# annotation

uniprotID: Q53TS8
geneSymbol: C2CD6
length: 623
go: ENSG00000155754;
snps: rs10804117
name:
C2 calcium-dependent domain-containing protein 6 (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 11 protein)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q53TS8-1; Sequence=Displayed; Name=2; IsoId=Q53TS8-2; Sequence=VSP_016788, VSP_016789; Note=No experimental confirmation available.; Name=3; IsoId=Q53TS8-3; Sequence=VSP_045400, VSP_045402; Note=No experimental confirmation available.; Name=4; IsoId=Q53TS8-4; Sequence=VSP_045401; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: Q6P1N0
geneSymbol: CC2D1A
length: 951
go: ENSG00000132024;
snps: rs11883041 rs2290663 rs2305777
name:
Coiled-coil and C2 domain-containing protein 1A (Akt kinase-interacting protein 1) (Five prime repressor element under dual repression-binding protein 1) (FRE under dual repression-binding protein 1) (Freud-1) (Putative NF-kappa-B-activating protein 023N)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; fibrillar center [GO:0001650]; membrane [GO:0016020]; microtubule organizing center [GO:0005815]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; cadherin binding [GO:0045296]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6P1N0-1; Sequence=Displayed; Name=2; IsoId=Q6P1N0-2; Sequence=VSP_019242; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16033914}. Nucleus {ECO:0000250|UniProtKB:Q66HA5}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000303|PubMed:20171170}.


uniprotID: Q5JVX7
geneSymbol: C1orf141
name: Uncharacterized protein C1orf141
length: 400
go: ENSG00000203963;
snps: rs2273682 rs11208997
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5JVX7-1; Sequence=Displayed; Name=2; IsoId=Q5JVX7-2; Sequence=VSP_026643, VSP_026644; Note=No experimental confirmation available.; 


uniprotID: Q8NC38
geneSymbol: ZNF436-AS1
length: 126
name:
Putative uncharacterized protein ZNF436-AS1 (ZNF436 antisense RNA 1) (ZNF436 antisense gene protein 1)

sequence:
MLAVPVRLKVGSRKPEWGTNRLTSCPAKDPLDRRLQNLRDRERVPEPQRSLRPGVQEDSREHGQVPEVSDPQVDLEFVDLQAKPRYRRLILKTQIPEASDSQAAQKPQAHRQIPETTEAGRETTSN


uniprotID: Q8N1I8
geneSymbol: CACTIN-AS1
name: Putative uncharacterized protein encoded by CACTIN-AS1 (Cactin antisense RNA 1)
length: 211
sequence:


uniprotID: Q8N9H9
geneSymbol: C1orf127
name: Uncharacterized protein C1orf127
length: 656
opentargets: heart development [GO:0007507]
snps: rs1281012 rs1281016 rs1281018
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N9H9-1; Sequence=Displayed; Name=2; IsoId=Q8N9H9-2; Sequence=VSP_024543, VSP_024544; Note=No experimental confirmation available.; 


uniprotID: Q5T5Y3
geneSymbol: CAMSAP1
pdb: 5M54;5M5C;
name: Calmodulin-regulated spectrin-associated protein 1
length: 1602
go: ENSG00000130559;
snps: rs35639321
sequence:

opentargets:
cytoplasm [GO:0005737]; microtubule [GO:0005874]; calmodulin binding [GO:0005516]; microtubule binding [GO:0008017]; microtubule minus-end binding [GO:0051011]; spectrin binding [GO:0030507]; cytoplasmic microtubule organization [GO:0031122]; cytoskeleton organization [GO:0007010]; microtubule cytoskeleton organization [GO:0000226]; negative regulation of microtubule depolymerization [GO:0007026]; neuron projection development [GO:0031175]; regulation of cell morphogenesis [GO:0022604]; regulation of microtubule polymerization [GO:0031113]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5T5Y3-1; Sequence=Displayed; Name=2; IsoId=Q5T5Y3-2; Sequence=VSP_030800; Note=No experimental confirmation available.; Name=3; IsoId=Q5T5Y3-3; Sequence=VSP_030801; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:19508979}. Note=Associates with the minus-end of microtubules (PubMed:24486153, PubMed:24706919). In contrast to CAMSAP2 and CAMSAP3, does not form stretches of decorated microtubule minus-ends (PubMed:24486153, PubMed:24706919). {ECO:0000269|PubMed:19508979, ECO:0000269|PubMed:24486153, ECO:0000269|PubMed:24706919}.


uniprotID: P49913
geneSymbol: CAMP
reactome: R-HSA-6798695;R-HSA-6803157;
pdb: 2FBS;2FBU;2FCG;2K6O;2LMF;2NA3;4EYC;5NMN;5NNK;5NNM;5NNT;5XNG;5XRX;6BIV;6BIX;
length: 170
drug: DB02345;
location: SUBCELLULAR LOCATION: Secreted.
name:
Cathelicidin antimicrobial peptide (18 kDa cationic antimicrobial protein) (CAP-18) (hCAP-18) [Cleaved into: Antibacterial peptide FALL-39 (FALL-39 peptide antibiotic); Antibacterial peptide LL-37]

sequence:
MKTQRDGHSLGRWSLVLLLLGLVMPLAIIAQVLSYKEAVLRAIDGINQRSSDANLYRLLDLDPRPTMDGDPDTPKPVSFTVKETVCPRTTQQSPEDCDFKKDGLVKRCMGTVTLNQARGSFDISCDKDNKRFALLGDFFRKSKEKIGKEFKRIVQRIKDFLRNLVPRTES

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; specific granule [GO:0042581]; specific granule lumen [GO:0035580]; tertiary granule lumen [GO:1904724]; lipopolysaccharide binding [GO:0001530]; antibacterial humoral response [GO:0019731]; antifungal humoral response [GO:0019732]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; antimicrobial humoral response [GO:0019730]; chronic inflammatory response [GO:0002544]; cytolysis by host of symbiont cells [GO:0051838]; defense response to bacterium [GO:0042742]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; innate immune response [GO:0045087]; innate immune response in mucosa [GO:0002227]; killing by host of symbiont cells [GO:0051873]; modification of morphology or physiology of other organism [GO:0035821]; negative regulation of growth of symbiont on or near host surface [GO:0044140]; neutrophil degranulation [GO:0043312]; positive regulation of interleukin-8 secretion [GO:2000484]; response to yeast [GO:0001878]


uniprotID: P36894
geneSymbol: BMPR1A
reactome: R-HSA-201451;
pdb: 1ES7;1REW;2GOO;2H62;2H64;2K3G;2QJ9;2QJA;2QJB;3NH7;3QB4;
length: 532
go: ENSG00000107779;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Bone morphogenetic protein receptor type-1A (BMP type-1A receptor) (BMPR-1A) (EC 2.7.11.30) (Activin receptor-like kinase 3) (ALK-3) (Serine/threonine-protein kinase receptor R5) (SKR5) (CD antigen CD292)

sequence:

opentargets:
dendrite [GO:0030425]; external side of plasma membrane [GO:0009897]; HFE-transferrin receptor complex [GO:1990712]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; ATP binding [GO:0005524]; BMP receptor activity [GO:0098821]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; growth factor binding [GO:0019838]; metal ion binding [GO:0046872]; protein homodimerization activity [GO:0042803]; protein serine/threonine kinase activity [GO:0004674]; SMAD binding [GO:0046332]; transforming growth factor beta receptor activity, type I [GO:0005025]; transforming growth factor beta-activated receptor activity [GO:0005024]; transmembrane receptor protein serine/threonine kinase activity [GO:0004675]; BMP signaling pathway [GO:0030509]; BMP signaling pathway involved in heart development [GO:0061312]; cardiac conduction system development [GO:0003161]; cardiac right ventricle morphogenesis [GO:0003215]; cellular response to BMP stimulus [GO:0071773]; chondrocyte differentiation [GO:0002062]; developmental growth [GO:0048589]; dorsal aorta morphogenesis [GO:0035912]; dorsal/ventral axis specification [GO:0009950]; ectoderm development [GO:0007398]; embryonic digit morphogenesis [GO:0042733]; embryonic organ development [GO:0048568]; endocardial cushion formation [GO:0003272]; endocardial cushion morphogenesis [GO:0003203]; fibrous ring of heart morphogenesis [GO:1905285]; heart formation [GO:0060914]; hindlimb morphogenesis [GO:0035137]; immune response [GO:0006955]; in utero embryonic development [GO:0001701]; lateral mesoderm development [GO:0048368]; lung development [GO:0030324]; mesendoderm development [GO:0048382]; mesoderm formation [GO:0001707]; mitral valve morphogenesis [GO:0003183]; Mullerian duct regression [GO:0001880]; negative regulation of neurogenesis [GO:0050768]; negative regulation of smooth muscle cell migration [GO:0014912]; neural crest cell development [GO:0014032]; neural plate mediolateral regionalization [GO:0021998]; odontogenesis of dentin-containing tooth [GO:0042475]; outflow tract morphogenesis [GO:0003151]; outflow tract septum morphogenesis [GO:0003148]; paraxial mesoderm structural organization [GO:0048352]; pattern specification process [GO:0007389]; pharyngeal arch artery morphogenesis [GO:0061626]; pituitary gland development [GO:0021983]; positive regulation of bone mineralization [GO:0030501]; positive regulation of cardiac muscle cell proliferation [GO:0060045]; positive regulation of cardiac ventricle development [GO:1904414]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of mesenchymal cell proliferation [GO:0002053]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; positive regulation of pri-miRNA transcription by RNA polymerase II [GO:1902895]; positive regulation of SMAD protein signal transduction [GO:0060391]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of vascular smooth muscle cell proliferation [GO:1904707]; protein phosphorylation [GO:0006468]; regulation of cardiac muscle cell proliferation [GO:0060043]; regulation of cellular senescence [GO:2000772]; regulation of lateral mesodermal cell fate specification [GO:0048378]; roof of mouth development [GO:0060021]; somitogenesis [GO:0001756]; stem cell population maintenance [GO:0019827]; transforming growth factor beta receptor signaling pathway [GO:0007179]; tricuspid valve morphogenesis [GO:0003186]; ventricular compact myocardium morphogenesis [GO:0003223]; ventricular trabecula myocardium morphogenesis [GO:0003222]

snps:
rs11528010 rs199476087 rs1131691168 rs199476086 rs199476088 rs35619497 rs55932635 rs758309022 rs199476089 rs752802257 


uniprotID: Q6ZN30
geneSymbol: BNC2
name: Zinc finger protein basonuclin-2
length: 1099
go: ENSG00000173068;
snps: rs4961490 rs3739714
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15081112}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; endochondral bone growth [GO:0003416]; mesenchyme development [GO:0060485]; roof of mouth development [GO:0060021]; tongue development [GO:0043586]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:15081112}; IsoId=Q6ZN30-1; Sequence=Displayed; Name=2 {ECO:0000305}; IsoId=Q6ZN30-2; Sequence=VSP_051873, VSP_051874; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: O00238
geneSymbol: BMPR1B
reactome: R-HSA-201451;
pdb: 3MDY;
length: 502
go: ENSG00000138696;
name:
Bone morphogenetic protein receptor type-1B (BMP type-1B receptor) (BMPR-1B) (EC 2.7.11.30) (CD antigen CDw293)

sequence:

opentargets:
dendrite [GO:0030425]; HFE-transferrin receptor complex [GO:1990712]; integral component of plasma membrane [GO:0005887]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; ATP binding [GO:0005524]; growth factor binding [GO:0019838]; metal ion binding [GO:0046872]; protein serine/threonine kinase activity [GO:0004674]; SMAD binding [GO:0046332]; transforming growth factor beta receptor activity, type I [GO:0005025]; transforming growth factor beta-activated receptor activity [GO:0005024]; transmembrane receptor protein serine/threonine kinase activity [GO:0004675]; BMP signaling pathway [GO:0030509]; cartilage condensation [GO:0001502]; cellular response to BMP stimulus [GO:0071773]; chondrocyte development [GO:0002063]; dorsal/ventral pattern formation [GO:0009953]; endochondral bone morphogenesis [GO:0060350]; eye development [GO:0001654]; inflammatory response [GO:0006954]; limb morphogenesis [GO:0035108]; negative regulation of chondrocyte proliferation [GO:1902731]; ovarian cumulus expansion [GO:0001550]; ovulation cycle [GO:0042698]; pattern specification process [GO:0007389]; positive regulation of bone mineralization [GO:0030501]; positive regulation of cartilage development [GO:0061036]; positive regulation of cell differentiation [GO:0045597]; positive regulation of chondrocyte differentiation [GO:0032332]; positive regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902043]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein phosphorylation [GO:0006468]; proteoglycan biosynthetic process [GO:0030166]; retina development in camera-type eye [GO:0060041]; retinal ganglion cell axon guidance [GO:0031290]; skeletal system development [GO:0001501]; transforming growth factor beta receptor signaling pathway [GO:0007179]

snps:
rs745854387 rs200035802 rs863225041 rs34231464 rs121434417 rs35973133 rs869025614 rs34970181 rs121434419 rs121434418 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O00238-1; Sequence=Displayed; Name=2; IsoId=O00238-2; Sequence=VSP_045100; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:P36898}. Membrane; Single-pass type I membrane protein.


uniprotID: Q6QNY0
geneSymbol: BLOC1S3
reactome: R-HSA-432722;
name: Biogenesis of lysosome-related organelles complex 1 subunit 3 (BLOC-1 subunit 3)
length: 202
go: ENSG00000189114;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
axon cytoplasm [GO:1904115]; BLOC-1 complex [GO:0031083]; cytosol [GO:0005829]; transport vesicle [GO:0030133]; protein transmembrane transporter activity [GO:0008320]; anterograde axonal transport [GO:0008089]; anterograde synaptic vesicle transport [GO:0048490]; endosome to melanosome transport [GO:0035646]; eye development [GO:0001654]; melanosome organization [GO:0032438]; melanosome transport [GO:0032402]; neuron projection development [GO:0031175]; pigmentation [GO:0043473]; platelet activation [GO:0030168]; platelet dense granule organization [GO:0060155]; positive regulation of natural killer cell activation [GO:0032816]; response to drug [GO:0042493]; secretion of lysosomal enzymes [GO:0033299]


uniprotID: Q9UMX3
geneSymbol: BOK
pdb: 6CKV;
name: Bcl-2-related ovarian killer protein (hBOK) (Bcl-2-like protein 9) (Bcl2-L-9)
length: 212
go: ENSG00000176720;
sequence:

opentargets:
cis-Golgi network membrane [GO:0033106]; cytoplasm [GO:0005737]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; mitochondrial inner membrane [GO:0005743]; mitochondrial membrane [GO:0031966]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; nuclear outer membrane [GO:0005640]; nucleus [GO:0005634]; recycling endosome membrane [GO:0055038]; trans-Golgi network membrane [GO:0032588]; BH domain binding [GO:0051400]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; signaling receptor binding [GO:0005102]; ubiquitin protein ligase binding [GO:0031625]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c [GO:0008635]; apoptotic process [GO:0006915]; brain development [GO:0007420]; cell proliferation [GO:0008283]; cellular component disassembly involved in execution phase of apoptosis [GO:0006921]; extrinsic apoptotic signaling pathway in absence of ligand [GO:0097192]; intrinsic apoptotic signaling pathway by p53 class mediator [GO:0072332]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; male gonad development [GO:0008584]; negative regulation of mitochondrial depolarization [GO:0051902]; negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway [GO:1901029]; negative regulation of necroptotic process [GO:0060546]; negative regulation of neuron apoptotic process [GO:0043524]; neuron apoptotic process [GO:0051402]; oligodendrocyte differentiation [GO:0048709]; positive regulation of apoptotic process [GO:0043065]; positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway [GO:1902237]; positive regulation of execution phase of apoptosis [GO:1900119]; positive regulation of intrinsic apoptotic signaling pathway [GO:2001244]; positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway [GO:1901030]; positive regulation of PERK-mediated unfolded protein response [GO:1903899]; protein complex oligomerization [GO:0051259]; regulation of autophagy [GO:0010506]; regulation of chorionic trophoblast cell proliferation [GO:1901382]; regulation of cytosolic calcium ion concentration [GO:0051480]; regulation of granulosa cell apoptotic process [GO:1904708]; release of cytochrome c from mitochondria [GO:0001836]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Mtd-L {ECO:0000303|PubMed:15775999}; IsoId=Q9UMX3-1; Sequence=Displayed; Name=2; Synonyms=Mtd-P {ECO:0000303|PubMed:15775999}; IsoId=Q9UMX3-2; Sequence=VSP_058599; 

location:
SUBCELLULAR LOCATION: Isoform 1: Mitochondrion membrane {ECO:0000250|UniProtKB:O35425}; Single-pass membrane protein {ECO:0000250|UniProtKB:O35425}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:27076518}; Single-pass membrane protein {ECO:0000250|UniProtKB:O35425}. Mitochondrion inner membrane {ECO:0000269|PubMed:24113155}. Cytoplasm {ECO:0000269|PubMed:15868100, ECO:0000269|PubMed:16302269, ECO:0000269|PubMed:19942931, ECO:0000269|PubMed:20673843, ECO:0000269|PubMed:24113155}. Nucleus {ECO:0000269|PubMed:16302269, ECO:0000269|PubMed:19942931, ECO:0000269|PubMed:20673843}. Mitochondrion {ECO:0000269|PubMed:15102863, ECO:0000269|PubMed:15868100, ECO:0000269|PubMed:19942931, ECO:0000269|PubMed:27076518}. Endoplasmic reticulum {ECO:0000269|PubMed:16302269}. Mitochondrion outer membrane {ECO:0000269|PubMed:27076518}. Early endosome membrane {ECO:0000250|UniProtKB:O35425}. Recycling endosome membrane {ECO:0000250|UniProtKB:O35425}. Nucleus outer membrane {ECO:0000250|UniProtKB:O35425}. Golgi apparatus, cis-Golgi network membrane {ECO:0000250|UniProtKB:O35425}. Golgi apparatus, trans-Golgi network membrane {ECO:0000250|UniProtKB:O35425}. Membrane {ECO:0000269|PubMed:19942931}. Note=Nuclear and cytoplasmic compartments in the early stages of apoptosis and during apoptosis it associates with mitochondria (PubMed:19942931). In healthy cells, associates loosely with the membrane in a hit-and-run mode. The insertion and accumulation on membranes is enhanced through the activity of death signals, resulting in the integration of the membrane-bound protein into the membrane (PubMed:15868100). The transmembrane domain controls subcellular localization; constitutes a tail-anchor. Localizes in early and late endosome upon blocking of apoptosis. Must localize to the mitochondria to induce mitochondrial outer membrane permeabilization and apoptosis (By similarity). {ECO:0000250|UniProtKB:O35425, ECO:0000269|PubMed:15868100, ECO:0000269|PubMed:19942931}.; SUBCELLULAR LOCATION: Isoform 2: Membrane {ECO:0000269|PubMed:19942931}. Cytoplasm {ECO:0000269|PubMed:19942931}.


uniprotID: O95393
geneSymbol: BMP10
reactome: R-HSA-201451;R-HSA-2129379;
name: Bone morphogenetic protein 10 (BMP-10)
length: 424
go: ENSG00000163217;
snps: rs2231342 rs2231345
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:

opentargets:
cell surface [GO:0009986]; cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Z disc [GO:0030018]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; hormone activity [GO:0005179]; receptor serine/threonine kinase binding [GO:0033612]; telethonin binding [GO:0031433]; transforming growth factor beta receptor binding [GO:0005160]; activin receptor signaling pathway [GO:0032924]; adult heart development [GO:0007512]; atrial cardiac muscle tissue morphogenesis [GO:0055009]; BMP signaling pathway [GO:0030509]; cardiac muscle cell proliferation [GO:0060038]; cell adhesion [GO:0007155]; cell development [GO:0048468]; heart trabecula formation [GO:0060347]; negative regulation of cardiac muscle hypertrophy [GO:0010614]; negative regulation of cell growth [GO:0030308]; negative regulation of cell migration [GO:0030336]; negative regulation of endothelial cell migration [GO:0010596]; pathway-restricted SMAD protein phosphorylation [GO:0060389]; positive regulation of cardiac muscle cell proliferation [GO:0060045]; positive regulation of cardiac muscle hypertrophy [GO:0010613]; positive regulation of cartilage development [GO:0061036]; positive regulation of cell proliferation involved in heart morphogenesis [GO:2000138]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; positive regulation of sarcomere organization [GO:0060298]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of apoptotic process [GO:0042981]; regulation of cardiac muscle contraction [GO:0055117]; regulation of cardiac muscle hypertrophy in response to stress [GO:1903242]; regulation of MAPK cascade [GO:0043408]; sarcomere organization [GO:0045214]; SMAD protein signal transduction [GO:0060395]; ventricular cardiac muscle cell development [GO:0055015]; ventricular cardiac muscle tissue morphogenesis [GO:0055010]


uniprotID: Q8N9W6
geneSymbol: BOLL
name: Protein boule-like
length: 283
go: ENSG00000152430;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11390979, ECO:0000269|PubMed:17114206}.
sequence:

opentargets:
cytoplasm [GO:0005737]; mRNA 3'-UTR binding [GO:0003730]; translation activator activity [GO:0008494]; germ cell development [GO:0007281]; meiotic cell cycle [GO:0051321]; multicellular organism development [GO:0007275]; positive regulation of translational initiation [GO:0045948]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=BOULE2; IsoId=Q8N9W6-1; Sequence=Displayed; Name=2; IsoId=Q8N9W6-2; Sequence=VSP_009444, VSP_009445, VSP_009446; Note=No experimental confirmation available.; Name=3; Synonyms=BOULE1; IsoId=Q8N9W6-3; Sequence=VSP_036805; Name=4; Synonyms=BOULE3; IsoId=Q8N9W6-4; Sequence=VSP_009444; Name=5; IsoId=Q8N9W6-5; Sequence=VSP_055382, VSP_055383; Note=No experimental confirmation available.; 


uniprotID: Q9GZL8
geneSymbol: BPESC1
name: Putative BPES syndrome breakpoint region protein (BPES candidate 1)
length: 116
sequence:
MGGRDQITNLGSEGETHPWGYSSPPYPLHTFFIPFLPSGFGGSGLGIPSDNEKHDLQDCVEVSRPEGPAPELPSSLCGWNKISSLCGLGFPSRDPKTWDLAMLLSPWVDFFELQLL


uniprotID: Q8N8U9
geneSymbol: BMPER
length: 685
go: ENSG00000164619;
snps: rs387906993 rs10249320
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:14766204}.
name:
BMP-binding endothelial regulator protein (Bone morphogenetic protein-binding endothelial cell precursor-derived regulator) (Protein crossveinless-2) (hCV2)

sequence:

opentargets:
extracellular space [GO:0005615]; blood vessel endothelial cell proliferation involved in sprouting angiogenesis [GO:0002043]; endothelial cell activation [GO:0042118]; inner ear development [GO:0048839]; negative regulation of BMP signaling pathway [GO:0030514]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of sprouting angiogenesis [GO:1903672]; regulation of endothelial cell migration [GO:0010594]; regulation of pathway-restricted SMAD protein phosphorylation [GO:0060393]; ureteric bud development [GO:0001657]


uniprotID: P59827
geneSymbol: BPIFB4
reactome: R-HSA-6803157;
length: 614
go: ENSG00000186191;
opentargets: cytoplasm [GO:0005737]; extracellular region [GO:0005576]; lipid binding [GO:0008289]
snps: rs2424943 rs4339026 rs2424943 rs2070325 rs2070325 rs2889732 rs11699009 rs11696307
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}. Cytoplasm {ECO:0000269|PubMed:12837268}.
name:
BPI fold-containing family B member 4 (Ligand-binding protein RY2G5) (Long palate, lung and nasal epithelium carcinoma-associated protein 4)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P59827-1; Sequence=Displayed; Name=2; IsoId=P59827-2; Sequence=VSP_037828; 


uniprotID: Q6ZMU1
geneSymbol: C3P1
name: Putative protein C3P1
length: 363
opentargets: extracellular space [GO:0005615]; endopeptidase inhibitor activity [GO:0004866]
snps: rs8113341 rs10403787 rs1993466 rs4552116
sequence:


uniprotID: P0C862
geneSymbol: C1QTNF9
length: 333
go: ENSG00000240654;
snps: rs1974332 rs3751357 rs4589405
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
name:
Complement C1q and tumor necrosis factor-related protein 9A (Complement C1q and tumor necrosis factor-related protein 9)

sequence:

opentargets:
collagen trimer [GO:0005581]; extracellular region [GO:0005576]; hormone activity [GO:0005179]; identical protein binding [GO:0042802]


uniprotID: Q96MC4
geneSymbol: CEP295NL
name: CEP295 N-terminal-like protein (KIAA1731 N-terminal like protein)
length: 621
go: ENSG00000178404;
opentargets: cilium [GO:0005929]
sequence:

location:
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000250}. Note=Colocalizes to the motile cilium of mature spermatozoa. {ECO:0000250}.


uniprotID: P11586
geneSymbol: MTHFD1
reactome: R-HSA-196757;
pdb: 1A4I;1DIA;1DIB;1DIG;
length: 935
drug: DB03461;DB04322;DB02358;DB00157;DB00116;
snps: rs1950902 rs4902283 rs34181110 rs2236225 rs10813 rs17857382
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
C-1-tetrahydrofolate synthase, cytoplasmic (C1-THF synthase) [Cleaved into: C-1-tetrahydrofolate synthase, cytoplasmic, N-terminally processed] [Includes: Methylenetetrahydrofolate dehydrogenase (EC 1.5.1.5); Methenyltetrahydrofolate cyclohydrolase (EC 3.5.4.9); Formyltetrahydrofolate synthetase (EC 6.3.4.3)]

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; formate-tetrahydrofolate ligase activity [GO:0004329]; methenyltetrahydrofolate cyclohydrolase activity [GO:0004477]; methylenetetrahydrofolate dehydrogenase (NAD+) activity [GO:0004487]; methylenetetrahydrofolate dehydrogenase (NADP+) activity [GO:0004488]; methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity [GO:0004486]; 10-formyltetrahydrofolate biosynthetic process [GO:0009257]; embryonic neurocranium morphogenesis [GO:0048702]; embryonic viscerocranium morphogenesis [GO:0048703]; folic acid metabolic process [GO:0046655]; heart development [GO:0007507]; histidine biosynthetic process [GO:0000105]; methionine biosynthetic process [GO:0009086]; methionine metabolic process [GO:0006555]; neural tube closure [GO:0001843]; neutrophil homeostasis [GO:0001780]; one-carbon metabolic process [GO:0006730]; purine nucleobase biosynthetic process [GO:0009113]; purine nucleotide biosynthetic process [GO:0006164]; serine family amino acid biosynthetic process [GO:0009070]; serine family amino acid metabolic process [GO:0009069]; somite development [GO:0061053]; tetrahydrofolate interconversion [GO:0035999]; transsulfuration [GO:0019346]


uniprotID: Q86UP0
geneSymbol: CDH24
reactome: R-HSA-418990;
name: Cadherin-24
length: 819
go: ENSG00000139880;
sequence:

opentargets:
catenin complex [GO:0016342]; cell surface [GO:0009986]; cell-cell adherens junction [GO:0005913]; cell-cell junction [GO:0005911]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; alpha-catenin binding [GO:0045294]; beta-catenin binding [GO:0008013]; cadherin binding [GO:0045296]; calcium ion binding [GO:0005509]; cytoskeletal protein binding [GO:0008092]; delta-catenin binding [GO:0070097]; protein homodimerization activity [GO:0042803]; adherens junction organization [GO:0034332]; calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0016339]; cell-cell adhesion [GO:0098609]; cell-cell adhesion mediated by cadherin [GO:0044331]; cell-cell junction assembly [GO:0007043]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Long form; IsoId=Q86UP0-1; Sequence=Displayed; Name=2; Synonyms=Short form; IsoId=Q86UP0-2; Sequence=VSP_008717; Name=3; IsoId=Q86UP0-3; Sequence=VSP_008718, VSP_008719; Note=No experimental confirmation available.; 


uniprotID: Q00975
geneSymbol: CACNA1B
reactome: R-HSA-112308;
pdb: 2LCM;
length: 2339
go: ENSG00000148408;
drug: DB08838;DB00381;DB00996;DB01202;DB00421;DB00661;
snps: rs4422842 rs7873074 rs11137342 rs184841813 rs12377346 rs12377346
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Voltage-dependent N-type calcium channel subunit alpha-1B (Brain calcium channel III) (BIII) (Calcium channel, L type, alpha-1 polypeptide isoform 5) (Voltage-gated calcium channel subunit alpha Cav2.2)

sequence:

opentargets:
dendrite [GO:0030425]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; presynapse [GO:0098793]; voltage-gated calcium channel complex [GO:0005891]; ATP binding [GO:0005524]; calcium channel activity [GO:0005262]; calcium ion binding [GO:0005509]; high voltage-gated calcium channel activity [GO:0008331]; protein C-terminus binding [GO:0008022]; voltage-gated calcium channel activity [GO:0005245]; calcium ion import [GO:0070509]; calcium ion transport [GO:0006816]; chemical synaptic transmission [GO:0007268]; locomotory behavior [GO:0007626]; membrane depolarization [GO:0051899]; neurotransmitter secretion [GO:0007269]; regulation of blood pressure [GO:0008217]; regulation of calcium ion transport [GO:0051924]; regulation of heart contraction [GO:0008016]; regulation of ion transmembrane transport [GO:0034765]; response to pain [GO:0048265]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Alpha-1B-1; IsoId=Q00975-1; Sequence=Displayed; Name=Alpha-1B-2; IsoId=Q00975-2; Sequence=VSP_000882; 


uniprotID: Q9Y6J0
geneSymbol: CABIN1
reactome: R-HSA-2559584;
pdb: 1N6J;
name: Calcineurin-binding protein cabin-1 (Calcineurin inhibitor) (CAIN)
length: 2220
go: ENSG00000099991;
snps: rs5760185 rs17004823 rs9624393 rs9624395 rs17854874 rs12166151
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:9655484}.
sequence:

opentargets:
aggresome [GO:0016235]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein phosphatase inhibitor activity [GO:0004864]; cell surface receptor signaling pathway [GO:0007166]; DNA replication-independent nucleosome assembly [GO:0006336]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y6J0-1; Sequence=Displayed; Name=2; IsoId=Q9Y6J0-2; Sequence=VSP_054161, VSP_054162; Note=No experimental confirmation available.; 


uniprotID: Q5T0J3
geneSymbol: C1orf220
name: Putative uncharacterized protein C1orf220
length: 134
snps: rs12568310
sequence:
MIPVRGLWYCYLQVKKVRLREAERLGPKSQCPAECGAASWISWVLQHQQLLASEWATKDGRGTWGSKPSCTVPALSATSQLLQLGRLNSDLQFVRQRAKKSVSSPSLLQFWCCLSRLSFHALNQKINSTNINIT


uniprotID: O75309
geneSymbol: CDH16
name: Cadherin-16 (Kidney-specific cadherin) (Ksp-cadherin)
length: 829
go: ENSG00000166589;
snps: rs2271024 rs2271023 rs34621310
sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; calcium ion binding [GO:0005509]; calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0016339]; cell adhesion [GO:0007155]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O75309-1; Sequence=Displayed; Name=2; IsoId=O75309-2; Sequence=VSP_013354; Note=No experimental confirmation available.; Name=3; IsoId=O75309-3; Sequence=VSP_046027; Note=No experimental confirmation available.; Name=4; IsoId=O75309-4; Sequence=VSP_046467; Note=No experimental confirmation available.; 


uniprotID: Q8WVQ1
geneSymbol: CANT1
reactome: R-HSA-6798695;
pdb: 1S18;1S1D;2H2N;2H2U;
length: 401
go: ENSG00000171302;
drug: DB03486;DB03754;
name:
Soluble calcium-activated nucleotidase 1 (SCAN-1) (EC 3.6.1.6) (Apyrase homolog) (Putative MAPK-activating protein PM09) (Putative NF-kappa-B-activating protein 107)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; Golgi cisterna membrane [GO:0032580]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; specific granule lumen [GO:0035580]; tertiary granule lumen [GO:1904724]; adenosine-diphosphatase activity [GO:0043262]; calcium ion binding [GO:0005509]; guanosine-diphosphatase activity [GO:0004382]; protein homodimerization activity [GO:0042803]; uridine-diphosphatase activity [GO:0045134]; neutrophil degranulation [GO:0043312]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; proteoglycan biosynthetic process [GO:0030166]

snps:
rs749246739 rs587776898 rs1014317450 rs150181226 rs377546036 rs267606700 rs267606701 rs267606699 rs9903215 rs387907081 rs34082669 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8WVQ1-1; Sequence=Displayed; Name=2; IsoId=Q8WVQ1-2; Sequence=VSP_013760, VSP_013761; Name=3; IsoId=Q8WVQ1-3; Sequence=VSP_054260; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12234496}; Single-pass type II membrane protein {ECO:0000269|PubMed:12234496}. Golgi apparatus, Golgi stack membrane {ECO:0000269|PubMed:12234496}; Single-pass type II membrane protein {ECO:0000269|PubMed:12234496}. Cell membrane {ECO:0000269|PubMed:16835225}. Note=Processed form: Secreted.


uniprotID: Q8N4J0
geneSymbol: CARNMT1
reactome: R-HSA-70921;
pdb: 5YF0;5YF1;5YF2;
name: Carnosine N-methyltransferase (EC 2.1.1.22)
length: 409
go: ENSG00000156017;
sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; carnosine N-methyltransferase activity [GO:0030735]; S-adenosylmethionine-dependent methyltransferase activity [GO:0008757]; carnosine metabolic process [GO:0035498]; histidine catabolic process [GO:0006548]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:26001783}. Nucleus {ECO:0000269|PubMed:26001783}.


