 rs2275831
sequence:

opentargets:
centriole [GO:0005814]; cilium [GO:0005929]; spindle pole [GO:0000922]; glutamate binding [GO:0016595]; glycine binding [GO:0016594]; thienylcyclohexylpiperidine binding [GO:0016596]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O60308-1; Sequence=Displayed; Name=2; IsoId=O60308-2; Sequence=VSP_014364, VSP_014365; Note=No experimental confirmation available.; Name=3; IsoId=O60308-3; Sequence=VSP_014366, VSP_014367; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000269|PubMed:23970417}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:21399614, ECO:0000269|PubMed:23970417}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:23970417}. Cytoplasm, cytoskeleton, spindle pole. Note=In interphase non-ciliated cells, localizes to the distal ends of both the mother and daughter centrioles. In ciliated cells, present at the distal end of the daughter centriole, but not on the mother centriole, and at the tip of primary cilium. Localization at the ciliary tip is also observed in motile cilia. Throughout S phase, associated with both mother and daughter centrioles in each centrosome. During metaphase and telophase, present at both spindle poles. {ECO:0000269|PubMed:23970417}.


uniprotID: Q8N960
geneSymbol: CEP120
pdb: 4ICW;4ICX;6FLJ;6FLK;
name: Centrosomal protein of 120 kDa (Cep120) (Coiled-coil domain-containing protein 100)
length: 986
go: ENSG00000168944;
snps: rs367600930 rs775080726 rs6595440 rs114280473 rs1047437 rs2303721 rs2303720
sequence:

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; protein C-terminus binding [GO:0008022]; astral microtubule organization [GO:0030953]; centrosome cycle [GO:0007098]; cerebral cortex development [GO:0021987]; interkinetic nuclear migration [GO:0022027]; neurogenesis [GO:0022008]; positive regulation of centriole elongation [GO:1903724]; positive regulation of centrosome duplication [GO:0010825]; positive regulation of cilium assembly [GO:0045724]; positive regulation of establishment of protein localization [GO:1904951]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N960-1; Sequence=Displayed; Name=2; IsoId=Q8N960-2; Sequence=VSP_035123; Name=3; IsoId=Q8N960-3; Sequence=VSP_035124, VSP_035125; 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.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843}. Note=Regulates the localization of TACC3 to the centrosome in neural progenitors in vivo. {ECO:0000250}.


uniprotID: Q9P2H0
geneSymbol: CEP126
name: Centrosomal protein of 126 kDa
length: 1117
snps: rs11225086 rs7926728 rs11225089 rs11225090 rs11225091 rs76022391 rs7109614 rs7111429 rs6590942
sequence:

opentargets:
centrosome [GO:0005813]; ciliary base [GO:0097546]; cytoplasm [GO:0005737]; midbody [GO:0030496]; cilium assembly [GO:0060271]; cytoplasmic microtubule organization [GO:0031122]; mitotic spindle organization [GO:0007052]; non-motile cilium assembly [GO:1905515]

location:
SUBCELLULAR LOCATION: Midbody {ECO:0000269|PubMed:19799413, ECO:0000269|PubMed:24867236}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:24867236}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:24867236}.


uniprotID: Q5SW79
geneSymbol: CEP170
pdb: 4JON;
name: Centrosomal protein of 170 kDa (Cep170) (KARP-1-binding protein) (KARP1-binding protein)
length: 1584
go: ENSG00000143702;
snps: rs2631092
sequence:

opentargets:
centriolar subdistal appendage [GO:0120103]; centriole [GO:0005814]; centrosome [GO:0005813]; cytosol [GO:0005829]; microtubule [GO:0005874]; plasma membrane [GO:0005886]; spindle [GO:0005819]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Alpha; IsoId=Q5SW79-1; Sequence=Displayed; Name=2; Synonyms=Gamma, 3; IsoId=Q5SW79-2; Sequence=VSP_024240, VSP_024241, VSP_024242; Name=3; Synonyms=Beta, KAB2; IsoId=Q5SW79-3; Sequence=VSP_024240; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:15616186, ECO:0000269|PubMed:23386061}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:15616186}. Note=Associated with the mature mother centriole. Associated with spindle microtubules during mitosis. Localizes to the distal appendage region of the centriole. {ECO:0000269|PubMed:23386061}.


uniprotID: Q2WEN9
geneSymbol: CEACAM16
name: Carcinoembryonic antigen-related cell adhesion molecule 16 (Carcinoembryonic antigen-like 2)
length: 425
go: ENSG00000213892;
snps: rs387907149 rs876661405
sequence:

opentargets:
extracellular space [GO:0005615]; stereocilium tip [GO:0032426]; identical protein binding [GO:0042802]; sensory perception of sound [GO:0007605]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:25589040}. Note=Localizes to the tip of cochlear outer hair cells and to the tectorial membrane. {ECO:0000250|UniProtKB:E9QA28}.


uniprotID: Q14002
geneSymbol: CEACAM7
reactome: R-HSA-163125;
pdb: 4Y89;
name: Carcinoembryonic antigen-related cell adhesion molecule 7 (Carcinoembryonic antigen CGM2)
length: 265
snps: rs8102488 rs16975478 rs7259532
sequence:

opentargets:
anchored component of membrane [GO:0031225]; apical plasma membrane [GO:0016324]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2a; IsoId=Q14002-1; Sequence=Displayed; Name=2b; IsoId=Q14002-2; Sequence=VSP_002488; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Lipid-anchor, GPI-anchor {ECO:0000305}. Apical cell membrane {ECO:0000269|PubMed:10436421}. Note=Localized to the apical glycocalyx surface. {ECO:0000269|PubMed:10436421}.


uniprotID: Q03701
geneSymbol: CEBPZ
length: 1054
go: ENSG00000115816;
snps: rs3213746 rs2098386 rs17020328 rs3180252
location: SUBCELLULAR LOCATION: Nucleus.
name:
CCAAT/enhancer-binding protein zeta (CCAAT-box-binding transcription factor) (CBF) (CCAAT-binding factor)

sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA binding [GO:0003723]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; positive regulation of transcription by RNA polymerase II [GO:0045944]; transcription by RNA polymerase II [GO:0006366]


uniprotID: O95813
geneSymbol: CER1
reactome: R-HSA-1181150;R-HSA-1433617;R-HSA-201451;
name: Cerberus (Cerberus-related protein) (DAN domain family member 4)
length: 267
go: ENSG00000147869;
snps: rs10115703 rs3747532 rs7036635
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; BMP binding [GO:0036122]; cytokine activity [GO:0005125]; morphogen activity [GO:0016015]; protein homodimerization activity [GO:0042803]; anterior/posterior axis specification [GO:0009948]; anterior/posterior pattern specification [GO:0009952]; BMP signaling pathway [GO:0030509]; bone mineralization [GO:0030282]; cell migration involved in gastrulation [GO:0042074]; cellular response to BMP stimulus [GO:0071773]; determination of dorsal identity [GO:0048263]; determination of heart left/right asymmetry [GO:0061371]; gastrulation [GO:0007369]; growth plate cartilage chondrocyte proliferation [GO:0003419]; negative regulation of activin receptor signaling pathway [GO:0032926]; negative regulation of BMP signaling pathway [GO:0030514]; negative regulation of cell proliferation [GO:0008285]; negative regulation of mesoderm development [GO:2000381]; negative regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry [GO:1900176]; nervous system development [GO:0007399]; sequestering of BMP in extracellular matrix [GO:0035582]; signal transduction involved in regulation of gene expression [GO:0023019]; ureteric bud development [GO:0001657]


uniprotID: Q9BQP9
geneSymbol: BPIFA3
length: 254
go: ENSG00000131059;
opentargets: extracellular region [GO:0005576]; lipid binding [GO:0008289]
snps: rs17124391 rs3818222
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
BPI fold-containing family A member 3 (Short palate, lung and nasal epithelium carcinoma-associated protein 3)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BQP9-1; Sequence=Displayed; Name=2; IsoId=Q9BQP9-2; Sequence=VSP_026471; Note=No experimental confirmation available.; 


uniprotID: Q8TDL5
geneSymbol: BPIFB1
reactome: R-HSA-6803157;
length: 484
go: ENSG00000125999;
snps: rs1078761 rs34578060 rs6141383 rs34548457 rs6120221 rs6120222 rs17856249 rs1999663
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
name:
BPI fold-containing family B member 1 (Long palate, lung and nasal epithelium carcinoma-associated protein 1) (von Ebner minor salivary gland protein) (VEMSGP)

