# annotation

uniprotID: Q9H568
geneSymbol: ACTL8
name: Actin-like protein 8 (Cancer/testis antigen 57) (CT57)
length: 366
go: ENSG00000117148;
opentargets: cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; epithelial cell differentiation [GO:0030855]
snps: rs694214 rs3795322
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}.
sequence:


uniprotID: O60241
geneSymbol: ADGRB2
name: Adhesion G protein-coupled receptor B2 (Brain-specific angiogenesis inhibitor 2)
length: 1585
go: ENSG00000121753;
snps: rs778361520
sequence:

opentargets:
centrosome [GO:0005813]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; calcineurin-NFAT signaling cascade [GO:0033173]; cell surface receptor signaling pathway [GO:0007166]; G protein-coupled receptor signaling pathway [GO:0007186]; negative regulation of angiogenesis [GO:0016525]; peripheral nervous system development [GO:0007422]; positive regulation of synapse assembly [GO:0051965]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O60241-1; Sequence=Displayed; Name=2; IsoId=O60241-2; Sequence=VSP_037047; Name=3; IsoId=O60241-3; Sequence=VSP_037045; Name=4; IsoId=O60241-4; Sequence=VSP_037046, VSP_037047; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:28891236}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: P52594
geneSymbol: AGFG1
reactome: R-HSA-8856825;R-HSA-8856828;
pdb: 2D9L;2OLM;2VX8;
length: 562
go: ENSG00000173744;
name:
Arf-GAP domain and FG repeat-containing protein 1 (HIV-1 Rev-binding protein) (Nucleoporin-like protein RIP) (Rev-interacting protein) (Rev/Rex activation domain-binding protein)

sequence:

opentargets:
cell projection [GO:0042995]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; neuronal cell body [GO:0043025]; nuclear pore [GO:0005643]; DNA binding [GO:0003677]; GTPase activator activity [GO:0005096]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; acrosome assembly [GO:0001675]; intermediate filament organization [GO:0045109]; membrane organization [GO:0061024]; mRNA export from nucleus [GO:0006406]; multicellular organism development [GO:0007275]; spermatid nucleus differentiation [GO:0007289]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P52594-1; Sequence=Displayed; Name=2; IsoId=P52594-2; Sequence=VSP_017600; Name=3; IsoId=P52594-3; Sequence=VSP_017601; Name=4; IsoId=P52594-4; Sequence=VSP_046186, VSP_017601; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10613896, ECO:0000269|PubMed:7634337}. Cytoplasmic vesicle {ECO:0000269|PubMed:10613896}.


uniprotID: Q9NZN9
geneSymbol: AIPL1
pdb: 5U9A;5U9I;5U9J;5U9K;5V35;
name: Aryl-hydrocarbon-interacting protein-like 1
length: 384
go: ENSG00000129221;
snps: rs16955859 rs12449580 rs16955851 rs62637012 rs62637015
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; photoreceptor inner segment [GO:0001917]; farnesylated protein binding [GO:0001918]; unfolded protein binding [GO:0051082]; negative regulation of apoptotic process [GO:0043066]; phototransduction, visible light [GO:0007603]; protein farnesylation [GO:0018343]; regulation of rhodopsin mediated signaling pathway [GO:0022400]; retina homeostasis [GO:0001895]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9NZN9-1; Sequence=Displayed; Name=2; IsoId=Q9NZN9-2; Sequence=VSP_041507; Name=3; Synonyms=AIPL2; IsoId=Q9NZN9-3; Sequence=VSP_041508; Name=4; IsoId=Q9NZN9-4; Sequence=VSP_047708; Name=5; IsoId=Q9NZN9-5; Sequence=VSP_047709; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12374762}. Nucleus {ECO:0000269|PubMed:12374762}.


uniprotID: Q8NCV1
geneSymbol: ADAD2
name: Adenosine deaminase domain-containing protein 2 (Testis nuclear RNA-binding protein-like)
length: 583
go: ENSG00000140955;
snps: rs8044695 rs11149631
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleolus [GO:0005730]; nucleus [GO:0005634]; double-stranded RNA adenosine deaminase activity [GO:0003726]; double-stranded RNA binding [GO:0003725]; tRNA-specific adenosine deaminase activity [GO:0008251]; adenosine to inosine editing [GO:0006382]; RNA processing [GO:0006396]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NCV1-1; Sequence=Displayed; Name=2; IsoId=Q8NCV1-2; Sequence=VSP_029230, VSP_029231; 


uniprotID: Q3LIE5
geneSymbol: ADPRM
reactome: R-HSA-2393930;
length: 342
go: ENSG00000170222;
snps: rs34940296 rs406446
name:
Manganese-dependent ADP-ribose/CDP-alcohol diphosphatase (EC 3.6.1.13) (EC 3.6.1.16) (EC 3.6.1.53) (ADPRibase-Mn) (CDP-choline phosphohydrolase)

sequence:

opentargets:
cytosol [GO:0005829]; ADP-ribose diphosphatase activity [GO:0047631]; CDP-glycerol diphosphatase activity [GO:0047734]; metal ion binding [GO:0046872]; nucleobase-containing small molecule catabolic process [GO:0034656]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q3LIE5-1; Sequence=Displayed; Name=2; IsoId=Q3LIE5-3; Sequence=VSP_025092, VSP_025093; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q9NPJ3
geneSymbol: ACOT13
reactome: R-HSA-77289;
pdb: 2F0X;2H4U;3F5O;
length: 140
go: ENSG00000112304;
drug: DB08688;
name:
Acyl-coenzyme A thioesterase 13 (Acyl-CoA thioesterase 13) (EC 3.1.2.-) (Thioesterase superfamily member 2) [Cleaved into: Acyl-coenzyme A thioesterase 13, N-terminally processed]

sequence:
MTSMTQSLREVIKAMTKARNFERVLGKITLVSAAPGKVICEMKVEEEHTNAIGTLHGGLTATLVDNISTMALLCTERGAPGVSVDMNITYMSPAKLGEDIVITAHVLKQGKTLAFTSVDLTNKATGKLIAQGRHTKHLGN

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; spindle [GO:0005819]; acyl-CoA hydrolase activity [GO:0047617]; acyl-CoA metabolic process [GO:0006637]; negative regulation of cold-induced thermogenesis [GO:0120163]; protein homotetramerization [GO:0051289]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NPJ3-1; Sequence=Displayed; Name=2; IsoId=Q9NPJ3-2; Sequence=VSP_046101; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q9CQR4}. Mitochondrion {ECO:0000250|UniProtKB:Q9CQR4}. Nucleus {ECO:0000250|UniProtKB:Q9CQR4}. Cytoplasm, cytoskeleton, spindle {ECO:0000250|UniProtKB:Q9CQR4}. Note=During interphase, found both in the nucleus and in the cytoplasm. At mitosis, localizes to the spindle. Colocalizes with tubulin. {ECO:0000250|UniProtKB:Q9CQR4}.


uniprotID: P07550
geneSymbol: ADRB2
reactome: R-HSA-390696;R-HSA-418555;R-HSA-5689880;R-HSA-8856825;R-HSA-8856828;
name: Beta-2 adrenergic receptor (Beta-2 adrenoreceptor) (Beta-2 adrenoceptor)
length: 413
go: ENSG00000169252;
snps: rs33973603 rs1042713 rs1042714 rs990810566 rs1800888 rs3729943 rs771585355
pdb:
1GQ4;2R4R;2R4S;2RH1;3D4S;3KJ6;3NY8;3NY9;3NYA;3P0G;3PDS;3SN6;4GBR;4LDE;4LDL;4LDO;4QKX;5D5A;5D5B;5D6L;5JQH;5X7D;

sequence:

opentargets:
apical plasma membrane [GO:0016324]; clathrin-coated vesicle membrane [GO:0030665]; early endosome [GO:0005769]; endosome [GO:0005768]; endosome membrane [GO:0010008]; integral component of plasma membrane [GO:0005887]; lysosome [GO:0005764]; membrane [GO:0016020]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; adenylate cyclase binding [GO:0008179]; adrenergic receptor activity [GO:0004935]; amyloid-beta binding [GO:0001540]; beta2-adrenergic receptor activity [GO:0004941]; epinephrine binding [GO:0051379]; norepinephrine binding [GO:0051380]; potassium channel regulator activity [GO:0015459]; protein homodimerization activity [GO:0042803]; protein-containing complex binding [GO:0044877]; activation of adenylate cyclase activity [GO:0007190]; activation of transmembrane receptor protein tyrosine kinase activity [GO:0007171]; adenylate cyclase-activating adrenergic receptor signaling pathway [GO:0071880]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; adrenergic receptor signaling pathway [GO:0071875]; bone resorption [GO:0045453]; brown fat cell differentiation [GO:0050873]; cell surface receptor signaling pathway [GO:0007166]; cellular response to amyloid-beta [GO:1904646]; desensitization of G protein-coupled receptor signaling pathway by arrestin [GO:0002032]; diet induced thermogenesis [GO:0002024]; endosome to lysosome transport [GO:0008333]; G protein-coupled receptor signaling pathway [GO:0007186]; heat generation [GO:0031649]; membrane organization [GO:0061024]; negative regulation of multicellular organism growth [GO:0040015]; negative regulation of smooth muscle contraction [GO:0045986]; norepinephrine-epinephrine-mediated vasodilation involved in regulation of systemic arterial blood pressure [GO:0002025]; positive regulation of AMPA receptor activity [GO:2000969]; positive regulation of autophagosome maturation [GO:1901098]; positive regulation of bone mineralization [GO:0030501]; positive regulation of cAMP-dependent protein kinase activity [GO:2000481]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of lipophagy [GO:1904504]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of mini excitatory postsynaptic potential [GO:0061885]; positive regulation of protein kinase A signaling [GO:0010739]; positive regulation of protein serine/threonine kinase activity [GO:0071902]; positive regulation of protein ubiquitination [GO:0031398]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein deubiquitination [GO:0016579]; receptor-mediated endocytosis [GO:0006898]; regulation of sodium ion transport [GO:0002028]; response to cold [GO:0009409]; response to psychosocial stress [GO:1990911]

drug:
DB07543;DB01193;DB00866;DB00321;DB00182;DB01102;DB01274;DB06216;DB00335;DB01408;DB00195;DB00217;DB01295;DB00612;DB00901;DB08807;DB06726;DB08808;DB00248;DB00521;DB01136;DB04846;DB01407;DB01151;DB00449;DB00841;DB06262;DB01363;DB00668;DB01288;DB00983;DB05039;DB00221;DB01064;DB00598;DB01210;DB13139;DB01365;DB01214;DB00264;DB00370;DB01203;DB05849;DB04861;DB00368;DB00540;DB00334;DB09080;DB00816;DB01580;DB01359;DB00925;DB00397;DB00960;DB01291;DB01366;DB00571;DB00852;DB00867;DB01001;DB00938;DB00489;DB00871;DB00373;DB00726;DB09082;

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19584355, ECO:0000269|PubMed:20559325, ECO:0000269|PubMed:25220262, ECO:0000269|PubMed:2831218, ECO:0000269|PubMed:7915137}; Multi-pass membrane protein {ECO:0000269|PubMed:19584355}. Early endosome {ECO:0000269|PubMed:20559325}. Note=Colocalizes with VHL at the cell membrane (PubMed:19584355). Activated receptors are internalized into endosomes prior to their degradation in lysosomes (PubMed:20559325). {ECO:0000269|PubMed:19584355, ECO:0000269|PubMed:20559325}.


uniprotID: Q96IF1
geneSymbol: AJUBA
reactome: R-HSA-1234176;R-HSA-2565942;R-HSA-5617472;
name: LIM domain-containing protein ajuba
length: 538
go: ENSG00000129474;
sequence:

opentargets:
adherens junction [GO:0005912]; cell-cell junction [GO:0005911]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; Golgi apparatus [GO:0005794]; lamellipodium [GO:0030027]; microtubule organizing center [GO:0005815]; nucleus [GO:0005634]; P-body [GO:0000932]; plasma membrane [GO:0005886]; transcription factor complex [GO:0005667]; actin filament binding [GO:0051015]; alpha-catenin binding [GO:0045294]; chromatin binding [GO:0003682]; metal ion binding [GO:0046872]; transcription corepressor activity [GO:0003714]; calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0016339]; cellular protein localization [GO:0034613]; cytoskeleton organization [GO:0007010]; focal adhesion assembly [GO:0048041]; G2/M transition of mitotic cell cycle [GO:0000086]; gene silencing by miRNA [GO:0035195]; glycerophospholipid biosynthetic process [GO:0046474]; lamellipodium assembly [GO:0030032]; negative regulation of hippo signaling [GO:0035331]; negative regulation of kinase activity [GO:0033673]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of cellular biosynthetic process [GO:0031328]; positive regulation of gene silencing by miRNA [GO:2000637]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of protein complex assembly [GO:0031334]; regulation of cell migration [GO:0030334]; regulation of cellular response to hypoxia [GO:1900037]; regulation of GTPase activity [GO:0043087]; response to hypoxia [GO:0001666]; wound healing, spreading of epidermal cells [GO:0035313]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96IF1-1; Sequence=Displayed; Name=2; IsoId=Q96IF1-2; Sequence=VSP_044227; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cell membrane. Cell junction. Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, P-body. Note=Shuttles between the cytoplasm and the nucleus. Localizes on centrosomes during G2-M phase. Preferentially co- localizes with cadherin-adhesive complexes at sites of cell-cell contacts. Colocalizes with GFI1 in the nucleus.


uniprotID: Q9NWT8
geneSymbol: AURKAIP1
reactome: R-HSA-5368286;R-HSA-5389840;R-HSA-5419276;
pdb: 3J9M;
length: 199
go: ENSG00000175756;
snps: rs3736374
name:
Aurora kinase A-interacting protein (AURKA-interacting protein) (28S ribosomal protein S38, mitochondrial) (MRP-S38) (Mitochondrial small ribosomal subunit protein mS38)

sequence:
MLLGRLTSQLLRAVPWAGGRPPWPVSGVLGSRVCGPLYSTSPAGPGRAASLPRKGAQLELEEMLVPRKMSVSPLESWLTARCFLPRLDTGTAGTVAPPQSYQCPPSQIGEGAEQGDEGVADAPQIQCKNVLKIRRRKMNHHKYRKLVKKTRFLRRKVQEGRLRRKQIKFEKDLRRIWLKAGLKEAPEGWQTPKIYLRGK

opentargets:
intracellular membrane-bounded organelle [GO:0043231]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ribosome [GO:0005840]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]; mRNA processing [GO:0006397]; negative regulation of mitotic nuclear division [GO:0045839]; positive regulation of proteolysis [GO:0045862]

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:23908630}. Nucleus {ECO:0000269|PubMed:23908630}.


uniprotID: Q53H64
geneSymbol: ANKRD40CL
name: Putative ANKRD40 C-terminal-like protein
length: 114
go: ENSG00000167117;
sequence:
MAEPEQDIGEKPAVRIQNPKENDFIEIELKRQELSYQNLLNVSCCELGIKPERVEKIRKLPNTLLRKDKDIRRLRDFQEVELILMKNGSSRLTEYVPSLTERPCYDSKAAKMTY


uniprotID: O95490
geneSymbol: ADGRL2
length: 1459
go: ENSG00000117114;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}.
name:
Adhesion G protein-coupled receptor L2 (Calcium-independent alpha-latrotoxin receptor 2) (CIRL-2) (Latrophilin homolog 1) (Latrophilin-2) (Lectomedin-1)

sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; neuron projection [GO:0043005]; carbohydrate binding [GO:0030246]; G protein-coupled receptor activity [GO:0004930]; latrotoxin receptor activity [GO:0016524]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; brain development [GO:0007420]; cell surface receptor signaling pathway [GO:0007166]; G protein-coupled receptor signaling pathway [GO:0007186]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=O95490-1; Sequence=Displayed; Name=2; Synonyms=Lectomedin-1 gamma; IsoId=O95490-2; Sequence=VSP_010104, VSP_010107; Name=3; Synonyms=Lectomedin-1 beta; IsoId=O95490-3; Sequence=VSP_010104, VSP_010105, VSP_010106; Name=4; Synonyms=Lectomedin-1 alpha; IsoId=O95490-4; Sequence=VSP_010104, VSP_010107, VSP_010108, VSP_010109; Name=5; IsoId=O95490-5; Sequence=VSP_010107; Note=No experimental confirmation.; Name=6; IsoId=O95490-6; Sequence=VSP_042267; Name=7; IsoId=O95490-7; Sequence=VSP_010104, VSP_042267; Note=No experimental confirmation.; 


uniprotID: Q14246
geneSymbol: ADGRE1
reactome: R-HSA-373080;
length: 886
go: ENSG00000174837;
name:
Adhesion G protein-coupled receptor E1 (EGF-like module receptor 1) (EGF-like module-containing mucin-like hormone receptor-like 1) (EMR1 hormone receptor)

sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; calcium ion binding [GO:0005509]; G protein-coupled receptor activity [GO:0004930]; adaptive immune response [GO:0002250]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; cell adhesion [GO:0007155]; cell surface receptor signaling pathway [GO:0007166]; G protein-coupled receptor signaling pathway [GO:0007186]

snps:
rs34176643 rs330877 rs330880 rs897738 rs443658 rs370094 rs466876 rs457857 rs373533 rs461645 rs7256147 rs2228539 rs2229769 rs10406580 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q14246-1; Sequence=Displayed; Name=2; IsoId=Q14246-2; Sequence=VSP_009594; Note=No experimental confirmation available.; Name=3; IsoId=Q14246-3; Sequence=VSP_045521, VSP_045524; Note=No experimental confirmation available.; Name=4; IsoId=Q14246-4; Sequence=VSP_045523; Note=No experimental confirmation available.; Name=5; IsoId=Q14246-5; Sequence=VSP_045521, VSP_045522; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:24530099}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q9H2A2
geneSymbol: ALDH8A1
reactome: R-HSA-5365859;
name: Aldehyde dehydrogenase family 8 member A1 (EC 1.2.1.-) (Aldehyde dehydrogenase 12)
length: 487
go: ENSG00000118514;
snps: rs2294315
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intracellular [GO:0005622]; retinal dehydrogenase activity [GO:0001758]; 9-cis-retinoic acid biosynthetic process [GO:0042904]; retinal metabolic process [GO:0042574]; retinoic acid metabolic process [GO:0042573]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9H2A2-1; Sequence=Displayed; Name=2; IsoId=Q9H2A2-2; Sequence=VSP_029972; Note=Lacks enzymatic activity.; Name=3; IsoId=Q9H2A2-3; Sequence=VSP_039759, VSP_039760; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; Name=4; IsoId=Q9H2A2-4; Sequence=VSP_043279; Note=No experimental confirmation available.; 


uniprotID: P49189
geneSymbol: ALDH9A1
reactome: R-HSA-71262;
length: 494
drug: DB00157;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
4-trimethylaminobutyraldehyde dehydrogenase (TMABADH) (EC 1.2.1.47) (Aldehyde dehydrogenase E3 isozyme) (Aldehyde dehydrogenase family 9 member A1) (EC 1.2.1.3) (Gamma-aminobutyraldehyde dehydrogenase) (EC 1.2.1.19) (R-aminobutyraldehyde dehydrogenase) [Cleaved into: 4-trimethylaminobutyraldehyde dehydrogenase, N-terminally processed]

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; 1-pyrroline dehydrogenase activity [GO:0033737]; 3-chloroallyl aldehyde dehydrogenase activity [GO:0004028]; 4-trimethylammoniobutyraldehyde dehydrogenase activity [GO:0047105]; aldehyde dehydrogenase (NAD) activity [GO:0004029]; aminobutyraldehyde dehydrogenase activity [GO:0019145]; glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity [GO:0043878]; carnitine biosynthetic process [GO:0045329]; cellular aldehyde metabolic process [GO:0006081]; hormone metabolic process [GO:0042445]; neurotransmitter biosynthetic process [GO:0042136]; oxidation-reduction process [GO:0055114]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P49189-1; Sequence=Displayed; Name=2; IsoId=P49189-2; Sequence=VSP_056305; Note=No experimental confirmation available.; 


uniprotID: P05091
geneSymbol: ALDH2
reactome: R-HSA-380612;R-HSA-71384;
name: Aldehyde dehydrogenase, mitochondrial (EC 1.2.1.3) (ALDH class 2) (ALDH-E2) (ALDHI)
length: 517
go: ENSG00000111275;
drug: DB01612;DB06770;DB04381;DB02115;DB00822;DB00536;DB00157;DB00435;DB00727;
snps: rs1062136 rs769724893 rs671
location: SUBCELLULAR LOCATION: Mitochondrion matrix.
pdb:
1CW3;1NZW;1NZX;1NZZ;1O00;1O01;1O02;1O04;1O05;1ZUM;2ONM;2ONN;2ONO;2ONP;2VLE;3INJ;3INL;3N80;3N81;3N82;3N83;3SZ9;4FQF;4FR8;4KWF;4KWG;5L13;

sequence:

opentargets:
extracellular exosome [GO:0070062]; mitochondrial matrix [GO:0005759]; aldehyde dehydrogenase (NAD) activity [GO:0004029]; aldehyde dehydrogenase [NAD(P)+] activity [GO:0004030]; electron transfer activity [GO:0009055]; glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity [GO:0043878]; NAD binding [GO:0051287]; alcohol metabolic process [GO:0006066]; carbohydrate metabolic process [GO:0005975]; ethanol catabolic process [GO:0006068]; ethanol oxidation [GO:0006069]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P05091-1; Sequence=Displayed; Name=2; IsoId=P05091-2; Sequence=VSP_046715; Note=No experimental confirmation available.; 


uniprotID: Q9ULX6
geneSymbol: AKAP8L
length: 646
go: ENSG00000011243;
snps: rs2058322
name:
A-kinase anchor protein 8-like (AKAP8-like protein) (Helicase A-binding protein 95) (HAP95) (Homologous to AKAP95 protein) (HA95) (Neighbor of A-kinase-anchoring protein 95) (Neighbor of AKAP95)

sequence:

opentargets:
chromatin [GO:0000785]; cytoplasm [GO:0005737]; nuclear matrix [GO:0016363]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; PML body [GO:0016605]; ribonucleoprotein complex [GO:1990904]; DEAD/H-box RNA helicase binding [GO:0017151]; DNA binding [GO:0003677]; histone deacetylase binding [GO:0042826]; lamin binding [GO:0005521]; metal ion binding [GO:0046872]; protein kinase A regulatory subunit binding [GO:0034237]; RNA binding [GO:0003723]; cell cycle G2/M phase transition [GO:0044839]; mitotic chromosome condensation [GO:0007076]; mRNA processing [GO:0006397]; nuclear envelope disassembly [GO:0051081]; positive regulation of histone deacetylation [GO:0031065]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of histone phosphorylation [GO:0033127]; regulation of mRNA export from nucleus [GO:0010793]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9ULX6-1; Sequence=Displayed; Name=2; IsoId=Q9ULX6-2; Sequence=VSP_044426; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10748171, ECO:0000269|PubMed:10761695}. Nucleus matrix {ECO:0000269|PubMed:11034899, ECO:0000269|PubMed:16391387}. Nucleus speckle {ECO:0000269|PubMed:17594903}. Nucleus, PML body {ECO:0000269|PubMed:11884601}. Cytoplasm {ECO:0000269|PubMed:10748171}. Note=Colocalizes with PRPF40A in the nuclear matrix (PubMed:16391387). Nuclear at steady state but shuttles between the nucleus and cytoplasm (PubMed:10748171). The shuttling property has been questioned (PubMed:11034899). Colocalizes with EBNA-LP in PML bodies (PubMed:11884601). {ECO:0000269|PubMed:10748171, ECO:0000269|PubMed:11034899, ECO:0000269|PubMed:11884601, ECO:0000269|PubMed:16391387}.


uniprotID: Q96F25
geneSymbol: ALG14
reactome: R-HSA-446193;R-HSA-5633231;
name: UDP-N-acetylglucosamine transferase subunit ALG14 homolog
length: 216
go: ENSG00000172339;
snps: rs11165298 rs730882050
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; nuclear membrane [GO:0031965]; N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity [GO:0004577]; dolichol-linked oligosaccharide biosynthetic process [GO:0006488]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:P38242}; Single-pass membrane protein {ECO:0000255}. Nucleus membrane {ECO:0000250|UniProtKB:P38242}; Single-pass membrane protein {ECO:0000255}.


uniprotID: O75969
geneSymbol: AKAP3
length: 853
go: ENSG00000111254;
snps: rs2072355 rs11063266 rs12366671 rs1990312 rs1990313 rs2041291 rs2041290 rs2072357 rs143517596
name:
A-kinase anchor protein 3 (AKAP-3) (A-kinase anchor protein 110 kDa) (AKAP 110) (Cancer/testis antigen 82) (CT82) (Fibrous sheath protein of 95 kDa) (FSP95) (Fibrousheathin I) (Fibrousheathin-1) (Protein kinase A-anchoring protein 3) (PRKA3) (Sperm oocyte-binding protein)

sequence:

opentargets:
acrosomal vesicle [GO:0001669]; cytoplasm [GO:0005737]; nucleus [GO:0005634]; sperm fibrous sheath [GO:0035686]; sperm principal piece [GO:0097228]; protein kinase A binding [GO:0051018]; acrosome reaction [GO:0007340]; blastocyst hatching [GO:0001835]; protein localization [GO:0008104]; regulation of protein kinase A signaling [GO:0010738]; single fertilization [GO:0007338]; transmembrane receptor protein serine/threonine kinase signaling pathway [GO:0007178]