uniprotID: Q9NV96
geneSymbol: TMEM30A
reactome: R-HSA-6798695;
length: 361
go: ENSG00000112697;
name:
Cell cycle control protein 50A (P4-ATPase flippase complex beta subunit TMEM30A) (Transmembrane protein 30A)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; azurophil granule membrane [GO:0035577]; endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; transport vesicle membrane [GO:0030658]; aminophospholipid transmembrane transporter activity [GO:0015247]; aminophospholipid transport [GO:0015917]; drug transmembrane transport [GO:0006855]; neutrophil degranulation [GO:0043312]; phospholipid translocation [GO:0045332]; positive regulation of neuron projection development [GO:0010976]; positive regulation of protein exit from endoplasmic reticulum [GO:0070863]; protein localization to endosome [GO:0036010]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NV96-1; Sequence=Displayed; Name=2; IsoId=Q9NV96-2; Sequence=VSP_019568; Name=3; IsoId=Q9NV96-3; Sequence=VSP_019567; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cell membrane. Golgi apparatus. Cytoplasmic vesicle, secretory vesicle membrane {ECO:0000250}. Apical cell membrane {ECO:0000250}.


uniprotID: A0ZSE6
geneSymbol: TMEM30CP
name: Cell cycle control protein 50C (Transmembrane protein 30C)
length: 113
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MEERAQHCLSRLLDNSALKQQELPIHRLYFTARRVLFVFFATGIFCLCMGIILILSARSTQEIEINYTRICANCAKLRENASNFDKECTCSIPFYLSGKMMVGEIQETRLTLH

opentargets:
endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; aminophospholipid transmembrane transporter activity [GO:0015247]; phospholipid translocation [GO:0045332]


uniprotID: Q7Z3E2
geneSymbol: CCDC186
name: Coiled-coil domain-containing protein 186 (CTCL tumor antigen HD-CL-01/L14-2)
length: 898
go: ENSG00000165813;
snps: rs1061159 rs12782946 rs7095762
sequence:


uniprotID: Q96LY2
geneSymbol: CCDC74B
name: Coiled-coil domain-containing protein 74B
length: 380
go: ENSG00000152076;
snps: rs184349150 rs3177472
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96LY2-1; Sequence=Displayed; Name=2; IsoId=Q96LY2-2; Sequence=VSP_022730; 


uniprotID: P0DN79
geneSymbol: CBSL
name: Cystathionine beta-synthase-like protein (EC 4.2.1.22) (Beta-thionase) (Serine sulfhydrase)
length: 551
go: ENSG00000160200;ENSG00000274276;
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; cystathionine beta-synthase activity [GO:0004122]; cysteine synthase activity [GO:0004124]; heme binding [GO:0020037]; metal ion binding [GO:0046872]; pyridoxal phosphate binding [GO:0030170]; cysteine biosynthetic process from serine [GO:0006535]; cysteine biosynthetic process via cystathionine [GO:0019343]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P35520}. Nucleus {ECO:0000250|UniProtKB:P35520}.


uniprotID: A6NKD9
geneSymbol: CCDC85C
name: Coiled-coil domain-containing protein 85C
length: 419
go: ENSG00000205476;
sequence:

opentargets:
apical junction complex [GO:0043296]; bicellular tight junction [GO:0005923]; cerebral cortex development [GO:0021987]

location:
SUBCELLULAR LOCATION: Cell junction, tight junction {ECO:0000250}. Note=Localizes to the apical junction of radial glia in the wall of lateral ventricles of the developing brain. Colocalizes with TJP1 on the meshwork-like structure of adherens junctions on the lateral ventricles wall. {ECO:0000250}.


uniprotID: P30498
geneSymbol: HLA-B
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
name: HLA class I histocompatibility antigen, B-78 alpha chain (MHC class I antigen B*78)
length: 362
snps: rs1050393
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:


uniprotID: P30505
geneSymbol: HLA-C
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
pdb: 4NT6;
name: HLA class I histocompatibility antigen, Cw-8 alpha chain (MHC class I antigen Cw*8)
length: 366
snps: rs1050409 rs1065382 rs28626310 rs1050276
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:


uniprotID: P11171
geneSymbol: EPB41
reactome: R-HSA-6794361;
pdb: 1GG3;2RQ1;3QIJ;
name: Protein 4.1 (P4.1) (4.1R) (Band 4.1) (EPB4.1)
length: 864
go: ENSG00000159023;
snps: rs111642750
sequence:

opentargets:
cell cortex region [GO:0099738]; cell junction [GO:0030054]; cortical cytoskeleton [GO:0030863]; cytoplasmic side of plasma membrane [GO:0009898]; cytosol [GO:0005829]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; protein-containing complex [GO:0032991]; spectrin-associated cytoskeleton [GO:0014731]; 1-phosphatidylinositol binding [GO:0005545]; actin binding [GO:0003779]; calmodulin binding [GO:0005516]; phosphoprotein binding [GO:0051219]; protein C-terminus binding [GO:0008022]; protein N-terminus binding [GO:0047485]; spectrin binding [GO:0030507]; structural constituent of cytoskeleton [GO:0005200]; actin cytoskeleton organization [GO:0030036]; actomyosin structure organization [GO:0031032]; cell cycle [GO:0007049]; cell division [GO:0051301]; cortical actin cytoskeleton organization [GO:0030866]; positive regulation of protein binding [GO:0032092]; positive regulation of protein localization to cell cortex [GO:1904778]; protein-containing complex assembly [GO:0065003]; regulation of cell shape [GO:0008360]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=P11171-1; Sequence=Displayed; Name=2; IsoId=P11171-2; Sequence=VSP_000470; Name=3; IsoId=P11171-3; Sequence=VSP_000468, VSP_000471; Name=4; Synonyms=Erythroid; IsoId=P11171-4; Sequence=VSP_000468, VSP_000470, VSP_000473; Name=5; Synonyms=Non-erythroid A; IsoId=P11171-5; Sequence=VSP_000469, VSP_000470, VSP_000472; Name=6; Synonyms=Non-erythroid B; IsoId=P11171-6; Sequence=VSP_000468, VSP_000469, VSP_000470, VSP_000472; Name=7; IsoId=P11171-7; Sequence=VSP_000471, VSP_012872, VSP_012873; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:12427749}. Cytoplasm, cell cortex {ECO:0000269|PubMed:12427749, ECO:0000269|PubMed:23870127}. Nucleus {ECO:0000269|PubMed:12427749}.


uniprotID: P20848
geneSymbol: SERPINA2
name: Putative alpha-1-antitrypsin-related protein (Protease inhibitor 1-like) (Serpin A2)
length: 420
location: SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000269|PubMed:23826168}.
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; extracellular space [GO:0005615]; serine-type endopeptidase inhibitor activity [GO:0004867]; negative regulation of endopeptidase activity [GO:0010951]


uniprotID: P30456
geneSymbol: HLA-A
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
name: HLA class I histocompatibility antigen, A-43 alpha chain (Aw-43) (MHC class I antigen A*43)
length: 365
snps: rs1059509 rs1059516
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
cell surface [GO:0009986]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; MHC class I protein complex [GO:0042612]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; beta-2-microglobulin binding [GO:0030881]; peptide antigen binding [GO:0042605]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent [GO:0002480]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; interferon-gamma-mediated signaling pathway [GO:0060333]; regulation of immune response [GO:0050776]; type I interferon signaling pathway [GO:0060337]


uniprotID: Q9NQ94
geneSymbol: A1CF
reactome: R-HSA-72200;R-HSA-75094;
pdb: 2CPD;
name: APOBEC1 complementation factor (APOBEC1-stimulating protein)
length: 594
go: ENSG00000148584;
snps: rs9073 rs11817448
sequence:

opentargets:
apolipoprotein B mRNA editing enzyme complex [GO:0030895]; cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; nucleoplasm [GO:0005654]; RNA binding [GO:0003723]; single-stranded RNA binding [GO:0003727]; cytidine to uridine editing [GO:0016554]; mRNA modification [GO:0016556]; mRNA processing [GO:0006397]; protein stabilization [GO:0050821]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1 {ECO:0000269|PubMed:10781591}; IsoId=Q9NQ94-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:10669759, ECO:0000269|PubMed:10781591}; IsoId=Q9NQ94-2; Sequence=VSP_051929; Note=Major isoform found in 66-78% of cDNA clones. {ECO:0000269|PubMed:11718896}; Name=3; IsoId=Q9NQ94-3; Sequence=VSP_051926, VSP_051929; Name=4 {ECO:0000305}; IsoId=Q9NQ94-4; Sequence=VSP_051927, VSP_051929; Note=Does not exhibit APOBEC1 complementation activity. {ECO:0000269|PubMed:11718896, ECO:0000305}; Name=5 {ECO:0000269|PubMed:11718896}; IsoId=Q9NQ94-5; Sequence=VSP_051925; Note=Does not exhibit APOBEC1 complementation activity. {ECO:0000269|PubMed:11718896}; Name=6 {ECO:0000269|PubMed:11718896}; IsoId=Q9NQ94-6; Sequence=VSP_051928; Note=Minor isoform found in 2-3% of cDNA clones. {ECO:0000269|PubMed:11718896}; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12881431}. Endoplasmic reticulum {ECO:0000250}. Cytoplasm {ECO:0000269|PubMed:12881431}. Note=Predominantly nuclear where it localizes to heterochromatin. Also cytoplasmic where it is found at the outer surface of the endoplasmic reticulum (By similarity). Shuttles between the nucleus and cytoplasm. May be transported into the nucleus by the nuclear import protein TNPO2/TRN2 or by APOBEC1. {ECO:0000250}.


uniprotID: Q30134
geneSymbol: HLA-DRB1
reactome: R-HSA-202424;R-HSA-202427;R-HSA-202430;R-HSA-202433;R-HSA-2132295;R-HSA-389948;R-HSA-877300;
length: 266
snps: rs9269744
name:
HLA class II histocompatibility antigen, DRB1-8 beta chain (MHC class II antigen DRB1*8) (DR-8) (DR8) (DRw8)

sequence:

opentargets:
clathrin-coated endocytic vesicle membrane [GO:0030669]; endocytic vesicle membrane [GO:0030666]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; late endosome membrane [GO:0031902]; 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]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; interferon-gamma-mediated signaling pathway [GO:0060333]; T cell receptor signaling pathway [GO:0050852]


uniprotID: Q9UNQ0
geneSymbol: ABCG2
reactome: R-HSA-2161517;R-HSA-917937;
pdb: 5NJ3;5NJG;6ETI;6FEQ;6FFC;6HIJ;
length: 655
go: ENSG00000118777;
name:
ATP-binding cassette sub-family G member 2 (Breast cancer resistance protein) (CDw338) (Mitoxantrone resistance-associated protein) (Placenta-specific ATP-binding cassette transporter) (Urate exporter) (CD antigen CD338)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; integral component of membrane [GO:0016021]; mitochondrial membrane [GO:0031966]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; ATP binding [GO:0005524]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; drug transmembrane transporter activity [GO:0015238]; heme transporter activity [GO:0015232]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; transporter activity [GO:0005215]; xenobiotic transmembrane transporting ATPase activity [GO:0008559]; cellular iron ion homeostasis [GO:0006879]; cholesterol efflux [GO:0033344]; response to drug [GO:0042493]; transmembrane transport [GO:0055085]; urate metabolic process [GO:0046415]

drug:
DB08916;DB11363;DB06605;DB04851;DB00921;DB06772;DB04690;DB00958;DB00439;DB04540;DB00515;DB00242;DB00631;DB09065;DB05239;DB00286;DB00091;DB08912;DB09102;DB00970;DB02115;DB09183;DB01254;DB00694;DB01234;DB00255;DB01248;DB00997;DB00470;DB04881;DB11574;DB00530;DB00783;DB00655;DB00773;DB00973;DB03496;DB00544;DB00158;DB00317;DB01645;DB01016;DB01094;DB00741;DB09054;DB00619;DB00762;DB00602;DB00709;DB00448;DB01097;DB09078;DB00563;DB01204;DB00688;DB03467;DB00220;DB04868;DB00698;DB01051;DB00338;DB09330;DB00526;DB01229;DB00213;DB06589;DB08860;DB08901;DB00175;DB00457;DB04216;DB01129;DB08896;DB08864;DB00740;DB08931;DB00503;DB09291;DB01098;DB06654;DB01232;DB08934;DB00398;DB00795;DB00669;DB01268;DB00675;DB04348;DB00966;DB00444;DB08880;DB00624;DB01030;DB05294;DB08881;DB11581;DB00285;DB00661;DB00541;DB08828;DB00549;DB00495;

snps:
rs2231137 rs1319203095 rs2231142 rs528655917 rs1061017 rs12721643 rs1061018 rs3116448 rs41282401 rs138606116 rs1354553769 rs192169063 rs45605536 rs9282571 rs34264773 rs34783571 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UNQ0-1; Sequence=Displayed; Name=2; IsoId=Q9UNQ0-2; Sequence=VSP_014232, VSP_014233; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15001581, ECO:0000269|PubMed:15769853, ECO:0000269|PubMed:15807535}; Multi-pass membrane protein {ECO:0000255}. Mitochondrion membrane {ECO:0000269|PubMed:23189181}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q9NRA8
geneSymbol: EIF4ENIF1
pdb: 5ANR;6F9W;
length: 985
go: ENSG00000184708;
name:
Eukaryotic translation initiation factor 4E transporter (4E-T) (eIF4E transporter) (Eukaryotic translation initiation factor 4E nuclear import factor 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; P-body [GO:0000932]; PML body [GO:0016605]; mRNA binding [GO:0003729]; protein transporter activity [GO:0008565]; RNA binding [GO:0003723]; negative regulation of neuron differentiation [GO:0045665]; negative regulation of translation [GO:0017148]; stem cell population maintenance [GO:0019827]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NRA8-1; Sequence=Displayed; Name=2; IsoId=Q9NRA8-2; Sequence=VSP_003783, VSP_003784, VSP_047042; Note=No experimental confirmation available.; Name=3; IsoId=Q9NRA8-3; Sequence=VSP_047042; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22090346}. Nucleus {ECO:0000269|PubMed:22090346}. Nucleus, PML body {ECO:0000269|PubMed:22090346}. Nucleus speckle {ECO:0000269|PubMed:22090346}. Note=Predominantly cytoplasmic. Shuttles between the nucleus and the cytoplasm in a CRM1-dependent manner. Localization to nuclear foci and speckles requires active transcription.


uniprotID: P08195
geneSymbol: SLC3A2
reactome: R-HSA-210991;R-HSA-352230;R-HSA-71240;
pdb: 2DH2;2DH3;
length: 630
go: ENSG00000168003;
name:
4F2 cell-surface antigen heavy chain (4F2hc) (4F2 heavy chain antigen) (Lymphocyte activation antigen 4F2 large subunit) (Solute carrier family 3 member 2) (CD antigen CD98)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; cell surface [GO:0009986]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; melanosome [GO:0042470]; membrane [GO:0016020]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; cadherin binding [GO:0045296]; calcium:sodium antiporter activity [GO:0005432]; catalytic activity [GO:0003824]; double-stranded RNA binding [GO:0003725]; neutral amino acid transmembrane transporter activity [GO:0015175]; RNA binding [GO:0003723]; amino acid transport [GO:0006865]; calcium ion transport [GO:0006816]; carbohydrate metabolic process [GO:0005975]; L-leucine import across plasma membrane [GO:1903801]; leukocyte migration [GO:0050900]; response to exogenous dsRNA [GO:0043330]; tryptophan transport [GO:0015827]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P08195-1; Sequence=Displayed; Name=2; IsoId=P08195-2; Sequence=VSP_037907; Name=3; IsoId=P08195-3; Sequence=VSP_037908; Name=4; IsoId=P08195-4; Sequence=VSP_037909; 

location:
SUBCELLULAR LOCATION: Apical cell membrane; Single-pass type II membrane protein. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Localized to the plasma membrane when associated with SLC7A5 or SLC7A8. Localized to the placental apical membrane. Located selectively at cell-cell adhesion sites (By similarity). Colocalized with SLC7A8/LAT2 at the basolateral membrane of kidney proximal tubules and small intestine epithelia. Expressed in both luminal and abluminal membranes of brain capillary endothelial cells (By similarity). {ECO:0000250}.


uniprotID: P28566
geneSymbol: HTR1E
reactome: R-HSA-390666;R-HSA-418594;
name: 5-hydroxytryptamine receptor 1E (5-HT-1E) (5-HT1E) (S31) (Serotonin receptor 1E)
length: 365
go: ENSG00000168830;
drug: DB01238;DB00363;DB00216;DB01049;DB01221;DB00408;DB00247;DB00334;DB01224;DB13025;DB00246;
snps: rs3828741 rs6303
sequence:

opentargets:
dendrite [GO:0030425]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled serotonin receptor activity [GO:0004993]; neurotransmitter receptor activity [GO:0030594]; serotonin binding [GO:0051378]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; chemical synaptic transmission [GO:0007268]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:14744596, ECO:0000269|PubMed:1513320, ECO:0000269|PubMed:1608964, ECO:0000269|PubMed:1733778, ECO:0000269|PubMed:21422162}; Multi-pass membrane protein {ECO:0000269|PubMed:14744596, ECO:0000269|PubMed:1513320, ECO:0000269|PubMed:1608964, ECO:0000269|PubMed:1733778, ECO:0000269|PubMed:21422162}.


uniprotID: P13761
geneSymbol: HLA-DRB1
reactome: R-HSA-202424;R-HSA-202427;R-HSA-202430;R-HSA-202433;R-HSA-2132295;R-HSA-389948;R-HSA-877300;
length: 266
snps: rs707953 rs17878437 rs9269941 rs9269744
name:
HLA class II histocompatibility antigen, DRB1-7 beta chain (MHC class II antigen DRB1*7) (DR-7) (DR7)

sequence:

opentargets:
clathrin-coated endocytic vesicle membrane [GO:0030669]; endocytic vesicle membrane [GO:0030666]; ER to Golgi transport vesicle membrane [GO:0012507]; external side of plasma membrane [GO:0009897]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; late endosome membrane [GO:0031902]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; MHC class II protein complex [GO:0042613]; plasma membrane [GO:0005886]; trans-Golgi network membrane [GO:0032588]; transport vesicle membrane [GO:0030658]; MHC class II receptor activity [GO:0032395]; peptide antigen binding [GO:0042605]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; detection of bacterium [GO:0016045]; humoral immune response mediated by circulating immunoglobulin [GO:0002455]; immune response [GO:0006955]; immunoglobulin production involved in immunoglobulin mediated immune response [GO:0002381]; inflammatory response to antigenic stimulus [GO:0002437]; interferon-gamma-mediated signaling pathway [GO:0060333]; negative regulation of interferon-gamma production [GO:0032689]; negative regulation of T cell proliferation [GO:0042130]; positive regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0035774]; protein tetramerization [GO:0051262]; regulation of interleukin-10 secretion [GO:2001179]; regulation of interleukin-4 production [GO:0032673]; T cell receptor signaling pathway [GO:0050852]; T-helper 1 type immune response [GO:0042088]


uniprotID: Q29865
geneSymbol: HLA-C
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
name: HLA class I histocompatibility antigen, Cw-18 alpha chain (MHC class I antigen Cw*18)
length: 366
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

snps:
rs2308527 rs1050438 rs707911 rs707911 rs707911 rs1050409 rs1065382 rs28626310 rs41543814 rs1131103 rs1050276 


uniprotID: P30501
geneSymbol: HLA-C
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
name: HLA class I histocompatibility antigen, Cw-2 alpha chain (MHC class I antigen Cw*2)
length: 366
snps: rs2308574 rs1050276
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
cell surface [GO:0009986]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; integral component of plasma membrane [GO:0005887]; MHC class I protein complex [GO:0042612]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; peptide antigen binding [GO:0042605]; TAP binding [GO:0046977]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent [GO:0002480]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; immune response [GO:0006955]; interferon-gamma-mediated signaling pathway [GO:0060333]; regulation of immune response [GO:0050776]; type I interferon signaling pathway [GO:0060337]


uniprotID: P08697
geneSymbol: SERPINF2
reactome: R-HSA-114608;R-HSA-75205;
name: Alpha-2-antiplasmin (Alpha-2-AP) (Alpha-2-plasmin inhibitor) (Alpha-2-PI) (Serpin F2)
length: 491
go: ENSG00000167711;
drug: DB08888;
snps: rs2070862 rs2070863 rs36021516 rs121965062 rs1057335 rs57360598
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
blood microparticle [GO:0072562]; cell surface [GO:0009986]; collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; fibrinogen complex [GO:0005577]; platelet alpha granule lumen [GO:0031093]; endopeptidase inhibitor activity [GO:0004866]; protease binding [GO:0002020]; protein homodimerization activity [GO:0042803]; serine-type endopeptidase inhibitor activity [GO:0004867]; acute-phase response [GO:0006953]; blood vessel morphogenesis [GO:0048514]; collagen fibril organization [GO:0030199]; fibrinolysis [GO:0042730]; negative regulation of endopeptidase activity [GO:0010951]; negative regulation of fibrinolysis [GO:0051918]; negative regulation of plasminogen activation [GO:0010757]; platelet degranulation [GO:0002576]; positive regulation of cell differentiation [GO:0045597]; positive regulation of cell-cell adhesion mediated by cadherin [GO:2000049]; positive regulation of collagen biosynthetic process [GO:0032967]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of JNK cascade [GO:0046330]; positive regulation of smooth muscle cell proliferation [GO:0048661]; positive regulation of stress fiber assembly [GO:0051496]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transforming growth factor beta production [GO:0071636]; regulation of blood vessel diameter by renin-angiotensin [GO:0002034]; response to organic substance [GO:0010033]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P08697-1; Sequence=Displayed; Name=2; IsoId=P08697-2; Sequence=VSP_043833, VSP_043834; 


uniprotID: O95264
geneSymbol: HTR3B
reactome: R-HSA-112314;
name: 5-hydroxytryptamine receptor 3B (5-HT3-B) (5-HT3B) (Serotonin receptor 3B)
length: 441
go: ENSG00000149305;
drug: DB01049;DB00898;DB13025;
snps: rs1176744 rs34550504 rs72466469 rs17116138
sequence:

opentargets:
cell surface [GO:0009986]; integral component of plasma membrane [GO:0005887]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; serotonin-activated cation-selective channel complex [GO:1904602]; synapse [GO:0045202]; serotonin-gated cation-selective channel activity [GO:0022850]; 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]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95264-1; Sequence=Displayed; Name=2; IsoId=O95264-2; Sequence=VSP_029796; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21138434}; Multi-pass membrane protein {ECO:0000269|PubMed:21138434}. Note=Presumably retained within the endoplasmic reticulum unless complexed with HTR3A.


uniprotID: P36639
geneSymbol: NUDT1
reactome: R-HSA-2393930;
length: 197
go: ENSG00000106268;
snps: rs11547459 rs4866
pdb:
1IRY;3Q93;3WHW;3ZR0;3ZR1;4C9W;4C9X;4N1T;4N1U;5ANS;5ANT;5ANU;5ANV;5ANW;5FSI;5FSK;5FSL;5FSM;5FSN;5FSO;5GHI;5GHJ;5GHM;5GHN;5GHO;5GHP;5GHQ;5NGR;5NGS;5NGT;5NHY;5OTM;5WS7;6F1X;6F20;6F22;6F23;

name:
7,8-dihydro-8-oxoguanine triphosphatase (EC 3.6.1.55) (2-hydroxy-dATP diphosphatase) (EC 3.6.1.56) (8-oxo-dGTPase) (Nucleoside diphosphate-linked moiety X motif 1) (Nudix motif 1)

sequence:
MYWSNQITRRLGERVQGFMSGISPQQMGEPEGSWSGKNPGTMGASRLYTLVLVLQPQRVLLGMKKRGFGAGRWNGFGGKVQEGETIEDGARRELQEESGLTVDALHKVGQIVFEFVGEPELMDVHVFCTDSIQGTPVESDEMRPCWFQLDQIPFKDMWPDDSYWFPLLLQKKKFHGYFKFQGQDTILDYTLREVDTV

opentargets:
acrosomal vesicle [GO:0001669]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular space [GO:0005615]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nuclear membrane [GO:0031965]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; 2-hydroxy-(deoxy)adenosine-triphosphate pyrophosphatase activity [GO:0044714]; 2-hydroxy-adenosine triphosphate pyrophosphatase activity [GO:0044713]; 8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity [GO:0035539]; 8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity [GO:0008413]; ATP diphosphatase activity [GO:0047693]; GTP diphosphatase activity [GO:0036219]; GTPase activity [GO:0003924]; metal ion binding [GO:0046872]; snoRNA binding [GO:0030515]; aging [GO:0007568]; dATP catabolic process [GO:0046061]; dGTP catabolic process [GO:0006203]; DNA protection [GO:0042262]; DNA repair [GO:0006281]; male gonad development [GO:0008584]; nucleobase-containing small molecule catabolic process [GO:0034656]; purine nucleotide catabolic process [GO:0006195]; response to cadmium ion [GO:0046686]; response to oxidative stress [GO:0006979]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=4;  Name=p26; IsoId=P36639-1; Sequence=Displayed; Note=Derived from a B-type mRNA with a polymorphic alteration (GU-->GC) at the beginning of exon 2c that converts an in-frame UGA to CGA yielding another in-frame AUG further upstream.; Name=p22; IsoId=P36639-2; Sequence=VSP_018812; Name=p21; IsoId=P36639-3; Sequence=VSP_018813; Name=p18; IsoId=P36639-4; Sequence=VSP_018814; 

location:
SUBCELLULAR LOCATION: Isoform p18: Cytoplasm, cytosol {ECO:0000269|PubMed:12857738, ECO:0000269|PubMed:16607562, ECO:0000269|PubMed:7782328}. Mitochondrion matrix {ECO:0000269|PubMed:7782328, ECO:0000305|PubMed:12857738, ECO:0000305|PubMed:16607562}. Nucleus {ECO:0000269|PubMed:12857738, ECO:0000269|PubMed:7782328}. Note=Mostly present in cytosol (PubMed:7782328). A minor proportion is mitochondrial (PubMed:7782328). A very small amount of the protein is associated with nuclei (PubMed:7782328). Variant Met-124 has decreased efficiency in translocation to mitochondria (PubMed:16607562). {ECO:0000269|PubMed:16607562, ECO:0000269|PubMed:7782328}.; SUBCELLULAR LOCATION: Isoform p26: Mitochondrion matrix {ECO:0000269|PubMed:16607562}.


uniprotID: P10321
geneSymbol: HLA-C
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-6798695;R-HSA-877300;R-HSA-909733;R-HSA-983170;
pdb: 3BZF;5VGE;
name: HLA class I histocompatibility antigen, Cw-7 alpha chain (MHC class I antigen Cw*7)
length: 366
go: ENSG00000204525;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
cell surface [GO:0009986]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; ER to Golgi transport vesicle membrane [GO:0012507]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; MHC class I protein complex [GO:0042612]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; secretory granule membrane [GO:0030667]; peptide antigen binding [GO:0042605]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent [GO:0002480]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; interferon-gamma-mediated signaling pathway [GO:0060333]; neutrophil degranulation [GO:0043312]; regulation of immune response [GO:0050776]; type I interferon signaling pathway [GO:0060337]

snps:
rs2308527 rs1050438 rs707911 rs707911 rs707911 rs1050409 rs1065382 rs28626310 rs41543814 rs2308557 rs17408553 rs1071649 rs1131115 rs1131115 rs1131115 rs2308574 rs713032 rs1050366 rs1131103 rs1131096 rs1131096 rs1050276 rs1050118 rs1050105 rs41542414 rs1130935 rs41559915 rs35708511 rs1130838 


uniprotID: Q31610
geneSymbol: HLA-B
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
pdb: 4U1I;4U1L;4U1S;
name: HLA class I histocompatibility antigen, B-81 alpha chain (B'DT) (MHC class I antigen B*81)
length: 362
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

snps:
rs1050458 rs1050462 rs1131170 rs1050486 rs713031 rs713031 rs713031 rs1050529 rs1050570 rs1065386 rs1050393 rs1131215 rs1050388 rs1050379 rs1050654 rs2308466 rs2308466 rs2523600 rs2523600 rs2308466 rs1050696 rs1131500 rs1051488 rs2308655 rs2308655 


uniprotID: O95870
geneSymbol: ABHD16A
length: 558
go: ENSG00000204427;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Protein ABHD16A (EC 3.-.-.-) (Alpha/beta hydrolase domain-containing protein 16A) (Abhydrolase domain-containing protein 16A) (HLA-B-associated transcript 5) (Protein G5)

sequence:

opentargets:
integral component of membrane [GO:0016021]; acylglycerol lipase activity [GO:0047372]; monoacylglycerol catabolic process [GO:0052651]; prostaglandin catabolic process [GO:1905344]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95870-1; Sequence=Displayed; Name=2; IsoId=O95870-2; Sequence=VSP_043825; 


uniprotID: P41595
geneSymbol: HTR2B
reactome: R-HSA-390666;R-HSA-416476;
pdb: 4IB4;4NC3;5TUD;5TVN;6DRX;6DRY;6DRZ;6DS0;
name: 5-hydroxytryptamine receptor 2B (5-HT-2B) (5-HT2B) (Serotonin receptor 2B)
length: 481
go: ENSG00000135914;
snps: rs78484969 rs77570025 rs77982984 rs6736017
sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; dendrite [GO:0030425]; integral component of plasma membrane [GO:0005887]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; synapse [GO:0045202]; drug binding [GO:0008144]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled serotonin receptor activity [GO:0004993]; G-protein alpha-subunit binding [GO:0001965]; GTPase activator activity [GO:0005096]; neurotransmitter receptor activity [GO:0030594]; serotonin binding [GO:0051378]; activation of phospholipase C activity [GO:0007202]; behavior [GO:0007610]; calcium-mediated signaling [GO:0019722]; cardiac muscle hypertrophy [GO:0003300]; cellular calcium ion homeostasis [GO:0006874]; cellular response to temperature stimulus [GO:0071502]; cGMP-mediated signaling [GO:0019934]; chemical synaptic transmission [GO:0007268]; embryonic morphogenesis [GO:0048598]; ERK1 and ERK2 cascade [GO:0070371]; G protein-coupled receptor internalization [GO:0002031]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; heart morphogenesis [GO:0003007]; intestine smooth muscle contraction [GO:0014827]; negative regulation of apoptotic process [GO:0043066]; negative regulation of autophagy [GO:0010507]; negative regulation of cell death [GO:0060548]; neural crest cell differentiation [GO:0014033]; neural crest cell migration [GO:0001755]; phosphatidylinositol 3-kinase signaling [GO:0014065]; phosphorylation [GO:0016310]; positive regulation of cell division [GO:0051781]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cytokine production [GO:0001819]; positive regulation of cytokine secretion [GO:0050715]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of nitric-oxide synthase activity [GO:0051000]; positive regulation of phosphatidylinositol biosynthetic process [GO:0010513]; protein kinase C signaling [GO:0070528]; protein kinase C-activating G protein-coupled receptor signaling pathway [GO:0007205]; regulation of behavior [GO:0050795]; release of sequestered calcium ion into cytosol [GO:0051209]; response to drug [GO:0042493]; serotonin receptor signaling pathway [GO:0007210]; vasoconstriction [GO:0042310]

drug:
DB00543;DB00714;DB06216;DB01200;DB00248;DB06016;DB00477;DB01239;DB01242;DB00320;DB01142;DB00216;DB05492;DB01049;DB06678;DB00574;DB01221;DB00589;DB00247;DB06148;DB00805;DB00370;DB00334;DB05461;DB01186;DB00413;DB00268;DB01079;DB13025;DB00508;DB01392;

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12970106, ECO:0000269|PubMed:23519210, ECO:0000269|PubMed:23519215, ECO:0000269|PubMed:28129538, ECO:0000269|PubMed:7926008, ECO:0000269|PubMed:8078486, ECO:0000269|PubMed:8143856}; Multi-pass membrane protein {ECO:0000269|PubMed:23519215, ECO:0000269|PubMed:24357322, ECO:0000269|PubMed:28129538}. Cell junction, synapse, synaptosome {ECO:0000250|UniProtKB:Q02152}.


