# annotation

uniprotID: O15143
geneSymbol: ARPC1B
reactome: R-HSA-2029482;R-HSA-3928662;R-HSA-5663213;
name: Actin-related protein 2/3 complex subunit 1B (Arp2/3 complex 41 kDa subunit) (p41-ARC)
length: 372
go: ENSG00000130429;
drug: DB08235;
snps: rs1045012 rs147238850
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; Arp2/3 protein complex [GO:0005885]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; nucleus [GO:0005634]; tubulobulbar complex [GO:0036284]; actin filament binding [GO:0051015]; structural constituent of cytoskeleton [GO:0005200]; Arp2/3 complex-mediated actin nucleation [GO:0034314]; ephrin receptor signaling pathway [GO:0048013]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; response to estradiol [GO:0032355]; response to estrogen [GO:0043627]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:11741539, ECO:0000269|PubMed:9230079}. Nucleus {ECO:0000269|PubMed:29925947}.


uniprotID: Q96IT6
geneSymbol: ARHGAP5-AS1
sequence: MQAPDSVRSVKVEREAKTWIEKPRGAGLRVAQKTPVHATTSLTLGTVVHLAFIILP
length: 56
name:
Putative uncharacterized protein ARHGAP5-AS1 (ARHGAP5 antisense RNA 1) (ARHGAP5 antisense gene protein 1)


uniprotID: P15514
geneSymbol: AREG
reactome: R-HSA-204005;R-HSA-5694530;
pdb: 2RNL;
name: Amphiregulin (AR) (Colorectum cell-derived growth factor) (CRDGF)
length: 252
go: ENSG00000109321;
snps: rs373527160 rs28364979
location: SUBCELLULAR LOCATION: Membrane; Single-pass membrane protein.
sequence:

opentargets:
cell surface [GO:0009986]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; ER to Golgi transport vesicle membrane [GO:0012507]; extracellular space [GO:0005615]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; nucleus [GO:0005634]; cytokine activity [GO:0005125]; epidermal growth factor receptor binding [GO:0005154]; growth factor activity [GO:0008083]; cell proliferation [GO:0008283]; cell-cell signaling [GO:0007267]; COPII vesicle coating [GO:0048208]; dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis [GO:0060598]; epidermal growth factor receptor signaling pathway [GO:0007173]; epithelial cell proliferation involved in mammary gland duct elongation [GO:0060750]; ER to Golgi vesicle-mediated transport [GO:0006888]; G protein-coupled receptor signaling pathway [GO:0007186]; glial cell proliferation [GO:0014009]; mammary gland alveolus development [GO:0060749]; mammary gland branching involved in thelarche [GO:0060744]; negative regulation of osteoblast differentiation [GO:0045668]; neuron projection development [GO:0031175]; positive regulation of cell proliferation [GO:0008284]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; response to cAMP [GO:0051591]; response to estradiol [GO:0032355]; response to glucocorticoid [GO:0051384]; response to hydrogen peroxide [GO:0042542]; response to peptide hormone [GO:0043434]


uniprotID: P18085
geneSymbol: ARF4
reactome: R-HSA-5620916;R-HSA-6807878;R-HSA-6811434;
pdb: 1Z6X;
name: ADP-ribosylation factor 4
length: 180
go: ENSG00000168374;
drug: DB04315;
snps: rs11550597
location: SUBCELLULAR LOCATION: Golgi apparatus. Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}.
sequence:
MGLTISSLFSRLFGKKQMRILMVGLDAAGKTTILYKLKLGEIVTTIPTIGFNVETVEYKNICFTVWDVGGQDRIRPLWKHYFQNTQGLIFVVDSNDRERIQEVADELQKMLLVDELRDAVLLLFANKQDLPNAMAISEMTDKLGLQSLRNRTWYVQATCATQGTGLYEGLDWLSNELSKR

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; extracellular exosome [GO:0070062]; glutamatergic synapse [GO:0098978]; Golgi apparatus [GO:0005794]; membrane [GO:0016020]; plasma membrane [GO:0005886]; ruffle membrane [GO:0032587]; ARF guanyl-nucleotide exchange factor activity [GO:0005086]; epidermal growth factor receptor binding [GO:0005154]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; activation of phospholipase D activity [GO:0031584]; apical protein localization [GO:0045176]; brain development [GO:0007420]; cell migration [GO:0016477]; dendritic spine development [GO:0060996]; epidermal growth factor receptor signaling pathway [GO:0007173]; ER to Golgi vesicle-mediated transport [GO:0006888]; establishment or maintenance of epithelial cell apical/basal polarity [GO:0045197]; Golgi to plasma membrane transport [GO:0006893]; intracellular protein transport [GO:0006886]; learning [GO:0007612]; negative regulation of apoptotic process [GO:0043066]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein ADP-ribosylation [GO:0006471]; protein localization to cilium [GO:0061512]; regulation of postsynapse organization [GO:0099175]; regulation of reactive oxygen species metabolic process [GO:2000377]; response to axon injury [GO:0048678]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]; vesicle-mediated transport [GO:0016192]


uniprotID: P84077
geneSymbol: ARF1
pdb: 1HUR;1RE0;1U81;3O47;4HMY;6CM9;6CRI;6D83;6D84;6DFF;6FAE;
name: ADP-ribosylation factor 1
length: 181
go: ENSG00000143761;
drug: DB04077;DB04121;DB04315;DB04137;DB08231;
reactome:
R-HSA-1660499;R-HSA-1660514;R-HSA-167590;R-HSA-2132295;R-HSA-421837;R-HSA-432720;R-HSA-432722;R-HSA-6807878;R-HSA-6811434;R-HSA-6811438;R-HSA-8950505;

sequence:
MGNIFANLFKGLFGKKEMRILMVGLDAAGKTTILYKLKLGEIVTTIPTIGFNVETVEYKNISFTVWDVGGQDKIRPLWRHYFQNTQGLIFVVDSNDRERVNEAREELMRMLAEDELRDAVLLVFANKQDLPNAMNAAEITDKLGLHSLRHRNWYIQATCATSGDGLYEGLDWLSNQLRNQK

opentargets:
cell leading edge [GO:0031252]; COPI-coated vesicle [GO:0030137]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; glutamatergic synapse [GO:0098978]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; late endosome [GO:0005770]; neuron projection [GO:0043005]; perinuclear region of cytoplasm [GO:0048471]; peroxisomal membrane [GO:0005778]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; protein-containing complex [GO:0032991]; sarcomere [GO:0030017]; trans-Golgi network [GO:0005802]; GDP binding [GO:0019003]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; magnesium ion binding [GO:0000287]; phospholipase D activator activity [GO:1990583]; protein domain specific binding [GO:0019904]; protein heterodimerization activity [GO:0046982]; RNA binding [GO:0003723]; actin filament organization [GO:0007015]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; cellular copper ion homeostasis [GO:0006878]; cellular response to virus [GO:0098586]; dendritic spine organization [GO:0097061]; Golgi to plasma membrane transport [GO:0006893]; Golgi to transport vesicle transport [GO:0055108]; interleukin-12-mediated signaling pathway [GO:0035722]; intracellular protein transport [GO:0006886]; long-term synaptic depression [GO:0060292]; lysosomal membrane organization [GO:0097212]; mitotic cleavage furrow ingression [GO:1990386]; phosphatidylinositol biosynthetic process [GO:0006661]; positive regulation of calcium ion-dependent exocytosis [GO:0045956]; positive regulation of dendritic spine development [GO:0060999]; positive regulation of endocytosis [GO:0045807]; positive regulation of ER to Golgi vesicle-mediated transport [GO:1902953]; positive regulation of late endosome to lysosome transport [GO:1902824]; positive regulation of protein secretion [GO:0050714]; positive regulation of sodium ion transmembrane transport [GO:1902307]; postsynaptic actin cytoskeleton organization [GO:0098974]; regulation of Arp2/3 complex-mediated actin nucleation [GO:0034315]; regulation of defense response to virus by virus [GO:0050690]; regulation of phospholipid metabolic process [GO:1903725]; regulation of receptor internalization [GO:0002090]; synaptic vesicle budding [GO:0070142]; very-low-density lipoprotein particle assembly [GO:0034379]; vesicle-mediated transport [GO:0016192]

location:
SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000269|PubMed:17555535}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:17555535}. Cell junction, synapse, synaptosome {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}. Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}.


uniprotID: O14958
geneSymbol: CASQ2
reactome: R-HSA-2672351;R-HSA-5578775;
pdb: 2VAF;
name: Calsequestrin-2 (Calsequestrin, cardiac muscle isoform)
length: 399
go: ENSG00000118729;
snps: rs749547712 rs4074536 rs10801999 rs121434550 rs886039816 rs28730716 rs121434549 rs28730712
sequence:

opentargets:
calcium channel complex [GO:0034704]; cytoplasm [GO:0005737]; junctional membrane complex [GO:0030314]; junctional sarcoplasmic reticulum membrane [GO:0014701]; sarcoplasmic reticulum [GO:0016529]; sarcoplasmic reticulum lumen [GO:0033018]; sarcoplasmic reticulum membrane [GO:0033017]; Z disc [GO:0030018]; calcium ion binding [GO:0005509]; calcium-dependent protein binding [GO:0048306]; protein homodimerization activity [GO:0042803]; cardiac muscle contraction [GO:0060048]; cellular response to caffeine [GO:0071313]; detection of calcium ion [GO:0005513]; ion transmembrane transport [GO:0034220]; negative regulation of potassium ion transmembrane transporter activity [GO:1901017]; negative regulation of potassium ion transport [GO:0043267]; negative regulation of ryanodine-sensitive calcium-release channel activity [GO:0060315]; protein polymerization [GO:0051258]; Purkinje myocyte to ventricular cardiac muscle cell signaling [GO:0086029]; regulation of cardiac conduction [GO:1903779]; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion [GO:0010881]; regulation of cell communication by electrical coupling [GO:0010649]; regulation of heart rate [GO:0002027]; regulation of membrane repolarization [GO:0060306]; regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum [GO:0010880]; regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion [GO:0014809]; sarcomere organization [GO:0045214]; sequestering of calcium ion [GO:0051208]; striated muscle contraction [GO:0006941]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O14958-1; Sequence=Displayed; Name=2; IsoId=O14958-2; Sequence=VSP_056477; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Sarcoplasmic reticulum lumen {ECO:0000250|UniProtKB:O09161}. Note=This isoform of calsequestrin occurs in the sarcoplasmic reticulum's terminal cisternae luminal spaces of cardiac and slow skeletal muscle cells. {ECO:0000250|UniProtKB:O09161}.


uniprotID: Q8N726
geneSymbol: CDKN2A
reactome: R-HSA-2559580;R-HSA-2559585;R-HSA-3108214;R-HSA-3232118;R-HSA-6804757;R-HSA-69541;R-HSA-8941858;
length: 132
go: ENSG00000147889;
snps: rs3731190 rs4987127 rs34886500 rs35741010
name:
Tumor suppressor ARF (Alternative reading frame) (ARF) (Cyclin-dependent kinase inhibitor 2A) (p14ARF)

sequence:
MVRRFLVTLRIRRACGPPRVRVFVVHIPRLTGEWAAPGAPAAVALVLMLLRSQRLGQQPLPRRPGHDDGQRPSGGAAAAPRRGAQLRRPRHSHPTRARRCPGGLPGHAGGAAPGRGAAGRARCLGPSARGPG

opentargets:
mitochondrion [GO:0005739]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; disordered domain specific binding [GO:0097718]; DNA binding [GO:0003677]; MDM2/MDM4 family protein binding [GO:0097371]; p53 binding [GO:0002039]; SUMO transferase activity [GO:0019789]; transcription factor binding [GO:0008134]; ubiquitin ligase inhibitor activity [GO:1990948]; ubiquitin-protein transferase inhibitor activity [GO:0055105]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; amyloid fibril formation [GO:1990000]; apoptotic mitochondrial changes [GO:0008637]; autophagy of mitochondrion [GO:0000422]; cell cycle arrest [GO:0007050]; cellular senescence [GO:0090398]; mitochondrial depolarization [GO:0051882]; negative regulation of B cell proliferation [GO:0030889]; negative regulation of cell proliferation [GO:0008285]; negative regulation of immature T cell proliferation in thymus [GO:0033088]; negative regulation of protein kinase activity [GO:0006469]; negative regulation of protein neddylation [GO:2000435]; negative regulation of proteolysis involved in cellular protein catabolic process [GO:1903051]; negative regulation of ubiquitin protein ligase activity [GO:1904667]; negative regulation of ubiquitin-dependent protein catabolic process [GO:2000059]; negative regulation of ubiquitin-protein transferase activity [GO:0051444]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cell cycle arrest [GO:0071158]; positive regulation of DNA damage response, signal transduction by p53 class mediator [GO:0043517]; positive regulation of gene expression [GO:0010628]; positive regulation of protein localization to nucleus [GO:1900182]; positive regulation of protein sumoylation [GO:0033235]; positive regulation of signal transduction by p53 class mediator [GO:1901798]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; protein destabilization [GO:0031648]; protein K63-linked ubiquitination [GO:0070534]; protein polyubiquitination [GO:0000209]; protein stabilization [GO:0050821]; regulation of apoptotic DNA fragmentation [GO:1902510]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; regulation of protein export from nucleus [GO:0046825]; regulation of protein stability [GO:0031647]; regulation of protein targeting to mitochondrion [GO:1903214]; rRNA processing [GO:0006364]; somatic stem cell division [GO:0048103]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Comment=Isoform 1 and isoform tumor suppressor ARF arise due to the use of two alternative first exons joined to a common exon 2 at the same acceptor site but in different reading frames, resulting in two completely different isoforms. {ECO:0000250|UniProtKB:Q64364}; Name=tumor suppressor ARF {ECO:0000303|PubMed:11314011}; Synonyms=p14ARF {ECO:0000303|PubMed:9724636}, p19ARF; IsoId=Q8N726-1; Sequence=Displayed; Name=1 {ECO:0000305}; Synonyms=p16INK4a {ECO:0000305}; IsoId=P42771-1; Sequence=External; Name=2 {ECO:0000305}; IsoId=P42771-2; Sequence=External; Name=3 {ECO:0000305}; Synonyms=p12 {ECO:0000305}; IsoId=P42771-3; Sequence=External; Name=5; Synonyms=p16gamma; IsoId=P42771-4; Sequence=External; Note=Barely detectable in non-tumor cells.; Name=smARF; IsoId=Q8N726-2; Sequence=VSP_044962; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:16173922, ECO:0000269|PubMed:18305112, ECO:0000269|PubMed:22094112, ECO:0000269|PubMed:27323397}. Nucleus, nucleoplasm {ECO:0000269|PubMed:18305112, ECO:0000269|PubMed:27323397}.; SUBCELLULAR LOCATION: Isoform smARF: Mitochondrion {ECO:0000269|PubMed:16713577}.


uniprotID: A8MVX0
geneSymbol: ARHGEF33
reactome: R-HSA-193648;R-HSA-194840;R-HSA-416482;
name: Rho guanine nucleotide exchange factor 33
length: 844
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A8MVX0-1; Sequence=Displayed; Name=2; IsoId=A8MVX0-2; Sequence=VSP_044905; Note=No experimental confirmation available.; 


uniprotID: Q8WTX7
geneSymbol: CASTOR1
pdb: 5GS9;5GT7;5GT8;5GV2;5I2C;
length: 329
go: ENSG00000239282;
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:26972053}.
name:
Cytosolic arginine sensor for mTORC1 subunit 1 (Cellular arginine sensor for mTORC1 protein 1) (GATS-like protein 3)

sequence:

opentargets:
cytosol [GO:0005829]; arginine binding [GO:0034618]; identical protein binding [GO:0042802]; cellular response to L-arginine [GO:1903577]; negative regulation of TORC1 signaling [GO:1904262]; regulation of intracellular signal transduction [GO:1902531]


uniprotID: Q8NAP1
geneSymbol: CASTOR3
name: Putative protein CASTOR 3 (STAG3 opposite strand transcript protein)
length: 163
go: ENSG00000239521;
sequence:
MSCRGRGAGGRWNSTSWSTGCKLPASPRRVSRCSPTGLIKLAFLFSKTRCKFFSLTETPEDYTIIVDEEGFLELPSSEHLSVADATWLALNVVSGGGSFSSSQPIGMTKIAKSVIAPLADQNISVFMLSTYQTDFILVLKRDLPFVTHTLSSEFTILWSVARL

opentargets:
cytosol [GO:0005829]; cellular response to L-arginine [GO:1903577]; negative regulation of TORC1 signaling [GO:1904262]; regulation of intracellular signal transduction [GO:1902531]


uniprotID: Q9BVK2
geneSymbol: ALG8
reactome: R-HSA-446193;R-HSA-4724325;
length: 526
go: ENSG00000159063;
snps: rs121908293 rs665278 rs121908294 rs17825668
name:
Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase (EC 2.4.1.265) (Asparagine-linked glycosylation protein 8 homolog) (Dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase) (Dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; alpha-1,3-mannosyltransferase activity [GO:0000033]; dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity [GO:0042281]; dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity [GO:0004583]; dolichol-linked oligosaccharide biosynthetic process [GO:0006488]; oligosaccharide-lipid intermediate biosynthetic process [GO:0006490]; protein N-linked glycosylation [GO:0006487]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BVK2-1; Sequence=Displayed; Name=2; IsoId=Q9BVK2-2; Sequence=VSP_046291; Note=No experimental confirmation available.; 


uniprotID: Q9BT30
geneSymbol: ALKBH7
pdb: 4QKB;4QKD;4QKF;
length: 221
go: ENSG00000125652;
snps: rs7540
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:23666923}.
name:
Alpha-ketoglutarate-dependent dioxygenase alkB homolog 7, mitochondrial (EC 1.14.11.-) (Alkylated DNA repair protein alkB homolog 7) (Spermatogenesis cell proliferation-related protein) (Spermatogenesis-associated protein 11)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; dioxygenase activity [GO:0051213]; metal ion binding [GO:0046872]; cellular response to DNA damage stimulus [GO:0006974]; fatty acid metabolic process [GO:0006631]; regulation of lipid storage [GO:0010883]; regulation of mitochondrial membrane permeability involved in programmed necrotic cell death [GO:1902445]


uniprotID: Q9BWT7
geneSymbol: CARD10
name: Caspase recruitment domain-containing protein 10 (CARD-containing MAGUK protein 3) (Carma 3)
length: 1032
go: ENSG00000100065;
snps: rs9610775
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
CBM complex [GO:0032449]; cytoplasm [GO:0005737]; receptor signaling complex scaffold activity [GO:0030159]; activation of NF-kappaB-inducing kinase activity [GO:0007250]; negative regulation of cell migration involved in sprouting angiogenesis [GO:0090051]; positive regulation of protein localization to nucleus [GO:1900182]; protein-containing complex assembly [GO:0065003]; regulation of apoptotic process [GO:0042981]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BWT7-1; Sequence=Displayed; Name=2; IsoId=Q9BWT7-2; Sequence=VSP_055523, VSP_055524; Note=No experimental confirmation available.; 


uniprotID: Q9UKV5
geneSymbol: AMFR
reactome: R-HSA-532668;R-HSA-901032;
pdb: 2EJS;2LVN;2LVO;2LVP;2LVQ;2LXH;2LXP;3FSH;3H8K;3TIW;4G3O;4LAD;
length: 643
go: ENSG00000159461;
snps: rs373191257
name:
E3 ubiquitin-protein ligase AMFR (EC 2.3.2.27) (Autocrine motility factor receptor) (AMF receptor) (RING finger protein 45) (RING-type E3 ubiquitin transferase AMFR) (gp78)

sequence:

opentargets:
dendrite [GO:0030425]; Derlin-1 retrotranslocation complex [GO:0036513]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum quality control compartment [GO:0044322]; Golgi apparatus [GO:0005794]; growth cone [GO:0030426]; integral component of endoplasmic reticulum membrane [GO:0030176]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; neuronal cell body [GO:0043025]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; protein-containing complex [GO:0032991]; BAT3 complex binding [GO:1904288]; chaperone binding [GO:0051087]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; protein binding, bridging [GO:0030674]; signaling receptor activity [GO:0038023]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; ubiquitin-specific protease binding [GO:1990381]; ubiquitin-ubiquitin ligase activity [GO:0034450]; aging [GO:0007568]; endoplasmic reticulum mannose trimming [GO:1904380]; endoplasmic reticulum unfolded protein response [GO:0030968]; learning or memory [GO:0007611]; positive regulation of protein binding [GO:0032092]; protein autoubiquitination [GO:0051865]; protein complex oligomerization [GO:0051259]; protein folding [GO:0006457]; protein K48-linked ubiquitination [GO:0070936]; protein polyubiquitination [GO:0000209]; signal transduction [GO:0007165]; ubiquitin-dependent ERAD pathway [GO:0030433]; ubiquitin-dependent protein catabolic process [GO:0006511]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:11724934, ECO:0000269|PubMed:22728137}; Multi-pass membrane protein {ECO:0000269|PubMed:11724934}. Note=Palmitoylation promotes localization to the peripheral endoplasmic reticulum. {ECO:0000269|PubMed:22728137}.


uniprotID: P35414
geneSymbol: APLNR
reactome: R-HSA-375276;R-HSA-418594;
pdb: 2LOT;2LOU;2LOV;2LOW;5VBL;
length: 380
go: ENSG00000134817;
snps: rs7943508
name:
Apelin receptor (Angiotensin receptor-like 1) (G-protein coupled receptor APJ) (G-protein coupled receptor HG11)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; signaling receptor activity [GO:0038023]; adult heart development [GO:0007512]; angiogenesis [GO:0001525]; coronary vasculature development [GO:0060976]; G protein-coupled receptor signaling pathway [GO:0007186]; gastrulation [GO:0007369]; heart development [GO:0007507]; negative regulation of cAMP-mediated signaling [GO:0043951]; positive regulation of angiogenesis [GO:0045766]; positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis [GO:1903589]; positive regulation of inhibitory G protein-coupled receptor phosphorylation [GO:1904325]; positive regulation of release of sequestered calcium ion into cytosol [GO:0051281]; regulation of body fluid levels [GO:0050878]; vasculogenesis [GO:0001570]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:25639753}. Note=After exposure to apelin (APLN), internalized from the cell surface into an endosomal recycling compartment, from where it is recycled to the cell membrane (By similarity). After exposure to apelin receptor early endogenous ligand (APELA), internalized from the cell surface into an endosomal recycling compartment, from where it is recycled to the cell membrane (PubMed:25639753). {ECO:0000250|UniProtKB:Q9JHG3, ECO:0000269|PubMed:25639753}.


uniprotID: Q06481
geneSymbol: APLP2
reactome: R-HSA-114608;R-HSA-381426;R-HSA-8957275;
pdb: 5JBT;5TPT;
name: Amyloid-like protein 2 (APLP-2) (APPH) (Amyloid protein homolog) (CDEI box-binding protein) (CDEBP)
length: 763
go: ENSG00000084234;
snps: rs3740881
sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; platelet alpha granule membrane [GO:0031092]; DNA binding [GO:0003677]; heparin binding [GO:0008201]; identical protein binding [GO:0042802]; serine-type endopeptidase inhibitor activity [GO:0004867]; transition metal ion binding [GO:0046914]; cellular protein metabolic process [GO:0044267]; G protein-coupled receptor signaling pathway [GO:0007186]; platelet degranulation [GO:0002576]; post-translational protein modification [GO:0043687]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q06481-1; Sequence=Displayed; Name=2; IsoId=Q06481-2; Sequence=VSP_000018; Name=3; IsoId=Q06481-3; Sequence=VSP_000019; Name=4; IsoId=Q06481-4; Sequence=VSP_000018, VSP_046882, VSP_000019; Name=5; IsoId=Q06481-5; Sequence=VSP_030921, VSP_000019; Note=No experimental confirmation available.; Name=6; IsoId=Q06481-6; Sequence=VSP_046881, VSP_000019; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Nucleus {ECO:0000305}.


uniprotID: P02647
geneSymbol: APOA1
pdb: 1AV1;1GW3;1GW4;1ODP;1ODQ;1ODR;2MSC;2MSD;2MSE;2N5E;3K2S;3R2P;4V6M;6CC9;6CCH;6CCX;
length: 267
go: ENSG00000118137;
location: SUBCELLULAR LOCATION: Secreted.
reactome:
R-HSA-114608;R-HSA-1369062;R-HSA-1989781;R-HSA-2168880;R-HSA-3000471;R-HSA-3000480;R-HSA-381426;R-HSA-8957275;R-HSA-8963888;R-HSA-8963896;R-HSA-8963901;R-HSA-8964011;R-HSA-8964058;R-HSA-975634;R-HSA-977225;

name:
Apolipoprotein A-I (Apo-AI) (ApoA-I) (Apolipoprotein A1) [Cleaved into: Proapolipoprotein A-I (ProapoA-I); Truncated apolipoprotein A-I (Apolipoprotein A-I(1-242))]

sequence:

opentargets:
blood microparticle [GO:0072562]; cell surface [GO:0009986]; chylomicron [GO:0042627]; collagen-containing extracellular matrix [GO:0062023]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; discoidal high-density lipoprotein particle [GO:0034365]; early endosome [GO:0005769]; endocytic vesicle [GO:0030139]; endocytic vesicle lumen [GO:0071682]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extracellular vesicle [GO:1903561]; high-density lipoprotein particle [GO:0034364]; intermediate-density lipoprotein particle [GO:0034363]; low-density lipoprotein particle [GO:0034362]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; secretory granule lumen [GO:0034774]; spherical high-density lipoprotein particle [GO:0034366]; very-low-density lipoprotein particle [GO:0034361]; amyloid-beta binding [GO:0001540]; apolipoprotein A-I receptor binding [GO:0034191]; apolipoprotein receptor binding [GO:0034190]; chemorepellent activity [GO:0045499]; cholesterol binding [GO:0015485]; cholesterol transporter activity [GO:0017127]; enzyme binding [GO:0019899]; heat shock protein binding [GO:0031072]; high-density lipoprotein particle binding [GO:0008035]; high-density lipoprotein particle receptor binding [GO:0070653]; identical protein binding [GO:0042802]; lipase inhibitor activity [GO:0055102]; phosphatidylcholine-sterol O-acyltransferase activator activity [GO:0060228]; phospholipid binding [GO:0005543]; phospholipid transporter activity [GO:0005548]; adrenal gland development [GO:0030325]; animal organ regeneration [GO:0031100]; blood vessel endothelial cell migration [GO:0043534]; cellular protein metabolic process [GO:0044267]; cholesterol biosynthetic process [GO:0006695]; cholesterol efflux [GO:0033344]; cholesterol homeostasis [GO:0042632]; cholesterol import [GO:0070508]; cholesterol metabolic process [GO:0008203]; cholesterol transport [GO:0030301]; chylomicron assembly [GO:0034378]; chylomicron remodeling [GO:0034371]; endothelial cell proliferation [GO:0001935]; G protein-coupled receptor signaling pathway [GO:0007186]; glucocorticoid metabolic process [GO:0008211]; high-density lipoprotein particle assembly [GO:0034380]; high-density lipoprotein particle clearance [GO:0034384]; high-density lipoprotein particle remodeling [GO:0034375]; integrin-mediated signaling pathway [GO:0007229]; lipid storage [GO:0019915]; lipoprotein biosynthetic process [GO:0042158]; lipoprotein metabolic process [GO:0042157]; negative chemotaxis [GO:0050919]; negative regulation of cell adhesion molecule production [GO:0060354]; negative regulation of cytokine secretion involved in immune response [GO:0002740]; negative regulation of heterotypic cell-cell adhesion [GO:0034115]; negative regulation of inflammatory response [GO:0050728]; negative regulation of interleukin-1 beta secretion [GO:0050713]; negative regulation of lipase activity [GO:0060192]; negative regulation of response to cytokine stimulus [GO:0060761]; negative regulation of tumor necrosis factor-mediated signaling pathway [GO:0010804]; negative regulation of very-low-density lipoprotein particle remodeling [GO:0010903]; peptidyl-methionine modification [GO:0018206]; peripheral nervous system axon regeneration [GO:0014012]; phosphatidylcholine biosynthetic process [GO:0006656]; phospholipid efflux [GO:0033700]; phospholipid homeostasis [GO:0055091]; platelet degranulation [GO:0002576]; positive regulation of cholesterol esterification [GO:0010873]; positive regulation of hydrolase activity [GO:0051345]; positive regulation of lipid biosynthetic process [GO:0046889]; positive regulation of Rho protein signal transduction [GO:0035025]; positive regulation of stress fiber assembly [GO:0051496]; positive regulation of substrate adhesion-dependent cell spreading [GO:1900026]; post-translational protein modification [GO:0043687]; protein oxidation [GO:0018158]; protein stabilization [GO:0050821]; receptor-mediated endocytosis [GO:0006898]; regulation of Cdc42 protein signal transduction [GO:0032489]; regulation of cholesterol transport [GO:0032374]; regulation of intestinal cholesterol absorption [GO:0030300]; regulation of lipid metabolic process [GO:0019216]; regulation of protein phosphorylation [GO:0001932]; response to drug [GO:0042493]; response to estrogen [GO:0043627]; response to nutrient [GO:0007584]; retinoid metabolic process [GO:0001523]; reverse cholesterol transport [GO:0043691]; triglyceride catabolic process [GO:0019433]; triglyceride homeostasis [GO:0070328]; very-low-density lipoprotein particle remodeling [GO:0034372]; vitamin transport [GO:0051180]

snps:
rs121912720 rs121912720 rs121912721 rs28929476 rs28931574 rs12718465 rs121912724 rs766422306 rs150243849 rs5077 rs921646982 rs4882 rs121912718 rs758509542 rs121912719 rs1015066427 rs121912727 rs5078 rs121912722 rs28931573 rs121912717 


uniprotID: P02652
geneSymbol: APOA2
reactome: R-HSA-1989781;R-HSA-381426;R-HSA-8957275;R-HSA-8963888;R-HSA-8963901;R-HSA-975634;
length: 100
go: ENSG00000158874;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:24116940}.
name:
Apolipoprotein A-II (Apo-AII) (ApoA-II) (Apolipoprotein A2) [Cleaved into: Proapolipoprotein A-II (ProapoA-II); Truncated apolipoprotein A-II (Apolipoprotein A-II(1-76))]

sequence:
MKLLAATVLLLTICSLEGALVRRQAKEPCVESLVSQYFQTVTDYGKDLMEKVKSPELQAEAKSYFEKSKEQLTPLIKKAGTELVNFLSYFVELGTQPATQ

opentargets:
blood microparticle [GO:0072562]; chylomicron [GO:0042627]; cytosol [GO:0005829]; early endosome [GO:0005769]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; high-density lipoprotein particle [GO:0034364]; spherical high-density lipoprotein particle [GO:0034366]; very-low-density lipoprotein particle [GO:0034361]; apolipoprotein receptor binding [GO:0034190]; cholesterol binding [GO:0015485]; cholesterol transporter activity [GO:0017127]; heat shock protein binding [GO:0031072]; high-density lipoprotein particle binding [GO:0008035]; high-density lipoprotein particle receptor binding [GO:0070653]; lipase inhibitor activity [GO:0055102]; lipid binding [GO:0008289]; lipid transporter activity [GO:0005319]; phosphatidylcholine binding [GO:0031210]; phosphatidylcholine-sterol O-acyltransferase activator activity [GO:0060228]; phospholipid binding [GO:0005543]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; acute inflammatory response [GO:0002526]; animal organ regeneration [GO:0031100]; cellular protein metabolic process [GO:0044267]; cholesterol efflux [GO:0033344]; cholesterol homeostasis [GO:0042632]; cholesterol metabolic process [GO:0008203]; cholesterol transport [GO:0030301]; chylomicron assembly [GO:0034378]; chylomicron remodeling [GO:0034371]; diacylglycerol catabolic process [GO:0046340]; high-density lipoprotein particle assembly [GO:0034380]; high-density lipoprotein particle clearance [GO:0034384]; high-density lipoprotein particle remodeling [GO:0034375]; lipoprotein metabolic process [GO:0042157]; low-density lipoprotein particle remodeling [GO:0034374]; negative regulation of cholesterol import [GO:0060621]; negative regulation of cholesterol transport [GO:0032375]; negative regulation of cholesterol transporter activity [GO:0060695]; negative regulation of cytokine secretion involved in immune response [GO:0002740]; negative regulation of lipase activity [GO:0060192]; negative regulation of lipid catabolic process [GO:0050995]; negative regulation of very-low-density lipoprotein particle remodeling [GO:0010903]; peptidyl-methionine modification [GO:0018206]; phosphatidylcholine biosynthetic process [GO:0006656]; phospholipid catabolic process [GO:0009395]; phospholipid efflux [GO:0033700]; positive regulation of cholesterol esterification [GO:0010873]; positive regulation of interleukin-8 biosynthetic process [GO:0045416]; positive regulation of lipid catabolic process [GO:0050996]; post-translational protein modification [GO:0043687]; protein oxidation [GO:0018158]; regulation of intestinal cholesterol absorption [GO:0030300]; regulation of lipid metabolic process [GO:0019216]; regulation of protein stability [GO:0031647]; response to drug [GO:0042493]; response to estrogen [GO:0043627]; response to glucocorticoid [GO:0051384]; response to glucose [GO:0009749]; retinoid metabolic process [GO:0001523]; reverse cholesterol transport [GO:0043691]; triglyceride metabolic process [GO:0006641]; triglyceride-rich lipoprotein particle remodeling [GO:0034370]; viral process [GO:0016032]


uniprotID: P02655
geneSymbol: APOC2
reactome: R-HSA-8963888;R-HSA-8963889;R-HSA-8963901;R-HSA-8964058;R-HSA-975634;
pdb: 1BY6;1I5J;1O8T;1SOH;
length: 101
go: ENSG00000234906;
snps: rs120074114 rs120074115 rs5122 rs5126
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:3525527}.
name:
Apolipoprotein C-II (Apo-CII) (ApoC-II) (Apolipoprotein C2) [Cleaved into: Proapolipoprotein C-II (ProapoC-II)]

sequence:
MGTRLLPALFLVLLVLGFEVQGTQQPQQDEMPSPTFLTQVKESLSSYWESAKTAAQNLYEKTYLPAVDEKLRDLYSKSTAAMSTYTGIFTDQVLSVLKGEE

opentargets:
chylomicron [GO:0042627]; early endosome [GO:0005769]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; intermediate-density lipoprotein particle [GO:0034363]; low-density lipoprotein particle [GO:0034362]; spherical high-density lipoprotein particle [GO:0034366]; very-low-density lipoprotein particle [GO:0034361]; lipase inhibitor activity [GO:0055102]; lipid binding [GO:0008289]; lipoprotein lipase activator activity [GO:0060230]; phospholipase activator activity [GO:0016004]; phospholipase binding [GO:0043274]; protein homodimerization activity [GO:0042803]; cholesterol efflux [GO:0033344]; cholesterol homeostasis [GO:0042632]; chylomicron assembly [GO:0034378]; chylomicron remnant clearance [GO:0034382]; chylomicron remodeling [GO:0034371]; high-density lipoprotein particle clearance [GO:0034384]; high-density lipoprotein particle remodeling [GO:0034375]; lipid catabolic process [GO:0016042]; lipoprotein transport [GO:0042953]; negative regulation of cholesterol transport [GO:0032375]; negative regulation of lipid metabolic process [GO:0045833]; negative regulation of receptor-mediated endocytosis [GO:0048261]; negative regulation of very-low-density lipoprotein particle clearance [GO:0010916]; phospholipid efflux [GO:0033700]; positive regulation of fatty acid biosynthetic process [GO:0045723]; positive regulation of lipoprotein lipase activity [GO:0051006]; positive regulation of phospholipase activity [GO:0010518]; positive regulation of phospholipid catabolic process [GO:0060697]; positive regulation of triglyceride catabolic process [GO:0010898]; positive regulation of very-low-density lipoprotein particle remodeling [GO:0010902]; response to drug [GO:0042493]; retinoid metabolic process [GO:0001523]; reverse cholesterol transport [GO:0043691]; triglyceride homeostasis [GO:0070328]; triglyceride-rich lipoprotein particle remodeling [GO:0034370]; very-low-density lipoprotein particle remodeling [GO:0034372]


uniprotID: P02656
geneSymbol: APOC3
reactome: R-HSA-8963888;R-HSA-8963901;R-HSA-8964058;R-HSA-975634;
pdb: 2JQ3;
name: Apolipoprotein C-III (Apo-CIII) (ApoC-III) (Apolipoprotein C3)
sequence: MQPRVLLVVALLALLASARASEAEDASLLSFMQGYMKHATKTAKDALSSVQESQVAQQARGWVTDGFSSLKDYWSTVKDKFSEFWDLDPEVRPTSAVAA
length: 99
go: ENSG00000110245;
snps: rs121918382 rs121918381
location: SUBCELLULAR LOCATION: Secreted {ECO:0000303|PubMed:18201179, ECO:0000303|PubMed:22510806}.
opentargets:
chylomicron [GO:0042627]; collagen-containing extracellular matrix [GO:0062023]; early endosome [GO:0005769]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; intermediate-density lipoprotein particle [GO:0034363]; spherical high-density lipoprotein particle [GO:0034366]; very-low-density lipoprotein particle [GO:0034361]; cholesterol binding [GO:0015485]; enzyme regulator activity [GO:0030234]; high-density lipoprotein particle receptor binding [GO:0070653]; lipase inhibitor activity [GO:0055102]; phospholipid binding [GO:0005543]; cholesterol efflux [GO:0033344]; cholesterol homeostasis [GO:0042632]; chylomicron assembly [GO:0034378]; chylomicron remnant clearance [GO:0034382]; chylomicron remodeling [GO:0034371]; G protein-coupled receptor signaling pathway [GO:0007186]; high-density lipoprotein particle remodeling [GO:0034375]; lipoprotein metabolic process [GO:0042157]; negative regulation of cholesterol import [GO:0060621]; negative regulation of fatty acid biosynthetic process [GO:0045717]; negative regulation of high-density lipoprotein particle clearance [GO:0010987]; negative regulation of lipid catabolic process [GO:0050995]; negative regulation of lipid metabolic process [GO:0045833]; negative regulation of lipoprotein lipase activity [GO:0051005]; negative regulation of low-density lipoprotein particle clearance [GO:0010989]; negative regulation of receptor-mediated endocytosis [GO:0048261]; negative regulation of triglyceride catabolic process [GO:0010897]; negative regulation of very-low-density lipoprotein particle clearance [GO:0010916]; negative regulation of very-low-density lipoprotein particle remodeling [GO:0010903]; phospholipid efflux [GO:0033700]; regulation of Cdc42 protein signal transduction [GO:0032489]; retinoid metabolic process [GO:0001523]; reverse cholesterol transport [GO:0043691]; triglyceride catabolic process [GO:0019433]; triglyceride homeostasis [GO:0070328]; triglyceride metabolic process [GO:0006641]; very-low-density lipoprotein particle assembly [GO:0034379]


uniprotID: Q13790
geneSymbol: APOF
reactome: R-HSA-8964041;
name: Apolipoprotein F (Apo-F) (Lipid transfer inhibitor protein) (LTIP)
length: 326
go: ENSG00000175336;
snps: rs11575216
sequence:

opentargets:
extracellular space [GO:0005615]; high-density lipoprotein particle [GO:0034364]; low-density lipoprotein particle [GO:0034362]; cholesterol binding [GO:0015485]; lipid transporter activity [GO:0005319]; signaling receptor binding [GO:0005102]; cholesterol metabolic process [GO:0008203]; lipid metabolic process [GO:0006629]; lipid transport [GO:0006869]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:204339, ECO:0000269|PubMed:28935895, ECO:0000269|PubMed:8093033}.