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000250}. Note=Ribs of the fibrous sheath in the principal piece of the sperm tail. Dorsal margin of the acrosomal segment.


uniprotID: Q5JQC9
geneSymbol: AKAP4
length: 854
go: ENSG00000147081;
snps: rs17174078 rs12012704
name:
A-kinase anchor protein 4 (AKAP-4) (A-kinase anchor protein 82 kDa) (AKAP 82) (hAKAP82) (Major sperm fibrous sheath protein) (HI) (Protein kinase A-anchoring protein 4) (PRKA4)

sequence:

opentargets:
cAMP-dependent protein kinase complex [GO:0005952]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; motile cilium [GO:0031514]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; sperm fibrous sheath [GO:0035686]; sperm principal piece [GO:0097228]; Z disc [GO:0030018]; protein kinase A binding [GO:0051018]; establishment of protein localization [GO:0045184]; flagellated sperm motility [GO:0030317]; motile cilium assembly [GO:0044458]; regulation of protein kinase A signaling [GO:0010738]; signal transduction [GO:0007165]; single fertilization [GO:0007338]; transmembrane receptor protein serine/threonine kinase signaling pathway [GO:0007178]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:9514854}; IsoId=Q5JQC9-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:9822690}; IsoId=Q5JQC9-2; Sequence=VSP_052142; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium, flagellum {ECO:0000269|PubMed:9822690}. Note=Localizes to the principle piece of the sperm flagellum.


uniprotID: P24588
geneSymbol: AKAP5
reactome: R-HSA-381676;R-HSA-399719;R-HSA-9010642;
pdb: 2H9R;3LL8;5NIN;
length: 427
go: ENSG00000179841;
snps: rs2230491 rs1256149 rs34433837
name:
A-kinase anchor protein 5 (AKAP-5) (A-kinase anchor protein 79 kDa) (AKAP 79) (H21) (cAMP-dependent protein kinase regulatory subunit II high affinity-binding protein)

sequence:

opentargets:
cytoplasmic side of plasma membrane [GO:0009898]; cytosol [GO:0005829]; dendrite membrane [GO:0032590]; dendritic spine [GO:0043197]; excitatory synapse [GO:0060076]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; adenylate cyclase binding [GO:0008179]; beta-2 adrenergic receptor binding [GO:0031698]; calmodulin binding [GO:0005516]; GABA receptor binding [GO:0050811]; glutamate receptor binding [GO:0035254]; protein kinase A binding [GO:0051018]; protein kinase A regulatory subunit binding [GO:0034237]; protein phosphatase 2B binding [GO:0030346]; protein-containing complex scaffold activity [GO:0032947]; scaffold protein binding [GO:0097110]; SH3 domain binding [GO:0017124]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; chemical synaptic transmission [GO:0007268]; positive regulation of adenylate cyclase activity [GO:0045762]; positive regulation of protein localization to plasma membrane [GO:1903078]; protein targeting [GO:0006605]; regulation of protein kinase A signaling [GO:0010738]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:21771783}; Lipid-anchor {ECO:0000269|PubMed:21771783}. Note=Associates with lipid rafts.


uniprotID: Q16671
geneSymbol: AMHR2
reactome: R-HSA-201451;
length: 573
go: ENSG00000135409;
drug: DB00171;
snps: rs534999427 rs539695176 rs144236183 rs137853104 rs775889926 rs780680518 rs772294564
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Anti-Muellerian hormone type-2 receptor (EC 2.7.11.30) (Anti-Muellerian hormone type II receptor) (AMH type II receptor) (MIS type II receptor) (MISRII) (MRII)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; anti-Mullerian hormone receptor activity [GO:1990272]; ATP binding [GO:0005524]; growth factor binding [GO:0019838]; hormone binding [GO:0042562]; metal ion binding [GO:0046872]; SMAD binding [GO:0046332]; transforming growth factor beta receptor activity, type II [GO:0005026]; transforming growth factor beta-activated receptor activity [GO:0005024]; anti-Mullerian hormone signaling pathway [GO:1990262]; BMP signaling pathway [GO:0030509]; female gonad development [GO:0008585]; male gonad development [GO:0008584]; Mullerian duct regression [GO:0001880]; pattern specification process [GO:0007389]; sex differentiation [GO:0007548]; transforming growth factor beta receptor signaling pathway [GO:0007179]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q16671-1; Sequence=Displayed; Name=2; IsoId=Q16671-2; Sequence=VSP_044548; Note=No experimental confirmation available.; Name=3; IsoId=Q16671-3; Sequence=VSP_045281; 


uniprotID: A9YTQ3
geneSymbol: AHRR
reactome: R-HSA-1989781;R-HSA-8937144;
pdb: 5Y7Y;
length: 701
go: ENSG00000063438;
snps: rs35008248 rs2292596 rs2303738 rs34453673
name:
Aryl hydrocarbon receptor repressor (AhR repressor) (AhRR) (Class E basic helix-loop-helix protein 77) (bHLHe77)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; negative regulation of transcription by RNA polymerase II [GO:0000122]; response to xenobiotic stimulus [GO:0009410]; xenobiotic metabolic process [GO:0006805]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=A9YTQ3-1; Sequence=Displayed; Name=2; IsoId=A9YTQ3-2; Sequence=VSP_033564; Name=3; IsoId=A9YTQ3-3; Sequence=VSP_033563, VSP_033564; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17980155}. Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981, ECO:0000269|PubMed:17980155}. Note=Predominantly in the nuclear compartment. First cytoplasmic, translocates into the nuclear compartment upon interaction with ARNT in the cytoplasmic compartment.


uniprotID: Q12904
geneSymbol: AIMP1
reactome: R-HSA-2408517;R-HSA-379716;
pdb: 1E7Z;1EUJ;1FL0;4R3Z;
length: 312
go: ENSG00000164022;
snps: rs1134648 rs113844295 rs2230255
name:
Aminoacyl tRNA synthase complex-interacting multifunctional protein 1 (Multisynthase complex auxiliary component p43) [Cleaved into: Endothelial monocyte-activating polypeptide 2 (EMAP-2) (Endothelial monocyte-activating polypeptide II) (EMAP-II) (Small inducible cytokine subfamily E member 1)]

sequence:

opentargets:
aminoacyl-tRNA synthetase multienzyme complex [GO:0017101]; cell surface [GO:0009986]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; membrane [GO:0016020]; methionyl glutamyl tRNA synthetase complex [GO:0017102]; nucleus [GO:0005634]; cytokine activity [GO:0005125]; GTPase binding [GO:0051020]; protein homodimerization activity [GO:0042803]; tRNA binding [GO:0000049]; angiogenesis [GO:0001525]; apoptotic process [GO:0006915]; cell adhesion [GO:0007155]; cell-cell signaling [GO:0007267]; chemotaxis [GO:0006935]; defense response to virus [GO:0051607]; inflammatory response [GO:0006954]; leukocyte migration [GO:0050900]; negative regulation of endothelial cell proliferation [GO:0001937]; positive regulation of glucagon secretion [GO:0070094]; response to wounding [GO:0009611]; signal transduction [GO:0007165]; tRNA aminoacylation for protein translation [GO:0006418]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q12904-1; Sequence=Displayed; Name=2; IsoId=Q12904-2; Sequence=VSP_042197; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14500886}. Cytoplasm, cytosol {ECO:0000269|PubMed:19289464}. Secreted {ECO:0000269|PubMed:10850427}. Endoplasmic reticulum {ECO:0000250|UniProtKB:P31230}. Golgi apparatus {ECO:0000250|UniProtKB:P31230}. Note=Enriched in secretory vesicles of pancreatic alpha cells and secreted from the pancreas in response to low glucose levels (By similarity). Secreted in response to hypoxia (PubMed:10850427). Also secreted in response to both apoptotic and necrotic cell death. {ECO:0000250|UniProtKB:P31230, ECO:0000269|PubMed:10850427}.


uniprotID: Q8IZP9
geneSymbol: ADGRG2
length: 1017
go: ENSG00000173698;
snps: rs140334931 rs35974297 rs3924227
name:
Adhesion G-protein coupled receptor G2 (G-protein coupled receptor 64) (Human epididymis-specific protein 6) (He6)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; cell surface [GO:0009986]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; cell surface receptor signaling pathway [GO:0007166]; G protein-coupled receptor signaling pathway [GO:0007186]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=10;  Name=1; Synonyms=Long splice variant; IsoId=Q8IZP9-1; Sequence=Displayed; Name=2; IsoId=Q8IZP9-2; Sequence=VSP_009791; Name=3; Synonyms=d1; IsoId=Q8IZP9-3; Sequence=VSP_009792; Name=4; Synonyms=24; IsoId=Q8IZP9-4; Sequence=VSP_009793; Name=5; Synonyms=23; IsoId=Q8IZP9-5; Sequence=VSP_009794; Name=6; Synonyms=d3; IsoId=Q8IZP9-6; Sequence=VSP_009795; Name=7; Synonyms=d2; IsoId=Q8IZP9-7; Sequence=VSP_009796; Name=8; Synonyms=21; IsoId=Q8IZP9-8; Sequence=VSP_009797; Name=9; Synonyms=Delta exon 28; IsoId=Q8IZP9-9; Sequence=VSP_009798; Name=10; IsoId=Q8IZP9-10; Sequence=VSP_009792, VSP_009793, VSP_054522; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:12420295}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q6UXC1
geneSymbol: MAMDC4
name: Apical endosomal glycoprotein (MAM domain-containing protein 4)
length: 1216
go: ENSG00000177943;
opentargets: integral component of membrane [GO:0016021]; protein transport [GO:0015031]
snps: rs755530502 rs2275156 rs138623341
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1 {ECO:0000269|PubMed:15164053}; IsoId=Q6UXC1-1; Sequence=Displayed; Note=Gene prediction based on similarity to rat ortholog. No experimental confirmation available.; Name=2 {ECO:0000269|PubMed:12975309}; IsoId=Q6UXC1-2; Sequence=VSP_052395; Note=No experimental confirmation available.; Name=3; IsoId=Q6UXC1-3; Sequence=VSP_026431, VSP_026432; Note=May be due to intron retention. No experimental confirmation available.; 


uniprotID: Q9NQ31
geneSymbol: AKIP1
length: 210
go: ENSG00000166452;
snps: rs1133833 rs35131475
name:
A-kinase-interacting protein 1 (Breast cancer-associated gene 3 protein) (PKA-interacting protein) (Proline-rich protein BCA3)

sequence:

opentargets:
nucleoplasm [GO:0005654]; regulation of NIK/NF-kappaB signaling [GO:1901222]; substrate adhesion-dependent cell spreading [GO:0034446]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=1a; IsoId=Q9NQ31-1; Sequence=Displayed; Name=2; IsoId=Q9NQ31-2; Sequence=VSP_013276; Name=3; Synonyms=1b; IsoId=Q9NQ31-3; Sequence=VSP_013275; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15630084, ECO:0000269|PubMed:18178962}. Note=Locates to punctate spots.


uniprotID: P22570
geneSymbol: FDXR
reactome: R-HSA-196108;R-HSA-211976;R-HSA-2395516;R-HSA-5579026;
length: 491
go: ENSG00000161513;
drug: DB03461;DB03147;
snps: rs28365947 rs690514 rs35692345 rs35072974 rs34038065 rs34118765 rs35660143 rs35696549 rs35769464
name:
NADPH:adrenodoxin oxidoreductase, mitochondrial (AR) (Adrenodoxin reductase) (EC 1.18.1.6) (Ferredoxin--NADP(+) reductase) (Ferredoxin reductase)

sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; ferredoxin-NADP+ reductase activity [GO:0004324]; NADPH-adrenodoxin reductase activity [GO:0015039]; oxidoreductase activity [GO:0016491]; C21-steroid hormone biosynthetic process [GO:0006700]; cholesterol metabolic process [GO:0008203]; generation of precursor metabolites and energy [GO:0006091]; oxidation-reduction process [GO:0055114]; steroid biosynthetic process [GO:0006694]; sterol metabolic process [GO:0016125]; ubiquinone biosynthetic process [GO:0006744]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=Short; IsoId=P22570-1; Sequence=Displayed; Name=Long; IsoId=P22570-2; Sequence=VSP_003416; Note=Represents 10-20% of all adrenodoxin reductase mRNAs and seems to be inactive.; Name=3; IsoId=P22570-3; Sequence=VSP_045135; Name=4; IsoId=P22570-4; Sequence=VSP_046669; Name=5; IsoId=P22570-5; Sequence=VSP_046673; Name=6; IsoId=P22570-6; Sequence=VSP_046671, VSP_046672; Note=No experimental confirmation available.; Name=7; IsoId=P22570-7; Sequence=VSP_046670; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250|UniProtKB:P48360}; Peripheral membrane protein {ECO:0000305}.


uniprotID: Q8TF27
geneSymbol: AGAP11
length: 550
opentargets: nucleus [GO:0005634]; GTPase activator activity [GO:0005096]; metal ion binding [GO:0046872]
snps: rs2641563
name:
Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 11 (AGAP-11) (Centaurin-gamma-like protein KIAA1975)

sequence:


uniprotID: O60503
geneSymbol: ADCY9
length: 1353
go: ENSG00000162104;
snps: rs2230739 rs61731445
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 9 (EC 4.6.1.1) (ATP pyrophosphate-lyase 9) (Adenylate cyclase type IX) (ACIX) (Adenylyl cyclase 9) (AC9)

sequence:

opentargets:
axon [GO:0030424]; dendrite [GO:0030425]; 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 adrenergic receptor signaling pathway [GO:0071880]; 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 glucagon stimulus [GO:0071377]; G protein-coupled receptor signaling pathway [GO:0007186]; renal water homeostasis [GO:0003091]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10987815, ECO:0000269|PubMed:9628827}; Multi-pass membrane protein {ECO:0000305}.


uniprotID: Q9UHX3
geneSymbol: ADGRE2
reactome: R-HSA-373080;
pdb: 2BO2;2BOU;2BOX;
length: 823
go: ENSG00000127507;
snps: rs35612307 rs199718602 rs4410209 rs2524383 rs3752187 rs57865820
name:
Adhesion G protein-coupled receptor E2 (EGF-like module receptor 2) (EGF-like module-containing mucin-like hormone receptor-like 2) (CD antigen CD312)

sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; leading edge membrane [GO:0031256]; plasma membrane [GO:0005886]; ruffle membrane [GO:0032587]; calcium ion binding [GO:0005509]; chondroitin sulfate binding [GO:0035374]; G protein-coupled receptor activity [GO:0004930]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; cell adhesion [GO:0007155]; cell migration [GO:0016477]; cell surface receptor signaling pathway [GO:0007166]; G protein-coupled receptor signaling pathway [GO:0007186]; granulocyte chemotaxis [GO:0071621]; inflammatory response [GO:0006954]; regulation of mast cell degranulation [GO:0043304]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Comment=A number of isoforms are probably produced. A soluble form due to a frameshift which introduced a stop codon immediately before the first TM domain is also detected.; Name=1; IsoId=Q9UHX3-1; Sequence=Displayed; Name=2; IsoId=Q9UHX3-2; Sequence=VSP_041367; Name=3; IsoId=Q9UHX3-3; Sequence=VSP_041366; Name=4; IsoId=Q9UHX3-4; Sequence=VSP_041365; Name=5; IsoId=Q9UHX3-5; Sequence=VSP_041364; Name=6; IsoId=Q9UHX3-6; Sequence=VSP_047535; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22310662, ECO:0000269|PubMed:26841242}; Multi-pass membrane protein. Cell projection, ruffle membrane {ECO:0000269|PubMed:17928360}; Multi-pass membrane protein. Note=Localized at the leading edge of migrating cells. {ECO:0000269|PubMed:17928360}.


uniprotID: Q99490
geneSymbol: AGAP2
reactome: R-HSA-373752;
pdb: 2BMJ;2IWR;2RLO;
length: 1192
go: ENSG00000135439;
snps: rs2301553 rs238521
location: SUBCELLULAR LOCATION: Isoform 1: Cytoplasm. Nucleus.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm.
name:
Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2 (AGAP-2) (Centaurin-gamma-1) (Cnt-g1) (GTP-binding and GTPase-activating protein 2) (GGAP2) (Phosphatidylinositol 3-kinase enhancer) (PIKE)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; nucleus [GO:0005634]; GTP binding [GO:0005525]; GTPase activator activity [GO:0005096]; GTPase activity [GO:0003924]; metal ion binding [GO:0046872]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of protein catabolic process [GO:0042177]; positive regulation of 1-phosphatidylinositol-3-kinase activity [GO:0061903]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=PIKE-L; IsoId=Q99490-1; Sequence=Displayed; Name=2; Synonyms=PIKE-A; IsoId=Q99490-2; Sequence=VSP_018531, VSP_018532, VSP_018533; 


uniprotID: P35869
geneSymbol: AHR
reactome: R-HSA-1989781;R-HSA-211945;R-HSA-211976;R-HSA-211981;R-HSA-8937144;
pdb: 5NJ8;
name: Aryl hydrocarbon receptor (Ah receptor) (AhR) (Class E basic helix-loop-helix protein 76) (bHLHe76)
length: 848
go: ENSG00000106546;
drug: DB01076;DB00499;DB01404;DB01097;DB00379;DB00393;
snps: rs72552768 rs2066853 rs4986826 rs72552769
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; cytosolic aryl hydrocarbon receptor complex [GO:0034752]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; transcription factor complex [GO:0005667]; aryl hydrocarbon receptor activity [GO:0004874]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; E-box binding [GO:0070888]; enhancer binding [GO:0035326]; Hsp90 protein binding [GO:0051879]; nuclear receptor activity [GO:0004879]; protein dimerization activity [GO:0046983]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; sequence-specific double-stranded DNA binding [GO:1990837]; TBP-class protein binding [GO:0017025]; TFIID-class transcription factor complex binding [GO:0001094]; transcription coactivator binding [GO:0001223]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; apoptotic process [GO:0006915]; blood vessel development [GO:0001568]; cAMP-mediated signaling [GO:0019933]; cell cycle [GO:0007049]; cellular response to 2,3,7,8-tetrachlorodibenzodioxine [GO:1904613]; cellular response to cAMP [GO:0071320]; cellular response to forskolin [GO:1904322]; circadian regulation of gene expression [GO:0032922]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of B cell proliferation [GO:0030888]; regulation of gene expression [GO:0010468]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription, DNA-templated [GO:0006355]; response to toxic substance [GO:0009636]; response to xenobiotic stimulus [GO:0009410]; transcription by RNA polymerase II [GO:0006366]; xenobiotic metabolic process [GO:0006805]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P30561}. Nucleus {ECO:0000250|UniProtKB:P30561}. Note=Initially cytoplasmic; upon binding with ligand and interaction with a HSP90, it translocates to the nucleus. {ECO:0000250|UniProtKB:P30561}.


uniprotID: Q53H80
geneSymbol: AKIRIN2
name: Akirin-2
length: 203
go: ENSG00000135334;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18066067}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcriptional repressor complex [GO:0017053]; enzyme binding [GO:0019899]; embryo development ending in birth or egg hatching [GO:0009792]; innate immune response [GO:0045087]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of cell proliferation [GO:0008284]; positive regulation of endopeptidase activity [GO:0010950]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of transcription by RNA polymerase II [GO:0045944]; response to lipopolysaccharide [GO:0032496]


uniprotID: Q9BQI0
geneSymbol: AIF1L
pdb: 2JJZ;2VTG;
name: Allograft inflammatory factor 1-like (Ionized calcium-binding adapter molecule 2)
length: 150
go: ENSG00000126878;
sequence:
MSGELSNRFQGGKAFGLLKARQERRLAEINREFLCDQKYSDEENLPEKLTAFKEKYMEFDLNNEGEIDLMSLKRMMEKLGVPKTHLEMKKMISEVTGGVSDTISYRDFVNMMLGKRSAVLKLVMMFEGKANESSPKPVGPPPERDIASLP

opentargets:
actin cytoskeleton [GO:0015629]; cell projection [GO:0042995]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; protein-containing complex [GO:0032991]; ruffle membrane [GO:0032587]; actin filament binding [GO:0051015]; calcium ion binding [GO:0005509]; actin filament bundle assembly [GO:0051017]; ruffle assembly [GO:0097178]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9BQI0-1; Sequence=Displayed; Name=2; IsoId=Q9BQI0-2; Sequence=VSP_017150; Name=3; IsoId=Q9BQI0-3; Sequence=VSP_017151; Name=4; IsoId=Q9BQI0-4; Sequence=VSP_017152, VSP_017153; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:18699778}. Cell projection, ruffle membrane {ECO:0000269|PubMed:18699778}; Peripheral membrane protein {ECO:0000269|PubMed:18699778}; Cytoplasmic side {ECO:0000269|PubMed:18699778}. Note=Colocalizes with F-actin. Partially relocates to membrane ruffles in response to invading bacteria.


uniprotID: Q7Z7M1
geneSymbol: ADGRD2
length: 963
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}.
name:
Adhesion G-protein coupled receptor D2 (G-protein coupled receptor 144) (G-protein coupled receptor PGR24)

sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; G protein-coupled receptor activity [GO:0004930]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; cell surface receptor signaling pathway [GO:0007166]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: O43572
geneSymbol: AKAP10
reactome: R-HSA-983231;
pdb: 3IM4;3TMH;
length: 662
go: ENSG00000108599;
snps: rs2108978 rs203462
name:
A-kinase anchor protein 10, mitochondrial (AKAP-10) (Dual specificity A kinase-anchoring protein 2) (D-AKAP-2) (Protein kinase A-anchoring protein 10) (PRKA10)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; protein kinase A binding [GO:0051018]; blood coagulation [GO:0007596]; protein localization [GO:0008104]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:11248059}. Membrane {ECO:0000269|PubMed:11248059}. Cytoplasm {ECO:0000269|PubMed:11248059}. Note=Predominantly mitochondrial but also membrane associated and cytoplasmic.


uniprotID: P00352
geneSymbol: ALDH1A1
reactome: R-HSA-5365859;R-HSA-70350;R-HSA-71384;
pdb: 4WB9;4WJ9;4WP7;4WPN;4X4L;5AC2;5L2M;5L2N;5L2O;5TEI;
length: 501
go: ENSG00000165092;
drug: DB09462;DB00157;DB00755;DB00162;
snps: rs1049981 rs11554423 rs8187929
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:P48644}.
name:
Retinal dehydrogenase 1 (RALDH 1) (RalDH1) (EC 1.2.1.-) (EC 1.2.1.36) (ALDH-E1) (ALHDII) (Aldehyde dehydrogenase family 1 member A1) (Aldehyde dehydrogenase, cytosolic)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; aldehyde dehydrogenase (NAD) activity [GO:0004029]; androgen binding [GO:0005497]; benzaldehyde dehydrogenase (NAD+) activity [GO:0018479]; GTPase activator activity [GO:0005096]; NAD binding [GO:0051287]; retinal dehydrogenase activity [GO:0001758]; cellular aldehyde metabolic process [GO:0006081]; ethanol oxidation [GO:0006069]; fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate [GO:0061624]; negative regulation of cold-induced thermogenesis [GO:0120163]; oxidation-reduction process [GO:0055114]; retinoid metabolic process [GO:0001523]; retinol metabolic process [GO:0042572]


uniprotID: P17516
geneSymbol: AKR1C4
reactome: R-HSA-193368;R-HSA-193775;R-HSA-193807;R-HSA-975634;
pdb: 2FVL;
length: 323
go: ENSG00000198610;
drug: DB00157;
snps: rs11253043 rs3829125 rs17851824 rs4880718 rs17134592
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Aldo-keto reductase family 1 member C4 (EC 1.1.1.-) (3-alpha-HSD1) (3-alpha-hydroxysteroid dehydrogenase type I) (EC 1.1.1.357) (Chlordecone reductase) (CDR) (EC 1.1.1.225) (Dihydrodiol dehydrogenase 4) (DD-4) (DD4) (HAKRA)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; alcohol dehydrogenase (NADP+) activity [GO:0008106]; alditol:NADP+ 1-oxidoreductase activity [GO:0004032]; aldo-keto reductase (NADP) activity [GO:0004033]; androsterone dehydrogenase activity [GO:0047023]; bile acid transmembrane transporter activity [GO:0015125]; chlordecone reductase activity [GO:0047743]; electron transfer activity [GO:0009055]; ketosteroid monooxygenase activity [GO:0047086]; oxidoreductase activity [GO:0016491]; oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor [GO:0016655]; retinal dehydrogenase activity [GO:0001758]; steroid dehydrogenase activity [GO:0016229]; androgen metabolic process [GO:0008209]; bile acid and bile salt transport [GO:0015721]; bile acid biosynthetic process [GO:0006699]; cellular response to jasmonic acid stimulus [GO:0071395]; daunorubicin metabolic process [GO:0044597]; doxorubicin metabolic process [GO:0044598]; progesterone metabolic process [GO:0042448]; prostaglandin metabolic process [GO:0006693]; retinoid metabolic process [GO:0001523]; steroid metabolic process [GO:0008202]


uniprotID: Q86WK6
geneSymbol: AMIGO1
name: Amphoterin-induced protein 1 (AMIGO-1) (Alivin-2)
length: 493
go: ENSG00000181754;
sequence:

opentargets:
axon [GO:0030424]; dendrite [GO:0030425]; integral component of membrane [GO:0016021]; neuronal cell body membrane [GO:0032809]; perikaryon [GO:0043204]; voltage-gated potassium channel complex [GO:0008076]; potassium channel regulator activity [GO:0015459]; axonal fasciculation [GO:0007413]; axonogenesis [GO:0007409]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; myelination [GO:0042552]; positive regulation of axonogenesis [GO:0050772]; positive regulation of potassium ion transmembrane transport [GO:1901381]; positive regulation of synapse assembly [GO:0051965]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q80ZD8}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q80ZD8}. Perikaryon {ECO:0000250|UniProtKB:Q80ZD8}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q80ZD8}. Cell projection, axon {ECO:0000250|UniProtKB:Q80ZD7}. Note=Colocalizes with KCNB1 at high-density somatodendritic clusters on the surface of hippocampal and cortical neurons. Associated with axons of neuronal cells. {ECO:0000250|UniProtKB:Q80ZD7, ECO:0000250|UniProtKB:Q80ZD8}.