uniprotID: P05534
geneSymbol: HLA-A
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
length: 365
snps: rs41541319 rs17185861
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
pdb:
2BCK;3I6L;3NFN;3QZW;3VXM;3VXN;3VXO;3VXP;3VXR;3VXS;3VXU;3W0W;3WL9;3WLB;4F7M;4F7P;4F7T;4WU5;4WU7;5HGA;5HGB;5HGD;5HGH;5WWI;5WWJ;5WWU;5WXC;5WXD;5XOV;

name:
HLA class I histocompatibility antigen, A-24 alpha chain (Aw-24) (HLA class I histocompatibility antigen, A-9 alpha chain) (MHC class I antigen A*24)

sequence:

opentargets:
cell surface [GO:0009986]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; ER to Golgi transport vesicle membrane [GO:0012507]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; MHC class I protein complex [GO:0042612]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; beta-2-microglobulin binding [GO:0030881]; peptide antigen binding [GO:0042605]; TAP binding [GO:0046977]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent [GO:0002480]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; interferon-gamma-mediated signaling pathway [GO:0060333]; protection from natural killer cell mediated cytotoxicity [GO:0042270]; regulation of immune response [GO:0050776]; type I interferon signaling pathway [GO:0060337]


uniprotID: P02750
geneSymbol: LRG1
reactome: R-HSA-6798695;
name: Leucine-rich alpha-2-glycoprotein (LRG)
length: 347
go: ENSG00000171236;
snps: rs7251081 rs966384
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; ficolin-1-rich granule lumen [GO:1904813]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; specific granule lumen [GO:0035580]; tertiary granule lumen [GO:1904724]; transforming growth factor beta receptor binding [GO:0005160]; brown fat cell differentiation [GO:0050873]; neutrophil degranulation [GO:0043312]; positive regulation of angiogenesis [GO:0045766]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of transforming growth factor beta receptor signaling pathway [GO:0030511]; response to bacterium [GO:0009617]


uniprotID: P63104
geneSymbol: YWHAZ
name: 14-3-3 protein zeta/delta (Protein kinase C inhibitor protein 1) (KCIP-1)
length: 245
go: ENSG00000164924;
reactome:
R-HSA-111447;R-HSA-1445148;R-HSA-3769402;R-HSA-392517;R-HSA-430116;R-HSA-450604;R-HSA-512988;R-HSA-5625740;R-HSA-5628897;R-HSA-75035;R-HSA-9013700;R-HSA-9604323;

pdb:
1IB1;1QJA;1QJB;2C1J;2C1N;2O02;2WH0;3CU8;3NKX;3RDH;4BG6;4FJ3;4HKC;4IHL;4N7G;4N7Y;4N84;4WRQ;4ZDR;5D2D;5D3F;5EWZ;5EXA;5J31;5JM4;5M35;5M36;5M37;5NAS;5ULO;5WXN;5XY9;6EJL;6EWW;6F08;6F09;6FN9;6FNA;6FNB;6FNC;

sequence:

opentargets:
blood microparticle [GO:0072562]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; focal adhesion [GO:0005925]; glutamatergic synapse [GO:0098978]; hippocampal mossy fiber to CA3 synapse [GO:0098686]; melanosome [GO:0042470]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; vesicle [GO:0031982]; cadherin binding [GO:0045296]; identical protein binding [GO:0042802]; ion channel binding [GO:0044325]; protein domain specific binding [GO:0019904]; protein kinase binding [GO:0019901]; RNA binding [GO:0003723]; transcription factor binding [GO:0008134]; ubiquitin protein ligase binding [GO:0031625]; cytokine-mediated signaling pathway [GO:0019221]; establishment of Golgi localization [GO:0051683]; Golgi reassembly [GO:0090168]; membrane organization [GO:0061024]; negative regulation of apoptotic process [GO:0043066]; platelet activation [GO:0030168]; positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway [GO:1900740]; protein targeting [GO:0006605]; regulation of mRNA stability [GO:0043488]; regulation of synapse maturation [GO:0090128]; signal transduction [GO:0007165]; synaptic target recognition [GO:0008039]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P63104-1; Sequence=Displayed; Name=2; IsoId=P63104-2; Sequence=VSP_047505; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17081065}. Melanosome {ECO:0000269|PubMed:17081065}. Note=Located to stage I to stage IV melanosomes.


uniprotID: P30499
geneSymbol: HLA-C
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
name: HLA class I histocompatibility antigen, Cw-1 alpha chain (MHC class I antigen Cw*1)
length: 366
snps: rs1050438 rs707911 rs707911 rs707911 rs1050409 rs1065382 rs28626310 rs1131103
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
cell surface [GO:0009986]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; integral component of plasma membrane [GO:0005887]; MHC class I protein complex [GO:0042612]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; peptide antigen binding [GO:0042605]; TAP binding [GO:0046977]; antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent [GO:0002486]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent [GO:0002480]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; immune response [GO:0006955]; interferon-gamma-mediated signaling pathway [GO:0060333]; regulation of immune response [GO:0050776]; type I interferon signaling pathway [GO:0060337]


uniprotID: Q9Y3L3
geneSymbol: SH3BP1
pdb: 4J9D;4J9F;
name: SH3 domain-binding protein 1
length: 701
go: ENSG00000100092;
snps: rs929038 rs2269548
sequence:

opentargets:
adherens junction [GO:0005912]; bicellular tight junction [GO:0005923]; cell leading edge [GO:0031252]; cytosol [GO:0005829]; intracellular [GO:0005622]; lamellipodium [GO:0030027]; nucleus [GO:0005634]; phagocytic cup [GO:0001891]; GTPase activator activity [GO:0005096]; Rac GTPase binding [GO:0048365]; semaphorin receptor binding [GO:0030215]; SH3 domain binding [GO:0017124]; actin filament organization [GO:0007015]; cell junction assembly [GO:0034329]; cell migration [GO:0016477]; establishment of epithelial cell apical/basal polarity [GO:0045198]; filopodium assembly [GO:0046847]; negative regulation of small GTPase mediated signal transduction [GO:0051058]; phagocytosis, engulfment [GO:0006911]; positive regulation of GTPase activity [GO:0043547]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of actin filament depolymerization [GO:0030834]; regulation of blood vessel endothelial cell migration [GO:0043535]; ruffle assembly [GO:0097178]; semaphorin-plexin signaling pathway [GO:0071526]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=4;  Name=1; IsoId=Q9Y3L3-1; Sequence=Displayed; Name=2; IsoId=Q9Y3L3-2; Sequence=VSP_011373, VSP_011374; Name=Long BGIN {ECO:0000303|PubMed:23223568}; IsoId=Q6ZT62-1; Sequence=External; Note=Based on a naturally occurring readthrough transcript which produces a SH3BP1-PDXP fusion protein. Translation initiation occurs at a non-canonical CUG codon. {ECO:0000269|PubMed:23223568}; Name=Short BGIN {ECO:0000303|PubMed:23223568}; IsoId=Q6ZT62-2; Sequence=External; Note=Produced by alternative initiation at Met-73 of isoform long BGIN. {ECO:0000269|PubMed:23223568}; 

location:
SUBCELLULAR LOCATION: Cell projection {ECO:0000269|PubMed:21658605, ECO:0000269|PubMed:24841563}. Cell junction, tight junction {ECO:0000269|PubMed:22891260}. Cell junction, adherens junction {ECO:0000269|PubMed:22891260}. Cell projection, phagocytic cup {ECO:0000269|PubMed:26465210}. Nucleus {ECO:0000269|PubMed:22891260}. Cytoplasm, cytosol {ECO:0000269|PubMed:22891260}. Note=Localizes at the leading edge of migrating cells (PubMed:21658605, PubMed:24841563). Accumulation at forming phagocytic cups is PI3 kinase/PI3K-dependent and is specific for sites of large particles engagement and their phosphatidylinositol 3,4,5-triphosphate membrane content (PubMed:26465210). {ECO:0000269|PubMed:21658605, ECO:0000269|PubMed:24841563, ECO:0000269|PubMed:26465210}.


uniprotID: P21589
geneSymbol: NT5E
reactome: R-HSA-196807;R-HSA-73621;R-HSA-74259;
pdb: 4H1S;4H1Y;4H2B;4H2F;4H2G;4H2I;
name: 5'-nucleotidase (5'-NT) (EC 3.1.3.5) (Ecto-5'-nucleotidase) (CD antigen CD73)
length: 574
go: ENSG00000135318;
drug: DB00987;DB00806;
snps: rs387906620 rs2229523 rs2229524
location: SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor.
sequence:

opentargets:
anchored component of membrane [GO:0031225]; cell surface [GO:0009986]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; 5'-nucleotidase activity [GO:0008253]; metal ion binding [GO:0046872]; nucleotide binding [GO:0000166]; adenosine biosynthetic process [GO:0046086]; AMP catabolic process [GO:0006196]; DNA metabolic process [GO:0006259]; leukocyte cell-cell adhesion [GO:0007159]; NAD metabolic process [GO:0019674]; negative regulation of inflammatory response [GO:0050728]; purine nucleotide catabolic process [GO:0006195]; pyrimidine nucleoside catabolic process [GO:0046135]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P21589-1; Sequence=Displayed; Name=2; IsoId=P21589-2; Sequence=VSP_043076; Note=No experimental confirmation available.; 


uniprotID: Q16537
geneSymbol: PPP2R5E
length: 467
go: ENSG00000154001;
location: SUBCELLULAR LOCATION: Cytoplasm.
reactome:
R-HSA-141444;R-HSA-195253;R-HSA-196299;R-HSA-2467813;R-HSA-2500257;R-HSA-389513;R-HSA-432142;R-HSA-4641262;R-HSA-5339716;R-HSA-5358747;R-HSA-5358749;R-HSA-5358751;R-HSA-5358752;R-HSA-5467337;R-HSA-5467340;R-HSA-5467348;R-HSA-5663220;R-HSA-5673000;R-HSA-5675221;R-HSA-6811558;R-HSA-68877;

name:
Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform (PP2A B subunit isoform B'-epsilon) (PP2A B subunit isoform B56-epsilon) (PP2A B subunit isoform PR61-epsilon) (PP2A B subunit isoform R5-epsilon)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; protein phosphatase type 2A complex [GO:0000159]; protein phosphatase activator activity [GO:0072542]; protein phosphatase regulator activity [GO:0019888]; regulation of protein autophosphorylation [GO:0031952]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q16537-1; Sequence=Displayed; Name=2; IsoId=Q16537-2; Sequence=VSP_054588; Note=No experimental confirmation available.; Name=3; IsoId=Q16537-3; Sequence=VSP_055163; Note=No experimental confirmation available.; 


uniprotID: Q5Y7A7
geneSymbol: HLA-DRB1
reactome: R-HSA-202424;R-HSA-202427;R-HSA-202430;R-HSA-202433;R-HSA-2132295;R-HSA-389948;R-HSA-877300;
length: 266
name:
HLA class II histocompatibility antigen, DRB1-13 beta chain (MHC class II antigen DRB1*13) (DR-13) (DR13)

sequence:

opentargets:
clathrin-coated endocytic vesicle membrane [GO:0030669]; endocytic vesicle membrane [GO:0030666]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; late endosome membrane [GO:0031902]; 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]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; interferon-gamma-mediated signaling pathway [GO:0060333]; T cell receptor signaling pathway [GO:0050852]


uniprotID: Q8N961
geneSymbol: ABTB2
name: Ankyrin repeat and BTB/POZ domain-containing protein 2
length: 1025
go: ENSG00000166016;
snps: rs1925368 rs2473928
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein heterodimerization activity [GO:0046982]; cellular response to toxic substance [GO:0097237]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N961-1; Sequence=Displayed; Name=2; IsoId=Q8N961-2; Sequence=VSP_046439; Note=No experimental confirmation available.; 


uniprotID: P01891
geneSymbol: HLA-A
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
pdb: 1HSB;1TMC;2HLA;4HWZ;4HX1;4I48;6EI2;
length: 365
snps: rs199474430 rs78306866 rs1136688 rs1136700 rs1059488
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
HLA class I histocompatibility antigen, A-68 alpha chain (Aw-68) (HLA class I histocompatibility antigen, A-28 alpha chain) (MHC class I antigen A*68)

sequence:

opentargets:
cell surface [GO:0009986]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; MHC class I protein complex [GO:0042612]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; beta-2-microglobulin binding [GO:0030881]; peptide antigen binding [GO:0042605]; RNA binding [GO:0003723]; signaling receptor binding [GO:0005102]; antigen processing and presentation of endogenous peptide antigen via MHC class Ib [GO:0002476]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent [GO:0002480]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; immune response [GO:0006955]; interferon-gamma-mediated signaling pathway [GO:0060333]; positive regulation of T cell mediated cytotoxicity [GO:0001916]; regulation of immune response [GO:0050776]; type I interferon signaling pathway [GO:0060337]


uniprotID: Q9UGI9
geneSymbol: PRKAG3
reactome: R-HSA-1445148;R-HSA-1632852;R-HSA-2151209;R-HSA-380972;R-HSA-5628897;R-HSA-6804756;
name: 5'-AMP-activated protein kinase subunit gamma-3 (AMPK gamma3) (AMPK subunit gamma-3)
length: 489
go: ENSG00000115592;
drug: DB00945;
sequence:

opentargets:
cytosol [GO:0005829]; extracellular space [GO:0005615]; nucleoplasm [GO:0005654]; nucleotide-activated protein kinase complex [GO:0031588]; AMP-activated protein kinase activity [GO:0004679]; ATP binding [GO:0005524]; protein kinase binding [GO:0019901]; cell cycle arrest [GO:0007050]; fatty acid biosynthetic process [GO:0006633]; glycogen biosynthetic process [GO:0005978]; glycolytic process [GO:0006096]; intracellular signal transduction [GO:0035556]; macroautophagy [GO:0016236]; regulation of protein serine/threonine kinase activity [GO:0071900]; response to muscle activity involved in regulation of muscle adaptation [GO:0014873]

snps:
rs692243 rs864622003 rs371222838 rs864622004 rs35050588 rs962993719 rs200004875 rs372752820 rs776255177 rs776263291 rs370008874 rs138130157 rs41272689 rs367916025 rs864622005 rs551272603 rs33985460 rs200750014 rs34720726 rs149508864 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UGI9-1; Sequence=Displayed; Name=2; IsoId=Q9UGI9-2; Sequence=VSP_015587; 


uniprotID: Q7L8J4
geneSymbol: SH3BP5L
name: SH3 domain-binding protein 5-like (SH3BP-5-like)
length: 393
go: ENSG00000175137;
sequence:

opentargets:
cytoplasm [GO:0005737]; protein kinase inhibitor activity [GO:0004860]; intracellular signal transduction [GO:0035556]; negative regulation of protein tyrosine kinase activity [GO:0061099]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7L8J4-1; Sequence=Displayed; Name=2; IsoId=Q7L8J4-2; Sequence=VSP_056075; Note=No experimental confirmation available.; 


uniprotID: P16189
geneSymbol: HLA-A
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
name: HLA class I histocompatibility antigen, A-31 alpha chain (MHC class I antigen A*31)
length: 365
snps: rs1059509 rs1059516 rs17185861
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
cell surface [GO:0009986]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; MHC class I protein complex [GO:0042612]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; beta-2-microglobulin binding [GO:0030881]; peptide antigen binding [GO:0042605]; TAP binding [GO:0046977]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent [GO:0002480]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; interferon-gamma-mediated signaling pathway [GO:0060333]; regulation of immune response [GO:0050776]; type I interferon signaling pathway [GO:0060337]


uniprotID: P30443
geneSymbol: HLA-A
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
pdb: 1W72;3BO8;4NQV;4NQX;5BRZ;5BS0;6AT9;
name: HLA class I histocompatibility antigen, A-1 alpha chain (MHC class I antigen A*1)
length: 365
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
cell surface [GO:0009986]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; ER to Golgi transport vesicle membrane [GO:0012507]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; MHC class I protein complex [GO:0042612]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; beta-2-microglobulin binding [GO:0030881]; peptide antigen binding [GO:0042605]; TAP binding [GO:0046977]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent [GO:0002480]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; detection of bacterium [GO:0016045]; immune response [GO:0006955]; interferon-gamma-mediated signaling pathway [GO:0060333]; positive regulation of T cell mediated cytotoxicity [GO:0001916]; regulation of immune response [GO:0050776]; type I interferon signaling pathway [GO:0060337]; viral process [GO:0016032]

snps:
rs2075684 rs1059423 rs1059449 rs199474430 rs79361534 rs1071742 rs1136692 rs1136695 rs1136702 rs1059488 rs1059509 rs1059516 rs1059520 rs9260156 rs9260157 rs17185861 


uniprotID: Q14738
geneSymbol: PPP2R5D
length: 602
go: ENSG00000112640;
snps: rs757369209 rs863225082 rs863225079 rs876657383 rs869320691
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Nuclear in interphase, nuclear during mitosis.
reactome:
R-HSA-141444;R-HSA-163685;R-HSA-163767;R-HSA-180024;R-HSA-195253;R-HSA-196299;R-HSA-198753;R-HSA-202670;R-HSA-2467813;R-HSA-2500257;R-HSA-389513;R-HSA-432142;R-HSA-4641262;R-HSA-5339716;R-HSA-5358747;R-HSA-5358749;R-HSA-5358751;R-HSA-5358752;R-HSA-5467337;R-HSA-5467340;R-HSA-5467348;R-HSA-5663220;R-HSA-5673000;R-HSA-5675221;R-HSA-6811558;R-HSA-68877;R-HSA-70171;

name:
Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform (PP2A B subunit isoform B'-delta) (PP2A B subunit isoform B56-delta) (PP2A B subunit isoform PR61-delta) (PP2A B subunit isoform R5-delta)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein phosphatase type 2A complex [GO:0000159]; phosphoprotein phosphatase activity [GO:0004721]; protein phosphatase activator activity [GO:0072542]; protein phosphatase regulator activity [GO:0019888]; protein serine/threonine phosphatase activity [GO:0004722]; negative regulation of peptidyl-threonine phosphorylation [GO:0010801]; nervous system development [GO:0007399]; positive regulation of protein dephosphorylation [GO:0035307]; protein dephosphorylation [GO:0006470]; regulation of protein autophosphorylation [GO:0031952]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=Delta-1; IsoId=Q14738-1; Sequence=Displayed; Name=Delta-2; IsoId=Q14738-2; Sequence=VSP_005111; Name=Delta-3; IsoId=Q14738-3; Sequence=VSP_005110; 


uniprotID: P30512
geneSymbol: HLA-A
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
name: HLA class I histocompatibility antigen, A-29 alpha chain (Aw-19) (MHC class I antigen A*29)
length: 365
snps: rs1136700 rs1136702 rs1059488 rs1059509 rs1059516
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
cell surface [GO:0009986]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; MHC class I protein complex [GO:0042612]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; beta-2-microglobulin binding [GO:0030881]; peptide antigen binding [GO:0042605]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent [GO:0002480]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; interferon-gamma-mediated signaling pathway [GO:0060333]; regulation of immune response [GO:0050776]; type I interferon signaling pathway [GO:0060337]


uniprotID: P30153
geneSymbol: PPP2R1A
pdb: 1B3U;2IE3;2IE4;2NPP;2NYL;2NYM;2PKG;3C5W;3DW8;3K7V;3K7W;4I5L;4I5N;4LAC;5W0W;
length: 589
go: ENSG00000105568;
snps: rs786205228 rs786205227 rs863225094
reactome:
R-HSA-113501;R-HSA-1295596;R-HSA-141444;R-HSA-163685;R-HSA-163767;R-HSA-180024;R-HSA-195253;R-HSA-196299;R-HSA-198753;R-HSA-202670;R-HSA-2465910;R-HSA-2467813;R-HSA-2500257;R-HSA-2565942;R-HSA-2995383;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-389513;R-HSA-432142;R-HSA-4641262;R-HSA-5339716;R-HSA-5358747;R-HSA-5358749;R-HSA-5358751;R-HSA-5358752;R-HSA-5467337;R-HSA-5467340;R-HSA-5467348;R-HSA-5620912;R-HSA-5663220;R-HSA-5673000;R-HSA-5675221;R-HSA-6804757;R-HSA-6811558;R-HSA-68877;R-HSA-69231;R-HSA-69273;R-HSA-70171;R-HSA-8854518;R-HSA-975957;

name:
Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform (Medium tumor antigen-associated 61 kDa protein) (PP2A subunit A isoform PR65-alpha) (PP2A subunit A isoform R1-alpha)

sequence:

opentargets:
chromosome, centromeric region [GO:0000775]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; extracellular exosome [GO:0070062]; glutamatergic synapse [GO:0098978]; lateral plasma membrane [GO:0016328]; membrane [GO:0016020]; microtubule cytoskeleton [GO:0015630]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; protein phosphatase type 2A complex [GO:0000159]; protein antigen binding [GO:1990405]; protein heterodimerization activity [GO:0046982]; protein phosphatase regulator activity [GO:0019888]; protein serine/threonine phosphatase activity [GO:0004722]; apoptotic process [GO:0006915]; ceramide metabolic process [GO:0006672]; chromosome segregation [GO:0007059]; ciliary basal body-plasma membrane docking [GO:0097711]; female meiotic nuclear division [GO:0007143]; G2/M transition of mitotic cell cycle [GO:0000086]; inactivation of MAPK activity [GO:0000188]; meiotic sister chromatid cohesion, centromeric [GO:0051754]; meiotic spindle elongation [GO:0051232]; mitotic sister chromatid separation [GO:0051306]; negative regulation of cell growth [GO:0030308]; negative regulation of tyrosine phosphorylation of STAT protein [GO:0042532]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; peptidyl-serine dephosphorylation [GO:0070262]; positive regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001241]; protein dephosphorylation [GO:0006470]; protein-containing complex assembly [GO:0065003]; regulation of cell adhesion [GO:0030155]; regulation of cell differentiation [GO:0045595]; regulation of DNA replication [GO:0006275]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; regulation of growth [GO:0040008]; regulation of meiotic cell cycle process involved in oocyte maturation [GO:1903538]; regulation of transcription, DNA-templated [GO:0006355]; regulation of Wnt signaling pathway [GO:0030111]; response to organic substance [GO:0010033]; RNA splicing [GO:0008380]; second-messenger-mediated signaling [GO:0019932]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q32PI5}. Chromosome, centromere {ECO:0000269|PubMed:16580887}. Lateral cell membrane {ECO:0000269|PubMed:15525651}. Cell projection, dendrite {ECO:0000269|PubMed:15525651}. Note=Centromeric localization requires the presence of BUB1. {ECO:0000269|PubMed:16580887}.


uniprotID: Q9TNN7
geneSymbol: HLA-C
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
pdb: 5VGD;
name: HLA class I histocompatibility antigen, Cw-5 alpha chain (MHC class I antigen Cw*5)
length: 366
snps: rs1050409 rs1065382 rs28626310 rs2308575 rs713032 rs1131103 rs1050716 rs41545014 rs1050276
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
cell surface [GO:0009986]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; membrane [GO:0016020]; MHC class I protein complex [GO:0042612]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; peptide antigen binding [GO:0042605]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent [GO:0002480]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; interferon-gamma-mediated signaling pathway [GO:0060333]; regulation of immune response [GO:0050776]; type I interferon signaling pathway [GO:0060337]


uniprotID: P49902
geneSymbol: NT5C2
reactome: R-HSA-2161541;R-HSA-74259;
name: Cytosolic purine 5'-nucleotidase (EC 3.1.3.5) (Cytosolic 5'-nucleotidase II)
length: 561
go: ENSG00000076685;
drug: DB00171;DB00811;
snps: rs10883841 rs12262171
location: SUBCELLULAR LOCATION: Cytoplasm.
pdb:
2J2C;2JC9;2JCM;2XCV;2XCW;2XCX;2XJB;2XJC;2XJD;2XJE;2XJF;4H4B;5CQZ;5CR7;5K7Y;5L4Z;5L50;5OPK;5OPL;5OPM;5OPN;5OPO;5OPP;6DD3;6DDB;6DDC;6DDH;6DDK;6DDL;6DDO;6DDQ;6DDX;6DDY;6DDZ;6DE0;6DE1;6DE2;6DE3;

sequence:

opentargets:
cytosol [GO:0005829]; 5'-nucleotidase activity [GO:0008253]; metal ion binding [GO:0046872]; nucleoside phosphotransferase activity [GO:0050146]; nucleotide binding [GO:0000166]; adenosine metabolic process [GO:0046085]; drug metabolic process [GO:0017144]; IMP metabolic process [GO:0046040]; purine nucleotide catabolic process [GO:0006195]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P49902-1; Sequence=Displayed; Name=2; IsoId=P49902-2; Sequence=VSP_054235; Note=No experimental confirmation available.; 


uniprotID: Q15173
geneSymbol: PPP2R5B
length: 497
go: ENSG00000068971;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:8703017}.
reactome:
R-HSA-141444;R-HSA-195253;R-HSA-196299;R-HSA-2467813;R-HSA-2500257;R-HSA-381038;R-HSA-389513;R-HSA-432142;R-HSA-4641262;R-HSA-5339716;R-HSA-5358747;R-HSA-5358749;R-HSA-5358751;R-HSA-5358752;R-HSA-5467337;R-HSA-5467340;R-HSA-5467348;R-HSA-5663220;R-HSA-5673000;R-HSA-5675221;R-HSA-6811558;R-HSA-68877;

name:
Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit beta isoform (PP2A B subunit isoform B'-beta) (PP2A B subunit isoform B56-beta) (PP2A B subunit isoform PR61-beta) (PP2A B subunit isoform R5-beta)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; protein phosphatase type 2A complex [GO:0000159]; protein phosphatase activator activity [GO:0072542]; protein phosphatase regulator activity [GO:0019888]; cellular response to growth factor stimulus [GO:0071363]; IRE1-mediated unfolded protein response [GO:0036498]; negative regulation of G0 to G1 transition [GO:0070317]; positive regulation of cell cycle arrest [GO:0071158]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of neuron projection development [GO:0010976]; positive regulation of neurotrophin TRK receptor signaling pathway [GO:0051388]; positive regulation of protein complex assembly [GO:0031334]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of peptidyl-tyrosine phosphorylation [GO:0050730]; regulation of phosphatidylinositol 3-kinase signaling [GO:0014066]; regulation of protein autophosphorylation [GO:0031952]; regulation of signaling receptor activity [GO:0010469]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Beta-1; IsoId=Q15173-1; Sequence=Displayed; Name=Beta-2; IsoId=Q15173-2; Sequence=VSP_005109; 


uniprotID: P05408
geneSymbol: SCG5
length: 212
go: ENSG00000166922;
location: SUBCELLULAR LOCATION: Secreted. Note=Neuroendocrine and endocrine secretory granules.
name:
Neuroendocrine protein 7B2 (Pituitary polypeptide) (Secretogranin V) (Secretogranin-5) (Secretory granule endocrine protein I) [Cleaved into: N-terminal peptide; C-terminal peptide]

sequence:

opentargets:
extracellular region [GO:0005576]; secretory granule [GO:0030141]; enzyme inhibitor activity [GO:0004857]; GTP binding [GO:0005525]; unfolded protein binding [GO:0051082]; intracellular protein transport [GO:0006886]; neuropeptide signaling pathway [GO:0007218]; peptide hormone processing [GO:0016486]; regulation of hormone secretion [GO:0046883]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P05408-1; Sequence=Displayed; Name=2; IsoId=P05408-2; Sequence=VSP_011754; 


uniprotID: P52209
geneSymbol: PGD
reactome: R-HSA-71336;
pdb: 2JKV;4GWG;4GWK;5UQ9;
name: 6-phosphogluconate dehydrogenase, decarboxylating (EC 1.1.1.44)
length: 483
go: ENSG00000142657;
drug: DB02076;DB00851;DB00695;DB00789;DB00920;DB00814;DB00563;DB03962;DB00867;
snps: rs11547610
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleus [GO:0005634]; NADP binding [GO:0050661]; phosphogluconate dehydrogenase (decarboxylating) activity [GO:0004616]; D-gluconate metabolic process [GO:0019521]; oxidation-reduction process [GO:0055114]; pentose biosynthetic process [GO:0019322]; pentose-phosphate shunt [GO:0006098]; pentose-phosphate shunt, oxidative branch [GO:0009051]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P52209-1; Sequence=Displayed; Name=2; IsoId=P52209-2; Sequence=VSP_055767; Note=No experimental confirmation available.; 


uniprotID: Q31612
geneSymbol: HLA-B
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
name: HLA class I histocompatibility antigen, B-73 alpha chain (MHC class I antigen B*73)
length: 363
snps: rs1050458 rs1050462 rs1131165 rs1050529 rs1050570 rs1065386 rs1050654
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
cell surface [GO:0009986]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; MHC class I protein complex [GO:0042612]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; peptide antigen binding [GO:0042605]; signaling receptor binding [GO:0005102]; antigen processing and presentation of endogenous peptide antigen via MHC class Ib [GO:0002476]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent [GO:0002480]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; immune response [GO:0006955]; interferon-gamma-mediated signaling pathway [GO:0060333]; positive regulation of T cell mediated cytotoxicity [GO:0001916]; regulation of immune response [GO:0050776]; type I interferon signaling pathway [GO:0060337]


uniprotID: O60516
geneSymbol: EIF4EBP3
name: Eukaryotic translation initiation factor 4E-binding protein 3 (4E-BP3) (eIF4E-binding protein 3)
length: 100
go: ENSG00000243056;
sequence:
MSTSTSCPIPGGRDQLPDCYSTTPGGTLYATTPGGTRIIYDRKFLLECKNSPIARTPPCCLPQIPGVTTPPTAPLSKLEELKEQETEEEIPDDAQFEMDI

opentargets:
cytoplasm [GO:0005737]; eukaryotic translation initiation factor 4F complex [GO:0016281]; membrane [GO:0016020]; eukaryotic initiation factor 4E binding [GO:0008190]; translation repressor activity [GO:0030371]; negative regulation of translational initiation [GO:0045947]


uniprotID: Q9NPC4
geneSymbol: A4GALT
length: 353
go: ENSG00000128274;
snps: rs11541159 rs28915383 rs74315453 rs28940572 rs397514502 rs28940571
name:
Lactosylceramide 4-alpha-galactosyltransferase (EC 2.4.1.228) (Alpha-1,4-N-acetylglucosaminyltransferase) (Alpha-1,4-galactosyltransferase) (Alpha4Gal-T1) (CD77 synthase) (Globotriaosylceramide synthase) (Gb3 synthase) (P1/Pk synthase) (UDP-galactose:beta-D-galactosyl-beta1-R 4-alpha-D-galactosyltransferase)

sequence:

opentargets:
integral component of Golgi membrane [GO:0030173]; membrane [GO:0016020]; galactosyltransferase activity [GO:0008378]; lactosylceramide 4-alpha-galactosyltransferase activity [GO:0050512]; toxic substance binding [GO:0015643]; globoside biosynthetic process [GO:0001576]; glycosphingolipid biosynthetic process [GO:0006688]; plasma membrane organization [GO:0007009]; protein glycosylation [GO:0006486]


uniprotID: P30460
geneSymbol: HLA-B
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
name: HLA class I histocompatibility antigen, B-8 alpha chain (MHC class I antigen B*8)
length: 362
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
pdb:
1AGB;1AGC;1AGD;1AGE;1AGF;1M05;1MI5;3FFC;3SJV;3SKM;3SKO;3SPV;3X13;3X14;4QRP;4QRQ;4QRS;4QRT;4QRU;5WMQ;5WMR;

sequence:

opentargets:
cell surface [GO:0009986]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; MHC class I protein complex [GO:0042612]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; chaperone binding [GO:0051087]; peptide antigen binding [GO:0042605]; TAP binding [GO:0046977]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent [GO:0002480]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; immune response [GO:0006955]; interferon-gamma-mediated signaling pathway [GO:0060333]; regulation of immune response [GO:0050776]; type I interferon signaling pathway [GO:0060337]

snps:
rs1050458 rs1050462 rs1131165 rs713031 rs713031 rs713031 rs1050529 rs1050570 rs1065386 rs1071816 rs1050393 rs1131215 rs1050388 rs1140412 rs1071652 rs1050379 rs709055 rs9266150 rs1050654 rs151341293 rs376871308 rs1131500 rs1051488 rs2308655 rs2308655 


uniprotID: P18464
geneSymbol: HLA-B
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
pdb: 1E27;1E28;4MJI;
name: HLA class I histocompatibility antigen, B-51 alpha chain (MHC class I antigen B*51)
length: 362
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
cell surface [GO:0009986]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; MHC class I protein complex [GO:0042612]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; peptide antigen binding [GO:0042605]; antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent [GO:0002486]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent [GO:0002480]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; interferon-gamma-mediated signaling pathway [GO:0060333]; regulation of immune response [GO:0050776]; type I interferon signaling pathway [GO:0060337]


uniprotID: Q6NTF7
geneSymbol: APOBEC3H
reactome: R-HSA-72200;R-HSA-75094;
pdb: 6B0B;6BBO;
length: 200
go: ENSG00000100298;
snps: rs139293 rs139297 rs139298 rs139299 rs139300 rs139302
name:
DNA dC->dU-editing enzyme APOBEC-3H (EC 3.5.4.-) (APOBEC-related protein 10) (ARP-10) (Apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like 3H) (A3H)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; P-body [GO:0000932]; cytidine deaminase activity [GO:0004126]; RNA binding [GO:0003723]; zinc ion binding [GO:0008270]; cytidine to uridine editing [GO:0016554]; defense response to virus [GO:0051607]; DNA cytosine deamination [GO:0070383]; DNA demethylation [GO:0080111]; innate immune response [GO:0045087]; negative regulation of single stranded viral RNA replication via double stranded DNA intermediate [GO:0045869]; negative regulation of transposition [GO:0010529]; negative regulation of viral process [GO:0048525]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6NTF7-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q6NTF7-2; Sequence=VSP_035034; Name=3; IsoId=Q6NTF7-3; Sequence=VSP_039975; Name=4; IsoId=Q6NTF7-4; Sequence=VSP_047044; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Cytoplasm, P-body. Note=Haplotype 1 is distributed in both the nucleus and cytoplasm, whereas haplotype 2 is predominantly cytoplasmic.