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; lipid binding [GO:0008289]; antimicrobial humoral response [GO:0019730]; innate immune response in mucosa [GO:0002227]; negative regulation of toll-like receptor 4 signaling pathway [GO:0034144]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TDL5-1; Sequence=Displayed; Name=2; IsoId=Q8TDL5-2; Sequence=VSP_015285, VSP_015286, VSP_015287, VSP_015288; Note=No experimental confirmation available.; 


uniprotID: O14613
geneSymbol: CDC42EP2
reactome: R-HSA-5687128;
name: Cdc42 effector protein 2 (Binder of Rho GTPases 1)
length: 210
go: ENSG00000149798;
snps: rs4149839 rs7120634
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endomembrane system [GO:0012505]; membrane [GO:0016020]; microtubule cytoskeleton [GO:0015630]; phagocytic vesicle [GO:0045335]; plasma membrane [GO:0005886]; GTP-Rho binding [GO:0017049]; GTPase activator activity [GO:0005096]; opioid peptide activity [GO:0001515]; actin cytoskeleton organization [GO:0030036]; actin filament organization [GO:0007015]; cellular response to interferon-gamma [GO:0071346]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of protein complex assembly [GO:0031334]; positive regulation of pseudopodium assembly [GO:0031274]; regulation of cell shape [GO:0008360]; Rho protein signal transduction [GO:0007266]

location:
SUBCELLULAR LOCATION: Endomembrane system {ECO:0000269|PubMed:11035016}; Peripheral membrane protein {ECO:0000269|PubMed:11035016}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:11035016}.


uniprotID: P17213
geneSymbol: BPI
reactome: R-HSA-166016;R-HSA-6798695;R-HSA-6803157;
pdb: 1BP1;1EWF;
name: Bactericidal permeability-increasing protein (BPI) (CAP 57)
length: 487
go: ENSG00000101425;
drug: DB04178;
sequence:

opentargets:
azurophil granule lumen [GO:0035578]; cytoplasmic stress granule [GO:0010494]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; membrane [GO:0016020]; specific granule lumen [GO:0035580]; lipopolysaccharide binding [GO:0001530]; antibacterial humoral response [GO:0019731]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; antimicrobial humoral response [GO:0019730]; cellular response to lipopolysaccharide [GO:0071222]; defense response to Gram-negative bacterium [GO:0050829]; negative regulation of interleukin-6 production [GO:0032715]; negative regulation of interleukin-8 production [GO:0032717]; negative regulation of macrophage activation [GO:0043031]; negative regulation of tumor necrosis factor production [GO:0032720]; neutrophil degranulation [GO:0043312]

snps:
rs5743497 rs5743498 rs1341023 rs5743500 rs5743506 rs5743509 rs4358188 rs5741804 rs5743524 rs5741809 rs5743542 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:8812832}. Cytoplasmic granule membrane {ECO:0000269|PubMed:2722846}. Note=Membrane-associated in polymorphonuclear Leukocytes (PMN) granules. {ECO:0000269|PubMed:2722846}.


uniprotID: Q6NZY7
geneSymbol: CDC42EP5
reactome: R-HSA-5687128;
name: Cdc42 effector protein 5 (Binder of Rho GTPases 3)
length: 148
go: ENSG00000167617;
sequence:
MPVLKQLGPAQPKKRPDRGALSISAPLGDFRHTLHVGRGGDAFGDTSFLSRHGGGPPPEPRAPPAGAPRSPPPPAVPQSAAPSPADPLLSFHLDLGPSMLDAVLGVMDAARPEAAAAKPDAEPRPGTQPPQARCRPNADLELNDVIGL

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; endomembrane system [GO:0012505]; membrane [GO:0016020]; plasma membrane [GO:0005886]; GTP-Rho binding [GO:0017049]; JNK cascade [GO:0007254]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of pseudopodium assembly [GO:0031274]; regulation of cell shape [GO:0008360]; Rho protein signal transduction [GO:0007266]

location:
SUBCELLULAR LOCATION: Endomembrane system {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}.


uniprotID: Q8IYT2
geneSymbol: CMTR2
length: 770
go: ENSG00000180917;
snps: rs3096380 rs17853360 rs3803704 rs3096381 rs16970857
name:
Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2 (EC 2.1.1.296) (Cap methyltransferase 2) (Cap2 2'O-ribose methyltransferase 2) (HMTr2) (MTr2) (FtsJ methyltransferase domain-containing protein 1) (Protein adrift homolog)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; mRNA (nucleoside-2'-O-)-methyltransferase activity [GO:0004483]; 7-methylguanosine mRNA capping [GO:0006370]; cap1 mRNA methylation [GO:0097309]; cap2 mRNA methylation [GO:0097310]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21310715}. Cytoplasm {ECO:0000269|PubMed:21310715}.


uniprotID: Q8N3K9
geneSymbol: CMYA5
length: 4069
go: ENSG00000164309;
name:
Cardiomyopathy-associated protein 5 (Dystrobrevin-binding protein 2) (Genethonin-3) (Myospryn) (SPRY domain-containing protein 2) (Tripartite motif-containing protein 76)

sequence:

opentargets:
M band [GO:0031430]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; sarcoplasmic reticulum [GO:0016529]

snps:
rs16877109 rs6895605 rs10942901 rs1366271 rs16877124 rs57544556 rs6893869 rs4704585 rs16877133 rs16877135 rs13158477 rs1428223 rs1428224 rs1019762 rs16877141 rs1428225 rs16877147 rs16877150 rs16877151 rs6859595 rs7721884 rs28362541 rs2278239 rs2278240 rs3828611 rs12514461 rs1129770 rs10043986 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:A0A286XF80}. Sarcoplasmic reticulum {ECO:0000250|UniProtKB:A0A286XF80}. Cytoplasm {ECO:0000250|UniProtKB:Q70KF4}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:A0A286XF80}. Cytoplasm, myofibril, sarcomere, M line {ECO:0000269|PubMed:20634290}. Note=Found predominantly at the periphery of the nucleus but also throughout the cell. Localized in lysosomes (By similarity). In skeletal muscles, localizes along myofiber periphery, at costameres (By similarity). Predominantly flanks Z-disks (By similarity). Occasionally present at the M-band level. Colocalized with RYR2 in the sarcoplasmic reticulum (By similarity). {ECO:0000250|UniProtKB:A0A286XF80}.


uniprotID: Q86U37
geneSymbol: LINC01551
name: Uncharacterized protein encoded by LINC01551
length: 167
sequence:
MELSSMKICAAIPTSRALPEVVRRMPRKRISGLEWLLQQDPGFSLVNTVKAGMIISFPSNNIYSSVCCCQSEIFKYEFSNSKKSSWIQEERHLGKNNVLYSAHDVSPEKVTSALKKTNKQTTTINNFPLQYLPGSKLLDRFLSLSRSLLCLNSWSSSLPLAPQVKKK


uniprotID: Q4W4Y0
geneSymbol: C14orf28
name: Uncharacterized protein C14orf28 (Dopamine receptor-interacting protein 1)
length: 310
go: ENSG00000179476;
sequence:


uniprotID: Q9H972
geneSymbol: C14orf93
name: Uncharacterized protein C14orf93
length: 538
go: ENSG00000100802;
opentargets: extracellular region [GO:0005576]; RNA binding [GO:0003723]
snps: rs3829409
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H972-1; Sequence=Displayed; Name=2; IsoId=Q9H972-2; Sequence=VSP_007850; Note=No experimental confirmation available.; 


uniprotID: A0A1B0GUI7
geneSymbol: BRD3OS
sequence: MSGRVPLAEKALSEGYARLRYRDTSLLIWQQQQQKLESVPPGTYLSRSRSMWYSQYGNEAILVRDKNKLEVSRDTGQSKFCTIM
length: 84
go: ENSG00000235106;
name:
Putative uncharacterized protein BRD3OS (BRD3 opposite strand protein) (Long intergenic non-protein coding RNA 94) (Non-protein coding RNA 94)