uniprotID: Q9UHK6
geneSymbol: AMACR
reactome: R-HSA-193368;R-HSA-193775;R-HSA-389887;R-HSA-9033241;
name: Alpha-methylacyl-CoA racemase (EC 5.1.99.4) (2-methylacyl-CoA racemase)
length: 382
go: ENSG00000242110;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; mitochondrion [GO:0005739]; peroxisomal matrix [GO:0005782]; peroxisome [GO:0005777]; plasma membrane [GO:0005886]; alpha-methylacyl-CoA racemase activity [GO:0008111]; signaling receptor binding [GO:0005102]; bile acid biosynthetic process [GO:0006699]; bile acid metabolic process [GO:0008206]; fatty acid beta-oxidation using acyl-CoA oxidase [GO:0033540]; protein targeting to peroxisome [GO:0006625]

snps:
rs3195676 rs121917814 rs121917816 rs16892150 rs10941112 rs2287939 rs9282594 rs34677 rs9282593 rs3195678 rs2278008 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9UHK6-1; Sequence=Displayed; Name=2; Synonyms=IBLi; IsoId=Q9UHK6-2; Sequence=VSP_037321, VSP_037326; 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=Q9UHK6-4; Sequence=VSP_037323, VSP_037324; Name=4; IsoId=Q9UHK6-5; Sequence=VSP_044875; Note=Expression is elevated in prostate cancer.; 

location:
SUBCELLULAR LOCATION: Peroxisome {ECO:0000269|PubMed:11060344}. Mitochondrion {ECO:0000269|PubMed:11060344}.


uniprotID: Q15699
geneSymbol: ALX1
name: ALX homeobox protein 1 (Cartilage homeoprotein 1) (CART-1)
length: 326
go: ENSG00000180318;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:8756334, ECO:0000269|PubMed:9753625}.
sequence:

opentargets:
Golgi apparatus [GO:0005794]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription corepressor activity [GO:0003714]; anterior/posterior pattern specification [GO:0009952]; cartilage condensation [GO:0001502]; embryonic limb morphogenesis [GO:0030326]; embryonic skeletal system morphogenesis [GO:0048704]; multicellular organism development [GO:0007275]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neural crest cell migration [GO:0001755]; neural tube closure [GO:0001843]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; roof of mouth development [GO:0060021]; transcription by RNA polymerase II [GO:0006366]


uniprotID: Q6IWH7
geneSymbol: ANO7
reactome: R-HSA-2672351;
length: 933
go: ENSG00000146205;
snps: rs2302054 rs7590653
name:
Anoctamin-7 (Dresden transmembrane protein of the prostate) (D-TMPP) (IPCA-5) (New gene expressed in prostate) (Prostate cancer-associated protein 5) (Transmembrane protein 16G)

sequence:

opentargets:
cell junction [GO:0030054]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; intracellular calcium activated chloride channel activity [GO:0005229]; phospholipid scramblase activity [GO:0017128]; protein dimerization activity [GO:0046983]; calcium activated galactosylceramide scrambling [GO:0061591]; calcium activated phosphatidylcholine scrambling [GO:0061590]; calcium activated phosphatidylserine scrambling [GO:0061589]; chloride transport [GO:0006821]; ion transmembrane transport [GO:0034220]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=NGEP-L; IsoId=Q6IWH7-1; Sequence=Displayed; Name=2; Synonyms=NGEP-S; IsoId=Q6IWH7-2; Sequence=VSP_026004, VSP_026005, VSP_026006; Name=3; Synonyms=D-TMPP; IsoId=Q6IWH7-3; Sequence=VSP_026004, VSP_026007, VSP_026008; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000269|PubMed:14981236, ECO:0000269|PubMed:17308099, ECO:0000269|PubMed:20056604, ECO:0000269|PubMed:22946059}; Multi-pass membrane protein {ECO:0000255}. Cell junction {ECO:0000269|PubMed:17308099}. Endoplasmic reticulum {ECO:0000269|PubMed:22075693}. Note=Concentrates at sites of cell-cell contact (PubMed:17308099). Shows an intracellular localization according to PubMed:22075693 and PubMed:20056604. {ECO:0000269|PubMed:17308099, ECO:0000269|PubMed:20056604, ECO:0000269|PubMed:22075693}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm, cytosol {ECO:0000269|PubMed:14981236}.


uniprotID: Q8N8V4
geneSymbol: ANKS4B
length: 417
go: ENSG00000175311;
name:
Ankyrin repeat and SAM domain-containing protein 4B (Harmonin-interacting ankyrin repeat-containing protein) (Harp)

sequence:

opentargets:
brush border [GO:0005903]; endoplasmic reticulum membrane [GO:0005789]; microvillus [GO:0005902]; plasma membrane [GO:0005886]; brush border assembly [GO:1904970]; cell differentiation [GO:0030154]; cellular protein-containing complex assembly [GO:0034622]; protein localization to microvillus [GO:1904106]; response to endoplasmic reticulum stress [GO:0034976]

location:
SUBCELLULAR LOCATION: Cell projection, microvillus {ECO:0000269|PubMed:26812018}. Note=Localizes at the tip of microvilli (PubMed:26812018). May associate with endoplasmic reticulum membranes (By similarity). {ECO:0000250|UniProtKB:Q8K3X6, ECO:0000269|PubMed:26812018}.


uniprotID: Q9NXR5
geneSymbol: ANKRD10
name: Ankyrin repeat domain-containing protein 10
length: 420
go: ENSG00000088448;
snps: rs3742185
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NXR5-1; Sequence=Displayed; Name=2; IsoId=Q9NXR5-2; Sequence=VSP_034637, VSP_034638; 


uniprotID: P01008
geneSymbol: SERPINC1
reactome: R-HSA-140837;R-HSA-140875;R-HSA-381426;R-HSA-8957275;
name: Antithrombin-III (ATIII) (Serpin C1)
length: 464
go: ENSG00000117601;
drug: DB11598;DB00407;DB06779;DB01225;DB00569;DB01109;DB04464;DB08813;DB05361;DB06271;DB06822;
location: SUBCELLULAR LOCATION: Secreted, extracellular space.
pdb:
1ANT;1ATH;1AZX;1BR8;1DZG;1DZH;1E03;1E04;1E05;1JVQ;1LK6;1NQ9;1OYH;1R1L;1SR5;1T1F;1TB6;2ANT;2B4X;2B5T;2BEH;2GD4;2HIJ;2ZNH;3EVJ;3KCG;4EB1;

sequence:

opentargets:
blood microparticle [GO:0072562]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; heparin binding [GO:0008201]; identical protein binding [GO:0042802]; protease binding [GO:0002020]; serine-type endopeptidase inhibitor activity [GO:0004867]; acute inflammatory response to antigenic stimulus [GO:0002438]; blood coagulation [GO:0007596]; cellular protein metabolic process [GO:0044267]; lactation [GO:0007595]; negative regulation of endopeptidase activity [GO:0010951]; post-translational protein modification [GO:0043687]; regulation of blood coagulation, intrinsic pathway [GO:2000266]; response to nutrient [GO:0007584]

snps:
rs387906575 rs2227624 rs121909558 rs892712171 rs28929469 rs121909551 rs121909547 rs121909552 rs121909547 rs147266200 rs907768931 rs121909573 rs121909567 rs1411331203 rs1170430756 rs2227606 rs121909569 rs765445413 rs121909563 rs121909570 rs1425532034 rs483352854 rs121909571 rs121909572 rs1423630663 rs758087836 rs121909565 rs201541724 rs121909557 rs121909548 rs121909548 rs121909568 rs121909566 rs121909554 rs121909549 rs121909549 rs121909550 rs121909546 rs1301351856 rs121909555 rs1487411568 rs1188571702 rs121909564 


uniprotID: Q8N6D5
geneSymbol: ANKRD29
name: Ankyrin repeat domain-containing protein 29
length: 301
go: ENSG00000154065;
snps: rs767831283 rs17855552
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N6D5-1; Sequence=Displayed; Name=3; IsoId=Q8N6D5-3; Sequence=VSP_019488; Note=No experimental confirmation available.; 


uniprotID: O94973
geneSymbol: AP2A2
length: 939
go: ENSG00000183020;
reactome:
R-HSA-167590;R-HSA-177504;R-HSA-182218;R-HSA-2132295;R-HSA-3928665;R-HSA-416993;R-HSA-437239;R-HSA-5099900;R-HSA-5140745;R-HSA-6798695;R-HSA-8856825;R-HSA-8856828;R-HSA-8866427;R-HSA-8964038;

name:
AP-2 complex subunit alpha-2 (100 kDa coated vesicle protein C) (Adaptor protein complex AP-2 subunit alpha-2) (Adaptor-related protein complex 2 subunit alpha-2) (Alpha-adaptin C) (Alpha2-adaptin) (Clathrin assembly protein complex 2 alpha-C large chain) (Huntingtin yeast partner J) (Huntingtin-interacting protein 9) (HIP-9) (Huntingtin-interacting protein J) (Plasma membrane adaptor HA2/AP2 adaptin alpha C subunit)

sequence:

opentargets:
AP-2 adaptor complex [GO:0030122]; clathrin-coated endocytic vesicle [GO:0045334]; clathrin-coated endocytic vesicle membrane [GO:0030669]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; endocytic vesicle membrane [GO:0030666]; endolysosome membrane [GO:0036020]; ficolin-1-rich granule membrane [GO:0101003]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; clathrin adaptor activity [GO:0035615]; disordered domain specific binding [GO:0097718]; lipid binding [GO:0008289]; protein kinase binding [GO:0019901]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; clathrin-dependent endocytosis [GO:0072583]; ephrin receptor signaling pathway [GO:0048013]; intracellular protein transport [GO:0006886]; low-density lipoprotein particle clearance [GO:0034383]; low-density lipoprotein particle receptor catabolic process [GO:0032802]; membrane organization [GO:0061024]; neutrophil degranulation [GO:0043312]; regulation of defense response to virus by virus [GO:0050690]; Wnt signaling pathway, planar cell polarity pathway [GO:0060071]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O94973-1; Sequence=Displayed; Name=2; IsoId=O94973-2; Sequence=VSP_035762; Note=No experimental confirmation available.; Name=3; IsoId=O94973-3; Sequence=VSP_035762, VSP_035763, VSP_035764; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:P17427}; Peripheral membrane protein {ECO:0000250|UniProtKB:P17427}; Cytoplasmic side {ECO:0000250|UniProtKB:P17427}. Membrane, coated pit {ECO:0000250|UniProtKB:P17427}; Peripheral membrane protein {ECO:0000250|UniProtKB:P17427}; Cytoplasmic side {ECO:0000250|UniProtKB:P17427}. Note=AP-2 appears to be excluded from internalizing CCVs and to disengage from sites of endocytosis seconds before internalization of the nascent CCV. {ECO:0000250|UniProtKB:P17427}.


uniprotID: P61966
geneSymbol: AP1S1
reactome: R-HSA-164940;R-HSA-2132295;R-HSA-432720;R-HSA-432722;
pdb: 4P6Z;
length: 158
go: ENSG00000106367;
name:
AP-1 complex subunit sigma-1A (Adaptor protein complex AP-1 subunit sigma-1A) (Adaptor-related protein complex 1 subunit sigma-1A) (Clathrin assembly protein complex 1 sigma-1A small chain) (Clathrin coat assembly protein AP19) (Golgi adaptor HA1/AP1 adaptin sigma-1A subunit) (HA1 19 kDa subunit) (Sigma 1a subunit of AP-1 clathrin) (Sigma-adaptin 1A) (Sigma1A-adaptin)

sequence:
MMRFMLLFSRQGKLRLQKWYLATSDKERKKMVRELMQVVLARKPKMCSFLEWRDLKVVYKRYASLYFCCAIEGQDNELITLELIHRYVELLDKYFGSVCELDIIFNFEKAYFILDEFLMGGDVQDTSKKSVLKAIEQADLLQEEDESPRSVLEEMGLA

opentargets:
AP-1 adaptor complex [GO:0030121]; clathrin-coated pit [GO:0005905]; cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; terminal bouton [GO:0043195]; trans-Golgi network membrane [GO:0032588]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; intracellular protein transport [GO:0006886]; receptor-mediated endocytosis [GO:0006898]; regulation of defense response to virus by virus [GO:0050690]; response to virus [GO:0009615]; retrograde transport, endosome to Golgi [GO:0042147]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P61966-1, Q00382-1; Sequence=Displayed; Name=2; IsoId=P61966-2, Q00382-2; Sequence=VSP_000171; 

location:
SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000269|PubMed:9733768}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:9733768}; Peripheral membrane protein {ECO:0000269|PubMed:9733768}; Cytoplasmic side {ECO:0000269|PubMed:9733768}. Membrane, clathrin-coated pit {ECO:0000269|PubMed:9733768}. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex.


uniprotID: Q9H0R1
geneSymbol: AP5M1
length: 490
go: ENSG00000053770;
snps: rs10137359 rs10140245
name:
AP-5 complex subunit mu-1 (Adaptor-related protein complex 5 subunit mu-1) (Mu5) (Mu-2-related death-inducing protein) (MuD) (Putative HIV-1 infection-related protein)

sequence:

opentargets:
AP-type membrane coat adaptor complex [GO:0030119]; cytosol [GO:0005829]; late endosome [GO:0005770]; late endosome membrane [GO:0031902]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; membrane [GO:0016020]; endosomal transport [GO:0016197]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H0R1-1; Sequence=Displayed; Name=2; IsoId=Q9H0R1-2; Sequence=VSP_008407, VSP_008408; Note=May be due to an intron retention.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:22022230}. Late endosome membrane {ECO:0000305|PubMed:22022230}; Peripheral membrane protein {ECO:0000305|PubMed:22022230}; Cytoplasmic side {ECO:0000305|PubMed:22022230}. Lysosome membrane {ECO:0000305|PubMed:22022230}; Peripheral membrane protein {ECO:0000305|PubMed:22022230}; Cytoplasmic side {ECO:0000305|PubMed:22022230}. Note=May cycle on and off membranes.


uniprotID: O60641
geneSymbol: SNAP91
reactome: R-HSA-8856825;R-HSA-8856828;
length: 907
go: ENSG00000065609;
name:
Clathrin coat assembly protein AP180 (91 kDa synaptosomal-associated protein) (Clathrin coat-associated protein AP180) (Phosphoprotein F1-20)

sequence:

opentargets:
clathrin-coated pit [GO:0005905]; clathrin-coated vesicle [GO:0030136]; plasma membrane [GO:0005886]; 1-phosphatidylinositol binding [GO:0005545]; clathrin binding [GO:0030276]; protein kinase binding [GO:0019901]; clathrin coat assembly [GO:0048268]; protein transport [GO:0015031]; regulation of clathrin-dependent endocytosis [GO:2000369]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O60641-1; Sequence=Displayed; Name=2; IsoId=O60641-2; Sequence=VSP_020997; 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=O60641-3; Sequence=VSP_020998, VSP_020999, VSP_021000; Name=4; IsoId=O60641-4; Sequence=VSP_020999, VSP_047049; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}. Membrane, coated pit {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles in the plasma membrane. {ECO:0000250}.


uniprotID: P63010
geneSymbol: AP2B1
pdb: 1E42;2G30;2IV8;2IV9;2JKR;2JKT;2VGL;2XA7;4UQI;5M5R;
length: 937
go: ENSG00000006125;
reactome:
R-HSA-167590;R-HSA-177504;R-HSA-182218;R-HSA-2132295;R-HSA-3928665;R-HSA-416993;R-HSA-437239;R-HSA-5099900;R-HSA-5140745;R-HSA-8856825;R-HSA-8856828;R-HSA-8866427;R-HSA-8964038;

name:
AP-2 complex subunit beta (AP105B) (Adaptor protein complex AP-2 subunit beta) (Adaptor-related protein complex 2 subunit beta) (Beta-2-adaptin) (Beta-adaptin) (Clathrin assembly protein complex 2 beta large chain) (Plasma membrane adaptor HA2/AP2 adaptin beta subunit)

sequence:

opentargets:
AP-2 adaptor complex [GO:0030122]; clathrin-coated endocytic vesicle [GO:0045334]; clathrin-coated endocytic vesicle membrane [GO:0030669]; cytosol [GO:0005829]; endocytic vesicle membrane [GO:0030666]; endolysosome membrane [GO:0036020]; glutamatergic synapse [GO:0098978]; membrane [GO:0016020]; plasma membrane [GO:0005886]; postsynapse [GO:0098794]; presynapse [GO:0098793]; cargo receptor activity [GO:0038024]; clathrin binding [GO:0030276]; protein-containing complex binding [GO:0044877]; signal sequence binding [GO:0005048]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; aorta development [GO:0035904]; clathrin coat assembly [GO:0048268]; clathrin-dependent endocytosis [GO:0072583]; coronary vasculature development [GO:0060976]; ephrin receptor signaling pathway [GO:0048013]; intracellular protein transport [GO:0006886]; low-density lipoprotein particle clearance [GO:0034383]; low-density lipoprotein particle receptor catabolic process [GO:0032802]; membrane organization [GO:0061024]; negative regulation of neuron death [GO:1901215]; positive regulation of endocytosis [GO:0045807]; positive regulation of protein localization to membrane [GO:1905477]; postsynaptic neurotransmitter receptor internalization [GO:0098884]; regulation of defense response to virus by virus [GO:0050690]; synaptic vesicle endocytosis [GO:0048488]; ventricular septum development [GO:0003281]; Wnt signaling pathway, planar cell polarity pathway [GO:0060071]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P63010-1; Sequence=Displayed; Name=2; IsoId=P63010-2; Sequence=VSP_011490; Name=3; Synonyms=Ap2beta-NY; IsoId=P63010-3; Sequence=VSP_047805; Note=Highly expressed in the testis, spleen, thymus, prostate, ovary, blood leukocyte and brain, but not in the heart, placenta, lung, liver, skeletal muscle, kidney and pancreas. Testis expression is restricted to germ cells and is about 3-fold higher in adults than in embryos.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:14530274}. Membrane, coated pit {ECO:0000269|PubMed:14530274}; Peripheral membrane protein {ECO:0000269|PubMed:14530274}; Cytoplasmic side {ECO:0000269|PubMed:14530274}. Note=AP-2 appears to be excluded from internalizing CCVs and to disengage from sites of endocytosis seconds before internalization of the nascent CCV.


uniprotID: Q96N21
geneSymbol: TEPSIN
pdb: 5WF9;5WFB;
length: 525
go: ENSG00000167302;
name:
AP-4 complex accessory subunit Tepsin (ENTH domain-containing protein 2) (Epsin for AP-4) (Tetra-epsin)

sequence:

opentargets:
AP-4 adaptor complex [GO:0030124]; coated vesicle membrane [GO:0030662]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extrinsic component of organelle membrane [GO:0031312]; Golgi apparatus [GO:0005794]; nuclear membrane [GO:0031965]; nuclear speck [GO:0016607]; trans-Golgi network membrane [GO:0032588]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96N21-1; Sequence=Displayed; Name=2; IsoId=Q96N21-2; Sequence=VSP_025141, VSP_025142; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:26542808, ECO:0000269|PubMed:26756312}; Peripheral membrane protein {ECO:0000269|PubMed:26756312}. Cytoplasmic vesicle {ECO:0000269|PubMed:22472443}. Cytoplasm, cytosol {ECO:0000269|PubMed:22472443}. Note=Extensively colocalizes with AP-4 which mediates the recruitment of TEPSIN to the trans-Golgi network. {ECO:0000269|PubMed:22472443, ECO:0000269|PubMed:26542808}.


uniprotID: Q92624
geneSymbol: APPBP2
length: 585
go: ENSG00000062725;
snps: rs34146848
name:
Amyloid protein-binding protein 2 (Amyloid beta precursor protein-binding protein 2) (APP-BP2) (Protein interacting with APP tail 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic vesicle membrane [GO:0030659]; microtubule [GO:0005874]; microtubule associated complex [GO:0005875]; nucleus [GO:0005634]; microtubule motor activity [GO:0003777]; intracellular protein transport [GO:0006886]; intracellular transport [GO:0046907]

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm, cytoskeleton. Membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}. Note=Associated with membranes and microtubules.


uniprotID: Q9UM13
geneSymbol: ANAPC10
pdb: 1JHJ;4UI9;5A31;5G04;5G05;5KHR;5KHU;5L9T;5L9U;5LCW;
name: Anaphase-promoting complex subunit 10 (APC10) (Cyclosome subunit 10)
length: 185
go: ENSG00000164162;
snps: rs35257136
reactome:
R-HSA-141430;R-HSA-174048;R-HSA-174084;R-HSA-174154;R-HSA-174178;R-HSA-174184;R-HSA-176407;R-HSA-176408;R-HSA-176409;R-HSA-176412;R-HSA-179409;R-HSA-2467813;R-HSA-2559582;R-HSA-69017;R-HSA-983168;

sequence:
MTTPNKTPPGADPKQLERTGTVREIGSQAVWSLSSCKPGFGVDQLRDDNLETYWQSDGSQPHLVNIQFRRKTTVKTLCIYADYKSDESYTPSKISVRVGNNFHNLQEIRQLELVEPSGWIHVPLTDNHKKPTRTFMIQIAVLANHQNGRDTHMRQIKIYTPVEESSIGKFPRCTTIDFMMYRSIR

opentargets:
anaphase-promoting complex [GO:0005680]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; anaphase-promoting complex-dependent catabolic process [GO:0031145]; cell cycle [GO:0007049]; cell division [GO:0051301]; protein K11-linked ubiquitination [GO:0070979]


uniprotID: Q9BS18
geneSymbol: ANAPC13
reactome: R-HSA-983168;
pdb: 4UI9;5G04;5KHR;5KHU;5L9T;5L9U;5LCW;
name: Anaphase-promoting complex subunit 13 (APC13) (Cyclosome subunit 13)
sequence: MDSEVQRDGRILDLIDDAWREDKLPYEDVAIPLNELPEPEQDNGGTTESVKEQEMKWTDLALQYLHENVPPIGN
length: 74
go: ENSG00000129055;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
opentargets:
anaphase-promoting complex [GO:0005680]; cell cycle [GO:0007049]; cell division [GO:0051301]; protein K11-linked ubiquitination [GO:0070979]


uniprotID: Q96DE5
geneSymbol: ANAPC16
pdb: 4RG6;4RG9;4UI9;5A31;5G04;5G05;5KHR;5KHU;5L9T;5L9U;5LCW;
name: Anaphase-promoting complex subunit 16 (APC16) (Cyclosome subunit 16)
length: 110
go: ENSG00000166295;
reactome:
R-HSA-141430;R-HSA-174048;R-HSA-174084;R-HSA-174154;R-HSA-174178;R-HSA-174184;R-HSA-176407;R-HSA-176408;R-HSA-176409;R-HSA-176412;R-HSA-179409;R-HSA-2467813;R-HSA-2559582;R-HSA-69017;

sequence:
MAASSSSSSAGGVSGSSVTGSGFSVSDLAPPRKALFTYPKGAGEMLEDGSERFLCESVFSYQVASTLKQVKHDQQVARMEKLAGLVEELEADEWRFKPIEQLLGFTPSSG

opentargets:
anaphase-promoting complex [GO:0005680]; condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; kinetochore [GO:0000776]; nucleoplasm [GO:0005654]; anaphase-promoting complex-dependent catabolic process [GO:0031145]; cell cycle [GO:0007049]; cell division [GO:0051301]; protein ubiquitination [GO:0016567]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20360068}. Nucleus {ECO:0000269|PubMed:20360068}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:20813266}.