uniprotID: P30532
geneSymbol: CHRNA5
reactome: R-HSA-629594;R-HSA-629597;
name: Neuronal acetylcholine receptor subunit alpha-5
length: 468
go: ENSG00000169684;
drug: DB00898;DB00674;DB00184;
snps: rs2229961 rs16969968
sequence:

opentargets:
acetylcholine-gated channel complex [GO:0005892]; cell junction [GO:0030054]; dopaminergic synapse [GO:0098691]; integral component of plasma membrane [GO:0005887]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; synapse [GO:0045202]; acetylcholine receptor activity [GO:0015464]; acetylcholine-gated cation-selective channel activity [GO:0022848]; ligand-gated ion channel activity [GO:0015276]; behavioral response to nicotine [GO:0035095]; chemical synaptic transmission [GO:0007268]; ion transmembrane transport [GO:0034220]; nervous system process [GO:0050877]; neuromuscular synaptic transmission [GO:0007274]; regulation of membrane potential [GO:0042391]; regulation of synaptic vesicle exocytosis [GO:2000300]; response to nicotine [GO:0035094]; signal transduction [GO:0007165]; synaptic transmission, cholinergic [GO:0007271]


uniprotID: P53396
geneSymbol: ACLY
reactome: R-HSA-163765;R-HSA-6798695;R-HSA-75105;
pdb: 3MWD;3MWE;3PFF;5TDE;5TDF;5TDM;5TDZ;5TE1;5TEQ;5TES;5TET;
name: ATP-citrate synthase (EC 2.3.3.8) (ATP-citrate (pro-S-)-lyase) (ACL) (Citrate cleavage enzyme)
length: 1101
go: ENSG00000131473;
snps: rs2304497
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
azurophil granule lumen [GO:0035578]; citrate lyase complex [GO:0009346]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; ATP citrate synthase activity [GO:0003878]; cofactor binding [GO:0048037]; metal ion binding [GO:0046872]; acetyl-CoA biosynthetic process [GO:0006085]; cholesterol biosynthetic process [GO:0006695]; citrate metabolic process [GO:0006101]; coenzyme A metabolic process [GO:0015936]; fatty acid biosynthetic process [GO:0006633]; fatty-acyl-CoA biosynthetic process [GO:0046949]; lipid biosynthetic process [GO:0008610]; neutrophil degranulation [GO:0043312]; oxaloacetate metabolic process [GO:0006107]; positive regulation of cellular metabolic process [GO:0031325]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P53396-1; Sequence=Displayed; Name=2; IsoId=P53396-2; Sequence=VSP_042201; Name=3; IsoId=P53396-3; Sequence=VSP_057230, VSP_042201; Note=No experimental confirmation available.; 


uniprotID: O95573
geneSymbol: ACSL3
reactome: R-HSA-75876;
name: Long-chain-fatty-acid--CoA ligase 3 (EC 6.2.1.3) (Long-chain acyl-CoA synthetase 3) (LACS 3)
length: 720
go: ENSG00000123983;
drug: DB00159;
snps: rs1046032
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; lipid droplet [GO:0005811]; membrane [GO:0016020]; mitochondrial outer membrane [GO:0005741]; perinuclear region of cytoplasm [GO:0048471]; peroxisomal membrane [GO:0005778]; ATP binding [GO:0005524]; decanoate-CoA ligase activity [GO:0102391]; long-chain fatty acid-CoA ligase activity [GO:0004467]; protein domain specific binding [GO:0019904]; protein kinase binding [GO:0019901]; brain development [GO:0007420]; fatty acid biosynthetic process [GO:0006633]; long-chain fatty acid import [GO:0044539]; long-chain fatty-acyl-CoA biosynthetic process [GO:0035338]; positive regulation of Golgi to plasma membrane protein transport [GO:0042998]; positive regulation of phosphatidylcholine biosynthetic process [GO:2001247]; positive regulation of secretion [GO:0051047]; response to nutrient [GO:0007584]; response to organic cyclic compound [GO:0014070]; very-low-density lipoprotein particle assembly [GO:0034379]

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000250}; Single-pass type III membrane protein {ECO:0000250}. Peroxisome membrane {ECO:0000250}; Single-pass type III membrane protein {ECO:0000250}. Microsome membrane {ECO:0000250}; Single-pass type III membrane protein {ECO:0000250}. Endoplasmic reticulum membrane {ECO:0000250}; Single-pass type III membrane protein {ECO:0000250}.


uniprotID: Q9UKV3
geneSymbol: ACIN1
reactome: R-HSA-111465;
pdb: 6G6S;
name: Apoptotic chromatin condensation inducer in the nucleus (Acinus)
length: 1341
go: ENSG00000100813;
snps: rs11555803 rs3811182 rs941719 rs1885097 rs3751501 rs754494408
sequence:

opentargets:
ASAP complex [GO:0061574]; cytosol [GO:0005829]; nuclear speck [GO:0016607]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ATPase activity [GO:0016887]; enzyme binding [GO:0019899]; nucleic acid binding [GO:0003676]; RNA binding [GO:0003723]; apoptotic chromosome condensation [GO:0030263]; erythrocyte differentiation [GO:0030218]; mRNA processing [GO:0006397]; negative regulation of mRNA splicing, via spliceosome [GO:0048025]; positive regulation of apoptotic process [GO:0043065]; positive regulation of monocyte differentiation [GO:0045657]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=L; IsoId=Q9UKV3-1; Sequence=Displayed; Name=2; Synonyms=S'; IsoId=Q9UKV3-2; Sequence=VSP_004025, VSP_004028; Name=3; Synonyms=S; IsoId=Q9UKV3-3; Sequence=VSP_004026, VSP_004029; Name=4; IsoId=Q9UKV3-5; Sequence=VSP_042204, VSP_042205; 

location:
SUBCELLULAR LOCATION: Nucleus. Nucleus speckle. Nucleus, nucleoplasm. Note=Phosphorylation on Ser-1180 by SRPK2 redistributes it from the nuclear speckles to the nucleoplasm.


uniprotID: Q12979
geneSymbol: ABR
reactome: R-HSA-193648;R-HSA-194840;R-HSA-416482;
name: Active breakpoint cluster region-related protein
length: 859
go: ENSG00000159842;
snps: rs34169260
sequence:

opentargets:
cytosol [GO:0005829]; glutamatergic synapse [GO:0098978]; membrane [GO:0016020]; plasma membrane [GO:0005886]; Schaffer collateral - CA1 synapse [GO:0098685]; GTPase activator activity [GO:0005096]; guanyl-nucleotide exchange factor activity [GO:0005085]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; actin cytoskeleton organization [GO:0030036]; brain development [GO:0007420]; G protein-coupled receptor signaling pathway [GO:0007186]; inner ear morphogenesis [GO:0042472]; modulation of chemical synaptic transmission [GO:0050804]; negative regulation of blood vessel remodeling [GO:0060313]; negative regulation of cellular extravasation [GO:0002692]; negative regulation of inflammatory response [GO:0050728]; negative regulation of neutrophil degranulation [GO:0043314]; neuromuscular process controlling balance [GO:0050885]; positive regulation of apoptotic process [GO:0043065]; positive regulation of phagocytosis [GO:0050766]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]; regulation of vascular permeability [GO:0043114]; response to lipopolysaccharide [GO:0032496]; small GTPase mediated signal transduction [GO:0007264]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=Long; IsoId=Q12979-1; Sequence=Displayed; Name=Short; IsoId=Q12979-2; Sequence=VSP_001815; Name=3; IsoId=Q12979-3; Sequence=VSP_046029, VSP_046030; Note=No experimental confirmation available.; Name=4; IsoId=Q12979-4; Sequence=VSP_046148; Note=No experimental confirmation available.; 


uniprotID: Q9ULW3
geneSymbol: ABT1
name: Activator of basal transcription 1 (hABT1) (Basal transcriptional activator)
length: 272
go: ENSG00000146109;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Nucleus, nucleolus {ECO:0000250}.
sequence:

opentargets:
nucleolus [GO:0005730]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA binding [GO:0003677]; RNA binding [GO:0003723]; transcription coactivator activity [GO:0003713]; endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000480]; endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000447]; endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000472]; regulation of transcription by RNA polymerase II [GO:0006357]; small-subunit processome assembly [GO:0034462]; spinal cord motor neuron differentiation [GO:0021522]; transcription by RNA polymerase II [GO:0006366]


uniprotID: P30491
geneSymbol: HLA-B
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
pdb: 1A1M;1A1O;
name: HLA class I histocompatibility antigen, B-53 alpha chain (Bw-53) (MHC class I antigen B*53)
length: 362
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:


uniprotID: Q9UH17
geneSymbol: APOBEC3B
reactome: R-HSA-72200;R-HSA-75094;
pdb: 2NBQ;5CQD;5CQH;5CQI;5CQK;5SXG;5SXH;5TD5;5TKM;
length: 382
go: ENSG00000179750;
snps: rs2076109 rs2076110 rs17000697 rs5995649 rs1053813
name:
DNA dC->dU-editing enzyme APOBEC-3B (A3B) (EC 3.5.4.-) (Phorbolin-1-related protein) (Phorbolin-2/3)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; cytidine deaminase activity [GO:0004126]; deoxycytidine deaminase activity [GO:0047844]; RNA binding [GO:0003723]; zinc ion binding [GO:0008270]; cytidine to uridine editing [GO:0016554]; defense response to virus [GO:0051607]; DNA demethylation [GO:0080111]; innate immune response [GO:0045087]; negative regulation of transposition [GO:0010529]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UH17-1; Sequence=Displayed; Name=2; IsoId=Q9UH17-2; Sequence=VSP_009802; Note=May be due to a competing donor splice site.; Name=3; IsoId=Q9UH17-3; Sequence=VSP_044900; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16699599, ECO:0000269|PubMed:18667511, ECO:0000269|PubMed:21835787, ECO:0000269|PubMed:22915799}.


uniprotID: Q969K4
geneSymbol: ABTB1
name: Ankyrin repeat and BTB/POZ domain-containing protein 1 (Elongation factor 1A-binding protein)
length: 478
go: ENSG00000114626;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11494141}.
sequence:

opentargets:
cytosol [GO:0005829]; nucleolus [GO:0005730]; plasma membrane [GO:0005886]; translation elongation factor activity [GO:0003746]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=2 {ECO:0000269|PubMed:10891360, ECO:0000269|PubMed:11494141}; Synonyms=BPOZ-2 {ECO:0000269|PubMed:11494141}; IsoId=Q969K4-1; Sequence=Displayed; Name=1 {ECO:0000269|PubMed:11494141}; Synonyms=BPOZ-1 {ECO:0000269|PubMed:11494141}; IsoId=Q969K4-2; Sequence=VSP_052148; Name=3 {ECO:0000269|PubMed:11494141}; Synonyms=BPOZ-3 {ECO:0000269|PubMed:11494141}; IsoId=Q969K4-3; Sequence=VSP_052149; Name=4 {ECO:0000269|PubMed:14702039}; IsoId=Q969K4-4; Sequence=VSP_052150, VSP_052151, VSP_052152, VSP_052153; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: P18465
geneSymbol: HLA-B
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
name: HLA class I histocompatibility antigen, B-57 alpha chain (Bw-57) (MHC class I antigen B*57)
length: 362
snps: rs1131500 rs1051488 rs2308655 rs2308655
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
pdb:
2BVO;2BVP;2BVQ;2HJL;2RFX;2YPK;2YPL;3UPR;3VH8;3VRI;3VRJ;3WUW;3X11;3X12;5B38;5B39;5T6W;5T6X;5T6Y;5T6Z;5T70;5U98;5V5M;6BXP;6BXQ;

sequence:

opentargets:
cell surface [GO:0009986]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; MHC class I protein complex [GO:0042612]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; peptide antigen binding [GO:0042605]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent [GO:0002480]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; interferon-gamma-mediated signaling pathway [GO:0060333]; protection from natural killer cell mediated cytotoxicity [GO:0042270]; regulation of immune response [GO:0050776]; type I interferon signaling pathway [GO:0060337]


uniprotID: O14678
geneSymbol: ABCD4
reactome: R-HSA-196741;R-HSA-5683329;
length: 606
go: ENSG00000119688;
snps: rs34992370 rs4148077 rs201777056 rs35073715 rs3742801
location: SUBCELLULAR LOCATION: Peroxisome membrane; Multi-pass membrane protein.
name:
ATP-binding cassette sub-family D member 4 (PMP70-related protein) (P70R) (Peroxisomal membrane protein 1-like) (PXMP1-L) (Peroxisomal membrane protein 69) (PMP69)

sequence:

opentargets:
ATP-binding cassette (ABC) transporter complex [GO:0043190]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]; peroxisomal membrane [GO:0005778]; peroxisome [GO:0005777]; ATP binding [GO:0005524]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; cellular response to leukemia inhibitory factor [GO:1990830]; cobalamin metabolic process [GO:0009235]; transmembrane transport [GO:0055085]


uniprotID: P41238
geneSymbol: APOBEC1
reactome: R-HSA-72200;R-HSA-75094;
length: 236
go: ENSG00000111701;
snps: rs2302515 rs12820011
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22580899}.
name:
C->U-editing enzyme APOBEC-1 (EC 3.5.4.36) (Apolipoprotein B mRNA-editing enzyme 1) (HEPR) (mRNA(cytosine(6666)) deaminase 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; AU-rich element binding [GO:0017091]; cytidine deaminase activity [GO:0004126]; cytosine deaminase activity [GO:0004131]; enzyme activator activity [GO:0008047]; mRNA binding [GO:0003729]; protein domain specific binding [GO:0019904]; ribonucleoprotein complex binding [GO:0043021]; RNA binding [GO:0003723]; zinc ion binding [GO:0008270]; cellular response to insulin stimulus [GO:0032869]; cytidine to uridine editing [GO:0016554]; defense response to virus [GO:0051607]; DNA cytosine deamination [GO:0070383]; DNA demethylation [GO:0080111]; lipid metabolic process [GO:0006629]; lipoprotein biosynthetic process [GO:0042158]; lipoprotein transport [GO:0042953]; mRNA modification [GO:0016556]; mRNA processing [GO:0006397]; mRNA stabilization [GO:0048255]; negative regulation of methylation-dependent chromatin silencing [GO:0090310]; negative regulation of triglyceride metabolic process [GO:0090209]; positive regulation of mRNA modification [GO:0090366]; regulation of cell proliferation [GO:0042127]; response to calcium ion [GO:0051592]; response to ethanol [GO:0045471]; response to gamma radiation [GO:0010332]; response to osmotic stress [GO:0006970]; response to zinc ion [GO:0010043]; RNA processing [GO:0006396]; triglyceride metabolic process [GO:0006641]


uniprotID: Q9UGM1
geneSymbol: CHRNA9
reactome: R-HSA-629594;
pdb: 4D01;4UXU;4UY2;
length: 479
go: ENSG00000174343;
drug: DB05069;DB00898;DB00674;DB05137;DB00184;DB05740;DB08837;
snps: rs10024518 rs55633891 rs10009228
name:
Neuronal acetylcholine receptor subunit alpha-9 (Nicotinic acetylcholine receptor subunit alpha-9) (NACHR alpha-9)

sequence:

opentargets:
acetylcholine-gated channel complex [GO:0005892]; cell junction [GO:0030054]; cholinergic synapse [GO:0098981]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic specialization membrane [GO:0099060]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; synapse [GO:0045202]; acetylcholine-gated cation-selective channel activity [GO:0022848]; calcium channel activity [GO:0005262]; ligand-gated ion channel activity [GO:0015276]; transmembrane signaling receptor activity [GO:0004888]; chemical synaptic transmission [GO:0007268]; detection of mechanical stimulus involved in sensory perception of sound [GO:0050910]; inner ear morphogenesis [GO:0042472]; ion transmembrane transport [GO:0034220]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; nervous system process [GO:0050877]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; regulation of membrane potential [GO:0042391]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Cell membrane {ECO:0000269|PubMed:25282151}; Multi-pass membrane protein {ECO:0000305|PubMed:25282151}.


uniprotID: O43184
geneSymbol: ADAM12
reactome: R-HSA-177929;R-HSA-8941237;
length: 909
go: ENSG00000148848;
snps: rs3740199 rs151030407
name:
Disintegrin and metalloproteinase domain-containing protein 12 (ADAM 12) (EC 3.4.24.-) (Meltrin-alpha)

sequence:

opentargets:
extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237]; SH3 domain binding [GO:0017124]; cell adhesion [GO:0007155]; extracellular matrix organization [GO:0030198]; myoblast fusion [GO:0007520]; positive regulation of angiogenesis [GO:0045766]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=12L; IsoId=O43184-1; Sequence=Displayed; Name=2; Synonyms=12S; IsoId=O43184-2; Sequence=VSP_005476, VSP_005477; Name=3; IsoId=O43184-3; Sequence=VSP_031001, VSP_005476, VSP_005477; Note=No experimental confirmation available.; Name=4; IsoId=O43184-4; Sequence=VSP_031001, VSP_031002, VSP_031003; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform 2: Secreted.; SUBCELLULAR LOCATION: Isoform 3: Secreted {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 4: Secreted {ECO:0000305}.


uniprotID: P30481
geneSymbol: HLA-B
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
name: HLA class I histocompatibility antigen, B-44 alpha chain (Bw-44) (MHC class I antigen B*44)
length: 362
snps: rs1050529 rs151341165 rs1050388 rs9266150 rs376871308 rs796093434 rs1131500 rs1051488 rs2308655
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
pdb:
1M6O;1N2R;1SYS;1SYV;3DX6;3DX7;3DX8;3DXA;3KPL;3KPM;3KPN;3KPO;3KPP;3KPQ;3KPR;3KPS;3L3D;3L3G;3L3I;3L3J;3L3K;4JQX;

sequence:


uniprotID: Q4L235
geneSymbol: AASDH
name: Beta-alanine-activating enzyme (EC 6.2.1.-) (Acyl-CoA synthetase family member 4) (Protein NRPS998)
length: 1098
go: ENSG00000157426;
snps: rs34543011 rs34228795 rs3796543 rs3796544 rs3796545 rs12498340 rs8340
sequence:

opentargets:
acid-thiol ligase activity [GO:0016878]; ATP binding [GO:0005524]; amino acid activation for nonribosomal peptide biosynthetic process [GO:0043041]; beta-alanine metabolic process [GO:0019482]; fatty acid metabolic process [GO:0006631]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q4L235-1; Sequence=Displayed; Name=2; IsoId=Q4L235-2; Sequence=VSP_030707; Note=No experimental confirmation available.; Name=3; IsoId=Q4L235-3; Sequence=VSP_030711, VSP_030712; Name=4; IsoId=Q4L235-4; Sequence=VSP_030710, VSP_030713; Note=No experimental confirmation available.; 


uniprotID: Q9UEY8
geneSymbol: ADD3
reactome: R-HSA-5223345;
name: Gamma-adducin (Adducin-like protein 70)
length: 706
go: ENSG00000148700;
snps: rs564185858
sequence:

opentargets:
brush border [GO:0005903]; cell cortex [GO:0005938]; cell-cell junction [GO:0005911]; condensed nuclear chromosome [GO:0000794]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; plasma membrane raft [GO:0044853]; postsynaptic density [GO:0014069]; actin filament binding [GO:0051015]; calmodulin binding [GO:0005516]; spectrin binding [GO:0030507]; structural constituent of cytoskeleton [GO:0005200]; structural molecule activity [GO:0005198]; actin filament bundle assembly [GO:0051017]; barbed-end actin filament capping [GO:0051016]; transmembrane transport [GO:0055085]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms seem to exist.; Name=2; Synonyms=Long; IsoId=Q9UEY8-1; Sequence=Displayed; Name=1; Synonyms=Short; IsoId=Q9UEY8-2; Sequence=VSP_000188; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein; Cytoplasmic side.


uniprotID: Q5VST6
geneSymbol: ABHD17B
length: 288
go: ENSG00000107362;
snps: rs12380380 rs17854317
name:
Alpha/beta hydrolase domain-containing protein 17B (Abhydrolase domain-containing protein 17B) (EC 3.1.2.22)

sequence:

opentargets:
anchored component of postsynaptic density membrane [GO:0099031]; anchored component of postsynaptic recycling endosome membrane [GO:0099033]; cell junction [GO:0030054]; dendritic spine [GO:0043197]; glutamatergic synapse [GO:0098978]; membrane [GO:0016020]; recycling endosome membrane [GO:0055038]; palmitoyl-(protein) hydrolase activity [GO:0008474]; negative regulation of protein localization to microtubule [GO:1902817]; positive regulation of protein localization to endosome [GO:1905668]; protein depalmitoylation [GO:0002084]; protein palmitoylation [GO:0018345]; regulation of dendritic spine maintenance [GO:1902950]; regulation of protein localization to synapse [GO:1902473]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5VST6-1; Sequence=Displayed; Name=2; IsoId=Q5VST6-2; Sequence=VSP_023975; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q7M759}; Lipid-anchor {ECO:0000250|UniProtKB:Q7M759}; Cytoplasmic side {ECO:0000250|UniProtKB:Q7M759}. Recycling endosome membrane {ECO:0000250|UniProtKB:Q7M759}; Lipid-anchor {ECO:0000250|UniProtKB:Q7M759}; Cytoplasmic side {ECO:0000250|UniProtKB:Q7M759}. Cell projection, dendritic spine {ECO:0000250|UniProtKB:Q7M759}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250|UniProtKB:Q7M759}.


uniprotID: P68032
geneSymbol: ACTC1
reactome: R-HSA-390522;
length: 377
go: ENSG00000159251;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
name:
Actin, alpha cardiac muscle 1 (Alpha-cardiac actin) [Cleaved into: Actin, alpha cardiac muscle 1, intermediate form]

sequence:

opentargets:
actin filament [GO:0005884]; actomyosin, actin portion [GO:0042643]; blood microparticle [GO:0072562]; cell body [GO:0044297]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; filopodium [GO:0030175]; focal adhesion [GO:0005925]; glutamatergic synapse [GO:0098978]; I band [GO:0031674]; lamellipodium [GO:0030027]; membrane [GO:0016020]; sarcomere [GO:0030017]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; myosin binding [GO:0017022]; actin filament-based movement [GO:0030048]; actin-myosin filament sliding [GO:0033275]; actomyosin structure organization [GO:0031032]; cardiac muscle contraction [GO:0060048]; cardiac muscle tissue morphogenesis [GO:0055008]; cardiac myofibril assembly [GO:0055003]; heart contraction [GO:0060047]; mesenchyme migration [GO:0090131]; muscle filament sliding [GO:0030049]; negative regulation of apoptotic process [GO:0043066]; positive regulation of gene expression [GO:0010628]; response to ethanol [GO:0045471]; skeletal muscle thin filament assembly [GO:0030240]

snps:
rs121912676 rs759495229 rs193922680 rs121912677 rs267606628 rs121912675 rs121912673 rs267606629 rs121912674 


uniprotID: Q6NVV9
geneSymbol: ADAM5
length: 412
name:
Putative disintegrin and metalloproteinase domain-containing protein 5 (Putative transmembrane metalloproteinase-like, disintegrin-like, and cysteine-rich protein II) (tMDC II)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q6NVV9-1; Sequence=Displayed; Name=2; IsoId=Q6NVV9-2; Sequence=VSP_035340, VSP_035343, VSP_035344; Name=3; IsoId=Q6NVV9-3; Sequence=VSP_035339, VSP_035341; Name=4; IsoId=Q6NVV9-4; Sequence=VSP_035340; Name=5; IsoId=Q6NVV9-5; Sequence=VSP_035340, VSP_035342; Name=6; IsoId=Q6NVV9-6; Sequence=VSP_035345; Name=7; IsoId=Q6NVV9-7; Sequence=VSP_035346; 


uniprotID: Q9Y615
geneSymbol: ACTL7A
pdb: 2XQN;
name: Actin-like protein 7A (Actin-like-7-alpha)
length: 435
go: ENSG00000187003;
snps: rs368653764 rs35995497 rs7872077 rs56031956
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; Golgi apparatus [GO:0005794]; male germ cell nucleus [GO:0001673]; motile cilium [GO:0031514]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; structural constituent of cytoskeleton [GO:0005200]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q9QY84}. Golgi apparatus {ECO:0000250|UniProtKB:Q9QY84}. Cytoplasm {ECO:0000250|UniProtKB:Q9QY84}. Nucleus {ECO:0000250|UniProtKB:Q9QY84}. Note=Detected at the Golgi apparatus during acrosome biogenesis. Detected at the subacrosomal layer in round spermatids. Detected in sperm head and tail. {ECO:0000250|UniProtKB:Q9QY84}.


uniprotID: Q04844
geneSymbol: CHRNE
reactome: R-HSA-629587;
pdb: 2DF9;
name: Acetylcholine receptor subunit epsilon
length: 493
go: ENSG00000108556;
drug: DB00674;
sequence:

opentargets:
acetylcholine-gated channel complex [GO:0005892]; cell junction [GO:0030054]; integral component of plasma membrane [GO:0005887]; neuromuscular junction [GO:0031594]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; synapse [GO:0045202]; acetylcholine receptor activity [GO:0015464]; acetylcholine-gated cation-selective channel activity [GO:0022848]; cation transmembrane transporter activity [GO:0008324]; ligand-gated ion channel activity [GO:0015276]; transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential [GO:1904315]; chemical synaptic transmission [GO:0007268]; ion transmembrane transport [GO:0034220]; muscle contraction [GO:0006936]; nervous system process [GO:0050877]; neuromuscular synaptic transmission [GO:0007274]; regulation of membrane potential [GO:0042391]; response to nicotine [GO:0035094]; signal transduction [GO:0007165]; synaptic transmission, cholinergic [GO:0007271]

snps:
rs372635387 rs4790235 rs193919341 rs28929768 rs121909512 rs121909516 rs121909514 rs28999110 rs759226183 rs121909510 rs121909511 rs121909515 rs121909517 


uniprotID: Q16570
geneSymbol: ACKR1
reactome: R-HSA-375276;
pdb: 4NUU;4NUV;
length: 336
go: ENSG00000213088;
snps: rs12075 rs34599082 rs13962 rs3027020 rs17851570
name:
Atypical chemokine receptor 1 (Duffy antigen/chemokine receptor) (Fy glycoprotein) (GpFy) (Glycoprotein D) (Plasmodium vivax receptor) (CD antigen CD234)

sequence:

opentargets:
early endosome [GO:0005769]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; recycling endosome [GO:0055037]; C-C chemokine binding [GO:0019957]; G protein-coupled receptor activity [GO:0004930]; signaling receptor activity [GO:0038023]; transmembrane signaling receptor activity [GO:0004888]; chemokine-mediated signaling pathway [GO:0070098]; defense response [GO:0006952]; inflammatory response [GO:0006954]; regulation of chemokine production [GO:0032642]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2; IsoId=Q16570-1; Sequence=Displayed; Name=1; IsoId=Q16570-2; Sequence=VSP_001323; 

location:
SUBCELLULAR LOCATION: Early endosome. Recycling endosome. Membrane; Multi-pass membrane protein. Note=Predominantly localizes to endocytic vesicles, and upon stimulation by the ligand is internalized via caveolae. Once internalized, the ligand dissociates from the receptor, and is targeted to degradation while the receptor is recycled back to the cell membrane.


uniprotID: Q9UKU7
geneSymbol: ACAD8
reactome: R-HSA-70895;
pdb: 1RX0;
length: 415
go: ENSG00000151498;
drug: DB03147;DB01675;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:11013134}.
name:
Isobutyryl-CoA dehydrogenase, mitochondrial (EC 1.3.99.-) (Activator-recruited cofactor 42 kDa component) (ARC42) (Acyl-CoA dehydrogenase family member 8) (ACAD-8)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; acyl-CoA dehydrogenase activity [GO:0003995]; flavin adenine dinucleotide binding [GO:0050660]; branched-chain amino acid catabolic process [GO:0009083]; lipid metabolic process [GO:0006629]; valine catabolic process [GO:0006574]

snps:
rs374317179 rs367857040 rs371449613 rs121908418 rs759877257 rs121908422 rs200620279 rs778823613 rs367996531 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UKU7-1; Sequence=Displayed; Name=2; IsoId=Q9UKU7-2; Sequence=VSP_055780, VSP_055781; Note=No experimental confirmation available.; Name=3; IsoId=Q9UKU7-3; Sequence=VSP_055779, VSP_055782; Note=No experimental confirmation available.; 


uniprotID: P30492
geneSymbol: HLA-B
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
name: HLA class I histocompatibility antigen, B-54 alpha chain (Bw-22) (Bw-54) (MHC class I antigen B*54)
length: 362
snps: rs1050570 rs1065386 rs1050393 rs1131215 rs1050388
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:


uniprotID: P61163
geneSymbol: ACTR1A
name: Alpha-centractin (Centractin) (ARP1) (Actin-RPV) (Centrosome-associated actin homolog)
length: 376
go: ENSG00000138107;
reactome:
R-HSA-2132295;R-HSA-2565942;R-HSA-3371497;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-6807878;R-HSA-6811436;R-HSA-8854518;

sequence:

opentargets:
cell cortex region [GO:0099738]; centriole [GO:0005814]; centrosome [GO:0005813]; COPI-coated vesicle [GO:0030137]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dynactin complex [GO:0005869]; extracellular exosome [GO:0070062]; manchette [GO:0002177]; microtubule associated complex [GO:0005875]; microtubule cytoskeleton [GO:0015630]; myelin sheath [GO:0043209]; ATP binding [GO:0005524]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; ciliary basal body-plasma membrane docking [GO:0097711]; ER to Golgi vesicle-mediated transport [GO:0006888]; G2/M transition of mitotic cell cycle [GO:0000086]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; spermatogenesis [GO:0007283]; vesicle-mediated transport [GO:0016192]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:P85515}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843}. Cytoplasm, cell cortex {ECO:0000269|PubMed:22327364}.


uniprotID: Q96CM8
geneSymbol: ACSF2
reactome: R-HSA-77289;
name: Acyl-CoA synthetase family member 2, mitochondrial (EC 6.2.1.-)
length: 615
go: ENSG00000167107;
snps: rs17856448 rs3744523
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
sequence:

opentargets:
mitochondrial matrix [GO:0005759]; acyl-CoA ligase activity [GO:0003996]; ATP binding [GO:0005524]; acyl-CoA metabolic process [GO:0006637]; fatty acid metabolic process [GO:0006631]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96CM8-1; Sequence=Displayed; Name=2; IsoId=Q96CM8-2; Sequence=VSP_055804; Note=No experimental confirmation available.; Name=3; IsoId=Q96CM8-3; Sequence=VSP_055805; Note=No experimental confirmation available.; Name=4; IsoId=Q96CM8-4; Sequence=VSP_055803; Note=No experimental confirmation available.; 


uniprotID: Q6DHV7
geneSymbol: ADAL
reactome: R-HSA-2161541;R-HSA-74217;
name: Adenosine deaminase-like protein (EC 3.5.4.-)
length: 355
go: ENSG00000168803;
sequence:

opentargets:
cytosol [GO:0005829]; adenosine deaminase activity [GO:0004000]; metal ion binding [GO:0046872]; adenosine catabolic process [GO:0006154]; drug metabolic process [GO:0017144]; inosine biosynthetic process [GO:0046103]; nucleotide metabolic process [GO:0009117]; purine-containing compound salvage [GO:0043101]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6DHV7-1; Sequence=Displayed; Name=2; IsoId=Q6DHV7-2; Sequence=VSP_024821; Name=3; IsoId=Q6DHV7-3; Sequence=VSP_042782; 


uniprotID: O60488
geneSymbol: ACSL4
reactome: R-HSA-75876;
name: Long-chain-fatty-acid--CoA ligase 4 (EC 6.2.1.3) (Long-chain acyl-CoA synthetase 4) (LACS 4)
length: 711
go: ENSG00000068366;
drug: DB00159;DB00412;DB00197;
snps: rs753267653 rs122458138
sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; lipid droplet [GO:0005811]; membrane [GO:0016020]; Mitochondria-associated ER Membrane [GO:0044233]; mitochondrial outer membrane [GO:0005741]; neuronal cell body [GO:0043025]; peroxisomal membrane [GO:0005778]; arachidonate-CoA ligase activity [GO:0047676]; ATP binding [GO:0005524]; decanoate-CoA ligase activity [GO:0102391]; long-chain fatty acid-CoA ligase activity [GO:0004467]; very long-chain fatty acid-CoA ligase activity [GO:0031957]; dendritic spine development [GO:0060996]; embryonic process involved in female pregnancy [GO:0060136]; fatty acid transport [GO:0015908]; lipid biosynthetic process [GO:0008610]; lipid metabolic process [GO:0006629]; long-chain fatty-acyl-CoA biosynthetic process [GO:0035338]; negative regulation of prostaglandin secretion [GO:0032307]; positive regulation of cell growth [GO:0030307]; response to interleukin-15 [GO:0070672]; response to nutrient [GO:0007584]; triglyceride biosynthetic process [GO:0019432]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=O60488-1; Sequence=Displayed; Name=Short; IsoId=O60488-2; Sequence=VSP_000238; 

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000250}; Single-pass type III membrane protein {ECO:0000250}. Peroxisome membrane {ECO:0000250}; Single-pass type III membrane protein {ECO:0000250}. Microsome membrane {ECO:0000250}; Single-pass type III membrane protein {ECO:0000250}. Endoplasmic reticulum membrane {ECO:0000250}; Single-pass type III membrane protein {ECO:0000250}.