uniprotID: Q8IVJ8
geneSymbol: APRG1
name: AP20 region protein 1
length: 170
opentargets: integral component of membrane [GO:0016021]
snps: rs17266511
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MKTMATRKRCKLSRTGPEFENVIKRLLCARTFHTRIGGDLTHGIINRGRRANAEQMGLQGSAQHFNIFPLDLWTQGKKTEVQKREGTDSIPAAGRSGTANQPSIAPHRCLFSRGITALDGLKRGRGCNGAAHLVRGDAWKTKLGEPWVSIALALAGPGAILILELSWFLG

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=B; IsoId=Q8IVJ8-1; Sequence=Displayed; Name=2; Synonyms=A; IsoId=Q8IVJ8-2; Sequence=VSP_025845; Name=3; Synonyms=E; IsoId=Q8IVJ8-3; Sequence=VSP_025846; 


uniprotID: Q53RT3
geneSymbol: ASPRV1
length: 343
go: ENSG00000244617;
snps: rs3796097
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass membrane protein {ECO:0000255}.
name:
Retroviral-like aspartic protease 1 (EC 3.4.23.-) (Skin-specific retroviral-like aspartic protease) (SASPase) (Skin aspartic protease) (TPA-inducible aspartic proteinase-like protein) (TAPS)

sequence:

opentargets:
integral component of membrane [GO:0016021]; aspartic-type endopeptidase activity [GO:0004190]; protein processing [GO:0016485]; skin development [GO:0043588]


uniprotID: Q13794
geneSymbol: PMAIP1
reactome: R-HSA-111448;R-HSA-111453;R-HSA-6803204;
pdb: 3MQP;
sequence: MPGKKARKNAQPSPARAPAELEVECATQLRRFGDKLNFRQKLLNLISKLFCSGT
length: 54
go: ENSG00000141682;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:15705586, ECO:0000269|PubMed:17374615}.
name:
Phorbol-12-myristate-13-acetate-induced protein 1 (PMA-induced protein 1) (Immediate-early-response protein APR) (Protein Noxa)

opentargets:
cytosol [GO:0005829]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; apoptotic process [GO:0006915]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to glucose starvation [GO:0042149]; cellular response to hypoxia [GO:0071456]; defense response to virus [GO:0051607]; intrinsic apoptotic signaling pathway [GO:0097193]; intrinsic apoptotic signaling pathway by p53 class mediator [GO:0072332]; negative regulation of mitochondrial membrane potential [GO:0010917]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of DNA damage response, signal transduction by p53 class mediator [GO:0043517]; positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway [GO:1902237]; positive regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902043]; positive regulation of glucose metabolic process [GO:0010907]; positive regulation of intrinsic apoptotic signaling pathway [GO:2001244]; positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway [GO:1900740]; positive regulation of protein oligomerization [GO:0032461]; positive regulation of release of cytochrome c from mitochondria [GO:0090200]; proteasomal protein catabolic process [GO:0010498]; protein insertion into mitochondrial membrane involved in apoptotic signaling pathway [GO:0001844]; reactive oxygen species metabolic process [GO:0072593]; regulation of apoptotic process [GO:0042981]; regulation of mitochondrial membrane permeability [GO:0046902]; release of cytochrome c from mitochondria [GO:0001836]; response to dsRNA [GO:0043331]; T cell homeostasis [GO:0043029]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13794-1; Sequence=Displayed; Name=2; IsoId=Q13794-2; Sequence=VSP_056247; Note=No experimental confirmation available.; 


uniprotID: O95236
geneSymbol: APOL3
name: Apolipoprotein L3 (Apolipoprotein L-III) (ApoL-III) (TNF-inducible protein CG12-1) (CG12_1)
length: 402
go: ENSG00000128284;
snps: rs132653 rs6000152
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; membrane [GO:0016020]; lipid binding [GO:0008289]; lipid transporter activity [GO:0005319]; inflammatory response [GO:0006954]; lipoprotein metabolic process [GO:0042157]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O95236-1; Sequence=Displayed; Name=2; IsoId=O95236-2; Sequence=VSP_000293; Name=3; IsoId=O95236-3; Sequence=VSP_000294; 


uniprotID: Q9BPW4
geneSymbol: APOL4
name: Apolipoprotein L4 (Apolipoprotein L-IV) (ApoL-IV)
length: 351
go: ENSG00000100336;
snps: rs132736 rs80587 rs132700 rs2227168 rs6000173 rs6000172
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular space [GO:0005615]; intracellular membrane-bounded organelle [GO:0043231]; lipid binding [GO:0008289]; lipid metabolic process [GO:0006629]; lipid transport [GO:0006869]; lipoprotein metabolic process [GO:0042157]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=B; IsoId=Q9BPW4-1; Sequence=Displayed; Name=2; Synonyms=A; IsoId=Q9BPW4-2; Sequence=VSP_000295; Name=3; IsoId=Q9BPW4-3; Sequence=VSP_000295, VSP_024380; 


uniprotID: Q9BWW9
geneSymbol: APOL5
name: Apolipoprotein L5 (Apolipoprotein L-V) (ApoL-V)
length: 433
go: ENSG00000128313;
snps: rs5999985 rs2076671 rs2076672 rs2076673
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; high-density lipoprotein particle binding [GO:0008035]; lipid binding [GO:0008289]; lipid metabolic process [GO:0006629]; lipid transport [GO:0006869]; lipoprotein metabolic process [GO:0042157]


uniprotID: Q7Z2E3
geneSymbol: APTX
pdb: 3KT9;4NDF;4NDG;4NDH;4NDI;6CVO;6CVP;6CVQ;6CVR;6CVS;6CVT;
length: 356
go: ENSG00000137074;
snps: rs748165574 rs150886026 rs121908133 rs121908131 rs267606665 rs121908132 rs773393618
name:
Aprataxin (EC 3.1.11.7) (EC 3.1.12.2) (Forkhead-associated domain histidine triad-like protein) (FHA-HIT)

sequence:

opentargets:
chromatin [GO:0000785]; cytoplasm [GO:0005737]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; damaged DNA binding [GO:0003684]; DNA 5'-adenosine monophosphate hydrolase activity [GO:0033699]; DNA-3'-diphospho-5'-guanosine diphosphatase [GO:0120108]; double-stranded DNA binding [GO:0003690]; double-stranded RNA binding [GO:0003725]; metal ion binding [GO:0046872]; mismatched DNA binding [GO:0030983]; phosphoglycolate phosphatase activity [GO:0008967]; phosphoprotein binding [GO:0051219]; polynucleotide 3'-phosphatase activity [GO:0046403]; protein N-terminus binding [GO:0047485]; single-strand break-containing DNA binding [GO:1990165]; single-stranded DNA binding [GO:0003697]; cellular response to DNA damage stimulus [GO:0006974]; DNA ligation [GO:0006266]; double-strand break repair [GO:0006302]; regulation of protein stability [GO:0031647]; response to hydrogen peroxide [GO:0042542]; single strand break repair [GO:0000012]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=13;  Name=1; Synonyms=Long {ECO:0000303|PubMed:14755728}; IsoId=Q7Z2E3-1; Sequence=Displayed; Note=Major form. {ECO:0000305|PubMed:14755728}; Name=2; Synonyms=Short {ECO:0000303|PubMed:14755728}; IsoId=Q7Z2E3-2; Sequence=VSP_010535; Note=Minor form. {ECO:0000305|PubMed:14755728}; Name=3; IsoId=Q7Z2E3-3; Sequence=VSP_010539; Note=May be an aberrant isoform present in cancer cell lines.; Name=4; IsoId=Q7Z2E3-4; Sequence=VSP_010536; Note=May be an aberrant isoform present in cancer cell lines.; Name=5; IsoId=Q7Z2E3-5; Sequence=VSP_010537, VSP_010538; Note=May be an aberrant isoform present in cancer cell lines.; Name=6; IsoId=Q7Z2E3-6; Sequence=VSP_010534, VSP_010541; Note=May be an aberrant isoform present in cancer cell lines.; Name=7; IsoId=Q7Z2E3-7; Sequence=VSP_010537; Name=8; IsoId=Q7Z2E3-8; Sequence=VSP_010540; Note=May be an aberrant isoform present in cancer cell lines.; Name=9; IsoId=Q7Z2E3-9; Sequence=VSP_010537, VSP_010541; Note=No experimental confirmation available.; Name=10; IsoId=Q7Z2E3-10; Sequence=VSP_010538; Note=May be an aberrant isoform present in cancer cell lines.; Name=11; IsoId=Q7Z2E3-11; Sequence=VSP_010541; Note=No experimental confirmation available.; Name=12; Synonyms=LP2, LP2E5, LP2P3, LP2P3E5; IsoId=Q7Z2E3-12; Sequence=VSP_010537, VSP_044091, VSP_044092; Name=13; Synonyms=LE5; IsoId=Q7Z2E3-13; Sequence=VSP_010537, VSP_044093; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:14755728, ECO:0000269|PubMed:15044383, ECO:0000269|PubMed:15276230, ECO:0000269|PubMed:15380105}. Nucleus, nucleolus {ECO:0000269|PubMed:15044383, ECO:0000269|PubMed:16777843}. Note=Upon genotoxic stress, colocalizes with XRCC1 at sites of DNA damage (PubMed:15380105). Colocalizes with MDC1 at sites of DNA double-strand breaks (PubMed:20008512). Interaction with NCL is required for nucleolar localization (PubMed:16777843). {ECO:0000269|PubMed:15044383, ECO:0000269|PubMed:15380105, ECO:0000269|PubMed:20008512}.; SUBCELLULAR LOCATION: Isoform 12: Cytoplasm {ECO:0000269|PubMed:15276230}.


uniprotID: Q8ND23
geneSymbol: CARMIL3
length: 1372
go: ENSG00000186648;
opentargets: cytoplasm [GO:0005737]; plasma membrane [GO:0005886]
snps: rs10146906
name:
Capping protein, Arp2/3 and myosin-I linker protein 3 (Capping protein regulator and myosin 1 linker protein 3) (Leucine-rich repeat-containing protein 16B)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8ND23-1; Sequence=Displayed; Name=2; IsoId=Q8ND23-2; Sequence=VSP_032305, VSP_032309; Note=No experimental confirmation available.; Name=3; IsoId=Q8ND23-3; Sequence=VSP_032306, VSP_032307, VSP_032308; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21102520}. Cell membrane {ECO:0000269|PubMed:26578515}.


uniprotID: P47710
geneSymbol: CSN1S1
reactome: R-HSA-5223345;
name: Alpha-S1-casein [Cleaved into: Casoxin-D]
length: 185
go: ENSG00000126545;
snps: rs10030475
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MRLLILTCLVAVALARPKLPLRYPERLQNPSESSEPIPLESREEYMNGMNRQRNILREKQTDEIKDTRNESTQNCVVAEPEKMESSISSSSEEMSLSKCAEQFCRLNEYNQLQLQAAHAQEQIRRMNENSHVQVPFQQLNQLAAYPYAVWYYPQIMQYVPFPPFSDISNPTAHENYEKNNVMLQW

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; response to 11-deoxycorticosterone [GO:1903496]; response to dehydroepiandrosterone [GO:1903494]; response to estradiol [GO:0032355]; response to progesterone [GO:0032570]; transmembrane transport [GO:0055085]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P47710-1; Sequence=Displayed; Name=2; IsoId=P47710-2; Sequence=VSP_000795; Name=3; IsoId=P47710-3; Sequence=VSP_000796; Name=4; IsoId=P47710-4; Sequence=VSP_000795, VSP_046130; 


uniprotID: Q15041
geneSymbol: ARL6IP1
length: 203
go: ENSG00000170540;
name:
ADP-ribosylation factor-like protein 6-interacting protein 1 (ARL-6-interacting protein 1) (Aip-1) (Apoptotic regulator in the membrane of the endoplasmic reticulum)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; integral component of endoplasmic reticulum membrane [GO:0030176]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; Sec61 translocon complex [GO:0005784]; identical protein binding [GO:0042802]; apoptotic process [GO:0006915]; cotranslational protein targeting to membrane [GO:0006613]; endoplasmic reticulum tubular network formation [GO:0071787]; endoplasmic reticulum tubular network membrane organization [GO:1990809]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; positive regulation of L-glutamate import across plasma membrane [GO:0002038]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q15041-1; Sequence=Displayed; Name=2; IsoId=Q15041-2; Sequence=VSP_057297; Note=No experimental confirmation available.; Name=3; IsoId=Q15041-3; Sequence=VSP_057298; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endomembrane system {ECO:0000269|PubMed:10995579}; Multi-pass membrane protein {ECO:0000269|PubMed:10995579}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:12754298, ECO:0000269|PubMed:24076029, ECO:0000269|PubMed:24262037}; Multi-pass membrane protein {ECO:0000269|PubMed:24076029}. Endoplasmic reticulum {ECO:0000250|UniProtKB:Q9JKW0}. Note=Predominantly localized to intracytoplasmic membranes. Preferentially localizes at the ER tubules and the edge of the ER sheets, both of which are characterized by a high membrane curvature. {ECO:0000269|PubMed:24262037}.


uniprotID: O94778
geneSymbol: AQP8
reactome: R-HSA-3299685;R-HSA-432047;
name: Aquaporin-8 (AQP-8)
length: 261
go: ENSG00000103375;
snps: rs2287798
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:

opentargets:
apical part of cell [GO:0045177]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; water channel activity [GO:0015250]; cellular response to cAMP [GO:0071320]; water transport [GO:0006833]


uniprotID: Q9Y2Y0
geneSymbol: ARL2BP
reactome: R-HSA-422356;
pdb: 2K9A;3DOE;3DOF;
length: 163
go: ENSG00000102931;
snps: rs398123053 rs7198865
name:
ADP-ribosylation factor-like protein 2-binding protein (ARF-like 2-binding protein) (ARL2-binding protein) (Binder of ARF2 protein 1)

sequence:
MDALEGESFALSFSSASDAEFDAVVGYLEDIIMDDEFQLLQRNFMDKYYLEFEDTEENKLIYTPIFNEYISLVEKYIEEQLLQRIPEFNMAAFTTTLQHHKDEVAGDIFDMLLTFTDFLAFKEMFLDYRAEKEGRGLDLSSGLVVTSLCKSSSLPASQNNLRH

opentargets:
centrosome [GO:0005813]; cilium [GO:0005929]; cytosol [GO:0005829]; midbody [GO:0030496]; mitochondrial intermembrane space [GO:0005758]; mitochondrial matrix [GO:0005759]; nucleus [GO:0005634]; spindle [GO:0005819]; GTPase regulator activity [GO:0030695]; transcription coactivator activity [GO:0003713]; maintenance of protein location in nucleus [GO:0051457]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; regulation of insulin secretion [GO:0050796]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y2Y0-1; Sequence=Displayed; Name=2; IsoId=Q9Y2Y0-2; Sequence=VSP_025317, VSP_025318; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Mitochondrion intermembrane space. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Nucleus. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, cilium basal body. Note=The complex formed with ARL2BP, ARL2 and SLC25A4 is expressed in mitochondria (By similarity). Detected in the midbody matrix. Not detected in the Golgi, nucleus and on the mitotic spindle. Centrosome-associated throughout the cell cycle. Not detected to interphase microtubules. In retina photoreceptor cells, localized in the distal connecting cilia, basal body, ciliary-associated centriole, and ciliary rootlet. Interaction with ARL2 may be required for cilia basal body localization. {ECO:0000250}.


uniprotID: A6NH13
geneSymbol: DNAJC9-AS1
length: 148
name:
Putative uncharacterized protein DNAJC9-AS1 (DNAJC9 antisense RNA 1) (DNAJC9 antisense gene protein 1)

sequence:
MPGGDTTPEEAAAPSCAGYNPGLLLFRAQKAQGACVTSTEGAWPRRASALYGGRKMRCGESGAGPDPRSNSAEVSSSQPALASKSQSKWGPTSNNPRGALTTTEFEMAGNRSQNIKHKQTALIAIPMSSQTPRMLGRPRNQGQLYPQP


uniprotID: Q9UJU6
geneSymbol: DBNL
reactome: R-HSA-264870;R-HSA-6794361;R-HSA-6798695;
pdb: 1X67;
length: 430
go: ENSG00000136279;
name:
Drebrin-like protein (Cervical SH3P7) (Cervical mucin-associated protein) (Drebrin-F) (HPK1-interacting protein of 55 kDa) (HIP-55) (SH3 domain-containing protein 7)

sequence:

opentargets:
cell cortex [GO:0005938]; cell junction [GO:0030054]; clathrin-coated vesicle membrane [GO:0030665]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; early endosome [GO:0005769]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; Golgi membrane [GO:0000139]; lamellipodium [GO:0030027]; plasma membrane [GO:0005886]; podosome [GO:0002102]; postsynaptic density [GO:0014069]; ruffle [GO:0001726]; secretory granule lumen [GO:0034774]; tertiary granule lumen [GO:1904724]; actin binding [GO:0003779]; actin filament binding [GO:0051015]; cadherin binding [GO:0045296]; enzyme activator activity [GO:0008047]; protein C-terminus binding [GO:0008022]; protein domain specific binding [GO:0019904]; activation of JUN kinase activity [GO:0007257]; adaptive immune response [GO:0002250]; neuron projection morphogenesis [GO:0048812]; neutrophil degranulation [GO:0043312]; podosome assembly [GO:0071800]; Rac protein signal transduction [GO:0016601]; receptor-mediated endocytosis [GO:0006898]; ruffle assembly [GO:0097178]; synapse assembly [GO:0007416]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q9UJU6-1; Sequence=Displayed; Name=2; IsoId=Q9UJU6-2; Sequence=VSP_011398; Note=No experimental confirmation available. {ECO:0000244|PubMed:16964243, ECO:0000244|PubMed:20068231}; Name=3; IsoId=Q9UJU6-3; Sequence=VSP_011398, VSP_011399; Note=No experimental confirmation available. {ECO:0000244|PubMed:16964243, ECO:0000244|PubMed:20068231}; Name=4; IsoId=Q9UJU6-4; Sequence=VSP_054779, VSP_011398; Name=5; IsoId=Q9UJU6-5; Sequence=VSP_054780; Name=6; IsoId=Q9UJU6-6; Sequence=VSP_057346, VSP_011398; Note=No experimental confirmation available. {ECO:0000244|PubMed:16964243, ECO:0000244|PubMed:20068231}; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q62418}. Cell projection, lamellipodium {ECO:0000250|UniProtKB:Q62418}. Cell projection, ruffle {ECO:0000250|UniProtKB:Q62418}. Cytoplasm, cell cortex {ECO:0000250|UniProtKB:Q62418}. Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q62418}. Cell junction, synapse {ECO:0000250|UniProtKB:Q62418}. Cell projection {ECO:0000250|UniProtKB:Q62418}. Cell membrane {ECO:0000269|PubMed:14729663}; Peripheral membrane protein; Cytoplasmic side {ECO:0000250}. Cytoplasmic vesicle, clathrin-coated vesicle membrane {ECO:0000250|UniProtKB:Q62418}; Peripheral membrane protein; Cytoplasmic side. Golgi apparatus membrane {ECO:0000250|UniProtKB:Q62418}; Peripheral membrane protein; Cytoplasmic side. Cell projection, podosome {ECO:0000250|UniProtKB:Q62418}. Early endosome {ECO:0000269|PubMed:14729663}. Note=Detected in neuron cell body and cell projections, such as neurites. Colocalizes with cytosolic dynamin in hippocampus neurons (By similarity). Cortical actin cytoskeleton. Associates with lamellipodial actin and membrane ruffles. Colocalizes with actin and cortactin at podosome dots and podosome rosettes (By similarity). {ECO:0000250|UniProtKB:Q62418}.


uniprotID: Q9Y485
geneSymbol: DMXL1
name: DmX-like protein 1 (X-like 1 protein)
length: 3027
go: ENSG00000172869;
opentargets: RAVE complex [GO:0043291]; vacuolar acidification [GO:0007035]
snps: rs7700801 rs4895362 rs9790916 rs9791092
sequence:


uniprotID: P28068
geneSymbol: HLA-DMB
reactome: R-HSA-2132295;
pdb: 1HDM;2BC4;4FQX;4GBX;4I0P;
length: 263
snps: rs17583782 rs41560814 rs17617333 rs17617321 rs2071555 rs2071555 rs1042337
name:
HLA class II histocompatibility antigen, DM beta chain (MHC class II antigen DMB) (Really interesting new gene 7 protein)

sequence:

opentargets:
integral component of membrane [GO:0016021]; late endosome membrane [GO:0031902]; lysosomal membrane [GO:0005765]; MHC class II protein complex [GO:0042613]; MHC class II protein complex binding [GO:0023026]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; immune response [GO:0006955]; MHC class II protein complex assembly [GO:0002399]; peptide antigen assembly with MHC class II protein complex [GO:0002503]; positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell [GO:2001190]; positive regulation of T cell proliferation [GO:0042102]

location:
SUBCELLULAR LOCATION: Late endosome membrane {ECO:0000269|PubMed:8757605}; Single-pass type I membrane protein {ECO:0000269|PubMed:8757605}. Lysosome membrane {ECO:0000269|PubMed:8757605}; Single-pass type I membrane protein {ECO:0000269|PubMed:8757605}. Note=Localizes to late endocytic compartment. Associates with lysosome membranes.


uniprotID: Q9C0D9
geneSymbol: SELENOI
reactome: R-HSA-1483213;
name: Ethanolaminephosphotransferase 1 (hEPT1) (EC 2.7.8.1) (Selenoprotein I) (SelI)
length: 397
go: ENSG00000138018;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; ethanolaminephosphotransferase activity [GO:0004307]; metal ion binding [GO:0046872]; phosphotransferase activity, for other substituted phosphate groups [GO:0016780]; phosphatidylethanolamine biosynthetic process [GO:0006646]


uniprotID: Q99645
geneSymbol: EPYC
length: 322
go: ENSG00000083782;
snps: rs17784152
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
name:
Epiphycan (Dermatan sulfate proteoglycan 3) (Proteoglycan-Lb) (PG-Lb) (Small chondroitin/dermatan sulfate proteoglycan)

sequence:

opentargets:
extracellular region [GO:0005576]; glycosaminoglycan binding [GO:0005539]; female pregnancy [GO:0007565]


uniprotID: Q5T890
geneSymbol: ERCC6L2
length: 1561
go: ENSG00000182150;
snps: rs2274654
name:
DNA excision repair protein ERCC-6-like 2 (EC 3.6.4.-) (DNA repair and recombination protein RAD26-like)

sequence:

opentargets:
cytoplasm [GO:0005737]; microtubule organizing center [GO:0005815]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; helicase activity [GO:0004386]; protein kinase binding [GO:0019901]; cellular response to reactive oxygen species [GO:0034614]; interstrand cross-link repair [GO:0036297]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5T890-1; Sequence=Displayed; Note=Gene prediction based on partial EST data.; Name=2; Synonyms=RAD26L; IsoId=Q5T890-2; Sequence=VSP_054668, VSP_054669; Name=3; IsoId=Q5T890-3; Sequence=VSP_054666, VSP_054667, VSP_054668, VSP_054669; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Mitochondrion. Note=Colocalizes with NEK6 in the centrosome. In response to DNA damage, translocates from the cytosol to mitochondria and nucleus in a reactive oxygen species (ROS)-dependent manner.


uniprotID: P04626
geneSymbol: ERBB2
length: 1255
go: ENSG00000141736;
drug: DB08916;DB04988;DB01259;DB06366;DB00072;DB05773;DB05007;
reactome:
R-HSA-1227986;R-HSA-1250196;R-HSA-1251932;R-HSA-1257604;R-HSA-1306955;R-HSA-1358803;R-HSA-1963640;R-HSA-1963642;R-HSA-2219530;R-HSA-416572;R-HSA-5673001;R-HSA-6785631;R-HSA-6811558;R-HSA-8847993;R-HSA-8863795;R-HSA-8866910;

pdb:
1MFG;1MFL;1MW4;1N8Z;1OVC;1QR1;1S78;2A91;2JWA;2KS1;2L4K;2N2A;3BE1;3H3B;3MZW;3N85;3PP0;3RCD;3WLW;3WSQ;4GFU;4HRL;4HRM;4HRN;5K33;5KWG;5MY6;5O4G;5OB4;5TQS;6ATT;

name:
Receptor tyrosine-protein kinase erbB-2 (EC 2.7.10.1) (Metastatic lymph node gene 19 protein) (MLN 19) (Proto-oncogene Neu) (Proto-oncogene c-ErbB-2) (Tyrosine kinase-type cell surface receptor HER2) (p185erbB2) (CD antigen CD340)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; basal plasma membrane [GO:0009925]; basolateral plasma membrane [GO:0016323]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endosome membrane [GO:0010008]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; myelin sheath [GO:0043209]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; ATP binding [GO:0005524]; ErbB-3 class receptor binding [GO:0043125]; identical protein binding [GO:0042802]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein C-terminus binding [GO:0008022]; protein dimerization activity [GO:0046983]; protein heterodimerization activity [GO:0046982]; protein phosphatase binding [GO:0019903]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; RNA polymerase I core binding [GO:0001042]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; cell differentiation [GO:0030154]; cell proliferation [GO:0008283]; cell surface receptor signaling pathway [GO:0007166]; cellular response to epidermal growth factor stimulus [GO:0071364]; cellular response to growth factor stimulus [GO:0071363]; enzyme linked receptor protein signaling pathway [GO:0007167]; ERBB2 signaling pathway [GO:0038128]; heart development [GO:0007507]; MAPK cascade [GO:0000165]; motor neuron axon guidance [GO:0008045]; myelination [GO:0042552]; negative regulation of apoptotic process [GO:0043066]; negative regulation of ERBB signaling pathway [GO:1901185]; negative regulation of immature T cell proliferation in thymus [GO:0033088]; negative regulation of signal transduction [GO:0009968]; neuromuscular junction development [GO:0007528]; oligodendrocyte differentiation [GO:0048709]; peripheral nervous system development [GO:0007422]; phosphatidylinositol 3-kinase signaling [GO:0014065]; positive regulation of cell adhesion [GO:0045785]; positive regulation of cell growth [GO:0030307]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of GTPase activity [GO:0043547]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of protein targeting to membrane [GO:0090314]; positive regulation of transcription by RNA polymerase I [GO:0045943]; positive regulation of transcription by RNA polymerase III [GO:0045945]; positive regulation of translation [GO:0045727]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of angiogenesis [GO:0045765]; regulation of cell motility [GO:2000145]; regulation of ERK1 and ERK2 cascade [GO:0070372]; regulation of microtubule-based process [GO:0032886]; regulation of transcription by RNA polymerase II [GO:0006357]; signal transduction [GO:0007165]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]; wound healing [GO:0042060]

snps:
rs4252633 rs1801201 rs1136201 rs121913469 rs56366519 rs28933369 rs28933370 rs28933368 rs1058808 rs55943169 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=6;  Name=1; Synonyms=ERBB2, HER2; IsoId=P04626-1; Sequence=Displayed; Name=2; Synonyms=CTF-611; IsoId=P04626-2; Sequence=VSP_039249; Note=Produced by alternative initiation at Met-611 of isoform 1.; Name=3; Synonyms=CTF-687; IsoId=P04626-3; Sequence=VSP_039250; Note=Produced by alternative initiation at Met-687 of isoform 1.; Name=4; IsoId=P04626-4; Sequence=VSP_039248; Note=Produced by alternative splicing of isoform 1.; Name=5; IsoId=P04626-5; Sequence=VSP_054787; Note=No experimental confirmation available. Gene prediction based on partial mRNA and EST data.; Name=6; Synonyms=B; IsoId=P04626-6; Sequence=VSP_055902, VSP_055903, VSP_055904; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass type I membrane protein. Cytoplasm, perinuclear region. Nucleus. Note=Translocation to the nucleus requires endocytosis, probably endosomal sorting and is mediated by importin beta-1/KPNB1.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Nucleus.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm. Nucleus.


uniprotID: P24855
geneSymbol: DNASE1
pdb: 4AWN;
name: Deoxyribonuclease-1 (EC 3.1.21.1) (Deoxyribonuclease I) (DNase I) (Dornase alfa)
length: 282
go: ENSG00000213918;
sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; nuclear envelope [GO:0005635]; nucleus [GO:0005634]; actin binding [GO:0003779]; deoxyribonuclease activity [GO:0004536]; deoxyribonuclease I activity [GO:0004530]; DNA binding [GO:0003677]; apoptotic process [GO:0006915]; DNA catabolic process [GO:0006308]; DNA catabolic process, endonucleolytic [GO:0000737]; neutrophil activation involved in immune response [GO:0002283]; regulation of acute inflammatory response [GO:0002673]; regulation of neutrophil mediated cytotoxicity [GO:0070948]

snps:
rs8176927 rs77254040 rs8176928 rs530214101 rs8176919 rs1799891 rs148373909 rs8176940 rs1053874 rs8176939 rs8176924 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P24855-1; Sequence=Displayed; Name=2; IsoId=P24855-2; Sequence=VSP_056974, VSP_056975, VSP_056976; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:2277032}. Nucleus envelope. Note=Secretory protein, stored in zymogen granules and found in the nuclear envelope.


uniprotID: Q4LDG9
geneSymbol: DNAL1
name: Dynein light chain 1, axonemal (LC1)
length: 190
go: ENSG00000119661;
snps: rs387907021
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000305}.
sequence:
MAKATTIKEALARWEEKTGQRPSEAKEIKLYAQIPPIEKMDASLSMLANCEKLSLSTNCIEKIANLNGLKNLRILSLGRNNIKNLNGLEAVGDTLEELWISYNFIEKLKGIHIMKKLKILYMSNNLVKDWAEFVKLAELPCLEDLVFVGNPLEEKHSAENNWIEEATKRVPKLKKLDGTPVIKGDEEEDN

opentargets:
cytoplasm [GO:0005737]; microtubule [GO:0005874]; outer dynein arm [GO:0036157]; alpha-tubulin binding [GO:0043014]; dynein heavy chain binding [GO:0045504]; motor activity [GO:0003774]; outer dynein arm assembly [GO:0036158]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q4LDG9-1; Sequence=Displayed; Name=2; IsoId=Q4LDG9-2; Sequence=VSP_023982; Note=No experimental confirmation available.; Name=3; IsoId=Q4LDG9-3; Sequence=VSP_043590; Note=No experimental confirmation available.; 


uniprotID: O96015
geneSymbol: DNAL4
reactome: R-HSA-177504;
name: Dynein light chain 4, axonemal
length: 105
go: ENSG00000100246;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250}.
sequence:
MGETEGKKDEADYKRLQTFPLVRHSDMPEEMRVETMELCVTACEKFSNNNESAAKMIKETMDKKFGSSWHVVIGEGFGFEITHEVKNLLYLYFGGTLAVCVWKCS

opentargets:
cilium [GO:0005929]; cytoplasm [GO:0005737]; dynein complex [GO:0030286]; microtubule [GO:0005874]; plasma membrane [GO:0005886]; dynein intermediate chain binding [GO:0045505]; dynein light intermediate chain binding [GO:0051959]; microtubule motor activity [GO:0003777]; microtubule-based movement [GO:0007018]; positive regulation of ATP-dependent microtubule motor activity, plus-end-directed [GO:2000582]


uniprotID: Q9UF47
geneSymbol: DNAJC5B
name: DnaJ homolog subfamily C member 5B (Cysteine string protein beta) (CSP-beta)
length: 199
go: ENSG00000147570;
opentargets: membrane [GO:0016020]
sequence:
MACNIPNQRQRTLSTTGEALYEILGLHKGASNEEIKKTYRKLALKHHPDKNPDDPAATEKFKEINNAHAILTDISKRSIYDKYGSLGLYVAEQFGDENVNTYFMLSSWWAKALFVIVGLLTGCYFCCCLCCCCNCCCGHCRPESSVPEEDFYVSPEDLEEQIKSDMEKDVDFPVFLQPTNANEKTQLIKEGSRSYCTDS

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:17034881}; Lipid-anchor {ECO:0000269|PubMed:17034881}. Note=May be associated with the trans-Golgi network. {ECO:0000269|PubMed:17034881}.