uniprotID: Q9HAW0
geneSymbol: BRF2
reactome: R-HSA-749476;R-HSA-76071;
pdb: 4ROC;4ROD;4ROE;5N9G;
length: 419
go: ENSG00000104221;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17505538}.
name:
Transcription factor IIIB 50 kDa subunit (TFIIIB50) (hTFIIIB50) (B-related factor 2) (BRF-2) (hBRFU)

sequence:

opentargets:
nucleoplasm [GO:0005654]; transcription factor TFIIIB complex [GO:0000126]; metal ion binding [GO:0046872]; RNA polymerase III type 3 promoter DNA binding [GO:0001032]; cellular response to oxidative stress [GO:0034599]; regulation of transcription by RNA polymerase III [GO:0006359]; transcription preinitiation complex assembly [GO:0070897]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HAW0-1; Sequence=Displayed; Name=2; IsoId=Q9HAW0-2; Sequence=VSP_056834; Note=No experimental confirmation available.; 


uniprotID: O75150
geneSymbol: RNF40
reactome: R-HSA-8866654;
length: 1001
go: ENSG00000103549;
snps: rs11556801 rs7195142
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10944455}.
name:
E3 ubiquitin-protein ligase BRE1B (BRE1-B) (EC 2.3.2.27) (95 kDa retinoblastoma-associated protein) (RBP95) (RING finger protein 40) (RING-type E3 ubiquitin transferase BRE1B)

sequence:

opentargets:
axon terminus [GO:0043679]; cytosol [GO:0005829]; extrinsic component of membrane [GO:0019898]; HULC complex [GO:0033503]; membrane [GO:0016020]; neuron projection [GO:0043005]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ubiquitin ligase complex [GO:0000151]; metal ion binding [GO:0046872]; mRNA 3'-UTR binding [GO:0003730]; protein homodimerization activity [GO:0042803]; protein-containing complex binding [GO:0044877]; syntaxin-1 binding [GO:0017075]; ubiquitin conjugating enzyme binding [GO:0031624]; ubiquitin protein ligase binding [GO:0031625]; ubiquitin-protein transferase activity [GO:0004842]; histone H2B ubiquitination [GO:0033523]; histone monoubiquitination [GO:0010390]; negative regulation of mRNA polyadenylation [GO:1900364]; positive regulation of histone H2B ubiquitination [GO:2001168]; positive regulation of proteasomal protein catabolic process [GO:1901800]; positive regulation of protein polyubiquitination [GO:1902916]; protein ubiquitination [GO:0016567]; response to peptide hormone [GO:0043434]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O75150-1; Sequence=Displayed; Name=3; IsoId=O75150-3; Sequence=VSP_016682, VSP_016683; Note=No experimental confirmation available.; Name=4; IsoId=O75150-4; Sequence=VSP_016681; Note=No experimental confirmation available.; 


uniprotID: Q9BRD0
geneSymbol: BUD13
pdb: 5Z56;5Z57;5Z58;6FF4;
name: BUD13 homolog
length: 619
go: ENSG00000137656;
snps: rs10488698 rs11820589 rs11216131 rs35004487
sequence:

opentargets:
nucleus [GO:0005634]; RES complex [GO:0070274]; U2-type spliceosomal complex [GO:0005684]; RNA binding [GO:0003723]; mRNA splicing, via spliceosome [GO:0000398]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BRD0-1; Sequence=Displayed; Name=2; IsoId=Q9BRD0-2; Sequence=VSP_025590; Note=No experimental confirmation available.; 


uniprotID: P15538
geneSymbol: CYP11B1
reactome: R-HSA-194002;R-HSA-211976;R-HSA-5579017;
length: 503
go: ENSG00000160882;
location: SUBCELLULAR LOCATION: Mitochondrion membrane.
name:
Cytochrome P450 11B1, mitochondrial (CYPXIB1) (Cytochrome P-450c11) (Cytochrome P450C11) (Steroid 11-beta-hydroxylase) (EC 1.14.15.4)

sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; corticosterone 18-monooxygenase activity [GO:0047783]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; steroid 11-beta-monooxygenase activity [GO:0004507]; aldosterone biosynthetic process [GO:0032342]; C21-steroid hormone biosynthetic process [GO:0006700]; cellular response to hormone stimulus [GO:0032870]; cellular response to peptide hormone stimulus [GO:0071375]; cellular response to potassium ion [GO:0035865]; cholesterol metabolic process [GO:0008203]; cortisol biosynthetic process [GO:0034651]; glucocorticoid biosynthetic process [GO:0006704]; glucose homeostasis [GO:0042593]; immune response [GO:0006955]; regulation of blood pressure [GO:0008217]; sterol metabolic process [GO:0016125]

drug:
DB04630;DB00501;DB00257;DB00292;DB00196;DB00741;DB01026;DB01233;DB01011;DB01388;DB01110;DB00648;DB00252;DB00421;

snps:
rs6405 rs193922538 rs104894069 rs4534 rs5282 rs193922539 rs104894070 rs772003869 rs772733691 rs757389720 rs104894067 rs267601810 rs140336749 rs142484434 rs370266763 rs5287 rs4539 rs34620645 rs5288 rs5291 rs5292 rs387907573 rs387907572 rs387907574 rs104894061 rs104894068 rs149881706 rs372115638 rs6407 rs773245244 rs104894071 rs368944209 rs104894062 rs764598023 rs4541 rs201300785 rs4998896 rs754432887 rs5294 rs772169059 rs779103938 rs28934586 rs750428278 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P15538-1; Sequence=Displayed; Name=2; IsoId=P15538-2; Sequence=VSP_043308; Note=No experimental confirmation available.; 


uniprotID: P0DN25
geneSymbol: C1GALT1C1L
name: C1GALT1-specific chaperone 1-like protein
length: 315
go: ENSG00000223658;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity [GO:0016263]; O-glycan processing, core 1 [GO:0016267]


uniprotID: P02745
geneSymbol: C1QA
reactome: R-HSA-166663;R-HSA-173623;R-HSA-977606;
pdb: 1PK6;2JG8;2JG9;2WNU;2WNV;5HKJ;5HZF;6FCZ;
name: Complement C1q subcomponent subunit A
length: 245
go: ENSG00000173372;
snps: rs17887074
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
collagen trimer [GO:0005581]; collagen-containing extracellular matrix [GO:0062023]; complement component C1 complex [GO:0005602]; extracellular region [GO:0005576]; serine-type endopeptidase activity [GO:0004252]; cell-cell signaling [GO:0007267]; complement activation [GO:0006956]; complement activation, classical pathway [GO:0006958]; innate immune response [GO:0045087]; regulation of complement activation [GO:0030449]; response to iron ion [GO:0010039]

drug:
DB00054;DB00051;DB00092;DB00087;DB00074;DB00112;DB00002;DB00111;DB00095;DB00005;DB00056;DB00078;DB00075;DB00108;DB00110;DB00073;DB00081;DB00072;


uniprotID: Q69YN2
geneSymbol: CWF19L1
name: CWF19-like protein 1 (C19L1)
length: 538
go: ENSG00000095485;
snps: rs2270962 rs7073610 rs35490714 rs7922946
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q69YN2-1; Sequence=Displayed; Name=2; IsoId=Q69YN2-2; Sequence=VSP_030586, VSP_030588; Note=No experimental confirmation available.; Name=3; IsoId=Q69YN2-3; Sequence=VSP_030587; 


uniprotID: Q9BXI9
geneSymbol: C1QTNF6
name: Complement C1q tumor necrosis factor-related protein 6
length: 278
go: ENSG00000133466;
snps: rs229527 rs229526 rs7290488 rs17812699 rs17812681
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
collagen trimer [GO:0005581]; extracellular space [GO:0005615]; identical protein binding [GO:0042802]; protein heterotrimerization [GO:0070208]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BXI9-2; Sequence=Displayed; Name=2; IsoId=Q9BXI9-1; Sequence=VSP_059766; Name=3; IsoId=Q9BXI9-3; Sequence=VSP_059765; Note=No experimental confirmation available.; 


uniprotID: P09871
geneSymbol: C1S
reactome: R-HSA-166663;R-HSA-173623;R-HSA-977606;
pdb: 1ELV;1NZI;4J1Y;4LMF;4LOR;4LOS;4LOT;6F1C;6F1H;
length: 688
go: ENSG00000182326;
drug: DB00054;DB00051;DB00074;DB06404;DB09228;DB00002;DB00005;DB00056;DB00078;DB00075;DB00073;DB00072;
snps: rs12146727 rs886040975 rs2239170 rs20573
name:
Complement C1s subcomponent (EC 3.4.21.42) (C1 esterase) (Complement component 1 subcomponent s) [Cleaved into: Complement C1s subcomponent heavy chain; Complement C1s subcomponent light chain]