uniprotID: P35611
geneSymbol: ADD1
reactome: R-HSA-264870;R-HSA-381038;R-HSA-5223345;
name: Alpha-adducin (Erythrocyte adducin subunit alpha)
length: 737
go: ENSG00000087274;
snps: rs2295497 rs4971 rs4972 rs4961 rs4962 rs4963
sequence:

opentargets:
cell-cell adherens junction [GO:0005913]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; F-actin capping protein complex [GO:0008290]; focal adhesion [GO:0005925]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; plasma membrane raft [GO:0044853]; postsynaptic density [GO:0014069]; actin binding [GO:0003779]; actin filament binding [GO:0051015]; cadherin binding [GO:0045296]; calmodulin binding [GO:0005516]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; RNA binding [GO:0003723]; spectrin binding [GO:0030507]; structural molecule activity [GO:0005198]; transcription factor binding [GO:0008134]; actin cytoskeleton organization [GO:0030036]; actin filament bundle assembly [GO:0051017]; barbed-end actin filament capping [GO:0051016]; cell morphogenesis [GO:0000902]; cell volume homeostasis [GO:0006884]; cellular response to calcium ion [GO:0071277]; erythrocyte differentiation [GO:0030218]; hemoglobin metabolic process [GO:0020027]; homeostasis of number of cells within a tissue [GO:0048873]; in utero embryonic development [GO:0001701]; IRE1-mediated unfolded protein response [GO:0036498]; multicellular organism growth [GO:0035264]; positive regulation of adherens junction organization [GO:1903393]; positive regulation of establishment of endothelial barrier [GO:1903142]; positive regulation of protein binding [GO:0032092]; transmembrane transport [GO:0055085]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=P35611-1; Sequence=Displayed; Name=2; IsoId=P35611-2; Sequence=VSP_000175, VSP_000176; Name=3; IsoId=P35611-3; Sequence=VSP_000174; Name=4; IsoId=P35611-4; Sequence=VSP_054420, VSP_000175, VSP_000176; Note=No experimental confirmation available.; Name=5; IsoId=P35611-5; Sequence=VSP_055402, VSP_055403; Note=No experimental confirmation available.; Name=6; IsoId=P35611-6; Sequence=VSP_000174, VSP_000175, VSP_000176; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein; Cytoplasmic side.


uniprotID: P04439
geneSymbol: HLA-A
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-8866654;R-HSA-909733;R-HSA-983170;
pdb: 2XPG;3RL1;3RL2;6ENY;
name: HLA class I histocompatibility antigen, A-3 alpha chain (MHC class I antigen A*3)
length: 365
go: ENSG00000206503;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
cell surface [GO:0009986]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; MHC class I protein complex [GO:0042612]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; beta-2-microglobulin binding [GO:0030881]; peptide antigen binding [GO:0042605]; TAP binding [GO:0046977]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent [GO:0002480]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; immune response [GO:0006955]; interferon-gamma-mediated signaling pathway [GO:0060333]; protein ubiquitination [GO:0016567]; regulation of immune response [GO:0050776]; type I interferon signaling pathway [GO:0060337]

snps:
rs199474430 rs78306866 rs1136688 rs1136695 rs1136700 rs1136702 rs1059488 rs1059509 rs1059516 rs1059520 rs9256983 rs1059542 rs41545519 rs41559916 rs17185861 


uniprotID: P78314
geneSymbol: SH3BP2
pdb: 2CR4;3TWR;
name: SH3 domain-binding protein 2 (3BP-2)
length: 561
go: ENSG00000087266;
snps: rs121909149 rs121909149 rs121909146 rs121909146 rs121909146 rs28938171 rs28938170
sequence:

opentargets:
phosphotyrosine residue binding [GO:0001784]; SH3 domain binding [GO:0017124]; SH3/SH2 adaptor activity [GO:0005070]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Long; IsoId=P78314-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P78314-2; Sequence=VSP_004085, VSP_004086; 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=P78314-3; Sequence=VSP_043636; Note=No experimental confirmation available.; Name=4; IsoId=P78314-4; Sequence=VSP_055046; Note=No experimental confirmation available.; 


uniprotID: P10319
geneSymbol: HLA-B
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
pdb: 5IM7;5INC;5IND;5V5L;
name: HLA class I histocompatibility antigen, B-58 alpha chain (Bw-58) (MHC class I antigen B*58)
length: 362
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:


uniprotID: P0DMS8
geneSymbol: ADORA3
reactome: R-HSA-417973;R-HSA-418594;
pdb: 1OEA;1R7N;
name: Adenosine receptor A3
length: 318
go: ENSG00000282608;
drug: DB00640;DB01223;DB05511;DB00824;
snps: rs746154553 rs35511654 rs2800889
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled adenosine receptor activity [GO:0001609]; activation of adenylate cyclase activity [GO:0007190]; G protein-coupled receptor signaling pathway [GO:0007186]; inflammatory response [GO:0006954]; negative regulation of cell migration [GO:0030336]; negative regulation of cell proliferation [GO:0008285]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; regulation of heart contraction [GO:0008016]; response to wounding [GO:0009611]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=2; Synonyms=A3AR i2 {ECO:0000303|PubMed:27886186}, A3AR {ECO:0000303|PubMed:27886186}; IsoId=P0DMS8-1; Sequence=Displayed; Name=1; Synonyms=TMIGD3 i1 {ECO:0000303|PubMed:27886186}, A3AR i1 {ECO:0000303|PubMed:27886186}; IsoId=P0DMS9-2; Sequence=External; Note=The first exon of TMIGD3 isoform 1 (i1) is shared with the first exon of ADORA3 isoform 2 (A3AR i2, commonly known as A3AR), resulting in a fusion protein. {ECO:0000303|PubMed:27886186}; Name=3; Synonyms=TMIGD3 i3, A3AR i3; IsoId=P0DMS9-1; Sequence=External; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q28309}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: P31946
geneSymbol: YWHAB
pdb: 2BQ0;2C23;4DNK;5N10;6BYK;6GN0;6GN8;6GNJ;6GNK;6GNN;
length: 246
go: ENSG00000166913;
reactome:
R-HSA-111447;R-HSA-1445148;R-HSA-165159;R-HSA-166208;R-HSA-170968;R-HSA-170984;R-HSA-2028269;R-HSA-392517;R-HSA-450385;R-HSA-450513;R-HSA-5625740;R-HSA-5628897;R-HSA-5673000;R-HSA-5674135;R-HSA-5675221;R-HSA-6802946;R-HSA-6802948;R-HSA-6802949;R-HSA-6802952;R-HSA-6802955;R-HSA-75035;

name:
14-3-3 protein beta/alpha (Protein 1054) (Protein kinase C inhibitor protein 1) (KCIP-1) [Cleaved into: 14-3-3 protein beta/alpha, N-terminally processed]

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; melanosome [GO:0042470]; membrane [GO:0016020]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; transcriptional repressor complex [GO:0017053]; cadherin binding [GO:0045296]; enzyme binding [GO:0019899]; histone deacetylase binding [GO:0042826]; identical protein binding [GO:0042802]; phosphoprotein binding [GO:0051219]; phosphoserine residue binding [GO:0050815]; protein C-terminus binding [GO:0008022]; protein domain specific binding [GO:0019904]; protein-containing complex binding [GO:0044877]; cytoplasmic sequestering of protein [GO:0051220]; hippo signaling [GO:0035329]; MAPK cascade [GO:0000165]; membrane organization [GO:0061024]; negative regulation of G protein-coupled receptor signaling pathway [GO:0045744]; negative regulation of protein dephosphorylation [GO:0035308]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of catalytic activity [GO:0043085]; positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway [GO:1900740]; protein heterooligomerization [GO:0051291]; protein targeting [GO:0006605]; regulation of mRNA stability [GO:0043488]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=2;  Name=Long; IsoId=P31946-1; Sequence=Displayed; Name=Short; IsoId=P31946-2; Sequence=VSP_018632; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17081065}. Melanosome {ECO:0000269|PubMed:17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.


uniprotID: P30459
geneSymbol: HLA-A
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-6798695;R-HSA-877300;R-HSA-909733;R-HSA-983170;
name: HLA class I histocompatibility antigen, A-74 alpha chain (Aw-19) (Aw-74) (MHC class I antigen A*74)
length: 365
snps: rs41564012 rs199474430 rs1059509 rs1059516
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
cell surface [GO:0009986]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; MHC class I protein complex [GO:0042612]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; secretory granule membrane [GO:0030667]; beta-2-microglobulin binding [GO:0030881]; peptide antigen binding [GO:0042605]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent [GO:0002480]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; interferon-gamma-mediated signaling pathway [GO:0060333]; neutrophil degranulation [GO:0043312]; regulation of immune response [GO:0050776]; type I interferon signaling pathway [GO:0060337]


uniprotID: P29372
geneSymbol: MPG
reactome: R-HSA-110330;R-HSA-110331;R-HSA-110357;
pdb: 1BNK;1EWN;1F4R;1F6O;3QI5;3UBY;
length: 298
go: ENSG00000103152;
snps: rs3176383 rs2308315 rs2266607 rs25671 rs2308313 rs2308312 rs769193 rs2234949
name:
DNA-3-methyladenine glycosylase (EC 3.2.2.21) (3-alkyladenine DNA glycosylase) (3-methyladenine DNA glycosidase) (ADPG) (N-methylpurine-DNA glycosylase)

sequence:

opentargets:
mitochondrial nucleoid [GO:0042645]; nucleoplasm [GO:0005654]; alkylbase DNA N-glycosylase activity [GO:0003905]; damaged DNA binding [GO:0003684]; DNA N-glycosylase activity [GO:0019104]; DNA-3-methyladenine glycosylase activity [GO:0008725]; DNA-3-methylguanine glycosylase activity [GO:0052822]; DNA-7-methyladenine glycosylase activity [GO:0052821]; DNA-7-methylguanine glycosylase activity [GO:0043916]; base-excision repair [GO:0006284]; depurination [GO:0045007]; DNA dealkylation involved in DNA repair [GO:0006307]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=P29372-1; Sequence=Displayed; Name=2; IsoId=P29372-2; Sequence=VSP_003249, VSP_035485; Name=3; IsoId=P29372-4; Sequence=VSP_003249; Name=4; IsoId=P29372-5; Sequence=VSP_046678; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23290262}. Mitochondrion matrix, mitochondrion nucleoid {ECO:0000269|PubMed:23290262}. Nucleus {ECO:0000269|PubMed:23290262}.


uniprotID: Q9NS82
geneSymbol: SLC7A10
reactome: R-HSA-210991;R-HSA-352230;
name: Asc-type amino acid transporter 1 (Asc-1) (Solute carrier family 7 member 10)
length: 523
go: ENSG00000130876;
snps: rs79717007 rs34663170
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; L-amino acid transmembrane transporter activity [GO:0015179]; L-serine transmembrane transporter activity [GO:0015194]; neutral amino acid transmembrane transporter activity [GO:0015175]; amino acid transport [GO:0006865]; D-alanine transport [GO:0042941]; D-serine transport [GO:0042942]; leukocyte migration [GO:0050900]; neutral amino acid transport [GO:0015804]


uniprotID: Q9Y2T4
geneSymbol: PPP2R2C
length: 447
go: ENSG00000074211;
name:
Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B gamma isoform (IMYPNO1) (PP2A subunit B isoform B55-gamma) (PP2A subunit B isoform PR55-gamma) (PP2A subunit B isoform R2-gamma) (PP2A subunit B isoform gamma)

sequence:

opentargets:
cytosol [GO:0005829]; protein phosphatase type 2A complex [GO:0000159]; protein phosphatase regulator activity [GO:0019888]; mitotic cell cycle [GO:0000278]; peptidyl-serine dephosphorylation [GO:0070262]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9Y2T4-1; Sequence=Displayed; Name=2; IsoId=Q9Y2T4-2; Sequence=VSP_036457; Name=3; IsoId=Q9Y2T4-3; Sequence=VSP_036458; Name=4; IsoId=Q9Y2T4-4; Sequence=VSP_043380; Note=No experimental confirmation available.; 


uniprotID: Q9H0P0
geneSymbol: NT5C3A
reactome: R-HSA-73621;
pdb: 2CN1;2JGA;2VKQ;
length: 336
go: ENSG00000122643;
snps: rs104894025 rs104894028 rs104894029
name:
Cytosolic 5'-nucleotidase 3A (EC 3.1.3.5) (7-methylguanosine phosphate-specific 5'-nucleotidase) (7-methylguanosine nucleotidase) (EC 3.1.3.91) (Cytosolic 5'-nucleotidase 3) (Cytosolic 5'-nucleotidase III) (cN-III) (Pyrimidine 5'-nucleotidase 1) (P5'N-1) (P5N-1) (PN-I) (Uridine 5'-monophosphate hydrolase 1) (p36)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; 5'-nucleotidase activity [GO:0008253]; magnesium ion binding [GO:0000287]; nucleotide binding [GO:0000166]; tRNA 2'-phosphotransferase activity [GO:0000215]; adenosine metabolic process [GO:0046085]; defense response to virus [GO:0051607]; nucleotide metabolic process [GO:0009117]; pyrimidine nucleoside catabolic process [GO:0046135]; pyrimidine nucleoside metabolic process [GO:0006213]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=2; IsoId=Q9H0P0-4; Sequence=Displayed; Name=1; Synonyms=P5N-I; IsoId=Q9H0P0-1; Sequence=VSP_021565; Name=3; Synonyms=p36; IsoId=Q9H0P0-2; Sequence=VSP_015623; Name=4; Synonyms=P5N-R; IsoId=Q9H0P0-3; Sequence=VSP_015624; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 2: Endoplasmic reticulum.


uniprotID: P08908
geneSymbol: HTR1A
reactome: R-HSA-390666;R-HSA-418594;
name: 5-hydroxytryptamine receptor 1A (5-HT-1A) (5-HT1A) (G-21) (Serotonin receptor 1A)
length: 422
go: ENSG00000178394;
snps: rs1800041 rs1799920 rs1799921 rs1800043 rs1800044 rs1800042
sequence:

opentargets:
dendrite [GO:0030425]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled serotonin receptor activity [GO:0004993]; neurotransmitter receptor activity [GO:0030594]; receptor-receptor interaction [GO:0090722]; serotonin binding [GO:0051378]; adenylate cyclase-inhibiting serotonin receptor signaling pathway [GO:0007198]; behavioral fear response [GO:0001662]; cell proliferation [GO:0008283]; chemical synaptic transmission [GO:0007268]; exploration behavior [GO:0035640]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; positive regulation of cell proliferation [GO:0008284]; regulation of behavior [GO:0050795]; regulation of dopamine metabolic process [GO:0042053]; regulation of hormone secretion [GO:0046883]; regulation of serotonin secretion [GO:0014062]; serotonin metabolic process [GO:0042428]; serotonin receptor signaling pathway [GO:0007210]; vasoconstriction [GO:0042310]

drug:
DB01614;DB00866;DB01616;DB00321;DB00543;DB00714;DB01238;DB06216;DB04888;DB08807;DB09128;DB01200;DB00490;DB00248;DB06016;DB00477;DB08810;DB00363;DB04884;DB01151;DB00988;DB01142;DB00216;DB01049;DB00696;DB04908;DB04946;DB00458;DB01221;DB04970;DB05509;DB00589;DB00408;DB08815;DB04829;DB00247;DB06148;DB05339;DB01618;DB00952;DB01149;DB00540;DB00334;DB00904;DB01267;DB01359;DB01186;DB00960;DB01621;DB00413;DB00571;DB01224;DB00734;DB00268;DB05271;DB05280;DB00669;DB01622;DB13025;DB00656;DB00726;DB06684;DB09068;DB01392;DB00246;DB00315;

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22957663, ECO:0000269|PubMed:3041227, ECO:0000269|PubMed:3138543, ECO:0000269|PubMed:8393041}; Multi-pass membrane protein {ECO:0000269|PubMed:22957663, ECO:0000269|PubMed:3041227, ECO:0000269|PubMed:3138543, ECO:0000269|PubMed:8393041}.


uniprotID: Q29836
geneSymbol: HLA-B
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
name: HLA class I histocompatibility antigen, B-67 alpha chain (MHC class I antigen B*67)
length: 362
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
cell surface [GO:0009986]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; ER to Golgi transport vesicle membrane [GO:0012507]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; MHC class I protein complex [GO:0042612]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; peptide antigen binding [GO:0042605]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent [GO:0002480]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; interferon-gamma-mediated signaling pathway [GO:0060333]; regulation of immune response [GO:0050776]; type I interferon signaling pathway [GO:0060337]

snps:
rs1050458 rs1050462 rs1131165 rs1131170 rs1050486 rs713031 rs713031 rs713031 rs1050529 rs1050570 rs1065386 rs1050393 rs1131215 rs1050388 rs1131500 rs1051488 


uniprotID: P61981
geneSymbol: YWHAG
pdb: 2B05;3UZD;4E2E;4J6S;4O46;5D3E;6BYJ;6BYL;6BZD;6FEL;
length: 247
go: ENSG00000170027;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
reactome:
R-HSA-111447;R-HSA-1445148;R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-5625740;R-HSA-5628897;R-HSA-75035;R-HSA-8854518;

name:
14-3-3 protein gamma (Protein kinase C inhibitor protein 1) (KCIP-1) [Cleaved into: 14-3-3 protein gamma, N-terminally processed]

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; membrane [GO:0016020]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; presynapse [GO:0098793]; identical protein binding [GO:0042802]; insulin-like growth factor receptor binding [GO:0005159]; protein domain specific binding [GO:0019904]; protein kinase C binding [GO:0005080]; protein kinase C inhibitor activity [GO:0008426]; receptor tyrosine kinase binding [GO:0030971]; RNA binding [GO:0003723]; cellular response to insulin stimulus [GO:0032869]; ciliary basal body-plasma membrane docking [GO:0097711]; G2/M transition of mitotic cell cycle [GO:0000086]; membrane organization [GO:0061024]; negative regulation of protein kinase activity [GO:0006469]; positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway [GO:1900740]; protein targeting [GO:0006605]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; regulation of neuron differentiation [GO:0045664]; regulation of signal transduction [GO:0009966]; regulation of synaptic plasticity [GO:0048167]


uniprotID: P31947
geneSymbol: SFN
reactome: R-HSA-111447;R-HSA-1445148;R-HSA-5625740;R-HSA-5628897;R-HSA-6804114;R-HSA-75035;
name: 14-3-3 protein sigma (Epithelial cell marker protein 1) (Stratifin)
length: 248
go: ENSG00000175793;
snps: rs11542705
pdb:
1YWT;1YZ5;3IQJ;3IQU;3IQV;3LW1;3MHR;3O8I;3P1N;3P1O;3P1P;3P1Q;3P1R;3P1S;3SMK;3SML;3SMM;3SMN;3SMO;3SP5;3SPR;3T0L;3T0M;3U9X;3UX0;4DAT;4DAU;4DHM;4DHN;4DHO;4DHP;4DHQ;4DHR;4DHS;4DHT;4DHU;4FL5;4FR3;4IEA;4JC3;4JDD;4QLI;4Y32;4Y3B;4Y5I;5BTV;5HF3;5LTW;5LU1;5LU2;5MHC;5MOC;5MXO;5MY9;5MYC;5N5R;5N5T;5N5W;5N75;5OEG;5OEH;5OK9;5OKF;5OM0;5OMA;6FAU;6FAV;6FAW;6FBB;6FBW;6FBY;6FCP;6FI4;6FI5;6GHP;

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; cadherin binding [GO:0045296]; identical protein binding [GO:0042802]; phosphoprotein binding [GO:0051219]; protein domain specific binding [GO:0019904]; protein kinase binding [GO:0019901]; protein kinase C inhibitor activity [GO:0008426]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; establishment of skin barrier [GO:0061436]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; keratinization [GO:0031424]; keratinocyte development [GO:0003334]; membrane organization [GO:0061024]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of keratinocyte proliferation [GO:0010839]; negative regulation of protein kinase activity [GO:0006469]; positive regulation of cell growth [GO:0030307]; positive regulation of epidermal cell differentiation [GO:0045606]; positive regulation of protein export from nucleus [GO:0046827]; positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway [GO:1900740]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; regulation of epidermal cell division [GO:0010482]; release of cytochrome c from mitochondria [GO:0001836]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P31947-1; Sequence=Displayed; Name=2; IsoId=P31947-2; Sequence=VSP_021768; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus {ECO:0000250}. Secreted. Note=May be secreted by a non-classical secretory pathway.


uniprotID: P10316
geneSymbol: HLA-A
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
length: 365
snps: rs199474430 rs78306866 rs1136688
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
HLA class I histocompatibility antigen, A-69 alpha chain (Aw-69) (HLA class I histocompatibility antigen, A-28 alpha chain) (MHC class I antigen A*69)

sequence:

opentargets:
cell surface [GO:0009986]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; ER to Golgi transport vesicle membrane [GO:0012507]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; MHC class I protein complex [GO:0042612]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; beta-2-microglobulin binding [GO:0030881]; peptide antigen binding [GO:0042605]; RNA binding [GO:0003723]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent [GO:0002480]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; interferon-gamma-mediated signaling pathway [GO:0060333]; regulation of immune response [GO:0050776]; type I interferon signaling pathway [GO:0060337]


uniprotID: Q15172
geneSymbol: PPP2R5A
length: 486
go: ENSG00000066027;
reactome:
R-HSA-141444;R-HSA-195253;R-HSA-196299;R-HSA-2467813;R-HSA-2500257;R-HSA-389513;R-HSA-432142;R-HSA-4641262;R-HSA-5339716;R-HSA-5358747;R-HSA-5358749;R-HSA-5358751;R-HSA-5358752;R-HSA-5467337;R-HSA-5467340;R-HSA-5467348;R-HSA-5663220;R-HSA-5673000;R-HSA-5675221;R-HSA-6811558;R-HSA-68877;

name:
Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoform (PP2A B subunit isoform B'-alpha) (PP2A B subunit isoform B56-alpha) (PP2A B subunit isoform PR61-alpha) (PR61alpha) (PP2A B subunit isoform R5-alpha)

sequence:

opentargets:
centrosome [GO:0005813]; chromosome, centromeric region [GO:0000775]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; M band [GO:0031430]; membrane [GO:0016020]; nucleus [GO:0005634]; protein phosphatase type 2A complex [GO:0000159]; Z disc [GO:0030018]; kinase binding [GO:0019900]; phosphoprotein phosphatase activity [GO:0004721]; protein phosphatase activator activity [GO:0072542]; protein phosphatase regulator activity [GO:0019888]; negative regulation of lipid kinase activity [GO:0090219]; negative regulation of protein localization to plasma membrane [GO:1903077]; positive regulation of protein dephosphorylation [GO:0035307]; protein dephosphorylation [GO:0006470]; regulation of protein autophosphorylation [GO:0031952]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15172-1; Sequence=Displayed; Name=2; IsoId=Q15172-2; Sequence=VSP_042889; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:8703017}. Nucleus {ECO:0000269|PubMed:8703017}. Chromosome, centromere {ECO:0000269|PubMed:16541025}. Note=From mitotic prophase to metaphase, localizes at the inner centromere between a pair of sister kinetochores. Decreased expression at the onset of anaphase. {ECO:0000269|PubMed:16541025}.


uniprotID: Q29940
geneSymbol: HLA-B
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
name: HLA class I histocompatibility antigen, B-59 alpha chain (MHC class I antigen B*59)
length: 362
snps: rs1050529 rs1050570 rs1065386
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:


uniprotID: P04229
geneSymbol: HLA-DRB1
reactome: R-HSA-202424;R-HSA-202427;R-HSA-202430;R-HSA-202433;R-HSA-2132295;R-HSA-389948;R-HSA-877300;
length: 266
drug: DB05259;
pdb:
1AQD;1DLH;1FYT;1HXY;1JWM;1JWS;1JWU;1KG0;1KLG;1KLU;1LO5;1PYW;1R5I;1SEB;1SJE;1SJH;1T5W;1T5X;2FSE;2G9H;2IAM;2IAN;2ICW;2IPK;2OJE;2XN9;3L6F;3PDO;3PGC;3PGD;3QXA;3QXD;3S4S;3S5L;4AEN;4AH2;4C56;4E41;4FQX;4GBX;4I5B;4OV5;4X5W;4X5X;6CQJ;6CQR;

name:
HLA class II histocompatibility antigen, DRB1-1 beta chain (MHC class II antigen DRB1*1) (DR-1) (DR1)

sequence:

opentargets:
clathrin-coated endocytic vesicle membrane [GO:0030669]; endocytic vesicle membrane [GO:0030666]; ER to Golgi transport vesicle membrane [GO:0012507]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; late endosome membrane [GO:0031902]; 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 protein complex binding [GO:0023026]; peptide antigen binding [GO:0042605]; virus receptor activity [GO:0001618]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; detection of bacterium [GO:0016045]; humoral immune response mediated by circulating immunoglobulin [GO:0002455]; immune response [GO:0006955]; immunoglobulin production involved in immunoglobulin mediated immune response [GO:0002381]; inflammatory response to antigenic stimulus [GO:0002437]; interferon-gamma-mediated signaling pathway [GO:0060333]; negative regulation of interferon-gamma production [GO:0032689]; negative regulation of T cell proliferation [GO:0042130]; positive regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0035774]; protein tetramerization [GO:0051262]; regulation of interleukin-10 secretion [GO:2001179]; regulation of interleukin-4 production [GO:0032673]; T cell receptor signaling pathway [GO:0050852]; T-helper 1 type immune response [GO:0042088]

snps:
rs707953 rs9270299 rs1141741 rs16822820 rs1059586 rs17881965 rs17879599 rs17878857 rs16822805 rs16822512 rs17424145 rs1059633 rs701829 rs3205588 rs9269744 


uniprotID: Q29963
geneSymbol: HLA-C
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
pdb: 5W67;5W69;5W6A;
name: HLA class I histocompatibility antigen, Cw-6 alpha chain (MHC class I antigen Cw*6)
length: 366
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

snps:
rs9264668 rs1050438 rs707911 rs707911 rs707911 rs1050409 rs1065382 rs28626310 rs41543814 rs2308574 rs1131103 rs1050276 


uniprotID: Q13541
geneSymbol: EIF4EBP1
reactome: R-HSA-166208;R-HSA-72662;
length: 118
go: ENSG00000187840;
pdb:
1EJ4;1EJH;1WKW;2JGB;2JGC;2V8W;2V8X;2V8Y;3HXG;3HXI;3M93;3M94;3U7X;4UED;5BXV;5EKV;5NVN;5WBJ;6BCU;6BCX;

name:
Eukaryotic translation initiation factor 4E-binding protein 1 (4E-BP1) (eIF4E-binding protein 1) (Phosphorylated heat- and acid-stable protein regulated by insulin 1) (PHAS-I)

sequence:
MSGGSSCSQTPSRAIPATRRVVLGDGVQLPPGDYSTTPGGTLFSTTPGGTRIIYDRKFLMECRNSPVTKTPPRDLPTIPGVTSPSSDEPPMEASQSHLRNSPEDKRAGGEESQFEMDI

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; eukaryotic initiation factor 4E binding [GO:0008190]; translation repressor activity [GO:0030371]; cellular response to dexamethasone stimulus [GO:0071549]; G1/S transition of mitotic cell cycle [GO:0000082]; insulin receptor signaling pathway [GO:0008286]; IRES-dependent translational initiation of linear mRNA [GO:0002192]; negative regulation of translational initiation [GO:0045947]; positive regulation of mitotic cell cycle [GO:0045931]; TOR signaling [GO:0031929]


uniprotID: P30504
geneSymbol: HLA-C
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-2172127;R-HSA-877300;R-HSA-909733;R-HSA-983170;
pdb: 1IM9;1QQD;
name: HLA class I histocompatibility antigen, Cw-4 alpha chain (MHC class I antigen Cw*4)
length: 366
snps: rs1065382 rs28626310 rs41543814 rs1131103 rs1050276
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
cell surface [GO:0009986]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; MHC class I protein complex [GO:0042612]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; peptide antigen binding [GO:0042605]; TAP binding [GO:0046977]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent [GO:0002480]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; innate immune response [GO:0045087]; interferon-gamma-mediated signaling pathway [GO:0060333]; regulation of immune response [GO:0050776]; type I interferon signaling pathway [GO:0060337]; viral process [GO:0016032]


uniprotID: P30154
geneSymbol: PPP2R1B
length: 601
go: ENSG00000137713;
snps: rs142771326 rs1805076 rs1442893893 rs973682124
reactome:
R-HSA-113501;R-HSA-141444;R-HSA-163685;R-HSA-163767;R-HSA-180024;R-HSA-195253;R-HSA-196299;R-HSA-198753;R-HSA-202670;R-HSA-2465910;R-HSA-2467813;R-HSA-2500257;R-HSA-389513;R-HSA-432142;R-HSA-4641262;R-HSA-5339716;R-HSA-5358747;R-HSA-5358749;R-HSA-5358751;R-HSA-5358752;R-HSA-5467337;R-HSA-5467340;R-HSA-5467348;R-HSA-5663220;R-HSA-5673000;R-HSA-5675221;R-HSA-6804757;R-HSA-6811558;R-HSA-68877;R-HSA-69231;R-HSA-69273;R-HSA-70171;

name:
Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A beta isoform (PP2A subunit A isoform PR65-beta) (PP2A subunit A isoform R1-beta)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; membrane raft [GO:0045121]; protein phosphatase type 2A complex [GO:0000159]; protein phosphatase regulator activity [GO:0019888]; apoptotic process involved in morphogenesis [GO:0060561]; positive regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001241]; protein dephosphorylation [GO:0006470]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=P30154-1; Sequence=Displayed; Name=2; IsoId=P30154-2; Sequence=VSP_036460; Name=3; IsoId=P30154-3; Sequence=VSP_043379, VSP_036460; Note=No experimental confirmation available.; Name=4; IsoId=P30154-4; Sequence=VSP_045275; Note=No experimental confirmation available.; Name=5; IsoId=P30154-5; Sequence=VSP_046684; 


uniprotID: P30450
geneSymbol: HLA-A
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
name: HLA class I histocompatibility antigen, A-26 alpha chain (MHC class I antigen A*26)
length: 365
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
cell surface [GO:0009986]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; MHC class I protein complex [GO:0042612]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; beta-2-microglobulin binding [GO:0030881]; peptide antigen binding [GO:0042605]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent [GO:0002480]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; interferon-gamma-mediated signaling pathway [GO:0060333]; regulation of immune response [GO:0050776]; type I interferon signaling pathway [GO:0060337]

snps:
rs3173429 rs199474430 rs199474436 rs78306866 rs1071742 rs1136688 rs1136700 rs1136702 rs1059488 rs3173419 rs1059509 rs1059516 rs1059520 rs9256983 rs9260155 rs1059542 rs3129017 rs1136949 


uniprotID: Q8NHS2
geneSymbol: GOT1L1
length: 421
go: ENSG00000169154;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Putative aspartate aminotransferase, cytoplasmic 2 (EC 2.6.1.-) (Glutamate oxaloacetate transaminase 1-like protein 1) (Transaminase A-like protein 1)

sequence:

opentargets:
cytosol [GO:0005829]; L-aspartate:2-oxoglutarate aminotransferase activity [GO:0004069]; pyridoxal phosphate binding [GO:0030170]; aspartate biosynthetic process [GO:0006532]


uniprotID: Q09160
geneSymbol: HLA-A
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
length: 365
snps: rs1136695 rs1136700 rs1136702 rs1059488 rs1059509 rs1059516 rs1059520 rs17185861
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
HLA class I histocompatibility antigen, A-80 alpha chain (Aw-80) (HLA class I histocompatibility antigen, A-1 alpha chain) (MHC class I antigen A*80)

sequence:

opentargets:
cell surface [GO:0009986]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; integral component of plasma membrane [GO:0005887]; MHC class I protein complex [GO:0042612]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; beta-2-microglobulin binding [GO:0030881]; peptide antigen binding [GO:0042605]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent [GO:0002480]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; immune response [GO:0006955]; interferon-gamma-mediated signaling pathway [GO:0060333]; regulation of immune response [GO:0050776]; type I interferon signaling pathway [GO:0060337]


uniprotID: P30447
geneSymbol: HLA-A
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
length: 365
snps: rs17185861
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
HLA class I histocompatibility antigen, A-23 alpha chain (HLA class I histocompatibility antigen, A-9 alpha chain) (MHC class I antigen A*23)

sequence:

opentargets:
cell surface [GO:0009986]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; MHC class I protein complex [GO:0042612]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; beta-2-microglobulin binding [GO:0030881]; peptide antigen binding [GO:0042605]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent [GO:0002480]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; interferon-gamma-mediated signaling pathway [GO:0060333]; protection from natural killer cell mediated cytotoxicity [GO:0042270]; regulation of immune response [GO:0050776]; type I interferon signaling pathway [GO:0060337]


uniprotID: Q676U5
geneSymbol: ATG16L1
reactome: R-HSA-1632852;
pdb: 4GDK;4GDL;4NAW;4TQ0;5D7G;5NPV;5NPW;5NUV;
name: Autophagy-related protein 16-1 (APG16-like 1)
length: 607
go: ENSG00000085978;
snps: rs2241880 rs1866878
sequence:

opentargets:
autophagosome [GO:0005776]; autophagosome membrane [GO:0000421]; axoneme [GO:0005930]; cytosol [GO:0005829]; phagophore assembly site membrane [GO:0034045]; GTPase binding [GO:0051020]; identical protein binding [GO:0042802]; ubiquitin-like protein transferase activity [GO:0019787]; autophagosome assembly [GO:0000045]; macroautophagy [GO:0016236]; negative stranded viral RNA replication [GO:0039689]; protein homooligomerization [GO:0051260]; protein lipidation involved in autophagosome assembly [GO:0061739]; protein localization to phagophore assembly site [GO:0034497]; protein transport [GO:0015031]; xenophagy [GO:0098792]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=APG16L beta; IsoId=Q676U5-1; Sequence=Displayed; Name=2; IsoId=Q676U5-2; Sequence=VSP_013386; Name=3; IsoId=Q676U5-3; Sequence=VSP_013387, VSP_013388; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=4; IsoId=Q676U5-4; Sequence=VSP_013389, VSP_013390; Note=No experimental confirmation available.; Name=5; IsoId=Q676U5-5; Sequence=VSP_013389, VSP_013386; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23392225}. Preautophagosomal structure membrane {ECO:0000269|PubMed:20639872, ECO:0000269|PubMed:23392225}; Peripheral membrane protein {ECO:0000250}. Note=Recruited to omegasomes membranes by WIPI2. Omegasomes are endoplasmic reticulum connected strutures at the origin of preautophagosomal structures. Localized to preautophagosomal structure (PAS) where it is involved in the membrane targeting of ATG5. Localizes also to discrete punctae along the ciliary axoneme. {ECO:0000250|UniProtKB:Q8C0J2}.