uniprotID: Q7Z6W7
geneSymbol: DNAJB7
name: DnaJ homolog subfamily B member 7
length: 309
go: ENSG00000172404;
opentargets: chaperone binding [GO:0051087]
snps: rs2269619
sequence:


uniprotID: Q8NFT8
geneSymbol: DNER
reactome: R-HSA-2122948;
name: Delta and Notch-like epidermal growth factor-related receptor
length: 737
go: ENSG00000187957;
snps: rs17853365
sequence:

opentargets:
dendrite [GO:0030425]; early endosome [GO:0005769]; integral component of membrane [GO:0016021]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; clathrin binding [GO:0030276]; Notch binding [GO:0005112]; transmembrane signaling receptor activity [GO:0004888]; central nervous system development [GO:0007417]; endocytosis [GO:0006897]; glial cell differentiation [GO:0010001]; neuron migration [GO:0001764]; Notch receptor processing [GO:0007220]; Notch signaling pathway [GO:0007219]; skeletal muscle fiber development [GO:0048741]; synapse assembly [GO:0007416]

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Note=Present on the membrane of dendrites and cell bodies but excluded from axonal membrane. Also found in early endosomes in the somatodendritic region (By similarity). {ECO:0000250}.


uniprotID: Q9UBS3
geneSymbol: DNAJB9
reactome: R-HSA-381038;
pdb: 2CTR;
length: 223
go: ENSG00000128590;
snps: rs17155937
location: SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000250|UniProtKB:Q9QYI6}.
name:
DnaJ homolog subfamily B member 9 (Endoplasmic reticulum DNA J domain-containing protein 4) (ER-resident protein ERdj4) (ERdj4) (Microvascular endothelial differentiation gene 1 protein) (Mdg-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; nucleolus [GO:0005730]; chaperone binding [GO:0051087]; Hsp70 protein binding [GO:0030544]; misfolded protein binding [GO:0051787]; B cell differentiation [GO:0030183]; immunoglobulin production [GO:0002377]; IRE1-mediated unfolded protein response [GO:0036498]; negative regulation of IRE1-mediated unfolded protein response [GO:1903895]; response to endoplasmic reticulum stress [GO:0034976]; ubiquitin-dependent ERAD pathway [GO:0030433]


uniprotID: O14944
geneSymbol: EREG
pdb: 1K36;1K37;5E8D;5WB7;
name: Proepiregulin [Cleaved into: Epiregulin (EPR)]
length: 169
go: ENSG00000124882;
snps: rs35275884
reactome:
R-HSA-1227986;R-HSA-1236394;R-HSA-1250196;R-HSA-1250342;R-HSA-1250347;R-HSA-1251985;R-HSA-1257604;R-HSA-1963640;R-HSA-1963642;R-HSA-2219530;R-HSA-5673001;R-HSA-6785631;R-HSA-6811558;R-HSA-8847993;R-HSA-8863795;

sequence:
MTAGRRMEMLCAGRVPALLLCLGFHLLQAVLSTTVIPSCIPGESSDNCTALVQTEDNPRVAQVSITKCSSDMNGYCLHGQCIYLVDMSQNYCRCEVGYTGVRCEHFFLTVHQPLSKEYVALTVILIILFLITVVGSTYYFCRWYRNRKSKEPKKEYERVTSGDPELPQV

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; epidermal growth factor receptor binding [GO:0005154]; growth factor activity [GO:0008083]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; anatomical structure morphogenesis [GO:0009653]; angiogenesis [GO:0001525]; animal organ morphogenesis [GO:0009887]; cell-cell signaling [GO:0007267]; cytokine-mediated signaling pathway [GO:0019221]; epidermal growth factor receptor signaling pathway [GO:0007173]; ERBB2 signaling pathway [GO:0038128]; female meiotic nuclear division [GO:0007143]; keratinocyte differentiation [GO:0030216]; keratinocyte proliferation [GO:0043616]; luteinizing hormone signaling pathway [GO:0042700]; MAPK cascade [GO:0000165]; mRNA transcription [GO:0009299]; negative regulation of cell proliferation [GO:0008285]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of smooth muscle cell differentiation [GO:0051151]; negative regulation of transcription, DNA-templated [GO:0045892]; oocyte maturation [GO:0001556]; ovarian cumulus expansion [GO:0001550]; ovulation [GO:0030728]; positive regulation of cell division [GO:0051781]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cytokine biosynthetic process [GO:0042108]; positive regulation of cytokine production [GO:0001819]; positive regulation of DNA replication [GO:0045740]; positive regulation of epidermal growth factor-activated receptor activity [GO:0045741]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of innate immune response [GO:0045089]; positive regulation of interleukin-6 biosynthetic process [GO:0045410]; positive regulation of mitotic nuclear division [GO:0045840]; positive regulation of phosphorylation [GO:0042327]; positive regulation of protein kinase activity [GO:0045860]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of smooth muscle cell proliferation [GO:0048661]; primary follicle stage [GO:0048160]; regulation of cell motility [GO:2000145]; response to peptide hormone [GO:0043434]; wound healing [GO:0042060]

location:
SUBCELLULAR LOCATION: Epiregulin: Secreted, extracellular space {ECO:0000269|PubMed:9337852}.; SUBCELLULAR LOCATION: Proepiregulin: Cell membrane {ECO:0000269|PubMed:9337852}; Single-pass type I membrane protein {ECO:0000269|PubMed:9337852}.


uniprotID: Q8WW22
geneSymbol: DNAJA4
reactome: R-HSA-3371497;
name: DnaJ homolog subfamily A member 4
length: 397
go: ENSG00000140403;
snps: rs17852881
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}.
sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; ATP binding [GO:0005524]; chaperone binding [GO:0051087]; heat shock protein binding [GO:0031072]; metal ion binding [GO:0046872]; unfolded protein binding [GO:0051082]; negative regulation of inclusion body assembly [GO:0090084]; protein refolding [GO:0042026]; response to heat [GO:0009408]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8WW22-1; Sequence=Displayed; Name=2; IsoId=Q8WW22-2; Sequence=VSP_038965; Name=3; IsoId=Q8WW22-3; Sequence=VSP_045696; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: Q99615
geneSymbol: DNAJC7
reactome: R-HSA-3371453;
name: DnaJ homolog subfamily C member 7 (Tetratricopeptide repeat protein 2) (TPR repeat protein 2)
length: 494
go: ENSG00000168259;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; ATPase activator activity [GO:0001671]; heat shock protein binding [GO:0031072]; chaperone cofactor-dependent protein refolding [GO:0051085]; protein folding [GO:0006457]; regulation of cellular response to heat [GO:1900034]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q99615-1; Sequence=Displayed; Name=2; IsoId=Q99615-2; Sequence=VSP_044279; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11573955, ECO:0000269|PubMed:12853476}. Nucleus {ECO:0000269|PubMed:11573955}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q9QYI3}. Note=Colocalizes with NR1I3 to microtubules. {ECO:0000250|UniProtKB:Q9QYI3}.


uniprotID: P49917
geneSymbol: LIG4
reactome: R-HSA-164843;R-HSA-5693571;
pdb: 1IK9;2E2W;3II6;3VNN;3W1B;3W1G;3W5O;4HTO;4HTP;6BKF;6BKG;
name: DNA ligase 4 (EC 6.5.1.1) (DNA ligase IV) (Polydeoxyribonucleotide synthase [ATP] 4)
length: 911
go: ENSG00000174405;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
condensed chromosome [GO:0000793]; cytoplasmic ribonucleoprotein granule [GO:0036464]; DNA ligase IV complex [GO:0032807]; DNA-dependent protein kinase-DNA ligase 4 complex [GO:0005958]; nonhomologous end joining complex [GO:0070419]; nuclear chromosome, telomeric region [GO:0000784]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; DNA ligase (ATP) activity [GO:0003910]; DNA ligase activity [GO:0003909]; ligase activity [GO:0016874]; metal ion binding [GO:0046872]; protein C-terminus binding [GO:0008022]; cell cycle [GO:0007049]; cell division [GO:0051301]; cell proliferation [GO:0008283]; cellular response to lithium ion [GO:0071285]; central nervous system development [GO:0007417]; chromosome organization [GO:0051276]; DNA biosynthetic process [GO:0071897]; DNA ligation [GO:0006266]; DNA ligation involved in DNA recombination [GO:0051102]; DNA ligation involved in DNA repair [GO:0051103]; DNA replication [GO:0006260]; double-strand break repair [GO:0006302]; double-strand break repair via classical nonhomologous end joining [GO:0097680]; double-strand break repair via nonhomologous end joining [GO:0006303]; establishment of integrated proviral latency [GO:0075713]; immunoglobulin V(D)J recombination [GO:0033152]; in utero embryonic development [GO:0001701]; isotype switching [GO:0045190]; negative regulation of neuron apoptotic process [GO:0043524]; neuron apoptotic process [GO:0051402]; nucleotide-excision repair, DNA gap filling [GO:0006297]; positive regulation of chromosome organization [GO:2001252]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of neurogenesis [GO:0050769]; pro-B cell differentiation [GO:0002328]; response to gamma radiation [GO:0010332]; response to X-ray [GO:0010165]; single strand break repair [GO:0000012]; somatic stem cell population maintenance [GO:0035019]; T cell differentiation in thymus [GO:0033077]; T cell receptor V(D)J recombination [GO:0033153]; V(D)J recombination [GO:0033151]

snps:
rs1805389 rs1805388 rs3093763 rs3093765 rs104894421 rs2232640 rs104894420 rs3742212 rs2232641 rs1060499662 rs2232642 


uniprotID: P15170
geneSymbol: GSPT1
reactome: R-HSA-72764;R-HSA-9010553;R-HSA-975956;R-HSA-975957;
pdb: 3E1Y;3J5Y;3KUI;4D61;5HXB;5LZT;
length: 499
go: ENSG00000103342;
drug: DB04315;
name:
Eukaryotic peptide chain release factor GTP-binding subunit ERF3A (Eukaryotic peptide chain release factor subunit 3a) (eRF3a) (G1 to S phase transition protein 1 homolog)

sequence:

opentargets:
cytosol [GO:0005829]; intracellular [GO:0005622]; translation release factor complex [GO:0018444]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; RNA binding [GO:0003723]; translation release factor activity [GO:0003747]; cytoplasmic translational termination [GO:0002184]; G1/S transition of mitotic cell cycle [GO:0000082]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; protein methylation [GO:0006479]; translation [GO:0006412]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P15170-1; Sequence=Displayed; Name=2; IsoId=P15170-2; Sequence=VSP_042198, VSP_042199; Name=3; IsoId=P15170-3; Sequence=VSP_042198; Note=Gene prediction based on EST data.; 


uniprotID: Q8IYD1
geneSymbol: GSPT2
reactome: R-HSA-72764;R-HSA-9010553;R-HSA-975956;R-HSA-975957;
pdb: 3KUJ;
length: 628
go: ENSG00000189369;
snps: rs17855593
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
name:
Eukaryotic peptide chain release factor GTP-binding subunit ERF3B (Eukaryotic peptide chain release factor subunit 3b) (eRF3b) (G1 to S phase transition protein 2 homolog)

sequence:

opentargets:
cytosol [GO:0005829]; translation release factor complex [GO:0018444]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; RNA binding [GO:0003723]; translation release factor activity [GO:0003747]; cell cycle [GO:0007049]; cytoplasmic translational termination [GO:0002184]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; translation [GO:0006412]


uniprotID: Q4G0M1
geneSymbol: ERFE
name: Erythroferrone (Complement C1q tumor necrosis factor-related protein 15) (Myonectin)
length: 354
go: ENSG00000178752;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:Q6PGN1}.
sequence:

opentargets:
cell [GO:0005623]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; hormone activity [GO:0005179]; protein homodimerization activity [GO:0042803]; cellular iron ion homeostasis [GO:0006879]; positive regulation of fatty acid transport [GO:2000193]; regulation of fatty acid metabolic process [GO:0019217]


uniprotID: Q14534
geneSymbol: SQLE
reactome: R-HSA-191273;R-HSA-2426168;
name: Squalene monooxygenase (EC 1.14.14.17) (Squalene epoxidase) (SE)
length: 574
go: ENSG00000104549;
drug: DB01091;DB08846;DB00735;DB04927;DB00857;
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; organelle membrane [GO:0031090]; flavin adenine dinucleotide binding [GO:0050660]; squalene monooxygenase activity [GO:0004506]; cellular aromatic compound metabolic process [GO:0006725]; cholesterol biosynthetic process [GO:0006695]; cholesterol metabolic process [GO:0008203]; regulation of cholesterol biosynthetic process [GO:0045540]; response to organic substance [GO:0010033]; sterol biosynthetic process [GO:0016126]

location:
SUBCELLULAR LOCATION: Microsome membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein.


uniprotID: O43414
geneSymbol: ERI3
pdb: 2XRI;
name: ERI1 exoribonuclease 3 (EC 3.1.-.-) (Prion interactor 1) (Prion protein-interacting protein)
length: 337
go: ENSG00000117419;
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleolus [GO:0005730]; 3'-5'-exoribonuclease activity [GO:0000175]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; DNA catabolic process, exonucleolytic [GO:0000738]; exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000467]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O43414-1; Sequence=Displayed; Name=2; IsoId=O43414-2; Sequence=VSP_031103; Name=3; IsoId=O43414-3; Sequence=VSP_031104; 


uniprotID: Q86X53
geneSymbol: ERICH1
name: Glutamate-rich protein 1
length: 443
go: ENSG00000104714;
snps: rs774405503 rs1703879
sequence:


uniprotID: Q6P6B1
geneSymbol: ERICH5
name: Glutamate-rich protein 5
length: 374
go: ENSG00000177459;
snps: rs7833473 rs35368005 rs11994440
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6P6B1-1; Sequence=Displayed; Name=2; IsoId=Q6P6B1-2; Sequence=VSP_046650; Note=No experimental confirmation available.; 


uniprotID: Q7L0X2
geneSymbol: ERICH6
name: Glutamate-rich protein 6 (Protein FAM194A)
length: 663
go: ENSG00000163645;
snps: rs16862795 rs11919896 rs34137455
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q7L0X2-1; Sequence=Displayed; Name=2; IsoId=Q7L0X2-2; Sequence=VSP_026313; Name=3; IsoId=Q7L0X2-3; Sequence=VSP_026312; 


uniprotID: P61579
geneSymbol: ERVK-25
length: 105
name:
Endogenous retrovirus group K member 25 Rec protein (Endogenous retrovirus group K member 25) (HERV-K_11q22.1 provirus Rec protein)

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus, nucleolus {ECO:0000250}. Note=Shuttles between the nucleus and cytoplasm. When in the nucleus, resides in the nucleolus (By similarity). {ECO:0000250}.


uniprotID: Q96DZ1
geneSymbol: ERLEC1
reactome: R-HSA-382556;R-HSA-5358346;R-HSA-5362768;R-HSA-5678895;
name: Endoplasmic reticulum lectin 1 (ER lectin) (Erlectin) (XTP3-transactivated gene B protein)
length: 483
go: ENSG00000068912;
snps: rs2287345
sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum quality control compartment [GO:0044322]; unfolded protein binding [GO:0051082]; ERAD pathway [GO:0036503]; negative regulation of retrograde protein transport, ER to cytosol [GO:1904153]; retrograde protein transport, ER to cytosol [GO:0030970]; transmembrane transport [GO:0055085]; ubiquitin-dependent ERAD pathway [GO:0030433]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=hXTP3B-long; IsoId=Q96DZ1-1; Sequence=Displayed; Name=2; Synonyms=hXTP3B-short; IsoId=Q96DZ1-2; Sequence=VSP_015790; Name=3; IsoId=Q96DZ1-3; Sequence=VSP_047155; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000269|PubMed:16531414, ECO:0000269|PubMed:18502753}.


uniprotID: O75477
geneSymbol: ERLIN1
reactome: R-HSA-382556;R-HSA-5678895;
length: 346
name:
Erlin-1 (Endoplasmic reticulum lipid raft-associated protein 1) (Protein KE04) (Stomatin-prohibitin-flotillin-HflC/K domain-containing protein 1) (SPFH domain-containing protein 1)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; protein-containing complex [GO:0032991]; cholesterol binding [GO:0015485]; ubiquitin protein ligase binding [GO:0031625]; cholesterol metabolic process [GO:0008203]; negative regulation of cholesterol biosynthetic process [GO:0045541]; negative regulation of fatty acid biosynthetic process [GO:0045717]; SREBP signaling pathway [GO:0032933]; transmembrane transport [GO:0055085]; ubiquitin-dependent ERAD pathway [GO:0030433]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:11118313, ECO:0000269|PubMed:16835267, ECO:0000269|PubMed:19240031}; Single-pass type II membrane protein {ECO:0000269|PubMed:11118313, ECO:0000269|PubMed:16835267, ECO:0000269|PubMed:19240031}. Note=Associated with lipid raft-like domains of the endoplasmic reticulum membrane.


uniprotID: O94905
geneSymbol: ERLIN2
reactome: R-HSA-382556;R-HSA-5655302;R-HSA-5678895;R-HSA-8853336;
length: 339
go: ENSG00000147475;
snps: rs2032066
name:
Erlin-2 (Endoplasmic reticulum lipid raft-associated protein 2) (Stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2) (SPFH domain-containing protein 2)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; cholesterol binding [GO:0015485]; protein tyrosine kinase activity [GO:0004713]; ubiquitin protein ligase binding [GO:0031625]; cholesterol metabolic process [GO:0008203]; negative regulation of cholesterol biosynthetic process [GO:0045541]; negative regulation of fatty acid biosynthetic process [GO:0045717]; SREBP signaling pathway [GO:0032933]; transmembrane transport [GO:0055085]; ubiquitin-dependent ERAD pathway [GO:0030433]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O94905-1; Sequence=Displayed; Name=2; IsoId=O94905-2; Sequence=VSP_008713, VSP_008714; Name=3; IsoId=O94905-3; Sequence=VSP_013940, VSP_013941; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:16835267, ECO:0000269|PubMed:17502376, ECO:0000269|PubMed:19240031}; Single-pass type II membrane protein {ECO:0000269|PubMed:16835267, ECO:0000269|PubMed:17502376, ECO:0000269|PubMed:19240031}. Note=Associated with lipid raft-like domains of the endoplasmic reticulum membrane.


uniprotID: Q9UJW3
geneSymbol: DNMT3L
reactome: R-HSA-5334118;
pdb: 2PV0;2PVC;2QRV;4U7P;4U7T;5YX2;6BRR;6F57;
name: DNA (cytosine-5)-methyltransferase 3-like
length: 386
go: ENSG00000142182;
snps: rs7354779
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; enzyme activator activity [GO:0008047]; enzyme binding [GO:0019899]; metal ion binding [GO:0046872]; DNA methylation [GO:0006306]; DNA methylation involved in gamete generation [GO:0043046]; DNA methylation on cytosine [GO:0032776]; male meiosis I [GO:0007141]; negative regulation of DNA methylation [GO:1905642]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of DNA methylation [GO:1905643]; regulation of gene expression by genetic imprinting [GO:0006349]; spermatogenesis [GO:0007283]; stem cell differentiation [GO:0048863]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Other splice isoforms seem to exist.; Name=1; IsoId=Q9UJW3-1; Sequence=Displayed; Name=2; IsoId=Q9UJW3-2; Sequence=VSP_041295; 


uniprotID: Q13609
geneSymbol: DNASE1L3
length: 305
go: ENSG00000163687;
snps: rs763778721 rs74350392 rs12491947 rs35677470 rs76440799
name:
Deoxyribonuclease gamma (DNase gamma) (EC 3.1.21.-) (DNase I homolog protein DHP2) (Deoxyribonuclease I-like 3) (DNase I-like 3) (Liver and spleen DNase) (LS-DNase) (LSD)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; extracellular region [GO:0005576]; nucleus [GO:0005634]; calcium ion binding [GO:0005509]; deoxyribonuclease activity [GO:0004536]; deoxyribonuclease I activity [GO:0004530]; DNA binding [GO:0003677]; apoptotic DNA fragmentation [GO:0006309]; DNA catabolic process [GO:0006308]; DNA catabolic process, endonucleolytic [GO:0000737]; DNA metabolic process [GO:0006259]; neutrophil activation involved in immune response [GO:0002283]; programmed cell death involved in cell development [GO:0010623]; regulation of acute inflammatory response [GO:0002673]; regulation of neutrophil mediated cytotoxicity [GO:0070948]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13609-1; Sequence=Displayed; Name=2; IsoId=Q13609-2; Sequence=VSP_047251; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11141064, ECO:0000269|PubMed:23229555}. Endoplasmic reticulum {ECO:0000269|PubMed:23229555}. Secreted {ECO:0000269|PubMed:9714828}. Note=Translocates from the endoplasmic reticulum to the nucleus during apoptosis (PubMed:23229555). Contradictory reports exist about the subcellular localization under normal physiological conditions. Under conditions of cell death, may diffuse and/or be actively transported to the nucleus. {ECO:0000269|PubMed:23229555, ECO:0000305}.


uniprotID: Q14183
geneSymbol: DOC2A
pdb: 4MJJ;
name: Double C2-like domain-containing protein alpha (Doc2) (Doc2-alpha)
length: 400
go: ENSG00000149927;
snps: rs1140239
sequence:

opentargets:
cell junction [GO:0030054]; extrinsic component of synaptic vesicle membrane [GO:0098850]; lysosome [GO:0005764]; neuron projection [GO:0043005]; nucleolus [GO:0005730]; nucleus [GO:0005634]; calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; chemical synaptic transmission [GO:0007268]; nervous system development [GO:0007399]; regulation of calcium ion-dependent exocytosis [GO:0017158]; synaptic vesicle exocytosis [GO:0016079]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14183-1; Sequence=Displayed; Name=2; IsoId=Q14183-2; Sequence=VSP_056977, VSP_056978, VSP_056979; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Lysosome {ECO:0000250}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}. Cell junction, synapse, synaptosome. Note=Colocalizes to synaptic vesicles.


uniprotID: Q14185
geneSymbol: DOCK1
reactome: R-HSA-2029482;R-HSA-418885;R-HSA-4420097;R-HSA-8849471;R-HSA-983231;
pdb: 3L4C;
name: Dedicator of cytokinesis protein 1 (180 kDa protein downstream of CRK) (DOCK180)
length: 1865
go: ENSG00000150760;
snps: rs869801
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; guanyl-nucleotide exchange factor complex [GO:0032045]; membrane [GO:0016020]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; GTPase activator activity [GO:0005096]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; SH3 domain binding [GO:0017124]; apoptotic process [GO:0006915]; blood coagulation [GO:0007596]; cell migration [GO:0016477]; cytoskeleton organization [GO:0007010]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; integrin-mediated signaling pathway [GO:0007229]; phagocytosis, engulfment [GO:0006911]; positive regulation of epithelial cell migration [GO:0010634]; positive regulation of substrate adhesion-dependent cell spreading [GO:1900026]; signal transduction [GO:0007165]; small GTPase mediated signal transduction [GO:0007264]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}. Membrane {ECO:0000305}. Note=Recruited to membranes via its interaction with phosphatidylinositol 3,4,5-trisphosphate. {ECO:0000305}.


uniprotID: Q8IZD9
geneSymbol: DOCK3
reactome: R-HSA-9032759;R-HSA-983231;
name: Dedicator of cytokinesis protein 3 (Modifier of cell adhesion) (Presenilin-binding protein) (PBP)
length: 2030
go: ENSG00000088538;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytosol [GO:0005829]; Rac guanyl-nucleotide exchange factor activity [GO:0030676]; SH3 domain binding [GO:0017124]; positive regulation of non-membrane spanning protein tyrosine kinase activity [GO:1903997]; small GTPase mediated signal transduction [GO:0007264]


uniprotID: Q6PKX4
geneSymbol: DOK6
reactome: R-HSA-8853659;
name: Docking protein 6 (Downstream of tyrosine kinase 6)
length: 331
go: ENSG00000206052;
opentargets: cytosol [GO:0005829]; axon guidance [GO:0007411]
sequence:


uniprotID: Q9BU89
geneSymbol: DOHH
reactome: R-HSA-204626;
pdb: 4D4Z;4D50;
length: 302
go: ENSG00000129932;
name:
Deoxyhypusine hydroxylase (hDOHH) (EC 1.14.99.29) (Deoxyhypusine dioxygenase) (Deoxyhypusine monooxygenase) (HEAT-like repeat-containing protein 1)

sequence:

opentargets:
cytosol [GO:0005829]; cofactor binding [GO:0048037]; deoxyhypusine monooxygenase activity [GO:0019135]; iron ion binding [GO:0005506]; peptidyl-lysine modification to peptidyl-hypusine [GO:0008612]


uniprotID: P30040
geneSymbol: ERP29
pdb: 2QC7;5V8Z;5V90;
length: 261
go: ENSG00000089248;
name:
Endoplasmic reticulum resident protein 29 (ERp29) (Endoplasmic reticulum resident protein 28) (ERp28) (Endoplasmic reticulum resident protein 31) (ERp31)

sequence:

opentargets:
cell surface [GO:0009986]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; melanosome [GO:0042470]; membrane [GO:0016020]; smooth endoplasmic reticulum [GO:0005790]; transport vesicle [GO:0030133]; chaperone binding [GO:0051087]; protein homodimerization activity [GO:0042803]; activation of MAPK activity [GO:0000187]; intracellular protein transport [GO:0006886]; negative regulation of gene expression [GO:0010629]; negative regulation of protein secretion [GO:0050709]; positive regulation of gene expression [GO:0010628]; positive regulation of protein phosphorylation [GO:0001934]; protein folding [GO:0006457]; protein secretion [GO:0009306]; protein unfolding [GO:0043335]; regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway [GO:1902235]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P30040-1; Sequence=Displayed; Name=2; IsoId=P30040-2; Sequence=VSP_045680, VSP_045681; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.


uniprotID: Q9NYP3
geneSymbol: DONSON
name: Protein downstream neighbor of Son (B17)
length: 566
go: ENSG00000159147;
snps: rs768071555 rs779803447 rs1135401959 rs146664036 rs374688527
sequence:

opentargets:
nucleus [GO:0005634]; replication fork [GO:0005657]; replisome [GO:0030894]; DNA damage checkpoint [GO:0000077]; DNA replication [GO:0006260]; mitotic G2 DNA damage checkpoint [GO:0007095]; multicellular organism development [GO:0007275]; nuclear DNA replication [GO:0033260]; replication fork protection [GO:0048478]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q9NYP3-1; Sequence=Displayed; Name=2; IsoId=Q9NYP3-2; Sequence=VSP_004192, VSP_004193; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=Q9NYP3-3; Sequence=VSP_004194, VSP_004195; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:28191891}. Note=Localizes at DNA replication sites. {ECO:0000269|PubMed:28191891}.


uniprotID: Q9BS26
geneSymbol: ERP44
reactome: R-HSA-6798695;
pdb: 2R2J;5GU6;5GU7;5HQP;
length: 406
go: ENSG00000023318;
name:
Endoplasmic reticulum resident protein 44 (ER protein 44) (ERp44) (Thioredoxin domain-containing protein 4)

sequence:

opentargets:
cell surface [GO:0009986]; endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; specific granule lumen [GO:0035580]; protein disulfide isomerase activity [GO:0003756]; cell redox homeostasis [GO:0045454]; glycoprotein metabolic process [GO:0009100]; neutrophil degranulation [GO:0043312]; protein folding [GO:0006457]; response to endoplasmic reticulum stress [GO:0034976]; response to unfolded protein [GO:0006986]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000269|PubMed:11847130, ECO:0000269|PubMed:15652484}.


uniprotID: Q99704
geneSymbol: DOK1
reactome: R-HSA-8849469;R-HSA-8853659;
pdb: 2V76;
name: Docking protein 1 (Downstream of tyrosine kinase 1) (p62(dok)) (pp62)
length: 481
go: ENSG00000115325;
sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; axon guidance [GO:0007411]; cell surface receptor signaling pathway [GO:0007166]; macrophage colony-stimulating factor signaling pathway [GO:0038145]; positive regulation of epidermal growth factor receptor signaling pathway [GO:0045742]; Ras protein signal transduction [GO:0007265]; signal transduction [GO:0007165]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=3;  Name=1; Synonyms=p62Dok1; IsoId=Q99704-1; Sequence=Displayed; Name=2; Synonyms=p22Dokdel; IsoId=Q99704-2; Sequence=VSP_003852, VSP_003853; Name=3; Synonyms=p44Dok; IsoId=Q99704-3; Sequence=VSP_038224; Note=Produced by alternative initiation at Met-140 of isoform 1. {ECO:0000269|PubMed:19481542}; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm. Nucleus.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm, perinuclear region.


uniprotID: O60496
geneSymbol: DOK2
reactome: R-HSA-210993;R-HSA-8853659;
pdb: 2D9W;2DLW;
name: Docking protein 2 (Downstream of tyrosine kinase 2) (p56(dok-2))
length: 412
go: ENSG00000147443;
snps: rs1140295 rs34215892 rs2242241
sequence:

opentargets:
cytosol [GO:0005829]; transmembrane receptor protein tyrosine kinase adaptor activity [GO:0005068]; axon guidance [GO:0007411]; cell surface receptor signaling pathway [GO:0007166]; leukocyte migration [GO:0050900]; Ras protein signal transduction [GO:0007265]; signal transduction [GO:0007165]


uniprotID: P30046
geneSymbol: DDT
pdb: 1DPT;3KAN;4Q3F;6C5F;
name: D-dopachrome decarboxylase (EC 4.1.1.84) (D-dopachrome tautomerase) (Phenylpyruvate tautomerase II)
length: 118
go: ENSG00000099977;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:
MPFLELDTNLPANRVPAGLEKRLCAAAASILGKPADRVNVTVRPGLAMALSGSTEPCAQLSISSIGVVGTAEDNRSHSAHFFEFLTKELALGQDRILIRFFPLESWQIGKIGTVMTFL

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; cytokine receptor binding [GO:0005126]; D-dopachrome decarboxylase activity [GO:0033981]; dopachrome isomerase activity [GO:0004167]; phenylpyruvate tautomerase activity [GO:0050178]; melanin biosynthetic process [GO:0042438]; negative regulation of macrophage chemotaxis [GO:0010760]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of inflammatory response [GO:0050729]; positive regulation of tumor necrosis factor production [GO:0032760]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P30046-1; Sequence=Displayed; Name=2; IsoId=P30046-2; Sequence=VSP_056953; Note=No experimental confirmation available.; 


uniprotID: Q8TEK3
geneSymbol: DOT1L
reactome: R-HSA-3214841;
length: 1537
go: ENSG00000104885;
snps: rs880525 rs3815308 rs2302061
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15851025}.
pdb:
1NW3;2MV7;3QOW;3QOX;3SR4;3SX0;3UWP;4EK9;4EKG;4EKI;4EQZ;4ER0;4ER3;4ER5;4ER6;4ER7;4HRA;4WVL;5DRT;5DRY;5DSX;5DT2;5DTM;5DTQ;5DTR;5JUW;5MVS;5MW3;5MW4;

name:
Histone-lysine N-methyltransferase, H3 lysine-79 specific (EC 2.1.1.43) (DOT1-like protein) (Histone H3-K79 methyltransferase) (H3-K79-HMTase) (Lysine N-methyltransferase 4)

sequence:

opentargets:
chromosome, telomeric region [GO:0000781]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; DNA binding [GO:0003677]; histone methyltransferase activity [GO:0042054]; histone methyltransferase activity (H3-K79 specific) [GO:0031151]; histone-lysine N-methyltransferase activity [GO:0018024]; transcription factor binding [GO:0008134]; chromatin silencing at telomere [GO:0006348]; DNA damage checkpoint [GO:0000077]; histone H3-K79 methylation [GO:0034729]; positive regulation of cell proliferation [GO:0008284]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of JAK-STAT cascade [GO:0046425]; regulation of transcription regulatory region DNA binding [GO:2000677]; telomere organization [GO:0032200]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TEK3-2; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q8TEK3-1; Sequence=VSP_059795; 


uniprotID: Q9BZG8
geneSymbol: DPH1
reactome: R-HSA-5358493;
length: 443
go: ENSG00000108963;
snps: rs757167361 rs778705666 rs8070453 rs1131600 rs730882250 rs35394823
name:
2-(3-amino-3-carboxypropyl)histidine synthase subunit 1 (EC 2.5.1.108) (Diphthamide biosynthesis protein 1) (Diphtheria toxin resistance protein 1) (Ovarian cancer-associated gene 1 protein) (S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 1)

sequence:

opentargets:
cell junction [GO:0030054]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; transferase activity [GO:0016740]; cell proliferation [GO:0008283]; peptidyl-diphthamide biosynthetic process from peptidyl-histidine [GO:0017183]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BZG8-1; Sequence=Displayed; Name=2; IsoId=Q9BZG8-2; Sequence=VSP_028852; Name=3; IsoId=Q9BZG8-3; Sequence=VSP_028851; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10519411}. Cytoplasm {ECO:0000269|PubMed:10519411}. Note=Punctate, primarily perinuclear localization.


uniprotID: Q9BQC3
geneSymbol: DPH2
reactome: R-HSA-5358493;
length: 489
go: ENSG00000132768;
name:
2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 (EC 2.5.1.108) (Diphthamide biosynthesis protein 2) (Diphtheria toxin resistance protein 2) (S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 2)

sequence:

opentargets:
cytosol [GO:0005829]; 2-(3-amino-3-carboxypropyl)histidine synthase activity [GO:0090560]; peptidyl-diphthamide biosynthetic process from peptidyl-histidine [GO:0017183]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BQC3-1; Sequence=Displayed; Name=2; IsoId=Q9BQC3-2; Sequence=VSP_047151; Note=Gene prediction based on EST data.; Name=3; IsoId=Q9BQC3-3; Sequence=VSP_056052, VSP_056053; Note=No experimental confirmation available.; 


uniprotID: O60762
geneSymbol: DPM1
reactome: R-HSA-162699;R-HSA-4717374;
length: 260
go: ENSG00000000419;
snps: rs121908583 rs587777116 rs587777114
location: SUBCELLULAR LOCATION: Endoplasmic reticulum.
name:
Dolichol-phosphate mannosyltransferase subunit 1 (EC 2.4.1.83) (Dolichol-phosphate mannose synthase subunit 1) (DPM synthase subunit 1) (Dolichyl-phosphate beta-D-mannosyltransferase subunit 1) (Mannose-P-dolichol synthase subunit 1) (MPD synthase subunit 1)

sequence:

opentargets:
dolichol-phosphate-mannose synthase complex [GO:0033185]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; membrane [GO:0016020]; nucleus [GO:0005634]; dolichyl-phosphate beta-D-mannosyltransferase activity [GO:0004582]; dolichyl-phosphate-mannose-protein mannosyltransferase activity [GO:0004169]; dolichol metabolic process [GO:0019348]; GPI anchor biosynthetic process [GO:0006506]; protein mannosylation [GO:0035268]; protein O-linked mannosylation [GO:0035269]


uniprotID: Q9UJM3
geneSymbol: ERRFI1
pdb: 2RF9;2RFD;2RFE;4I21;4R3P;4R3R;4ZJV;
name: ERBB receptor feedback inhibitor 1 (Mitogen-inducible gene 6 protein) (MIG-6)
length: 462
go: ENSG00000116285;
snps: rs34781518 rs34974993
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; nucleus [GO:0005634]; GTPase activator activity [GO:0005096]; protein kinase binding [GO:0019901]; SH3 domain binding [GO:0017124]; small GTPase binding [GO:0031267]; cellular hyperosmotic response [GO:0071474]; cellular response to dexamethasone stimulus [GO:0071549]; cellular response to epidermal growth factor stimulus [GO:0071364]; cellular response to insulin stimulus [GO:0032869]; cellular response to platelet-derived growth factor stimulus [GO:0036120]; lung alveolus development [GO:0048286]; lung epithelium development [GO:0060428]; lung vasculature development [GO:0060426]; negative regulation of cardiac muscle hypertrophy in response to stress [GO:1903243]; negative regulation of collagen biosynthetic process [GO:0032966]; negative regulation of epidermal growth factor receptor signaling pathway [GO:0042059]; negative regulation of epidermal growth factor-activated receptor activity [GO:0007175]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of interleukin-1 beta production [GO:0032691]; negative regulation of protein autophosphorylation [GO:0031953]; negative regulation of tumor necrosis factor biosynthetic process [GO:0042536]; regulation of keratinocyte differentiation [GO:0045616]; regulation of type B pancreatic cell proliferation [GO:0061469]; skin morphogenesis [GO:0043589]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:7641805}. Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Nucleus {ECO:0000250}. Note=Associated with the plasma membrane of basal skin keratinocytes. Translocates into the nucleus of differentiating suprabasal keratinocytes (By similarity). {ECO:0000250}.