uniprotID: P60006
geneSymbol: ANAPC15
pdb: 4UI9;5A31;5G04;5G05;5L9T;5L9U;5LCW;
name: Anaphase-promoting complex subunit 15 (APC15)
length: 121
go: ENSG00000110200;
reactome:
R-HSA-141430;R-HSA-174048;R-HSA-174084;R-HSA-174154;R-HSA-174178;R-HSA-174184;R-HSA-176407;R-HSA-176408;R-HSA-176409;R-HSA-176412;R-HSA-179409;R-HSA-2467813;R-HSA-2559582;R-HSA-69017;

sequence:
MSTLFPSLFPRVTETLWFNLDRPCVEETELQQQEQQHQAWLQSIAEKDNNLVPIGKPASEHYDDEEEEDDEDDEDSEEDSEDDEDMQDMDEMNDYNESPDDGEVNEVDMEGNEQDQDQWMI

opentargets:
anaphase-promoting complex [GO:0005680]; cytosol [GO:0005829]; intracellular [GO:0005622]; nucleoplasm [GO:0005654]; anaphase-promoting complex-dependent catabolic process [GO:0031145]; cell cycle [GO:0007049]; cell division [GO:0051301]; regulation of mitotic cell cycle spindle assembly checkpoint [GO:0090266]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P60006-1; Sequence=Displayed; Name=2; IsoId=P60006-2; Sequence=VSP_055048; Note=No experimental confimation available.; 


uniprotID: Q9UJX5
geneSymbol: ANAPC4
pdb: 4UI9;5A31;5BPW;5G04;5G05;5KHR;5KHU;5L9T;5L9U;5LCW;
name: Anaphase-promoting complex subunit 4 (APC4) (Cyclosome subunit 4)
length: 808
go: ENSG00000053900;
snps: rs34811474 rs11550697
reactome:
R-HSA-141430;R-HSA-174048;R-HSA-174084;R-HSA-174154;R-HSA-174178;R-HSA-174184;R-HSA-176407;R-HSA-176408;R-HSA-176409;R-HSA-176412;R-HSA-179409;R-HSA-2467813;R-HSA-2559582;R-HSA-69017;R-HSA-983168;

sequence:

opentargets:
anaphase-promoting complex [GO:0005680]; cytosol [GO:0005829]; nuclear periphery [GO:0034399]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein phosphatase binding [GO:0019903]; ubiquitin-protein transferase activity [GO:0004842]; anaphase-promoting complex-dependent catabolic process [GO:0031145]; cell cycle [GO:0007049]; cell division [GO:0051301]; positive regulation of mitotic metaphase/anaphase transition [GO:0045842]; protein K11-linked ubiquitination [GO:0070979]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UJX5-1; Sequence=Displayed; Name=2; IsoId=Q9UJX5-2; Sequence=VSP_008464, VSP_008465; Note=No experimental confirmation available.; Name=3; IsoId=Q9UJX5-3; Sequence=VSP_056708; Note=No experimental confirmation available.; 


uniprotID: O95996
geneSymbol: APC2
name: Adenomatous polyposis coli protein 2 (Adenomatous polyposis coli protein-like) (APC-like)
length: 2303
go: ENSG00000115266;
snps: rs1288757495 rs265277
sequence:

opentargets:
actin filament [GO:0005884]; beta-catenin destruction complex [GO:0030877]; catenin complex [GO:0016342]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; intercellular bridge [GO:0045171]; lamellipodium membrane [GO:0031258]; microtubule [GO:0005874]; microtubule cytoskeleton [GO:0015630]; midbody [GO:0030496]; perinuclear region of cytoplasm [GO:0048471]; postsynapse [GO:0098794]; beta-catenin binding [GO:0008013]; gamma-catenin binding [GO:0045295]; microtubule binding [GO:0008017]; activation of GTPase activity [GO:0090630]; cell fate specification [GO:0001708]; cell migration [GO:0016477]; microtubule cytoskeleton organization [GO:0000226]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of microtubule depolymerization [GO:0007026]; pattern specification process [GO:0007389]; positive regulation of protein catabolic process [GO:0045732]; regulation of cell differentiation [GO:0045595]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O95996-1; Sequence=Displayed; Name=2; IsoId=O95996-2; Sequence=VSP_030106; Name=3; IsoId=O95996-3; Sequence=VSP_030107; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:10644998, ECO:0000269|PubMed:11691822, ECO:0000269|PubMed:25753423}. Golgi apparatus {ECO:0000269|PubMed:11691822}. Cytoplasm {ECO:0000269|PubMed:11691822}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:10646860}. Note=Associated with actin filaments (PubMed:11691822, PubMed:25753423). Associated with microtubule network (PubMed:10644998, PubMed:11691822, PubMed:25753423). {ECO:0000269|PubMed:10644998, ECO:0000269|PubMed:11691822, ECO:0000269|PubMed:25753423}.


uniprotID: P27695
geneSymbol: APEX1
reactome: R-HSA-110357;R-HSA-110362;R-HSA-110373;R-HSA-5651801;R-HSA-73930;R-HSA-73933;
length: 318
go: ENSG00000100823;
drug: DB04967;
snps: rs1048945 rs2307486 rs1130409
pdb:
1BIX;1CQG;1CQH;1DE8;1DE9;1DEW;1E9N;1HD7;2ISI;2O3H;3U8U;4IEM;4LND;4QH9;4QHD;4QHE;5CFG;5DFF;5DFH;5DFI;5DFJ;5DG0;5WN0;5WN1;5WN2;5WN3;5WN4;5WN5;6BOQ;6BOR;6BOS;6BOT;6BOU;6BOV;6BOW;

name:
DNA-(apurinic or apyrimidinic site) lyase (EC 3.1.-.-) (EC 4.2.99.18) (APEX nuclease) (APEN) (Apurinic-apyrimidinic endonuclease 1) (AP endonuclease 1) (APE-1) (REF-1) (Redox factor-1) [Cleaved into: DNA-(apurinic or apyrimidinic site) lyase, mitochondrial]

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; mitochondrion [GO:0005739]; nuclear chromosome, telomeric region [GO:0000784]; nuclear speck [GO:0016607]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; ribosome [GO:0005840]; transcription factor complex [GO:0005667]; 3'-5' exonuclease activity [GO:0008408]; chromatin DNA binding [GO:0031490]; class I DNA-(apurinic or apyrimidinic site) endonuclease activity [GO:0140078]; damaged DNA binding [GO:0003684]; DNA binding [GO:0003677]; DNA-(apurinic or apyrimidinic site) endonuclease activity [GO:0003906]; double-stranded DNA 3'-5' exodeoxyribonuclease activity [GO:0008311]; double-stranded DNA exodeoxyribonuclease activity [GO:0008309]; double-stranded telomeric DNA binding [GO:0003691]; endodeoxyribonuclease activity [GO:0004520]; endonuclease activity [GO:0004519]; metal ion binding [GO:0046872]; NF-kappaB binding [GO:0051059]; oxidoreductase activity [GO:0016491]; phosphodiesterase I activity [GO:0004528]; phosphoric diester hydrolase activity [GO:0008081]; protein-containing complex binding [GO:0044877]; RNA binding [GO:0003723]; RNA-DNA hybrid ribonuclease activity [GO:0004523]; site-specific endodeoxyribonuclease activity, specific for altered base [GO:0016890]; transcription coactivator activity [GO:0003713]; transcription corepressor activity [GO:0003714]; uracil DNA N-glycosylase activity [GO:0004844]; aging [GO:0007568]; base-excision repair [GO:0006284]; base-excision repair, base-free sugar-phosphate removal [GO:0006286]; cell redox homeostasis [GO:0045454]; cellular response to cAMP [GO:0071320]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to peptide hormone stimulus [GO:0071375]; DNA demethylation [GO:0080111]; DNA recombination [GO:0006310]; DNA repair [GO:0006281]; negative regulation of smooth muscle cell migration [GO:0014912]; positive regulation of G1/S transition of mitotic cell cycle [GO:1900087]; regulation of apoptotic process [GO:0042981]; regulation of mRNA stability [GO:0043488]; telomere maintenance [GO:0000723]; telomere maintenance via base-excision repair [GO:0097698]

location:
SUBCELLULAR LOCATION: Nucleus. Nucleus, nucleolus. Nucleus speckle. Endoplasmic reticulum. Cytoplasm. Note=Detected in the cytoplasm of B-cells stimulated to switch (By similarity). Colocalized with SIRT1 in the nucleus. Colocalized with YBX1 in nuclear speckles after genotoxic stress. Together with OGG1 is recruited to nuclear speckles in UVA-irradiated cells. Colocalized with nucleolin and NPM1 in the nucleolus. Its nucleolar localization is cell cycle dependent and requires active rRNA transcription. Colocalized with calreticulin in the endoplasmic reticulum. Translocation from the nucleus to the cytoplasm is stimulated in presence of nitric oxide (NO) and function in a CRM1-dependent manner, possibly as a consequence of demasking a nuclear export signal (amino acid position 64-80). S-nitrosylation at Cys-93 and Cys-310 regulates its nuclear-cytosolic shuttling. Ubiquitinated form is localized predominantly in the cytoplasm. {ECO:0000250}.; SUBCELLULAR LOCATION: DNA-(apurinic or apyrimidinic site) lyase, mitochondrial: Mitochondrion. Note=The cleaved APEX2 is only detected in mitochondria (By similarity). Translocation from the cytoplasm to the mitochondria is mediated by ROS signaling and cleavage mediated by granzyme A. Tom20-dependent translocated mitochondrial APEX1 level is significantly increased after genotoxic stress. {ECO:0000250}.


uniprotID: Q9UBZ4
geneSymbol: APEX2
length: 518
go: ENSG00000169188;
snps: rs2301416 rs2301416 rs145122391 rs201964062
name:
DNA-(apurinic or apyrimidinic site) lyase 2 (EC 3.1.-.-) (EC 4.2.99.18) (AP endonuclease XTH2) (APEX nuclease 2) (APEX nuclease-like 2) (Apurinic-apyrimidinic endonuclease 2) (AP endonuclease 2)

sequence:

opentargets:
fibrillar center [GO:0001650]; intracellular membrane-bounded organelle [GO:0043231]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; class I DNA-(apurinic or apyrimidinic site) endonuclease activity [GO:0140078]; DNA binding [GO:0003677]; DNA-(apurinic or apyrimidinic site) endonuclease activity [GO:0003906]; double-stranded DNA 3'-5' exodeoxyribonuclease activity [GO:0008311]; endonuclease activity [GO:0004519]; phosphodiesterase I activity [GO:0004528]; zinc ion binding [GO:0008270]; base-excision repair [GO:0006284]; cell cycle [GO:0007049]; DNA recombination [GO:0006310]

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Mitochondrion {ECO:0000305}. Note=Together with PCNA, is redistributed in discrete nuclear foci in presence of oxidative DNA damaging agents.


uniprotID: Q6NS38
geneSymbol: ALKBH2
reactome: R-HSA-112122;
pdb: 3BTX;3BTY;3BTZ;3BU0;3BUC;3H8O;3H8R;3H8X;3RZG;3RZH;3RZJ;3RZK;3RZL;3RZM;3S57;3S5A;4MG2;4MGT;
length: 261
go: ENSG00000189046;
drug: DB00126;
snps: rs33962311
name:
DNA oxidative demethylase ALKBH2 (EC 1.14.11.33) (Alkylated DNA repair protein alkB homolog 2) (Alpha-ketoglutarate-dependent dioxygenase alkB homolog 2) (Oxy DC1)

sequence:

opentargets:
microtubule cytoskeleton [GO:0015630]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; 1-ethyladenine demethylase activity [GO:0103053]; cytosine C-5 DNA demethylase activity [GO:0051747]; DNA-N1-methyladenine dioxygenase activity [GO:0043734]; ferrous iron binding [GO:0008198]; DNA dealkylation involved in DNA repair [GO:0006307]; DNA demethylation [GO:0080111]; oxidative demethylation [GO:0070989]; oxidative DNA demethylation [GO:0035511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6NS38-1; Sequence=Displayed; Name=2; IsoId=Q6NS38-2; Sequence=VSP_042923; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12486230, ECO:0000269|PubMed:12594517}. Note=Detected in replication foci during S-phase.


uniprotID: Q96BT7
geneSymbol: ALKBH8
reactome: R-HSA-6782315;
pdb: 2CQ2;3THP;3THT;
length: 664
go: ENSG00000137760;
name:
Alkylated DNA repair protein alkB homolog 8 (EC 1.14.11.-) (Probable alpha-ketoglutarate-dependent dioxygenase ABH8) (S-adenosyl-L-methionine-dependent tRNA methyltransferase ABH8) (tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ABH8) (EC 2.1.1.229)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; iron ion binding [GO:0005506]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors [GO:0016706]; tRNA (uracil) methyltransferase activity [GO:0016300]; tRNA binding [GO:0000049]; zinc ion binding [GO:0008270]; cellular response to DNA damage stimulus [GO:0006974]; oxidation-reduction process [GO:0055114]; tRNA methylation [GO:0030488]; tRNA wobble uridine modification [GO:0002098]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96BT7-1; Sequence=Displayed; Name=2; IsoId=Q96BT7-2; Sequence=VSP_033927, VSP_033928; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=Q96BT7-3; Sequence=VSP_033925, VSP_033926; Note=No experimental confirmation available.; Name=4; IsoId=Q96BT7-4; Sequence=VSP_039159; Note=May be due to competing donor splice site. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17979886, ECO:0000269|PubMed:20308323}. Nucleus {ECO:0000269|PubMed:20308323}. Note=Predominantly cytoplasmic. {ECO:0000269|PubMed:20308323}.


uniprotID: O95076
geneSymbol: ALX3
name: Homeobox protein aristaless-like 3 (Proline-rich transcription factor ALX3)
length: 343
go: ENSG00000156150;
snps: rs121908167 rs121908168 rs121908170 rs121908166 rs12749726
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; embryonic cranial skeleton morphogenesis [GO:0048701]; embryonic forelimb morphogenesis [GO:0035115]; embryonic hindlimb morphogenesis [GO:0035116]; pattern specification process [GO:0007389]; regulation of apoptotic process [GO:0042981]


uniprotID: P01160
geneSymbol: NPPA
reactome: R-HSA-2032785;R-HSA-5578768;R-HSA-977225;
pdb: 1ANP;1YK0;3N57;
length: 153
snps: rs5063
location: SUBCELLULAR LOCATION: Secreted.
name:
Natriuretic peptides A (CDD-ANF) (Cardiodilatin) (CDD) (Cardiodilatin-related peptide) (CDP) (Prepronatriodilatin) [Cleaved into: Atrial natriuretic factor (ANF) (Atrial natriuretic peptide) (ANP)]

sequence:
MSSFSTTTVSFLLLLAFQLLGQTRANPMYNAVSNADLMDFKNLLDHLEEKMPLEDEVVPPQVLSEPNEEAGAALSPLPEVPPWTGEVSPAQRDGGALGRGPWDSSDRSALLKSKLRALLTAPRSLRRSSCFGGRMDRIGAQSGLGCNSFRYRR

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; mast cell granule [GO:0042629]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; protein-containing complex [GO:0032991]; hormone receptor binding [GO:0051427]; neuropeptide hormone activity [GO:0005184]; neuropeptide receptor binding [GO:0071855]; signaling receptor binding [GO:0005102]; cardiac muscle hypertrophy in response to stress [GO:0014898]; cell growth involved in cardiac muscle cell development [GO:0061049]; cellular protein metabolic process [GO:0044267]; cellular response to mechanical stimulus [GO:0071260]; cGMP biosynthetic process [GO:0006182]; cGMP-mediated signaling [GO:0019934]; female pregnancy [GO:0007565]; negative regulation of cell growth [GO:0030308]; negative regulation of collecting lymphatic vessel constriction [GO:1903815]; negative regulation of systemic arterial blood pressure [GO:0003085]; neuropeptide signaling pathway [GO:0007218]; positive regulation of cardiac muscle contraction [GO:0060452]; positive regulation of cGMP-mediated signaling [GO:0010753]; positive regulation of delayed rectifier potassium channel activity [GO:1902261]; positive regulation of heart rate [GO:0010460]; positive regulation of histamine secretion by mast cell [GO:1903595]; positive regulation of potassium ion export across plasma membrane [GO:1903766]; protein folding [GO:0006457]; receptor guanylyl cyclase signaling pathway [GO:0007168]; regulation of atrial cardiac muscle cell membrane repolarization [GO:0060372]; regulation of blood pressure [GO:0008217]; regulation of blood vessel size [GO:0050880]; regulation of calcium ion transmembrane transport via high voltage-gated calcium channel [GO:1902514]; regulation of cardiac conduction [GO:1903779]; regulation of high voltage-gated calcium channel activity [GO:1901841]; response to hypoxia [GO:0001666]; response to insulin [GO:0032868]; response to muscle stretch [GO:0035994]; transcription initiation from RNA polymerase II promoter [GO:0006367]


uniprotID: Q9Y2G4
geneSymbol: ANKRD6
name: Ankyrin repeat domain-containing protein 6 (Diversin)
length: 727
go: ENSG00000135299;
snps: rs16881983 rs3748085 rs2273238 rs9362667 rs9362667
sequence:

opentargets:
cytoplasm [GO:0005737]; intracellular membrane-bounded organelle [GO:0043231]; nucleus [GO:0005634]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; positive regulation of Wnt signaling pathway, planar cell polarity pathway [GO:2000096]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9Y2G4-2; Sequence=Displayed; Name=2; IsoId=Q9Y2G4-1; Sequence=VSP_000270; Name=3; IsoId=Q9Y2G4-3; Sequence=VSP_031591; Note=No experimental confirmation available.; Name=4; IsoId=Q9Y2G4-4; Sequence=VSP_043189, VSP_043190, VSP_031591; 


uniprotID: Q8NI99
geneSymbol: ANGPTL6
length: 470
go: ENSG00000130812;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Angiopoietin-related protein 6 (Angiopoietin-like protein 6) (Angiopoietin-related growth factor) (Angiopoietin-related protein 5)

sequence:

opentargets:
extracellular exosome [GO:0070062]; secretory granule [GO:0030141]; angiogenesis [GO:0001525]; cell differentiation [GO:0030154]


uniprotID: Q9BYT9
geneSymbol: ANO3
reactome: R-HSA-2672351;
name: Anoctamin-3 (Transmembrane protein 16C)
length: 981
go: ENSG00000134343;
snps: rs587776922 rs587776923 rs11825056
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; intracellular calcium activated chloride channel activity [GO:0005229]; phospholipid scramblase activity [GO:0017128]; protein dimerization activity [GO:0046983]; calcium activated galactosylceramide scrambling [GO:0061591]; calcium activated phosphatidylcholine scrambling [GO:0061590]; detection of mechanical stimulus [GO:0050982]; detection of temperature stimulus [GO:0016048]; ion transmembrane transport [GO:0034220]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BYT9-1; Sequence=Displayed; Name=2; IsoId=Q9BYT9-2; Sequence=VSP_056893; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Note=Shows an intracellular localization. {ECO:0000250}.


uniprotID: Q9ULJ7
geneSymbol: ANKRD50
name: Ankyrin repeat domain-containing protein 50
length: 1429
go: ENSG00000151458;
location: SUBCELLULAR LOCATION: Endosome {ECO:0000305}.
sequence:

opentargets:
endosome [GO:0005768]; protein transport [GO:0015031]; retrograde transport, endosome to plasma membrane [GO:1990126]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9ULJ7-1; Sequence=Displayed; Name=2; IsoId=Q9ULJ7-2; Sequence=VSP_045459; Note=No experimental confirmation available.; 


uniprotID: Q6NXT1
geneSymbol: ANKRD54
name: Ankyrin repeat domain-containing protein 54 (Lyn-interacting ankyrin repeat protein)
length: 300
go: ENSG00000100124;
sequence:

opentargets:
cytoplasm [GO:0005737]; midbody [GO:0030496]; nucleus [GO:0005634]; protein kinase regulator activity [GO:0019887]; protein-containing complex binding [GO:0044877]; nucleocytoplasmic transport [GO:0006913]; positive regulation of erythrocyte differentiation [GO:0045648]; regulation of intracellular signal transduction [GO:1902531]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6NXT1-1; Sequence=Displayed; Name=2; IsoId=Q6NXT1-2; Sequence=VSP_022770, VSP_022771; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Cytoplasm {ECO:0000250}. Midbody {ECO:0000250}. Note=Shuttles between nucleus and cytoplasm during the cell cycle. EPO stimulation induces nuclear accumulation (By similarity). {ECO:0000250}.


uniprotID: A6NC57
geneSymbol: ANKRD62
name: Ankyrin repeat domain-containing protein 62
length: 917
snps: rs1986751 rs6505715 rs4519391 rs7243248
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A6NC57-1; Sequence=Displayed; Name=2; IsoId=A6NC57-2; Sequence=VSP_032799; Note=No experimental confirmation available.; 


uniprotID: E5RJM6
geneSymbol: ANKRD65
name: Ankyrin repeat domain-containing protein 65
length: 399
go: ENSG00000235098;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=E5RJM6-1; Sequence=Displayed; Name=2; IsoId=E5RJM6-2; Sequence=VSP_042085, VSP_042086; Name=3; IsoId=E5RJM6-3; Sequence=VSP_045962, VSP_045963; Note=No experimental confirmation available.; 


uniprotID: P21397
geneSymbol: MAOA
reactome: R-HSA-141333;R-HSA-181430;R-HSA-379397;R-HSA-379398;R-HSA-380612;R-HSA-5579012;R-HSA-6785807;
pdb: 1H8Q;2BXR;2BXS;2Z5X;2Z5Y;
name: Amine oxidase [flavin-containing] A (EC 1.4.3.4) (Monoamine oxidase type A) (MAO-A)
length: 527
go: ENSG00000189221;
snps: rs77698881 rs587777457 rs1799835 rs1800466
sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; primary amine oxidase activity [GO:0008131]; cellular biogenic amine metabolic process [GO:0006576]; cytokine-mediated signaling pathway [GO:0019221]; dopamine catabolic process [GO:0042420]; neurotransmitter catabolic process [GO:0042135]; neurotransmitter metabolic process [GO:0042133]

drug:
DB01472;DB07919;DB00918;DB00182;DB01445;DB06774;DB05205;DB07641;DB00988;DB01363;DB03147;DB00614;DB01247;DB00601;DB01577;DB00805;DB01442;DB01171;DB08804;DB00952;DB04820;DB00184;DB04821;DB06412;DB01626;DB00780;DB00191;DB00388;DB00397;DB04850;DB00721;DB01168;DB00852;DB00140;DB00953;DB06654;DB01037;DB01104;DB00669;DB00624;DB00752;DB04832;DB00315;DB00909;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P21397-1; Sequence=Displayed; Name=2; IsoId=P21397-2; Sequence=VSP_045173; 

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane; Single-pass type IV membrane protein; Cytoplasmic side.


uniprotID: Q63HQ0
geneSymbol: AP1AR
length: 302
go: ENSG00000138660;
snps: rs34900583
name:
AP-1 complex-associated regulatory protein (2c18) (Adaptor-related protein complex 1-associated regulatory protein) (Gamma-1-adaptin brefeldin A resistance protein) (GBAR) (Gamma-BAR) (Gamma-A1-adaptin and kinesin interactor) (Gadkin)

sequence:

opentargets:
cytosol [GO:0005829]; early endosome [GO:0005769]; endosome [GO:0005768]; Golgi apparatus [GO:0005794]; late endosome [GO:0005770]; transport vesicle [GO:0030133]; AP-1 adaptor complex binding [GO:0035650]; kinesin binding [GO:0019894]; cellular protein localization [GO:0034613]; negative regulation of cell motility [GO:2000146]; negative regulation of receptor recycling [GO:0001920]; negative regulation of substrate adhesion-dependent cell spreading [GO:1900025]; protein transport [GO:0015031]; regulation of Arp2/3 complex-mediated actin nucleation [GO:0034315]; vesicle targeting, trans-Golgi to endosome [GO:0048203]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q63HQ0-1; Sequence=Displayed; Name=2; IsoId=Q63HQ0-2; Sequence=VSP_015339; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network. Late endosome. Early endosome. Note=Localizes to the juxta-nuclear Golgi region and to tubular structures throughout the cytoplasm, which are highly mobile and cycle between the juxta-nuclear area and the cell periphery.