sequence:

opentargets:
blood microparticle [GO:0072562]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; calcium ion binding [GO:0005509]; identical protein binding [GO:0042802]; serine-type endopeptidase activity [GO:0004252]; complement activation [GO:0006956]; complement activation, classical pathway [GO:0006958]; innate immune response [GO:0045087]; regulation of complement activation [GO:0030449]


uniprotID: Q9Y5P4
geneSymbol: COL4A3BP
reactome: R-HSA-1660661;
pdb: 2E3M;2E3N;2E3O;2E3P;2E3Q;2E3R;2E3S;2RSG;2Z9Y;2Z9Z;3H3Q;3H3R;3H3S;3H3T;4HHV;5JJD;
length: 624
go: ENSG00000113163;
snps: rs1064794019 rs55882089
name:
Collagen type IV alpha-3-binding protein (Ceramide transfer protein) (hCERT) (Goodpasture antigen-binding protein) (GPBP) (START domain-containing protein 11) (StARD11) (StAR-related lipid transfer protein 11)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; intracellular [GO:0005622]; membrane [GO:0016020]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; ceramide 1-phosphate binding [GO:1902387]; ceramide 1-phosphate transporter activity [GO:1902388]; ceramide binding [GO:0097001]; intermembrane ceramide transfer activity [GO:0120017]; kinase activity [GO:0016301]; lipid binding [GO:0008289]; phosphatidylinositol-4-phosphate binding [GO:0070273]; cell morphogenesis [GO:0000902]; cell proliferation [GO:0008283]; ceramide metabolic process [GO:0006672]; ceramide transport [GO:0035627]; endoplasmic reticulum organization [GO:0007029]; ER to Golgi ceramide transport [GO:0035621]; heart morphogenesis [GO:0003007]; immune response [GO:0006955]; in utero embryonic development [GO:0001701]; intermembrane lipid transfer [GO:0120009]; intermembrane sphingolipid transfer [GO:0120012]; lipid homeostasis [GO:0055088]; mitochondrion morphogenesis [GO:0070584]; muscle contraction [GO:0006936]; response to endoplasmic reticulum stress [GO:0034976]; signal transduction [GO:0007165]; sphingolipid biosynthetic process [GO:0030148]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=CERTL {ECO:0000303|PubMed:14685229}; IsoId=Q9Y5P4-1; Sequence=Displayed; Name=2; Synonyms=Delta26, GPBPD26, CERT {ECO:0000303|PubMed:14685229}; IsoId=Q9Y5P4-2; Sequence=VSP_006276; Name=3; IsoId=Q9Y5P4-3; Sequence=VSP_041022; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16895911, ECO:0000269|PubMed:18184806}. Golgi apparatus {ECO:0000269|PubMed:16895911, ECO:0000269|PubMed:18184806}. Endoplasmic reticulum {ECO:0000269|PubMed:16895911, ECO:0000269|PubMed:18184806}. Note=Preferentially localized to the Golgi apparatus. {ECO:0000305|PubMed:16895911}.


uniprotID: O14569
geneSymbol: CYB561D2
name: Cytochrome b561 domain-containing protein 2 (Putative tumor suppressor protein 101F6)
length: 222
go: ENSG00000114395;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]; vesicle [GO:0031982]; ferroxidase activity [GO:0004322]; heme binding [GO:0020037]; metal ion binding [GO:0046872]


uniprotID: Q6ZS94
geneSymbol: C1orf229
name: Putative uncharacterized protein C1orf229
length: 237
sequence:


uniprotID: A0A0U1RR37
geneSymbol: C1orf232
name: Uncharacterized protein C1orf232
length: 186
sequence:
MNQAFWKTYKSKVLQTLSGESEEDLAEERENPALVGSETAEPTEETFNPMSQLARRVQGVGVKGWLTMSSLFNKEDEDKLLPSEPCADHPLAARPPSQAAAAAEARGPGFWDAFASRWQQQQAAAASMLRGTEPTPEPDPEPADEAAEEAAERPESQEAEPVAGFKWGFLTHKLAEMRVKAAPKGD


uniprotID: Q86V35
geneSymbol: CABP7
pdb: 2LV7;
name: Calcium-binding protein 7 (CaBP7) (Calneuron II) (Calneuron-2)
length: 215
go: ENSG00000100314;
sequence:

opentargets:
integral component of membrane [GO:0016021]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; trans-Golgi network membrane [GO:0032588]; calcium ion binding [GO:0005509]

location:
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane {ECO:0000305|PubMed:19338761}; Single-pass type IV membrane protein {ECO:0000305|PubMed:19338761}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:19338761}. Cell membrane {ECO:0000305|PubMed:19338761}; Single-pass type IV membrane protein {ECO:0000305|PubMed:19338761}.


uniprotID: Q9ULB4
geneSymbol: CDH9
reactome: R-HSA-418990;
name: Cadherin-9
length: 789
go: ENSG00000113100;
snps: rs2288467 rs2288466
sequence:

opentargets:
catenin complex [GO:0016342]; cell surface [GO:0009986]; cell-cell adherens junction [GO:0005913]; integral component of postsynaptic membrane [GO:0099055]; integral component of presynaptic membrane [GO:0099056]; plasma membrane [GO:0005886]; cadherin binding [GO:0045296]; calcium ion binding [GO:0005509]; cytoskeletal protein binding [GO:0008092]; protein homodimerization activity [GO:0042803]; adherens junction organization [GO:0034332]; calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0016339]; cell-cell adhesion [GO:0098609]; cell-cell adhesion mediated by cadherin [GO:0044331]; cell-cell junction assembly [GO:0007043]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; synapse assembly [GO:0007416]; synaptic membrane adhesion [GO:0099560]


uniprotID: P35219
geneSymbol: CA8
pdb: 2W2J;
name: Carbonic anhydrase-related protein (CARP) (Carbonic anhydrase VIII) (CA-VIII)
length: 290
go: ENSG00000178538;
drug: DB00909;
snps: rs267606695
sequence:

opentargets:
cytoplasm [GO:0005737]; carbonate dehydratase activity [GO:0004089]; zinc ion binding [GO:0008270]; phosphatidylinositol-mediated signaling [GO:0048015]


uniprotID: O75746
geneSymbol: SLC25A12
reactome: R-HSA-1268020;R-HSA-70263;
pdb: 4P5X;4P60;
length: 678
go: ENSG00000115840;
drug: DB00128;
snps: rs886037851 rs35565687 rs121434396
name:
Calcium-binding mitochondrial carrier protein Aralar1 (Mitochondrial aspartate glutamate carrier 1) (Solute carrier family 25 member 12)

sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; acidic amino acid transmembrane transporter activity [GO:0015172]; calcium ion binding [GO:0005509]; identical protein binding [GO:0042802]; L-aspartate transmembrane transporter activity [GO:0015183]; L-glutamate transmembrane transporter activity [GO:0005313]; aspartate transmembrane transport [GO:0015810]; gluconeogenesis [GO:0006094]; glutamate biosynthetic process [GO:0006537]; L-glutamate transmembrane transport [GO:0015813]; malate-aspartate shuttle [GO:0043490]; negative regulation of glucose catabolic process to lactate via pyruvate [GO:1904024]; positive regulation of ATP biosynthetic process [GO:2001171]; positive regulation of glucose metabolic process [GO:0010907]; positive regulation of myelination [GO:0031643]; response to calcium ion [GO:0051592]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75746-1; Sequence=Displayed; Name=2; IsoId=O75746-2; Sequence=VSP_054469; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:9722566}; Multi-pass membrane protein {ECO:0000269|PubMed:9722566}.