uniprotID: Q9P2X0
geneSymbol: DPM3
reactome: R-HSA-162699;R-HSA-4719360;
sequence: MTKLAQWLWGLAILGSTWVALTTGALGLELPLSCQEVLWPLPAYLLVSAGCYALGTVGYRVATFHDCEDAARELQSQIQEARADLARRGLRF
length: 92
go: ENSG00000179085;
snps: rs121908155
location: SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.
name:
Dolichol-phosphate mannosyltransferase subunit 3 (Dolichol-phosphate mannose synthase subunit 3) (DPM synthase subunit 3) (Dolichyl-phosphate beta-D-mannosyltransferase subunit 3) (Mannose-P-dolichol synthase subunit 3) (MPD synthase subunit 3) (Prostin-1)

opentargets:
dolichol-phosphate-mannose synthase complex [GO:0033185]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of endoplasmic reticulum membrane [GO:0030176]; mannosyltransferase complex [GO:0031501]; membrane [GO:0016020]; carbohydrate metabolic process [GO:0005975]; GPI anchor biosynthetic process [GO:0006506]; protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan [GO:0018406]; protein mannosylation [GO:0035268]; protein O-linked mannosylation [GO:0035269]; regulation of protein stability [GO:0031647]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Short; IsoId=Q9P2X0-1; Sequence=Displayed; Name=2; Synonyms=Long; IsoId=Q9P2X0-2; Sequence=VSP_001308; 


uniprotID: B6SEH8
geneSymbol: ERVV-1
length: 477
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
name:
Endogenous retrovirus group V member 1 Env polyprotein (HERV-V_19q13.41 provirus ancestral Env polyprotein 1)

sequence:


uniprotID: P49005
geneSymbol: POLD2
pdb: 3E0J;
name: DNA polymerase delta subunit 2 (DNA polymerase delta subunit p50)
length: 469
go: ENSG00000106628;
snps: rs3087366
reactome:
R-HSA-110314;R-HSA-174411;R-HSA-174414;R-HSA-174417;R-HSA-174437;R-HSA-5358565;R-HSA-5358606;R-HSA-5651801;R-HSA-5656169;R-HSA-5685942;R-HSA-5696397;R-HSA-5696400;R-HSA-6782135;R-HSA-6782210;R-HSA-69091;R-HSA-69166;R-HSA-69183;

sequence:

opentargets:
delta DNA polymerase complex [GO:0043625]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-directed DNA polymerase activity [GO:0003887]; DNA damage response, detection of DNA damage [GO:0042769]; DNA replication [GO:0006260]; DNA strand elongation involved in DNA replication [GO:0006271]; nucleotide-excision repair, DNA gap filling [GO:0006297]; nucleotide-excision repair, DNA incision [GO:0033683]; nucleotide-excision repair, DNA incision, 5'-to lesion [GO:0006296]; telomere maintenance [GO:0000723]; telomere maintenance via semi-conservative replication [GO:0032201]; transcription-coupled nucleotide-excision repair [GO:0006283]; translesion synthesis [GO:0019985]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:22801543}. Note=Recruited to DNA damage sites within 2 hours following UV irradiation. {ECO:0000269|PubMed:22801543}.


uniprotID: Q9HCU8
geneSymbol: POLD4
name: DNA polymerase delta subunit 4 (DNA polymerase delta subunit p12)
length: 107
go: ENSG00000175482;
snps: rs28364240 rs34136263
reactome:
R-HSA-110314;R-HSA-174411;R-HSA-174414;R-HSA-174417;R-HSA-174437;R-HSA-5358565;R-HSA-5358606;R-HSA-5651801;R-HSA-5656169;R-HSA-5685942;R-HSA-5696397;R-HSA-5696400;R-HSA-6782135;R-HSA-6782210;R-HSA-69091;R-HSA-69166;R-HSA-69183;

sequence:
MGRKRLITDSYPVVKRREGPAGHSKGELAPELGEEPQPRDEEEAELELLRQFDLAWQYGPCTGITRLQRWCRAKQMGLEPPPEVWQVLKTHPGDPRFQCSLWHLYPL

opentargets:
cytosol [GO:0005829]; delta DNA polymerase complex [GO:0043625]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-directed DNA polymerase activity [GO:0003887]; DNA damage response, detection of DNA damage [GO:0042769]; DNA-dependent DNA replication [GO:0006261]; nucleotide-excision repair, DNA gap filling [GO:0006297]; nucleotide-excision repair, DNA incision [GO:0033683]; nucleotide-excision repair, DNA incision, 5'-to lesion [GO:0006296]; telomere maintenance [GO:0000723]; telomere maintenance via semi-conservative replication [GO:0032201]; transcription-coupled nucleotide-excision repair [GO:0006283]; translesion synthesis [GO:0019985]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HCU8-1; Sequence=Displayed; Name=2; IsoId=Q9HCU8-2; Sequence=VSP_046864; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:22801543}. Note=Partially recruited to DNA damage sites within 2 hours following UV irradiation, before degradation. {ECO:0000269|PubMed:22801543}.


uniprotID: Q9UHN1
geneSymbol: POLG2
reactome: R-HSA-2151201;
pdb: 2G4C;3IKL;3IKM;4ZTU;4ZTZ;5C51;5C52;5C53;
length: 485
go: ENSG00000256525;
snps: rs1427463 rs886037843 rs17850455 rs104894632
location: SUBCELLULAR LOCATION: Mitochondrion.
name:
DNA polymerase subunit gamma-2, mitochondrial (EC 2.7.7.7) (DNA polymerase gamma accessory 55 kDa subunit) (p55) (Mitochondrial DNA polymerase accessory subunit) (MtPolB) (PolG-beta)

sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrial chromosome [GO:0000262]; mitochondrial matrix [GO:0005759]; mitochondrial nucleoid [GO:0042645]; mitochondrion [GO:0005739]; DNA binding [GO:0003677]; DNA-directed DNA polymerase activity [GO:0003887]; identical protein binding [GO:0042802]; DNA repair [GO:0006281]; DNA replication [GO:0006260]; DNA-dependent DNA replication [GO:0006261]; in utero embryonic development [GO:0001701]; mitochondrial DNA replication [GO:0006264]; mitochondrion morphogenesis [GO:0070584]; mitochondrion organization [GO:0007005]; respiratory electron transport chain [GO:0022904]


uniprotID: Q9BWP8
geneSymbol: COLEC11
reactome: R-HSA-166662;R-HSA-166663;R-HSA-3000480;
pdb: 4YLI;4YMD;
name: Collectin-11 (Collectin kidney protein 1) (CL-K1)
length: 271
go: ENSG00000118004;
snps: rs387907075 rs387907076 rs7567833
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:25912189}.
sequence:

opentargets:
collagen trimer [GO:0005581]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; calcium ion binding [GO:0005509]; calcium-dependent carbohydrate binding [GO:0120153]; DNA binding [GO:0003677]; fucose binding [GO:0042806]; mannose binding [GO:0005537]; monosaccharide binding [GO:0048029]; oligosaccharide binding [GO:0070492]; serine-type endopeptidase activity [GO:0004252]; antimicrobial humoral response [GO:0019730]; complement activation [GO:0006956]; complement activation, lectin pathway [GO:0001867]; developmental process [GO:0032502]; execution phase of apoptosis [GO:0097194]; multicellular organism development [GO:0007275]; receptor-mediated endocytosis [GO:0006898]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=10;  Name=1; Synonyms=CL-K1-I; IsoId=Q9BWP8-1; Sequence=Displayed; Name=2; Synonyms=CL-K1-Ia; IsoId=Q9BWP8-2; Sequence=VSP_030468; Name=3; Synonyms=CL-K1-Ib; IsoId=Q9BWP8-3; Sequence=VSP_030470; Name=4; Synonyms=CL-K1-II; IsoId=Q9BWP8-4; Sequence=VSP_030466; Name=5; Synonyms=CL-K1-Ic; IsoId=Q9BWP8-5; Sequence=VSP_030467; Name=6; Synonyms=CL-K1-IIa; IsoId=Q9BWP8-6; Sequence=VSP_030465, VSP_030469; Name=7; Synonyms=CL-K1-IIb; IsoId=Q9BWP8-7; Sequence=VSP_030466, VSP_030470; Name=8; Synonyms=CL-K1-IIc; IsoId=Q9BWP8-8; Sequence=VSP_030463, VSP_030471; Name=9; IsoId=Q9BWP8-9; Sequence=VSP_030464; Name=10; IsoId=Q9BWP8-10; Sequence=VSP_045532; Note=No experimental confirmation available.; 


uniprotID: Q7Z5Q1
geneSymbol: CPEB2
name: Cytoplasmic polyadenylation element-binding protein 2 (CPE-BP2) (CPE-binding protein 2) (hCPEB-2)
length: 589
go: ENSG00000137449;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q812E0}.
sequence:

opentargets:
cytoplasm [GO:0005737]; messenger ribonucleoprotein complex [GO:1990124]; neuron projection [GO:0043005]; nucleus [GO:0005634]; synapse [GO:0045202]; GTPase inhibitor activity [GO:0005095]; mRNA 3'-UTR AU-rich region binding [GO:0035925]; mRNA 3'-UTR binding [GO:0003730]; ribosomal large subunit binding [GO:0043023]; ribosomal small subunit binding [GO:0043024]; ribosome binding [GO:0043022]; RNA binding [GO:0003723]; translation factor activity, RNA binding [GO:0008135]; translation repressor activity, mRNA regulatory element binding [GO:0000900]; cellular response to arsenic-containing substance [GO:0071243]; cellular response to hypoxia [GO:0071456]; cellular response to insulin stimulus [GO:0032869]; cellular response to oxidative stress [GO:0034599]; negative regulation of cytoplasmic translation [GO:2000766]; negative regulation of cytoplasmic translational elongation [GO:1900248]; negative regulation of GTPase activity [GO:0034260]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; IsoId=Q7Z5Q1-2; Sequence=Displayed; Name=2; IsoId=Q7Z5Q1-3; Sequence=VSP_022030, VSP_027372; Name=3; IsoId=Q7Z5Q1-4; Sequence=VSP_022032; Name=4; Synonyms=CPEB2b; IsoId=Q7Z5Q1-5; Sequence=VSP_022031; Name=5; IsoId=Q7Z5Q1-6; Sequence=VSP_022031, VSP_027372; Name=6; IsoId=Q7Z5Q1-7; Sequence=VSP_022030, VSP_022032, VSP_027372; Name=7; IsoId=Q7Z5Q1-8; Sequence=VSP_055670, VSP_022032, VSP_027372; Note=No experimental confirmation available. Gene prediction based on EST data.; Name=8; IsoId=Q7Z5Q1-9; Sequence=VSP_055670, VSP_027372; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: Q96MC5
geneSymbol: C16orf45
name: Uncharacterized protein C16orf45
length: 204
go: ENSG00000166780;
sequence:

opentargets:
microtubule cytoskeleton [GO:0015630]; negative regulation of cell motility involved in cerebral cortex radial glia guided migration [GO:0021822]; negative regulation of microtubule depolymerization [GO:0007026]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96MC5-1; Sequence=Displayed; Name=2; IsoId=Q96MC5-2; Sequence=VSP_047232; Note=No experimental confirmation available.; 


uniprotID: Q16696
geneSymbol: CYP2A13
reactome: R-HSA-211935;R-HSA-211981;R-HSA-211999;R-HSA-5423646;
pdb: 2P85;2PG5;2PG6;2PG7;3T3S;4EJG;4EJH;4EJI;
name: Cytochrome P450 2A13 (EC 1.14.14.1) (CYPIIA13)
length: 494
go: ENSG00000197838;
drug: DB00553;DB00184;DB03783;DB00624;
snps: rs8192784 rs148044792 rs112337232 rs8192789 rs72547590 rs138870349
sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; intracellular membrane-bounded organelle [GO:0043231]; organelle membrane [GO:0031090]; arachidonic acid epoxygenase activity [GO:0008392]; aromatase activity [GO:0070330]; coumarin 7-hydroxylase activity [GO:0008389]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; monooxygenase activity [GO:0004497]; 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]; coumarin metabolic process [GO:0009804]; epoxygenase P450 pathway [GO:0019373]; exogenous drug catabolic process [GO:0042738]; organic acid metabolic process [GO:0006082]; oxidation-reduction process [GO:0055114]; xenobiotic metabolic process [GO:0006805]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.


uniprotID: Q9Y6N1
geneSymbol: COX11
reactome: R-HSA-5628897;R-HSA-611105;
name: Cytochrome c oxidase assembly protein COX11, mitochondrial
length: 276
go: ENSG00000166260;
snps: rs34080917
sequence:

opentargets:
integral component of mitochondrial inner membrane [GO:0031305]; mitochondrion [GO:0005739]; protein-containing complex [GO:0032991]; copper ion binding [GO:0005507]; cytochrome-c oxidase activity [GO:0004129]; electron transfer activity [GO:0009055]; metal ion homeostasis [GO:0055065]; negative regulation of glucokinase activity [GO:0033132]; respiratory chain complex IV assembly [GO:0008535]; respiratory gaseous exchange [GO:0007585]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y6N1-1; Sequence=Displayed; Name=2; IsoId=Q9Y6N1-2; Sequence=VSP_046360; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:15229189, ECO:0000269|PubMed:9878253}; Single-pass membrane protein {ECO:0000269|PubMed:9878253}; Intermembrane side {ECO:0000269|PubMed:9878253}.


uniprotID: Q9UBF2
geneSymbol: COPG2
reactome: R-HSA-6807878;R-HSA-6811434;
name: Coatomer subunit gamma-2 (Gamma-2-coat protein) (Gamma-2-COP)
length: 871
go: ENSG00000158623;
snps: rs10128 rs17333054
sequence:

opentargets:
COPI vesicle coat [GO:0030126]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; membrane [GO:0016020]; transport vesicle [GO:0030133]; structural molecule activity [GO:0005198]; ER to Golgi vesicle-mediated transport [GO:0006888]; intra-Golgi vesicle-mediated transport [GO:0006891]; intracellular protein transport [GO:0006886]; organelle transport along microtubule [GO:0072384]; protein secretion [GO:0009306]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UBF2-1; Sequence=Displayed; Name=2; IsoId=Q9UBF2-2; Sequence=VSP_055534, VSP_055535; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250}. Golgi apparatus membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Cytoplasmic vesicle, COPI-coated vesicle membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Note=The coatomer is cytoplasmic or polymerized on the cytoplasmic side of the Golgi, as well as on the vesicles/buds originating from it. Tends to be more abundant in the trans-Golgi network compared to the cis-Golgi. {ECO:0000250}.


uniprotID: Q14CZ0
geneSymbol: C16orf72
name: UPF0472 protein C16orf72
length: 275
go: ENSG00000182831;
snps: rs34869458
sequence:


uniprotID: Q6ZWL3
geneSymbol: CYP4V2
reactome: R-HSA-211976;R-HSA-2453902;
name: Cytochrome P450 4V2 (EC 1.14.14.-) (Docosahexaenoic acid omega-hydroxylase CYP4V2) (EC 1.14.14.79)
length: 525
go: ENSG00000145476;
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; monooxygenase activity [GO:0004497]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen [GO:0016705]; fatty acid omega-oxidation [GO:0010430]; response to stimulus [GO:0050896]; retinoid metabolic process [GO:0001523]; sterol metabolic process [GO:0016125]; visual perception [GO:0007601]

snps:
rs1055138 rs119103282 rs119103285 rs199476185 rs119103283 rs149684063 rs34331648 rs13146272 rs34745240 rs199476197 rs199476199 rs61755911 rs72646291 rs119103284 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZWL3-1; Sequence=Displayed; Name=2; IsoId=Q6ZWL3-2; Sequence=VSP_014918; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:22772592}; Single-pass membrane protein {ECO:0000305}.


uniprotID: Q96P44
geneSymbol: COL21A1
reactome: R-HSA-1650814;R-HSA-8948216;
name: Collagen alpha-1(XXI) chain
length: 957
go: ENSG00000124749;
snps: rs2764043 rs35471617 rs35583895 rs9382581 rs9464337 rs12209452 rs1555131
sequence:

opentargets:
collagen trimer [GO:0005581]; collagen-containing extracellular matrix [GO:0062023]; cytosol [GO:0005829]; endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extracellular matrix structural constituent conferring tensile strength [GO:0030020]; growth plate cartilage chondrocyte morphogenesis [GO:0003429]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96P44-1; Sequence=Displayed; Name=2; IsoId=Q96P44-2; Sequence=VSP_031083, VSP_031085, VSP_031086; Note=No experimental confirmation available.; Name=3; IsoId=Q96P44-3; Sequence=VSP_031084; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:11863369}. Cytoplasm {ECO:0000269|PubMed:11863369}. Note=Found in the extracellular matrix component of blood vessel walls and in the cytoplasm of cultured human aortic smooth muscle.


uniprotID: Q9Y215
geneSymbol: COLQ
pdb: 1VZJ;
length: 455
go: ENSG00000206561;
snps: rs6782980 rs1057521153 rs758554049 rs1025361623 rs121908923
location: SUBCELLULAR LOCATION: Cell junction, synapse.
name:
Acetylcholinesterase collagenic tail peptide (AChE Q subunit) (Acetylcholinesterase-associated collagen)

sequence:

opentargets:
basement membrane [GO:0005604]; cell junction [GO:0030054]; collagen trimer [GO:0005581]; extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; neuromuscular junction [GO:0031594]; plasma membrane [GO:0005886]; synaptic cleft [GO:0043083]; extracellular matrix structural constituent [GO:0005201]; heparin binding [GO:0008201]; acetylcholine catabolic process in synaptic cleft [GO:0001507]; establishment of protein localization to membrane [GO:0090150]; extracellular matrix organization [GO:0030198]; regulation of synaptic growth at neuromuscular junction [GO:0008582]; skeletal muscle acetylcholine-gated channel clustering [GO:0071340]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=I; IsoId=Q9Y215-1; Sequence=Displayed; Name=II; IsoId=Q9Y215-2; Sequence=VSP_001175; Name=III; IsoId=Q9Y215-3; Sequence=VSP_001177; Name=IV; IsoId=Q9Y215-4; Sequence=VSP_001176; Name=V; IsoId=Q9Y215-5; Sequence=VSP_001178; Name=VI; IsoId=Q9Y215-6; Sequence=VSP_001179, VSP_001183; Name=VII; IsoId=Q9Y215-7; Sequence=VSP_001180, VSP_001182; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=VIII; IsoId=Q9Y215-8; Sequence=VSP_001181, VSP_001184; 


uniprotID: Q8WTQ4
geneSymbol: C16orf78
name: Uncharacterized protein C16orf78
length: 265
go: ENSG00000166152;
opentargets: nucleus [GO:0005634]
snps: rs16947350
sequence:


uniprotID: Q8N9R0
geneSymbol: LINC00304
name: Putative uncharacterized protein encoded by LINC00304
length: 145
sequence:
MQYLHCCLQIAPNQEGMVQAGGQGHGLARVVLRAVLSPPCWAPHSPCGSPAATEAGRLMRRLPSVGGRMTAPKTPRFLTRRPPASSPEDPPLPHPKTPRFLTQRPPASLPRRPRFLTLGPVSSHSSGDLRLWTAHQLPQQGGCPG


uniprotID: Q6PH81
geneSymbol: C16orf87
name: UPF0547 protein C16orf87
length: 154
go: ENSG00000155330;
sequence:
MSATRAKKVKMATKSCPECDQQVPVACKSCPCGYIFISRKLLNAKHSEKSPPSTENKHEAKRRRTERVRREKINSTVNKDLENRKRSRSNSHSDHIRRGRGRPKSASAKKHEEEREKQEKEIDIYANLSDEKAFVFSVALAEINRKIINQRLIL

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6PH81-1; Sequence=Displayed; Name=2; IsoId=Q6PH81-2; Sequence=VSP_032670; 


uniprotID: Q53SF7
geneSymbol: COBLL1
pdb: 2DAJ;
name: Cordon-bleu protein-like 1
length: 1204
go: ENSG00000082438;
opentargets: extracellular exosome [GO:0070062]; actin binding [GO:0003779]; cadherin binding [GO:0045296]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q53SF7-1; Sequence=Displayed; Name=2; IsoId=Q53SF7-2; Sequence=VSP_021624, VSP_021625; Name=3; IsoId=Q53SF7-3; Sequence=VSP_021621; Name=4; IsoId=Q53SF7-4; Sequence=VSP_021621, VSP_021624, VSP_021625; Name=5; IsoId=Q53SF7-5; Sequence=VSP_021621, VSP_021622, VSP_021623; 


uniprotID: Q17RW2
geneSymbol: COL24A1
reactome: R-HSA-1650814;R-HSA-2022090;R-HSA-8874081;R-HSA-8948216;
name: Collagen alpha-1(XXIV) chain
length: 1714
go: ENSG00000171502;
snps: rs11161747 rs1027819 rs17128866 rs10493784 rs11161732 rs60891279 rs641712 rs7520146
sequence:

opentargets:
collagen trimer [GO:0005581]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extracellular matrix structural constituent [GO:0005201]; extracellular matrix structural constituent conferring tensile strength [GO:0030020]; extracellular matrix organization [GO:0030198]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q17RW2-1; Sequence=Displayed; Name=2; IsoId=Q17RW2-2; Sequence=VSP_031090; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000255|PROSITE-ProRule:PRU00793}.


uniprotID: Q9Y2Z9
geneSymbol: COQ6
reactome: R-HSA-2142789;
length: 468
go: ENSG00000119723;
snps: rs606231262 rs1057519350 rs371260604 rs17851169 rs1044640 rs2074930 rs397514479 rs34746680 rs8500
name:
Ubiquinone biosynthesis monooxygenase COQ6, mitochondrial (EC 1.14.13.-) (Coenzyme Q10 monooxygenase 6)

sequence:

opentargets:
cell projection [GO:0042995]; extrinsic component of mitochondrial inner membrane [GO:0031314]; Golgi apparatus [GO:0005794]; mitochondrion [GO:0005739]; FAD binding [GO:0071949]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen [GO:0016709]; 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]; ubiquinone biosynthetic process [GO:0006744]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=a; IsoId=Q9Y2Z9-1; Sequence=Displayed; Name=2; Synonyms=b; IsoId=Q9Y2Z9-2; Sequence=VSP_044060, VSP_044062; Name=3; Synonyms=c; IsoId=Q9Y2Z9-3; Sequence=VSP_044061; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000255|HAMAP-Rule:MF_03193}; Peripheral membrane protein {ECO:0000255|HAMAP-Rule:MF_03193}; Matrix side {ECO:0000255|HAMAP-Rule:MF_03193}. Golgi apparatus {ECO:0000255|HAMAP-Rule:MF_03193}. Cell projection {ECO:0000255|HAMAP-Rule:MF_03193}. Note=Localizes to cell processes and Golgi apparatus in podocytes. {ECO:0000255|HAMAP-Rule:MF_03193}.


uniprotID: P05093
geneSymbol: CYP17A1
reactome: R-HSA-193048;R-HSA-194002;R-HSA-211976;R-HSA-5579028;
pdb: 2C17;3RUK;3SWZ;4NKV;4NKW;4NKX;4NKY;4NKZ;5IRQ;5IRV;5UYS;6CHI;6CIR;6CIZ;
length: 508
go: ENSG00000148795;
drug: DB05812;DB04630;DB01424;DB01234;DB02901;DB01233;DB00157;DB00396;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}.
name:
Steroid 17-alpha-hydroxylase/17,20 lyase (EC 1.14.14.19) (17-alpha-hydroxyprogesterone aldolase) (EC 1.14.14.32) (CYPXVII) (Cytochrome P450 17A1) (Cytochrome P450-C17) (Cytochrome P450c17) (Steroid 17-alpha-monooxygenase)

sequence:

opentargets:
axon [GO:0030424]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; neuronal cell body [GO:0043025]; 17-alpha-hydroxyprogesterone aldolase activity [GO:0047442]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; oxygen binding [GO:0019825]; steroid 17-alpha-monooxygenase activity [GO:0004508]; androgen biosynthetic process [GO:0006702]; glucocorticoid biosynthetic process [GO:0006704]; hormone biosynthetic process [GO:0042446]; progesterone metabolic process [GO:0042448]; sex differentiation [GO:0007548]; steroid biosynthetic process [GO:0006694]; steroid metabolic process [GO:0008202]; sterol metabolic process [GO:0016125]

snps:
rs762563 rs104894146 rs104894153 rs104894138 rs104894135 rs104894147 rs104894148 rs104894144 rs104894137 rs104894149 rs61754278 rs104894139 rs104894142 rs760695410 rs104894143 rs104894140 rs104894145 rs777638364 rs763398879 


uniprotID: P31327
geneSymbol: CPS1
reactome: R-HSA-70635;
pdb: 2YVQ;4UTR;4UTV;4UTX;4UTZ;4UU7;4UU8;4UUA;4UUB;5DOT;5DOU;5OJO;
length: 1500
go: ENSG00000021826;
drug: DB06775;
name:
Carbamoyl-phosphate synthase [ammonia], mitochondrial (EC 6.3.4.16) (Carbamoyl-phosphate synthetase I) (CPSase I)

sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrial inner membrane [GO:0005743]; mitochondrial matrix [GO:0005759]; mitochondrial nucleoid [GO:0042645]; nucleolus [GO:0005730]; protein-containing complex [GO:0032991]; aspartate carbamoyltransferase activity [GO:0004070]; ATP binding [GO:0005524]; calcium ion binding [GO:0005509]; carbamoyl-phosphate synthase (ammonia) activity [GO:0004087]; carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity [GO:0004088]; dihydroorotase activity [GO:0004151]; endopeptidase activity [GO:0004175]; glutamate binding [GO:0016595]; modified amino acid binding [GO:0072341]; phospholipid binding [GO:0005543]; protein-containing complex binding [GO:0044877]; 'de novo' pyrimidine nucleobase biosynthetic process [GO:0006207]; anion homeostasis [GO:0055081]; arginine biosynthetic process [GO:0006526]; carbamoyl phosphate biosynthetic process [GO:0070409]; cellular response to ammonia [GO:1903718]; cellular response to cAMP [GO:0071320]; cellular response to fibroblast growth factor stimulus [GO:0044344]; cellular response to glucagon stimulus [GO:0071377]; cellular response to oleic acid [GO:0071400]; citrulline biosynthetic process [GO:0019240]; glutamine metabolic process [GO:0006541]; hepatocyte differentiation [GO:0070365]; homocysteine metabolic process [GO:0050667]; midgut development [GO:0007494]; nitric oxide metabolic process [GO:0046209]; response to amine [GO:0014075]; response to amino acid [GO:0043200]; response to dexamethasone [GO:0071548]; response to food [GO:0032094]; response to growth hormone [GO:0060416]; response to lipopolysaccharide [GO:0032496]; response to starvation [GO:0042594]; response to zinc ion [GO:0010043]; triglyceride catabolic process [GO:0019433]; urea cycle [GO:0000050]; vasodilation [GO:0042311]

snps:
rs375979196 rs767905306 rs752902711 rs753751183 rs973321068 rs775920437 rs28940283 rs1047883 rs1047883 rs149930500 rs201407486 rs760895692 rs778766382 rs772497399 rs371350538 rs121912592 rs777233486 rs1048119191 rs757205958 rs142693704 rs369061090 rs752339705 rs758724746 rs201716417 rs201716417 rs201716417 rs772782772 rs1015051007 rs767694281 rs147062907 rs754706559 rs765484849 rs760714614 rs537170841 rs1191587211 rs955666400 rs534815243 rs121912595 rs757059355 rs121912595 rs990390709 rs749238466 rs770471782 rs766125631 rs149518280 rs141373204 rs778117194 rs750670270 rs1047886 rs1047887 rs372645328 rs140578009 rs1047891 rs1202306773 rs933813349 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P31327-1; Sequence=Displayed; Name=2; IsoId=P31327-2; Sequence=VSP_009332; Name=3; IsoId=P31327-3; Sequence=VSP_046685; 

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:22002106}. Nucleus, nucleolus {ECO:0000269|PubMed:22002106}.


uniprotID: Q8N436
geneSymbol: CPXM2
name: Inactive carboxypeptidase-like protein X2
length: 756
go: ENSG00000121898;
snps: rs7088479
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

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


uniprotID: Q16555
geneSymbol: DPYSL2
reactome: R-HSA-399956;R-HSA-437239;
pdb: 2GSE;2VM8;5LXX;5MKV;5MLE;5X1A;5X1C;5X1D;5YZ5;5YZA;5YZB;
length: 572
go: ENSG00000092964;
snps: rs2228979
name:
Dihydropyrimidinase-related protein 2 (DRP-2) (Collapsin response mediator protein 2) (CRMP-2) (N2A3) (Unc-33-like phosphoprotein 2) (ULIP-2)

sequence:

opentargets:
cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; plasma membrane [GO:0005886]; dihydropyrimidinase activity [GO:0004157]; identical protein binding [GO:0042802]; microtubule binding [GO:0008017]; axon guidance [GO:0007411]; brain development [GO:0007420]; cytoskeleton organization [GO:0007010]; endocytosis [GO:0006897]; nervous system development [GO:0007399]; nucleobase-containing compound metabolic process [GO:0006139]; regulation of axon extension [GO:0030516]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q16555-1; Sequence=Displayed; Name=2; IsoId=Q16555-2; Sequence=VSP_044941; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:20801876}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:20801876}. Membrane {ECO:0000269|PubMed:20801876}. Note=Tightly but non-covalently associated with membranes.


uniprotID: P24468
geneSymbol: NR2F2
reactome: R-HSA-381340;
pdb: 3CJW;
length: 414
go: ENSG00000185551;
snps: rs587777372 rs587777371 rs201527820
location: SUBCELLULAR LOCATION: Nucleus.
name:
COUP transcription factor 2 (COUP-TF2) (Apolipoprotein A-I regulatory protein 1) (ARP-1) (COUP transcription factor II) (COUP-TF II) (Nuclear receptor subfamily 2 group F member 2)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; nuclear receptor activity [GO:0004879]; protein homodimerization activity [GO:0042803]; retinoic acid binding [GO:0001972]; sequence-specific DNA binding [GO:0043565]; steroid hormone receptor activity [GO:0003707]; transcription corepressor activity [GO:0003714]; zinc ion binding [GO:0008270]; anterior/posterior pattern specification [GO:0009952]; blood vessel morphogenesis [GO:0048514]; fertilization [GO:0009566]; forebrain development [GO:0030900]; limb development [GO:0060173]; lipid metabolic process [GO:0006629]; maternal placenta development [GO:0001893]; negative regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045736]; negative regulation of endothelial cell migration [GO:0010596]; negative regulation of endothelial cell proliferation [GO:0001937]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; neuron migration [GO:0001764]; placenta blood vessel development [GO:0060674]; positive regulation of systemic arterial blood pressure [GO:0003084]; positive regulation of transcription, DNA-templated [GO:0045893]; radial pattern formation [GO:0009956]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription involved in lymphatic endothelial cell fate commitment [GO:0060849]; response to estradiol [GO:0032355]; signal transduction [GO:0007165]; skeletal muscle tissue development [GO:0007519]; trophoblast giant cell differentiation [GO:0060707]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P24468-1; Sequence=Displayed; Name=2; IsoId=P24468-2; Sequence=VSP_042630; Name=3; IsoId=P24468-3; Sequence=VSP_043897; 


uniprotID: Q9P218
geneSymbol: COL20A1
reactome: R-HSA-1650814;R-HSA-8948216;
pdb: 2DKM;2EE3;2EKJ;5KF4;
name: Collagen alpha-1(XX) chain
length: 1284
go: ENSG00000101203;
snps: rs753686
location: SUBCELLULAR LOCATION: Secreted, extracellular space {ECO:0000305}.
sequence:

opentargets:
collagen trimer [GO:0005581]; endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; calcium ion binding [GO:0005509]; mannose binding [GO:0005537]; complement activation, lectin pathway [GO:0001867]; growth plate cartilage chondrocyte morphogenesis [GO:0003429]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9P218-1; Sequence=Displayed; Name=2; IsoId=Q9P218-2; Sequence=VSP_038876, VSP_038878; Name=3; IsoId=Q9P218-3; Sequence=VSP_038877; Note=No experimental confirmation available.; 


uniprotID: Q14019
geneSymbol: COTL1
reactome: R-HSA-6798695;
pdb: 1T2L;1T3X;1T3Y;1TMW;1VFQ;1WNJ;
name: Coactosin-like protein
length: 142
go: ENSG00000103187;
sequence:
MATKIDKEACRAAYNLVRDDGSAVIWVTFKYDGSTIVPGEQGAEYQHFIQQCTDDVRLFAFVRFTTGDAMSKRSKFALITWIGENVSGLQRAKTGTDKTLVKEVVQNFAKEFVISDRKELEEDFIKSELKKAGGANYDAQTE

opentargets:
cytoskeleton [GO:0005856]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; nucleus [GO:0005634]; secretory granule lumen [GO:0034774]; actin binding [GO:0003779]; enzyme binding [GO:0019899]; defense response to fungus [GO:0050832]; neutrophil degranulation [GO:0043312]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11583571}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:11583571}. Nucleus {ECO:0000269|PubMed:19807693}.


uniprotID: Q5SY13
geneSymbol: COL5A1-AS1
sequence: MRRPWEKKEATRNPIAEVLARKKRTEELISLQEHGSRKQKIKEASISWAETSRQIG
length: 56
name:
Putative uncharacterized protein encoded by COL5A1-AS1 (COL5A1 antisense RNA 1) (COL5A1 antisense gene protein 1)


uniprotID: Q2UY09
geneSymbol: COL28A1
reactome: R-HSA-1650814;R-HSA-8948216;
name: Collagen alpha-1(XXVIII) chain
length: 1125
go: ENSG00000215018;
snps: rs7804532 rs10486180 rs10486176 rs6952195 rs55745506 rs17167927 rs17167102
sequence:

opentargets:
basement membrane [GO:0005604]; collagen trimer [GO:0005581]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extracellular matrix structural constituent [GO:0005201]; extracellular matrix structural constituent conferring tensile strength [GO:0030020]; serine-type endopeptidase inhibitor activity [GO:0004867]; cell adhesion [GO:0007155]; extracellular matrix organization [GO:0030198]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q2UY09-1; Sequence=Displayed; Name=2; IsoId=Q2UY09-2; Sequence=VSP_031093, VSP_031094; Name=3; IsoId=Q2UY09-3; Sequence=VSP_031091, VSP_031092; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane {ECO:0000250}.


uniprotID: P83436
geneSymbol: COG7
reactome: R-HSA-6807878;R-HSA-6811438;R-HSA-6811440;
length: 770
go: ENSG00000168434;
snps: rs16940094
name:
Conserved oligomeric Golgi complex subunit 7 (COG complex subunit 7) (Component of oligomeric Golgi complex 7)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; Golgi transport complex [GO:0017119]; nucleolus [GO:0005730]; trans-Golgi network membrane [GO:0032588]; ER to Golgi vesicle-mediated transport [GO:0006888]; Golgi organization [GO:0007030]; intracellular protein transport [GO:0006886]; protein glycosylation [GO:0006486]; protein localization to Golgi apparatus [GO:0034067]; protein localization to organelle [GO:0033365]; protein stabilization [GO:0050821]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:11980916}; Peripheral membrane protein {ECO:0000269|PubMed:11980916}.


uniprotID: Q7Z4G1
geneSymbol: COMMD6
reactome: R-HSA-8951664;
name: COMM domain-containing protein 6
sequence: MEASSEPPLDAKSDVTNQLVDFQWKLGMAVSSDTCRSLKYPYVAVMLKVADHSGQVKTKCFEMTIPQFQNFYRQFKEIAAVIETV
length: 85
go: ENSG00000188243;
snps: rs1063485
opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; NF-kappaB binding [GO:0051059]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z4G1-1; Sequence=Displayed; Name=2; IsoId=Q7Z4G1-2; Sequence=VSP_026593; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16573520, ECO:0000269|PubMed:21778237}. Cytoplasm {ECO:0000269|PubMed:16573520}.