uniprotID: P50995
geneSymbol: ANXA11
length: 505
go: ENSG00000122359;
snps: rs142083484 rs754594235 rs569546089 rs2229554 rs1049550 rs765489119 rs1802932
name:
Annexin A11 (56 kDa autoantigen) (Annexin XI) (Annexin-11) (Calcyclin-associated annexin 50) (CAP-50)

sequence:

opentargets:
azurophil granule [GO:0042582]; collagen-containing extracellular matrix [GO:0062023]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; melanosome [GO:0042470]; membrane [GO:0016020]; midbody [GO:0030496]; nuclear envelope [GO:0005635]; nucleoplasm [GO:0005654]; phagocytic vesicle [GO:0045335]; specific granule [GO:0042581]; spindle [GO:0005819]; calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; calcium-dependent protein binding [GO:0048306]; MHC class II protein complex binding [GO:0023026]; phosphatidylethanolamine binding [GO:0008429]; RNA binding [GO:0003723]; S100 protein binding [GO:0044548]; cytokinetic process [GO:0032506]; phagocytosis [GO:0006909]; response to calcium ion [GO:0051592]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P50995-1; Sequence=Displayed; Name=2; IsoId=P50995-2; Sequence=VSP_054553; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:28469040}. Melanosome. Nucleus envelope. Nucleus, nucleoplasm {ECO:0000269|PubMed:28469040}. Cytoplasm, cytoskeleton, spindle. Note=Found throughout the nucleoplasm at interphase and during mitosis concentrates around the mitotic apparatus (By similarity). Elevation of intracellular calcium causes relocalization from the nucleoplasm to the nuclear envelope, with little effect on the cytoplasmic pool. Localization to the nuclear envelope is cell-cycle dependent. {ECO:0000250}.


uniprotID: P28039
geneSymbol: AOAH
pdb: 5W78;5W7C;
length: 575
go: ENSG00000136250;
snps: rs2228410 rs3735384 rs3735386
name:
Acyloxyacyl hydrolase (EC 3.1.1.77) [Cleaved into: Acyloxyacyl hydrolase small subunit; Acyloxyacyl hydrolase large subunit]

sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; extracellular region [GO:0005576]; acyloxyacyl hydrolase activity [GO:0050528]; calcium ion binding [GO:0005509]; fatty acid metabolic process [GO:0006631]; lipopolysaccharide catabolic process [GO:0009104]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P28039-1; Sequence=Displayed; Name=2; IsoId=P28039-2; Sequence=VSP_042571; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:8089145, ECO:0000305|PubMed:1883828}. Cytoplasmic vesicle {ECO:0000269|PubMed:8089145}. Note=Detected in urine. {ECO:0000250|UniProtKB:O35298}.


uniprotID: P19801
geneSymbol: AOC1
reactome: R-HSA-211945;R-HSA-6798695;
pdb: 3HI7;3HIG;3HII;3K5T;3MPH;
length: 751
go: ENSG00000002726;
drug: DB00594;DB03608;
snps: rs10156191 rs1049742 rs45558339 rs1049793 rs35070995
location: SUBCELLULAR LOCATION: Secreted, extracellular space.
name:
Amiloride-sensitive amine oxidase [copper-containing] (DAO) (Diamine oxidase) (EC 1.4.3.22) (Amiloride-binding protein 1) (Amine oxidase copper domain-containing protein 1) (Histaminase) (Kidney amine oxidase) (KAO)

sequence:

opentargets:
bicellular tight junction [GO:0005923]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; peroxisome [GO:0005777]; plasma membrane [GO:0005886]; specific granule lumen [GO:0035580]; calcium ion binding [GO:0005509]; copper ion binding [GO:0005507]; diamine oxidase activity [GO:0052597]; drug binding [GO:0008144]; heparin binding [GO:0008201]; histamine oxidase activity [GO:0052598]; methylputrescine oxidase activity [GO:0052599]; primary amine oxidase activity [GO:0008131]; propane-1,3-diamine oxidase activity [GO:0052600]; protein homodimerization activity [GO:0042803]; protein-containing complex binding [GO:0044877]; quinone binding [GO:0048038]; zinc ion binding [GO:0008270]; amine metabolic process [GO:0009308]; cellular response to azide [GO:0097185]; cellular response to copper ion [GO:0071280]; cellular response to copper ion starvation [GO:0035874]; cellular response to heparin [GO:0071504]; cellular response to histamine [GO:0071420]; neutrophil degranulation [GO:0043312]; oxidation-reduction process [GO:0055114]; response to antibiotic [GO:0046677]; response to drug [GO:0042493]; xenobiotic metabolic process [GO:0006805]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P19801-1; Sequence=Displayed; Name=2; Synonyms=DAO2; IsoId=P19801-2; Sequence=VSP_055190; 


uniprotID: Q9Y6Q5
geneSymbol: AP1M2
reactome: R-HSA-164940;R-HSA-2132295;R-HSA-432720;R-HSA-432722;
length: 423
go: ENSG00000129354;
name:
AP-1 complex subunit mu-2 (AP-mu chain family member mu1B) (Adaptor protein complex AP-1 subunit mu-2) (Adaptor-related protein complex 1 subunit mu-2) (Clathrin assembly protein complex 1 mu-2 medium chain 2) (Golgi adaptor HA1/AP1 adaptin mu-2 subunit) (Mu-adaptin 2) (Mu1B-adaptin)

sequence:

opentargets:
clathrin adaptor complex [GO:0030131]; clathrin-coated vesicle membrane [GO:0030665]; cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; Golgi membrane [GO:0000139]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal membrane [GO:0005765]; trans-Golgi network membrane [GO:0032588]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; protein targeting [GO:0006605]; regulation of defense response to virus by virus [GO:0050690]; vesicle targeting [GO:0006903]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y6Q5-1; Sequence=Displayed; Name=2; IsoId=Q9Y6Q5-2; Sequence=VSP_000169; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus. Cytoplasmic vesicle, clathrin-coated vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex.


uniprotID: P07355
geneSymbol: ANXA2
reactome: R-HSA-445355;R-HSA-6798695;R-HSA-75205;R-HSA-8950505;
pdb: 1W7B;1XJL;2HYU;2HYV;2HYW;4DRW;4FTG;4HRH;5LPU;5LPX;5LQ0;5LQ2;5N7D;5N7F;5N7G;
length: 339
go: ENSG00000182718;
drug: DB00031;
snps: rs17845226
name:
Annexin A2 (Annexin II) (Annexin-2) (Calpactin I heavy chain) (Calpactin-1 heavy chain) (Chromobindin-8) (Lipocortin II) (Placental anticoagulant protein IV) (PAP-IV) (Protein I) (p36)

sequence:

opentargets:
azurophil granule lumen [GO:0035578]; basement membrane [GO:0005604]; basolateral plasma membrane [GO:0016323]; cell cortex [GO:0005938]; cell surface [GO:0009986]; cell-cell adherens junction [GO:0005913]; collagen-containing extracellular matrix [GO:0062023]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; early endosome [GO:0005769]; endosome [GO:0005768]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extrinsic component of plasma membrane [GO:0019897]; late endosome membrane [GO:0031902]; lipid droplet [GO:0005811]; lysosomal membrane [GO:0005765]; macropinosome [GO:0044354]; melanosome [GO:0042470]; membrane [GO:0016020]; membrane raft [GO:0045121]; midbody [GO:0030496]; myelin sheath adaxonal region [GO:0035749]; nucleus [GO:0005634]; PCSK9-AnxA2 complex [GO:1990667]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; ruffle [GO:0001726]; sarcolemma [GO:0042383]; Schmidt-Lanterman incisure [GO:0043220]; vesicle [GO:0031982]; bone sialoprotein binding [GO:0044730]; cadherin binding involved in cell-cell adhesion [GO:0098641]; calcium channel activity [GO:0005262]; calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; calcium-dependent protein binding [GO:0048306]; cytoskeletal protein binding [GO:0008092]; identical protein binding [GO:0042802]; molecular function regulator [GO:0098772]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; phosphatidylserine binding [GO:0001786]; phospholipase A2 inhibitor activity [GO:0019834]; protease binding [GO:0002020]; Rab GTPase binding [GO:0017137]; RNA binding [GO:0003723]; S100 protein binding [GO:0044548]; virion binding [GO:0046790]; voltage-gated calcium channel activity involved in regulation of cytosolic calcium levels [GO:0099511]; angiogenesis [GO:0001525]; biomineral tissue development [GO:0031214]; body fluid secretion [GO:0007589]; catabolism by host of symbiont protein [GO:0052362]; collagen fibril organization [GO:0030199]; endocardial cell differentiation [GO:0060956]; fibrinolysis [GO:0042730]; growth plate cartilage development [GO:0003417]; interleukin-12-mediated signaling pathway [GO:0035722]; membrane raft assembly [GO:0001765]; negative regulation by host of symbiont molecular function [GO:0052405]; negative regulation of development of symbiont involved in interaction with host [GO:0044147]; negative regulation of low-density lipoprotein particle receptor catabolic process [GO:0032804]; neutrophil degranulation [GO:0043312]; osteoclast development [GO:0036035]; positive regulation by host of viral process [GO:0044794]; positive regulation of calcium ion transport [GO:0051928]; positive regulation of chondrocyte differentiation [GO:0032332]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of low-density lipoprotein particle clearance [GO:1905581]; positive regulation of low-density lipoprotein particle receptor binding [GO:1905597]; positive regulation of low-density lipoprotein receptor activity [GO:1905599]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of receptor recycling [GO:0001921]; positive regulation of receptor-mediated endocytosis involved in cholesterol transport [GO:1905602]; positive regulation of vacuole organization [GO:0044090]; positive regulation of vesicle fusion [GO:0031340]; positive regulation of viral life cycle [GO:1903902]; protein heterotetramerization [GO:0051290]; protein localization to plasma membrane [GO:0072659]; regulation of plasminogen activation [GO:0010755]; response to thyroid hormone [GO:0097066]; vesicle budding from membrane [GO:0006900]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P07355-1; Sequence=Displayed; Name=2; IsoId=P07355-2; Sequence=VSP_038091; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane {ECO:0000269|PubMed:17081065}. Melanosome {ECO:0000269|PubMed:17081065}. Note=In the lamina beneath the plasma membrane. Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Translocated from the cytoplasm to the cell surface through a Golgi-independent mechanism.


uniprotID: P50583
geneSymbol: NUDT2
reactome: R-HSA-3299685;
pdb: 1XSA;1XSB;1XSC;3U53;4ICK;4IJX;
length: 147
go: ENSG00000164978;
name:
Bis(5'-nucleosyl)-tetraphosphatase [asymmetrical] (EC 3.6.1.17) (Diadenosine 5',5'''-P1,P4-tetraphosphate asymmetrical hydrolase) (Ap4A hydrolase) (Ap4Aase) (Diadenosine tetraphosphatase) (Nucleoside diphosphate-linked moiety X motif 2) (Nudix motif 2)

sequence:
MALRACGLIIFRRCLIPKVDNNAIEFLLLQASDGIHHWTPPKGHVEPGEDDLETALRETQEEAGIEAGQLTIIEGFKRELNYVARNKPKTVIYWLAEVKDYDVEIRLSHEHQAYRWLGLEEACQLAQFKEMKAALQEGHQFLCSIEA

opentargets:
mitochondrial matrix [GO:0005759]; bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity [GO:0004081]; bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity [GO:0008803]; GTP binding [GO:0005525]; apoptotic process [GO:0006915]; cellular response to oxidative stress [GO:0034599]; nucleobase-containing compound metabolic process [GO:0006139]


uniprotID: Q9Y587
geneSymbol: AP4S1
reactome: R-HSA-432720;
length: 144
go: ENSG00000100478;
name:
AP-4 complex subunit sigma-1 (AP-4 adaptor complex subunit sigma-1) (Adaptor-related protein complex 4 subunit sigma-1) (Sigma-1 subunit of AP-4) (Sigma-4-adaptin) (Sigma4-adaptin)

sequence:
MIKFFLMVNKQGQTRLSKYYEHVDINKRTLLETEVIKSCLSRSNEQCSFIEYKDFKLIYRQYAALFIVVGVNDTENEMAIYEFIHNFVEVLDEYFSRVSELDIMFNLDKVHIILDEMVLNGCIVETNRARILAPLLILDKMSES

opentargets:
AP-4 adaptor complex [GO:0030124]; endosome lumen [GO:0031904]; intracellular membrane-bounded organelle [GO:0043231]; trans-Golgi network membrane [GO:0032588]; protein localization [GO:0008104]; protein targeting [GO:0006605]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9Y587-1; Sequence=Displayed; Name=2; IsoId=Q9Y587-2; Sequence=VSP_040023; Name=3; IsoId=Q9Y587-3; Sequence=VSP_046364; Note=No experimental confirmation available.; Name=4; IsoId=Q9Y587-4; Sequence=VSP_046941; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane {ECO:0000305|PubMed:10436028}; Peripheral membrane protein {ECO:0000305}.


uniprotID: P13928
geneSymbol: ANXA8
pdb: 1W3W;1W45;
name: Annexin A8 (Annexin VIII) (Annexin-8) (Vascular anticoagulant-beta) (VAC-beta)
length: 327
go: ENSG00000265190;
snps: rs3870786 rs3013886
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; cytosol [GO:0005829]; late endosome membrane [GO:0031902]; plasma membrane [GO:0005886]; actin filament binding [GO:0051015]; calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; phosphatidylinositol-3,4,5-trisphosphate binding [GO:0005547]; phosphatidylinositol-3,4-bisphosphate binding [GO:0043325]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; blood coagulation [GO:0007596]; endosomal transport [GO:0016197]; endosome organization [GO:0007032]; negative regulation of phospholipase A2 activity [GO:1900138]; negative regulation of serine-type endopeptidase activity [GO:1900004]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P13928-1; Sequence=Displayed; Name=2; IsoId=P13928-2; Sequence=VSP_056397, VSP_056398; Note=No experimental confirmation available.; Name=3; IsoId=P13928-3; Sequence=VSP_057805; Note=No experimental confirmation available.; 


uniprotID: Q2VPB7
geneSymbol: AP5B1
name: AP-5 complex subunit beta-1 (Adaptor-related protein complex 5 beta subunit) (Beta5)
length: 878
go: ENSG00000254470;
sequence:

opentargets:
AP-type membrane coat adaptor complex [GO:0030119]; lysosomal membrane [GO:0005765]; endosomal transport [GO:0016197]; protein transport [GO:0015031]


uniprotID: Q96Q42
geneSymbol: ALS2
reactome: R-HSA-8876198;
length: 1657
go: ENSG00000003393;
snps: rs3219154 rs3219155 rs3219156 rs10206276
name:
Alsin (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein) (Amyotrophic lateral sclerosis 2 protein)

sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; dendrite [GO:0030425]; dendritic spine [GO:0043197]; early endosome [GO:0005769]; growth cone [GO:0030426]; intracellular membrane-bounded organelle [GO:0043231]; lamellipodium [GO:0030027]; membrane [GO:0016020]; neuronal cell body [GO:0043025]; postsynaptic density [GO:0014069]; protein-containing complex [GO:0032991]; ruffle [GO:0001726]; vesicle [GO:0031982]; protein homodimerization activity [GO:0042803]; protein serine/threonine kinase activator activity [GO:0043539]; Rab GTPase binding [GO:0017137]; Rab guanyl-nucleotide exchange factor activity [GO:0017112]; Rac guanyl-nucleotide exchange factor activity [GO:0030676]; axonogenesis [GO:0007409]; behavioral fear response [GO:0001662]; cell death [GO:0008219]; endosomal transport [GO:0016197]; endosome organization [GO:0007032]; in utero embryonic development [GO:0001701]; locomotory behavior [GO:0007626]; neuromuscular junction development [GO:0007528]; neuron projection morphogenesis [GO:0048812]; positive regulation of GTPase activity [GO:0043547]; positive regulation of protein kinase activity [GO:0045860]; positive regulation of Rac protein signal transduction [GO:0035022]; protein localization [GO:0008104]; Rac protein signal transduction [GO:0016601]; receptor recycling [GO:0001881]; regulation of endosome size [GO:0051036]; regulation of Rho protein signal transduction [GO:0035023]; response to oxidative stress [GO:0006979]; synaptic transmission, glutamatergic [GO:0035249]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1 {ECO:0000269|PubMed:11586298}; IsoId=Q96Q42-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:11586298}; IsoId=Q96Q42-2; Sequence=VSP_050521, VSP_050522; Name=3 {ECO:0000305}; IsoId=Q96Q42-3; Sequence=VSP_050523, VSP_050524; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: P23109
geneSymbol: AMPD1
reactome: R-HSA-74217;
name: AMP deaminase 1 (EC 3.5.4.6) (AMP deaminase isoform M) (Myoadenylate deaminase)
length: 780
go: ENSG00000116748;
drug: DB00131;
snps: rs2273268 rs61752479 rs35859650 rs121912682
sequence:

opentargets:
cytosol [GO:0005829]; AMP deaminase activity [GO:0003876]; metal ion binding [GO:0046872]; myosin heavy chain binding [GO:0032036]; IMP salvage [GO:0032264]; purine-containing compound salvage [GO:0043101]; response to organic substance [GO:0010033]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P23109-1; Sequence=Displayed; Name=2; IsoId=P23109-2; Sequence=VSP_042638; 


uniprotID: Q92688
geneSymbol: ANP32B
pdb: 2ELL;2RR6;
length: 251
go: ENSG00000136938;
name:
Acidic leucine-rich nuclear phosphoprotein 32 family member B (Acidic protein rich in leucines) (Putative HLA-DR-associated protein I-2) (PHAPI2) (Silver-stainable protein SSP29)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; nucleus [GO:0005634]; histone binding [GO:0042393]; RNA polymerase binding [GO:0070063]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; inner ear development [GO:0048839]; negative regulation of cell differentiation [GO:0045596]; nucleosome assembly [GO:0006334]; positive regulation of protein export from nucleus [GO:0046827]; roof of mouth development [GO:0060021]; vasculature development [GO:0001944]; ventricular system development [GO:0021591]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Anp32b1, PHAPI2b; IsoId=Q92688-1; Sequence=Displayed; Name=2; Synonyms=Anp32b2, PHAPI2b; IsoId=Q92688-2; Sequence=VSP_019304; Note=No canonical donor splice site.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Nucleus. Note=Accumulates in the nuclei at the S phase. {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Note=Lacks a nuclear localization signal.


uniprotID: P04746
geneSymbol: AMY2A
reactome: R-HSA-189085;
name: Pancreatic alpha-amylase (PA) (EC 3.2.1.1) (1,4-alpha-D-glucan glucanohydrolase)
length: 511
go: ENSG00000243480;
drug: DB03092;DB03773;DB00284;DB03971;DB02379;DB00702;DB00491;DB03088;
location: SUBCELLULAR LOCATION: Secreted, extracellular space.
pdb:
1B2Y;1BSI;1CPU;1HNY;1KB3;1KBB;1KBK;1KGU;1KGW;1KGX;1U2Y;1U30;1U33;1XCW;1XCX;1XD0;1XD1;1XGZ;1XH0;1XH1;1XH2;2CPU;2QMK;2QV4;3BAI;3BAJ;3BAK;3BAW;3BAX;3BAY;3CPU;3IJ7;3IJ8;3IJ9;3OLD;3OLE;3OLG;3OLI;4GQQ;4GQR;4W93;4X9Y;5E0F;5EMY;5KEZ;5TD4;5U3A;5VA9;

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; alpha-amylase activity [GO:0004556]; alpha-amylase activity (releasing maltohexaose) [GO:0103025]; calcium ion binding [GO:0005509]; chloride ion binding [GO:0031404]; carbohydrate catabolic process [GO:0016052]; carbohydrate metabolic process [GO:0005975]; polysaccharide digestion [GO:0044245]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P04746-1; Sequence=Displayed; Name=2; IsoId=P04746-2; Sequence=VSP_055822, VSP_055823; Note=No experimental confirmation available.; 


uniprotID: P03950
geneSymbol: ANG
reactome: R-HSA-418990;
name: Angiogenin (EC 3.1.27.-) (Ribonuclease 5) (RNase 5)
length: 147
go: ENSG00000214274;
drug: DB04272;DB03088;
pdb:
1A4Y;1ANG;1AWZ;1B1E;1B1I;1B1J;1GV7;1H0D;1H52;1H53;1HBY;1K58;1K59;1K5A;1K5B;1UN3;1UN4;1UN5;2ANG;4AHD;4AHE;4AHF;4AHG;4AHH;4AHI;4AHJ;4AHK;4AHL;4AHM;4AHN;4AOH;4B36;5EOP;5EPZ;5EQO;5M9A;5M9C;5M9G;5M9J;5M9M;5M9P;5M9Q;5M9R;5M9S;5M9T;5M9V;

sequence:
MVMGLGVLLLVFVLGLGLTPPTLAQDNSRYTHFLTQHYDAKPQGRDDRYCESIMRRRGLTSPCKDINTFIHGNKRSIKAICENKNGNPHRENLRISKSSFQVTTCKLHGGSPWPPCQYRATAGFRNVVVACENGLPVHLDQSIFRRP

opentargets:
angiogenin-PRI complex [GO:0032311]; basement membrane [GO:0005604]; cytoplasmic vesicle [GO:0031410]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; growth cone [GO:0030426]; neuronal cell body [GO:0043025]; nucleolus [GO:0005730]; nucleus [GO:0005634]; actin binding [GO:0003779]; copper ion binding [GO:0005507]; DNA binding [GO:0003677]; endonuclease activity [GO:0004519]; heparin binding [GO:0008201]; peptide binding [GO:0042277]; protein homodimerization activity [GO:0042803]; ribonuclease activity [GO:0004540]; rRNA binding [GO:0019843]; signaling receptor binding [GO:0005102]; actin filament polymerization [GO:0030041]; activation of phospholipase A2 activity [GO:0032431]; activation of phospholipase C activity [GO:0007202]; activation of protein kinase B activity [GO:0032148]; adherens junction organization [GO:0034332]; angiogenesis [GO:0001525]; antibacterial humoral response [GO:0019731]; antifungal humoral response [GO:0019732]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; cell communication [GO:0007154]; cell migration [GO:0016477]; defense response to Gram-positive bacterium [GO:0050830]; diacylglycerol biosynthetic process [GO:0006651]; homeostatic process [GO:0042592]; innate immune response [GO:0045087]; negative regulation of smooth muscle cell proliferation [GO:0048662]; negative regulation of translation [GO:0017148]; oocyte maturation [GO:0001556]; ovarian follicle development [GO:0001541]; placenta development [GO:0001890]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of phosphorylation [GO:0042327]; positive regulation of protein secretion [GO:0050714]; response to hormone [GO:0009725]; response to hypoxia [GO:0001666]; response to yeast [GO:0001878]; rRNA transcription [GO:0009303]

snps:
rs121909535 rs1032422334 rs121909537 rs121909536 rs121909542 rs121909538 rs121909539 rs121909540 rs121909541 rs17560 rs121909543 rs121909544 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle lumen {ECO:0000250|UniProtKB:Q3TMQ6}. Secreted {ECO:0000250|UniProtKB:P10152}. Nucleus {ECO:0000269|PubMed:12051708, ECO:0000269|PubMed:25372031}. Nucleus, nucleolus {ECO:0000269|PubMed:7945327}. Note=Rapidly endocytosed by target cells and translocated to the nucleus where it accumulates in the nucleolus and binds to DNA (PubMed:12051708). {ECO:0000269|PubMed:12051708}.