uniprotID: Q9NSY1
geneSymbol: BMP2K
pdb: 4W9W;4W9X;5I3O;5I3R;5IKW;
name: BMP-2-inducible protein kinase (BIKe) (EC 2.7.11.1)
length: 1161
go: ENSG00000138756;
snps: rs770167074 rs56143363 rs55782848 rs2288255 rs2114202 rs12507099
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:9853615}.
sequence:

opentargets:
nuclear speck [GO:0016607]; nucleus [GO:0005634]; ATP binding [GO:0005524]; phosphatase regulator activity [GO:0019208]; protein serine/threonine kinase activity [GO:0004674]; protein phosphorylation [GO:0006468]; regulation of bone mineralization [GO:0030500]; regulation of endocytosis [GO:0030100]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NSY1-1; Sequence=Displayed; Name=2; IsoId=Q9NSY1-2; Sequence=VSP_008091, VSP_008092; Name=3; IsoId=Q9NSY1-3; Sequence=VSP_008093, VSP_008091, VSP_008092; Note=No experimental confirmation available.; 


uniprotID: P12645
geneSymbol: BMP3
pdb: 2QCQ;
name: Bone morphogenetic protein 3 (BMP-3) (Bone morphogenetic protein 3A) (BMP-3A) (Osteogenin)
length: 472
go: ENSG00000152785;
snps: rs34213771 rs34847147 rs3733549 rs6831040 rs34505126
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; BMP receptor binding [GO:0070700]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; signaling receptor binding [GO:0005102]; transforming growth factor beta receptor binding [GO:0005160]; cartilage development [GO:0051216]; cell development [GO:0048468]; cell-cell signaling [GO:0007267]; osteoblast differentiation [GO:0001649]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; regulation of apoptotic process [GO:0042981]; regulation of MAPK cascade [GO:0043408]; skeletal system development [GO:0001501]; SMAD protein signal transduction [GO:0060395]


uniprotID: Q7Z624
geneSymbol: CAMKMT
reactome: R-HSA-2514859;R-HSA-8876725;
pdb: 4PWY;
name: Calmodulin-lysine N-methyltransferase (CLNMT) (CaM KMT) (EC 2.1.1.60)
length: 323
go: ENSG00000143919;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; calmodulin-lysine N-methyltransferase activity [GO:0018025]; heat shock protein binding [GO:0031072]; mitochondrion organization [GO:0007005]; protein methylation [GO:0006479]; regulation of rhodopsin mediated signaling pathway [GO:0022400]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z624-1; Sequence=Displayed; Name=2; IsoId=Q7Z624-2; Sequence=VSP_027784, VSP_027785; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm {ECO:0000269|PubMed:23285036}. Nucleus {ECO:0000269|PubMed:23285036}.; SUBCELLULAR LOCATION: Isoform 2: Golgi apparatus {ECO:0000269|PubMed:23285036}.


uniprotID: Q7Z465
geneSymbol: BNIPL
name: Bcl-2/adenovirus E1B 19 kDa-interacting protein 2-like protein
length: 357
go: ENSG00000163141;
snps: rs12068365 rs12068365
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; exopolyphosphatase activity [GO:0004309]; identical protein binding [GO:0042802]; apoptotic process [GO:0006915]; negative regulation of cell proliferation [GO:0008285]; polyphosphate catabolic process [GO:0006798]; regulation of growth rate [GO:0040009]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=BNIPL-2; IsoId=Q7Z465-1; Sequence=Displayed; Name=2; Synonyms=BNIPL-1, BNIP-Salpha; IsoId=Q7Z465-2; Sequence=VSP_012448; Name=3; Synonyms=BNIP-Sbeta; IsoId=Q7Z465-3; Sequence=VSP_012448, VSP_012449; 


uniprotID: Q00587
geneSymbol: CDC42EP1
name: Cdc42 effector protein 1 (Binder of Rho GTPases 5) (Serum protein MSE55)
length: 391
go: ENSG00000128283;
sequence:

opentargets:
cell-cell adherens junction [GO:0005913]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; endomembrane system [GO:0012505]; focal adhesion [GO:0005925]; plasma membrane [GO:0005886]; cadherin binding involved in cell-cell adhesion [GO:0098641]; GTP-Rho binding [GO:0017049]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of pseudopodium assembly [GO:0031274]; regulation of cell shape [GO:0008360]; Rho protein signal transduction [GO:0007266]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q00587-1; Sequence=Displayed; Name=2; IsoId=Q00587-2; Sequence=VSP_004325; 

location:
SUBCELLULAR LOCATION: Endomembrane system {ECO:0000269|PubMed:10430899}; Peripheral membrane protein {ECO:0000269|PubMed:10430899}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:10430899}.


uniprotID: Q9NP55
geneSymbol: BPIFA1
reactome: R-HSA-6803157;
pdb: 4KEG;4KGH;4KGO;4N4X;5I7J;5I7K;5I7L;
length: 256
go: ENSG00000198183;
name:
BPI fold-containing family A member 1 (Lung-specific protein X) (Nasopharyngeal carcinoma-related protein) (Palate lung and nasal epithelium clone protein) (Secretory protein in upper respiratory tracts) (Short PLUNC1) (SPLUNC1) (Tracheal epithelium-enriched protein) (Von Ebner protein Hl)

sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; lipid binding [GO:0008289]; antibacterial humoral response [GO:0019731]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; antimicrobial humoral response [GO:0019730]; defense response to virus [GO:0051607]; immune response in nasopharyngeal-associated lymphoid tissue [GO:0002395]; innate immune response [GO:0045087]; multicellular organismal water homeostasis [GO:0050891]; negative regulation of single-species biofilm formation in or on host organism [GO:1900229]; regulation of liquid surface tension [GO:0050828]; regulation of sodium ion transmembrane transport [GO:1902305]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NP55-1; Sequence=Displayed; Name=2; IsoId=Q9NP55-2; Sequence=VSP_057345; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:11425234, ECO:0000269|PubMed:12920053, ECO:0000269|PubMed:15158712, ECO:0000269|PubMed:23499554, ECO:0000269|PubMed:24043776, ECO:0000269|PubMed:24124190}. Note=Apical side of airway epithelial cells. Detected in airway surface liquid, nasal mucus and sputum.


uniprotID: Q9UKI2
geneSymbol: CDC42EP3
reactome: R-HSA-5687128;
name: Cdc42 effector protein 3 (Binder of Rho GTPases 2) (MSE55-related Cdc42-binding protein)
length: 254
go: ENSG00000163171;
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endomembrane system [GO:0012505]; plasma membrane [GO:0005886]; cytoskeletal regulatory protein binding [GO:0005519]; GTP-Rho binding [GO:0017049]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of pseudopodium assembly [GO:0031274]; regulation of cell shape [GO:0008360]; Rho protein signal transduction [GO:0007266]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Endomembrane system {ECO:0000269|PubMed:11035016}; Peripheral membrane protein {ECO:0000269|PubMed:11035016}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:11035016}.


uniprotID: Q96A19
geneSymbol: CCDC102A
name: Coiled-coil domain-containing protein 102A
length: 550
go: ENSG00000135736;
opentargets: myosin complex [GO:0016459]; motor activity [GO:0003774]
sequence:


uniprotID: Q68D86
geneSymbol: CCDC102B
name: Coiled-coil domain-containing protein 102B
length: 513
go: ENSG00000150636;
snps: rs572020 rs2187094 rs745894 rs34102373 rs17080065 rs9963788
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q68D86-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q68D86-2; Sequence=VSP_014688, VSP_014689; Note=No experimental confirmation available.; 


uniprotID: A2RUR9
geneSymbol: CCDC144A
name: Coiled-coil domain-containing protein 144A
length: 1427
go: ENSG00000170160;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=A2RUR9-1; Sequence=Displayed; Name=2; IsoId=A2RUR9-2; Sequence=VSP_029787, VSP_029789, VSP_029791; Note=No experimental confirmation available.; Name=3; IsoId=A2RUR9-3; Sequence=VSP_029788, VSP_029790, VSP_029791; 


uniprotID: Q8N1F1
geneSymbol: LRRC75A-AS1
length: 130
opentargets: mitochondrion [GO:0005739]
snps: rs35517418 rs35752829
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
name:
Putative uncharacterized protein LRRC75A-AS1, mitochondrial (FAM211A antisense RNA 1) (LRRC75A antisense RNA 1) (Putative uncharacterized protein FAM211A-AS1, mitochondrial)

sequence:
MFPGSLSRGRRAAVEMAWLPGSCARVAFAAGAAARYWTAWQGSAGPNPAAVAEAHGSLFCGRATSARAWSLRRPGPGSPAHSGGVQTRENWIAYPLQSAEDGVATRLQIREESASCLAAEYWSQEPAMRF