uniprotID: P35606
geneSymbol: COPB2
reactome: R-HSA-6807878;R-HSA-6811434;
name: Coatomer subunit beta' (Beta'-coat protein) (Beta'-COP) (p102)
length: 906
go: ENSG00000184432;
snps: rs1229568621
sequence:

opentargets:
COPI vesicle coat [GO:0030126]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; Golgi membrane [GO:0000139]; transport vesicle [GO:0030133]; structural molecule activity [GO:0005198]; ER to Golgi vesicle-mediated transport [GO:0006888]; intra-Golgi vesicle-mediated transport [GO:0006891]; intracellular protein transport [GO:0006886]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]; toxin transport [GO:1901998]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P35606-1; Sequence=Displayed; Name=2; IsoId=P35606-2; Sequence=VSP_056165; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250}. Golgi apparatus membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Cytoplasmic vesicle, COPI-coated vesicle membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Note=The coatomer is cytoplasmic or polymerized on the cytoplasmic side of the Golgi, as well as on the vesicles/buds originating from it. Shows only a slight preference for the cis-Golgi apparatus, compared with the trans-Golgi. {ECO:0000250}.


uniprotID: Q9NQ92
geneSymbol: COPRS
reactome: R-HSA-3214858;
name: Coordinator of PRMT5 and differentiation stimulator (Cooperator of PRMT5) (Protein TTP1)
length: 184
go: ENSG00000172301;
snps: rs8068049
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18404153}.
sequence:
MDLQAAGAQAQGAAEPSRGPPLPSARGAPPSPEAGFATADHSSQERETEKAMDRLARGTQSIPNDSPARGEGTHSEEEGFAMDEEDSDGELNTWELSEGTNCPPKEQPGDLFNEDWDSELKADQGNPYDADDIQESISQELKPWVCCAPQGDMIYDPSWHHPPPLIPYYSKMVFETGQFDDAED

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; histone binding [GO:0042393]; histone H4-R3 methylation [GO:0043985]; muscle organ development [GO:0007517]


uniprotID: Q96KJ9
geneSymbol: COX4I2
length: 171
go: ENSG00000131055;
snps: rs119455950 rs11907253
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane.
name:
Cytochrome c oxidase subunit 4 isoform 2, mitochondrial (Cytochrome c oxidase subunit IV isoform 2) (COX IV-2)

sequence:
MLPRAAWSLVLRKGGGGRRGMHSSEGTTRGGGKMSPYTNCYAQRYYPMPEEPFCTELNAEEQALKEKEKGSWTQLTHAEKVALYRLQFNETFAEMNRRSNEWKTVMGCVFFFIGFAALVIWWQRVYVFPPKPITLTDERKAQQLQRMLDMKVNPVQGLASRWDYEKKQWKK

opentargets:
mitochondrial respiratory chain complex IV [GO:0005751]; cytochrome-c oxidase activity [GO:0004129]; cellular respiration [GO:0045333]; cellular response to hypoxia [GO:0071456]; generation of precursor metabolites and energy [GO:0006091]; mitochondrial electron transport, cytochrome c to oxygen [GO:0006123]; oxidation-reduction process [GO:0055114]


uniprotID: P33260
geneSymbol: CYP2C18
reactome: R-HSA-211981;
pdb: 2CIK;2H6P;
name: Cytochrome P450 2C18 (EC 1.14.14.1) (CYPIIC18) (Cytochrome P450-6b/29c)
length: 490
go: ENSG00000108242;
snps: rs1126545
sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; intracellular membrane-bounded organelle [GO:0043231]; organelle membrane [GO:0031090]; arachidonic acid epoxygenase activity [GO:0008392]; aromatase activity [GO:0070330]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; monooxygenase activity [GO:0004497]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen [GO:0016712]; oxygen binding [GO:0019825]; steroid hydroxylase activity [GO:0008395]; 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]

drug:
DB07670;DB01424;DB01435;DB00921;DB00349;DB01559;DB00531;DB00250;DB01151;DB00829;DB00586;DB01075;DB01181;DB00458;DB00448;DB00281;DB00333;DB00338;DB00082;DB00850;DB01174;DB00252;DB00818;DB01124;DB00755;DB01361;DB00313;DB00661;DB06684;DB00682;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P33260-1; Sequence=Displayed; Name=2; IsoId=P33260-2; Sequence=VSP_042520; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.


uniprotID: P11509
geneSymbol: CYP2A6
reactome: R-HSA-211981;R-HSA-211999;
pdb: 1Z10;1Z11;2FDU;2FDV;2FDW;2FDY;3EBS;3T3Q;3T3R;4EJJ;4RUI;
length: 494
name:
Cytochrome P450 2A6 (EC 1.14.13.-) (1,4-cineole 2-exo-monooxygenase) (CYPIIA6) (Coumarin 7-hydroxylase) (Cytochrome P450 IIA3) (Cytochrome P450(I))

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic microtubule [GO:0005881]; endoplasmic reticulum membrane [GO:0005789]; intracellular membrane-bounded organelle [GO:0043231]; organelle membrane [GO:0031090]; arachidonic acid epoxygenase activity [GO:0008392]; coumarin 7-hydroxylase activity [GO:0008389]; enzyme binding [GO:0019899]; 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]; coumarin catabolic process [GO:0046226]; coumarin metabolic process [GO:0009804]; drug metabolic process [GO:0017144]; epoxygenase P450 pathway [GO:0019373]; exogenous drug catabolic process [GO:0042738]; organic acid metabolic process [GO:0006082]; oxidation-reduction process [GO:0055114]; steroid metabolic process [GO:0008202]; xenobiotic metabolic process [GO:0006805]

drug:
DB07621;DB04665;DB00316;DB01118;DB00381;DB01351;DB00182;DB01435;DB01274;DB00972;DB00207;DB00921;DB01156;DB00356;DB00568;DB00604;DB00636;DB00882;DB00257;DB00363;DB00531;DB06292;DB01151;DB01234;DB01191;DB00255;DB00470;DB00216;DB04953;DB04841;DB01544;DB00544;DB00690;DB01213;DB00983;DB01159;DB01181;DB00951;DB01026;DB01006;DB00281;DB04871;DB01043;DB00170;DB00763;DB00553;DB01028;DB01011;DB01110;DB00471;DB07617;DB00238;DB00184;DB01115;DB06712;DB01059;DB00312;DB03783;DB01174;DB01085;DB04977;DB00860;DB00396;DB00818;DB01045;DB00412;DB01037;DB01236;DB06729;DB00675;DB00752;DB00755;DB01361;DB00313;DB09068;DB00495;

snps:
rs28399434 rs28399435 rs72549435 rs28399440 rs4986891 rs59552350 rs1801272 rs56256500 rs56256500 rs28399447 rs2644906 rs4997557 rs28399454 rs1809810 rs28399463 rs8192730 rs5031016 rs6413474 rs5031017 rs28399468 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.


uniprotID: Q8NHY2
geneSymbol: COP1
reactome: R-HSA-349425;R-HSA-8951664;
pdb: 5HQG;5IGQ;
length: 731
go: ENSG00000143207;
location: SUBCELLULAR LOCATION: Nucleus speckle. Cytoplasm. Note=In the nucleus, it forms nuclear speckles.
name:
E3 ubiquitin-protein ligase COP1 (EC 2.3.2.27) (Constitutive photomorphogenesis protein 1 homolog) (hCOP1) (RING finger and WD repeat domain protein 2) (RING finger protein 200) (RING-type E3 ubiquitin transferase RFWD2)

sequence:

opentargets:
Cul4A-RING E3 ubiquitin ligase complex [GO:0031464]; cytosol [GO:0005829]; Golgi membrane [GO:0000139]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; metal ion binding [GO:0046872]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; post-translational protein modification [GO:0043687]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; response to ionizing radiation [GO:0010212]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8NHY2-1; Sequence=Displayed; Name=2; Synonyms=delta24; IsoId=Q8NHY2-2; Sequence=VSP_012024, VSP_012025; Name=3; IsoId=Q8NHY2-3; Sequence=VSP_012026, VSP_012027; Note=No experimental confirmation available.; Name=4; Synonyms=COP1D; IsoId=Q8NHY2-4; Sequence=VSP_012025; Note=Unable to associate with other components of the CRL complex. Acts as a dominant-negative.; Name=5; Synonyms=E; IsoId=Q8NHY2-5; Sequence=VSP_055894, VSP_055895; 


uniprotID: Q9H0A8
geneSymbol: COMMD4
reactome: R-HSA-8951664;
name: COMM domain-containing protein 4
length: 199
go: ENSG00000140365;
opentargets: cytoplasm [GO:0005737]; nucleus [GO:0005634]
sequence:
MRFRFCGDLDCPDWVLAEISTLAKMSSVKLRLLCSQVLKELLGQGIDYEKILKLTADAKFESGDVKATVAVLSFILSSAAKHSVDGESLSSELQQLGLPKEHAASLCRCYEEKQSPLQKHLRVCSLRMNRLAGVGWRVDYTLSSSLLQSVEEPMVHLRLEVAAAPGTPAQPVAMSLSADKFQVLLAELKQAQTLMSSLG

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H0A8-1; Sequence=Displayed; Name=2; IsoId=Q9H0A8-2; Sequence=VSP_011394; Name=3; IsoId=Q9H0A8-3; Sequence=VSP_055664; Note=No experimental confirmation available. Gene prediction based on EST data.; 

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


uniprotID: P13073
geneSymbol: COX4I1
reactome: R-HSA-5628897;R-HSA-611105;
length: 169
go: ENSG00000131143;
drug: DB02659;DB04464;
snps: rs11557187
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane.
name:
Cytochrome c oxidase subunit 4 isoform 1, mitochondrial (Cytochrome c oxidase polypeptide IV) (Cytochrome c oxidase subunit IV isoform 1) (COX IV-1)

sequence:
MLATRVFSLVGKRAISTSVCVRAHESVVKSEDFSLPAYMDRRDHPLPEVAHVKHLSASQKALKEKEKASWSSLSMDEKVELYRIKFKESFAEMNRGSNEWKTVVGGAMFFIGFTALVIMWQKHYVYGPLPQSFDKEWVAKQTKRMLDMKVNPIQGLASKWDYEKNEWKK

opentargets:
membrane [GO:0016020]; mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex IV [GO:0005751]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; cytochrome-c oxidase activity [GO:0004129]; generation of precursor metabolites and energy [GO:0006091]; mitochondrial electron transport, cytochrome c to oxygen [GO:0006123]; response to nutrient [GO:0007584]


uniprotID: P20674
geneSymbol: COX5A
reactome: R-HSA-5628897;R-HSA-611105;
name: Cytochrome c oxidase subunit 5A, mitochondrial (Cytochrome c oxidase polypeptide Va)
length: 150
go: ENSG00000178741;
drug: DB02659;DB04464;
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane.
sequence:
MLGAALRRCAVAATTRADPRGLLHSARTPGPAVAIQSVRCYSHGSQETDEEFDARWVTYFNKPDIDAWELRKGINTLVTYDMVPEPKIIDAALRACRRLNDFASTVRILEVVKDKAGPHKEIYPYVIQELRPTLNELGISTPEELGLDKV

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex IV [GO:0005751]; cytochrome-c oxidase activity [GO:0004129]; electron transfer activity [GO:0009055]; metal ion binding [GO:0046872]; mitochondrial electron transport, cytochrome c to oxygen [GO:0006123]


uniprotID: P11511
geneSymbol: CYP19A1
reactome: R-HSA-193144;R-HSA-211976;R-HSA-5579030;
pdb: 1TQA;3EQM;3S79;3S7S;4GL5;4GL7;4KQ8;5JKV;5JKW;5JL6;5JL7;5JL9;
length: 503
go: ENSG00000137869;
snps: rs2236722 rs765057534 rs28757184 rs700519 rs2304462 rs80051519 rs121434536 rs121434534 rs78310315
location: SUBCELLULAR LOCATION: Membrane; Peripheral membrane protein.
name:
Aromatase (EC 1.14.14.14) (CYPXIX) (Cytochrome P-450AROM) (Cytochrome P450 19A1) (Estrogen synthase)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; membrane [GO:0016020]; aromatase activity [GO:0070330]; electron transfer activity [GO:0009055]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen [GO:0016712]; oxygen binding [GO:0019825]; steroid hydroxylase activity [GO:0008395]; androgen catabolic process [GO:0006710]; estrogen biosynthetic process [GO:0006703]; female genitalia development [GO:0030540]; female gonad development [GO:0008585]; mammary gland development [GO:0030879]; negative regulation of chronic inflammatory response [GO:0002677]; negative regulation of macrophage chemotaxis [GO:0010760]; positive regulation of estradiol secretion [GO:2000866]; prostate gland growth [GO:0060736]; steroid biosynthetic process [GO:0006694]; sterol metabolic process [GO:0016125]; testosterone biosynthetic process [GO:0061370]; uterus development [GO:0060065]

drug:
DB02342;DB00357;DB01217;DB05338;DB00443;DB04794;DB06719;DB00389;DB00269;DB00856;DB00882;DB00257;DB04839;DB01406;DB05804;DB01234;DB00255;DB02901;DB00917;DB00858;DB01127;DB00974;DB00292;DB00926;DB00990;DB01026;DB01006;DB01227;DB00367;DB00358;DB01065;DB00333;DB06710;DB01110;DB05749;DB08804;DB00984;DB00184;DB09389;DB01229;DB00481;DB05875;DB06147;DB00675;DB00857;DB00894;DB00624;DB01007;DB00072;DB00197;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P11511-1; Sequence=Displayed; Name=2; IsoId=P11511-2; Sequence=VSP_055583, VSP_055584; Note=No experimental confirmation available.; 


uniprotID: Q9BRF8
geneSymbol: CPPED1
reactome: R-HSA-6798695;
length: 314
go: ENSG00000103381;
snps: rs3748976 rs3748980 rs1713480 rs11645068
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23799035}.
name:
Serine/threonine-protein phosphatase CPPED1 (EC 3.1.3.16) (Calcineurin-like phosphoesterase domain-containing protein 1) (Complete S-transactivated protein 1)

sequence:

opentargets:
azurophil granule lumen [GO:0035578]; cytosol [GO:0005829]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]; metal ion binding [GO:0046872]; phosphoprotein phosphatase activity [GO:0004721]; neutrophil degranulation [GO:0043312]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BRF8-1; Sequence=Displayed; Name=2; IsoId=Q9BRF8-2; Sequence=VSP_031658; Note=No experimental confirmation available.; Name=3; IsoId=Q9BRF8-3; Sequence=VSP_055218, VSP_055219; Note=No experimental confirmation available.; 


uniprotID: Q9UNU6
geneSymbol: CYP8B1
reactome: R-HSA-193368;R-HSA-193775;R-HSA-193807;R-HSA-197264;R-HSA-211979;R-HSA-211994;R-HSA-2162123;
length: 501
go: ENSG00000180432;
snps: rs9865715 rs199955644 rs35764459 rs35637877
name:
7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase (EC 1.14.18.8) (7-alpha-hydroxy-4-cholesten-3-one 12-alpha-hydroxylase) (CYPVIIIB1) (Cytochrome P450 8B1) (Sterol 12-alpha-hydroxylase)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; organelle membrane [GO:0031090]; 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity [GO:0033778]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; oxygen binding [GO:0019825]; sterol 12-alpha-hydroxylase activity [GO:0008397]; bile acid biosynthetic process [GO:0006699]; sterol metabolic process [GO:0016125]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass membrane protein. Microsome membrane; Single-pass membrane protein.


uniprotID: P10589
geneSymbol: NR2F1
reactome: R-HSA-383280;
pdb: 2EBL;
length: 423
go: ENSG00000175745;
snps: rs587777277 rs587777275 rs587777274 rs587777276
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
COUP transcription factor 1 (COUP-TF1) (COUP transcription factor I) (COUP-TF I) (Nuclear receptor subfamily 2 group F member 1) (V-erbA-related protein 3) (EAR-3)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; nuclear receptor activity [GO:0004879]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; retinoic acid-responsive element binding [GO:0044323]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; steroid hormone receptor activity [GO:0003707]; transcription coactivator activity [GO:0003713]; zinc ion binding [GO:0008270]; negative regulation of neuron projection development [GO:0010977]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; signal transduction [GO:0007165]; transcription initiation from RNA polymerase II promoter [GO:0006367]


uniprotID: Q5HYK3
geneSymbol: COQ5
reactome: R-HSA-2142789;
length: 327
go: ENSG00000110871;
snps: rs3742049
name:
2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial (EC 2.1.1.201) (Ubiquinone biosynthesis methyltransferase COQ5)

sequence:

opentargets:
extrinsic component of mitochondrial inner membrane [GO:0031314]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; protein-containing complex [GO:0032991]; 2-decaprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity [GO:0043430]; 2-octaprenyl-6-methoxy-1,4-benzoquinone methylase activity [GO:0043333]; methylation [GO:0032259]; ubiquinone biosynthetic process [GO:0006744]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5HYK3-1; Sequence=Displayed; Name=2; IsoId=Q5HYK3-2; Sequence=VSP_017681, VSP_017682; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000255|HAMAP-Rule:MF_03191, ECO:0000269|PubMed:25152161}; Peripheral membrane protein {ECO:0000255|HAMAP-Rule:MF_03191, ECO:0000269|PubMed:25152161}; Matrix side {ECO:0000255|HAMAP-Rule:MF_03191, ECO:0000269|PubMed:25152161}.


uniprotID: P12107
geneSymbol: COL11A1
reactome: R-HSA-1442490;R-HSA-1650814;R-HSA-2022090;R-HSA-3000171;R-HSA-8874081;R-HSA-8948216;
name: Collagen alpha-1(XI) chain
length: 1806
go: ENSG00000060718;
snps: rs12025888 rs11164663 rs12143815 rs121912943 rs749663226 rs3753841 rs750014974 rs1676486 rs1975916
sequence:

opentargets:
collagen type XI trimer [GO:0005592]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extracellular matrix binding [GO:0050840]; extracellular matrix structural constituent [GO:0005201]; extracellular matrix structural constituent conferring tensile strength [GO:0030020]; heparan sulfate binding [GO:1904399]; heparin binding [GO:0008201]; metal ion binding [GO:0046872]; protein binding, bridging [GO:0030674]; cartilage condensation [GO:0001502]; chondrocyte development [GO:0002063]; collagen fibril organization [GO:0030199]; detection of mechanical stimulus involved in sensory perception of sound [GO:0050910]; embryonic skeletal system morphogenesis [GO:0048704]; endodermal cell differentiation [GO:0035987]; extracellular matrix organization [GO:0030198]; inner ear morphogenesis [GO:0042472]; ossification [GO:0001503]; proteoglycan metabolic process [GO:0006029]; sensory perception of sound [GO:0007605]; tendon development [GO:0035989]; ventricular cardiac muscle tissue morphogenesis [GO:0055010]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist. There is alternative usage of exon IIA or exon IIB. Transcripts containing exon IIA or IIB are present in cartilage, but exon IIB is preferentially utilized in transcripts from tendon.; Name=A; IsoId=P12107-1; Sequence=Displayed; Name=B; IsoId=P12107-2; Sequence=VSP_001145; Name=C; IsoId=P12107-3; Sequence=VSP_001146; Name=4; IsoId=P12107-4; Sequence=VSP_046318; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000255|PROSITE-ProRule:PRU00793}.


uniprotID: Q8N668
geneSymbol: COMMD1
reactome: R-HSA-8951664;
pdb: 2H2M;
name: COMM domain-containing protein 1 (Protein Murr1)
length: 190
go: ENSG00000173163;
sequence:
MAAGELEGGKPLSGLLNALAQDTFHGYPGITEELLRSQLYPEVPPEEFRPFLAKMRGILKSIASADMDFNQLEAFLTAQTKKQGGITSDQAAVISKFWKSHKTKIRESLMNQSRWNSGLRGLSWRVDGKSQSRHSAQIHTPVAIIELELGKYGQESEFLCLEFDEVKVNQILKTLSEVEESISTLISQPN

opentargets:
Cul2-RING ubiquitin ligase complex [GO:0031462]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; early endosome [GO:0005769]; endosome [GO:0005768]; endosome membrane [GO:0010008]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; recycling endosome [GO:0055037]; copper ion binding [GO:0005507]; identical protein binding [GO:0042802]; phosphatidic acid binding [GO:0070300]; phosphatidylinositol-3,4,5-trisphosphate binding [GO:0005547]; phosphatidylinositol-3,4-bisphosphate binding [GO:0043325]; phosphatidylinositol-3,5-bisphosphate binding [GO:0080025]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; protein homodimerization activity [GO:0042803]; copper ion homeostasis [GO:0055070]; Golgi to plasma membrane transport [GO:0006893]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of protein localization to cell surface [GO:2000009]; negative regulation of sodium ion transmembrane transport [GO:1902306]; plasma membrane to endosome transport [GO:0048227]; positive regulation of protein ubiquitination [GO:0031398]; post-translational protein modification [GO:0043687]; protein transport [GO:0015031]; regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032434]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N668-1; Sequence=Displayed; Name=2; IsoId=Q8N668-2; Sequence=VSP_055532; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21778237, ECO:0000269|PubMed:28604741}. Cytoplasm {ECO:0000269|PubMed:21778237}. Endosome membrane {ECO:0000269|PubMed:18940794}. Cytoplasmic vesicle {ECO:0000269|PubMed:18940794}. Early endosome {ECO:0000269|PubMed:21483833, ECO:0000269|PubMed:25355947}. Recycling endosome {ECO:0000269|PubMed:21483833, ECO:0000269|PubMed:21741370}. Note=Shuttles between nucleus and cytosol. Detected in perinuclear foci that may be aggresomes containing misfolded, ubiquitinated proteins.


uniprotID: P01037
geneSymbol: CST1
name: Cystatin-SN (Cystain-SA-I) (Cystatin-1) (Salivary cystatin-SA-1)
length: 141
go: ENSG00000170373;
snps: rs6076122 rs2070856 rs3188319 rs3188320 rs3188322
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:20189825}.
sequence:
MAQYLSTLLLLLATLAVALAWSPKEEDRIIPGGIYNADLNDEWVQRALHFAISEYNKATKDDYYRRPLRVLRARQQTVGGVNYFFDVEVGRTICTKSQPNLDTCAFHEQPELQKKQLCSFEIYEVPWENRRSLVKSRCQES

opentargets:
extracellular space [GO:0005615]; cysteine-type endopeptidase inhibitor activity [GO:0004869]; detection of chemical stimulus involved in sensory perception of bitter taste [GO:0001580]


uniprotID: A0PJW8
geneSymbol: DAPL1
name: Death-associated protein-like 1 (Early epithelial differentiation-associated protein)
length: 107
go: ENSG00000163331;
snps: rs9869 rs12535
sequence:
MANEVQDLLSPRKGGHPPAVKAGGMRISKKQEIGTLERHTKKTGFEKTSAIANVAKIQTLDALNDALEKLNYKFPATVHMAHQKPTPALEKVVPLKRIYIIQQPRKC

opentargets:
death domain binding [GO:0070513]; apoptotic signaling pathway [GO:0097190]; cell differentiation [GO:0030154]; cellular response to amino acid starvation [GO:0034198]; negative regulation of autophagy [GO:0010507]


uniprotID: Q30KR1
geneSymbol: DEFB109B
reactome: R-HSA-1461957;
name: Putative beta-defensin 109B (Defensin, beta 109, pseudogene 1B) (Defensin, beta 109B)
sequence: MRLHLLLLILLLFSILLSPVRGGLGPAEGHCLNLFGVCRTDVCNIVEDQIGACRRRMKCCRAWWILMPIPTPLIMSDYQEPLKPNLK
length: 87
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
opentargets:
extracellular space [GO:0005615]; CCR6 chemokine receptor binding [GO:0031731]; chemoattractant activity [GO:0042056]; cell chemotaxis [GO:0060326]; chemotaxis [GO:0006935]; defense response to bacterium [GO:0042742]


uniprotID: Q8N8Z6
geneSymbol: DCBLD1
name: Discoidin, CUB and LCCL domain-containing protein 1
length: 715
go: ENSG00000164465;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N8Z6-1; Sequence=Displayed; Name=2; IsoId=Q8N8Z6-2; Sequence=VSP_040221, VSP_040222; 


uniprotID: Q9NXF7
geneSymbol: DCAF16
reactome: R-HSA-8951664;
name: DDB1- and CUL4-associated factor 16
length: 216
go: ENSG00000163257;
snps: rs34085539 rs7690457
sequence:

opentargets:
Cul4-RING E3 ubiquitin ligase complex [GO:0080008]; nucleoplasm [GO:0005654]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]


uniprotID: A2VCK2
geneSymbol: DCDC2B
name: Doublecortin domain-containing protein 2B
length: 349
go: ENSG00000222046;
sequence:

opentargets:
microtubule [GO:0005874]; microtubule organizing center [GO:0005815]; intracellular signal transduction [GO:0035556]


uniprotID: A8MYV0
geneSymbol: DCDC2C
name: Doublecortin domain-containing protein 2C
length: 355
sequence:

opentargets:
cytoplasm [GO:0005737]; microtubule [GO:0005874]; microtubule organizing center [GO:0005815]; sperm flagellum [GO:0036126]; intracellular signal transduction [GO:0035556]

location:
SUBCELLULAR LOCATION: Cell projection, cilium, flagellum {ECO:0000269|PubMed:28395323}. Cytoplasm {ECO:0000269|PubMed:28395323}. Note=Detected along the length of the sperm flagellum and in the cytoplasm of the germ cells. {ECO:0000269|PubMed:28395323}.


uniprotID: P59894
geneSymbol: DCDC1
name: Doublecortin domain-containing protein 1
length: 354
go: ENSG00000170959;
opentargets: intracellular [GO:0005622]; intracellular signal transduction [GO:0035556]
snps: rs11031357 rs2761591
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P59894-1; Sequence=Displayed; Name=2; IsoId=P59894-2; Sequence=VSP_056951, VSP_056952; Note=No experimental confirmation available.; 


uniprotID: Q9H295
geneSymbol: DCSTAMP
reactome: R-HSA-8874211;
length: 470
go: ENSG00000164935;
snps: rs3802204
name:
Dendritic cell-specific transmembrane protein (DC-STAMP) (hDC-STAMP) (Dendrocyte-expressed seven transmembrane protein) (IL-four-induced protein) (FIND) (Transmembrane 7 superfamily member 4)

sequence:

opentargets:
cell surface [GO:0009986]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; endosome membrane [GO:0010008]; integral component of endoplasmic reticulum membrane [GO:0030176]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; cellular response to interleukin-4 [GO:0071353]; cellular response to macrophage colony-stimulating factor stimulus [GO:0036006]; cellular response to tumor necrosis factor [GO:0071356]; membrane fusion [GO:0061025]; myeloid dendritic cell differentiation [GO:0043011]; negative regulation of cell growth [GO:0030308]; osteoclast differentiation [GO:0030316]; osteoclast fusion [GO:0072675]; positive regulation of bone resorption [GO:0045780]; positive regulation of macrophage fusion [GO:0034241]; positive regulation of monocyte differentiation [GO:0045657]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H295-1; Sequence=Displayed; Name=2; IsoId=Q9H295-2; Sequence=VSP_044787, VSP_044788; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Endoplasmic reticulum membrane; Multi-pass membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Endosome {ECO:0000250}. Note=Localizes to the cell surface in osteoclasts and undifferentiated monocytes. Intracellular internalized DCSTAMP is detected in a fraction of RANKL-induced osteoclast precursor. Colocalizes with OS9 in the endoplasmic reticulum (ER) of immature dendritic cell (DC). Translocates from the endoplasmic reticulum to the intermediate/Golgi compartment upon maturation of DC in a OS9-dependent manner. Colocalizes with LAMP1 in endosomes (By similarity). {ECO:0000250}.


uniprotID: Q6PJP8
geneSymbol: DCLRE1A
reactome: R-HSA-6783310;
name: DNA cross-link repair 1A protein (SNM1 homolog A) (hSNM1) (hSNM1A)
length: 1040
go: ENSG00000198924;
snps: rs17235066 rs17228665 rs17228672 rs17235094 rs3750898 rs17855759 rs11196530
pdb:
4B87;5AHR;5NZW;5NZX;5NZY;5Q1J;5Q1K;5Q1L;5Q1M;5Q1N;5Q1O;5Q1P;5Q1Q;5Q1R;5Q1S;5Q1T;5Q1U;5Q1V;5Q1W;5Q1X;5Q1Y;5Q1Z;5Q20;5Q22;5Q23;5Q24;5Q25;5Q26;5Q27;5Q28;5Q29;5Q2A;5Q2B;5Q2C;5Q2D;5Q2E;5Q2F;5Q2G;5Q2H;5Q2I;5Q2J;5Q2K;5Q2L;5Q2M;5Q2N;5Q2O;5Q2P;5Q2Q;5Q2R;5Q2S;5Q2T;5Q2U;5Q2V;5Q2W;5Q2X;5Q2Y;5Q2Z;5Q30;5Q31;5Q32;5Q33;5Q34;5Q35;5Q36;5Q37;5Q38;5Q39;5Q3A;5Q3B;5Q3C;5Q3D;5Q3E;5Q3F;5Q3G;5Q3H;5Q3I;5Q3J;5Q3K;5Q3L;5Q3M;5Q3N;5Q3O;5Q3P;5Q3Q;5Q3R;5Q3S;5Q3T;5Q3U;5Q3V;5Q3W;5Q3X;5Q3Y;5Q3Z;5Q40;5Q41;5Q42;5Q43;5Q44;5Q45;5Q46;5Q47;5Q48;5Q49;5Q4A;5Q4B;5Q4C;5Q4D;5Q4E;5Q4F;5Q4G;5Q4H;5Q4I;5Q4J;5Q4K;5Q4L;5Q4M;5Q4N;5Q4O;5Q4P;5Q4Q;5Q4R;5Q4S;5Q4T;5Q4U;5Q4V;5Q4W;5Q4X;5Q4Y;5Q4Z;5Q50;5Q51;5Q52;5Q53;5Q54;5Q55;5Q56;5Q57;5Q58;5Q59;5Q5A;5Q5B;5Q5C;5Q5D;5Q5E;5Q5F;5Q5G;5Q5H;5Q5I;5Q5J;5Q5K;5Q5L;5Q5M;5Q5N;5Q5O;5Q5P;5Q5Q;5Q5R;5Q5S;5Q5T;5Q5U;5Q5V;5Q5W;5Q5X;5Q5Y;5Q5Z;5Q60;5Q61;5Q62;5Q63;5Q64;5Q65;5Q66;5Q67;5Q68;5Q69;5Q6A;5Q6B;5Q6C;5Q6D;5Q6E;5Q6F;5Q6G;5Q6H;5Q6I;5Q6J;5Q6K;5Q6L;5Q6M;5Q6N;5Q6O;5Q6P;5Q6Q;5Q6R;5Q6S;5Q6T;5Q6U;5Q6V;5Q6W;5Q6X;5Q6Y;5Q6Z;5Q70;5Q71;5Q72;5Q73;5Q74;5Q75;5Q76;5Q77;5Q78;5Q79;5Q7A;5Q7B;5Q7C;5Q7D;5Q7E;5Q7F;5Q7G;5Q7H;5Q7I;5Q7J;5Q7K;5Q7L;5Q7M;5Q7N;5Q7O;5Q7P;5Q7Q;5Q7R;5Q7S;5Q7T;5Q7U;5Q7V;5Q7W;5Q7X;5Q7Y;5Q7Z;5Q80;5Q81;5Q82;5Q83;5Q84;5Q85;5Q86;5Q87;5Q88;5Q89;5Q8A;5Q8B;5Q8C;5Q8D;5Q8E;5Q8F;5Q8G;5Q8H;5Q8I;5Q8J;5Q8K;5Q8L;5Q8M;5Q8N;5Q8O;5Q8P;5Q8Q;5Q8R;5Q8S;5Q8T;5Q8U;5Q8V;5Q8W;5Q8X;5Q8Y;5Q8Z;5Q90;5Q91;5Q92;5Q93;5Q94;5Q95;5Q96;5Q97;5Q98;5Q99;5Q9A;5Q9B;5Q9C;5Q9D;5Q9E;5Q9F;5Q9G;5Q9H;5Q9I;5Q9J;5Q9K;5Q9L;5Q9M;5Q9N;5Q9O;5Q9P;5Q9Q;5Q9R;5Q9S;5Q9T;5Q9U;5Q9V;5Q9W;5Q9X;5Q9Y;5Q9Z;5QA0;5QA1;5QA2;

sequence:

opentargets:
fibrillar center [GO:0001650]; nuclear chromosome, telomeric region [GO:0000784]; nucleoplasm [GO:0005654]; 5'-3' exodeoxyribonuclease activity [GO:0035312]; damaged DNA binding [GO:0003684]; cell cycle [GO:0007049]; cell division [GO:0051301]; double-strand break repair via nonhomologous end joining [GO:0006303]; interstrand cross-link repair [GO:0036297]; protection from non-homologous end joining at telomere [GO:0031848]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10848582, ECO:0000269|PubMed:12446782, ECO:0000269|PubMed:15572677}. Note=In some cells it may be found in typically 1 or 2 discrete nuclear aggregates of unknown function which also contain TP53BP1. Also found in multiple discrete nuclear foci which increase in number following treatment with ionizing radiation or interstrand cross-linking agents. These foci overlap with those formed by the MRN complex (composed of MRE11, RAD50 and NBN) and BRCA1.


uniprotID: Q14677
geneSymbol: CLINT1
reactome: R-HSA-432722;
pdb: 1XGW;2QY7;2V8S;
length: 625
go: ENSG00000113282;
name:
Clathrin interactor 1 (Clathrin-interacting protein localized in the trans-Golgi region) (Clint) (Enthoprotin) (Epsin-4) (Epsin-related protein) (EpsinR)

sequence:

opentargets:
clathrin-coated vesicle [GO:0030136]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; perinuclear region of cytoplasm [GO:0048471]; cadherin binding [GO:0045296]; clathrin binding [GO:0030276]; lipid binding [GO:0008289]; clathrin coat assembly [GO:0048268]; endocytosis [GO:0006897]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q14677-1; Sequence=Displayed; Name=2; IsoId=Q14677-2; Sequence=VSP_009160, VSP_009161; Name=3; IsoId=Q14677-3; Sequence=VSP_043302; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, perinuclear region. Membrane; Peripheral membrane protein. Cytoplasmic vesicle, clathrin-coated vesicle. Note=Found throughout the cell, with the exception of the cell surface. Concentrated in the perinuclear region and associated with clathrin-coated vesicles close to the trans-Golgi network.


uniprotID: Q5HYR2
geneSymbol: DMRTC1; DMRTC1B
name: Doublesex- and mab-3-related transcription factor C1
length: 192
sequence:
MAAPPKAPIRVRNLTIRAGALTGKENNMLQPETHIFTAPEEGSSQGALLLGQAPEPLSLPCTPVTLEQQLVSPSGDPHRAPALPSICSTLILQPCATLDPLLLQPQVPKVSDQALVSAHSEWQRKLEAAEALLTLRNSAQAPPDSISLHQPCNPPAPAGDKGFQPPSPSLRPRPASSISLPIGHLGCISLLS

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein homodimerization activity [GO:0042803]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5HYR2-1; Sequence=Displayed; Name=2; IsoId=Q5HYR2-2; Sequence=VSP_019519; Note=No experimental confirmation available.; 


uniprotID: Q6PK57
geneSymbol: DNM1P34
name: Putative GED domain-containing protein DNM1P34 (DNM1 pseudogene 34)
length: 102
sequence:
MPSCSPQQASKAEENGSNSFMHSMVPQLEWQMETTQSLVDSYVAIVNKTVWDLMVGLTPKTIMHLMINNNKEFIFSELLANLYLHGDKNMLMEESAEQAQRS