uniprotID: Q01484
geneSymbol: ANK2
reactome: R-HSA-445095;R-HSA-6807878;
pdb: 4D8O;4RLV;4RLY;5Y4D;5Y4E;5Y4F;5YIR;5YIS;
name: Ankyrin-2 (ANK-2) (Ankyrin-B) (Brain ankyrin) (Non-erythroid ankyrin)
length: 3957
go: ENSG00000145362;
snps: rs29372 rs72544141 rs28377576 rs35530544 rs121912705 rs121912706 rs45454496
sequence:

opentargets:
A band [GO:0031672]; apical plasma membrane [GO:0016324]; axon initial segment [GO:0043194]; basolateral plasma membrane [GO:0016323]; costamere [GO:0043034]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; early endosome [GO:0005769]; intercalated disc [GO:0014704]; lysosome [GO:0005764]; M band [GO:0031430]; membrane [GO:0016020]; membrane raft [GO:0045121]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; recycling endosome [GO:0055037]; sarcolemma [GO:0042383]; T-tubule [GO:0030315]; Z disc [GO:0030018]; ATPase binding [GO:0051117]; enzyme binding [GO:0019899]; ion channel binding [GO:0044325]; protein binding, bridging [GO:0030674]; protein kinase binding [GO:0019901]; spectrin binding [GO:0030507]; structural constituent of cytoskeleton [GO:0005200]; atrial cardiac muscle cell action potential [GO:0086014]; atrial cardiac muscle cell to AV node cell communication [GO:0086066]; atrial septum development [GO:0003283]; cellular calcium ion homeostasis [GO:0006874]; cellular protein localization [GO:0034613]; endocytosis [GO:0006897]; ER to Golgi vesicle-mediated transport [GO:0006888]; membrane depolarization during SA node cell action potential [GO:0086046]; paranodal junction assembly [GO:0030913]; positive regulation of calcium ion transmembrane transporter activity [GO:1901021]; positive regulation of calcium ion transport [GO:0051928]; positive regulation of cation channel activity [GO:2001259]; positive regulation of gene expression [GO:0010628]; positive regulation of potassium ion transmembrane transporter activity [GO:1901018]; positive regulation of potassium ion transport [GO:0043268]; protein localization to cell surface [GO:0034394]; protein localization to endoplasmic reticulum [GO:0070972]; protein localization to M-band [GO:0036309]; protein localization to organelle [GO:0033365]; protein localization to plasma membrane [GO:0072659]; protein localization to T-tubule [GO:0036371]; protein stabilization [GO:0050821]; protein transport [GO:0015031]; regulation of atrial cardiac muscle cell action potential [GO:0098910]; regulation of calcium ion transmembrane transporter activity [GO:1901019]; regulation of calcium ion transport [GO:0051924]; regulation of cardiac muscle cell contraction [GO:0086004]; regulation of cardiac muscle contraction [GO:0055117]; regulation of cardiac muscle contraction by calcium ion signaling [GO:0010882]; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion [GO:0010881]; regulation of heart rate [GO:0002027]; regulation of heart rate by cardiac conduction [GO:0086091]; regulation of protein stability [GO:0031647]; regulation of release of sequestered calcium ion into cytosol [GO:0051279]; regulation of SA node cell action potential [GO:0098907]; regulation of ventricular cardiac muscle cell membrane repolarization [GO:0060307]; response to methylmercury [GO:0051597]; SA node cell action potential [GO:0086015]; SA node cell to atrial cardiac muscle cell communication [GO:0086070]; sarcoplasmic reticulum calcium ion transport [GO:0070296]; T-tubule organization [GO:0033292]; ventricular cardiac muscle cell action potential [GO:0086005]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=3; IsoId=Q01484-4; Sequence=Displayed; Name=2; IsoId=Q01484-2; Sequence=VSP_000268; Name=4; IsoId=Q01484-5; Sequence=VSP_037058, VSP_037059, VSP_000268; Note=No experimental confirmation available.; Name=5; IsoId=Q01484-7; Sequence=VSP_037057, VSP_000268, VSP_037060; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:19007774}. Membrane {ECO:0000269|PubMed:19007774}. Cytoplasm, myofibril, sarcomere, M line {ECO:0000250|UniProtKB:Q8C8R3}. Apical cell membrane {ECO:0000250|UniProtKB:Q8C8R3}. Cell membrane {ECO:0000269|PubMed:19007774}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250|UniProtKB:Q8C8R3}. Early endosome {ECO:0000250|UniProtKB:Q8C8R3}. Recycling endosome {ECO:0000250|UniProtKB:Q8C8R3}. Lysosome {ECO:0000250|UniProtKB:Q8C8R3}. Mitochondrion {ECO:0000250|UniProtKB:Q8C8R3}. Note=Expressed at the apical membrane of airway lung epithelial cells (By similarity). Localized to the plasma membrane of the inner segments of photoreceptors in retina. Colocalizes with SPTBN1 in a distinct intracellular compartment of neonatal cardiomyocytes (PubMed:19007774). In skeletal muscle, localizes to neuromuscular junctions (By similarity). Localizes with puncta at mitochondria ends. Colocalizes and cotransports on motile vesicles with RABGAP1L (By similarity). {ECO:0000250|UniProtKB:Q8C8R3, ECO:0000269|PubMed:19007774}.


uniprotID: Q9NQ90
geneSymbol: ANO2
reactome: R-HSA-2672351;
name: Anoctamin-2 (Transmembrane protein 16B)
length: 1003
go: ENSG00000047617;
snps: rs3741903 rs3741901 rs17788563 rs1860961
sequence:

opentargets:
chloride channel complex [GO:0034707]; non-motile cilium [GO:0097730]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; intracellular calcium activated chloride channel activity [GO:0005229]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; ion transmembrane transport [GO:0034220]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NQ90-1; Sequence=Displayed; Note=Splice site between exons 4 and 5 is non-canonical.; Name=2; IsoId=Q9NQ90-2; Sequence=VSP_040493, VSP_040494; Note=Splice site between exons 4 and 5 is non-canonical.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:20056604}; Multi-pass membrane protein {ECO:0000269|PubMed:20056604}.


uniprotID: Q9HCJ1
geneSymbol: ANKH
reactome: R-HSA-5223345;
name: Progressive ankylosis protein homolog (ANK)
length: 492
go: ENSG00000154122;
snps: rs121908409 rs121908410 rs121908407 rs28939080
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; outer membrane [GO:0019867]; plasma membrane [GO:0005886]; inorganic diphosphate transmembrane transporter activity [GO:0030504]; inorganic phosphate transmembrane transporter activity [GO:0005315]; phosphate ion transmembrane transporter activity [GO:0015114]; locomotory behavior [GO:0007626]; regulation of bone mineralization [GO:0030500]; skeletal system development [GO:0001501]; transmembrane transport [GO:0055085]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HCJ1-1; Sequence=Displayed; Name=2; IsoId=Q9HCJ1-2; Sequence=VSP_055824; Note=No experimental confirmation available.; 


uniprotID: Q53RE8
geneSymbol: ANKRD39
name: Ankyrin repeat domain-containing protein 39
length: 183
go: ENSG00000213337;
snps: rs17852947
sequence:
MATPRPCADGPCCSHPSAVLGVQQTLEEMDFERGIWSAALNGDLGRVKHLIQKAEDPSQPDSAGYTALHYASRNGHYAVCQFLLESGAKCDAQTHGGATALHRASYCGHTEIARLLLSHGSNPRVVDDDGMTSLHKAAERGHGDICSLLLQHSPALKAIRDRKARLACDLLPCNSDLRDLLSS


uniprotID: Q8NB46
geneSymbol: ANKRD52
length: 1076
go: ENSG00000139645;
name:
Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit C (PP6-ARS-C) (Serine/threonine-protein phosphatase 6 regulatory subunit ARS-C) (Ankyrin repeat domain-containing protein 52)

sequence:


uniprotID: Q3KP44
geneSymbol: ANKRD55
name: Ankyrin repeat domain-containing protein 55
length: 614
go: ENSG00000164512;
snps: rs321776 rs34879141
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q3KP44-1; Sequence=Displayed; Name=2; IsoId=Q3KP44-2; Sequence=VSP_022740; Note=No experimental confirmation available.; Name=3; IsoId=Q3KP44-3; Sequence=VSP_022740, VSP_022741; Note=No experimental confirmation available.; 


uniprotID: A6NF34
geneSymbol: ANTXRL
name: Anthrax toxin receptor-like
length: 631
go: ENSG00000274209;
snps: rs7091749
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
cell surface [GO:0009986]; integral component of membrane [GO:0016021]; metal ion binding [GO:0046872]; transmembrane signaling receptor activity [GO:0004888]; toxin transport [GO:1901998]


uniprotID: Q6UB98
geneSymbol: ANKRD12
name: Ankyrin repeat domain-containing protein 12 (Ankyrin repeat-containing cofactor 2) (GAC-1 protein)
length: 2062
go: ENSG00000101745;
opentargets: cytosol [GO:0005829]; nucleoplasm [GO:0005654]
snps: rs2298548 rs35101529 rs17498752 rs7243088 rs2298546 rs4798791 rs34996750 rs3744822
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15184363, ECO:0000269|Ref.2}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6UB98-1; Sequence=Displayed; Name=2; IsoId=Q6UB98-2; Sequence=VSP_010901; 


uniprotID: Q9UJ72
geneSymbol: ANXA10
name: Annexin A10 (Annexin-10) (Annexin-14)
length: 324
go: ENSG00000109511;
opentargets: calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]
snps: rs6836994
sequence:


uniprotID: P27338
geneSymbol: MAOB
reactome: R-HSA-141333;
name: Amine oxidase [flavin-containing] B (EC 1.4.3.4) (Monoamine oxidase type B) (MAO-B)
length: 520
go: ENSG00000069535;
pdb:
1GOS;1H8R;1OJ9;1OJA;1OJC;1OJD;1S2Q;1S2Y;1S3B;1S3E;2BK3;2BK4;2BK5;2BYB;2C64;2C65;2C66;2C67;2C70;2C72;2C73;2C75;2C76;2V5Z;2V60;2V61;2VRL;2VRM;2VZ2;2XCG;2XFN;2XFO;2XFP;2XFQ;2XFU;3PO7;3ZYX;4A79;4A7A;4CRT;5MRL;6FVZ;6FW0;6FWC;

sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial envelope [GO:0005740]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; electron transfer activity [GO:0009055]; flavin adenine dinucleotide binding [GO:0050660]; primary amine oxidase activity [GO:0008131]; protein homodimerization activity [GO:0042803]; dopamine catabolic process [GO:0042420]; hydrogen peroxide biosynthetic process [GO:0050665]; negative regulation of serotonin secretion [GO:0014063]; neurotransmitter catabolic process [GO:0042135]; positive regulation of dopamine metabolic process [GO:0045964]; response to aluminum ion [GO:0010044]; response to corticosterone [GO:0051412]; response to ethanol [GO:0045471]; response to lipopolysaccharide [GO:0032496]; response to selenium ion [GO:0010269]; substantia nigra development [GO:0021762]

drug:
DB08176;DB08516;DB08480;DB01472;DB04307;DB07512;DB07513;DB00915;DB00182;DB04889;DB01445;DB00988;DB01363;DB02509;DB03147;DB00614;DB04818;DB02095;DB01247;DB04147;DB00601;DB01577;DB01442;DB01171;DB08082;DB04677;DB02211;DB03894;DB08804;DB04820;DB00184;DB04821;DB01626;DB00780;DB00191;DB00721;DB01168;DB01367;DB06654;DB01037;DB01104;DB00752;DB04832;DB00909;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P27338-1; Sequence=Displayed; Name=2; IsoId=P27338-2; Sequence=VSP_057047, VSP_057048, VSP_057049; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane; Single-pass type IV membrane protein; Cytoplasmic side.


uniprotID: O15084
geneSymbol: ANKRD28
reactome: R-HSA-204005;
length: 1053
go: ENSG00000206560;
name:
Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A (PP6-ARS-A) (Serine/threonine-protein phosphatase 6 regulatory subunit ARS-A) (Ankyrin repeat domain-containing protein 28) (Phosphatase interactor targeting protein hnRNP K) (PITK)

sequence:

opentargets:
cytosol [GO:0005829]; Golgi membrane [GO:0000139]; nucleoplasm [GO:0005654]; COPII vesicle coating [GO:0048208]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=4;  Name=1; IsoId=O15084-3; Sequence=Displayed; Name=2; IsoId=O15084-2; Sequence=VSP_012433; Note=Produced by alternative promoter usage.; Name=3; IsoId=O15084-1; Sequence=VSP_041013; Name=4; IsoId=O15084-4; Sequence=VSP_041014; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:16564677}. Note=Seems to be excluded from nucleoli.


uniprotID: Q9BXS5
geneSymbol: AP1M1
reactome: R-HSA-164940;R-HSA-2132295;R-HSA-432720;R-HSA-432722;R-HSA-6798695;
length: 423
go: ENSG00000072958;
snps: rs999036825
name:
AP-1 complex subunit mu-1 (AP-mu chain family member mu1A) (Adaptor protein complex AP-1 subunit mu-1) (Adaptor-related protein complex 1 subunit mu-1) (Clathrin assembly protein complex 1 mu-1 medium chain 1) (Clathrin coat assembly protein AP47) (Clathrin coat-associated protein AP47) (Golgi adaptor HA1/AP1 adaptin mu-1 subunit) (Mu-adaptin 1) (Mu1A-adaptin)

sequence:

opentargets:
clathrin adaptor complex [GO:0030131]; clathrin-coated vesicle membrane [GO:0030665]; cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; Golgi membrane [GO:0000139]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; trans-Golgi network membrane [GO:0032588]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; endosome to melanosome transport [GO:0035646]; intracellular protein transport [GO:0006886]; melanosome organization [GO:0032438]; neutrophil degranulation [GO:0043312]; regulation of defense response to virus by virus [GO:0050690]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BXS5-1; Sequence=Displayed; Name=2; IsoId=Q9BXS5-2; Sequence=VSP_042542; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus. Cytoplasmic vesicle, clathrin-coated vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex.


uniprotID: O43299
geneSymbol: AP5Z1
name: AP-5 complex subunit zeta-1 (Adaptor-related protein complex 5 zeta subunit) (Zeta5)
length: 807
go: ENSG00000242802;
snps: rs11549839
sequence:

opentargets:
AP-5 adaptor complex [GO:0044599]; AP-type membrane coat adaptor complex [GO:0030119]; cytoplasm [GO:0005737]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; double-strand break repair via homologous recombination [GO:0000724]; endosomal transport [GO:0016197]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O43299-1; Sequence=Displayed; Name=2; IsoId=O43299-2; Sequence=VSP_021673, VSP_021676; Note=No experimental confirmation available.; Name=3; IsoId=O43299-3; Sequence=VSP_021672, VSP_021674, VSP_021675; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20613862}. Nucleus {ECO:0000269|PubMed:20613862}. Note=By SDS-PAGE, 2 isoforms have been observed, the shorter seems to be predominantly nuclear and the longer is mostly cytoplasmic. {ECO:0000269|PubMed:20613862}.


uniprotID: Q92481
geneSymbol: TFAP2B
reactome: R-HSA-3232118;R-HSA-8866904;R-HSA-8866907;R-HSA-8866910;
name: Transcription factor AP-2-beta (AP2-beta) (Activating enhancer-binding protein 2-beta)
length: 460
go: ENSG00000008196;
snps: rs80338910 rs80338912 rs80338912 rs80338914 rs80338915 rs80338917
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; cysteine-type endopeptidase inhibitor activity involved in apoptotic process [GO:0043027]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; enhancer sequence-specific DNA binding [GO:0001158]; protein dimerization activity [GO:0046983]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; transcription coactivator activity [GO:0003713]; transcription corepressor activity [GO:0003714]; transcription factor activity, RNA polymerase II core promoter sequence-specific DNA binding [GO:0000983]; aorta morphogenesis [GO:0035909]; calcium ion homeostasis [GO:0055074]; cellular ammonia homeostasis [GO:0097275]; cellular creatinine homeostasis [GO:0097276]; cellular urea homeostasis [GO:0097277]; collecting duct development [GO:0072044]; distal tubule development [GO:0072017]; ductus arteriosus closure [GO:0097070]; fat cell differentiation [GO:0045444]; forelimb morphogenesis [GO:0035136]; glucose homeostasis [GO:0042593]; glucose metabolic process [GO:0006006]; hindlimb morphogenesis [GO:0035137]; kidney development [GO:0001822]; magnesium ion homeostasis [GO:0010960]; metanephric nephron development [GO:0072210]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; phosphate ion homeostasis [GO:0055062]; positive regulation of cell proliferation [GO:0008284]; positive regulation of neuron apoptotic process [GO:0043525]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of urine volume [GO:0035810]; potassium ion homeostasis [GO:0055075]; regulation of BMP signaling pathway [GO:0030510]; regulation of cell differentiation [GO:0045595]; regulation of insulin secretion [GO:0050796]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription, DNA-templated [GO:0006355]; renal water homeostasis [GO:0003091]; response to drug [GO:0042493]; response to lithium ion [GO:0010226]; retina layer formation [GO:0010842]; skin development [GO:0043588]; sodium ion homeostasis [GO:0055078]; sympathetic nervous system development [GO:0048485]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92481-1; Sequence=Displayed; Name=2; IsoId=Q92481-2; Sequence=VSP_006408; Note=No experimental confirmation available.; 


uniprotID: Q6ZNB7
geneSymbol: AGMO
reactome: R-HSA-75109;
name: Alkylglycerol monooxygenase (EC 1.14.16.5) (Transmembrane protein 195)
length: 445
go: ENSG00000187546;
snps: rs58564185 rs59160822
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; glyceryl-ether monooxygenase activity [GO:0050479]; iron ion binding [GO:0005506]; ether lipid metabolic process [GO:0046485]; membrane lipid metabolic process [GO:0006643]; triglyceride biosynthetic process [GO:0019432]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:20643956}; Multi-pass membrane protein {ECO:0000269|PubMed:20643956}.


uniprotID: P30837
geneSymbol: ALDH1B1
reactome: R-HSA-71384;
length: 517
drug: DB00157;
snps: rs2228093 rs2073478 rs4646773 rs4878199
location: SUBCELLULAR LOCATION: Mitochondrion matrix.
name:
Aldehyde dehydrogenase X, mitochondrial (EC 1.2.1.3) (Aldehyde dehydrogenase 5) (Aldehyde dehydrogenase family 1 member B1)

sequence:

opentargets:
intracellular membrane-bounded organelle [GO:0043231]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; aldehyde dehydrogenase (NAD) activity [GO:0004029]; glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity [GO:0043878]; NAD binding [GO:0051287]; carbohydrate metabolic process [GO:0005975]; ethanol catabolic process [GO:0006068]; ethanol oxidation [GO:0006069]


uniprotID: Q01432
geneSymbol: AMPD3
reactome: R-HSA-6798695;R-HSA-74217;
name: AMP deaminase 3 (EC 3.5.4.6) (AMP deaminase isoform E) (Erythrocyte AMP deaminase)
length: 767
go: ENSG00000133805;
sequence:

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; secretory granule lumen [GO:0034774]; AMP deaminase activity [GO:0003876]; metal ion binding [GO:0046872]; ADP metabolic process [GO:0046031]; AMP catabolic process [GO:0006196]; ATP metabolic process [GO:0046034]; energy homeostasis [GO:0097009]; erythrocyte homeostasis [GO:0034101]; GTP metabolic process [GO:0046039]; IMP salvage [GO:0032264]; neutrophil degranulation [GO:0043312]; purine-containing compound salvage [GO:0043101]

snps:
rs11042836 rs117706710 rs147542803 rs750004231 rs758038726 rs766280048 rs1273151844 rs36003153 rs3741040 rs748852415 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1B; IsoId=Q01432-1; Sequence=Displayed; Name=1A; IsoId=Q01432-2; Sequence=VSP_001275, VSP_001277; Name=1C; IsoId=Q01432-3; Sequence=VSP_001276, VSP_001278; Name=2; IsoId=Q01432-4; Sequence=VSP_001275; Name=3; IsoId=Q01432-5; Sequence=VSP_001276; Name=4; IsoId=Q01432-6; Sequence=VSP_044230; 


uniprotID: Q8IVF6
geneSymbol: ANKRD18A
name: Ankyrin repeat domain-containing protein 18A
length: 992
go: ENSG00000180071;
snps: rs1832313 rs632200 rs2996347 rs2799163 rs12341435 rs11999308 rs12341435
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IVF6-1; Sequence=Displayed; Name=2; IsoId=Q8IVF6-2; Sequence=VSP_056912, VSP_056913; Note=No experimental confirmation available.; 


uniprotID: Q8NAG6
geneSymbol: ANKLE1
length: 615
snps: rs8100241 rs1864116 rs8108174 rs59119993 rs2363956 rs891017 rs11086065 rs34112069
name:
Ankyrin repeat and LEM domain-containing protein 1 (EC 3.1.-.-) (Ankyrin repeat domain-containing protein 41) (LEM-domain containing protein 3)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; endonuclease activity [GO:0004519]; DNA repair [GO:0006281]; nucleic acid phosphodiester bond hydrolysis [GO:0090305]; positive regulation of response to DNA damage stimulus [GO:2001022]; protein export from nucleus [GO:0006611]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NAG6-2; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q8NAG6-1; Sequence=VSP_039879, VSP_039880; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22399800, ECO:0000269|PubMed:27245214}. Nucleus {ECO:0000269|PubMed:22399800, ECO:0000269|PubMed:27245214}. Note=At the steady state, localizes predominantly in the cytoplasm. {ECO:0000269|PubMed:22399800, ECO:0000269|PubMed:27245214}.


uniprotID: Q9NVM4
geneSymbol: PRMT7
reactome: R-HSA-3214858;
length: 692
go: ENSG00000132600;
snps: rs149170494 rs762515973 rs751670999
name:
Protein arginine N-methyltransferase 7 (EC 2.1.1.321) (Histone-arginine N-methyltransferase PRMT7) ([Myelin basic protein]-arginine N-methyltransferase PRMT7)

sequence:

opentargets:
cytosol [GO:0005829]; fibrillar center [GO:0001650]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; [myelin basic protein]-arginine N-methyltransferase activity [GO:0016277]; histone binding [GO:0042393]; histone methyltransferase activity (H4-R3 specific) [GO:0044020]; histone-arginine N-methyltransferase activity [GO:0008469]; protein-arginine N-methyltransferase activity [GO:0016274]; protein-arginine omega-N asymmetric methyltransferase activity [GO:0035242]; protein-arginine omega-N monomethyltransferase activity [GO:0035241]; protein-arginine omega-N symmetric methyltransferase activity [GO:0035243]; ribonucleoprotein complex binding [GO:0043021]; S-adenosylmethionine-dependent methyltransferase activity [GO:0008757]; cell differentiation [GO:0030154]; DNA methylation involved in gamete generation [GO:0043046]; histone arginine methylation [GO:0034969]; histone methylation [GO:0016571]; peptidyl-arginine methylation [GO:0018216]; regulation of gene expression by genetic imprinting [GO:0006349]; regulation of protein binding [GO:0043393]; regulation of transcription, DNA-templated [GO:0006355]; spliceosomal snRNP assembly [GO:0000387]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9NVM4-1; Sequence=Displayed; Name=2; IsoId=Q9NVM4-2; Sequence=VSP_005213, VSP_005214; Note=No experimental confirmation available.; Name=3; IsoId=Q9NVM4-3; Sequence=VSP_037253; Note=No experimental confirmation available.; Name=4; IsoId=Q9NVM4-4; Sequence=VSP_037254, VSP_037255; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:15494416}. Nucleus {ECO:0000269|PubMed:15494416}.


uniprotID: P20594
geneSymbol: NPR2
reactome: R-HSA-5578768;
length: 1047
go: ENSG00000159899;
drug: DB01613;DB04899;
name:
Atrial natriuretic peptide receptor 2 (EC 4.6.1.2) (Atrial natriuretic peptide receptor type B) (ANP-B) (ANPR-B) (NPR-B) (Guanylate cyclase B) (GC-B)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; GTP binding [GO:0005525]; guanylate cyclase activity [GO:0004383]; hormone binding [GO:0042562]; identical protein binding [GO:0042802]; natriuretic peptide receptor activity [GO:0016941]; peptide hormone binding [GO:0017046]; peptide receptor activity [GO:0001653]; protein kinase activity [GO:0004672]; bone development [GO:0060348]; cellular response to granulocyte macrophage colony-stimulating factor stimulus [GO:0097011]; cGMP biosynthetic process [GO:0006182]; cGMP-mediated signaling [GO:0019934]; negative regulation of meiotic cell cycle [GO:0051447]; negative regulation of oocyte maturation [GO:1900194]; ossification [GO:0001503]; positive regulation of cGMP-mediated signaling [GO:0010753]; receptor guanylyl cyclase signaling pathway [GO:0007168]; regulation of blood pressure [GO:0008217]; regulation of cardiac conduction [GO:1903779]; reproductive process [GO:0022414]; signal transduction [GO:0007165]

snps:
rs28931581 rs796065355 rs758478717 rs28931582 rs28929479 rs768423636 rs55747238 rs139036657 rs796065356 rs587777597 rs587777596 rs5816 rs1303913631 rs766256429 rs55700371 rs370158184 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=P20594-1; Sequence=Displayed; Name=Short; Synonyms=NPR-BI; IsoId=P20594-2; Sequence=VSP_001810; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:24001744, ECO:0000269|PubMed:26980729}; Single-pass type I membrane protein {ECO:0000305|PubMed:26980729}.


uniprotID: Q9HCE9
geneSymbol: ANO8
reactome: R-HSA-2672351;R-HSA-381426;R-HSA-8957275;
name: Anoctamin-8 (Transmembrane protein 16H)
length: 1232
go: ENSG00000074855;
sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; intracellular calcium activated chloride channel activity [GO:0005229]; cellular protein metabolic process [GO:0044267]; chloride transport [GO:0006821]; ion transmembrane transport [GO:0034220]; post-translational protein modification [GO:0043687]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HCE9-1; Sequence=Displayed; Name=2; IsoId=Q9HCE9-2; Sequence=VSP_020351, VSP_020352; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:20056604, ECO:0000269|PubMed:22946059}; Multi-pass membrane protein {ECO:0000269|PubMed:20056604, ECO:0000269|PubMed:22946059}. Note=Shows predominantly an intracellular localization with a weak expression in the cell membrane.