uniprotID: U3KPV4
geneSymbol: A3GALT2
length: 340
go: ENSG00000184389;
name:
Alpha-1,3-galactosyltransferase 2 (EC 2.4.1.87) (Isoglobotriaosylceramide synthase) (iGb3 synthase) (iGb3S)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi cisterna membrane [GO:0032580]; integral component of membrane [GO:0016021]; vesicle [GO:0031982]; metal ion binding [GO:0046872]; N-acetyllactosaminide 3-alpha-galactosyltransferase activity [GO:0047276]; transferase activity, transferring glycosyl groups [GO:0016757]; carbohydrate metabolic process [GO:0005975]; glycosphingolipid biosynthetic process [GO:0006688]; lipid glycosylation [GO:0030259]

location:
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane {ECO:0000250|UniProtKB:A0A4Z3}; Single-pass type II membrane protein {ECO:0000250|UniProtKB:A0A4Z3}. Note=Also found in numerous large vesicles throughout the cytoplasm of the soma. {ECO:0000250|UniProtKB:A0A4Z3}.


uniprotID: P28221
geneSymbol: HTR1D
reactome: R-HSA-390666;R-HSA-418594;
length: 377
go: ENSG00000179546;
snps: rs6299
name:
5-hydroxytryptamine receptor 1D (5-HT-1D) (5-HT1D) (Serotonin 1D alpha receptor) (5-HT-1D-alpha) (Serotonin receptor 1D)

sequence:

opentargets:
dendrite [GO:0030425]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled serotonin receptor activity [GO:0004993]; neurotransmitter receptor activity [GO:0030594]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; chemical synaptic transmission [GO:0007268]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; intestine smooth muscle contraction [GO:0014827]; regulation of behavior [GO:0050795]; regulation of locomotion [GO:0040012]; vasoconstriction [GO:0042310]

drug:
DB00918;DB00321;DB00714;DB01238;DB01200;DB00248;DB00363;DB00320;DB00216;DB01049;DB00696;DB00998;DB01221;DB00589;DB00408;DB05743;DB00952;DB06096;DB00334;DB01267;DB01186;DB00413;DB01224;DB00734;DB00953;DB00268;DB00669;DB13025;DB00726;DB01392;DB00246;DB00315;

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10452531, ECO:0000269|PubMed:1565658, ECO:0000269|PubMed:1652050}; Multi-pass membrane protein {ECO:0000269|PubMed:10452531, ECO:0000269|PubMed:1565658, ECO:0000269|PubMed:1652050}.


uniprotID: P01892
geneSymbol: HLA-A
name: HLA class I histocompatibility antigen, A-2 alpha chain (MHC class I antigen A*2)
length: 365
drug: DB02740;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
reactome:
R-HSA-1236974;R-HSA-1236977;R-HSA-164940;R-HSA-198933;R-HSA-877300;R-HSA-8866654;R-HSA-909733;R-HSA-983170;

pdb:
1AKJ;1AO7;1AQD;1B0G;1B0R;1BD2;1DUY;1DUZ;1EEY;1EEZ;1HHG;1HHH;1HHI;1HHJ;1HHK;1HLA;1I1F;1I1Y;1I4F;1I7R;1I7T;1I7U;1IM3;1JF1;1JHT;1LP9;1OGA;1P7Q;1QEW;1QR1;1QRN;1QSE;1QSF;1S8D;1S9W;1S9X;1S9Y;1T1W;1T1X;1T1Y;1T1Z;1T20;1T21;1T22;1TVB;1TVH;1UR7;2AV1;2AV7;2BNQ;2BNR;2C7U;2CLR;2F53;2F54;2GIT;2GJ6;2GT9;2GTW;2GTZ;2GUO;2J8U;2JCC;2P5E;2P5W;2PYE;2UWE;2V2W;2V2X;2VLJ;2VLK;2VLL;2VLR;2X4N;2X4O;2X4P;2X4Q;2X4R;2X4S;2X4T;2X4U;2X70;3BGM;3BH8;3BH9;3BHB;3D25;3D39;3D3V;3FQN;3FQR;3FQT;3FQU;3FQW;3FQX;3FT2;3FT3;3FT4;3GIV;3GJF;3GSN;3GSO;3GSQ;3GSR;3GSU;3GSV;3GSW;3GSX;3H7B;3H9H;3H9S;3HAE;3HLA;3HPJ;3I6G;3I6K;3IXA;3KLA;3MGO;3MGT;3MR9;3MRB;3MRC;3MRD;3MRE;3MRF;3MRG;3MRH;3MRI;3MRJ;3MRK;3MRL;3MRM;3MRN;3MRO;3MRP;3MRQ;3MRR;3MYJ;3O3A;3O3B;3O3D;3O3E;3O4L;3PWJ;3PWL;3PWN;3PWP;3QDG;3QDJ;3QDM;3QEQ;3QFD;3QFJ;3REW;3TO2;3UTQ;3UTS;3UTT;3V5D;3V5H;3V5K;4E5X;4EMZ;4EN2;4EUP;4FTV;4GKN;4GKS;4I4W;4JFD;4JFE;4JFF;4JFO;4JFP;4JFQ;4K7F;4L29;4L3C;4L3E;4MNQ;4NNX;4NNY;4NO0;4NO2;4NO3;4NO5;4OV5;4QOK;4U6X;4U6Y;4UQ3;4WJ5;4WUU;5C07;5C08;5C09;5C0A;5C0B;5C0C;5C0D;5C0E;5C0F;5C0G;5C0I;5C0J;5D2L;5D2N;5D9S;5DDH;5E00;5E6I;5E9D;5ENW;5EOT;5EU3;5EU4;5EU5;5EU6;5EUO;5F7D;5F9J;5FA3;5FA4;5FDW;5HHM;5HHN;5HHO;5HHP;5HHQ;5HYJ;5IRO;5ISZ;5JHD;5JZI;5MEN;5MEO;5MEP;5MEQ;5MER;5N1Y;5N6B;5NHT;5NME;5NMF;5NMG;5NMH;5NMK;5NQK;5SWQ;5TEZ;5W1W;5WSH;6AM5;6AMT;6AMU;6APN;

sequence:

opentargets:
cell surface [GO:0009986]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum exit site [GO:0070971]; endoplasmic reticulum membrane [GO:0005789]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi apparatus [GO:0005794]; Golgi medial cisterna [GO:0005797]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; MHC class I protein complex [GO:0042612]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; beta-2-microglobulin binding [GO:0030881]; peptide antigen binding [GO:0042605]; RNA binding [GO:0003723]; signaling receptor binding [GO:0005102]; T cell receptor binding [GO:0042608]; TAP binding [GO:0046977]; antibacterial humoral response [GO:0019731]; antigen processing and presentation of endogenous peptide antigen via MHC class I [GO:0019885]; antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent [GO:0002486]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent [GO:0002480]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; defense response to Gram-positive bacterium [GO:0050830]; interferon-gamma-mediated signaling pathway [GO:0060333]; positive regulation of CD8-positive, alpha-beta T cell activation [GO:2001187]; positive regulation of CD8-positive, alpha-beta T cell proliferation [GO:2000566]; positive regulation of interferon-gamma production [GO:0032729]; positive regulation of memory T cell activation [GO:2000568]; positive regulation of T cell cytokine production [GO:0002726]; positive regulation of T cell mediated cytotoxicity [GO:0001916]; protein heterotetramerization [GO:0051290]; protein ubiquitination [GO:0016567]; regulation of defense response to virus by virus [GO:0050690]; regulation of immune response [GO:0050776]; type I interferon signaling pathway [GO:0060337]

snps:
rs2075684 rs41549215 rs41557613 rs41559117 rs199474430 rs199474436 rs78306866 rs199474457 rs1136683 rs1071743 rs199474485 rs1136697 rs1136697 rs1136702 rs41549316 rs1059526 rs9256983 rs9260156 rs879577815 rs3098019 rs41540417 


uniprotID: P16188
geneSymbol: HLA-A
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
name: HLA class I histocompatibility antigen, A-30 alpha chain (MHC class I antigen A*30)
length: 365
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
cell surface [GO:0009986]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; ER to Golgi transport vesicle membrane [GO:0012507]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; integral component of plasma membrane [GO:0005887]; MHC class I protein complex [GO:0042612]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; beta-2-microglobulin binding [GO:0030881]; peptide antigen binding [GO:0042605]; TAP binding [GO:0046977]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent [GO:0002480]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; immune response [GO:0006955]; interferon-gamma-mediated signaling pathway [GO:0060333]; regulation of immune response [GO:0050776]; type I interferon signaling pathway [GO:0060337]

snps:
rs199474430 rs78306866 rs1136688 rs1136695 rs1136700 rs1136702 rs1059488 rs1059509 rs1059516 rs17185861 


uniprotID: Q8NAA4
geneSymbol: ATG16L2
name: Autophagy-related protein 16-2 (APG16-like 2) (WD repeat-containing protein 80)
length: 619
go: ENSG00000168010;
snps: rs11235604
sequence:

opentargets:
autophagosome membrane [GO:0000421]; nucleoplasm [GO:0005654]; autophagosome assembly [GO:0000045]; negative stranded viral RNA replication [GO:0039689]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NAA4-1; Sequence=Displayed; Name=2; IsoId=Q8NAA4-2; Sequence=VSP_033904; Note=No experimental confirmation available.; Name=3; IsoId=Q8NAA4-3; Sequence=VSP_033905; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Note=Localizes also to discrete punctae along the ciliary axoneme. {ECO:0000250}.


uniprotID: O95336
geneSymbol: PGLS
reactome: R-HSA-71336;
name: 6-phosphogluconolactonase (6PGL) (EC 3.1.1.31)
length: 258
go: ENSG00000130313;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; 6-phosphogluconolactonase activity [GO:0017057]; carbohydrate metabolic process [GO:0005975]; pentose-phosphate shunt [GO:0006098]; pentose-phosphate shunt, oxidative branch [GO:0009051]


uniprotID: P02763
geneSymbol: ORM1
reactome: R-HSA-114608;R-HSA-6798695;
pdb: 3KQ0;
name: Alpha-1-acid glycoprotein 1 (AGP 1) (Orosomucoid-1) (OMD 1)
length: 201
snps: rs3182034 rs1126801
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
blood microparticle [GO:0072562]; collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; platelet alpha granule lumen [GO:0031093]; specific granule lumen [GO:0035580]; tertiary granule lumen [GO:1904724]; acute-phase response [GO:0006953]; inflammatory response [GO:0006954]; negative regulation of interleukin-6 production [GO:0032715]; negative regulation of tumor necrosis factor production [GO:0032720]; neutrophil degranulation [GO:0043312]; platelet degranulation [GO:0002576]; positive regulation of interleukin-1 beta secretion [GO:0050718]; positive regulation of interleukin-1 secretion [GO:0050716]; positive regulation of tumor necrosis factor secretion [GO:1904469]; regulation of immune system process [GO:0002682]

drug:
DB05812;DB01418;DB01426;DB00802;DB00321;DB00543;DB01429;DB01156;DB08907;DB00482;DB00477;DB01151;DB00280;DB00590;DB01142;DB00530;DB00472;DB00317;DB00619;DB00458;DB08820;DB00934;DB08893;DB00731;DB04821;DB00540;DB00334;DB00497;DB01359;DB00454;DB00946;DB08860;DB00457;DB00571;DB00908;DB08931;DB01232;DB00864;DB00706;DB05521;DB01041;DB00656;DB08867;DB05294;DB08881;DB08828;DB00682;


uniprotID: Q5T5F5
geneSymbol: ADAMTSL4-AS1
name: Uncharacterized protein ADAMTSL4-AS1 (ADAMTSL4 antisense RNA 1) (ADAMTSL4 antisense gene protein 1)
length: 129
sequence:
MWLWQDIQCCPAPPSAPPRALEPGRAPPPPGEGLGAGIPSLSPPQKKPQSVGICVRQKGRQKAGLEKGNRKKELRQANCPSLRPQRKGADTRRLPRETRPTKKRTAAAQPFLQLWNPAPHTSNGRTGDL


uniprotID: P18462
geneSymbol: HLA-A
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
length: 365
snps: rs2075684 rs1059509 rs1059516
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
HLA class I histocompatibility antigen, A-25 alpha chain (HLA class I histocompatibility antigen, A-10 alpha chain) (MHC class I antigen A*25)

sequence:


uniprotID: Q8WWZ7
geneSymbol: ABCA5
reactome: R-HSA-1369062;
name: ATP-binding cassette sub-family A member 5
length: 1642
go: ENSG00000154265;
drug: DB00864;
snps: rs12383 rs11544715 rs17686569 rs9898003 rs536009 rs557491 rs11544716
sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; late endosome [GO:0005770]; late endosome membrane [GO:0031902]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; ATP binding [GO:0005524]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; lipid transporter activity [GO:0005319]; cholesterol efflux [GO:0033344]; high-density lipoprotein particle remodeling [GO:0034375]; lipid transport [GO:0006869]; negative regulation of macrophage derived foam cell differentiation [GO:0010745]; reverse cholesterol transport [GO:0043691]; transmembrane transport [GO:0055085]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8WWZ7-1; Sequence=Displayed; Name=2; Synonyms=V20+16; IsoId=Q8WWZ7-2; Sequence=VSP_020691, VSP_020692; Name=3; IsoId=Q8WWZ7-3; Sequence=VSP_020690; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Lysosome membrane; Multi-pass membrane protein. Late endosome membrane; Multi-pass membrane protein. Golgi apparatus membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.


uniprotID: P54646
geneSymbol: PRKAA2
pdb: 2H6D;2LTU;2YZA;3AQV;4CFE;4CFF;4ZHX;5EZV;5ISO;6B1U;6B2E;6BX6;
length: 552
go: ENSG00000162409;
drug: DB00945;
reactome:
R-HSA-1445148;R-HSA-1632852;R-HSA-163680;R-HSA-200425;R-HSA-2151209;R-HSA-380972;R-HSA-5628897;R-HSA-6804756;

name:
5'-AMP-activated protein kinase catalytic subunit alpha-2 (AMPK subunit alpha-2) (EC 2.7.11.1) (Acetyl-CoA carboxylase kinase) (ACACA kinase) (EC 2.7.11.27) (Hydroxymethylglutaryl-CoA reductase kinase) (HMGCR kinase) (EC 2.7.11.31)

sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; dendrite [GO:0030425]; Golgi apparatus [GO:0005794]; neuronal cell body [GO:0043025]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleotide-activated protein kinase complex [GO:0031588]; nucleus [GO:0005634]; [acetyl-CoA carboxylase] kinase activity [GO:0050405]; [hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity [GO:0047322]; AMP-activated protein kinase activity [GO:0004679]; ATP binding [GO:0005524]; chromatin binding [GO:0003682]; histone serine kinase activity [GO:0035174]; metal ion binding [GO:0046872]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; protein serine/threonine/tyrosine kinase activity [GO:0004712]; cell cycle arrest [GO:0007050]; cellular response to calcium ion [GO:0071277]; cellular response to drug [GO:0035690]; cellular response to glucose starvation [GO:0042149]; cellular response to glucose stimulus [GO:0071333]; cellular response to nutrient levels [GO:0031669]; cellular response to oxidative stress [GO:0034599]; cellular response to prostaglandin E stimulus [GO:0071380]; cholesterol biosynthetic process [GO:0006695]; energy homeostasis [GO:0097009]; fatty acid biosynthetic process [GO:0006633]; fatty acid homeostasis [GO:0055089]; glucose homeostasis [GO:0042593]; intracellular signal transduction [GO:0035556]; lipid biosynthetic process [GO:0008610]; macroautophagy [GO:0016236]; negative regulation of apoptotic process [GO:0043066]; negative regulation of gene expression [GO:0010629]; negative regulation of TOR signaling [GO:0032007]; negative regulation of tubulin deacetylation [GO:1904428]; positive regulation of autophagy [GO:0010508]; positive regulation of cellular protein localization [GO:1903829]; positive regulation of glycolytic process [GO:0045821]; positive regulation of macroautophagy [GO:0016239]; positive regulation of peptidyl-lysine acetylation [GO:2000758]; protein phosphorylation [GO:0006468]; regulation of circadian rhythm [GO:0042752]; regulation of fatty acid biosynthetic process [GO:0042304]; regulation of macroautophagy [GO:0016241]; regulation of microtubule cytoskeleton organization [GO:0070507]; regulation of stress granule assembly [GO:0062028]; response to muscle activity [GO:0014850]; rhythmic process [GO:0048511]; signal transduction [GO:0007165]; Wnt signaling pathway [GO:0016055]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000269|PubMed:15866171}. Note=In response to stress, recruited by p53/TP53 to specific promoters.


uniprotID: Q6PD74
geneSymbol: AAGAB
name: Alpha- and gamma-adaptin-binding protein p34
length: 315
go: ENSG00000103591;
snps: rs7173826
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear speck [GO:0016607]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6PD74-1; Sequence=Displayed; Name=2; IsoId=Q6PD74-2; Sequence=VSP_054597; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:23000146, ECO:0000269|PubMed:23064416}.


uniprotID: P03989
geneSymbol: HLA-B
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
name: HLA class I histocompatibility antigen, B-27 alpha chain (MHC class I antigen B*27)
length: 362
drug: DB04464;
snps: rs1050529 rs1131500 rs1051488 rs2308655 rs2308655
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
pdb:
1HSA;1JGD;1JGE;1K5N;1OF2;1OGT;1ROG;1ROH;1ROI;1ROJ;1ROK;1ROL;1UXS;1UXW;1W0V;1W0W;2A83;2BSR;2BSS;2BST;3B3I;3B6S;3BP4;3BP7;3CZF;3D18;3DTX;3HCV;3LV3;4G8G;4G8I;4G9D;4G9F;5DEF;5DEG;5IB1;5IB2;5IB3;5IB4;5IB5;

sequence:

opentargets:
cell surface [GO:0009986]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; ER to Golgi transport vesicle membrane [GO:0012507]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; membrane [GO:0016020]; MHC class I protein complex [GO:0042612]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; peptide antigen binding [GO:0042605]; antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent [GO:0002486]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent [GO:0002480]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; defense response [GO:0006952]; detection of bacterium [GO:0016045]; immune response [GO:0006955]; interferon-gamma-mediated signaling pathway [GO:0060333]; regulation of immune response [GO:0050776]; type I interferon signaling pathway [GO:0060337]


uniprotID: Q29718
geneSymbol: HLA-B
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
name: HLA class I histocompatibility antigen, B-82 alpha chain (MHC class I antigen B*82)
length: 362
snps: rs713031 rs713031 rs713031 rs1050529 rs1050570 rs1065386 rs1050393 rs1131215 rs1050388
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:


uniprotID: P0DKL9
geneSymbol: ARL14EPL
name: ARL14 effector protein-like
length: 152
go: ENSG00000268223;
sequence:
MNEQSEKNNSIQERHTDHSFPEKNCQIGQKQLQQIERQLKCLAFRNPGPQVADFNPETRQQKKKARMSKMNEYFSTKYKIMRKYDKSGRLICNDADLCDCLEKNCLGCFYPCPKCNSNKCGPECRCNRRWVYDAIVTESGEVISTLPFNVPD


uniprotID: P19652
geneSymbol: ORM2
reactome: R-HSA-114608;R-HSA-6798695;
pdb: 3APU;3APV;3APW;3APX;
name: Alpha-1-acid glycoprotein 2 (AGP 2) (Orosomucoid-2) (OMD 2)
length: 201
go: ENSG00000228278;
drug: DB00477;DB00497;DB01041;
snps: rs147969317 rs2636889 rs12685968 rs1126777 rs2636890
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
azurophil granule lumen [GO:0035578]; blood microparticle [GO:0072562]; collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; platelet alpha granule lumen [GO:0031093]; specific granule lumen [GO:0035580]; acute-phase response [GO:0006953]; neutrophil degranulation [GO:0043312]; platelet degranulation [GO:0002576]; positive regulation of interleukin-1 beta secretion [GO:0050718]; positive regulation of interleukin-1 secretion [GO:0050716]; positive regulation of tumor necrosis factor secretion [GO:1904469]; regulation of immune system process [GO:0002682]


uniprotID: P20039
geneSymbol: HLA-DRB1
reactome: R-HSA-202424;R-HSA-202427;R-HSA-202430;R-HSA-202433;R-HSA-2132295;R-HSA-389948;R-HSA-877300;
pdb: 6CPL;6CPN;6CQL;6CQN;
length: 266
snps: rs1059569
name:
HLA class II histocompatibility antigen, DRB1-11 beta chain (DR-5) (DR5) (DRw11) (MHC class II antigen DRB1*11)

sequence:

opentargets:
clathrin-coated endocytic vesicle membrane [GO:0030669]; endocytic vesicle membrane [GO:0030666]; 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]; late endosome membrane [GO:0031902]; 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]; interferon-gamma-mediated signaling pathway [GO:0060333]; T cell receptor signaling pathway [GO:0050852]


uniprotID: O60239
geneSymbol: SH3BP5
pdb: 4H3B;6DJL;
length: 455
go: ENSG00000131370;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:12167088}.
name:
SH3 domain-binding protein 5 (SH3BP-5) (SH3 domain-binding protein that preferentially associates with BTK)

sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrion [GO:0005739]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; protein kinase inhibitor activity [GO:0004860]; SH3 domain binding [GO:0017124]; intracellular signal transduction [GO:0035556]; negative regulation of protein tyrosine kinase activity [GO:0061099]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60239-1; Sequence=Displayed; Name=2; IsoId=O60239-2; Sequence=VSP_042854; Note=No experimental confirmation available.; 


uniprotID: P14060
geneSymbol: HSD3B1
reactome: R-HSA-193048;R-HSA-193993;R-HSA-194002;
length: 373
go: ENSG00000203857;
drug: DB01536;DB00157;DB01108;
snps: rs3088283 rs4986952 rs6201 rs6684974 rs6205 rs1047303
name:
3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1 (3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type I) (3-beta-HSD I) (Trophoblast antigen FDO161G) [Includes: 3-beta-hydroxy-Delta(5)-steroid dehydrogenase (EC 1.1.1.145) (3-beta-hydroxy-5-ene steroid dehydrogenase) (Progesterone reductase); Steroid Delta-isomerase (EC 5.3.3.1) (Delta-5-3-ketosteroid isomerase)]

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; mitochondrial inner membrane [GO:0005743]; mitochondrial intermembrane space [GO:0005758]; smooth endoplasmic reticulum membrane [GO:0030868]; 3-beta-hydroxy-delta5-steroid dehydrogenase activity [GO:0003854]; cholesterol dehydrogenase activity [GO:0102294]; oxidoreductase activity [GO:0016491]; oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor [GO:0016616]; steroid delta-isomerase activity [GO:0004769]; androgen biosynthetic process [GO:0006702]; C21-steroid hormone metabolic process [GO:0008207]; estrogen biosynthetic process [GO:0006703]; glucocorticoid biosynthetic process [GO:0006704]; hippocampus development [GO:0021766]; mineralocorticoid biosynthetic process [GO:0006705]; response to corticosterone [GO:0051412]; steroid biosynthetic process [GO:0006694]

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


uniprotID: P04222
geneSymbol: HLA-C
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-2172127;R-HSA-877300;R-HSA-909733;R-HSA-983170;
pdb: 1EFX;
name: HLA class I histocompatibility antigen, Cw-3 alpha chain (MHC class I antigen Cw*3)
length: 366
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
cell surface [GO:0009986]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; MHC class I protein complex [GO:0042612]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; peptide antigen binding [GO:0042605]; TAP binding [GO:0046977]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent [GO:0002480]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; innate immune response [GO:0045087]; interferon-gamma-mediated signaling pathway [GO:0060333]; regulation of immune response [GO:0050776]; type I interferon signaling pathway [GO:0060337]

snps:
rs1050409 rs1065382 rs28626310 rs2308557 rs17408553 rs1131122 rs1131119 rs1071649 rs41556316 rs34592426 rs41542424 rs713032 rs1050276 


uniprotID: Q13542
geneSymbol: EIF4EBP2
pdb: 2MX4;3AM7;
name: Eukaryotic translation initiation factor 4E-binding protein 2 (4E-BP2) (eIF4E-binding protein 2)
length: 120
go: ENSG00000148730;
sequence:
MSSSAGSGHQPSQSRAIPTRTVAISDAAQLPHDYCTTPGGTLFSTTPGGTRIIYDRKFLLDRRNSPMAQTPPCHLPNIPGVTSPGTLIEDSKVEVNNLNNLNNHDRKHAVGDDAQFEMDI

opentargets:
cytoplasm [GO:0005737]; postsynapse [GO:0098794]; eukaryotic initiation factor 4E binding [GO:0008190]; translation repressor activity [GO:0030371]; cAMP-mediated signaling [GO:0019933]; insulin receptor signaling pathway [GO:0008286]; memory [GO:0007613]; modulation of chemical synaptic transmission [GO:0050804]; negative regulation of translational initiation [GO:0045947]; regulation of synaptic plasticity [GO:0048167]; social behavior [GO:0035176]; TOR signaling [GO:0031929]; translation [GO:0006412]


uniprotID: Q4AC99
geneSymbol: ACCSL
length: 568
snps: rs2074051
name:
Probable inactive 1-aminocyclopropane-1-carboxylate synthase-like protein 2 (ACC synthase-like protein 2)

sequence:

opentargets:
catalytic activity [GO:0003824]; pyridoxal phosphate binding [GO:0030170]; biosynthetic process [GO:0009058]


uniprotID: P28335
geneSymbol: HTR2C
reactome: R-HSA-390666;R-HSA-416476;
pdb: 6BQG;6BQH;
length: 458
snps: rs6318
name:
5-hydroxytryptamine receptor 2C (5-HT-2C) (5-HT2C) (5-HTR2C) (5-hydroxytryptamine receptor 1C) (5-HT-1C) (5-HT1C) (Serotonin receptor 2C)

sequence:

opentargets:
dendrite [GO:0030425]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding [GO:0071886]; drug binding [GO:0008144]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled serotonin receptor activity [GO:0004993]; Gq/11-coupled serotonin receptor activity [GO:0001587]; neurotransmitter receptor activity [GO:0030594]; serotonin binding [GO:0051378]; behavioral fear response [GO:0001662]; cellular calcium ion homeostasis [GO:0006874]; cGMP-mediated signaling [GO:0019934]; chemical synaptic transmission [GO:0007268]; feeding behavior [GO:0007631]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; locomotory behavior [GO:0007626]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; phospholipase C-activating serotonin receptor signaling pathway [GO:0007208]; positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway [GO:0051482]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of fat cell differentiation [GO:0045600]; positive regulation of phosphatidylinositol biosynthetic process [GO:0010513]; regulation of appetite [GO:0032098]; regulation of corticotropin-releasing hormone secretion [GO:0043397]; regulation of neurological system process [GO:0031644]; release of sequestered calcium ion into cytosol [GO:0051209]; response to drug [GO:0042493]; serotonin receptor signaling pathway [GO:0007210]

drug:
DB06594;DB00321;DB00543;DB00714;DB01238;DB06216;DB01200;DB00248;DB09014;DB00477;DB01239;DB01242;DB00363;DB00434;DB04884;DB06512;DB01151;DB01191;DB01142;DB05492;DB01049;DB00696;DB06678;DB00574;DB00458;DB01221;DB00589;DB04871;DB00408;DB00934;DB01403;DB00247;DB06148;DB00805;DB00370;DB01149;DB00540;DB00334;DB01267;DB01186;DB00413;DB00420;DB00777;DB01224;DB00734;DB00268;DB06144;DB01079;DB13025;DB00193;DB00656;DB00726;DB01392;DB00246;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P28335-1; Sequence=Displayed; Name=2; IsoId=P28335-2; Sequence=VSP_045171; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12970106, ECO:0000269|PubMed:18703043, ECO:0000269|PubMed:19057895, ECO:0000269|PubMed:7895773}; Multi-pass membrane protein {ECO:0000269|PubMed:12970106, ECO:0000269|PubMed:18703043, ECO:0000269|PubMed:19057895, ECO:0000269|PubMed:7895773}.


uniprotID: P30464
geneSymbol: HLA-B
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
pdb: 1XR8;1XR9;3C9N;5TXS;5VZ5;
name: HLA class I histocompatibility antigen, B-15 alpha chain (MHC class I antigen B*15)
length: 362
snps: rs713031 rs1071816 rs1071816 rs796332753 rs41556312 rs1071652 rs1050379 rs697742 rs41545517
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:


uniprotID: P26439
geneSymbol: HSD3B2
reactome: R-HSA-193048;R-HSA-193993;R-HSA-194002;
length: 372
go: ENSG00000203859;
drug: DB01285;DB00603;DB00157;DB01108;
name:
3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 (3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II) (3-beta-HSD II) (3-beta-HSD adrenal and gonadal type) [Includes: 3-beta-hydroxy-Delta(5)-steroid dehydrogenase (EC 1.1.1.145) (3-beta-hydroxy-5-ene steroid dehydrogenase) (Progesterone reductase); Steroid Delta-isomerase (EC 5.3.3.1) (Delta-5-3-ketosteroid isomerase)]

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; mitochondrial inner membrane [GO:0005743]; mitochondrial intermembrane space [GO:0005758]; mitochondrial membrane [GO:0031966]; smooth endoplasmic reticulum membrane [GO:0030868]; 3-beta-hydroxy-delta5-steroid dehydrogenase activity [GO:0003854]; cholesterol dehydrogenase activity [GO:0102294]; oxidoreductase activity [GO:0016491]; oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor [GO:0016616]; steroid delta-isomerase activity [GO:0004769]; androgen biosynthetic process [GO:0006702]; C21-steroid hormone metabolic process [GO:0008207]; glucocorticoid biosynthetic process [GO:0006704]; hippocampus development [GO:0021766]; mineralocorticoid biosynthetic process [GO:0006705]; response to corticosterone [GO:0051412]; steroid biosynthetic process [GO:0006694]

snps:
rs28934880 rs4986954 rs757033996 rs6211 rs1388517943 rs587628683 rs80358219 rs779418168 rs35486059 rs762479018 rs759422374 rs765547422 rs80358220 rs35887327 rs1399005702 rs1411029929 rs80358221 rs121964897 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P26439-1; Sequence=Displayed; Name=2; IsoId=P26439-2; Sequence=VSP_037399, VSP_037400; 

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


uniprotID: A0PJZ0
geneSymbol: ANKRD20A5P
length: 165
name:
Putative ankyrin repeat domain-containing protein 20A5 (Ankyrin repeat domain-containing protein 20A5 pseudogene)

sequence:
MKLFGFRSRRGQTVLGSIDHLYTGSGYRIRYSELQKIHKAAVKGDAAEMERCLARRSGDLDALDKQHRTALHLACASGHVKVVTLLVNRKCQIDIYDKENRTPLIQAVHCQEEACAVILLEHGANPNLKDIYGNTALHYAVYSESTSLAEKLLFHGENIEALDKV


uniprotID: P45844
geneSymbol: ABCG1
reactome: R-HSA-1369062;R-HSA-8964058;
length: 678
go: ENSG00000160179;
drug: DB00171;
name:
ATP-binding cassette sub-family G member 1 (ATP-binding cassette transporter 8) (White protein homolog)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; endosome [GO:0005768]; external side of plasma membrane [GO:0009897]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; recycling endosome [GO:0055037]; ADP binding [GO:0043531]; ATP binding [GO:0005524]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; cholesterol binding [GO:0015485]; cholesterol transporter activity [GO:0017127]; glycoprotein transporter activity [GO:0034437]; phospholipid binding [GO:0005543]; phospholipid transporter activity [GO:0005548]; protein dimerization activity [GO:0046983]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; sterol-transporting ATPase activity [GO:0034041]; toxin transmembrane transporter activity [GO:0019534]; amyloid precursor protein catabolic process [GO:0042987]; cellular response to high density lipoprotein particle stimulus [GO:0071403]; cholesterol efflux [GO:0033344]; cholesterol homeostasis [GO:0042632]; cholesterol metabolic process [GO:0008203]; cholesterol transport [GO:0030301]; detection of hormone stimulus [GO:0009720]; glycoprotein transport [GO:0034436]; high-density lipoprotein particle remodeling [GO:0034375]; intracellular cholesterol transport [GO:0032367]; low-density lipoprotein particle remodeling [GO:0034374]; negative regulation of cholesterol storage [GO:0010887]; negative regulation of macrophage derived foam cell differentiation [GO:0010745]; phospholipid efflux [GO:0033700]; phospholipid homeostasis [GO:0055091]; positive regulation of cholesterol biosynthetic process [GO:0045542]; positive regulation of cholesterol efflux [GO:0010875]; regulation of cholesterol esterification [GO:0010872]; regulation of transcription, DNA-templated [GO:0006355]; response to lipid [GO:0033993]; response to organic substance [GO:0010033]; reverse cholesterol transport [GO:0043691]; transmembrane transport [GO:0055085]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=P45844-1; Sequence=Displayed; Name=2; Synonyms=J; IsoId=P45844-2; Sequence=VSP_000047, VSP_000051; Name=3; Synonyms=ABDE; IsoId=P45844-3; Sequence=VSP_000048, VSP_000051; Name=4; Synonyms=G; IsoId=P45844-4; Sequence=VSP_000051; Name=5; Synonyms=F; IsoId=P45844-5; Sequence=VSP_000049, VSP_000051; Name=6; Synonyms=HI; IsoId=P45844-6; Sequence=VSP_000046, VSP_000051; Name=7; Synonyms=C; IsoId=P45844-7; Sequence=VSP_000050, VSP_000051; Name=8; IsoId=P45844-8; Sequence=VSP_010718; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:22042635}; Multi-pass membrane protein {ECO:0000269|PubMed:22042635}. Golgi apparatus membrane {ECO:0000269|PubMed:22042635}; Multi-pass membrane protein {ECO:0000269|PubMed:22042635}. Note=Predominantly localized in the intracellular compartments mainly associated with the endoplasmic reticulum (ER) and Golgi membranes.