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; mitochondrial membrane [GO:0031966]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; microtubule binding [GO:0008017]; apoptotic mitochondrial changes [GO:0008637]; clathrin-dependent endocytosis [GO:0072583]; dynamin family protein polymerization involved in mitochondrial fission [GO:0003374]; intracellular distribution of mitochondria [GO:0048312]; membrane fusion [GO:0061025]; mitochondrial fission [GO:0000266]; mitochondrial fragmentation involved in apoptotic process [GO:0043653]; regulation of autophagy of mitochondrion [GO:1903146]; regulation of mitochondrion organization [GO:0010821]


uniprotID: Q96GE9
geneSymbol: DMAC1
name: Distal membrane-arm assembly complex protein 1 (Transmembrane protein 261)
length: 116
go: ENSG00000137038;
snps: rs1127430
sequence:
MGSRLSQPFESYITAPPGTAAAPAKPAPPATPGAPTSPAEHRLLKTCWSCRVLSGLGLMGAGGYVYWVARKPMKMGYPPSPWTITQMVIGLSENQGIATWGIVVMADPKGKAYRVV

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex I assembly [GO:0032981]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96GE9-1; Sequence=Displayed; Name=2; IsoId=Q96GE9-2; Sequence=VSP_014455; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:27626371}; Multi-pass membrane protein {ECO:0000305}.


uniprotID: P51530
geneSymbol: DNA2
pdb: 5EAY;
length: 1060
go: ENSG00000138346;
snps: rs1272393477 rs760412883 rs746522359
reactome:
R-HSA-174437;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-69166;R-HSA-69473;

name:
DNA replication ATP-dependent helicase/nuclease DNA2 (hDNA2) (DNA replication ATP-dependent helicase-like homolog) [Includes: DNA replication nuclease DNA2 (EC 3.1.-.-); DNA replication ATP-dependent helicase DNA2 (EC 3.6.4.12)]

sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrial nucleoid [GO:0042645]; mitochondrion [GO:0005739]; nuclear chromosome, telomeric region [GO:0000784]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; 4 iron, 4 sulfur cluster binding [GO:0051539]; 5'-3' DNA helicase activity [GO:0043139]; 5'-flap endonuclease activity [GO:0017108]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; DNA binding [GO:0003677]; DNA helicase activity [GO:0003678]; helicase activity [GO:0004386]; metal ion binding [GO:0046872]; nuclease activity [GO:0004518]; single-stranded DNA-dependent ATPase activity [GO:0043142]; site-specific endodeoxyribonuclease activity, specific for altered base [GO:0016890]; base-excision repair [GO:0006284]; DNA double-strand break processing [GO:0000729]; DNA replication [GO:0006260]; DNA replication checkpoint [GO:0000076]; DNA replication, Okazaki fragment processing [GO:0033567]; DNA replication, removal of RNA primer [GO:0043137]; G-quadruplex DNA unwinding [GO:0044806]; mitochondrial DNA repair [GO:0043504]; mitochondrial DNA replication [GO:0006264]; mitotic telomere maintenance via semi-conservative replication [GO:1902990]; nucleic acid phosphodiester bond hydrolysis [GO:0090305]; positive regulation of DNA replication [GO:0045740]; replication fork reversal [GO:0071932]; t-circle formation [GO:0090656]; telomere maintenance [GO:0000723]; telomere maintenance via semi-conservative replication [GO:0032201]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P51530-1; Sequence=Displayed; Name=2; IsoId=P51530-2; Sequence=VSP_021870, VSP_021871; Note=No experimental confirmation available.; Name=3; IsoId=P51530-3; Sequence=VSP_021869; Note=No experimental confirmation available.; Name=4; IsoId=P51530-4; Sequence=VSP_044185; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Mitochondrion. Note=Was initially reported to be exclusively mitochondrial (PubMed:18995831). However, it was later shown to localize both in mitochondrion and nucleus (PubMed:19487465). {ECO:0000269|PubMed:18995831, ECO:0000269|PubMed:19487465}.


uniprotID: Q6E0U4
geneSymbol: DMKN
pdb: 4F20;
name: Dermokine (Epidermis-specific secreted protein SK30/SK89)
length: 476
go: ENSG00000161249;
opentargets: extracellular space [GO:0005615]; cornified envelope assembly [GO:1903575]
snps: rs12460932 rs4806163 rs7247001 rs11667007 rs2293696 rs909072
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:15234001}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=16;  Name=1; Synonyms=Dermokine beta; IsoId=Q6E0U4-1; Sequence=Displayed; Name=2; Synonyms=Dermokine beta-2; IsoId=Q6E0U4-2; Sequence=VSP_033093; Name=3; Synonyms=Dermokine-gamma 1, Dermokine gamma-2; IsoId=Q6E0U4-3; Sequence=VSP_033103, VSP_033104; Name=4; Synonyms=Dermokine beta-1; IsoId=Q6E0U4-4; Sequence=VSP_033094, VSP_033100, VSP_033106; Name=5; Synonyms=Dermokine gamma-2; IsoId=Q6E0U4-5; Sequence=VSP_033101, VSP_033103, VSP_033104; Name=6; IsoId=Q6E0U4-6; Sequence=VSP_033102; Note=No experimental confirmation available.; Name=7; Synonyms=Dermokine gamma-1; IsoId=Q6E0U4-7; Sequence=VSP_033098, VSP_033103, VSP_033104; Name=8; Synonyms=Dermokine delta; IsoId=Q6E0U4-8; Sequence=VSP_033092, VSP_033095; Name=9; Synonyms=Dermokine-delta-4; IsoId=Q6E0U4-9; Sequence=VSP_033091, VSP_033096; Name=10; Synonyms=Dermokine-delta-1; IsoId=Q6E0U4-10; Sequence=VSP_033090, VSP_033097; Name=11; Synonyms=Dermokine-delta-3; IsoId=Q6E0U4-11; Sequence=VSP_033089, VSP_033099; Name=12; Synonyms=Dermokine-delta-2; IsoId=Q6E0U4-12; Sequence=VSP_033089, VSP_033099, VSP_033106; Name=13; Synonyms=Dermokine-delta-6; IsoId=Q6E0U4-13; Sequence=VSP_033088; Name=14; Synonyms=Dermokine-delta-5; IsoId=Q6E0U4-14; Sequence=VSP_033088, VSP_033106; Name=15; Synonyms=Dermokine-alpha; IsoId=Q6E0U4-15; Sequence=VSP_033087, VSP_033105; Name=16; IsoId=Q6E0U4-16; Sequence=VSP_033094, VSP_047249; Note=No experimental confirmation available.; 


uniprotID: Q96RT1
geneSymbol: ERBIN
reactome: R-HSA-1227986;R-HSA-8863795;
pdb: 1MFG;1MFL;1N7T;2H3L;2QBW;3CH8;
name: Erbin (Densin-180-like protein) (Erbb2-interacting protein) (Protein LAP2)
length: 1412
go: ENSG00000112851;
snps: rs3213837 rs191137999 rs16894812 rs34521887 rs35601230 rs3805466
sequence:

opentargets:
basal plasma membrane [GO:0009925]; basement membrane [GO:0005604]; basolateral plasma membrane [GO:0016323]; cell junction [GO:0030054]; cytoplasm [GO:0005737]; glutamatergic synapse [GO:0098978]; hemidesmosome [GO:0030056]; nuclear membrane [GO:0031965]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; postsynapse [GO:0098794]; ErbB-2 class receptor binding [GO:0005176]; signaling receptor binding [GO:0005102]; structural constituent of cytoskeleton [GO:0005200]; basal protein localization [GO:0045175]; cell adhesion [GO:0007155]; cellular response to tumor necrosis factor [GO:0071356]; epidermal growth factor receptor signaling pathway [GO:0007173]; ERBB2 signaling pathway [GO:0038128]; establishment or maintenance of epithelial cell apical/basal polarity [GO:0045197]; integrin-mediated signaling pathway [GO:0007229]; intermediate filament cytoskeleton organization [GO:0045104]; negative regulation of monocyte chemotactic protein-1 production [GO:0071638]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway [GO:0070433]; protein targeting [GO:0006605]; regulation of postsynaptic membrane neurotransmitter receptor levels [GO:0099072]; response to lipopolysaccharide [GO:0032496]; response to muramyl dipeptide [GO:0032495]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Name=1; IsoId=Q96RT1-1; Sequence=Displayed; Name=2; IsoId=Q96RT1-2; Sequence=VSP_010802; Name=3; IsoId=Q96RT1-3; Sequence=VSP_010802, VSP_010804; Name=4; IsoId=Q96RT1-4; Sequence=VSP_010802, VSP_010807; Name=5; IsoId=Q96RT1-5; Sequence=VSP_010802, VSP_010803; Name=6; IsoId=Q96RT1-6; Sequence=VSP_010802, VSP_010806; Name=7; IsoId=Q96RT1-7; Sequence=VSP_010802, VSP_010803, VSP_010804, VSP_010805; Name=8; IsoId=Q96RT1-8; Sequence=VSP_044536; Note=No experimental confirmation available.; Name=9; IsoId=Q96RT1-9; Sequence=VSP_047389, VSP_010802; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell junction, hemidesmosome {ECO:0000269|PubMed:10878805, ECO:0000269|PubMed:11375975}. Nucleus membrane {ECO:0000250}. Basolateral cell membrane {ECO:0000269|PubMed:16203728}. Note=Found in hemidesmosomes, which are cell-substrate adhesion complexes in stratified epithelia. In transfected cells, either diffusely distributed over the cytoplasm or concentrated at the basolateral membrane. Colocalizes with the adrenergic receptors, ADREN1A and ADREN1B, at the nuclear membrane of cardiac myocytes (By similarity). {ECO:0000250}.


uniprotID: O60884
geneSymbol: DNAJA2
reactome: R-HSA-3371497;
length: 412
go: ENSG00000069345;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}.
name:
DnaJ homolog subfamily A member 2 (Cell cycle progression restoration gene 3 protein) (Dnj3) (Dj3) (HIRA-interacting protein 4) (Renal carcinoma antigen NY-REN-14)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; ATP binding [GO:0005524]; ATPase activator activity [GO:0001671]; chaperone binding [GO:0051087]; heat shock protein binding [GO:0031072]; metal ion binding [GO:0046872]; unfolded protein binding [GO:0051082]; positive regulation of cell proliferation [GO:0008284]; protein refolding [GO:0042026]; response to heat [GO:0009408]


uniprotID: Q9NNZ3
geneSymbol: DNAJC4
length: 241
go: ENSG00000110011;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
name:
DnaJ homolog subfamily C member 4 (DnaJ-like protein HSPF2) (Multiple endocrine neoplasia type 1 candidate protein number 18)

sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; unfolded protein binding [GO:0051082]; protein folding [GO:0006457]; response to unfolded protein [GO:0006986]


uniprotID: Q8WWF6
geneSymbol: DNAJB3
pdb: 2EJ7;
name: DnaJ homolog subfamily B member 3
length: 145
snps: rs34622615 rs34150486
sequence:
MVDYYEVLDVPRQASSEAIKKAYRKLALKWHPDKNPENKEEAERRFKQVAEAYEVLSDAKKRDIYDRYGEAGAEGGCTGGRPFEDPFEYVFSFRDPADVFREFFGGQDPFSFDLLGNPLENILGGSEELLGKQKQSVCTPFLCLQ


uniprotID: O75937
geneSymbol: DNAJC8
reactome: R-HSA-72163;
name: DnaJ homolog subfamily C member 8 (Splicing protein spf31)
length: 253
go: ENSG00000126698;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:27133716}.
sequence:

opentargets:
cytosol [GO:0005829]; intercellular bridge [GO:0045171]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; Hsp70 protein binding [GO:0030544]; mRNA splicing, via spliceosome [GO:0000398]


uniprotID: P49916
geneSymbol: LIG3
reactome: R-HSA-110381;R-HSA-5649702;R-HSA-5685939;R-HSA-5696397;R-HSA-6782210;
pdb: 1IMO;1IN1;1UW0;3L2P;3PC7;3PC8;3QVG;
name: DNA ligase 3 (EC 6.5.1.1) (DNA ligase III) (Polydeoxyribonucleotide synthase [ATP] 3)
length: 1009
go: ENSG00000005156;
drug: DB00290;
snps: rs3744356 rs757797167 rs200981995 rs3136025 rs4986974 rs4986973
sequence:

opentargets:
cytoplasm [GO:0005737]; DNA ligase III-XRCC1 complex [GO:0070421]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; DNA ligase (ATP) activity [GO:0003910]; DNA ligase activity [GO:0003909]; zinc ion binding [GO:0008270]; base-excision repair, DNA ligation [GO:0006288]; cell cycle [GO:0007049]; cell division [GO:0051301]; DNA biosynthetic process [GO:0071897]; DNA ligation [GO:0006266]; double-strand break repair [GO:0006302]; double-strand break repair via alternative nonhomologous end joining [GO:0097681]; double-strand break repair via homologous recombination [GO:0000724]; lagging strand elongation [GO:0006273]; mitochondrial DNA repair [GO:0043504]; mitochondrion organization [GO:0007005]; negative regulation of mitochondrial DNA replication [GO:0090298]; nucleotide-excision repair, DNA gap filling [GO:0006297]; transcription-coupled nucleotide-excision repair [GO:0006283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=4;  Name=1; IsoId=P49916-1; Sequence=Displayed; Note=Produced by alternative splicing.; Name=2; IsoId=P49916-2; Sequence=VSP_001302; Note=Produced by alternative splicing.; Name=3; Synonyms=Alpha; IsoId=P49916-3; Sequence=VSP_057464; Note=Produced by alternative initiation of isoform 1.; Name=4; Synonyms=Beta; IsoId=P49916-4; Sequence=VSP_057464, VSP_001302; Note=Produced by alternative initiation of isoform 2.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Mitochondrion {ECO:0000269|PubMed:10207110, ECO:0000269|PubMed:24674627}. Note=Contains an N-terminal mitochondrial transit peptide. {ECO:0000269|PubMed:10207110}.; SUBCELLULAR LOCATION: Isoform 2: Mitochondrion {ECO:0000305|PubMed:10207110}. Note=Contains an N-terminal mitochondrial transit peptide. {ECO:0000305|PubMed:10207110}.; SUBCELLULAR LOCATION: Isoform 3: Nucleus {ECO:0000269|PubMed:10207110}. Note=Lacks the N-terminal mitochondrial transit peptide. {ECO:0000269|PubMed:10207110}.; SUBCELLULAR LOCATION: Isoform 4: Nucleus {ECO:0000305|PubMed:10207110}. Note=Lacks the N-terminal mitochondrial transit peptide. {ECO:0000305|PubMed:10207110}.


uniprotID: O75190
geneSymbol: DNAJB6
reactome: R-HSA-3371453;
name: DnaJ homolog subfamily B member 6 (HHDJ1) (Heat shock protein J2) (HSJ-2) (MRJ) (MSJ-1)
length: 326
go: ENSG00000105993;
snps: rs387907150 rs387907046 rs387907047
sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; Z disc [GO:0030018]; ATPase activator activity [GO:0001671]; chaperone binding [GO:0051087]; DNA binding [GO:0003677]; heat shock protein binding [GO:0031072]; identical protein binding [GO:0042802]; unfolded protein binding [GO:0051082]; actin cytoskeleton organization [GO:0030036]; chorio-allantoic fusion [GO:0060710]; chorion development [GO:0060717]; extracellular matrix organization [GO:0030198]; intermediate filament organization [GO:0045109]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of inclusion body assembly [GO:0090084]; negative regulation of transcription, DNA-templated [GO:0045892]; protein folding [GO:0006457]; protein localization to nucleus [GO:0034504]; regulation of cellular response to heat [GO:1900034]; regulation of protein localization [GO:0032880]; syncytiotrophoblast cell differentiation involved in labyrinthine layer development [GO:0060715]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=A; IsoId=O75190-1; Sequence=Displayed; Name=B; IsoId=O75190-2; Sequence=VSP_001289, VSP_001290; Name=C; Synonyms=a; IsoId=O75190-3; Sequence=VSP_026180; Note=No experimental confirmation available.; Name=D; IsoId=O75190-4; Sequence=VSP_053894; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000269|PubMed:10954706}. Nucleus {ECO:0000269|PubMed:10954706}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed:22366786}.


uniprotID: P48449
geneSymbol: LSS
reactome: R-HSA-191273;R-HSA-2426168;
pdb: 1W6J;1W6K;
length: 732
go: ENSG00000160285;
drug: DB03696;DB02016;
snps: rs2839158 rs34115287 rs864622780 rs561449819 rs35785446 rs2254524 rs17293705
name:
Lanosterol synthase (EC 5.4.99.7) (2,3-epoxysqualene--lanosterol cyclase) (Oxidosqualene--lanosterol cyclase) (OSC) (hOSC)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; lipid droplet [GO:0005811]; membrane [GO:0016020]; lanosterol synthase activity [GO:0000250]; cholesterol biosynthetic process [GO:0006695]; regulation of cholesterol biosynthetic process [GO:0045540]; regulation of protein stability [GO:0031647]; steroid biosynthetic process [GO:0006694]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P48449-1; Sequence=Displayed; Name=2; IsoId=P48449-2; Sequence=VSP_045407; Note=No experimental confirmation available.; Name=3; IsoId=P48449-3; Sequence=VSP_046188; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:14766201, ECO:0000269|PubMed:15525992}; Peripheral membrane protein {ECO:0000269|PubMed:14766201, ECO:0000269|PubMed:15525992}.


uniprotID: P11308
geneSymbol: ERG
pdb: 1SXE;4IRG;4IRH;4IRI;5YBC;
name: Transcriptional regulator ERG (Transforming protein ERG)
length: 486
go: ENSG00000157554;
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; 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 polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; cell differentiation [GO:0030154]; cell proliferation [GO:0008283]; multicellular organism development [GO:0007275]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein phosphorylation [GO:0006468]; regulation of transcription by RNA polymerase II [GO:0006357]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=ERG-3; IsoId=P11308-3; Sequence=Displayed; Name=ERG-2; IsoId=P11308-1; Sequence=VSP_026579; Name=ERG-1; IsoId=P11308-2; Sequence=VSP_001469, VSP_026579; Name=5; IsoId=P11308-4; Sequence=VSP_026584; Name=7; IsoId=P11308-5; Sequence=VSP_026582, VSP_026583; Name=8; IsoId=P11308-6; Sequence=VSP_026580, VSP_026581; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00237, ECO:0000269|PubMed:17289661}. Cytoplasm {ECO:0000269|PubMed:17289661}. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs.


uniprotID: P84090
geneSymbol: ERH
pdb: 1W9G;2NML;
name: Enhancer of rudimentary homolog
length: 104
go: ENSG00000100632;
sequence:
MSHTILLVQPTKRPEGRTYADYESVNECMEGVCKMYEEHLKRMNPNSPSITYDISQLFDFIDDLADLSCLVYRADTQTYQPYNKDWIKEKIYVLLRRQAQQAGK

opentargets:
methylosome [GO:0034709]; midbody [GO:0030496]; methyl-CpG binding [GO:0008327]; RNA binding [GO:0003723]; cell cycle [GO:0007049]; nucleobase-containing compound metabolic process [GO:0006139]; positive regulation of Notch signaling pathway [GO:0045747]; pyrimidine nucleoside metabolic process [GO:0006213]; pyrimidine nucleotide biosynthetic process [GO:0006221]


uniprotID: A1L162
geneSymbol: ERICH2
name: Glutamate-rich protein 2
length: 156
go: ENSG00000204334;
sequence:
METVNEPETGEVSKDAVIVKQEKNNEYCLQDIDDKLSESAEDDGEDDTNDEDDDEDSNPKKNTQAPLELMAEFLRAEMAREYQLAKKLCQMILIYEPENPEAKEFFTLIEEMLLMEKTQNHEQDGENSDEDSSGESKGESDEELSDESSDEGEDGS


uniprotID: Q7L8W6
geneSymbol: DPH6
reactome: R-HSA-5358493;
length: 267
go: ENSG00000134146;
snps: rs34907758 rs10519996
name:
Diphthine--ammonia ligase (EC 6.3.1.14) (ATP-binding domain-containing protein 4) (Diphthamide synthase) (Diphthamide synthetase) (Protein DPH6 homolog)

sequence:

opentargets:
cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleus [GO:0005634]; ATP binding [GO:0005524]; diphthine-ammonia ligase activity [GO:0017178]; peptidyl-diphthamide biosynthetic process from peptidyl-histidine [GO:0017183]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7L8W6-1; Sequence=Displayed; Name=2; IsoId=Q7L8W6-2; Sequence=VSP_042933; Note=No experimental confirmation available.; 


uniprotID: Q86SG4
geneSymbol: HMGN2P46
length: 172
snps: rs8042811
name:
Putative Dresden prostate carcinoma protein 2 (D-PCa-2) (High mobility group nucleosome-binding domain-containing protein 2 pseudogene 46)

sequence:
MEPWAMRALDFADESGSVSCKDMHLLLWLQKRIEMHKAEQCEEEEAMTPRPTKARAPLPSAYVPPLSLPPCPRERLKGMLKEIKPRLSRNCREDPQGCLLNLLLQSHSRSPERPLQRRERRYLQRRREKLMLARRGITLQKMEMPKQTRHRKLKVLEMPSEVCAFLITVYFW

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86SG4-1; Sequence=Displayed; Name=2; IsoId=Q86SG4-2; Sequence=VSP_014625; Name=3; IsoId=Q86SG4-3; Sequence=VSP_014624; 


uniprotID: P54098
geneSymbol: POLG
pdb: 3IKM;4ZTU;4ZTZ;5C51;5C52;5C53;
length: 1239
go: ENSG00000140521;
name:
DNA polymerase subunit gamma-1 (EC 2.7.7.7) (Mitochondrial DNA polymerase catalytic subunit) (PolG-alpha)

sequence:

opentargets:
gamma DNA polymerase complex [GO:0005760]; mitochondrial nucleoid [GO:0042645]; mitochondrion [GO:0005739]; protein-containing complex [GO:0032991]; terminal bouton [GO:0043195]; 3'-5' exonuclease activity [GO:0008408]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA-directed DNA polymerase activity [GO:0003887]; protease binding [GO:0002020]; aging [GO:0007568]; base-excision repair, gap-filling [GO:0006287]; cellular response to glucose stimulus [GO:0071333]; DNA metabolic process [GO:0006259]; DNA-dependent DNA replication [GO:0006261]; mitochondrial DNA replication [GO:0006264]; response to gamma radiation [GO:0010332]; response to hyperoxia [GO:0055093]; response to light stimulus [GO:0009416]

snps:
rs121918045 rs3087373 rs3176162 rs121918056 rs113994093 rs113994094 rs61752784 rs121918044 rs745539599 rs2307437 rs150828914 rs113994095 rs145843073 rs121918052 rs121918055 rs61752783 rs2307447 rs781168350 rs774474723 rs556925652 rs113994096 rs375305567 rs121918046 rs796052906 rs2307450 rs121918054 rs113994097 rs769827124 rs41549716 rs113994098 rs121918053 rs121918050 rs763393580 rs139590686 rs121918048 rs11546842 rs113994099 rs121918051 rs768028281 rs121918049 rs201732356 rs368435864 rs753410045 rs56047213 rs2307442 rs2307441 rs2307440 rs776031396 rs1131691575 rs1085307741 rs3087374 

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:18063578}. Mitochondrion matrix, mitochondrion nucleoid {ECO:0000269|PubMed:18063578}.


uniprotID: P09884
geneSymbol: POLA1
pdb: 1K0P;1K18;1N5G;4Q5V;4QCL;4Y97;5EXR;5IUD;6AS7;
name: DNA polymerase alpha catalytic subunit (EC 2.7.7.7) (DNA polymerase alpha catalytic subunit p180)
length: 1462
go: ENSG00000101868;
drug: DB00242;DB00631;DB01073;DB01280;
snps: rs2230927
reactome:
R-HSA-113501;R-HSA-174411;R-HSA-174430;R-HSA-539107;R-HSA-68952;R-HSA-68962;R-HSA-69091;R-HSA-69166;R-HSA-69183;

sequence:

opentargets:
alpha DNA polymerase:primase complex [GO:0005658]; cytosol [GO:0005829]; nuclear envelope [GO:0005635]; nuclear matrix [GO:0016363]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; 4 iron, 4 sulfur cluster binding [GO:0051539]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA replication origin binding [GO:0003688]; DNA-directed DNA polymerase activity [GO:0003887]; metal ion binding [GO:0046872]; nucleoside binding [GO:0001882]; nucleotide binding [GO:0000166]; protein heterodimerization activity [GO:0046982]; protein kinase binding [GO:0019901]; purine nucleotide binding [GO:0017076]; cell proliferation [GO:0008283]; DNA repair [GO:0006281]; DNA replication [GO:0006260]; DNA replication initiation [GO:0006270]; DNA replication, synthesis of RNA primer [GO:0006269]; DNA strand elongation involved in DNA replication [GO:0006271]; DNA synthesis involved in DNA repair [GO:0000731]; double-strand break repair via nonhomologous end joining [GO:0006303]; G1/S transition of mitotic cell cycle [GO:0000082]; lagging strand elongation [GO:0006273]; leading strand elongation [GO:0006272]; mitotic DNA replication initiation [GO:1902975]; regulation of transcription involved in G1/S transition of mitotic cell cycle [GO:0000083]; synthesis of RNA primer involved in mitotic DNA replication [GO:1902981]; telomere maintenance via semi-conservative replication [GO:0032201]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:27019227}. Cytoplasm, cytosol {ECO:0000269|PubMed:27019227}. Note=In the cytosol, colocalizes with RNA:DNA hybrids with a speckled pattern. {ECO:0000269|PubMed:27019227}.


uniprotID: Q9UGP5
geneSymbol: POLL
reactome: R-HSA-5693571;
length: 575
go: ENSG00000166169;
snps: rs3730463 rs3730477
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10887191}.
pdb:
1NZP;1RZT;1XSL;1XSN;1XSP;2BCQ;2BCR;2BCS;2BCU;2BCV;2GWS;2JW5;2PFN;2PFO;2PFP;2PFQ;3C5F;3C5G;3HW8;3HWT;3HX0;3MDA;3MDC;3MGH;3MGI;3PML;3PMN;3PNC;3UPQ;3UQ0;3UQ2;4FO6;4K4G;4K4H;4K4I;4X5V;4XA5;4XQ8;4XRH;4XUS;5CA7;5CB1;5CHG;5CJ7;5CP2;5CR0;5CWR;5DDM;5DDY;5DKW;5III;5IIJ;5IIK;5IIL;5IIM;5IIN;5IIO;5W4G;

name:
DNA polymerase lambda (Pol Lambda) (EC 2.7.7.7) (EC 4.2.99.-) (DNA polymerase beta-2) (Pol beta2) (DNA polymerase kappa)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; 5'-deoxyribose-5-phosphate lyase activity [GO:0051575]; DNA binding [GO:0003677]; DNA-directed DNA polymerase activity [GO:0003887]; metal ion binding [GO:0046872]; base-excision repair, gap-filling [GO:0006287]; DNA biosynthetic process [GO:0071897]; DNA replication [GO:0006260]; double-strand break repair via homologous recombination [GO:0000724]; double-strand break repair via nonhomologous end joining [GO:0006303]; nucleotide-excision repair [GO:0006289]; somatic hypermutation of immunoglobulin genes [GO:0016446]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UGP5-1; Sequence=Displayed; Name=2; IsoId=Q9UGP5-2; Sequence=VSP_056540, VSP_056541; Note=No experimental confirmation available.; 


uniprotID: Q9NP87
geneSymbol: POLM
reactome: R-HSA-5693571;
name: DNA-directed DNA/RNA polymerase mu (Pol Mu) (EC 2.7.7.7) (Terminal transferase)
length: 494
go: ENSG00000122678;
snps: rs28382635 rs28382644 rs28382653 rs28382661
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
pdb:
2DUN;2HTF;4LZD;4LZG;4M04;4M0A;4YCX;4YD1;4YD2;5TWP;5TWQ;5TWR;5TWS;5TXX;5TXZ;5TYB;5TYC;5TYD;5TYE;5TYF;5TYG;5TYU;5TYV;5TYW;5TYX;5TYY;5TYZ;5VZ7;5VZ8;5VZ9;5VZA;5VZB;5VZC;5VZD;5VZE;5VZF;5VZG;5VZH;5VZI;5W4F;

sequence:

opentargets:
nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; DNA-directed DNA polymerase activity [GO:0003887]; metal ion binding [GO:0046872]; B cell differentiation [GO:0030183]; DNA recombination [GO:0006310]; double-strand break repair via nonhomologous end joining [GO:0006303]; somatic hypermutation of immunoglobulin genes [GO:0016446]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NP87-1; Sequence=Displayed; Name=2; IsoId=Q9NP87-2; Sequence=VSP_055290; Note=No experimental confirmation available.; Name=3; IsoId=Q9NP87-3; Sequence=VSP_055288, VSP_055289, VSP_055291; Note=No experimental confirmation available.; 


uniprotID: Q7Z5Q5
geneSymbol: POLN
reactome: R-HSA-6783310;
pdb: 4XVI;4XVK;4XVL;4XVM;
name: DNA polymerase nu (EC 2.7.7.7)
length: 900
go: ENSG00000130997;
snps: rs2353552 rs35884361 rs10018786 rs11725880 rs10011549 rs9328764 rs34574483 rs34554757
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12794064}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cyclin binding [GO:0030332]; DNA binding [GO:0003677]; DNA-directed DNA polymerase activity [GO:0003887]; DNA-dependent DNA replication [GO:0006261]; double-strand break repair via homologous recombination [GO:0000724]; interstrand cross-link repair [GO:0036297]; translesion synthesis [GO:0019985]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z5Q5-1; Sequence=Displayed; Name=2; IsoId=Q7Z5Q5-3; Sequence=VSP_054402, VSP_054403; Note=No experimental confirmation available.; 


uniprotID: O75417
geneSymbol: POLQ
reactome: R-HSA-5685939;
pdb: 4X0P;4X0Q;5A9F;5A9J;5AGA;
name: DNA polymerase theta (EC 2.7.7.7) (DNA polymerase eta)
length: 2590
go: ENSG00000051341;
snps: rs34778629
sequence:

opentargets:
chromosome [GO:0005694]; cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; 5'-deoxyribose-5-phosphate lyase activity [GO:0051575]; ATP binding [GO:0005524]; chromatin binding [GO:0003682]; damaged DNA binding [GO:0003684]; DNA-directed DNA polymerase activity [GO:0003887]; identical protein binding [GO:0042802]; single-stranded DNA-dependent ATPase activity [GO:0043142]; base-excision repair [GO:0006284]; cellular response to DNA damage stimulus [GO:0006974]; DNA repair [GO:0006281]; DNA-dependent DNA replication [GO:0006261]; double-strand break repair [GO:0006302]; double-strand break repair via alternative nonhomologous end joining [GO:0097681]; double-strand break repair via homologous recombination [GO:0000724]; negative regulation of double-strand break repair via homologous recombination [GO:2000042]; protein homooligomerization [GO:0051260]; somatic hypermutation of immunoglobulin genes [GO:0016446]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75417-1; Sequence=Displayed; Name=2; IsoId=O75417-2; Sequence=VSP_040747, VSP_040748; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:O18475}. Chromosome {ECO:0000269|PubMed:25642963}. Note=Enriched in chromatin in response to ultaviolet (UV) light (PubMed:25642963). Binds to chromatin during early G1 (PubMed:24989122). {ECO:0000269|PubMed:24989122, ECO:0000269|PubMed:25642963}.


uniprotID: Q14674
geneSymbol: ESPL1
reactome: R-HSA-2467813;
name: Separin (EC 3.4.22.49) (Caspase-like protein ESPL1) (Extra spindle poles-like 1 protein) (Separase)
length: 2120
go: ENSG00000135476;
snps: rs1318648 rs34424268 rs34130634 rs35428211 rs34396464 rs1110719
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitotic spindle [GO:0072686]; nucleus [GO:0005634]; catalytic activity [GO:0003824]; cysteine-type endopeptidase activity [GO:0004197]; cysteine-type peptidase activity [GO:0008234]; apoptotic process [GO:0006915]; establishment of mitotic spindle localization [GO:0040001]; homologous chromosome segregation [GO:0045143]; meiotic chromosome separation [GO:0051307]; meiotic spindle organization [GO:0000212]; mitotic cytokinesis [GO:0000281]; mitotic sister chromatid segregation [GO:0000070]; negative regulation of sister chromatid cohesion [GO:0045875]; positive regulation of mitotic metaphase/anaphase transition [GO:0045842]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14674-1; Sequence=Displayed; Name=2; IsoId=Q14674-2; Sequence=VSP_009361; Note=No experimental confirmation available.; 


uniprotID: P42658
geneSymbol: DPP6
pdb: 1XFD;
length: 865
go: ENSG00000130226;
snps: rs786205143 rs3734960
name:
Dipeptidyl aminopeptidase-like protein 6 (DPPX) (Dipeptidyl aminopeptidase-related protein) (Dipeptidyl peptidase 6) (Dipeptidyl peptidase IV-like protein) (Dipeptidyl peptidase VI) (DPP VI)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; potassium channel regulator activity [GO:0015459]; serine-type peptidase activity [GO:0008236]; protein localization to plasma membrane [GO:0072659]; regulation of potassium ion transmembrane transport [GO:1901379]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=DPPX-L; IsoId=P42658-1; Sequence=Displayed; Name=DPPX-S; IsoId=P42658-2; Sequence=VSP_005365; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18364354, ECO:0000269|PubMed:19441798}; Single-pass type II membrane protein {ECO:0000305}.


uniprotID: Q8N682
geneSymbol: DRAM1
name: DNA damage-regulated autophagy modulator protein 1 (Damage-regulated autophagy modulator)
length: 238
go: ENSG00000136048;
sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; apoptotic process [GO:0006915]; autophagy [GO:0006914]; regulation of autophagy [GO:0010506]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N682-1; Sequence=Displayed; Name=2; IsoId=Q8N682-2; Sequence=VSP_056980; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:16839881}; Multi-pass membrane protein {ECO:0000269|PubMed:16839881}.


uniprotID: Q9UH73
geneSymbol: EBF1
reactome: R-HSA-381340;
pdb: 3LYR;3MQI;
name: Transcription factor COE1 (O/E-1) (OE-1) (Early B-cell factor)
length: 591
go: ENSG00000164330;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; C2H2 zinc finger domain binding [GO:0070742]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; protein dimerization activity [GO:0046983]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; multicellular organism development [GO:0007275]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UH73-1; Sequence=Displayed; Name=2; IsoId=Q9UH73-2; Sequence=VSP_012304, VSP_012305; Note=No experimental confirmation available.; 


uniprotID: Q9H693
geneSymbol: C16orf95
name: Uncharacterized protein C16orf95
length: 158
go: ENSG00000260456;
sequence:
MRASRSPPSPRRCHHHHEATGAASGAAAGGPGAGCVGLCRLALTPSAQDGRNSTFQTYKKEVCLPRHSMHPGPWAICCECQTRFGGRLPVSRVEAALPYWVPLSLRPRKQHPCWMHAAGTTAGGSAVMSACCPSSSSSRPPTRTSYRLLQRVCCPSAS


uniprotID: O14810
geneSymbol: CPLX1
reactome: R-HSA-181429;R-HSA-181430;R-HSA-210500;R-HSA-212676;R-HSA-264642;R-HSA-888590;
pdb: 3RK3;3RL0;
name: Complexin-1 (Complexin I) (CPX I) (Synaphin-2)
length: 134
go: ENSG00000168993;
sequence:
MEFVMKQALGGATKDMGKMLGGDEEKDPDAAKKEEERQEALRQAEEERKAKYAKMEAEREAVRQGIRDKYGIKKKEEREAEAQAAMEANSEGSLTRPKKAIPPGCGDEVEEEDESILDTVIKYLPGPLQDMLKK

opentargets:
calyx of Held [GO:0044305]; cytosol [GO:0005829]; dendrite [GO:0030425]; glutamatergic synapse [GO:0098978]; neuronal cell body [GO:0043025]; postsynapse [GO:0098794]; Schaffer collateral - CA1 synapse [GO:0098685]; SNARE complex [GO:0031201]; synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex [GO:0070032]; synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex [GO:0070554]; terminal bouton [GO:0043195]; neurotransmitter transporter activity [GO:0005326]; SNARE binding [GO:0000149]; syntaxin-1 binding [GO:0017075]; chemical synaptic transmission [GO:0007268]; exocytic insertion of neurotransmitter receptor to postsynaptic membrane [GO:0098967]; exocytosis [GO:0006887]; insulin secretion [GO:0030073]; regulation of exocytosis [GO:0017157]; regulation of neurotransmitter secretion [GO:0046928]; regulation of synaptic vesicle fusion to presynaptic active zone membrane [GO:0031630]; synaptic vesicle exocytosis [GO:0016079]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:P63040}. Note=Enriched at synaptic-releasing sites in mature neurons. {ECO:0000250|UniProtKB:P63040}.