uniprotID: Q7Z6G8
geneSymbol: ANKS1B
pdb: 2EAM;2KE7;2KIV;2M38;
length: 1248
go: ENSG00000185046;
name:
Ankyrin repeat and sterile alpha motif domain-containing protein 1B (Amyloid-beta protein intracellular domain-associated protein 1) (AIDA-1) (E2A-PBX1-associated protein) (EB-1)

sequence:

opentargets:
Cajal body [GO:0015030]; cell junction [GO:0030054]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; intracellular membrane-bounded organelle [GO:0043231]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; ephrin receptor binding [GO:0046875]; regulation of synaptic plasticity by receptor localization to synapse [GO:1900383]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=10;  Name=1; Synonyms=AIDA-1b; IsoId=Q7Z6G8-1; Sequence=Displayed; Name=2; Synonyms=AIDA-1c; IsoId=Q7Z6G8-2; Sequence=VSP_032702, VSP_032704, VSP_032707, VSP_032710; Name=3; IsoId=Q7Z6G8-3; Sequence=VSP_032702, VSP_032704, VSP_032709, VSP_032710; Name=4; Synonyms=AIDA-1a; IsoId=Q7Z6G8-4; Sequence=VSP_032702, VSP_032704, VSP_032711; Name=5; IsoId=Q7Z6G8-5; Sequence=VSP_032702, VSP_032704, VSP_032708, VSP_032710; Name=6; Synonyms=AIDA-1bDeltaAnk; IsoId=Q7Z6G8-6; Sequence=VSP_032703, VSP_032705, VSP_032707; Name=7; IsoId=Q7Z6G8-7; Sequence=VSP_032702, VSP_032704, VSP_032707; Name=8; IsoId=Q7Z6G8-8; Sequence=VSP_032701, VSP_032706, VSP_032712; Name=9; IsoId=Q7Z6G8-9; Sequence=VSP_046414; Note=No experimental confirmation available.; Name=10; IsoId=Q7Z6G8-10; Sequence=VSP_046415, VSP_032707, VSP_032712; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15004329, ECO:0000269|PubMed:15347684, ECO:0000269|PubMed:15862129, ECO:0000269|PubMed:19666031}.; SUBCELLULAR LOCATION: Isoform 2: Nucleus.; SUBCELLULAR LOCATION: Isoform 3: Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Cell projection, dendritic spine. Nucleus. Nucleus, Cajal body. Note=The synaptic localization requires DLG4 interaction. Translocation to the nucleus in response to stimulation of NMDA receptors (NMDARs) in a calcium-independent manner (By similarity). {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 4: Nucleus. Note=The interaction with APP causes its partial exclusion from the nucleus, when APP is overexpressed.; SUBCELLULAR LOCATION: Isoform 6: Nucleus.


uniprotID: Q8WVL7
geneSymbol: ANKRD49
name: Ankyrin repeat domain-containing protein 49 (Fetal globin-inducing factor)
length: 239
go: ENSG00000168876;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q8VE42}.
sequence:

opentargets:
nucleus [GO:0005634]; cell differentiation [GO:0030154]; positive regulation of transcription, DNA-templated [GO:0045893]; spermatogenesis [GO:0007283]


uniprotID: P58335
geneSymbol: ANTXR2
reactome: R-HSA-5210891;
pdb: 1SHT;1SHU;1T6B;1TZN;
name: Anthrax toxin receptor 2 (Capillary morphogenesis gene 2 protein) (CMG-2)
length: 489
go: ENSG00000163297;
snps: rs886041401 rs137852902 rs137852905 rs781637328 rs137852903 rs12647691 rs137852901
sequence:

opentargets:
cell surface [GO:0009986]; endoplasmic reticulum membrane [GO:0005789]; endosome membrane [GO:0010008]; external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; metal ion binding [GO:0046872]; transmembrane signaling receptor activity [GO:0004888]; reproductive process [GO:0022414]; toxin transport [GO:1901998]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P58335-1; Sequence=Displayed; Name=2; IsoId=P58335-2; Sequence=VSP_008343; Name=3; IsoId=P58335-3; Sequence=VSP_008344, VSP_008345; Note=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=P58335-4; Sequence=VSP_008346; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass type I membrane protein. Note=Expressed at the cell surface.; SUBCELLULAR LOCATION: Isoform 2: Endoplasmic reticulum membrane; Single-pass type I membrane protein. Note=Expressed predominantly within the endoplasmic reticulum and not at the plasma membrane.; SUBCELLULAR LOCATION: Isoform 3: Secreted.


uniprotID: Q96NW4
geneSymbol: ANKRD27
reactome: R-HSA-8876198;
pdb: 4B93;4CYM;4CZ2;
name: Ankyrin repeat domain-containing protein 27 (VPS9 domain-containing protein)
length: 1050
go: ENSG00000105186;
snps: rs2287669 rs2302970
sequence:

opentargets:
cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; early endosome [GO:0005769]; late endosome [GO:0005770]; lysosome [GO:0005764]; melanosome [GO:0042470]; membrane [GO:0016020]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; transport vesicle [GO:0030133]; tubular endosome [GO:0097422]; GTPase activator activity [GO:0005096]; guanyl-nucleotide exchange factor activity [GO:0005085]; Rab GTPase binding [GO:0017137]; Rab guanyl-nucleotide exchange factor activity [GO:0017112]; SNARE binding [GO:0000149]; early endosome to late endosome transport [GO:0045022]; endosome to melanosome transport [GO:0035646]; negative regulation of SNARE complex assembly [GO:0035544]; neuron projection morphogenesis [GO:0048812]; positive regulation of dendrite morphogenesis [GO:0050775]; protein transport [GO:0015031]; retrograde transport, endosome to plasma membrane [GO:1990126]

location:
SUBCELLULAR LOCATION: Early endosome {ECO:0000269|PubMed:16525121, ECO:0000269|PubMed:24856514}. Late endosome {ECO:0000269|PubMed:23104059}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:23104059}. Lysosome {ECO:0000269|PubMed:23104059}. Cell membrane {ECO:0000269|PubMed:23104059}. Melanosome {ECO:0000250|UniProtKB:Q3UMR0}. Note=Colocalizes with VAMP7 in transport vesicles in the shaft of hippocampal neurons (By similarity). {ECO:0000250|UniProtKB:Q3UMR0}.


uniprotID: Q9HBW9
geneSymbol: ADGRL4
length: 690
go: ENSG00000162618;
snps: rs12754818 rs1968956 rs2275902
name:
Adhesion G protein-coupled receptor L4 (EGF, latrophilin and seven transmembrane domain-containing protein 1) (EGF-TM7-latrophilin-related protein) (ETL protein)

sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; G protein-coupled receptor activity [GO:0004930]; protein dimerization activity [GO:0046983]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; cell surface receptor signaling pathway [GO:0007166]; G protein-coupled receptor signaling pathway [GO:0007186]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23871637}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: P05062
geneSymbol: ALDOB
reactome: R-HSA-5657560;R-HSA-70171;R-HSA-70263;R-HSA-70350;
pdb: 1QO5;1XDL;1XDM;
name: Fructose-bisphosphate aldolase B (EC 4.1.2.13) (Liver-type aldolase)
length: 364
go: ENSG00000136872;
drug: DB02515;
sequence:

opentargets:
centriolar satellite [GO:0034451]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; microtubule organizing center [GO:0005815]; ATPase binding [GO:0051117]; cytoskeletal protein binding [GO:0008092]; fructose binding [GO:0070061]; fructose-1-phosphate aldolase activity [GO:0061609]; fructose-bisphosphate aldolase activity [GO:0004332]; identical protein binding [GO:0042802]; canonical glycolysis [GO:0061621]; fructose 1,6-bisphosphate metabolic process [GO:0030388]; fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate [GO:0061624]; fructose metabolic process [GO:0006000]; gluconeogenesis [GO:0006094]; glycolytic process [GO:0006096]; NADH oxidation [GO:0006116]; positive regulation of ATPase activity [GO:0032781]; vacuolar proton-transporting V-type ATPase complex assembly [GO:0070072]

snps:
rs41281039 rs781023784 rs10123355 rs118204430 rs1800546 rs76917243 rs3739721 rs764701775 rs10989495 rs145078268 rs555935217 rs78340951 rs77718928 rs369586696 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000269|PubMed:18000879}.


uniprotID: P19021
geneSymbol: PAM
length: 973
go: ENSG00000145730;
drug: DB04150;DB00126;
snps: rs2230458
name:
Peptidyl-glycine alpha-amidating monooxygenase (PAM) [Includes: Peptidylglycine alpha-hydroxylating monooxygenase (PHM) (EC 1.14.17.3); Peptidyl-alpha-hydroxyglycine alpha-amidating lyase (EC 4.3.2.5) (Peptidylamidoglycolate lyase) (PAL)]

sequence:

opentargets:
cell surface [GO:0009986]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; neuron projection [GO:0043005]; perikaryon [GO:0043204]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; trans-Golgi network [GO:0005802]; calcium ion binding [GO:0005509]; copper ion binding [GO:0005507]; L-ascorbic acid binding [GO:0031418]; peptidylamidoglycolate lyase activity [GO:0004598]; peptidylglycine monooxygenase activity [GO:0004504]; protein kinase binding [GO:0019901]; zinc ion binding [GO:0008270]; central nervous system development [GO:0007417]; heart development [GO:0007507]; lactation [GO:0007595]; limb development [GO:0060173]; long-chain fatty acid metabolic process [GO:0001676]; maternal process involved in female pregnancy [GO:0060135]; odontogenesis [GO:0042476]; ovulation cycle process [GO:0022602]; peptide amidation [GO:0001519]; protein amidation [GO:0018032]; protein homooligomerization [GO:0051260]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of protein secretion [GO:0050708]; regulation of transcription by RNA polymerase II [GO:0006357]; response to copper ion [GO:0046688]; response to drug [GO:0042493]; response to estradiol [GO:0032355]; response to glucocorticoid [GO:0051384]; response to hypoxia [GO:0001666]; response to pH [GO:0009268]; toxin metabolic process [GO:0009404]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=P19021-1; Sequence=Displayed; Name=2; IsoId=P19021-2; Sequence=VSP_001227; Name=3; IsoId=P19021-3; Sequence=VSP_001228; Note=Soluble. {ECO:0000269|PubMed:8144680}; Name=4; IsoId=P19021-4; Sequence=VSP_001229; Note=Soluble. {ECO:0000269|PubMed:8144680}; Name=5; IsoId=P19021-5; Sequence=VSP_038691; Name=6; IsoId=P19021-6; Sequence=VSP_042209; 

location:
SUBCELLULAR LOCATION: Isoform 1: Membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform 2: Membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform 3: Secreted. Note=Secreted from secretory granules.; SUBCELLULAR LOCATION: Isoform 4: Secreted. Note=Secreted from secretory granules.


uniprotID: Q9BXL6
geneSymbol: CARD14
name: Caspase recruitment domain-containing protein 14 (CARD-containing MAGUK protein 2) (Carma 2)
length: 1004
go: ENSG00000141527;
sequence:

opentargets:
cytoplasm [GO:0005737]; plasma membrane [GO:0005886]; CARD domain binding [GO:0050700]; activation of NF-kappaB-inducing kinase activity [GO:0007250]; apoptotic process [GO:0006915]; negative regulation of apoptotic process [GO:0043066]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of protein phosphorylation [GO:0001934]; tumor necrosis factor-mediated signaling pathway [GO:0033209]

snps:
rs281875217 rs115582620 rs375624435 rs281875215 rs281875214 rs281875213 rs281875212 rs146214639 rs200731780 rs777305616 rs387907240 rs281875216 rs144475004 rs199517469 rs281875218 rs200790561 rs114688446 rs574982768 rs747854314 rs281875219 rs200132496 rs762364495 rs2066964 rs34367357 rs281875220 rs201285077 rs117918077 rs151150961 rs11652075 rs2289541 rs34850974 rs144285237 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=CARD14fl {ECO:0000303|PubMed:27071417}, CARMA2fl {ECO:0000303|PubMed:21302310}; IsoId=Q9BXL6-1; Sequence=Displayed; Name=2; Synonyms=Short, CARD14sh {ECO:0000303|PubMed:27071417}, CARMA2sh {ECO:0000303|PubMed:21302310}; IsoId=Q9BXL6-2; Sequence=VSP_047403; Name=3; Synonyms=Cardless, CARD14cardless, CARMA2cl {ECO:0000303|PubMed:21302310}; IsoId=Q9BXL6-3; Sequence=VSP_047400, VSP_047401, VSP_047402; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm {ECO:0000269|PubMed:21302310}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000269|PubMed:21302310}.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm {ECO:0000269|PubMed:21302310}.


uniprotID: Q07075
geneSymbol: ENPEP
reactome: R-HSA-2022377;
pdb: 4KX7;4KX8;4KX9;4KXA;4KXB;4KXC;4KXD;
length: 957
go: ENSG00000138792;
drug: DB00142;
snps: rs10004516 rs1126483 rs34949711 rs35812243
name:
Glutamyl aminopeptidase (EAP) (EC 3.4.11.7) (Aminopeptidase A) (AP-A) (Differentiation antigen gp160) (CD antigen CD249)

sequence:

opentargets:
apical part of cell [GO:0045177]; apical plasma membrane [GO:0016324]; brush border [GO:0005903]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; lysosomal membrane [GO:0005765]; plasma membrane [GO:0005886]; aminopeptidase activity [GO:0004177]; metalloaminopeptidase activity [GO:0070006]; metallopeptidase activity [GO:0008237]; peptide binding [GO:0042277]; zinc ion binding [GO:0008270]; angiogenesis [GO:0001525]; angiotensin maturation [GO:0002003]; cell migration [GO:0016477]; cell proliferation [GO:0008283]; cell-cell signaling [GO:0007267]; glomerulus development [GO:0032835]; peptide catabolic process [GO:0043171]; proteolysis [GO:0006508]; regulation of systemic arterial blood pressure by renin-angiotensin [GO:0003081]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10692253}; Single-pass type II membrane protein.


uniprotID: P39687
geneSymbol: ANP32A
reactome: R-HSA-450520;
pdb: 2JE0;2JE1;4XOS;
length: 249
go: ENSG00000140350;
name:
Acidic leucine-rich nuclear phosphoprotein 32 family member A (Acidic nuclear phosphoprotein pp32) (pp32) (Leucine-rich acidic nuclear protein) (LANP) (Mapmodulin) (Potent heat-stable protein phosphatase 2A inhibitor I1PP2A) (Putative HLA-DR-associated protein I) (PHAPI)

sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; histone binding [GO:0042393]; RNA binding [GO:0003723]; intracellular signal transduction [GO:0035556]; nucleocytoplasmic transport [GO:0006913]; regulation of mRNA stability [GO:0043488]

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Endoplasmic reticulum. Note=Translocates to the cytoplasm during the process of neuritogenesis (By similarity). Shuttles between nucleus and cytoplasm. {ECO:0000250}.


uniprotID: P16157
geneSymbol: ANK1
reactome: R-HSA-445095;R-HSA-447038;R-HSA-447041;R-HSA-447043;R-HSA-6807878;
pdb: 1N11;2YQF;2YVI;3F59;3KBT;3KBU;3UD1;3UD2;
name: Ankyrin-1 (ANK-1) (Ankyrin-R) (Erythrocyte ankyrin)
length: 1881
go: ENSG00000029534;
snps: rs140085544 rs2304877 rs11778936 rs34523608 rs35213384 rs504465 rs486770 rs10093583 rs1060130
sequence:

opentargets:
axolemma [GO:0030673]; axon initial segment [GO:0043194]; basolateral plasma membrane [GO:0016323]; cytoplasmic side of plasma membrane [GO:0009898]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; M band [GO:0031430]; membrane [GO:0016020]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; sarcolemma [GO:0042383]; sarcoplasmic reticulum [GO:0016529]; spectrin-associated cytoskeleton [GO:0014731]; Z disc [GO:0030018]; ATPase binding [GO:0051117]; cytoskeletal adaptor activity [GO:0008093]; enzyme binding [GO:0019899]; ion channel binding [GO:0044325]; protein phosphatase binding [GO:0019903]; spectrin binding [GO:0030507]; structural constituent of cytoskeleton [GO:0005200]; structural molecule activity [GO:0005198]; cytoskeleton organization [GO:0007010]; ER to Golgi vesicle-mediated transport [GO:0006888]; exocytosis [GO:0006887]; maintenance of epithelial cell apical/basal polarity [GO:0045199]; positive regulation of organelle organization [GO:0010638]; protein localization to plasma membrane [GO:0072659]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=23;  Name=Er1; Synonyms=1, 2.1; IsoId=P16157-1; Sequence=Displayed; Note=Major erythrocyte-specific isoform. Produced by alternative promoter usage.; Name=Er2; Synonyms=2, 2.2; IsoId=P16157-4; Sequence=VSP_018442; Note=Predominant form of minor erythrocyte-specific isoforms. Produced by alternative splicing of isoform Er1.; Name=Er3; Synonyms=3; IsoId=P16157-5; Sequence=VSP_018449; Note=Produced by alternative splicing of isoform Er1.; Name=Er4; Synonyms=4; IsoId=P16157-6; Sequence=VSP_018442, VSP_018449; Note=Produced by alternative splicing of isoform Er1.; Name=Er5; Synonyms=5; IsoId=P16157-3; Sequence=VSP_000266; Note=Produced by alternative splicing of isoform Er1.; Name=Er6; Synonyms=6; IsoId=P16157-7; Sequence=VSP_018442, VSP_000266; Note=Produced by alternative splicing of isoform Er1.; Name=Er7; Synonyms=7; IsoId=P16157-8; Sequence=VSP_018447; Note=Produced by alternative splicing of isoform Er1.; Name=Er8; Synonyms=8; IsoId=P16157-9; Sequence=VSP_018442, VSP_018447; Name=Er9; Synonyms=9; IsoId=P16157-10; Sequence=VSP_018445; Note=Produced by alternative splicing of isoform Er1.; Name=Er10; Synonyms=10; IsoId=P16157-11; Sequence=VSP_018442, VSP_018445; Note=Produced by alternative splicing of isoform Er1.; Name=Er11; Synonyms=11; IsoId=P16157-12; Sequence=VSP_018450; Note=Produced by alternative splicing of isoform Er1.; Name=Er12; Synonyms=12; IsoId=P16157-13; Sequence=VSP_018442, VSP_018450; Note=Produced by alternative splicing of isoform Er1.; Name=Er13; Synonyms=13; IsoId=P16157-14; Sequence=VSP_018451; Note=Produced by alternative splicing of isoform Er1.; Name=Er14; Synonyms=14; IsoId=P16157-15; Sequence=VSP_018442, VSP_018451; Note=Produced by alternative splicing of isoform Er1.; Name=Er15; Synonyms=15; IsoId=P16157-16; Sequence=VSP_018448; Note=Produced by alternative splicing of isoform Er1.; Name=Er16; IsoId=P16157-2; Sequence=VSP_000264, VSP_000265; Note=Produced by alternative splicing of isoform Er1.; Name=Mu17; Synonyms=ank1.5, muscle-specific 1; IsoId=P16157-17; Sequence=VSP_018440, VSP_018443, VSP_000266; Note=Produced by alternative promoter usage. {ECO:0000305}; Name=Mu18; Synonyms=ank1.6, muscle-specific 2; IsoId=P16157-18; Sequence=VSP_018440, VSP_018443, VSP_018448; Note=Produced by alternative splicing of isoform Mu17.; Name=Mu19; Synonyms=muscle-specific 3; IsoId=P16157-19; Sequence=VSP_018440, VSP_018443, VSP_018445; Note=Produced by alternative splicing of isoform Mu17.; Name=Mu20; Synonyms=muscle-specific 4; IsoId=P16157-20; Sequence=VSP_018440, VSP_018444, VSP_018446; Note=Produced by alternative splicing of isoform Mu17.; Name=Br21; IsoId=P16157-21; Sequence=VSP_018439, VSP_018441, VSP_018449; Note=No experimental confirmation available. Produced by alternative splicing of isoform Er1.; Name=22; IsoId=P16157-22; Sequence=VSP_018440, VSP_018443, VSP_045439; Note=Produced by alternative splicing.; Name=23; IsoId=P16157-23; Sequence=VSP_018440, VSP_018443; 

location:
SUBCELLULAR LOCATION: Isoform Er1: Cytoplasm, cytoskeleton. Note=Probably the other erythrocyte (Er) isoforms, are located near the surface of erythrocytic plasma membrane.; SUBCELLULAR LOCATION: Isoform Mu17: Membrane. Cytoplasm, myofibril, sarcomere, M line. Note=Colocalizes with OBSCN isoform 3/obscurin at the M line in differentiated skeletal muscle cells.; SUBCELLULAR LOCATION: Isoform Mu18: Sarcoplasmic reticulum {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform Mu19: Sarcoplasmic reticulum {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform Mu20: Sarcoplasmic reticulum {ECO:0000305}.


uniprotID: Q9BY76
geneSymbol: ANGPTL4
reactome: R-HSA-1989781;R-HSA-381340;R-HSA-8963889;
pdb: 6EUB;
length: 406
go: ENSG00000167772;
name:
Angiopoietin-related protein 4 (Angiopoietin-like protein 4) (Hepatic fibrinogen/angiopoietin-related protein) (HFARP)

sequence:

opentargets:
blood microparticle [GO:0072562]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; enzyme inhibitor activity [GO:0004857]; identical protein binding [GO:0042802]; angiogenesis [GO:0001525]; cell differentiation [GO:0030154]; negative regulation of apoptotic process [GO:0043066]; negative regulation of endothelial cell apoptotic process [GO:2000352]; negative regulation of lipoprotein lipase activity [GO:0051005]; positive regulation of angiogenesis [GO:0045766]; protein homooligomerization [GO:0051260]; regulation of lipid metabolic process [GO:0019216]; response to hypoxia [GO:0001666]; triglyceride homeostasis [GO:0070328]

snps:
rs761583091 rs116843064 rs186754194 rs538554190 rs141831018 rs568624939 rs140640857 rs1008363865 rs77938377 rs201026877 rs768374046 rs376328756 rs1044250 rs35061979 rs150000287 rs775667046 rs751249880 rs139998264 rs140744493 rs780121474 rs1033145581 rs755737249 rs755737249 rs779488814 rs146942305 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BY76-1; Sequence=Displayed; Name=2; IsoId=Q9BY76-2; Sequence=VSP_047045; Note=Gene prediction based on EST data.; Name=3; IsoId=Q9BY76-3; Sequence=VSP_055092; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:10698685}. Secreted, extracellular space, extracellular matrix {ECO:0000250}. Note=The unprocessed form interacts with the extracellular matrix. This may constitute a dynamic reservoir, a regulatory mechanism of the bioavailability of ANGPTL4 (By similarity). {ECO:0000250}.


uniprotID: Q6UXH0
geneSymbol: ANGPTL8
reactome: R-HSA-8963889;
name: Angiopoietin-like protein 8 (Betatrophin) (Lipasin) (Refeeding-induced fat and liver protein)
length: 198
go: ENSG00000130173;
snps: rs2278426 rs34056604
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:23150577, ECO:0000269|PubMed:23623304}.
sequence:
MPVPALCLLWALAMVTRPASAAPMGGPELAQHEELTLLFHGTLQLGQALNGVYRTTEGRLTKARNSLGLYGRTIELLGQEVSRGRDAAQELRASLLETQMEEDILQLQAEATAEVLGEVAQAQKVLRDSVQRLEVQLRSAWLGPAYREFEVLKAHADKQSHILWALTGHVQRQRREMVAQQHRLRQIQERLHTAALPA

opentargets:
extracellular region [GO:0005576]; hormone activity [GO:0005179]; cell maturation [GO:0048469]; cellular lipid metabolic process [GO:0044255]; fat cell differentiation [GO:0045444]; positive regulation of protein processing [GO:0010954]; regulation of lipid metabolic process [GO:0019216]; regulation of lipoprotein lipase activity [GO:0051004]; regulation of lipoprotein metabolic process [GO:0050746]; triglyceride homeostasis [GO:0070328]


uniprotID: Q8N7Z5
geneSymbol: ANKRD31
name: Putative ankyrin repeat domain-containing protein 31
length: 1873
go: ENSG00000145700;
snps: rs1422698 rs6893216 rs961098 rs4489037
sequence:


uniprotID: Q8N283
geneSymbol: ANKRD35
name: Ankyrin repeat domain-containing protein 35
length: 1001
snps: rs6658371 rs6670984 rs41315701 rs16827032
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N283-1; Sequence=Displayed; Name=2; IsoId=Q8N283-2; Sequence=VSP_056916, VSP_056917; Note=No experimental confirmation available.; 


uniprotID: Q8N9V6
geneSymbol: ANKRD53
name: Ankyrin repeat domain-containing protein 53
length: 530
go: ENSG00000144031;
snps: rs35096506 rs17853403 rs36123544 rs11688921 rs3796100
sequence:

opentargets:
cytoplasm [GO:0005737]; spindle [GO:0005819]; spindle pole [GO:0000922]; cell division [GO:0051301]; mitotic metaphase plate congression [GO:0007080]; positive regulation of microtubule polymerization [GO:0031116]; regulation of mitotic cytokinesis [GO:1902412]; regulation of mitotic spindle organization [GO:0060236]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N9V6-1; Sequence=Displayed; Name=2; IsoId=Q8N9V6-2; Sequence=VSP_022768, VSP_022769; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:26820536}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:26820536}. Note=Localizes at the spindle around the centrosome at prophase and prometaphase and at the spindle poles at metaphase and anaphase (PubMed:26820536). {ECO:0000269|PubMed:26820536}.