uniprotID: Q96IX9
geneSymbol: ANKRD36BP1
length: 119
name:
Putative ankyrin repeat domain-containing protein 26-like 1 (Ankyrin repeat domain-containing protein 36B pseudogene 1)

sequence:
MGTRTLQFEISDSHEKEEDLLHKNHLMQDEIARLRLEIHTIKNQILEKKYLKDIEIIKRKHEDLQKALKQNGEKSTKTIAHYSGQLTALTDENTMLRSKLEKEKQSRQRLTKWNHTIVD


uniprotID: Q9Y478
geneSymbol: PRKAB1
reactome: R-HSA-1445148;R-HSA-1632852;R-HSA-2151209;R-HSA-380972;R-HSA-5628897;R-HSA-6804756;
pdb: 4CFE;4CFF;4ZHX;5EZV;5ISO;6B1U;
name: 5'-AMP-activated protein kinase subunit beta-1 (AMPK subunit beta-1) (AMPKb)
length: 270
go: ENSG00000111725;
drug: DB00945;DB00131;DB00331;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleotide-activated protein kinase complex [GO:0031588]; nucleus [GO:0005634]; AMP-activated protein kinase activity [GO:0004679]; protein kinase activity [GO:0004672]; protein kinase binding [GO:0019901]; cell cycle arrest [GO:0007050]; fatty acid biosynthetic process [GO:0006633]; macroautophagy [GO:0016236]; nail development [GO:0035878]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of gene expression [GO:0010628]; protein heterooligomerization [GO:0051291]; protein phosphorylation [GO:0006468]; regulation of catalytic activity [GO:0050790]; signal transduction [GO:0007165]


uniprotID: Q8WU67
geneSymbol: ABHD3
reactome: R-HSA-1483191;
name: Phospholipase ABHD3 (EC 3.1.1.32) (EC 3.1.1.4) (Abhydrolase domain-containing protein 3)
length: 409
go: ENSG00000158201;
snps: rs17851878
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; 1-acyl-2-lysophosphatidylserine acylhydrolase activity [GO:0052740]; acylglycerol lipase activity [GO:0047372]; lipase activity [GO:0016298]; phosphatidylserine 1-acylhydrolase activity [GO:0052739]; phospholipase A1 activity [GO:0008970]; phospholipase A2 activity [GO:0004623]; phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine) [GO:0102567]; phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine) [GO:0102568]; short-chain carboxylesterase activity [GO:0034338]; cellular lipid metabolic process [GO:0044255]; medium-chain fatty acid biosynthetic process [GO:0051792]; medium-chain fatty acid catabolic process [GO:0051793]; phosphatidylcholine biosynthetic process [GO:0006656]; phosphatidylcholine metabolic process [GO:0046470]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WU67-1; Sequence=Displayed; Name=2; IsoId=Q8WU67-2; Sequence=VSP_056137, VSP_056138; Note=No experimental confirmation available.; 


uniprotID: P63151
geneSymbol: PPP2R2A
reactome: R-HSA-2995383;R-HSA-69231;R-HSA-69273;R-HSA-975957;
pdb: 3DW8;
length: 447
go: ENSG00000221914;
name:
Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform (PP2A subunit B isoform B55-alpha) (PP2A subunit B isoform PR55-alpha) (PP2A subunit B isoform R2-alpha) (PP2A subunit B isoform alpha)

sequence:

opentargets:
cytosol [GO:0005829]; glutamatergic synapse [GO:0098978]; nucleoplasm [GO:0005654]; protein phosphatase type 2A complex [GO:0000159]; protein phosphatase 2A binding [GO:0051721]; protein phosphatase regulator activity [GO:0019888]; protein serine/threonine phosphatase activity [GO:0004722]; protein-containing complex binding [GO:0044877]; tau protein binding [GO:0048156]; G2/M transition of mitotic cell cycle [GO:0000086]; mitotic cell cycle [GO:0000278]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; peptidyl-serine dephosphorylation [GO:0070262]; protein dephosphorylation [GO:0006470]; response to morphine [GO:0043278]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P63151-1; Sequence=Displayed; Name=2; IsoId=P63151-2; Sequence=VSP_043100; Note=No experimental confirmation available.; 


uniprotID: P00519
geneSymbol: ABL1
length: 1130
go: ENSG00000097007;
drug: DB08043;DB00171;DB06616;DB01254;DB00619;DB08231;DB03878;DB04868;DB08901;DB12323;DB08896;DB05184;
snps: rs1064152 rs1060499547 rs34549764 rs1060499548 rs34634745 rs2229071 rs35266696 rs1064165 rs2229067
reactome:
R-HSA-2029482;R-HSA-375170;R-HSA-428890;R-HSA-5663213;R-HSA-5685938;R-HSA-5693565;R-HSA-69231;R-HSA-8939236;R-HSA-8940973;R-HSA-983231;

pdb:
1AB2;1ABL;1AWO;1BBZ;1JU5;1OPL;1ZZP;2ABL;2E2B;2F4J;2FO0;2G1T;2G2F;2G2H;2G2I;2GQG;2HIW;2HYY;2HZ0;2HZ4;2HZI;2O88;2V7A;3CS9;3EG0;3EG1;3EG2;3EG3;3EGU;3K2M;3PYY;3QRI;3QRJ;3QRK;3T04;3UE4;3UYO;4J9B;4J9C;4J9D;4J9E;4J9F;4J9G;4J9H;4J9I;4JJB;4JJC;4JJD;4TWP;4WA9;4XEY;4YC8;4ZOG;5DC0;5DC4;5DC9;5HU9;5MO4;5NP2;5OAZ;6AMV;6AMW;6BL8;

name:
Tyrosine-protein kinase ABL1 (EC 2.7.10.2) (Abelson murine leukemia viral oncogene homolog 1) (Abelson tyrosine-protein kinase 1) (Proto-oncogene c-Abl) (p150)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cell leading edge [GO:0031252]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; mitochondrion [GO:0005739]; neuronal cell body [GO:0043025]; nuclear body [GO:0016604]; nuclear membrane [GO:0031965]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; postsynapse [GO:0098794]; protein-containing complex [GO:0032991]; actin filament binding [GO:0051015]; actin monomer binding [GO:0003785]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; ephrin receptor binding [GO:0046875]; kinase activity [GO:0016301]; magnesium ion binding [GO:0000287]; manganese ion binding [GO:0030145]; mitogen-activated protein kinase binding [GO:0051019]; neuropilin binding [GO:0038191]; nicotinate-nucleotide adenylyltransferase activity [GO:0004515]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; phosphotyrosine residue binding [GO:0001784]; proline-rich region binding [GO:0070064]; protein C-terminus binding [GO:0008022]; protein kinase activity [GO:0004672]; protein kinase C binding [GO:0005080]; protein tyrosine kinase activity [GO:0004713]; SH2 domain binding [GO:0042169]; SH3 domain binding [GO:0017124]; syntaxin binding [GO:0019905]; actin cytoskeleton organization [GO:0030036]; actin filament branching [GO:0090135]; activated T cell proliferation [GO:0050798]; activation of protein kinase C activity [GO:1990051]; alpha-beta T cell differentiation [GO:0046632]; autophagy [GO:0006914]; B cell proliferation involved in immune response [GO:0002322]; B cell receptor signaling pathway [GO:0050853]; B-1 B cell homeostasis [GO:0001922]; Bergmann glial cell differentiation [GO:0060020]; cardiovascular system development [GO:0072358]; cell cycle arrest [GO:0007050]; cell differentiation [GO:0030154]; cellular protein modification process [GO:0006464]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to dopamine [GO:1903351]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to oxidative stress [GO:0034599]; cerebellum morphogenesis [GO:0021587]; collateral sprouting [GO:0048668]; DNA damage induced protein phosphorylation [GO:0006975]; endothelial cell migration [GO:0043542]; epidermal growth factor receptor signaling pathway [GO:0007173]; establishment of protein localization [GO:0045184]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; integrin-mediated signaling pathway [GO:0007229]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; microspike assembly [GO:0030035]; mismatch repair [GO:0006298]; mitochondrial depolarization [GO:0051882]; mitotic cell cycle [GO:0000278]; negative regulation of BMP signaling pathway [GO:0030514]; negative regulation of cell-cell adhesion [GO:0022408]; negative regulation of cellular senescence [GO:2000773]; negative regulation of endothelial cell apoptotic process [GO:2000352]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043124]; negative regulation of long-term synaptic potentiation [GO:1900272]; negative regulation of mitotic cell cycle [GO:0045930]; negative regulation of phospholipase C activity [GO:1900275]; negative regulation of protein serine/threonine kinase activity [GO:0071901]; negative regulation of ubiquitin-protein transferase activity [GO:0051444]; neural tube closure [GO:0001843]; neuroepithelial cell differentiation [GO:0060563]; neuromuscular process controlling balance [GO:0050885]; neuropilin signaling pathway [GO:0038189]; peptidyl-tyrosine autophosphorylation [GO:0038083]; peptidyl-tyrosine phosphorylation [GO:0018108]; platelet-derived growth factor receptor-beta signaling pathway [GO:0035791]; positive regulation blood vessel branching [GO:1905555]; positive regulation of actin cytoskeleton reorganization [GO:2000251]; positive regulation of actin filament binding [GO:1904531]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cell migration involved in sprouting angiogenesis [GO:0090050]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of endothelial cell migration [GO:0010595]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of focal adhesion assembly [GO:0051894]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of interferon-gamma secretion [GO:1902715]; positive regulation of interleukin-2 secretion [GO:1900042]; positive regulation of microtubule binding [GO:1904528]; positive regulation of mitotic cell cycle [GO:0045931]; positive regulation of muscle cell differentiation [GO:0051149]; positive regulation of neuron death [GO:1901216]; positive regulation of osteoblast proliferation [GO:0033690]; positive regulation of oxidoreductase activity [GO:0051353]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of release of sequestered calcium ion into cytosol [GO:0051281]; positive regulation of stress fiber assembly [GO:0051496]; positive regulation of substrate adhesion-dependent cell spreading [GO:1900026]; positive regulation of Wnt signaling pathway, planar cell polarity pathway [GO:2000096]; post-embryonic development [GO:0009791]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of actin cytoskeleton reorganization [GO:2000249]; regulation of autophagy [GO:0010506]; regulation of axon extension [GO:0030516]; regulation of Cdc42 protein signal transduction [GO:0032489]; regulation of cell adhesion [GO:0030155]; regulation of cell motility [GO:2000145]; regulation of cell proliferation [GO:0042127]; regulation of endocytosis [GO:0030100]; regulation of extracellular matrix organization [GO:1903053]; regulation of hematopoietic stem cell differentiation [GO:1902036]; regulation of microtubule polymerization [GO:0031113]; regulation of modification of synaptic structure [GO:1905244]; regulation of response to DNA damage stimulus [GO:2001020]; regulation of T cell differentiation [GO:0045580]; regulation of transcription, DNA-templated [GO:0006355]; response to oxidative stress [GO:0006979]; signal transduction in response to DNA damage [GO:0042770]; spleen development [GO:0048536]; substrate adhesion-dependent cell spreading [GO:0034446]; thymus development [GO:0048538]; transitional one stage B cell differentiation [GO:0002333]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=IA; IsoId=P00519-1; Sequence=Displayed; Name=IB; IsoId=P00519-2; Sequence=VSP_004957; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Nucleus. Mitochondrion {ECO:0000250}. Note=Shuttles between the nucleus and cytoplasm depending on environmental signals. Sequestered into the cytoplasm through interaction with 14-3-3 proteins. Localizes to mitochondria in response to oxidative stress (By similarity). {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform IB: Nucleus membrane; Lipid-anchor. Note=The myristoylated c-ABL protein is reported to be nuclear.


uniprotID: Q96AK3
geneSymbol: APOBEC3D
name: DNA dC->dU-editing enzyme APOBEC-3D (A3D) (EC 3.5.4.-)
length: 386
go: ENSG00000243811;
location: SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, P-body.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; P-body [GO:0000932]; cytidine deaminase activity [GO:0004126]; RNA binding [GO:0003723]; zinc ion binding [GO:0008270]; cytidine to uridine editing [GO:0016554]; defense response to virus [GO:0051607]; DNA cytosine deamination [GO:0070383]; DNA demethylation [GO:0080111]; innate immune response [GO:0045087]; negative regulation of single stranded viral RNA replication via double stranded DNA intermediate [GO:0045869]; negative regulation of transposition [GO:0010529]


uniprotID: Q9Y305
geneSymbol: ACOT9
reactome: R-HSA-77289;
length: 439
go: ENSG00000123130;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250}.
name:
Acyl-coenzyme A thioesterase 9, mitochondrial (Acyl-CoA thioesterase 9) (EC 3.1.2.-) (Acyl-CoA thioester hydrolase 9)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; acetyl-CoA hydrolase activity [GO:0003986]; acyl-CoA hydrolase activity [GO:0047617]; carboxylic ester hydrolase activity [GO:0052689]; acyl-CoA metabolic process [GO:0006637]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9Y305-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q9Y305-2; Sequence=VSP_036419; Note=No experimental confirmation available.; Name=3; IsoId=Q9Y305-3; Sequence=VSP_036420; Note=No experimental confirmation available.; Name=4; IsoId=Q9Y305-4; Sequence=VSP_041093; 


uniprotID: Q9BV23
geneSymbol: ABHD6
reactome: R-HSA-426048;
length: 337
go: ENSG00000163686;
name:
Monoacylglycerol lipase ABHD6 (EC 3.1.1.23) (2-arachidonoylglycerol hydrolase) (Abhydrolase domain-containing protein 6)

sequence:

opentargets:
AMPA glutamate receptor complex [GO:0032281]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; integral component of membrane [GO:0016021]; integral component of postsynaptic membrane [GO:0099055]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; acylglycerol lipase activity [GO:0047372]; phospholipase activity [GO:0004620]; acylglycerol catabolic process [GO:0046464]; long-term synaptic depression [GO:0060292]; negative regulation of cell migration [GO:0030336]; negative regulation of cold-induced thermogenesis [GO:0120163]; phospholipid catabolic process [GO:0009395]; positive regulation of lipid biosynthetic process [GO:0046889]; regulation of endocannabinoid signaling pathway [GO:2000124]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:Q8R2Y0}; Single-pass type II membrane protein {ECO:0000255}. Mitochondrion {ECO:0000250|UniProtKB:Q8R2Y0}.


uniprotID: Q96I13
geneSymbol: ABHD8
length: 439
go: ENSG00000127220;
name:
Protein ABHD8 (EC 3.-.-.-) (Alpha/beta hydrolase domain-containing protein 8) (Abhydrolase domain-containing protein 8)

sequence:

opentargets:
extracellular exosome [GO:0070062]; carboxylic ester hydrolase activity [GO:0052689]; lipid homeostasis [GO:0055088]


uniprotID: Q9H221
geneSymbol: ABCG8
reactome: R-HSA-1369062;R-HSA-5679090;R-HSA-5679096;
pdb: 5DO7;
name: ATP-binding cassette sub-family G member 8 (Sterolin-2)
length: 673
go: ENSG00000143921;
drug: DB00973;
sequence:

opentargets:
apical plasma membrane [GO:0016324]; ATP-binding cassette (ABC) transporter complex [GO:0043190]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; ATP binding [GO:0005524]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; cholesterol transporter activity [GO:0017127]; drug transmembrane transporter activity [GO:0015238]; metal ion binding [GO:0046872]; protein heterodimerization activity [GO:0046982]; cholesterol efflux [GO:0033344]; cholesterol homeostasis [GO:0042632]; excretion [GO:0007588]; intestinal cholesterol absorption [GO:0030299]; negative regulation of intestinal cholesterol absorption [GO:0045796]; negative regulation of intestinal phytosterol absorption [GO:0010949]; phospholipid transport [GO:0015914]; response to nutrient [GO:0007584]; transmembrane transport [GO:0055085]

snps:
rs11887534 rs4148211 rs766212636 rs9282574 rs137852993 rs34754243 rs35518570 rs137852990 rs4148217 rs201690654 rs769576789 rs137852988 rs137852992 rs6544718 rs145125968 rs9282573 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H221-1; Sequence=Displayed; Name=2; IsoId=Q9H221-2; Sequence=VSP_000052; Note=Minor form detected in approximately 10% of the cDNA clones.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305|PubMed:16893193}; Multi-pass membrane protein {ECO:0000269|PubMed:27144356}. Apical cell membrane {ECO:0000269|PubMed:14504269}; Multi-pass membrane protein {ECO:0000269|PubMed:27144356}.


uniprotID: P08912
geneSymbol: CHRM5
reactome: R-HSA-390648;R-HSA-416476;
name: Muscarinic acetylcholine receptor M5
length: 532
go: ENSG00000184984;
sequence:

opentargets:
cell junction [GO:0030054]; dendrite [GO:0030425]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; G protein-coupled acetylcholine receptor activity [GO:0016907]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled serotonin receptor activity [GO:0004993]; neurotransmitter receptor activity [GO:0030594]; phosphatidylinositol phospholipase C activity [GO:0004435]; adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway [GO:0007197]; cell proliferation [GO:0008283]; chemical synaptic transmission [GO:0007268]; dopamine transport [GO:0015872]; G protein-coupled acetylcholine receptor signaling pathway [GO:0007213]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; gastric acid secretion [GO:0001696]; regulation of phosphatidylinositol dephosphorylation [GO:0060304]; transmission of nerve impulse [GO:0019226]

drug:
DB08897;DB05752;DB00321;DB00543;DB01238;DB00572;DB00767;DB00835;DB01239;DB00568;DB00363;DB00785;DB00496;DB01151;DB01142;DB06702;DB00725;DB00458;DB01221;DB00408;DB00934;DB01403;DB00340;DB00622;DB00540;DB00334;DB00715;DB00454;DB00420;DB01069;DB00777;DB01224;DB00747;DB01591;DB00342;DB01036;DB00376;DB00726;DB09076;DB00246;


uniprotID: Q9BZC7
geneSymbol: ABCA2
reactome: R-HSA-1369062;
length: 2435
go: ENSG00000107331;
snps: rs908828 rs2090625
name:
ATP-binding cassette sub-family A member 2 (ATP-binding cassette transporter 2) (ATP-binding cassette 2)

sequence:

opentargets:
ATP-binding cassette (ABC) transporter complex [GO:0043190]; cytoplasmic vesicle [GO:0031410]; endosome [GO:0005768]; endosome membrane [GO:0010008]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; membrane [GO:0016020]; microtubule organizing center [GO:0005815]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; nucleotide binding [GO:0000166]; cholesterol homeostasis [GO:0042632]; lipid metabolic process [GO:0006629]; lipid transport [GO:0006869]; regulation of intracellular cholesterol transport [GO:0032383]; regulation of transcription by RNA polymerase II [GO:0006357]; response to cholesterol [GO:0070723]; response to drug [GO:0042493]; response to steroid hormone [GO:0048545]; transmembrane transport [GO:0055085]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BZC7-1; Sequence=Displayed; Name=2; IsoId=Q9BZC7-2; Sequence=VSP_035283, VSP_035284; Note=No experimental confirmation available.; Name=3; IsoId=Q9BZC7-3; Sequence=VSP_040937; 

location:
SUBCELLULAR LOCATION: Endosome membrane {ECO:0000269|PubMed:11309290}; Multi-pass membrane protein {ECO:0000269|PubMed:11309290}. Lysosome membrane {ECO:0000269|PubMed:11309290}; Multi-pass membrane protein {ECO:0000269|PubMed:11309290}. Note=Forms discrete, punctate intracellular vesicles. {ECO:0000269|PubMed:11309290}.


uniprotID: Q4G176
geneSymbol: ACSF3
reactome: R-HSA-75876;
name: Acyl-CoA synthetase family member 3, mitochondrial (EC 6.2.1.-)
length: 576
go: ENSG00000176715;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:21841779}.
sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; acid-thiol ligase activity [GO:0016878]; ATP binding [GO:0005524]; malonyl-CoA synthetase activity [GO:0090409]; very long-chain fatty acid-CoA ligase activity [GO:0031957]; fatty acid biosynthetic process [GO:0006633]; fatty acid metabolic process [GO:0006631]; long-chain fatty-acyl-CoA biosynthetic process [GO:0035338]; malonate catabolic process [GO:0090410]

snps:
rs7188200 rs11547019 rs387907121 rs140986055 rs387907120 rs150487794 rs3743979 rs387907119 rs138680796 rs141090143 


uniprotID: P30488
geneSymbol: HLA-B
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
length: 362
snps: rs1050462 rs1131165
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
HLA class I histocompatibility antigen, B-50 alpha chain (Bw-50) (HLA class I histocompatibility antigen, B-21 alpha chain) (MHC class I antigen B*50)

sequence:


uniprotID: P35609
geneSymbol: ACTN2
reactome: R-HSA-114608;R-HSA-373753;R-HSA-390522;R-HSA-438066;R-HSA-442729;R-HSA-442982;R-HSA-5673001;
pdb: 1H8B;1HCI;1QUU;4D1E;5A36;5A37;5A38;5A4B;
name: Alpha-actinin-2 (Alpha-actinin skeletal muscle isoform 2) (F-actin cross-linking protein)
length: 894
go: ENSG00000077522;
snps: rs121434525 rs727502886 rs786205144 rs200248944 rs200631005 rs35997569 rs786204951
sequence:

opentargets:
actin filament [GO:0005884]; cortical actin cytoskeleton [GO:0030864]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; filopodium [GO:0030175]; focal adhesion [GO:0005925]; glutamatergic synapse [GO:0098978]; platelet alpha granule lumen [GO:0031093]; postsynaptic density membrane [GO:0098839]; postsynaptic density, intracellular component [GO:0099092]; pseudopodium [GO:0031143]; Z disc [GO:0030018]; actin filament binding [GO:0051015]; calcium ion binding [GO:0005509]; cytoskeletal protein binding [GO:0008092]; FATZ binding [GO:0051373]; identical protein binding [GO:0042802]; integrin binding [GO:0005178]; ion channel binding [GO:0044325]; LIM domain binding [GO:0030274]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; protein dimerization activity [GO:0046983]; protein domain specific binding [GO:0019904]; protein homodimerization activity [GO:0042803]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; structural constituent of muscle [GO:0008307]; thyroid hormone receptor coactivator activity [GO:0030375]; titin binding [GO:0031432]; titin Z domain binding [GO:0070080]; actin filament uncapping [GO:0051695]; cardiac muscle cell development [GO:0055013]; cell adhesion [GO:0007155]; focal adhesion assembly [GO:0048041]; MAPK cascade [GO:0000165]; microspike assembly [GO:0030035]; muscle filament sliding [GO:0030049]; negative regulation of potassium ion transmembrane transporter activity [GO:1901017]; negative regulation of potassium ion transport [GO:0043267]; negative regulation of protein localization to cell surface [GO:2000009]; phospholipase C-activating angiotensin-activated signaling pathway [GO:0086097]; platelet degranulation [GO:0002576]; positive regulation of cation channel activity [GO:2001259]; positive regulation of endocytic recycling [GO:2001137]; positive regulation of potassium ion transmembrane transporter activity [GO:1901018]; positive regulation of potassium ion transport [GO:0043268]; protein homotetramerization [GO:0051289]; protein localization to plasma membrane [GO:0072659]; regulation of apoptotic process [GO:0042981]; regulation of membrane potential [GO:0042391]; sarcomere organization [GO:0045214]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P35609-1; Sequence=Displayed; Name=2; IsoId=P35609-2; Sequence=VSP_054923; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed:11171996, ECO:0000269|PubMed:19932097}. Note=Colocalizes with MYOZ1 and FLNC at the Z-lines of skeletal muscle.


uniprotID: P30495
geneSymbol: HLA-B
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
name: HLA class I histocompatibility antigen, B-56 alpha chain (Bw-22) (Bw-56) (MHC class I antigen B*56)
length: 362
snps: rs1050529 rs1050570 rs1065386 rs1050393 rs1131215 rs1050388
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:


uniprotID: P11310
geneSymbol: ACADM
reactome: R-HSA-1989781;R-HSA-77288;R-HSA-77346;R-HSA-77348;
pdb: 1EGC;1EGD;1EGE;1T9G;2A1T;4P13;
name: Medium-chain specific acyl-CoA dehydrogenase, mitochondrial (MCAD) (EC 1.3.8.7)
length: 421
go: ENSG00000117054;
drug: DB03415;DB03147;DB02910;
location: SUBCELLULAR LOCATION: Mitochondrion matrix.
sequence:

opentargets:
axon [GO:0030424]; mitochondrial matrix [GO:0005759]; mitochondrial membrane [GO:0031966]; mitochondrion [GO:0005739]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; acyl-CoA dehydrogenase activity [GO:0003995]; flavin adenine dinucleotide binding [GO:0050660]; identical protein binding [GO:0042802]; medium-chain-acyl-CoA dehydrogenase activity [GO:0070991]; carnitine biosynthetic process [GO:0045329]; carnitine metabolic process, CoA-linked [GO:0019254]; fatty acid beta-oxidation [GO:0006635]; fatty acid beta-oxidation using acyl-CoA dehydrogenase [GO:0033539]; medium-chain fatty acid catabolic process [GO:0051793]; medium-chain fatty acid metabolic process [GO:0051791]; oxidation-reduction process [GO:0055114]; regulation of lipid metabolic process [GO:0019216]

snps:
rs398123072 rs121434280 rs398123074 rs875989859 rs121434283 rs875989854 rs121434277 rs121434279 rs121434278 rs121434276 rs121434281 rs121434274 rs121434282 rs747268471 rs786204631 rs77931234 rs121434275 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P11310-1; Sequence=Displayed; Name=2; IsoId=P11310-2; Sequence=VSP_038420; 


uniprotID: P08913
geneSymbol: ADRA2A
reactome: R-HSA-390696;R-HSA-392023;R-HSA-400042;R-HSA-418594;R-HSA-418597;R-HSA-5683826;
pdb: 1HLL;1HO9;1HOD;1HOF;
length: 450
snps: rs1800035 rs35658213
name:
Alpha-2A adrenergic receptor (Alpha-2 adrenergic receptor subtype C10) (Alpha-2A adrenoreceptor) (Alpha-2A adrenoceptor) (Alpha-2AAR)

sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; cytoplasm [GO:0005737]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; adrenergic receptor activity [GO:0004935]; alpha-1B adrenergic receptor binding [GO:0031692]; alpha-2C adrenergic receptor binding [GO:0031696]; alpha2-adrenergic receptor activity [GO:0004938]; epinephrine binding [GO:0051379]; heterotrimeric G-protein binding [GO:0032795]; norepinephrine binding [GO:0051380]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; thioesterase binding [GO:0031996]; actin cytoskeleton organization [GO:0030036]; activation of protein kinase activity [GO:0032147]; activation of protein kinase B activity [GO:0032148]; adenylate cyclase-activating adrenergic receptor signaling pathway [GO:0071880]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; adenylate cyclase-inhibiting adrenergic receptor signaling pathway [GO:0071881]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; adrenergic receptor signaling pathway [GO:0071875]; cellular response to hormone stimulus [GO:0032870]; G protein-coupled receptor signaling pathway [GO:0007186]; glucose homeostasis [GO:0042593]; intestinal absorption [GO:0050892]; negative regulation of calcium ion transmembrane transporter activity [GO:1901020]; negative regulation of calcium ion transport [GO:0051926]; negative regulation of calcium ion-dependent exocytosis [GO:0045955]; negative regulation of epinephrine secretion [GO:0032811]; negative regulation of insulin secretion [GO:0046676]; negative regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0061179]; negative regulation of lipid catabolic process [GO:0050995]; negative regulation of norepinephrine secretion [GO:0010700]; phospholipase C-activating adrenergic receptor signaling pathway [GO:0071882]; platelet activation [GO:0030168]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cytokine production [GO:0001819]; positive regulation of epidermal growth factor-activated receptor activity [GO:0045741]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of membrane protein ectodomain proteolysis [GO:0051044]; positive regulation of potassium ion transport [GO:0043268]; positive regulation of wound healing [GO:0090303]; Ras protein signal transduction [GO:0007265]; receptor transactivation [GO:0035624]; regulation of insulin secretion [GO:0050796]; regulation of smooth muscle contraction [GO:0006940]; regulation of vasoconstriction [GO:0019229]; Rho protein signal transduction [GO:0007266]

drug:
DB01472;DB00321;DB00543;DB00182;DB00714;DB00964;DB01238;DB06216;DB00865;DB00217;DB00484;DB01200;DB00248;DB01136;DB00477;DB09202;DB00575;DB00363;DB01151;DB00633;DB00320;DB00449;DB01142;DB04855;DB06262;DB01363;DB05492;DB00751;DB00668;DB01049;DB00696;DB06678;DB00800;DB06623;DB00629;DB01018;DB06707;DB00589;DB04948;DB00408;DB08815;DB00934;DB01365;DB01577;DB01403;DB00968;DB06148;DB00370;DB06711;DB01149;DB00368;DB00540;DB00334;DB00935;DB01267;DB01186;DB00925;DB00692;DB00397;DB00413;DB00457;DB01608;DB00852;DB01224;DB00734;DB00268;DB13025;DB00697;DB00797;DB00656;DB00726;DB06694;DB01392;DB00246;DB01624;

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23105096}; Multi-pass membrane protein {ECO:0000269|PubMed:23105096}.


uniprotID: Q9GZZ6
geneSymbol: CHRNA10
length: 450
go: ENSG00000129749;
drug: DB05069;DB01161;DB00898;DB00674;DB05137;DB00333;DB00184;DB01090;DB05740;DB00202;DB01116;
snps: rs2231547
name:
Neuronal acetylcholine receptor subunit alpha-10 (Nicotinic acetylcholine receptor subunit alpha-10) (NACHR alpha-10)

sequence:

opentargets:
axon [GO:0030424]; cell junction [GO:0030054]; cholinergic synapse [GO:0098981]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic specialization membrane [GO:0099060]; membrane [GO:0016020]; neuron projection [GO:0043005]; perikaryon [GO:0043204]; synapse [GO:0045202]; acetylcholine-gated cation-selective channel activity [GO:0022848]; calcium channel activity [GO:0005262]; signaling receptor binding [GO:0005102]; transmembrane signaling receptor activity [GO:0004888]; chemical synaptic transmission [GO:0007268]; detection of mechanical stimulus involved in sensory perception of sound [GO:0050910]; inner ear morphogenesis [GO:0042472]; ion transmembrane transport [GO:0034220]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; nervous system process [GO:0050877]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; regulation of cell proliferation [GO:0042127]; regulation of membrane potential [GO:0042391]; signal transduction [GO:0007165]; synaptic transmission, cholinergic [GO:0007271]

location:
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.


uniprotID: P30483
geneSymbol: HLA-B
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
name: HLA class I histocompatibility antigen, B-45 alpha chain (Bw-45) (MHC class I antigen B*45)
length: 362
snps: rs1050462 rs1131165
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:


uniprotID: P30493
geneSymbol: HLA-B
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
length: 362
snps: rs1050529 rs1050570 rs1065386 rs1050393 rs1131215 rs1050388
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
HLA class I histocompatibility antigen, B-55 alpha chain (Bw-55) (HLA class I histocompatibility antigen, B-12 alpha chain) (MHC class I antigen B*55)

sequence:


uniprotID: Q9NUJ1
geneSymbol: ABHD10
reactome: R-HSA-156588;
length: 306
go: ENSG00000144827;
snps: rs17429033
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
name:
Mycophenolic acid acyl-glucuronide esterase, mitochondrial (EC 3.1.1.93) (Alpha/beta hydrolase domain-containing protein 10) (Abhydrolase domain-containing protein 10)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; hydrolase activity, hydrolyzing O-glycosyl compounds [GO:0004553]; mycophenolic acid acyl-glucuronide esterase activity [GO:0102390]; cellular glucuronidation [GO:0052695]; glucuronoside catabolic process [GO:0019391]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NUJ1-1; Sequence=Displayed; Name=2; IsoId=Q9NUJ1-2; Sequence=VSP_056093; Note=No experimental confirmation available.; Name=3; IsoId=Q9NUJ1-3; Sequence=VSP_056742, VSP_056743; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: Q9UG63
geneSymbol: ABCF2
name: ATP-binding cassette sub-family F member 2 (Iron-inhibited ABC transporter 2)
length: 623
go: ENSG00000033050;
sequence:

opentargets:
membrane [GO:0016020]; mitochondrial envelope [GO:0005740]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; transporter activity [GO:0005215]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UG63-1; Sequence=Displayed; Name=2; IsoId=Q9UG63-2; Sequence=VSP_054715; 


uniprotID: O14639
geneSymbol: ABLIM1
reactome: R-HSA-418885;
length: 778
go: ENSG00000099204;
snps: rs11593544 rs7091419
name:
Actin-binding LIM protein 1 (abLIM-1) (Actin-binding LIM protein family member 1) (Actin-binding double zinc finger protein) (LIMAB1) (Limatin)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; lamellipodium [GO:0030027]; stress fiber [GO:0001725]; actin binding [GO:0003779]; actin filament binding [GO:0051015]; metal ion binding [GO:0046872]; animal organ morphogenesis [GO:0009887]; cilium assembly [GO:0060271]; cytoskeleton organization [GO:0007010]; lamellipodium assembly [GO:0030032]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=O14639-1; Sequence=Displayed; Name=2; IsoId=O14639-2; Sequence=VSP_012100; Name=3; IsoId=O14639-3; Sequence=VSP_012099, VSP_012102; Name=4; IsoId=O14639-4; Sequence=VSP_012099, VSP_012101, VSP_012102; Name=5; IsoId=O14639-5; Sequence=VSP_012099, VSP_041185, VSP_012102; Name=6; IsoId=O14639-6; Sequence=VSP_012100, VSP_041185, VSP_057209; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Note=Associated with the cytoskeleton. {ECO:0000250}.