uniprotID: Q494W8
geneSymbol: CHRFAM7A
name: CHRNA7-FAM7A fusion protein (CHRNA7-DR1) (D-10)
length: 412
go: ENSG00000166664;
drug: DB07980;DB07720;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
sequence:

opentargets:
acetylcholine-gated channel complex [GO:0005892]; integral component of plasma membrane [GO:0005887]; neuron projection [GO:0043005]; synapse [GO:0045202]; acetylcholine binding [GO:0042166]; extracellular ligand-gated ion channel activity [GO:0005230]; transmembrane signaling receptor activity [GO:0004888]; chemical synaptic transmission [GO:0007268]; ion transmembrane transport [GO:0034220]; nervous system process [GO:0050877]; regulation of membrane potential [GO:0042391]; signal transduction [GO:0007165]; synaptic transmission, cholinergic [GO:0007271]


uniprotID: Q96D31
geneSymbol: ORAI1
reactome: R-HSA-139853;R-HSA-5578775;R-HSA-983695;
pdb: 2MAK;4EHQ;
name: Calcium release-activated calcium channel protein 1 (Protein orai-1) (Transmembrane protein 142A)
length: 301
go: ENSG00000276045;
snps: rs118203993 rs3741596 rs587777528
sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; calmodulin binding [GO:0005516]; identical protein binding [GO:0042802]; store-operated calcium channel activity [GO:0015279]; adaptive immune response [GO:0002250]; calcium ion import [GO:0070509]; mammary gland epithelium development [GO:0061180]; positive regulation of calcium ion transport [GO:0051928]; regulation of calcium ion transport [GO:0051924]; store-operated calcium entry [GO:0002115]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=2;  Name=alpha; IsoId=Q96D31-1; Sequence=Displayed; Name=beta; IsoId=Q96D31-2; Sequence=VSP_044421; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:16582901, ECO:0000269|PubMed:16645049, ECO:0000269|PubMed:19249086, ECO:0000269|PubMed:22641696, ECO:0000269|PubMed:23307288, ECO:0000269|PubMed:24351972, ECO:0000269|PubMed:27185316, ECO:0000269|PubMed:28058752, ECO:0000269|PubMed:28219928}; Multi-pass membrane protein {ECO:0000269|PubMed:16582901, ECO:0000269|PubMed:16645049, ECO:0000269|PubMed:19249086, ECO:0000269|PubMed:22641696, ECO:0000269|PubMed:24351972}. Note=Isoform beta is more mobile in the plasma membrane (PubMed:23307288). Colocalizes with STIM1 at the cell membrane (PubMed:27185316). {ECO:0000269|PubMed:23307288, ECO:0000269|PubMed:27185316}.


uniprotID: P01906
geneSymbol: HLA-DQA2
reactome: R-HSA-202424;R-HSA-202427;R-HSA-202430;R-HSA-202433;R-HSA-2132295;R-HSA-389948;R-HSA-877300;
length: 255
go: ENSG00000237541;
drug: DB00071;
snps: rs9276436 rs2071800
name:
HLA class II histocompatibility antigen, DQ alpha 2 chain (DX alpha chain) (HLA class II histocompatibility antigen, DQ(6) alpha chain) (HLA-DQA1) (MHC class II DQA2)

sequence:

opentargets:
clathrin-coated endocytic vesicle membrane [GO:0030669]; endocytic vesicle membrane [GO:0030666]; endosome membrane [GO:0010008]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; integral component of plasma membrane [GO:0005887]; lysosomal membrane [GO:0005765]; MHC class II protein complex [GO:0042613]; plasma membrane [GO:0005886]; trans-Golgi network membrane [GO:0032588]; transport vesicle membrane [GO:0030658]; MHC class II receptor activity [GO:0032395]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; immune response [GO:0006955]; interferon-gamma-mediated signaling pathway [GO:0060333]; T cell receptor signaling pathway [GO:0050852]

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


uniprotID: Q9NTM9
geneSymbol: CUTC
reactome: R-HSA-936837;
pdb: 3IWP;
name: Copper homeostasis protein cutC homolog
length: 273
go: ENSG00000119929;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; copper ion binding [GO:0005507]; copper ion homeostasis [GO:0055070]; copper ion transport [GO:0006825]; protein tetramerization [GO:0051262]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16182249}. Nucleus {ECO:0000269|PubMed:16182249}. Note=The overexpressed protein is detected in the cytoplasm, and depending on the cell line, also in the nucleus.


uniprotID: P08034
geneSymbol: GJB1
reactome: R-HSA-190704;R-HSA-190827;R-HSA-190861;
pdb: 1TXH;5KK9;
name: Gap junction beta-1 protein (Connexin-32) (Cx32) (GAP junction 28 kDa liver protein)
length: 283
go: ENSG00000169562;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
sequence:

opentargets:
connexin complex [GO:0005922]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; lateral plasma membrane [GO:0016328]; gap junction channel activity [GO:0005243]; protein homodimerization activity [GO:0042803]; cell-cell signaling [GO:0007267]; epididymis development [GO:1905867]; gap junction assembly [GO:0016264]; nervous system development [GO:0007399]; protein complex oligomerization [GO:0051259]; purine ribonucleotide transport [GO:0015868]

snps:
rs104894820 rs104894820 rs863224974 rs116840815 rs1060501002 rs587777876 rs768834663 rs768834663 rs104894817 rs1060501000 rs1060500998 rs879254012 rs786204095 rs116840817 rs863224613 rs104894824 rs116840818 rs104894819 rs878853697 rs863224972 rs116840819 rs199570177 rs879254097 rs104894823 rs587777877 rs756928158 rs756000896 rs104894821 rs779696968 rs1131691322 rs863224973 rs876661119 rs879253995 rs104894813 rs104894826 rs104894812 rs786204123 rs104894810 rs104894818 rs1241595912 rs139643362 rs104894811 rs879253909 rs863224471 rs116840821 rs1064794244 rs770116247 rs587777878 rs104894822 rs753503984 rs879254099 rs144381053 rs199834862 rs104894814 rs587781246 rs780335726 rs104894825 rs776206757 rs587777879 


uniprotID: P36383
geneSymbol: GJC1
reactome: R-HSA-112303;R-HSA-190861;
pdb: 3SHW;
name: Gap junction gamma-1 protein (Connexin-45) (Cx45) (Gap junction alpha-7 protein)
length: 396
go: ENSG00000182963;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
sequence:

opentargets:
connexin complex [GO:0005922]; endoplasmic reticulum membrane [GO:0005789]; gap junction [GO:0005921]; integral component of membrane [GO:0016021]; intercalated disc [GO:0014704]; plasma membrane [GO:0005886]; gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling [GO:0086077]; gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling [GO:0086020]; ion channel activity [GO:0005216]; atrial cardiac muscle cell action potential [GO:0086014]; AV node cell to bundle of His cell communication by electrical coupling [GO:0086053]; cardiac muscle tissue development [GO:0048738]; cell development [GO:0048468]; cell-cell junction assembly [GO:0007043]; chemical synaptic transmission [GO:0007268]; gap junction assembly [GO:0016264]; muscle contraction [GO:0006936]; SA node cell to atrial cardiac muscle cell communication by electrical coupling [GO:0086021]; vasculogenesis [GO:0001570]; visual perception [GO:0007601]


uniprotID: P14406
geneSymbol: COX7A2
sequence: MLRNLLALRQIGQRTISTASRRHFKNKVPEKQKLFQEDDEIPLYLKGGVADALLYRATMILTVGGTAYAIYELAVASFPKKQE
length: 83
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane.
name:
Cytochrome c oxidase subunit 7A2, mitochondrial (Cytochrome c oxidase subunit VIIa-liver/heart) (Cytochrome c oxidase subunit VIIa-L) (Cytochrome c oxidase subunit VIIaL)

opentargets:
mitochondrial respiratory chain [GO:0005746]; mitochondrial respiratory chain supercomplex [GO:0097249]; cytochrome-c oxidase activity [GO:0004129]; mitochondrial respiratory chain supercomplex assembly [GO:0097250]; regulation of oxidative phosphorylation [GO:0002082]


uniprotID: P19876
geneSymbol: CXCL3
reactome: R-HSA-380108;R-HSA-418594;
length: 107
go: ENSG00000163734;
snps: rs352043
location: SUBCELLULAR LOCATION: Secreted.
name:
C-X-C motif chemokine 3 (GRO-gamma(1-73)) (Growth-regulated protein gamma) (GRO-gamma) (Macrophage inflammatory protein 2-beta) (MIP2-beta) [Cleaved into: GRO-gamma(5-73)]

sequence:
MAHATLSAAPSNPRLLRVALLLLLLVAASRRAAGASVVTELRCQCLQTLQGIHLKNIQSVNVRSPGPHCAQTEVIATLKNGKKACLNPASPMVQKIIEKILNKGSTN

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


uniprotID: P36382
geneSymbol: GJA5
reactome: R-HSA-190861;
name: Gap junction alpha-5 protein (Connexin-40) (Cx40)
length: 358
go: ENSG00000265107;
snps: rs387906613 rs121434558 rs121434557 rs387906614 rs387906615
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
sequence:

opentargets:
cell projection [GO:0042995]; connexin complex [GO:0005922]; gap junction [GO:0005921]; integral component of plasma membrane [GO:0005887]; intercalated disc [GO:0014704]; connexin binding [GO:0071253]; disordered domain specific binding [GO:0097718]; gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling [GO:0086076]; gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling [GO:0086077]; gap junction channel activity involved in bundle of His cell-Purkinje myocyte electrical coupling [GO:0086078]; gap junction channel activity involved in cardiac conduction electrical coupling [GO:0086075]; gap junction channel activity involved in Purkinje myocyte-ventricular cardiac muscle cell electrical coupling [GO:0086079]; gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling [GO:0086020]; gap junction hemi-channel activity [GO:0055077]; angiogenesis [GO:0001525]; artery morphogenesis [GO:0048844]; atrial cardiac muscle cell to AV node cell communication by electrical coupling [GO:0086044]; atrial septum development [GO:0003283]; atrial septum morphogenesis [GO:0060413]; atrial ventricular junction remodeling [GO:0003294]; AV node cell to bundle of His cell communication by electrical coupling [GO:0086053]; bundle of His cell to Purkinje myocyte communication by electrical coupling [GO:0086054]; cardiac conduction system development [GO:0003161]; cell communication by chemical coupling [GO:0010643]; cell communication by electrical coupling involved in cardiac conduction [GO:0086064]; embryonic heart tube development [GO:0035050]; embryonic limb morphogenesis [GO:0030326]; endothelium development [GO:0003158]; foramen ovale closure [GO:0035922]; gap junction assembly [GO:0016264]; mitral valve development [GO:0003174]; negative regulation of blood pressure [GO:0045776]; negative regulation of glomerular filtration [GO:0003105]; outflow tract morphogenesis [GO:0003151]; positive regulation of blood vessel diameter [GO:0097755]; positive regulation of cell communication by chemical coupling [GO:0010652]; positive regulation of vasoconstriction [GO:0045907]; potassium ion transport [GO:0006813]; protein complex oligomerization [GO:0051259]; pulmonary valve formation [GO:0003193]; Purkinje myocyte to ventricular cardiac muscle cell communication by electrical coupling [GO:0086055]; regulation of atrial cardiac muscle cell action potential [GO:0098910]; regulation of atrial cardiac muscle cell membrane depolarization [GO:0060371]; regulation of AV node cell action potential [GO:0098904]; regulation of bundle of His cell action potential [GO:0098905]; regulation of cardiac muscle contraction [GO:0055117]; regulation of heart rate by cardiac conduction [GO:0086091]; regulation of membrane depolarization during cardiac muscle cell action potential [GO:1900825]; regulation of Purkinje myocyte action potential [GO:0098906]; regulation of renin secretion into blood stream [GO:1900133]; regulation of ventricular cardiac muscle cell membrane depolarization [GO:0060373]; regulation of ventricular cardiac muscle cell membrane repolarization [GO:0060307]; SA node cell action potential [GO:0086015]; SA node cell to atrial cardiac muscle cell communication by electrical coupling [GO:0086021]; septum primum development [GO:0003284]; skeletal system development [GO:0001501]; vasomotion [GO:1990029]; ventricular cardiac muscle cell action potential [GO:0086005]; ventricular septum development [GO:0003281]; ventricular septum morphogenesis [GO:0060412]


uniprotID: Q9H8M1
geneSymbol: COQ10B
reactome: R-HSA-611105;
name: Coenzyme Q-binding protein COQ10 homolog B, mitochondrial
length: 238
go: ENSG00000115520;
snps: rs34946819
sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; ubiquinone binding [GO:0048039]; cellular respiration [GO:0045333]; ubiquinone biosynthetic process [GO:0006744]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H8M1-1; Sequence=Displayed; Name=2; IsoId=Q9H8M1-2; Sequence=VSP_056949; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Matrix side {ECO:0000250}.


uniprotID: Q16850
geneSymbol: CYP51A1
reactome: R-HSA-191273;R-HSA-211976;R-HSA-2426168;
pdb: 3JUS;3JUV;3LD6;4UHI;4UHL;
length: 503
go: ENSG00000001630;
drug: DB01167;DB01026;DB00916;DB01045;DB01153;DB01007;
snps: rs2229188
name:
Lanosterol 14-alpha demethylase (LDM) (EC 1.14.14.154) (CYPLI) (Cytochrome P450 51A1) (Cytochrome P450-14DM) (Cytochrome P45014DM) (Cytochrome P450LI) (Sterol 14-alpha demethylase)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; organelle membrane [GO:0031090]; plasma membrane [GO:0005886]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; sterol 14-demethylase activity [GO:0008398]; cholesterol biosynthetic process [GO:0006695]; cholesterol biosynthetic process via 24,25-dihydrolanosterol [GO:0033488]; oxidation-reduction process [GO:0055114]; regulation of cholesterol biosynthetic process [GO:0045540]; steroid biosynthetic process [GO:0006694]; sterol biosynthetic process [GO:0016126]; sterol metabolic process [GO:0016125]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q16850-1; Sequence=Displayed; Name=2; IsoId=Q16850-2; Sequence=VSP_037413; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q64654}; Single-pass membrane protein {ECO:0000255}. Microsome membrane {ECO:0000250|UniProtKB:Q64654}; Single-pass membrane protein {ECO:0000255}.


uniprotID: P05177
geneSymbol: CYP1A2
reactome: R-HSA-156581;R-HSA-211957;R-HSA-2142670;R-HSA-2142816;R-HSA-5423646;R-HSA-9018681;R-HSA-9027307;
pdb: 2HI4;
length: 516
go: ENSG00000140505;
name:
Cytochrome P450 1A2 (EC 1.14.14.1) (CYPIA2) (Cholesterol 25-hydroxylase) (Cytochrome P(3)450) (Cytochrome P450 4) (Cytochrome P450-P3)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; intracellular membrane-bounded organelle [GO:0043231]; organelle membrane [GO:0031090]; aromatase activity [GO:0070330]; caffeine oxidase activity [GO:0034875]; demethylase activity [GO:0032451]; electron transfer activity [GO:0009055]; enzyme binding [GO:0019899]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; monooxygenase activity [GO:0004497]; oxidoreductase activity [GO:0016491]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen [GO:0016712]; alkaloid metabolic process [GO:0009820]; cellular respiration [GO:0045333]; cellular response to cadmium ion [GO:0071276]; cellular response to copper ion [GO:0071280]; dibenzo-p-dioxin metabolic process [GO:0018894]; drug catabolic process [GO:0042737]; drug metabolic process [GO:0017144]; epoxygenase P450 pathway [GO:0019373]; exogenous drug catabolic process [GO:0042738]; heterocycle metabolic process [GO:0046483]; hydrogen peroxide biosynthetic process [GO:0050665]; long-chain fatty acid biosynthetic process [GO:0042759]; lung development [GO:0030324]; methylation [GO:0032259]; monocarboxylic acid metabolic process [GO:0032787]; monoterpenoid metabolic process [GO:0016098]; omega-hydroxylase P450 pathway [GO:0097267]; oxidation-reduction process [GO:0055114]; oxidative deethylation [GO:0071615]; oxidative demethylation [GO:0070989]; porphyrin-containing compound metabolic process [GO:0006778]; post-embryonic development [GO:0009791]; regulation of gene expression [GO:0010468]; response to estradiol [GO:0032355]; response to immobilization stress [GO:0035902]; response to lipopolysaccharide [GO:0032496]; steroid catabolic process [GO:0006706]; toxin biosynthetic process [GO:0009403]; xenobiotic metabolic process [GO:0006805]

drug:
DB07453;DB05812;DB01418;DB00316;DB00787;DB06594;DB00518;DB00523;DB00918;DB00969;DB00357;DB01424;DB01223;DB01118;DB00321;DB00381;DB00261;DB01217;DB01435;DB06605;DB00714;DB00673;DB06413;DB06216;DB01072;DB00572;DB06626;DB00972;DB00207;DB06769;DB06770;DB06732;DB00195;DB00188;DB01558;DB01200;DB00297;DB00921;DB01156;DB00201;DB06774;DB00564;DB00389;DB00262;DB01136;DB00477;DB00356;DB01166;DB00501;DB01012;DB00568;DB00537;DB00604;DB00215;DB01211;DB01407;DB04920;DB01013;DB00882;DB01242;DB00575;DB00758;DB00257;DB00363;DB00286;DB05219;DB00924;DB00851;DB04816;DB06292;DB01254;DB00694;DB00705;DB01151;DB00967;DB01191;DB00633;DB00829;DB00586;DB00917;DB01075;DB00822;DB01184;DB00988;DB01142;DB00476;DB00974;DB00625;DB06210;DB00467;DB00494;DB00668;DB00696;DB00530;DB00199;DB00783;DB00655;DB04574;DB00898;DB00773;DB01628;DB00196;DB04841;DB01544;DB00544;DB00472;DB00623;DB00499;DB01095;DB00176;DB00998;DB01241;DB01645;DB08909;DB00365;DB00400;DB05708;DB00629;DB00502;DB01094;DB01355;DB11737;DB04946;DB00619;DB00458;DB00724;DB01306;DB09456;DB01307;DB00047;DB01309;DB00030;DB00046;DB00071;DB00033;DB01029;DB00951;DB09570;DB01026;DB00448;DB01097;DB01002;DB01137;DB00281;DB00978;DB01601;DB04871;DB00678;DB01283;DB00772;DB00934;DB00737;DB01065;DB00170;DB00532;DB01357;DB00333;DB00763;DB01403;DB00553;DB01028;DB00379;DB06148;DB01388;DB01110;DB00834;DB00370;DB01171;DB00745;DB00461;DB00607;DB00788;DB01149;DB00220;DB00238;DB06803;DB00184;DB01115;DB06712;DB00401;DB00435;DB00325;DB00368;DB01059;DB00540;DB05990;DB01165;DB00334;DB00338;DB00904;DB01173;DB09330;DB00526;DB01303;DB06412;DB00377;DB00213;DB00715;DB06589;DB00487;DB00008;DB00022;DB00738;DB00806;DB00850;DB03783;DB01174;DB00191;DB00388;DB00397;DB01100;DB01621;DB08910;DB01058;DB01087;DB00794;DB00396;DB01131;DB00420;DB01182;DB00818;DB00571;DB00339;DB00908;DB00468;DB01129;DB00980;DB00863;DB01367;DB02709;DB00615;DB01045;DB08864;DB00740;DB00503;DB00953;DB00533;DB00268;DB00296;DB00412;DB05271;DB00778;DB12332;DB00418;DB01037;DB01104;DB06290;DB06819;DB00398;DB00428;DB06820;DB00605;DB00382;DB00675;DB01079;DB00976;DB01405;DB00300;DB00857;DB01041;DB01412;DB00277;DB00730;DB00679;DB01623;DB00208;DB01007;DB00697;DB01056;DB00539;DB00752;DB00384;DB00831;DB08867;DB00577;DB00313;DB08881;DB00661;DB00682;DB00549;DB00744;DB00246;DB00315;DB00425;

snps:
rs17861152 rs56160784 rs45565238 rs34067076 rs45442197 rs45540640 rs45468096 rs17861157 rs35796837 rs28399418 rs56276455 rs55889066 rs28399424 rs45486893 rs34151816 

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


uniprotID: H7BZ55
geneSymbol: CROCC2
name: Putative ciliary rootlet coiled-coil protein 2
length: 1655
go: ENSG00000226321;
sequence:


uniprotID: Q96B23
geneSymbol: C18orf25
name: Uncharacterized protein C18orf25 (ARKadia-like protein 1)
length: 404
go: ENSG00000152242;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96B23-1; Sequence=Displayed; Name=2; IsoId=Q96B23-2; Sequence=VSP_014753; 


uniprotID: P23786
geneSymbol: CPT2
reactome: R-HSA-1989781;R-HSA-200425;
length: 658
go: ENSG00000157184;
drug: DB00583;DB01074;
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.
name:
Carnitine O-palmitoyltransferase 2, mitochondrial (EC 2.3.1.21) (Carnitine palmitoyltransferase II) (CPT II)

sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; carnitine O-palmitoyltransferase activity [GO:0004095]; carnitine shuttle [GO:0006853]; fatty acid beta-oxidation [GO:0006635]; positive regulation of cold-induced thermogenesis [GO:0120162]; regulation of lipid metabolic process [GO:0019216]

snps:
rs28936375 rs74315294 rs515726177 rs28936674 rs74315300 rs515726174 rs74315298 rs764849762 rs2229291 rs1799821 rs74315295 rs74315297 rs749895856 rs74315296 rs368311455 rs186044004 rs28936376 rs1871748 rs751557097 rs28936673 rs74315293 rs1799822 


uniprotID: O14936
geneSymbol: CASK
reactome: R-HSA-212676;R-HSA-3000170;R-HSA-373753;R-HSA-6794361;
pdb: 1KGD;1KWA;1ZL8;3C0G;3C0H;3C0I;3MFR;3MFS;3MFT;3MFU;3TAC;
length: 926
go: ENSG00000147044;
drug: DB01942;
snps: rs137852816 rs137852817 rs137852820 rs137852818
name:
Peripheral plasma membrane protein CASK (hCASK) (EC 2.7.11.1) (Calcium/calmodulin-dependent serine protein kinase) (Protein lin-2 homolog)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; basement membrane [GO:0005604]; basolateral plasma membrane [GO:0016323]; cell-cell junction [GO:0005911]; ciliary membrane [GO:0060170]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; nuclear lamina [GO:0005652]; nuclear matrix [GO:0016363]; nucleolus [GO:0005730]; plasma membrane [GO:0005886]; presynaptic membrane [GO:0042734]; Schaffer collateral - CA1 synapse [GO:0098685]; vesicle [GO:0031982]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; guanylate kinase activity [GO:0004385]; neurexin family protein binding [GO:0042043]; protein serine/threonine kinase activity [GO:0004674]; calcium ion import [GO:0070509]; cell adhesion [GO:0007155]; negative regulation of cell-matrix adhesion [GO:0001953]; negative regulation of cellular response to growth factor stimulus [GO:0090288]; negative regulation of keratinocyte proliferation [GO:0010839]; negative regulation of wound healing [GO:0061045]; neurotransmitter secretion [GO:0007269]; positive regulation of calcium ion import [GO:0090280]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of synaptic vesicle exocytosis [GO:2000300]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=O14936-1; Sequence=Displayed; Name=2; IsoId=O14936-2; Sequence=VSP_024426; Name=3; IsoId=O14936-3; Sequence=VSP_024422, VSP_024424; Name=4; IsoId=O14936-4; Sequence=VSP_024424, VSP_024426; Name=5; IsoId=O14936-5; Sequence=VSP_024421, VSP_024423, VSP_024424; Name=6; IsoId=O14936-6; Sequence=VSP_024425, VSP_024426; Note=Gene prediction confirmed by EST data.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Cytoplasm {ECO:0000250}. Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.


uniprotID: Q7Z407
geneSymbol: CSMD3
name: CUB and sushi domain-containing protein 3 (CUB and sushi multiple domains protein 3)
length: 3707
go: ENSG00000164796;
snps: rs2219898 rs2193430 rs780986269 rs139968762 rs1592624
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; regulation of dendrite development [GO:0050773]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q7Z407-1; Sequence=Displayed; Name=2; IsoId=Q7Z407-2; Sequence=VSP_009047; Name=3; IsoId=Q7Z407-3; Sequence=VSP_009048, VSP_009049; Name=4; IsoId=Q7Z407-4; Sequence=VSP_009050; Note=No experimental confirmation available.; Name=5; IsoId=Q7Z407-5; Sequence=VSP_009051, VSP_009052; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q80T79}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q80T79}.


uniprotID: P08574
geneSymbol: CYC1
reactome: R-HSA-1268020;R-HSA-611105;
pdb: 5XTE;5XTH;5XTI;
length: 325
go: ENSG00000179091;
drug: DB08453;DB07778;DB07401;DB08330;DB08690;
snps: rs7820984 rs587777041 rs587777042
name:
Cytochrome c1, heme protein, mitochondrial (Complex III subunit 4) (Complex III subunit IV) (Cytochrome b-c1 complex subunit 4) (Ubiquinol-cytochrome-c reductase complex cytochrome c1 subunit) (Cytochrome c-1)

sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex III [GO:0005750]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity [GO:0045155]; electron transporter, transferring electrons within CoQH2-cytochrome c reductase complex activity [GO:0045153]; heme binding [GO:0020037]; metal ion binding [GO:0046872]; mitochondrial ATP synthesis coupled proton transport [GO:0042776]; mitochondrial electron transport, ubiquinol to cytochrome c [GO:0006122]; response to glucagon [GO:0033762]

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane; Single-pass membrane protein; Intermembrane side.


uniprotID: P35212
geneSymbol: GJA4
reactome: R-HSA-190861;
name: Gap junction alpha-4 protein (Connexin-37) (Cx37)
length: 333
go: ENSG00000187513;
snps: rs147128480 rs41266431 rs1764391
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
sequence:

opentargets:
connexin complex [GO:0005922]; gap junction [GO:0005921]; integral component of plasma membrane [GO:0005887]; blood vessel development [GO:0001568]; calcium ion transport [GO:0006816]; cell-cell junction assembly [GO:0007043]; cell-cell signaling [GO:0007267]; endothelium development [GO:0003158]; response to pain [GO:0048265]


uniprotID: P13498
geneSymbol: CYBA
reactome: R-HSA-1222556;R-HSA-1236973;R-HSA-3299685;R-HSA-4420097;R-HSA-5668599;R-HSA-6798695;
pdb: 1WLP;
length: 195
go: ENSG00000051523;
drug: DB00514;
name:
Cytochrome b-245 light chain (Cytochrome b(558) alpha chain) (Cytochrome b558 subunit alpha) (Neutrophil cytochrome b 22 kDa polypeptide) (Superoxide-generating NADPH oxidase light chain subunit) (p22 phagocyte B-cytochrome) (p22-phox) (p22phox)

sequence:
MGQIEWAMWANEQALASGLILITGGIVATAGRFTQWYFGAYSIVAGVFVCLLEYPRGKRKKGSTMERWGQKYMTAVVKLFGPFTRNYYVRAVLHLLLSVPAGFLLATILGTACLAIASGIYLLAAVRGEQWTPIEPKPRERPQIGGTIKQPPSNPPPRPPAEARKKPSEEEAAVAAGGPPGGPQVNPIPVTDEVV

opentargets:
apical plasma membrane [GO:0016324]; dendrite [GO:0030425]; endoplasmic reticulum membrane [GO:0005789]; endosome [GO:0005768]; focal adhesion [GO:0005925]; Golgi apparatus [GO:0005794]; membrane [GO:0016020]; NADPH oxidase complex [GO:0043020]; neuronal cell body [GO:0043025]; nucleus [GO:0005634]; perinuclear endoplasmic reticulum [GO:0097038]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; secretory granule [GO:0030141]; specific granule membrane [GO:0035579]; stress fiber [GO:0001725]; tertiary granule membrane [GO:0070821]; electron transfer activity [GO:0009055]; heme binding [GO:0020037]; metal ion binding [GO:0046872]; protein heterodimerization activity [GO:0046982]; SH3 domain binding [GO:0017124]; superoxide-generating NADPH oxidase activity [GO:0016175]; cellular response to angiotensin [GO:1904385]; cellular response to gamma radiation [GO:0071480]; cellular response to glucose stimulus [GO:0071333]; cellular response to L-glutamine [GO:1904845]; cellular response to mechanical stimulus [GO:0071260]; cellular response to organic cyclic compound [GO:0071407]; cellular response to oxidative stress [GO:0034599]; cellular response to tumor necrosis factor [GO:0071356]; cytochrome complex assembly [GO:0017004]; hydrogen peroxide biosynthetic process [GO:0050665]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; negative regulation of glomerular filtration by angiotensin [GO:0003106]; neutrophil degranulation [GO:0043312]; oxidation-reduction process [GO:0055114]; positive regulation of cell growth [GO:0030307]; positive regulation of defense response to bacterium [GO:1900426]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of mucus secretion [GO:0070257]; positive regulation of NAD(P)H oxidase activity [GO:0033864]; positive regulation of phagocytosis [GO:0050766]; positive regulation of reactive oxygen species biosynthetic process [GO:1903428]; positive regulation of smooth muscle cell proliferation [GO:0048661]; positive regulation of superoxide anion generation [GO:0032930]; positive regulation of toll-like receptor 2 signaling pathway [GO:0034137]; positive regulation of tumor necrosis factor production [GO:0032760]; regulation of release of sequestered calcium ion into cytosol [GO:0051279]; respiratory burst [GO:0045730]; response to activity [GO:0014823]; response to aldosterone [GO:1904044]; response to hypoxia [GO:0001666]; response to interleukin-1 [GO:0070555]; smooth muscle hypertrophy [GO:0014895]; superoxide anion generation [GO:0042554]; superoxide metabolic process [GO:0006801]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]

snps:
rs28941476 rs179363891 rs179363890 rs179363893 rs4673 rs104894513 rs179363892 rs104894510 rs104894514 rs179363894 rs119103269 rs104894515 rs72667005 rs1049254 rs72667006 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15585859, ECO:0000269|PubMed:22808130}. Note=As unassembled monomer may localize to the endoplasmic reticulum. {ECO:0000250|UniProtKB:Q61462}.


uniprotID: P04839
geneSymbol: CYBB
reactome: R-HSA-1222556;R-HSA-1236973;R-HSA-3299685;R-HSA-4420097;R-HSA-5668599;R-HSA-6798695;
pdb: 3A1F;
length: 570
go: ENSG00000165168;
drug: DB00514;
name:
Cytochrome b-245 heavy chain (EC 1.-.-.-) (CGD91-phox) (Cytochrome b(558) subunit beta) (Cytochrome b558 subunit beta) (Heme-binding membrane glycoprotein gp91phox) (NADPH oxidase 2) (Neutrophil cytochrome b 91 kDa polypeptide) (Superoxide-generating NADPH oxidase heavy chain subunit) (gp91-1) (gp91-phox) (p22 phagocyte B-cytochrome)

sequence:

opentargets:
dendrite [GO:0030425]; endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; NADPH oxidase complex [GO:0043020]; neuronal cell body [GO:0043025]; nuclear envelope [GO:0005635]; perinuclear region of cytoplasm [GO:0048471]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; rough endoplasmic reticulum [GO:0005791]; specific granule membrane [GO:0035579]; tertiary granule membrane [GO:0070821]; flavin adenine dinucleotide binding [GO:0050660]; heme binding [GO:0020037]; metal ion binding [GO:0046872]; protein heterodimerization activity [GO:0046982]; superoxide-generating NADPH oxidase activity [GO:0016175]; voltage-gated ion channel activity [GO:0005244]; cellular response to cadmium ion [GO:0071276]; cellular response to ethanol [GO:0071361]; cellular response to L-glutamine [GO:1904845]; cellular response to oxidative stress [GO:0034599]; electron transport chain [GO:0022900]; hydrogen peroxide biosynthetic process [GO:0050665]; hypoxia-inducible factor-1alpha signaling pathway [GO:0097411]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; neutrophil degranulation [GO:0043312]; oxidation-reduction process [GO:0055114]; positive regulation of angiogenesis [GO:0045766]; positive regulation of tumor necrosis factor biosynthetic process [GO:0042535]; regulation of ion transmembrane transport [GO:0034765]; respiratory burst [GO:0045730]; response to aldosterone [GO:1904044]; response to angiotensin [GO:1990776]; superoxide anion generation [GO:0042554]; superoxide metabolic process [GO:0006801]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]

snps:
rs151344455 rs151344453 rs151344479 rs151344456 rs151344480 rs151344481 rs151344457 rs151344488 rs137854591 rs137854594 rs151344458 rs137854590 rs151344497 rs151344491 rs151344493 rs151344496 rs151344459 rs151344482 rs137854587 rs151344460 rs151344462 rs151344460 rs151344463 rs151344464 rs151344483 rs151344494 rs151344498 rs151344465 rs137854589 rs137854589 rs137854595 rs137854596 rs151344489 rs151344466 rs151344467 rs151344468 rs151344469 rs151344484 rs151344470 rs151344495 rs151344485 rs151344471 rs141756032 rs137854586 rs137854586 rs151344472 rs151344474 rs151344473 rs137854585 rs137854585 rs151344486 rs151344475 rs151344476 rs13306300 rs137854593 rs151344490 rs151344477 rs151344487 rs151344452 rs151344478 rs151344454 rs151344492 

location:
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Note=As unassembled monomer may localize to the endoplasmic reticulum. {ECO:0000305|PubMed:28351984}.


uniprotID: Q6IAN0
geneSymbol: DHRS7B
length: 325
go: ENSG00000109016;
name:
Dehydrogenase/reductase SDR family member 7B (EC 1.1.-.-) (Short-chain dehydrogenase/reductase family 32C member 1)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; oxidoreductase activity [GO:0016491]; ether lipid biosynthetic process [GO:0008611]; macromolecule metabolic process [GO:0043170]; neutrophil differentiation [GO:0030223]

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


uniprotID: P49447
geneSymbol: CYB561
name: Cytochrome b561 (Cytochrome b-561)
length: 251
go: ENSG00000008283;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]; ferric-chelate reductase activity [GO:0000293]; metal ion binding [GO:0046872]; oxidoreductase activity [GO:0016491]; electron transport chain [GO:0022900]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P49447-1; Sequence=Displayed; Name=2; IsoId=P49447-2; Sequence=VSP_056950; Note=No experimental confirmation available.; 


uniprotID: Q9BQA9
geneSymbol: CYBC1
name: Cytochrome b-245 chaperone 1 (Essential for reactive oxygen species protein) (Eros)
length: 187
go: ENSG00000178927;
sequence:
MYLQVETRTSSRLHLKRAPGIRSWSLLVGILSIGLAAAYYSGDSLGWKLFYVTGCLFVAVQNLEDWEEAIFDKSTGKVVLKTFSLYKKLLTLFRAGHDQVVVLLHDVRDVSVEEEKVRYFGKGYMVVLRLATGFSHPLTQSAVMGHRSDVEAIAKLITSFLELHCLESPTELSQSSDSEAGDPASQS

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; innate immune response [GO:0045087]; respiratory burst after phagocytosis [GO:0045728]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BQA9-1; Sequence=Displayed; Name=2; IsoId=Q9BQA9-2; Sequence=VSP_046335; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:28351984}; Single-pass membrane protein {ECO:0000305}.