uniprotID: Q96EU7
geneSymbol: C1GALT1C1
reactome: R-HSA-5083632;R-HSA-913709;
length: 318
go: ENSG00000171155;
snps: rs17261572 rs45557031 rs137853599 rs397514537 rs200973382
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
name:
C1GALT1-specific chaperone 1 (C38H2-like protein 1) (C38H2-L1) (Core 1 beta1,3-galactosyltransferase 2) (C1Gal-T2) (C1GalT2) (Core 1 beta3-Gal-T2) (Core 1 beta3-galactosyltransferase-specific molecular chaperone)

sequence:

opentargets:
extracellular exosome [GO:0070062]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity [GO:0016263]; O-glycan processing, core 1 [GO:0016267]; platelet activation [GO:0030168]; platelet morphogenesis [GO:0036344]; protein O-linked glycosylation [GO:0006493]


uniprotID: Q9NR16
geneSymbol: CD163L1
name: Scavenger receptor cysteine-rich type 1 protein M160 (CD163 antigen-like 1) (CD antigen CD163b)
length: 1453
go: ENSG00000177675;
snps: rs6488268 rs4072797 rs4072796 rs36206713 rs35480970
sequence:

opentargets:
external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; scavenger receptor activity [GO:0005044]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=M160-alpha; IsoId=Q9NR16-1; Sequence=Displayed; Name=2; Synonyms=M160-beta; IsoId=Q9NR16-2; Sequence=VSP_016877; Name=3; IsoId=Q9NR16-3; Sequence=VSP_016875, VSP_016876; Note=No experimental confirmation available.; Name=4; IsoId=Q9NR16-4; Sequence=VSP_047557; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 2: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 3: Secreted {ECO:0000305}.


uniprotID: Q9NS00
geneSymbol: C1GALT1
reactome: R-HSA-913709;
length: 363
go: ENSG00000106392;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.
name:
Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 (EC 2.4.1.122) (B3Gal-T8) (Core 1 O-glycan T-synthase) (Core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 1) (Beta-1,3-galactosyltransferase) (Core 1 beta1,3-galactosyltransferase 1) (C1GalT1) (Core 1 beta3-Gal-T1)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity [GO:0016263]; metal ion binding [GO:0046872]; angiogenesis [GO:0001525]; intestinal epithelial cell development [GO:0060576]; kidney development [GO:0001822]; O-glycan processing, core 1 [GO:0016267]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NS00-1; Sequence=Displayed; Name=2; IsoId=Q9NS00-2; Sequence=VSP_024809; Note=No experimental confirmation available.; 


uniprotID: Q9BXJ5
geneSymbol: C1QTNF2
name: Complement C1q tumor necrosis factor-related protein 2
length: 285
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
collagen trimer [GO:0005581]; extracellular space [GO:0005615]; identical protein binding [GO:0042802]; signaling receptor binding [GO:0005102]; activation of MAPK activity [GO:0000187]; positive regulation of fatty acid oxidation [GO:0046321]; positive regulation of glucose import [GO:0046326]; positive regulation of glycogen biosynthetic process [GO:0045725]; protein heterotrimerization [GO:0070208]; protein homooligomerization [GO:0051260]


uniprotID: Q07021
geneSymbol: C1QBP
reactome: R-HSA-140837;
pdb: 1P32;3RPX;
length: 282
go: ENSG00000108561;
drug: DB08818;
snps: rs748497469 rs767427194
name:
Complement component 1 Q subcomponent-binding protein, mitochondrial (ASF/SF2-associated protein p32) (Glycoprotein gC1qBP) (C1qBP) (Hyaluronan-binding protein 1) (Mitochondrial matrix protein p32) (gC1q-R protein) (p33) (SF2AP32)

sequence:

opentargets:
cell surface [GO:0009986]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular space [GO:0005615]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; membrane [GO:0016020]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; presynaptic active zone [GO:0048786]; adrenergic receptor binding [GO:0031690]; complement component C1q binding [GO:0001849]; hyaluronic acid binding [GO:0005540]; kininogen binding [GO:0030984]; mitochondrial ribosome binding [GO:0097177]; mRNA binding [GO:0003729]; protein kinase C binding [GO:0005080]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; translation activator activity [GO:0008494]; apoptotic process [GO:0006915]; blood coagulation, intrinsic pathway [GO:0007597]; complement activation, classical pathway [GO:0006958]; immune response [GO:0006955]; innate immune response [GO:0045087]; mature ribosome assembly [GO:0042256]; mRNA processing [GO:0006397]; negative regulation of defense response to virus [GO:0050687]; negative regulation of interferon-gamma production [GO:0032689]; negative regulation of interleukin-12 production [GO:0032695]; negative regulation of MDA-5 signaling pathway [GO:0039534]; negative regulation of mRNA splicing, via spliceosome [GO:0048025]; negative regulation of RIG-I signaling pathway [GO:0039536]; negative regulation of transcription by RNA polymerase II [GO:0000122]; phosphatidylinositol 3-kinase signaling [GO:0014065]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cell adhesion [GO:0045785]; positive regulation of dendritic cell chemotaxis [GO:2000510]; positive regulation of mitochondrial translation [GO:0070131]; positive regulation of neutrophil chemotaxis [GO:0090023]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of substrate adhesion-dependent cell spreading [GO:1900026]; positive regulation of trophoblast cell migration [GO:1901165]; regulation of complement activation [GO:0030449]; RNA splicing [GO:0008380]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:15031724, ECO:0000269|PubMed:17486078, ECO:0000269|PubMed:19164550, ECO:0000269|PubMed:9305894}. Nucleus {ECO:0000269|PubMed:18676636}. Cell membrane {ECO:0000269|PubMed:11493647, ECO:0000269|PubMed:12574814, ECO:0000269|PubMed:8195709, ECO:0000269|PubMed:8662673, ECO:0000269|PubMed:9191880, ECO:0000269|PubMed:9233640}; Peripheral membrane protein {ECO:0000269|PubMed:12574814, ECO:0000269|PubMed:8662673, ECO:0000269|PubMed:9191880}; Extracellular side. Secreted. Cytoplasm {ECO:0000269|PubMed:11493647}. Nucleus, nucleolus {ECO:0000269|PubMed:21536856}. Note=Seems to be predominantly localized to mitochondria. Secreted by activated lymphocytes.


uniprotID: Q9BXJ0
geneSymbol: C1QTNF5
pdb: 4F3J;4NN0;
name: Complement C1q tumor necrosis factor-related protein 5
length: 243
go: ENSG00000223953;
snps: rs11538245 rs111033578
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
apical plasma membrane [GO:0016324]; bicellular tight junction [GO:0005923]; cell projection [GO:0042995]; collagen trimer [GO:0005581]; extracellular space [GO:0005615]; lateral plasma membrane [GO:0016328]; plasma membrane [GO:0005886]; transport vesicle [GO:0030133]; identical protein binding [GO:0042802]; inner ear development [GO:0048839]; protein secretion [GO:0009306]; protein trimerization [GO:0070206]


uniprotID: P02747
geneSymbol: C1QC
reactome: R-HSA-166663;R-HSA-173623;R-HSA-977606;
pdb: 1PK6;2JG8;2JG9;2WNU;2WNV;5HKJ;5HZF;6FCZ;
name: Complement C1q subcomponent subunit C
length: 245
go: ENSG00000159189;
snps: rs200206736
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
blood microparticle [GO:0072562]; collagen trimer [GO:0005581]; collagen-containing extracellular matrix [GO:0062023]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; serine-type endopeptidase activity [GO:0004252]; complement activation [GO:0006956]; complement activation, classical pathway [GO:0006958]; immune response [GO:0006955]; innate immune response [GO:0045087]; negative regulation of granulocyte differentiation [GO:0030853]; negative regulation of macrophage differentiation [GO:0045650]; regulation of complement activation [GO:0030449]

drug:
DB00054;DB00051;DB00092;DB00087;DB00074;DB00112;DB00002;DB00111;DB00095;DB00005;DB00056;DB00078;DB00075;DB00108;DB00110;DB00073;DB00081;DB00072;


uniprotID: Q9NZP8
geneSymbol: C1RL
length: 487
go: ENSG00000139178;
snps: rs3742089
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:15358180}.
name:
Complement C1r subcomponent-like protein (C1r-LP) (C1r-like protein) (EC 3.4.21.-) (C1r-like serine protease analog protein) (CLSPa)