uniprotID: P40394
geneSymbol: ADH7
reactome: R-HSA-71384;
pdb: 1AGN;1D1S;1D1T;
length: 386
go: ENSG00000196344;
drug: DB00898;DB00157;
snps: rs1573496
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Alcohol dehydrogenase class 4 mu/sigma chain (EC 1.1.1.1) (Alcohol dehydrogenase class IV mu/sigma chain) (Gastric alcohol dehydrogenase) (Retinol dehydrogenase)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]; alcohol dehydrogenase (NAD) activity [GO:0004022]; alcohol dehydrogenase activity, zinc-dependent [GO:0004024]; aldehyde oxidase activity [GO:0004031]; ethanol binding [GO:0035276]; receptor antagonist activity [GO:0048019]; retinol binding [GO:0019841]; retinol dehydrogenase activity [GO:0004745]; zinc ion binding [GO:0008270]; ethanol catabolic process [GO:0006068]; ethanol oxidation [GO:0006069]; fatty acid omega-oxidation [GO:0010430]; oxidation-reduction process [GO:0055114]; response to bacterium [GO:0009617]; response to ethanol [GO:0045471]; retinoic acid metabolic process [GO:0042573]; retinoid metabolic process [GO:0001523]; retinol metabolic process [GO:0042572]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P40394-1; Sequence=Displayed; Name=2; IsoId=P40394-2; Sequence=VSP_043093; Note=No experimental confirmation available.; 


uniprotID: Q99758
geneSymbol: ABCA3
reactome: R-HSA-1369062;R-HSA-5683678;R-HSA-5683826;R-HSA-5688399;
length: 1704
go: ENSG00000167972;
drug: DB00619;
snps: rs121909182 rs45447801 rs121909184 rs45592239 rs121909183 rs28936691
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
ATP-binding cassette sub-family A member 3 (ABC-C transporter) (ATP-binding cassette transporter 3) (ATP-binding cassette 3)

sequence:

opentargets:
alveolar lamellar body [GO:0097208]; alveolar lamellar body membrane [GO:0097233]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; lamellar body membrane [GO:0097232]; membrane [GO:0016020]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; lipid transporter activity [GO:0005319]; transporter activity [GO:0005215]; cellular protein metabolic process [GO:0044267]; lipid transport [GO:0006869]; response to drug [GO:0042493]; response to glucocorticoid [GO:0051384]; transmembrane transport [GO:0055085]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q99758-1; Sequence=Displayed; Name=2; IsoId=Q99758-2; Sequence=VSP_056262, VSP_056263; Note=No experimental confirmation available.; 


uniprotID: Q8N1Q8
geneSymbol: THEM5
reactome: R-HSA-77289;
pdb: 4AE7;
length: 247
go: ENSG00000196407;
snps: rs16833597 rs6587625 rs6587624
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:22586271}.
name:
Acyl-coenzyme A thioesterase THEM5 (Acyl-CoA thioesterase THEM5) (EC 3.1.2.2) (Acyl-coenzyme A thioesterase 15) (Thioesterase superfamily member 5)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; acyl-CoA hydrolase activity [GO:0047617]; myristoyl-CoA hydrolase activity [GO:0102991]; palmitoyl-CoA hydrolase activity [GO:0016290]; acyl-CoA metabolic process [GO:0006637]; cardiolipin acyl-chain remodeling [GO:0035965]; fatty acid metabolic process [GO:0006631]; long-chain fatty-acyl-CoA metabolic process [GO:0035336]


uniprotID: Q13444
geneSymbol: ADAM15
reactome: R-HSA-1474228;R-HSA-8941237;
length: 863
go: ENSG00000143537;
snps: rs6427128 rs115753757 rs2306122
name:
Disintegrin and metalloproteinase domain-containing protein 15 (ADAM 15) (EC 3.4.24.-) (Metalloprotease RGD disintegrin protein) (Metalloproteinase-like, disintegrin-like, and cysteine-rich protein 15) (MDC-15) (Metargidin)

sequence:

opentargets:
acrosomal vesicle [GO:0001669]; adherens junction [GO:0005912]; cell surface [GO:0009986]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; motile cilium [GO:0031514]; plasma membrane [GO:0005886]; integrin binding [GO:0005178]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237]; SH3 domain binding [GO:0017124]; angiogenesis [GO:0001525]; cardiac epithelial to mesenchymal transition [GO:0060317]; cell-matrix adhesion [GO:0007160]; cellular response to phorbol 13-acetate 12-myristate [GO:1904628]; collagen catabolic process [GO:0030574]; extracellular matrix disassembly [GO:0022617]; extracellular matrix organization [GO:0030198]; immune response to tumor cell [GO:0002418]; innate immune response [GO:0045087]; integrin-mediated signaling pathway [GO:0007229]; male gonad development [GO:0008584]; negative regulation of cell growth [GO:0030308]; negative regulation of cell migration [GO:0030336]; negative regulation of cell-matrix adhesion [GO:0001953]; negative regulation of receptor binding [GO:1900121]; response to hypobaric hypoxia [GO:1990910]; tissue regeneration [GO:0042246]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=13;  Name=1; Synonyms=6b; IsoId=Q13444-1; Sequence=Displayed; Name=2; IsoId=Q13444-2; Sequence=VSP_039527; Name=3; Synonyms=6a; IsoId=Q13444-3; Sequence=VSP_039529; Name=4; Synonyms=4a; IsoId=Q13444-4; Sequence=VSP_039531; Name=5; IsoId=Q13444-5; Sequence=VSP_039528; Name=6; Synonyms=7b; IsoId=Q13444-6; Sequence=VSP_039533; Name=7; Synonyms=7a; IsoId=Q13444-7; Sequence=VSP_039529, VSP_039533; Name=8; IsoId=Q13444-8; Sequence=VSP_039528, VSP_039533; Name=9; Synonyms=3a; IsoId=Q13444-9; Sequence=VSP_039526, VSP_039532; Name=10; Synonyms=1; IsoId=Q13444-10; Sequence=VSP_039525, VSP_039530; Name=11; IsoId=Q13444-11; Sequence=VSP_039524, VSP_039527; Name=12; IsoId=Q13444-12; Sequence=VSP_044695, VSP_039527; Note=No experimental confirmation available.; Name=13; IsoId=Q13444-13; Sequence=VSP_055143, VSP_055144, VSP_055145; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endomembrane system {ECO:0000269|PubMed:12243749}; Single-pass type I membrane protein {ECO:0000269|PubMed:12243749}. Cell junction, adherens junction {ECO:0000269|PubMed:12243749}. Cell projection, cilium, flagellum {ECO:0000250}. Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000250}. Note=The majority of the protein is localized in a perinuclear compartment which may correspond to the trans-Golgi network or the late endosome. The pro-protein is the major detectable form on the cell surface, whereas the majority of the protein in the cell is processed (By similarity). {ECO:0000250}.


uniprotID: Q53H12
geneSymbol: AGK
reactome: R-HSA-1483206;R-HSA-6802952;
length: 422
go: ENSG00000006530;
snps: rs10262855
name:
Acylglycerol kinase, mitochondrial (hAGK) (EC 2.7.1.107) (EC 2.7.1.94) (Multiple substrate lipid kinase) (HsMuLK) (MuLK) (Multi-substrate lipid kinase)

sequence:

opentargets:
cytosol [GO:0005829]; integral component of mitochondrial inner membrane [GO:0031305]; intracellular membrane-bounded organelle [GO:0043231]; mitochondrial inner membrane [GO:0005743]; mitochondrial intermembrane space [GO:0005758]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; TIM22 mitochondrial import inner membrane insertion complex [GO:0042721]; acylglycerol kinase activity [GO:0047620]; ATP binding [GO:0005524]; ceramide kinase activity [GO:0001729]; diacylglycerol kinase activity [GO:0004143]; NAD+ kinase activity [GO:0003951]; ceramide biosynthetic process [GO:0046513]; glycerophospholipid biosynthetic process [GO:0046474]; protein import into mitochondrial inner membrane [GO:0045039]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q53H12-1; Sequence=Displayed; Name=2; IsoId=Q53H12-2; Sequence=VSP_020925, VSP_020926; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:15939762, ECO:0000269|PubMed:16269826, ECO:0000269|PubMed:28712724, ECO:0000269|PubMed:28712726}; Peripheral membrane protein {ECO:0000269|PubMed:28712724}. Mitochondrion intermembrane space {ECO:0000269|PubMed:28712724, ECO:0000269|PubMed:28712726}. Note=Localizes in the mitochondrion intermembrane space, where it associates with the inner membrane (PubMed:28712724). It is unclear whether the N-terminal hydrophobic region forms a transmembrane region or associates with the membrane without crossing it (PubMed:28712724, PubMed:28712726). {ECO:0000269|PubMed:28712724, ECO:0000269|PubMed:28712726}.


uniprotID: Q6ULP2
geneSymbol: AFTPH
name: Aftiphilin
length: 936
go: ENSG00000119844;
snps: rs35986567 rs3770740 rs3770739
sequence:

opentargets:
AP-1 adaptor complex [GO:0030121]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; nucleus [GO:0005634]; clathrin binding [GO:0030276]; intracellular transport [GO:0046907]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q6ULP2-1; Sequence=Displayed; Name=2; IsoId=Q6ULP2-6; Sequence=VSP_059492, VSP_059495; Name=3; IsoId=Q6ULP2-7; Sequence=VSP_059493, VSP_059494; Note=May be due to intron retention. No experimental confirmation available. {ECO:0000305}; Name=4; IsoId=Q6ULP2-8; Sequence=VSP_059492; Name=5; IsoId=Q6ULP2-9; Sequence=VSP_059495; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14665628}. Note=Colocalizes with AP1G1 and clathrin.


uniprotID: O00116
geneSymbol: AGPS
reactome: R-HSA-75896;R-HSA-9033241;R-HSA-9033500;
length: 658
go: ENSG00000018510;
snps: rs121434412 rs121434411 rs121434413 rs387907214
name:
Alkyldihydroxyacetonephosphate synthase, peroxisomal (Alkyl-DHAP synthase) (EC 2.5.1.26) (Aging-associated gene 5 protein) (Alkylglycerone-phosphate synthase)

sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; peroxisomal matrix [GO:0005782]; peroxisomal membrane [GO:0005778]; peroxisome [GO:0005777]; alkylglycerone-phosphate synthase activity [GO:0008609]; FAD binding [GO:0071949]; oxidoreductase activity [GO:0016491]; ether lipid biosynthetic process [GO:0008611]; lipid biosynthetic process [GO:0008610]; protein targeting to peroxisome [GO:0006625]

location:
SUBCELLULAR LOCATION: Peroxisome membrane. Note=Localized to the inner aspect of the peroxisomal membrane.


uniprotID: O43506
geneSymbol: ADAM20
reactome: R-HSA-1300644;
name: Disintegrin and metalloproteinase domain-containing protein 20 (ADAM 20) (EC 3.4.24.-)
length: 726
snps: rs1059166
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237]; binding of sperm to zona pellucida [GO:0007339]; single fertilization [GO:0007338]


uniprotID: Q13015
geneSymbol: MLLT11
name: Protein AF1q
sequence: MRDPVSSQYSSFLFWRMPIPELDLSELEGLGLSDTATYKVKDSSVGKMIGQATAADQEKNPEGDGLLEYSTFNFWRAPIASIHSFELDLL
length: 90
go: ENSG00000213190;
opentargets:
cytosol [GO:0005829]; intracellular [GO:0005622]; microtubule organizing center [GO:0005815]; nucleoplasm [GO:0005654]; extrinsic apoptotic signaling pathway [GO:0097191]; intrinsic apoptotic signaling pathway [GO:0097193]; positive regulation of apoptotic process [GO:0043065]; positive regulation of mitochondrial depolarization [GO:0051901]; positive regulation of release of cytochrome c from mitochondria [GO:0090200]; positive regulation of transcription, DNA-templated [GO:0045893]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21715312, ECO:0000269|PubMed:26079538}. Cytoplasm {ECO:0000269|PubMed:21715312, ECO:0000269|PubMed:26079538}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:21715312}. Note=Continuous nuclear export is followed by degradation. {ECO:0000269|PubMed:21715312}.


uniprotID: Q16186
geneSymbol: ADRM1
reactome: R-HSA-5689603;R-HSA-5689880;
pdb: 2KQZ;2KR0;2L5V;2MKZ;2NBV;4UEL;4UEM;4WLQ;4WLR;5IRS;5V1Y;5V1Z;6CO4;
length: 407
go: ENSG00000130706;
name:
Proteasomal ubiquitin receptor ADRM1 (110 kDa cell membrane glycoprotein) (Gp110) (Adhesion-regulating molecule 1) (ARM-1) (Proteasome regulatory particle non-ATPase 13) (hRpn13) (Rpn13 homolog)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; proteasome complex [GO:0000502]; proteasome regulatory particle, lid subcomplex [GO:0008541]; endopeptidase activator activity [GO:0061133]; protease binding [GO:0002020]; proteasome binding [GO:0070628]; ubiquitin binding [GO:0043130]; proteasome assembly [GO:0043248]; protein deubiquitination [GO:0016579]; transcription elongation from RNA polymerase II promoter [GO:0006368]; ubiquitin-dependent protein catabolic process [GO:0006511]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16990800}. Nucleus {ECO:0000269|PubMed:16990800}.


uniprotID: Q5VUY2
geneSymbol: AADACL4
name: Arylacetamide deacetylase-like 4 (EC 3.1.1.-)
length: 407
go: ENSG00000204518;
opentargets: integral component of membrane [GO:0016021]; carboxylic ester hydrolase activity [GO:0052689]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
sequence:


uniprotID: Q15847
geneSymbol: ADIRF
reactome: R-HSA-381340;
sequence: MASKGLQDLKQQVEGTAQEAVSAAGAAAQQVVDQATEAGQKAMDQLAKTTQETIDKTANQASDTFSGIGKKFGLLK
length: 76
go: ENSG00000148671;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23239344}.
name:
Adipogenesis regulatory factor (Adipogenesis factor rich in obesity) (Adipose most abundant gene transcript 2 protein) (Adipose-specific protein 2) (apM-2)

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cell differentiation [GO:0030154]; cellular response to cisplatin [GO:0072719]; cellular response to radiation [GO:0071478]; positive regulation of fat cell differentiation [GO:0045600]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of response to drug [GO:2001023]


uniprotID: P07327
geneSymbol: ADH1A
reactome: R-HSA-2161541;R-HSA-5365859;R-HSA-71384;
pdb: 1HSO;1U3T;
name: Alcohol dehydrogenase 1A (EC 1.1.1.1) (Alcohol dehydrogenase subunit alpha)
length: 375
go: ENSG00000187758;
drug: DB02721;DB00898;DB01213;DB04065;DB00157;
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; alcohol dehydrogenase (NAD) activity [GO:0004022]; alcohol dehydrogenase activity, zinc-dependent [GO:0004024]; retinol dehydrogenase activity [GO:0004745]; zinc ion binding [GO:0008270]; alcohol metabolic process [GO:0006066]; drug metabolic process [GO:0017144]; ethanol oxidation [GO:0006069]


uniprotID: Q9H013
geneSymbol: ADAM19
reactome: R-HSA-8941237;
length: 955
go: ENSG00000135074;
snps: rs11465228 rs200894535
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Disintegrin and metalloproteinase domain-containing protein 19 (ADAM 19) (EC 3.4.24.-) (Meltrin-beta) (Metalloprotease and disintegrin dendritic antigen marker) (MADDAM)

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; SH3 domain binding [GO:0017124]; extracellular matrix organization [GO:0030198]; membrane protein ectodomain proteolysis [GO:0006509]; placenta development [GO:0001890]; positive regulation of cell-cell adhesion mediated by cadherin [GO:2000049]; positive regulation of gene expression [GO:0010628]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=A; IsoId=Q9H013-1; Sequence=Displayed; Name=B; IsoId=Q9H013-2; Sequence=VSP_005481; 


uniprotID: Q8IZF3
geneSymbol: ADGRF4
length: 695
go: ENSG00000153294;
snps: rs12110938 rs9369738 rs572583506
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}.
name:
Adhesion G protein-coupled receptor F4 (G-protein coupled receptor 115) (G-protein coupled receptor PGR18)

sequence:

opentargets:
integral component of membrane [GO:0016021]; G protein-coupled receptor activity [GO:0004930]; cell surface receptor signaling pathway [GO:0007166]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: P51828
geneSymbol: ADCY7
length: 1080
go: ENSG00000121281;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
reactome:
R-HSA-163359;R-HSA-163615;R-HSA-164378;R-HSA-170660;R-HSA-170670;R-HSA-418555;R-HSA-418594;R-HSA-418597;R-HSA-432040;R-HSA-5610787;

name:
Adenylate cyclase type 7 (EC 4.6.1.1) (ATP pyrophosphate-lyase 7) (Adenylate cyclase type VII) (Adenylyl cyclase 7)

sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; adenylate cyclase activity [GO:0004016]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; cAMP biosynthetic process [GO:0006171]; cellular response to ethanol [GO:0071361]; cellular response to glucagon stimulus [GO:0071377]; cellular response to lithium ion [GO:0071285]; G protein-coupled receptor signaling pathway [GO:0007186]; maternal process involved in female pregnancy [GO:0060135]; negative regulation of cytokine production involved in inflammatory response [GO:1900016]; regulation of adaptive immune response [GO:0002819]; renal water homeostasis [GO:0003091]


uniprotID: Q8N302
geneSymbol: AGGF1
reactome: R-HSA-6802952;
length: 714
go: ENSG00000164252;
snps: rs34203073 rs9715897 rs17856835 rs34400049
name:
Angiogenic factor with G patch and FHA domains 1 (Angiogenic factor VG5Q) (hVG5Q) (G patch domain-containing protein 7) (Vasculogenesis gene on 5q protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; perinuclear region of cytoplasm [GO:0048471]; nucleic acid binding [GO:0003676]; angiogenesis [GO:0001525]; cell adhesion [GO:0007155]; positive regulation of angiogenesis [GO:0045766]; positive regulation of endothelial cell proliferation [GO:0001938]; vasculogenesis [GO:0001570]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N302-1; Sequence=Displayed; Name=2; IsoId=Q8N302-2; Sequence=VSP_009631, VSP_009632; Note=No experimental confirmation available.; Name=3; IsoId=Q8N302-3; Sequence=VSP_009633, VSP_009634; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14961121}. Secreted {ECO:0000269|PubMed:14961121}. Note=Cytoplasmic in microvascular endothelial cells. Upon angiogenesis, when endothelial cell tube formation is initiated, it is secreted.


uniprotID: O14514
geneSymbol: ADGRB1
length: 1584
go: ENSG00000181790;
name:
Adhesion G protein-coupled receptor B1 (Brain-specific angiogenesis inhibitor 1) [Cleaved into: Vasculostatin-40 (Vstat40); Vasculostatin-120 (Vstat120)]

sequence:

opentargets:
cell-cell junction [GO:0005911]; dendrite [GO:0030425]; dendritic spine [GO:0043197]; extracellular space [GO:0005615]; focal adhesion [GO:0005925]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; perinuclear region of cytoplasm [GO:0048471]; phagocytic cup [GO:0001891]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; G protein-coupled receptor activity [GO:0004930]; lipopolysaccharide binding [GO:0001530]; PDZ domain binding [GO:0030165]; phosphatidylserine binding [GO:0001786]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; apoptotic cell clearance [GO:0043277]; axonogenesis [GO:0007409]; cell adhesion [GO:0007155]; cell surface receptor signaling pathway [GO:0007166]; defense response to Gram-negative bacterium [GO:0050829]; engulfment of apoptotic cell [GO:0043652]; G protein-coupled receptor signaling pathway [GO:0007186]; innate immune response [GO:0045087]; muscle organ development [GO:0007517]; negative regulation of angiogenesis [GO:0016525]; negative regulation of cell proliferation [GO:0008285]; negative regulation of endothelial cell migration [GO:0010596]; negative regulation of protein catabolic process [GO:0042177]; negative regulation of protein ubiquitination [GO:0031397]; peripheral nervous system development [GO:0007422]; phagocytosis, recognition [GO:0006910]; positive regulation of myoblast fusion [GO:1901741]; positive regulation of reactive oxygen species biosynthetic process [GO:1903428]; positive regulation of synapse assembly [GO:0051965]; regulation of synaptic plasticity [GO:0048167]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12074842, ECO:0000269|PubMed:26838550}; Multi-pass membrane protein {ECO:0000255}. Cell projection, phagocytic cup {ECO:0000250|UniProtKB:Q3UHD1}. Cell junction, focal adhesion {ECO:0000250|UniProtKB:Q3UHD1}. Cell projection, dendritic spine {ECO:0000250|UniProtKB:C0HL12}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250|UniProtKB:Q3UHD1}.; SUBCELLULAR LOCATION: Vasculostatin-120: Secreted {ECO:0000269|PubMed:15782143, ECO:0000269|PubMed:22330140}.; SUBCELLULAR LOCATION: Vasculostatin-40: Secreted {ECO:0000269|PubMed:22330140}.


uniprotID: Q8WYK0
geneSymbol: ACOT12
reactome: R-HSA-77289;
pdb: 3B7K;4MOB;4MOC;
length: 555
go: ENSG00000172497;
snps: rs34607174 rs10371
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16951743}.
name:
Acyl-coenzyme A thioesterase 12 (Acyl-CoA thioesterase 12) (EC 3.1.2.1) (Acyl-CoA thioester hydrolase 12) (Cytoplasmic acetyl-CoA hydrolase 1) (CACH-1) (hCACH-1) (START domain-containing protein 15) (StARD15)

sequence:

opentargets:
cytosol [GO:0005829]; acetyl-CoA hydrolase activity [GO:0003986]; acyl-CoA hydrolase activity [GO:0047617]; ATP binding [GO:0005524]; carboxylic ester hydrolase activity [GO:0052689]; fatty-acyl-CoA binding [GO:0000062]; lipid binding [GO:0008289]; long-chain fatty acyl-CoA binding [GO:0036042]; palmitoyl-CoA hydrolase activity [GO:0016290]; acetyl-CoA metabolic process [GO:0006084]; acyl-CoA metabolic process [GO:0006637]; palmitic acid biosynthetic process [GO:1900535]; pyruvate metabolic process [GO:0006090]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WYK0-1; Sequence=Displayed; Name=2; IsoId=Q8WYK0-2; Sequence=VSP_055785, VSP_055786; Note=No experimental confirmation available.; 


uniprotID: Q8N157
geneSymbol: AHI1
reactome: R-HSA-5620912;
pdb: 4ESR;
name: Jouberin (Abelson helper integration site 1 protein homolog) (AHI-1)
length: 1196
go: ENSG00000135541;
sequence:

opentargets:
adherens junction [GO:0005912]; cell-cell junction [GO:0005911]; centriole [GO:0005814]; centrosome [GO:0005813]; ciliary basal body [GO:0036064]; cilium [GO:0005929]; cytosol [GO:0005829]; MKS complex [GO:0036038]; non-motile cilium [GO:0097730]; identical protein binding [GO:0042802]; cellular protein localization [GO:0034613]; central nervous system development [GO:0007417]; ciliary basal body-plasma membrane docking [GO:0097711]; cilium assembly [GO:0060271]; cloaca development [GO:0035844]; heart looping [GO:0001947]; hindbrain development [GO:0030902]; Kupffer's vesicle development [GO:0070121]; left/right axis specification [GO:0070986]; morphogenesis of a polarized epithelium [GO:0001738]; negative regulation of apoptotic process [GO:0043066]; otic vesicle development [GO:0071599]; photoreceptor cell outer segment organization [GO:0035845]; positive regulation of polarized epithelial cell differentiation [GO:0030862]; positive regulation of receptor internalization [GO:0002092]; positive regulation of transcription by RNA polymerase II [GO:0045944]; pronephric duct morphogenesis [GO:0039023]; pronephric nephron tubule morphogenesis [GO:0039008]; regulation of behavior [GO:0050795]; retina layer formation [GO:0010842]; specification of axis polarity [GO:0065001]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]; vesicle-mediated transport [GO:0016192]

snps:
rs397514726 rs121434350 rs35433555 rs267606641 rs772989270 rs863225134 rs121434351 rs794727174 rs13312995 rs199736888 rs863225135 rs41288013 rs6940875 rs148000791 rs117447608 rs201148693 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N157-1; Sequence=Displayed; Name=2; IsoId=Q8N157-2; Sequence=VSP_015355, VSP_015356; Name=3; IsoId=Q8N157-3; Sequence=VSP_015353, VSP_015354; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:21623382, ECO:0000269|PubMed:23532844}. Cell junction, adherens junction {ECO:0000269|PubMed:18633336, ECO:0000269|PubMed:23532844}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000250|UniProtKB:Q8K3E5}.


uniprotID: P08588
geneSymbol: ADRB1
reactome: R-HSA-390696;R-HSA-418555;
pdb: 2LSQ;
name: Beta-1 adrenergic receptor (Beta-1 adrenoreceptor) (Beta-1 adrenoceptor)
length: 477
snps: rs34844626 rs35720093 rs35230616 rs1801252 rs1801253 rs36052953 rs35705839
sequence:

opentargets:
early endosome [GO:0005769]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic density membrane [GO:0099061]; plasma membrane [GO:0005886]; Schaffer collateral - CA1 synapse [GO:0098685]; adrenergic receptor activity [GO:0004935]; alpha-2A adrenergic receptor binding [GO:0031694]; beta-adrenergic receptor activity [GO:0004939]; beta1-adrenergic receptor activity [GO:0004940]; epinephrine binding [GO:0051379]; G protein-coupled neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential [GO:0099579]; norepinephrine binding [GO:0051380]; PDZ domain binding [GO:0030165]; protein heterodimerization activity [GO:0046982]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; activation of adenylate cyclase activity [GO:0007190]; adenylate cyclase-activating adrenergic receptor signaling pathway [GO:0071880]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; brown fat cell differentiation [GO:0050873]; diet induced thermogenesis [GO:0002024]; fear response [GO:0042596]; G protein-coupled receptor signaling pathway [GO:0007186]; heat generation [GO:0031649]; negative regulation of multicellular organism growth [GO:0040015]; norepinephrine-epinephrine-mediated vasodilation involved in regulation of systemic arterial blood pressure [GO:0002025]; positive regulation of cAMP-mediated signaling [GO:0043950]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of GTPase activity [GO:0043547]; positive regulation of heart rate by epinephrine-norepinephrine [GO:0001996]; positive regulation of the force of heart contraction by epinephrine-norepinephrine [GO:0001997]; response to cold [GO:0009409]

drug:
DB08347;DB01193;DB00866;DB01118;DB00321;DB00182;DB01102;DB06216;DB00335;DB00195;DB00217;DB01295;DB00612;DB08807;DB06726;DB08808;DB00248;DB00521;DB01136;DB04846;DB01407;DB01151;DB00841;DB04855;DB06262;DB01363;DB00668;DB00187;DB01288;DB00221;DB01064;DB00598;DB01210;DB00408;DB01365;DB01214;DB00264;DB00370;DB01203;DB04861;DB00368;DB00540;DB00334;DB01580;DB01359;DB00397;DB00960;DB01291;DB01297;DB00571;DB00852;DB01001;DB00489;DB00373;DB00726;DB09068;

location:
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Early endosome. Note=Colocalizes with RAPGEF2 at the plasma membrane (By similarity). Localized at the plasma membrane. Found in the Golgi upon GOPC overexpression. {ECO:0000250}.


uniprotID: Q9H9G7
geneSymbol: AGO3
pdb: 5VM9;
length: 860
go: ENSG00000126070;
reactome:
R-HSA-1912408;R-HSA-203927;R-HSA-2559580;R-HSA-2559585;R-HSA-4086398;R-HSA-426486;R-HSA-426496;R-HSA-5628897;R-HSA-5687128;R-HSA-8934593;R-HSA-8936459;R-HSA-8943723;R-HSA-8948700;R-HSA-9018519;

name:
Protein argonaute-3 (Argonaute3) (hAgo3) (EC 3.1.26.n2) (Argonaute RISC catalytic component 3) (Eukaryotic translation initiation factor 2C 3) (eIF-2C 3) (eIF2C 3)

sequence:

opentargets:
condensed nuclear chromosome [GO:0000794]; cytoplasm [GO:0005737]; cytoplasmic ribonucleoprotein granule [GO:0036464]; cytosol [GO:0005829]; membrane [GO:0016020]; micro-ribonucleoprotein complex [GO:0035068]; nucleoplasm [GO:0005654]; P-body [GO:0000932]; RISC complex [GO:0016442]; RISC-loading complex [GO:0070578]; double-stranded RNA binding [GO:0003725]; endoribonuclease activity [GO:0004521]; endoribonuclease activity, cleaving miRNA-paired mRNA [GO:0090624]; metal ion binding [GO:0046872]; miRNA binding [GO:0035198]; RNA binding [GO:0003723]; single-stranded RNA binding [GO:0003727]; miRNA loading onto RISC involved in gene silencing by miRNA [GO:0035280]; miRNA mediated inhibition of translation [GO:0035278]; mRNA catabolic process [GO:0006402]; negative regulation of gene expression [GO:0010629]; positive regulation of gene expression [GO:0010628]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; posttranscriptional gene silencing by RNA [GO:0035194]; pre-miRNA processing [GO:0031054]; production of miRNAs involved in gene silencing by miRNA [GO:0035196]; regulation of megakaryocyte differentiation [GO:0045652]; regulation of stem cell proliferation [GO:0072091]; RNA secondary structure unwinding [GO:0010501]; Wnt signaling pathway, calcium modulating pathway [GO:0007223]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H9G7-1; Sequence=Displayed; Name=2; IsoId=Q9H9G7-2; Sequence=VSP_041084; 

location:
SUBCELLULAR LOCATION: Cytoplasm, P-body {ECO:0000255|HAMAP-Rule:MF_03032, ECO:0000269|PubMed:16081698}.


uniprotID: P30556
geneSymbol: AGTR1
reactome: R-HSA-375276;R-HSA-416476;R-HSA-8856825;R-HSA-8856828;
pdb: 1ZV0;4YAY;4ZUD;
name: Type-1 angiotensin II receptor (AT1AR) (AT1BR) (Angiotensin II type-1 receptor) (AT1)
length: 359
go: ENSG00000144891;
drug: DB08822;DB00796;DB05739;DB00876;DB01342;DB01029;DB00678;DB00275;DB01347;DB01349;DB00966;DB00177;
snps: rs12721226 rs17852013 rs12721225 rs104893677 rs1064533 rs1801021 rs17852012
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; angiotensin type I receptor activity [GO:0001596]; angiotensin type II receptor activity [GO:0004945]; bradykinin receptor binding [GO:0031711]; protein heterodimerization activity [GO:0046982]; angiotensin-activated signaling pathway [GO:0038166]; calcium-mediated signaling [GO:0019722]; cell chemotaxis [GO:0060326]; G protein-coupled receptor signaling pathway [GO:0007186]; kidney development [GO:0001822]; low-density lipoprotein particle remodeling [GO:0034374]; phospholipase C-activating angiotensin-activated signaling pathway [GO:0086097]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis [GO:1903589]; positive regulation of cellular protein metabolic process [GO:0032270]; positive regulation of cholesterol esterification [GO:0010873]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway [GO:0051482]; positive regulation of inflammatory response [GO:0050729]; positive regulation of macrophage derived foam cell differentiation [GO:0010744]; positive regulation of NAD(P)H oxidase activity [GO:0033864]; positive regulation of phospholipase A2 activity [GO:0032430]; positive regulation of reactive oxygen species metabolic process [GO:2000379]; regulation of blood vessel diameter [GO:0097746]; regulation of blood vessel diameter by renin-angiotensin [GO:0002034]; regulation of cell growth [GO:0001558]; regulation of cell proliferation [GO:0042127]; regulation of inflammatory response [GO:0050727]; regulation of renal sodium excretion [GO:0035813]; regulation of systemic arterial blood pressure by renin-angiotensin [GO:0003081]; regulation of vasoconstriction [GO:0019229]; renin-angiotensin regulation of aldosterone production [GO:0002018]; Rho protein signal transduction [GO:0007266]