uniprotID: P13584
geneSymbol: CYP4B1
reactome: R-HSA-211935;R-HSA-211958;R-HSA-211979;R-HSA-2142691;
name: Cytochrome P450 4B1 (EC 1.14.14.1) (CYPIVB1) (Cytochrome P450-HP)
length: 511
go: ENSG00000142973;
drug: DB00683;DB01174;DB00152;
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; organelle membrane [GO:0031090]; aromatase activity [GO:0070330]; fluorene oxygenase activity [GO:0018585]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; monooxygenase activity [GO:0004497]; oxygen binding [GO:0019825]; toxic substance binding [GO:0015643]; biphenyl metabolic process [GO:0018879]; exogenous drug catabolic process [GO:0042738]; fluorene metabolic process [GO:0018917]

snps:
rs45559437 rs4646487 rs45446505 rs45578838 rs45467195 rs12094024 rs2297810 rs4646491 rs17102592 rs2297809 rs45622937 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P13584-1; Sequence=Displayed; Name=2; IsoId=P13584-2; Sequence=VSP_038419; 


uniprotID: Q68CJ9
geneSymbol: CREB3L3
reactome: R-HSA-8874211;R-HSA-8963889;
length: 461
go: ENSG00000060566;
name:
Cyclic AMP-responsive element-binding protein 3-like protein 3 (cAMP-responsive element-binding protein 3-like protein 3) (Transcription factor CREB-H) [Cleaved into: Processed cyclic AMP-responsive element-binding protein 3-like protein 3]

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cAMP response element binding [GO:0035497]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; endoplasmic reticulum unfolded protein response [GO:0030968]; positive regulation of acute inflammatory response [GO:0002675]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress [GO:1990440]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q68CJ9-1; Sequence=Displayed; Name=2; IsoId=Q68CJ9-2; Sequence=VSP_025637; Name=3; IsoId=Q68CJ9-4; Sequence=VSP_054876; Note=No experimental confirmation available.; Name=4; IsoId=Q68CJ9-5; Sequence=VSP_055635, VSP_055636; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:11353085}; Single-pass type II membrane protein {ECO:0000269|PubMed:11353085}.; SUBCELLULAR LOCATION: Processed cyclic AMP-responsive element-binding protein 3-like protein 3: Nucleus. Note=Under ER stress the cleaved N-terminal cytoplasmic domain translocates into the nucleus.


uniprotID: Q9UNS2
geneSymbol: COPS3
reactome: R-HSA-5696394;R-HSA-6781823;R-HSA-8856825;R-HSA-8951664;
pdb: 4D10;4D18;4WSN;
length: 423
go: ENSG00000141030;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9535219}. Nucleus {ECO:0000269|PubMed:9535219}.
name:
COP9 signalosome complex subunit 3 (SGN3) (Signalosome subunit 3) (JAB1-containing signalosome subunit 3)

sequence:

opentargets:
COP9 signalosome [GO:0008180]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; in utero embryonic development [GO:0001701]; nucleotide-excision repair, DNA damage recognition [GO:0000715]; post-translational protein modification [GO:0043687]; protein deneddylation [GO:0000338]; response to light stimulus [GO:0009416]; signal transduction [GO:0007165]; transcription-coupled nucleotide-excision repair [GO:0006283]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UNS2-1; Sequence=Displayed; Name=2; IsoId=Q9UNS2-2; Sequence=VSP_044271; 


uniprotID: Q96LI9
geneSymbol: CXorf58
name: Putative uncharacterized protein CXorf58
length: 332
go: ENSG00000165182;
snps: rs2707164 rs16982852
sequence:


uniprotID: A0A1B0GTR3
geneSymbol: CXorf51A
name: Uncharacterized protein CXorf51A
length: 108
go: ENSG00000224440;ENSG00000235699;
sequence:
MAKVTSEPQKPNEDVDEQTPSTSSTKGRKKGKTPRQRRSRSGVKGLKTTRKAKRPLRGSSSQKAGETNTPAGKPKKARGPILRGRYHRLKEKMKKEEADKEQSETSVL


uniprotID: Q8N2A0
geneSymbol: LINC00269
name: Putative uncharacterized protein encoded by LINC00269
length: 174
sequence:
MPKSLEIYKGSCNWEESGLLGSCFSQGLALLPRVEWSGAILAHCIVDLPSSSDPPTSASHFSGLQAHTTTARWSLTLLPRLECSGTISAHYNLRLLGSSNSPVSASQVAETTEACHHTRLIFVFSVETGFHHVGQAGLKLLTSGDPPASASQSAGITGVSHSARPKSCFLQLLG


uniprotID: A6NEN9
geneSymbol: CXorf65
name: Uncharacterized protein CXorf65
length: 183
go: ENSG00000204165;
snps: rs12009522
sequence:
MFIFIKHGDNQQFLVNTNCAVVVLLYYIRSKVKLPKTNTIDLCEQTGKMKMLFLMKPNHAEYASKYLTARSTYYVCKVERGPPGTRLENAYRAFVPLLKNPEPWLLVALRIQCDALERRRIQMLKMKEAKKVVIIEPPASVPSKQSGRSDKKKSTRKSPTFRNRPDFRKNKGRQLNKTTKQKK


uniprotID: Q8NBI2
geneSymbol: CYB561A3
length: 242
go: ENSG00000162144;
name:
Cytochrome b ascorbate-dependent protein 3 (EC 1.-.-.-) (Cytochrome b561 family member A3) (Lysosomal cytochrome b) (LCytb)

sequence:

opentargets:
integral component of membrane [GO:0016021]; late endosome membrane [GO:0031902]; lysosomal membrane [GO:0005765]; metal ion binding [GO:0046872]; oxidoreductase activity [GO:0016491]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NBI2-1; Sequence=Displayed; Name=2; IsoId=Q8NBI2-2; Sequence=VSP_047358; 

location:
SUBCELLULAR LOCATION: Late endosome membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Lysosome membrane {ECO:0000269|PubMed:17897319}; Multi-pass membrane protein {ECO:0000269|PubMed:17897319}.


uniprotID: P01036
geneSymbol: CST4
name: Cystatin-S (Cystatin-4) (Cystatin-SA-III) (Salivary acidic protein 1)
length: 141
go: ENSG00000101441;
snps: rs3210291
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:20189825}.
sequence:
MARPLCTLLLLMATLAGALASSSKEENRIIPGGIYDADLNDEWVQRALHFAISEYNKATEDEYYRRPLQVLRAREQTFGGVNYFFDVEVGRTICTKSQPNLDTCAFHEQPELQKKQLCSFEIYEVPWEDRMSLVNSRCQEA

opentargets:
extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; cysteine-type endopeptidase inhibitor activity [GO:0004869]; detection of chemical stimulus involved in sensory perception of bitter taste [GO:0001580]; negative regulation of proteolysis [GO:0045861]; retina homeostasis [GO:0001895]


uniprotID: Q30KQ7
geneSymbol: DEFB113
reactome: R-HSA-1461957;R-HSA-1461973;
name: Beta-defensin 113 (Beta-defensin 13) (DEFB-13) (Defensin, beta 113)
sequence: MKILCIFLTFVFTVSCGPSVPQKKTREVAERKRECQLVRGACKPECNSWEYVYYYCNVNPCCAVWEYQKPIINKITSKLHQK
length: 82
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
opentargets:
extracellular region [GO:0005576]; defense response to bacterium [GO:0042742]; innate immune response [GO:0045087]


uniprotID: Q9NYF0
geneSymbol: DACT1
reactome: R-HSA-4641258;
length: 836
go: ENSG00000165617;
snps: rs778976254 rs34015825 rs17832998 rs17094821 rs698025 rs1028180302 rs773720154
name:
Dapper homolog 1 (hDPR1) (Dapper antagonist of catenin 1) (Hepatocellular carcinoma novel gene 3 protein)

sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; synapse [GO:0045202]; beta-catenin binding [GO:0008013]; delta-catenin binding [GO:0070097]; histone deacetylase binding [GO:0042826]; protein kinase A binding [GO:0051018]; protein kinase C binding [GO:0005080]; RNA polymerase II transcription factor binding [GO:0001085]; embryonic hindgut morphogenesis [GO:0048619]; negative regulation of beta-catenin-TCF complex assembly [GO:1904864]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of G1/S transition of mitotic cell cycle [GO:2000134]; negative regulation of JNK cascade [GO:0046329]; negative regulation of protein binding [GO:0032091]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of Wnt signaling pathway [GO:0030178]; neural tube development [GO:0021915]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of cellular protein catabolic process [GO:1903364]; positive regulation of protein binding [GO:0032092]; positive regulation of protein catabolic process [GO:0045732]; positive regulation of Wnt signaling pathway [GO:0030177]; regulation of canonical Wnt signaling pathway [GO:0060828]; regulation of protein stability [GO:0031647]; regulation of Wnt signaling pathway [GO:0030111]; regulation of Wnt signaling pathway, planar cell polarity pathway [GO:2000095]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Alpha, Long; IsoId=Q9NYF0-1; Sequence=Displayed; Name=2; Synonyms=Beta, Short; IsoId=Q9NYF0-2; Sequence=VSP_044198; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Cell junction, synapse {ECO:0000250}. Note=Shuttles between the nucleus and the cytoplasm. Seems to be nuclear in the absence of Wnt signaling and to translocate to the cytoplasm in its presence.


uniprotID: P35663
geneSymbol: CYLC1
name: Cylicin-1 (Cylicin I) (Multiple-band polypeptide I)
length: 651
go: ENSG00000183035;
snps: rs12008888
sequence:

opentargets:
acrosomal matrix [GO:0043159]; cytoskeletal calyx [GO:0033150]; nucleus [GO:0005634]; structural constituent of cytoskeleton [GO:0005200]; structural molecule activity [GO:0005198]; cell differentiation [GO:0030154]; multicellular organism development [GO:0007275]; spermatogenesis [GO:0007283]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, perinuclear theca, calyx. Note=Sperm head cytoskeletal structure.


uniprotID: Q99418
geneSymbol: CYTH2
reactome: R-HSA-6811438;
pdb: 1PBV;1R8M;1R8Q;1R8S;1S9D;4JMI;4JMO;4JWL;4JXH;4L5M;4Z21;
length: 400
go: ENSG00000105443;
drug: DB01942;
name:
Cytohesin-2 (ARF exchange factor) (ARF nucleotide-binding site opener) (Protein ARNO) (PH, SEC7 and coiled-coil domain-containing protein 2)

sequence:

opentargets:
adherens junction [GO:0005912]; bicellular tight junction [GO:0005923]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi membrane [GO:0000139]; growth cone [GO:0030426]; membrane [GO:0016020]; plasma membrane [GO:0005886]; ARF guanyl-nucleotide exchange factor activity [GO:0005086]; inositol 1,4,5 trisphosphate binding [GO:0070679]; lipid binding [GO:0008289]; actin cytoskeleton organization [GO:0030036]; endocytosis [GO:0006897]; regulation of ARF protein signal transduction [GO:0032012]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q99418-1; Sequence=Displayed; Name=2; IsoId=Q99418-2; Sequence=VSP_006036; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17398095}; Peripheral membrane protein {ECO:0000269|PubMed:17398095}. Cytoplasm {ECO:0000269|PubMed:17398095}. Cell projection {ECO:0000250|UniProtKB:P63034}. Cell projection, growth cone {ECO:0000250|UniProtKB:P63034}. Cell junction, tight junction {ECO:0000250|UniProtKB:P63034}. Cell junction, adherens junction {ECO:0000250|UniProtKB:P63034}. Note=Both isoform 1 and isoform 2 are recruited to the cell membrane through its association with ARL4A, ARL4C and ARL4D. They require also interaction with phosphoinositides for targeting to plasma membrane (PubMed:17398095). In differentiating neuroblastoma cells, colocalizes with CCDC120 in both neurite shaft and growth cone areas. {ECO:0000250|UniProtKB:P63034, ECO:0000269|PubMed:17398095}.


uniprotID: Q69YQ0
geneSymbol: SPECC1L
length: 1117
snps: rs142144652 rs204710 rs5760340 rs6004132 rs11704759 rs204718
name:
Cytospin-A (Renal carcinoma antigen NY-REN-22) (Sperm antigen with calponin homology and coiled-coil domains 1-like) (SPECC1-like protein)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytosol [GO:0005829]; filamentous actin [GO:0031941]; gap junction [GO:0005921]; microtubule organizing center [GO:0005815]; spindle [GO:0005819]; actin cytoskeleton organization [GO:0030036]; cell adhesion [GO:0007155]; cell cycle [GO:0007049]; cell division [GO:0051301]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q69YQ0-1; Sequence=Displayed; Name=2; IsoId=Q69YQ0-2; Sequence=VSP_047359; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:21703590}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:21703590}. Cell junction, gap junction {ECO:0000269|PubMed:21703590}. Note=Colocalizes with acetylated alpha-tubulin, gamma-tubulin and F-actin. Also observed in a ring around gamma-tubulin containing centrioles possibly in the microtubule organizing center.


uniprotID: Q9UHY7
geneSymbol: ENOPH1
reactome: R-HSA-1237112;
pdb: 1YNS;1ZS9;
length: 261
go: ENSG00000145293;
drug: DB07912;
name:
Enolase-phosphatase E1 (EC 3.1.3.77) (2,3-diketo-5-methylthio-1-phosphopentane phosphatase) (MASA homolog)

sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; 2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity [GO:0043715]; 2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity [GO:0043716]; acireductone synthase activity [GO:0043874]; magnesium ion binding [GO:0000287]; L-methionine salvage from methylthioadenosine [GO:0019509]; L-methionine salvage from S-adenosylmethionine [GO:0019284]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UHY7-1; Sequence=Displayed; Name=2; IsoId=Q9UHY7-2; Sequence=VSP_021160; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03117}. Nucleus {ECO:0000255|HAMAP-Rule:MF_03117}.


uniprotID: Q6NUT2
geneSymbol: DPY19L2
length: 758
go: ENSG00000177990;
snps: rs10878075 rs10878074 rs10878073 rs12314553
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Probable C-mannosyltransferase DPY19L2 (EC 2.4.1.-) (Dpy-19-like protein 2) (Protein dpy-19 homolog 2)

sequence:

opentargets:
integral component of membrane [GO:0016021]; nuclear inner membrane [GO:0005637]; nucleus [GO:0005634]; mannosyltransferase activity [GO:0000030]; multicellular organism development [GO:0007275]; protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan [GO:0018406]; spermatid development [GO:0007286]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6NUT2-1; Sequence=Displayed; Name=2; IsoId=Q6NUT2-2; Sequence=VSP_056136; Note=No experimental confirmation available.; 


uniprotID: Q6ZPD9
geneSymbol: DPY19L3
length: 716
go: ENSG00000178904;
snps: rs8105178
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Probable C-mannosyltransferase DPY19L3 (EC 2.4.1.-) (Dpy-19-like protein 3) (Protein dpy-19 homolog 3)

sequence:

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

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZPD9-1; Sequence=Displayed; Name=2; IsoId=Q6ZPD9-2; Sequence=VSP_029634, VSP_029635; 


uniprotID: Q14118
geneSymbol: DAG1
reactome: R-HSA-3000171;R-HSA-3000178;R-HSA-5083628;R-HSA-5083629;R-HSA-5083633;R-HSA-5173105;R-HSA-9010553;
pdb: 1EG4;2MK7;5GGP;5LLK;
length: 895
go: ENSG00000173402;
snps: rs2131107 rs189360006 rs117209107 rs193922955 rs797045023
name:
Dystroglycan (Dystrophin-associated glycoprotein 1) [Cleaved into: Alpha-dystroglycan (Alpha-DG); Beta-dystroglycan (Beta-DG)]

sequence:

opentargets:
basement membrane [GO:0005604]; basolateral plasma membrane [GO:0016323]; cell-cell adherens junction [GO:0005913]; collagen-containing extracellular matrix [GO:0062023]; contractile ring [GO:0070938]; costamere [GO:0043034]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; dystroglycan complex [GO:0016011]; dystrophin-associated glycoprotein complex [GO:0016010]; endoplasmic reticulum lumen [GO:0005788]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; filopodium [GO:0030175]; focal adhesion [GO:0005925]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; Golgi lumen [GO:0005796]; integral component of membrane [GO:0016021]; lamellipodium [GO:0030027]; node of Ranvier [GO:0033268]; nuclear periphery [GO:0034399]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; plasma membrane raft [GO:0044853]; postsynaptic cytosol [GO:0099524]; postsynaptic membrane [GO:0045211]; sarcolemma [GO:0042383]; actin binding [GO:0003779]; alpha-actinin binding [GO:0051393]; calcium ion binding [GO:0005509]; dystroglycan binding [GO:0002162]; laminin-1 binding [GO:0043237]; SH2 domain binding [GO:0042169]; structural constituent of muscle [GO:0008307]; tubulin binding [GO:0015631]; vinculin binding [GO:0017166]; virus receptor activity [GO:0001618]; aging [GO:0007568]; angiogenesis involved in wound healing [GO:0060055]; axon regeneration [GO:0031103]; basement membrane organization [GO:0071711]; branching involved in salivary gland morphogenesis [GO:0060445]; calcium-dependent cell-matrix adhesion [GO:0016340]; cellular response to cholesterol [GO:0071397]; cellular response to mechanical stimulus [GO:0071260]; commissural neuron axon guidance [GO:0071679]; cytoskeletal anchoring at plasma membrane [GO:0007016]; epithelial tube branching involved in lung morphogenesis [GO:0060441]; extracellular matrix organization [GO:0030198]; membrane protein ectodomain proteolysis [GO:0006509]; microtubule anchoring [GO:0034453]; modulation by virus of host morphology or physiology [GO:0019048]; morphogenesis of an epithelial sheet [GO:0002011]; myelination in peripheral nervous system [GO:0022011]; negative regulation of cell migration [GO:0030336]; negative regulation of MAPK cascade [GO:0043409]; negative regulation of protein kinase B signaling [GO:0051898]; nerve maturation [GO:0021682]; positive regulation of basement membrane assembly involved in embryonic body morphogenesis [GO:1904261]; positive regulation of cell-matrix adhesion [GO:0001954]; positive regulation of myelination [GO:0031643]; positive regulation of oligodendrocyte differentiation [GO:0048714]; positive regulation of protein kinase activity [GO:0045860]; regulation of embryonic cell shape [GO:0016476]; regulation of epithelial to mesenchymal transition [GO:0010717]; regulation of gastrulation [GO:0010470]; regulation of neurotransmitter receptor localization to postsynaptic specialization membrane [GO:0098696]; regulation of synapse organization [GO:0050807]; response to denervation involved in regulation of muscle adaptation [GO:0014894]; response to peptide hormone [GO:0043434]; retrograde trans-synaptic signaling by trans-synaptic protein complex [GO:0098942]; skeletal muscle tissue regeneration [GO:0043403]

location:
SUBCELLULAR LOCATION: Alpha-dystroglycan: Secreted, extracellular space.; SUBCELLULAR LOCATION: Beta-dystroglycan: Cell membrane; Single-pass type I membrane protein. Cytoplasm, cytoskeleton. Nucleus, nucleoplasm. Cell membrane, sarcolemma {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}. Note=The monomeric form translocates to the nucleus via the action of importins and depends on RAN. Nuclear transport is inhibited by Tyr-892 phosphorylation. In skeletal muscle, this phosphorylated form locates to a vesicular internal membrane compartment. In muscle cells, sarcolemma localization requires the presence of ANK2, while localization to costameres requires the presence of ANK3. Localizes to neuromuscular junctions (NMJs) in the presence of ANK2 (By similarity). In peripheral nerves, localizes to the Schwann cell membrane. Colocalizes with ERM proteins in Schwann-cell microvilli. {ECO:0000250}.


uniprotID: Q96NX9
geneSymbol: DACH2
name: Dachshund homolog 2 (Dach2)
length: 599
go: ENSG00000126733;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; transcription factor activity, RNA polymerase II core promoter sequence-specific binding involved in preinitiation complex assembly [GO:0001075]; development of primary female sexual characteristics [GO:0046545]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96NX9-1; Sequence=Displayed; Name=2; IsoId=Q96NX9-2; Sequence=VSP_009490, VSP_009491; Name=3; IsoId=Q96NX9-3; Sequence=VSP_009492; Note=No experimental confirmation available.; Name=4; IsoId=Q96NX9-4; Sequence=VSP_044275; 


uniprotID: P09228
geneSymbol: CST2
name: Cystatin-SA (Cystatin-2) (Cystatin-S5)
length: 141
go: ENSG00000170369;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:20189825}.
sequence:
MAWPLCTLLLLLATQAVALAWSPQEEDRIIEGGIYDADLNDERVQRALHFVISEYNKATEDEYYRRLLRVLRAREQIVGGVNYFFDIEVGRTICTKSQPNLDTCAFHEQPELQKKQLCSFQIYEVPWEDRMSLVNSRCQEA

opentargets:
extracellular space [GO:0005615]; cysteine-type endopeptidase inhibitor activity [GO:0004869]; detection of chemical stimulus involved in sensory perception of bitter taste [GO:0001580]


uniprotID: Q7L576
geneSymbol: CYFIP1
reactome: R-HSA-2029482;R-HSA-4420097;R-HSA-5663213;R-HSA-6798695;
pdb: 3P8C;4N78;
name: Cytoplasmic FMR1-interacting protein 1 (Specifically Rac1-associated protein 1) (Sra-1) (p140sra-1)
length: 1253
go: ENSG00000273749;
snps: rs34683919 rs17137190 rs7170637
sequence:

opentargets:
axonal growth cone [GO:0044295]; central region of growth cone [GO:0090724]; cytosol [GO:0005829]; dendritic growth cone [GO:0044294]; dendritic spine [GO:0043197]; excitatory synapse [GO:0060076]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; filopodium tip [GO:0032433]; focal adhesion [GO:0005925]; lamellipodium [GO:0030027]; mRNA cap binding complex [GO:0005845]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; perinuclear region of cytoplasm [GO:0048471]; peripheral region of growth cone [GO:0090725]; ruffle [GO:0001726]; SCAR complex [GO:0031209]; secretory granule lumen [GO:0034774]; specific granule lumen [GO:0035580]; synapse [GO:0045202]; terminal bouton [GO:0043195]; tertiary granule lumen [GO:1904724]; actin filament binding [GO:0051015]; protein-containing complex binding [GO:0044877]; Rac GTPase binding [GO:0048365]; RNA 7-methylguanosine cap binding [GO:0000340]; translation regulator activity [GO:0045182]; axon extension [GO:0048675]; axon guidance [GO:0007411]; cell morphogenesis [GO:0000902]; cell projection assembly [GO:0030031]; cellular response to insulin stimulus [GO:0032869]; cognition [GO:0050890]; dendrite extension [GO:0097484]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; lamellipodium assembly [GO:0030032]; modification of synaptic structure [GO:0099563]; negative regulation of synaptic vesicle recycling [GO:1903422]; neutrophil degranulation [GO:0043312]; positive regulation of Arp2/3 complex-mediated actin nucleation [GO:2000601]; positive regulation of axon extension [GO:0045773]; positive regulation of dendrite development [GO:1900006]; positive regulation of neurotrophin TRK receptor signaling pathway [GO:0051388]; positive regulation of ruffle assembly [GO:1900029]; Rac protein signal transduction [GO:0016601]; regulation of cell shape [GO:0008360]; regulation of modification of postsynaptic actin cytoskeleton [GO:1905274]; regulation of translation [GO:0006417]; regulation of translation at postsynapse, modulating synaptic transmission [GO:0099578]; response to electrical stimulus [GO:0051602]; ruffle organization [GO:0031529]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=3; IsoId=Q7L576-1; Sequence=Displayed; Name=2; Synonyms=4; IsoId=Q7L576-2; Sequence=VSP_052346, VSP_052347; Name=3; Synonyms=5; IsoId=Q7L576-3; Sequence=VSP_052345; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q7TMB8}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:Q7TMB8}. Cell projection, lamellipodium {ECO:0000250|UniProtKB:Q7TMB8}. Cell projection, ruffle {ECO:0000250|UniProtKB:Q7TMB8}. Cell junction, synapse, synaptosome {ECO:0000250|UniProtKB:Q7TMB8}. Note=Highly expressed in the perinuclear region (By similarity). Enriched in synaptosomes (By similarity). Also enriched in membrane ruffles and at the tips of lamellipodia (By similarity). {ECO:0000250|UniProtKB:Q7TMB8}.


uniprotID: Q8WUS8
geneSymbol: SDR42E1
name: Short-chain dehydrogenase/reductase family 42E member 1 (EC 1.1.1.-)
length: 393
go: ENSG00000184860;
snps: rs6564956 rs16956174 rs3813012
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; 3-beta-hydroxy-delta5-steroid dehydrogenase activity [GO:0003854]; oxidoreductase activity [GO:0016491]; oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor [GO:0016616]; steroid biosynthetic process [GO:0006694]


uniprotID: A0A096LNP1
geneSymbol: DEFB131B
name: Beta-defensin 131B (Defensin, beta 131)
sequence: MRVLFFVFGVLSLMSTVPPTRSFTSNDECPSEYYHCRLKCNADEHAIRYCADFSICCKLKIIQIDGQKKW
length: 70
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
opentargets:
extracellular space [GO:0005615]; defense response to bacterium [GO:0042742]; innate immune response [GO:0045087]


uniprotID: Q58WW2
geneSymbol: DCAF6
reactome: R-HSA-8951664;
pdb: 3I7O;
length: 860
go: ENSG00000143164;
snps: rs11558511
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15784617}.
name:
DDB1- and CUL4-associated factor 6 (Androgen receptor complex-associated protein) (ARCAP) (IQ motif and WD repeat-containing protein 1) (Nuclear receptor interaction protein) (NRIP)

sequence:

opentargets:
Cul4-RING E3 ubiquitin ligase complex [GO:0080008]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; nuclear receptor transcription coactivator activity [GO:0030374]; positive regulation of transcription by RNA polymerase II [GO:0045944]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q58WW2-1; Sequence=Displayed; Name=2; IsoId=Q58WW2-2; Sequence=VSP_028019; Note=No experimental confirmation available.; Name=3; IsoId=Q58WW2-3; Sequence=VSP_028020, VSP_028021; Name=4; IsoId=Q58WW2-4; Sequence=VSP_043312, VSP_028020, VSP_028021; Note=No experimental confirmation available.; 


uniprotID: P61962
geneSymbol: DCAF7
reactome: R-HSA-390471;R-HSA-8951664;
length: 342
go: ENSG00000136485;
name:
DDB1- and CUL4-associated factor 7 (WD repeat-containing protein 68) (WD repeat-containing protein An11 homolog)

sequence:

opentargets:
Cul4-RING E3 ubiquitin ligase complex [GO:0080008]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear body [GO:0016604]; nuclear matrix [GO:0016363]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; multicellular organism development [GO:0007275]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P61962-1; Sequence=Displayed; Name=2; IsoId=P61962-2; Sequence=VSP_054015; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Overexpression of DIAHP1 or active RHOA causes translocation from the nucleus to cytoplasm.


uniprotID: Q8TF09
geneSymbol: DYNLRB2
reactome: R-HSA-5620924;
sequence: MAEVEETLKRIQSHKGVIGTMVVNAEGIPIRTTLDNSTTVQYAGLLHHLTMKAKSTVRDIDPQNDLTFLRIRSKKHEIMVAPDKEYLLIVIQNPCE
length: 96
go: ENSG00000168589;
snps: rs13332289
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
name:
Dynein light chain roadblock-type 2 (Dynein light chain 2B, cytoplasmic) (Roadblock domain-containing protein 2)

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


uniprotID: Q9Y222
geneSymbol: DMTF1
pdb: 2LLK;
length: 760
go: ENSG00000135164;
snps: rs1558049
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00625, ECO:0000269|PubMed:17936562}.
name:
Cyclin-D-binding Myb-like transcription factor 1 (hDMTF1) (Cyclin-D-interacting Myb-like protein 1) (hDMP1)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; 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 polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; cell cycle [GO:0007049]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=Alpha; IsoId=Q9Y222-1; Sequence=Displayed; Name=2; Synonyms=Beta; IsoId=Q9Y222-2; Sequence=VSP_032091, VSP_032092; Name=3; Synonyms=Gamma; IsoId=Q9Y222-3; Sequence=VSP_032090, VSP_032093; Name=4; IsoId=Q9Y222-4; Sequence=VSP_032089, VSP_032090, VSP_032093; Name=5; IsoId=Q9Y222-5; Sequence=VSP_041063; 


uniprotID: Q09013
geneSymbol: DMPK
reactome: R-HSA-5578775;
pdb: 1WT6;2VD5;
length: 629
go: ENSG00000104936;
snps: rs527221
name:
Myotonin-protein kinase (MT-PK) (EC 2.7.11.1) (DM-kinase) (DMK) (DM1 protein kinase) (DMPK) (Myotonic dystrophy protein kinase)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; integral component of mitochondrial outer membrane [GO:0031307]; nuclear membrane [GO:0031965]; nuclear outer membrane [GO:0005640]; plasma membrane [GO:0005886]; sarcoplasmic reticulum membrane [GO:0033017]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; myosin phosphatase regulator activity [GO:0017020]; protein serine/threonine kinase activity [GO:0004674]; cellular calcium ion homeostasis [GO:0006874]; intracellular signal transduction [GO:0035556]; muscle cell apoptotic process [GO:0010657]; nuclear envelope organization [GO:0006998]; peptidyl-serine phosphorylation [GO:0018105]; protein phosphorylation [GO:0006468]; regulation of cardiac conduction [GO:1903779]; regulation of heart contraction [GO:0008016]; regulation of myotube differentiation [GO:0010830]; regulation of skeletal muscle contraction by calcium ion signaling [GO:0014722]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=12;  Name=1; Synonyms=DMPK A; IsoId=Q09013-9; Sequence=Displayed; Name=2; Synonyms=DMPK B; IsoId=Q09013-11; Sequence=VSP_042101; Name=3; Synonyms=DMPK C; IsoId=Q09013-16; Sequence=VSP_042104; Note=No experimental confirmation available.; Name=4; Synonyms=DMPK D; IsoId=Q09013-15; Sequence=VSP_042101, VSP_042104; Name=5; Synonyms=DMPK E; IsoId=Q09013-10; Sequence=VSP_042102, VSP_042103; Note=No experimental confirmation available.; Name=6; Synonyms=DMPK F; IsoId=Q09013-12; Sequence=VSP_042101, VSP_042102, VSP_042103; Note=No experimental confirmation available.; Name=7; IsoId=Q09013-1; Sequence=VSP_042099; Name=8; IsoId=Q09013-2; Sequence=VSP_042098; Note=No experimental confirmation available.; Name=9; IsoId=Q09013-5; Sequence=VSP_042099, VSP_042100; Note=No experimental confirmation available.; Name=10; IsoId=Q09013-6; Sequence=VSP_042099, VSP_042101; Note=No experimental confirmation available.; Name=11; IsoId=Q09013-7; Sequence=VSP_042099, VSP_042105; Note=No experimental confirmation available.; Name=12; IsoId=Q09013-8; Sequence=VSP_042099, VSP_042102, VSP_042103; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250}; Single-pass type IV membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Nucleus outer membrane {ECO:0000305}; Single-pass type IV membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Mitochondrion outer membrane {ECO:0000305}; Single-pass type IV membrane protein {ECO:0000305}. Sarcoplasmic reticulum membrane {ECO:0000250}. Cell membrane {ECO:0000250}. Cytoplasm, cytosol {ECO:0000250}. Note=Localizes to sarcoplasmic reticulum membranes of cardiomyocytes. {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 1: Mitochondrion membrane.; SUBCELLULAR LOCATION: Isoform 3: Mitochondrion membrane.


uniprotID: Q09019
geneSymbol: DMWD
length: 674
go: ENSG00000185800;
opentargets: dendrite [GO:0030425]; nucleus [GO:0005634]; perikaryon [GO:0043204]
name:
Dystrophia myotonica WD repeat-containing protein (Dystrophia myotonica-containing WD repeat motif protein) (Protein 59) (Protein DMR-N9)

sequence:

location:
SUBCELLULAR LOCATION: Perikaryon {ECO:0000250|UniProtKB:Q08274}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q08274}. Nucleus {ECO:0000250|UniProtKB:Q08274}. Note=In neurons, shows punctate expression throughout the cell body, nucleus and dendrites. Not detected in axons. {ECO:0000250|UniProtKB:Q08274}.


uniprotID: Q9Y5R5
geneSymbol: DMRT2
name: Doublesex- and mab-3-related transcription factor 2 (Doublesex-like 2 protein) (DSXL-2)
length: 561
go: ENSG00000173253;
snps: rs3824419 rs17641078
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00070}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; protein homodimerization activity [GO:0042803]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; embryonic skeletal system development [GO:0048706]; positive regulation of myotome development [GO:2000287]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of somitogenesis [GO:0014807]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y5R5-1; Sequence=Displayed; Name=2; IsoId=Q9Y5R5-2; Sequence=VSP_041248, VSP_041249; Note=Produced by DMRT2 bicistronic transcripts (AF284223/AF284224) from non-overlapping reading frame, according to PubMed:10729224.; Name=3; IsoId=Q9Y5R5-3; Sequence=VSP_041247; Note=Produced by DMRT2 bicistronic transcripts (AF284223/AF284224) from non-overlapping reading frame, according to PubMed:10729224.; 


uniprotID: Q03468
geneSymbol: ERCC6
reactome: R-HSA-427389;R-HSA-5250924;R-HSA-6781823;R-HSA-6781827;R-HSA-6782135;R-HSA-6782210;R-HSA-73762;
pdb: 4CVO;
length: 1493
go: ENSG00000225830;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16128801}.
name:
DNA excision repair protein ERCC-6 (EC 3.6.4.-) (ATP-dependent helicase ERCC6) (Cockayne syndrome protein CSB)

sequence:

opentargets:
nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription elongation factor complex [GO:0008023]; ATP binding [GO:0005524]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA-dependent ATPase activity [GO:0008094]; helicase activity [GO:0004386]; protein C-terminus binding [GO:0008022]; protein N-terminus binding [GO:0047485]; protein tyrosine kinase activator activity [GO:0030296]; protein-containing complex binding [GO:0044877]; RNA polymerase binding [GO:0070063]; activation of JNKK activity [GO:0007256]; activation of JUN kinase activity [GO:0007257]; base-excision repair [GO:0006284]; DNA duplex unwinding [GO:0032508]; DNA repair [GO:0006281]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; multicellular organism growth [GO:0035264]; photoreceptor cell maintenance [GO:0045494]; positive regulation of DNA-templated transcription, elongation [GO:0032786]; positive regulation of gene expression, epigenetic [GO:0045815]; pyrimidine dimer repair [GO:0006290]; regulation of DNA-templated transcription, elongation [GO:0032784]; response to gamma radiation [GO:0010332]; response to oxidative stress [GO:0006979]; response to superoxide [GO:0000303]; response to toxic substance [GO:0009636]; response to UV [GO:0009411]; response to UV-B [GO:0010224]; response to X-ray [GO:0010165]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase I promoter [GO:0006362]; transcription-coupled nucleotide-excision repair [GO:0006283]

snps:
rs148095899 rs2228528 rs4253046 rs4253047 rs202080674 rs751292948 rs1026438103 rs368728467 rs2228525 rs121917905 rs4253206 rs4253208 rs2228526 rs2228527 rs34704611 rs4253211 rs2229761 rs4253219 rs34917815 rs4253227 rs4253228 rs4253229 rs2228529 rs4253230 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=CSB {ECO:0000303|PubMed:18369450}; IsoId=Q03468-1; Sequence=Displayed; Name=CSB-PGBD3 {ECO:0000303|PubMed:18369450}; IsoId=P0DP91-1, Q03468-2; Sequence=External; Note=Produced by an alternative splicing event that joins the first 5 exons of ERCC6 gene in frame to the entire PGBD3 coding region, which is located within ERCC6 intron 5. The resulting chimeric protein consists of the N-terminal 465 residues of ERCC6 tethered to the entire PGBD3 sequence. {ECO:0000269|PubMed:18369450}; 