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; serine-type endopeptidase activity [GO:0004252]; complement activation, classical pathway [GO:0006958]; innate immune response [GO:0045087]; zymogen activation [GO:0031638]


uniprotID: Q9UKL3
geneSymbol: CASP8AP2
reactome: R-HSA-3899300;
pdb: 2LR8;6ANO;6AOZ;6AP0;
name: CASP8-associated protein 2 (FLICE-associated huge protein)
length: 1982
snps: rs3799896
sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; cysteine-type endopeptidase activator activity involved in apoptotic process [GO:0008656]; death receptor binding [GO:0005123]; DNA binding [GO:0003677]; peptidase activator activity involved in apoptotic process [GO:0016505]; SUMO polymer binding [GO:0032184]; transcription corepressor activity [GO:0003714]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; apoptotic signaling pathway [GO:0097190]; cell cycle [GO:0007049]; cellular response to mechanical stimulus [GO:0071260]; extrinsic apoptotic signaling pathway via death domain receptors [GO:0008625]; Fas signaling pathway [GO:0036337]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Nucleus, PML body. Mitochondrion. Note=Exported from the nucleus to the mitochondria upon FAS activation.


uniprotID: Q01668
geneSymbol: CACNA1D
reactome: R-HSA-400042;R-HSA-419037;R-HSA-422356;R-HSA-5576892;R-HSA-5576893;
pdb: 3LV3;
length: 2161
go: ENSG00000157388;
snps: rs41276445 rs41276455
name:
Voltage-dependent L-type calcium channel subunit alpha-1D (Calcium channel, L type, alpha-1 polypeptide, isoform 2) (Voltage-gated calcium channel subunit alpha Cav1.3)

sequence:

opentargets:
cochlear hair cell ribbon synapse [GO:0098683]; integral component of presynaptic active zone membrane [GO:0099059]; L-type voltage-gated calcium channel complex [GO:1990454]; plasma membrane [GO:0005886]; voltage-gated calcium channel complex [GO:0005891]; Z disc [GO:0030018]; alpha-actinin binding [GO:0051393]; ankyrin binding [GO:0030506]; calcium channel activity [GO:0005262]; high voltage-gated calcium channel activity [GO:0008331]; metal ion binding [GO:0046872]; voltage-gated calcium channel activity [GO:0005245]; voltage-gated calcium channel activity involved in cardiac muscle cell action potential [GO:0086007]; voltage-gated calcium channel activity involved in positive regulation of presynaptic cytosolic calcium levels [GO:0099635]; voltage-gated calcium channel activity involved SA node cell action potential [GO:0086059]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; calcium ion import [GO:0070509]; calcium ion transmembrane transport [GO:0070588]; calcium ion transport [GO:0006816]; cardiac muscle cell action potential involved in contraction [GO:0086002]; membrane depolarization during cardiac muscle cell action potential [GO:0086012]; membrane depolarization during SA node cell action potential [GO:0086046]; positive regulation of calcium ion transport [GO:0051928]; regulation of atrial cardiac muscle cell membrane repolarization [GO:0060372]; regulation of heart rate by cardiac conduction [GO:0086091]; regulation of insulin secretion [GO:0050796]; regulation of potassium ion transmembrane transport [GO:1901379]; regulation of potassium ion transmembrane transporter activity [GO:1901016]; sensory perception of sound [GO:0007605]

drug:
DB00381;DB00568;DB04920;DB04855;DB00898;DB01023;DB00270;DB01388;DB00622;DB01115;DB06712;DB00393;DB00401;DB01054;DB00421;DB00661;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist.; Name=Neuronal-type; IsoId=Q01668-1; Sequence=Displayed; Name=Beta-cell-type; IsoId=Q01668-2; Sequence=VSP_000913, VSP_000914; Name=4; Synonyms=Ca(V)1.3(42A); IsoId=Q01668-4; Sequence=VSP_047921, VSP_047922; Note=Expressed at 5% to 15% of isoform Neuronal-type in brain tissues, increased current density.; Name=3; IsoId=Q01668-3; Sequence=VSP_046743, VSP_046744; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:18482979}; Multi-pass membrane protein {ECO:0000269|PubMed:18482979}.


uniprotID: P54289
geneSymbol: CACNA2D1
reactome: R-HSA-5576892;R-HSA-5576893;
length: 1103
go: ENSG00000153956;
snps: rs9886043 rs35131433
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
name:
Voltage-dependent calcium channel subunit alpha-2/delta-1 (Voltage-gated calcium channel subunit alpha-2/delta-1) [Cleaved into: Voltage-dependent calcium channel subunit alpha-2-1; Voltage-dependent calcium channel subunit delta-1]

sequence:

opentargets:
extracellular exosome [GO:0070062]; L-type voltage-gated calcium channel complex [GO:1990454]; plasma membrane [GO:0005886]; sarcoplasmic reticulum [GO:0016529]; voltage-gated calcium channel complex [GO:0005891]; metal ion binding [GO:0046872]; voltage-gated calcium channel activity [GO:0005245]; calcium ion import across plasma membrane [GO:0098703]; calcium ion transmembrane transport via high voltage-gated calcium channel [GO:0061577]; calcium ion transport [GO:0006816]; calcium ion transport into cytosol [GO:0060402]; cardiac muscle cell action potential involved in contraction [GO:0086002]; cellular response to amyloid-beta [GO:1904646]; membrane depolarization during bundle of His cell action potential [GO:0086048]; positive regulation of high voltage-gated calcium channel activity [GO:1901843]; regulation of calcium ion transmembrane transport via high voltage-gated calcium channel [GO:1902514]; regulation of calcium ion transport [GO:0051924]; regulation of heart rate by cardiac conduction [GO:0086091]; regulation of membrane repolarization during action potential [GO:0098903]; regulation of ventricular cardiac muscle cell membrane repolarization [GO:0060307]

drug:
DB00381;DB04838;DB01023;DB00996;DB00308;DB00270;DB00653;DB00622;DB01115;DB06712;DB00401;DB01054;DB00421;DB04922;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=Alpha-2a; IsoId=P54289-1; Sequence=Displayed; Name=2; Synonyms=Alpha-2b; IsoId=P54289-2; Sequence=VSP_038348, VSP_038350; Name=3; Synonyms=Alpha-2c; IsoId=P54289-3; Sequence=VSP_038349, VSP_038350; Name=4; Synonyms=Alpha-2d; IsoId=P54289-4; Sequence=VSP_038349; Name=5; Synonyms=Alpha-2e; IsoId=P54289-5; Sequence=VSP_038348; 


uniprotID: Q8IXH8
geneSymbol: CDH26
name: Cadherin-like protein 26 (Cadherin-like protein VR20)
length: 832
go: ENSG00000124215;
snps: rs6015609 rs11086690 rs34866303 rs6071067 rs194998
sequence:

opentargets:
catenin complex [GO:0016342]; cell surface [GO:0009986]; cell-cell adherens junction [GO:0005913]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; alpha-catenin binding [GO:0045294]; beta-catenin binding [GO:0008013]; cadherin binding [GO:0045296]; calcium ion binding [GO:0005509]; cytoskeletal protein binding [GO:0008092]; delta-catenin binding [GO:0070097]; integrin binding [GO:0005178]; protein homodimerization activity [GO:0042803]; adherens junction organization [GO:0034332]; calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0016339]; CD4-positive, alpha-beta T cell activation [GO:0035710]; cell-cell adhesion [GO:0098609]; cell-cell adhesion mediated by cadherin [GO:0044331]; cell-cell junction assembly [GO:0007043]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=3; IsoId=Q8IXH8-4; Sequence=Displayed; Name=1; Synonyms=a; IsoId=Q8IXH8-1; Sequence=VSP_059693; Name=2; Synonyms=b; IsoId=Q8IXH8-2; Sequence=VSP_008333, VSP_008334; Note=No experimental confirmation available.; Name=4; IsoId=Q8IXH8-5; Sequence=VSP_008333, VSP_008334, VSP_059694; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:28051089}; Single-pass type I membrane protein {ECO:0000305|PubMed:28051089}.


uniprotID: Q6ZSI9
geneSymbol: CAPN12
reactome: R-HSA-1474228;
name: Calpain-12 (EC 3.4.22.-) (Calcium-activated neutral proteinase 12) (CANP 12)
length: 719
go: ENSG00000182472;
snps: rs12983010
sequence:

opentargets:
cytoplasm [GO:0005737]; calcium ion binding [GO:0005509]; calcium-dependent cysteine-type endopeptidase activity [GO:0004198]; proteolysis [GO:0006508]


uniprotID: Q969J3
geneSymbol: BORCS5
length: 196
go: ENSG00000165714;
snps: rs3741795 rs3751262
name:
BLOC-1-related complex subunit 5 (Loss of heterozygosity 12 chromosomal region 1) (Myristoylated lysosomal protein) (Myrlysin)

sequence:
MGSEQSSEAESRPNDLNSSVTPSPAKHRAKMDDIVVVAQGSQASRNVSNDPDVIKLQEIPTFQPLLKGLLSGQTSPTNAKLEKLDSQQVLQLCLRYQDHLHQCAEAVAFDQNALVKRIKEMDLSVETLFSFMQERQKRYAKYAEQIQKVNEMSAILRRIQMGIDQTVPLLDRLNSMLPEGERLEPFSMKPDRELRL

opentargets:
BORC complex [GO:0099078]; cytoplasmic side of lysosomal membrane [GO:0098574]; intrinsic component of membrane [GO:0031224]; lysosome localization [GO:0032418]; organelle transport along microtubule [GO:0072384]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q969J3-1; Sequence=Displayed; Name=2; IsoId=Q969J3-2; Sequence=VSP_031254; 

location:
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:25898167}; Lipid-anchor {ECO:0000269|PubMed:25898167}; Cytoplasmic side {ECO:0000269|PubMed:25898167}.


uniprotID: Q96GS4
geneSymbol: BORCS6
name: BLOC-1-related complex subunit 6 (Lysosome-dispersing protein) (Lyspersin)
length: 357
go: ENSG00000196544;
opentargets: BORC complex [GO:0099078]; lysosomal membrane [GO:0005765]; lysosome localization [GO:0032418]
location: SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000305|PubMed:25898167}.
sequence:


uniprotID: O95861
geneSymbol: BPNT1
reactome: R-HSA-156584;
pdb: 2WEF;
length: 308
go: ENSG00000162813;
name:
3'(2'),5'-bisphosphate nucleotidase 1 (EC 3.1.3.7) (Bisphosphate 3'-nucleotidase 1) (PAP-inositol 1,4-phosphatase) (PIP)

sequence:

opentargets:
cytosol [GO:0005829]; 3'(2'),5'-bisphosphate nucleotidase activity [GO:0008441]; metal ion binding [GO:0046872]; 3'-phosphoadenosine 5'-phosphosulfate metabolic process [GO:0050427]; nervous system development [GO:0007399]; nucleobase-containing compound metabolic process [GO:0006139]; phosphatidylinositol phosphorylation [GO:0046854]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O95861-1; Sequence=Displayed; Name=2; IsoId=O95861-2; Sequence=VSP_009937; Note=No experimental confirmation available.; Name=3; IsoId=O95861-3; Sequence=VSP_054807; Name=4; IsoId=O95861-4; Sequence=VSP_054808; 


uniprotID: Q96FH0
geneSymbol: BORCS8
name: BLOC-1-related complex subunit 8 (MEF2B neighbor)
length: 119
go: ENSG00000064489;ENSG00000254901;
opentargets: BORC complex [GO:0099078]; lysosomal membrane [GO:0005765]; heart development [GO:0007507]
location: SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000305|PubMed:25898167}.
sequence:
MEEPEMQLKGKKVTDKFTESVYVLANEPSVALYRLQEHVRRSLPELAQHKADMQRWEEQSQGAIYTVEYACSAVKNLVDSSVYFRSVEGLLKQAISIRDHMNASAQGHSPEEPPPPSSA

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96FH0-1; Sequence=Displayed; Name=2; IsoId=Q96FH0-2; Sequence=VSP_022103, VSP_022104; 


uniprotID: Q7L1Q6
geneSymbol: BZW1
name: Basic leucine zipper and W2 domain-containing protein 1 (Protein Orf)
length: 419
go: ENSG00000082153;
sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; cadherin binding [GO:0045296]; RNA binding [GO:0003723]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q7L1Q6-1; Sequence=Displayed; Name=2; IsoId=Q7L1Q6-2; Sequence=VSP_021266; Note=No experimental confirmation available.; Name=3; IsoId=Q7L1Q6-3; Sequence=VSP_043568; Note=No experimental confirmation available.; Name=4; IsoId=Q7L1Q6-4; Sequence=VSP_043569; Note=No experimental confirmation available.; 


uniprotID: Q6NUI1
geneSymbol: CCDC144NL
name: Putative coiled-coil domain-containing protein 144 N-terminal-like
length: 221
go: ENSG00000205212;
snps: rs7216787
sequence:


uniprotID: Q2TBE0
geneSymbol: CWF19L2
name: CWF19-like protein 2
length: 894
go: ENSG00000152404;
snps: rs608634 rs659040 rs35968518 rs17106909 rs3758911
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q2TBE0-1; Sequence=Displayed; Name=2; IsoId=Q2TBE0-2; Sequence=VSP_030592, VSP_030593; 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=Q2TBE0-3; Sequence=VSP_030590, VSP_030591; 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.; 


uniprotID: Q5T0F9
geneSymbol: CC2D1B
length: 858
go: ENSG00000154222;
snps: rs11555349
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19423080}.
name:
Coiled-coil and C2 domain-containing protein 1B (Five prime repressor element under dual repression-binding protein 2) (FRE under dual repression-binding protein 2) (Freud-2)

sequence:

opentargets:
intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; negative regulation of transcription by RNA polymerase II [GO:0000122]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q5T0F9-1; Sequence=Displayed; Name=2; IsoId=Q5T0F9-2; Sequence=VSP_025659; Name=3; IsoId=Q5T0F9-3; Sequence=VSP_025657, VSP_025659, VSP_025661; Name=4; IsoId=Q5T0F9-4; Sequence=VSP_025658, VSP_025660; Name=5; IsoId=Q5T0F9-5; Sequence=VSP_025662, VSP_025663; 


uniprotID: Q86Z23
geneSymbol: C1QL4
length: 238
go: ENSG00000186897;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
name:
Complement C1q-like protein 4 (C1q and tumor necrosis factor-related protein 11) (C1q/TNF-related protein 11)

sequence:

opentargets:
collagen trimer [GO:0005581]; extracellular space [GO:0005615]; identical protein binding [GO:0042802]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of fat cell differentiation [GO:0045599]; negative regulation of fibroblast proliferation [GO:0048147]


uniprotID: Q9P2K1
geneSymbol: CC2D2A
reactome: R-HSA-5620912;
name: Coiled-coil and C2 domain-containing protein 2A
length: 1620
go: ENSG00000048342;
sequence:

opentargets:
ciliary transition zone [GO:0035869]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; MKS complex [GO:0036038]; axoneme assembly [GO:0035082]; camera-type eye development [GO:0043010]; ciliary basal body-plasma membrane docking [GO:0097711]; cilium assembly [GO:0060271]; determination of left/right symmetry [GO:0007368]; embryonic brain development [GO:1990403]; heart development [GO:0007507]; motile cilium assembly [GO:0044458]; neural tube closure [GO:0001843]; non-motile cilium assembly [GO:1905515]; protein localization to ciliary transition zone [GO:1904491]; smoothened signaling pathway [GO:0007224]

snps:
rs186264635 rs16892095 rs144439937 rs754221308 rs16892134 rs190698163 rs537906621 rs199768782 rs751256652 rs863225173 rs863225169 rs386833752 rs267606709 rs118204051 rs1473532901 rs863225170 rs386833755 rs779823379 rs754586025 rs763486732 rs863225168 rs387907058 rs780673487 rs1478902342 rs118204052 rs763425007 rs201502401 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9P2K1-4; Sequence=Displayed; Name=2; IsoId=Q9P2K1-2; Sequence=VSP_030923, VSP_037223; Name=3; IsoId=Q9P2K1-5; Sequence=VSP_045255, VSP_045256; Note=No experimental confirmation available.; Name=4; IsoId=Q9P2K1-6; Sequence=VSP_045453, VSP_045454; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme. {ECO:0000250}.