uniprotID: B4E2M5
geneSymbol: ANKRD66
name: Ankyrin repeat domain-containing protein 66
length: 251
go: ENSG00000230062;
sequence:


uniprotID: P04075
geneSymbol: ALDOA
reactome: R-HSA-114608;R-HSA-6798695;R-HSA-70171;R-HSA-70263;
pdb: 1ALD;2ALD;4ALD;5KY6;
name: Fructose-bisphosphate aldolase A (EC 4.1.2.13) (Lung cancer antigen NY-LU-1) (Muscle-type aldolase)
length: 364
go: ENSG00000149925;
drug: DB08240;
snps: rs11553107 rs121909533 rs11553108 rs121909534 rs138824667
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; ficolin-1-rich granule lumen [GO:1904813]; I band [GO:0031674]; M band [GO:0031430]; membrane [GO:0016020]; nucleus [GO:0005634]; platelet alpha granule lumen [GO:0031093]; secretory granule lumen [GO:0034774]; sperm head [GO:0061827]; tertiary granule lumen [GO:1904724]; actin binding [GO:0003779]; cadherin binding [GO:0045296]; cytoskeletal protein binding [GO:0008092]; fructose binding [GO:0070061]; fructose-bisphosphate aldolase activity [GO:0004332]; identical protein binding [GO:0042802]; RNA binding [GO:0003723]; tubulin binding [GO:0015631]; actin filament organization [GO:0007015]; ATP biosynthetic process [GO:0006754]; binding of sperm to zona pellucida [GO:0007339]; canonical glycolysis [GO:0061621]; fructose 1,6-bisphosphate metabolic process [GO:0030388]; fructose metabolic process [GO:0006000]; gluconeogenesis [GO:0006094]; glycolytic process [GO:0006096]; muscle cell cellular homeostasis [GO:0046716]; neutrophil degranulation [GO:0043312]; platelet degranulation [GO:0002576]; protein homotetramerization [GO:0051289]; regulation of cell shape [GO:0008360]; striated muscle contraction [GO:0006941]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P04075-1; Sequence=Displayed; Name=2; IsoId=P04075-2; Sequence=VSP_047261; 

location:
SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere, I band. Cytoplasm, myofibril, sarcomere, M line. Note=In skeletal muscle, accumulates around the M line and within the I band, colocalizing with FBP2 on both sides of the Z line in the absence of Ca(2+). {ECO:0000250}.


uniprotID: Q6GMV1
geneSymbol: ALG1L
name: Putative glycosyltransferase ALG1-like (EC 2.4.1.-)
length: 187
go: ENSG00000189366;
snps: rs3828357 rs3811679 rs3187686
sequence:
MERSAFMELDAGSRLVMHLREWPALLVSSTGWTEFEQLTLDGHNLPSLVCVITGSVDLGVCLHMSSSGLDLPMKVVDMFGCCLPVCAVNFKCLHELVKHEENGLVFEDSEELAALQMLFSNFPDPAGKLNQFWKNLRESQQLRWDESWVQTVLPLVMDIQLLGQRLKPRDPCCPSRSFFSESQGKPF

opentargets:
endoplasmic reticulum [GO:0005783]; mannosyltransferase activity [GO:0000030]; protein glycosylation [GO:0006486]


uniprotID: Q8N7J2
geneSymbol: AMER2
name: APC membrane recruitment protein 2 (Amer2) (Protein FAM123A)
length: 671
go: ENSG00000165566;
snps: rs2282406
sequence:

opentargets:
plasma membrane [GO:0005886]; beta-catenin binding [GO:0008013]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; ectoderm development [GO:0007398]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; regulation of canonical Wnt signaling pathway [GO:0060828]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N7J2-1; Sequence=Displayed; Name=2; IsoId=Q8N7J2-2; Sequence=VSP_024089; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22128170}; Peripheral membrane protein {ECO:0000269|PubMed:22128170}. Note=Translocates to the cell membrane following binding to PtdIns(4,5)P2.


uniprotID: Q9P2R3
geneSymbol: ANKFY1
length: 1169
go: ENSG00000185722;
name:
Rabankyrin-5 (Rank-5) (Ankyrin repeat and FYVE domain-containing protein 1) (Ankyrin repeats hooked to a zinc finger motif)

sequence:

opentargets:
cytosol [GO:0005829]; early endosome [GO:0005769]; endosome [GO:0005768]; endosome membrane [GO:0010008]; extracellular exosome [GO:0070062]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal membrane [GO:0005765]; macropinosome [GO:0044354]; membrane [GO:0016020]; metal ion binding [GO:0046872]; phosphatidylinositol phosphate binding [GO:1901981]; Rab GTPase binding [GO:0017137]; endocytosis [GO:0006897]; endosomal transport [GO:0016197]; endosomal vesicle fusion [GO:0034058]; Golgi to lysosome transport [GO:0090160]; positive regulation of pinocytosis [GO:0048549]; retrograde transport, endosome to Golgi [GO:0042147]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9P2R3-1; Sequence=Displayed; Name=2; IsoId=Q9P2R3-2; Sequence=VSP_035607; Name=4; IsoId=Q9P2R3-4; Sequence=VSP_041447; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10940552}. Endosome membrane {ECO:0000269|PubMed:10940552}; Peripheral membrane protein {ECO:0000269|PubMed:10940552}. Early endosome {ECO:0000269|PubMed:15328530}. Note=Also associated with endosomal membranes. Localizes to macropinosomes. {ECO:0000269|PubMed:15328530}.


uniprotID: Q96K21
geneSymbol: ZFYVE19
length: 471
go: ENSG00000166140;
snps: rs34819163 rs690347 rs72735636
name:
Abscission/NoCut checkpoint regulator (ANCHR) (MLL partner containing FYVE domain) (Zinc finger FYVE domain-containing protein 19)

sequence:

opentargets:
centrosome [GO:0005813]; cleavage furrow [GO:0032154]; cytoplasm [GO:0005737]; Flemming body [GO:0090543]; midbody [GO:0030496]; metal ion binding [GO:0046872]; phosphatidylinositol-3-phosphate binding [GO:0032266]; abscission [GO:0009838]; cell division [GO:0051301]; mitotic cytokinesis checkpoint [GO:0044878]; negative regulation of cytokinesis [GO:0032466]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96K21-1; Sequence=Displayed; Name=2; IsoId=Q96K21-2; Sequence=VSP_013791; Name=3; IsoId=Q96K21-3; Sequence=VSP_013792; Note=No experimental confirmation available. {ECO:0000244|PubMed:19690332}; Name=4; IsoId=Q96K21-4; Sequence=VSP_046008; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:24814515}. Cleavage furrow {ECO:0000269|PubMed:24814515}. Midbody, Midbody ring {ECO:0000269|PubMed:24814515}. Note=Localizes mainly on centrosomes in interphase and early mitosis. Localizes at the cleavage furrow and midbody ring in late mitosis and cytokinesis. {ECO:0000269|PubMed:24814515}.


uniprotID: E9PGG2
geneSymbol: ANHX
name: Anomalous homeobox protein
length: 379
go: ENSG00000227059;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

opentargets:
nucleus [GO:0005634]; transcription factor complex [GO:0005667]; distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001205]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; anatomical structure development [GO:0048856]; negative regulation of transcription, DNA-templated [GO:0045892]


uniprotID: Q86XS5
geneSymbol: ANGPTL5
name: Angiopoietin-related protein 5 (Angiopoietin-like protein 5)
length: 388
go: ENSG00000187151;
opentargets: extracellular region [GO:0005576]
snps: rs7946238
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:


uniprotID: Q9NU02
geneSymbol: ANKEF1
name: Ankyrin repeat and EF-hand domain-containing protein 1 (Ankyrin repeat domain-containing protein 5)
length: 776
go: ENSG00000132623;
opentargets: calcium ion binding [GO:0005509]
snps: rs7260784 rs652633 rs524625 rs6087119
sequence:


uniprotID: O14744
geneSymbol: PRMT5
reactome: R-HSA-191859;R-HSA-3214858;R-HSA-6804760;
pdb: 4GQB;4X60;4X61;4X63;5C9Z;5EMJ;5EMK;5EML;5EMM;5FA5;6CKC;
length: 637
go: ENSG00000100462;
name:
Protein arginine N-methyltransferase 5 (EC 2.1.1.320) (72 kDa ICln-binding protein) (Histone-arginine N-methyltransferase PRMT5) (Jak-binding protein 1) (Shk1 kinase-binding protein 1 homolog) (SKB1 homolog) (SKB1Hs) [Cleaved into: Protein arginine N-methyltransferase 5, N-terminally processed]

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; histone methyltransferase complex [GO:0035097]; methylosome [GO:0034709]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; E-box binding [GO:0070888]; histone methyltransferase activity (H4-R3 specific) [GO:0044020]; histone-arginine N-methyltransferase activity [GO:0008469]; identical protein binding [GO:0042802]; methyl-CpG binding [GO:0008327]; methyltransferase activity [GO:0008168]; protein heterodimerization activity [GO:0046982]; protein-arginine N-methyltransferase activity [GO:0016274]; protein-arginine omega-N symmetric methyltransferase activity [GO:0035243]; ribonucleoprotein complex binding [GO:0043021]; transcription corepressor activity [GO:0003714]; cell proliferation [GO:0008283]; circadian regulation of gene expression [GO:0032922]; DNA-templated transcription, termination [GO:0006353]; endothelial cell activation [GO:0042118]; Golgi ribbon formation [GO:0090161]; histone arginine methylation [GO:0034969]; histone H4-R3 methylation [GO:0043985]; liver regeneration [GO:0097421]; negative regulation of cell differentiation [GO:0045596]; peptidyl-arginine methylation [GO:0018216]; peptidyl-arginine N-methylation [GO:0035246]; positive regulation of adenylate cyclase-inhibiting dopamine receptor signaling pathway [GO:1904992]; positive regulation of oligodendrocyte differentiation [GO:0048714]; regulation of DNA methylation [GO:0044030]; regulation of ERK1 and ERK2 cascade [GO:0070372]; regulation of mitotic nuclear division [GO:0007088]; regulation of signal transduction by p53 class mediator [GO:1901796]; spliceosomal snRNP assembly [GO:0000387]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Additional isoforms seems to exist. According to EST sequences.; Name=1; IsoId=O14744-1; Sequence=Displayed; Name=2; IsoId=O14744-2; Sequence=VSP_043382; Note=No experimental confirmation available.; Name=4; IsoId=O14744-4; Sequence=VSP_043382, VSP_054768; Note=No experimental confirmation available.; Name=5; IsoId=O14744-5; Sequence=VSP_054685; Note=No experimental confirmation available.; Name=3; IsoId=O14744-3; Sequence=VSP_043382, VSP_054685; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21081503, ECO:0000269|PubMed:21917714, ECO:0000269|PubMed:22269951}. Nucleus {ECO:0000269|PubMed:18404153, ECO:0000269|PubMed:21081503, ECO:0000269|PubMed:21917714, ECO:0000269|PubMed:22269951}. Golgi apparatus {ECO:0000269|PubMed:20421892}.


uniprotID: Q9NQW6
geneSymbol: ANLN
pdb: 2Y7B;4XH3;4XOI;
name: Anillin
length: 1124
go: ENSG00000011426;
snps: rs3735400 rs197367 rs587777741
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; actomyosin contractile ring [GO:0005826]; bleb [GO:0032059]; cell cortex region [GO:0099738]; midbody [GO:0030496]; nucleoplasm [GO:0005654]; actin binding [GO:0003779]; cadherin binding [GO:0045296]; GTP-Rho binding [GO:0017049]; actomyosin contractile ring assembly [GO:0000915]; cortical cytoskeleton organization [GO:0030865]; glomerular visceral epithelial cell migration [GO:0090521]; hematopoietic progenitor cell differentiation [GO:0002244]; mitotic cytokinesis [GO:0000281]; positive regulation of bleb assembly [GO:1904172]; protein localization to mitotic actomyosin contractile ring [GO:1904498]; regulation of exit from mitosis [GO:0007096]; septin ring assembly [GO:0000921]; septin ring organization [GO:0031106]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NQW6-1; Sequence=Displayed; Name=2; IsoId=Q9NQW6-2; Sequence=VSP_017617; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm, cytoskeleton. Cytoplasm, cell cortex {ECO:0000269|PubMed:23870127}. Cell projection, bleb {ECO:0000269|PubMed:23870127}. Note=Mainly found in the nucleus during interphase. Colocalizes with cortical F-actin upon nuclear envelope breakdown in mitosis and subsequently concentrates in the area of the prospective contractile ring in anaphase. This pattern persists until telophase, when the protein becomes concentrated in the midbody.


uniprotID: Q02040
geneSymbol: AKAP17A
length: 695
go: ENSG00000197976;
snps: rs17852504
location: SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:16982639, ECO:0000269|PubMed:19840947}.
name:
A-kinase anchor protein 17A (AKAP-17A) (721P) (B-lymphocyte antigen) (Protein XE7) (Protein kinase A-anchoring protein 17A) (PRKA17A) (Splicing factor, arginine/serine-rich 17A)

sequence:

opentargets:
cytosol [GO:0005829]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; spliceosomal complex [GO:0005681]; protein kinase A binding [GO:0051018]; RNA binding [GO:0003723]; B cell activation [GO:0042113]; mRNA processing [GO:0006397]; regulation of RNA splicing [GO:0043484]; regulation of transcription, DNA-templated [GO:0006355]; RNA splicing [GO:0008380]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q02040-1; Sequence=Displayed; Name=2; IsoId=Q02040-2; Sequence=VSP_004490, VSP_004491; 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=Q02040-3; Sequence=VSP_024947, VSP_024948; Note=No experimental confirmation available.; 


uniprotID: P55789
geneSymbol: GFER
reactome: R-HSA-1268020;
pdb: 3MBG;3O55;3TK0;3U2L;3U2M;3U5S;4LDK;
length: 205
go: ENSG00000127554;
drug: DB03147;
snps: rs36041021 rs121908192
name:
FAD-linked sulfhydryl oxidase ALR (EC 1.8.3.2) (Augmenter of liver regeneration) (hERV1) (Hepatopoietin)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; mitochondrial intermembrane space [GO:0005758]; mitochondrion [GO:0005739]; flavin adenine dinucleotide binding [GO:0050660]; flavin-linked sulfhydryl oxidase activity [GO:0016971]; growth factor activity [GO:0008083]; protein disulfide oxidoreductase activity [GO:0015035]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=HPO-205, lfALR; IsoId=P55789-1; Sequence=Displayed; Name=2; Synonyms=HPO-125, sfALR; IsoId=P55789-2; Sequence=VSP_040393; 

location:
SUBCELLULAR LOCATION: Isoform 1: Mitochondrion intermembrane space. Mitochondrion {ECO:0000269|PubMed:23676665}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Secreted.


uniprotID: P47895
geneSymbol: ALDH1A3
reactome: R-HSA-5365859;
pdb: 5FHZ;
length: 512
go: ENSG00000184254;
drug: DB00157;DB00162;
snps: rs386834230 rs397514652 rs754619607 rs3803430 rs397514653
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9JHW9}.
name:
Aldehyde dehydrogenase family 1 member A3 (EC 1.2.1.5) (Aldehyde dehydrogenase 6) (Retinaldehyde dehydrogenase 3) (RALDH-3) (RalDH3)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; aldehyde dehydrogenase (NAD) activity [GO:0004029]; aldehyde dehydrogenase [NAD(P)+] activity [GO:0004030]; NAD+ binding [GO:0070403]; protein homodimerization activity [GO:0042803]; retinal dehydrogenase activity [GO:0001758]; thyroid hormone binding [GO:0070324]; embryonic camera-type eye development [GO:0031076]; embryonic eye morphogenesis [GO:0048048]; face development [GO:0060324]; Harderian gland development [GO:0070384]; inner ear morphogenesis [GO:0042472]; locomotory behavior [GO:0007626]; neuromuscular process controlling balance [GO:0050885]; nucleus accumbens development [GO:0021768]; olfactory pit development [GO:0060166]; optic cup morphogenesis involved in camera-type eye development [GO:0002072]; positive regulation of apoptotic process [GO:0043065]; protein homotetramerization [GO:0051289]; retinal metabolic process [GO:0042574]; retinoic acid biosynthetic process [GO:0002138]; retinoic acid metabolic process [GO:0042573]; retinol metabolic process [GO:0042572]; righting reflex [GO:0060013]


uniprotID: Q9Y673
geneSymbol: ALG5
reactome: R-HSA-480985;
length: 324
go: ENSG00000120697;
name:
Dolichyl-phosphate beta-glucosyltransferase (DolP-glucosyltransferase) (EC 2.4.1.117) (Asparagine-linked glycosylation protein 5 homolog)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; dolichyl-phosphate beta-glucosyltransferase activity [GO:0004581]; oligosaccharyl transferase activity [GO:0004576]; determination of left/right symmetry [GO:0007368]; protein glycosylation [GO:0006486]; protein N-linked glycosylation [GO:0006487]; protein N-linked glycosylation via asparagine [GO:0018279]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y673-1; Sequence=Displayed; Name=2; IsoId=Q9Y673-2; Sequence=VSP_041019; Note=No experimental confirmation available.; 

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


uniprotID: Q8N6S4
geneSymbol: ANKRD13C
name: Ankyrin repeat domain-containing protein 13C
length: 541
go: ENSG00000118454;
snps: rs17852616
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; perinuclear region of cytoplasm [GO:0048471]; signaling receptor binding [GO:0005102]; protein retention in ER lumen [GO:0006621]; regulation of anoikis [GO:2000209]; regulation of receptor biosynthetic process [GO:0010869]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N6S4-1; Sequence=Displayed; Name=2; IsoId=Q8N6S4-2; Sequence=VSP_019408; Note=No experimental confirmation available.; Name=3; IsoId=Q8N6S4-3; Sequence=VSP_019406, VSP_019407; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:20959461}. Note=Associated with the cytosolic side.


uniprotID: P01019
geneSymbol: AGT
reactome: R-HSA-1989781;R-HSA-2022377;R-HSA-375276;R-HSA-416476;R-HSA-418594;
pdb: 1N9U;1N9V;2JP8;2WXW;2X0B;3CK0;3WOO;3WOR;4AA1;4APH;4FYS;5E2Q;5M3X;5M3Y;
length: 485
go: ENSG00000135744;
drug: DB05206;
location: SUBCELLULAR LOCATION: Secreted.
name:
Angiotensinogen (Serpin A8) [Cleaved into: Angiotensin-1 (Angiotensin 1-10) (Angiotensin I) (Ang I); Angiotensin-2 (Angiotensin 1-8) (Angiotensin II) (Ang II); Angiotensin-3 (Angiotensin 2-8) (Angiotensin III) (Ang III) (Des-Asp[1]-angiotensin II); Angiotensin-4 (Angiotensin 3-8) (Angiotensin IV) (Ang IV); Angiotensin 1-9; Angiotensin 1-7; Angiotensin 1-5; Angiotensin 1-4]

sequence:

opentargets:
blood microparticle [GO:0072562]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; growth factor activity [GO:0008083]; hormone activity [GO:0005179]; receptor ligand activity [GO:0048018]; serine-type endopeptidase inhibitor activity [GO:0004867]; sodium channel regulator activity [GO:0017080]; superoxide-generating NADPH oxidase activator activity [GO:0016176]; type 1 angiotensin receptor binding [GO:0031702]; type 2 angiotensin receptor binding [GO:0031703]; activation of phospholipase C activity [GO:0007202]; aging [GO:0007568]; angiotensin-activated signaling pathway [GO:0038166]; angiotensin-mediated drinking behavior [GO:0003051]; artery smooth muscle contraction [GO:0014824]; associative learning [GO:0008306]; blood vessel remodeling [GO:0001974]; cell growth involved in cardiac muscle cell development [GO:0061049]; cell surface receptor signaling pathway [GO:0007166]; cell-cell signaling [GO:0007267]; cellular response to angiotensin [GO:1904385]; cellular response to mechanical stimulus [GO:0071260]; cellular sodium ion homeostasis [GO:0006883]; cytokine secretion [GO:0050663]; ERK1 and ERK2 cascade [GO:0070371]; female pregnancy [GO:0007565]; fibroblast proliferation [GO:0048144]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway coupled to cGMP nucleotide second messenger [GO:0007199]; kidney development [GO:0001822]; low-density lipoprotein particle remodeling [GO:0034374]; negative regulation of angiogenesis [GO:0016525]; negative regulation of cell growth [GO:0030308]; negative regulation of endopeptidase activity [GO:0010951]; negative regulation of gene expression [GO:0010629]; negative regulation of neurotrophin TRK receptor signaling pathway [GO:0051387]; negative regulation of sodium ion transmembrane transporter activity [GO:2000650]; negative regulation of tissue remodeling [GO:0034104]; nitric oxide mediated signal transduction [GO:0007263]; operant conditioning [GO:0035106]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; positive regulation of activation of Janus kinase activity [GO:0010536]; positive regulation of blood pressure [GO:0045777]; positive regulation of branching involved in ureteric bud morphogenesis [GO:0090190]; positive regulation of cardiac muscle cell apoptotic process [GO:0010666]; positive regulation of cardiac muscle hypertrophy [GO:0010613]; positive regulation of cellular protein metabolic process [GO:0032270]; positive regulation of cholesterol esterification [GO:0010873]; positive regulation of cytokine production [GO:0001819]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of endothelial cell migration [GO:0010595]; positive regulation of epidermal growth factor receptor signaling pathway [GO:0045742]; positive regulation of extracellular matrix constituent secretion [GO:0003331]; positive regulation of extrinsic apoptotic signaling pathway [GO:2001238]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of gap junction assembly [GO:1903598]; positive regulation of glucose import in response to insulin stimulus [GO:2001275]; positive regulation of inflammatory response [GO:0050729]; positive regulation of L-arginine import across plasma membrane [GO:1905589]; positive regulation of L-lysine import across plasma membrane [GO:1905010]; positive regulation of macrophage derived foam cell differentiation [GO:0010744]; positive regulation of membrane hyperpolarization [GO:1902632]; positive regulation of NAD(P)H oxidase activity [GO:0033864]; positive regulation of neuron projection development [GO:0010976]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of nitric oxide biosynthetic process [GO:0045429]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of protein tyrosine kinase activity [GO:0061098]; positive regulation of reactive oxygen species metabolic process [GO:2000379]; positive regulation of renal sodium excretion [GO:0035815]; positive regulation of superoxide anion generation [GO:0032930]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of vascular associated smooth muscle cell migration [GO:1904754]; positive regulation of vascular smooth muscle cell proliferation [GO:1904707]; protein import into nucleus [GO:0006606]; regulation of blood pressure [GO:0008217]; regulation of blood vessel diameter by renin-angiotensin [GO:0002034]; regulation of blood volume by renin-angiotensin [GO:0002016]; regulation of calcium ion transport [GO:0051924]; regulation of cardiac conduction [GO:1903779]; regulation of cell growth [GO:0001558]; regulation of cell proliferation [GO:0042127]; regulation of extracellular matrix assembly [GO:1901201]; regulation of heart rate [GO:0002027]; regulation of lipid metabolic process [GO:0019216]; regulation of long-term neuronal synaptic plasticity [GO:0048169]; regulation of norepinephrine secretion [GO:0014061]; regulation of renal output by angiotensin [GO:0002019]; regulation of renal sodium excretion [GO:0035813]; regulation of transmission of nerve impulse [GO:0051969]; regulation of vasoconstriction [GO:0019229]; renal system process [GO:0003014]; renin-angiotensin regulation of aldosterone production [GO:0002018]; response to estradiol [GO:0032355]; response to muscle activity involved in regulation of muscle adaptation [GO:0014873]; smooth muscle cell proliferation [GO:0048659]; stress-activated MAPK cascade [GO:0051403]; uterine smooth muscle contraction [GO:0070471]; vasodilation [GO:0042311]

snps:
rs41271499 rs11568032 rs2229389 rs34829218 rs4762 rs765678426 rs5041 rs11568053 rs699 rs56073403 rs17856352 rs74315283 rs1805090 


uniprotID: Q9UKU9
geneSymbol: ANGPTL2
name: Angiopoietin-related protein 2 (Angiopoietin-like protein 2)
length: 493
go: ENSG00000136859;
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; signaling receptor binding [GO:0005102]; multicellular organism development [GO:0007275]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UKU9-1; Sequence=Displayed; Name=2; IsoId=Q9UKU9-2; Sequence=VSP_056934; Note=No experimental confirmation available.; 


uniprotID: Q9NR22
geneSymbol: PRMT8
pdb: 4X41;5DST;
length: 394
go: ENSG00000111218;
name:
Protein arginine N-methyltransferase 8 (EC 2.1.1.319) (EC 2.1.1.321) (Heterogeneous nuclear ribonucleoprotein methyltransferase-like protein 4)

sequence:

opentargets:
anchored component of the cytoplasmic side of the plasma membrane [GO:0098753]; cytosol [GO:0005829]; plasma membrane [GO:0005886]; histone-arginine N-methyltransferase activity [GO:0008469]; identical protein binding [GO:0042802]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; protein-arginine omega-N asymmetric methyltransferase activity [GO:0035242]; protein-arginine omega-N monomethyltransferase activity [GO:0035241]; S-adenosyl-L-methionine binding [GO:1904047]; S-adenosylmethionine-dependent methyltransferase activity [GO:0008757]; histone arginine methylation [GO:0034969]; histone methylation [GO:0016571]; peptidyl-arginine methylation [GO:0018216]; peptidyl-arginine methylation, to asymmetrical-dimethyl arginine [GO:0019919]; protein homooligomerization [GO:0051260]; protein methylation [GO:0006479]; regulation of protein binding [GO:0043393]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NR22-1; Sequence=Displayed; Name=2; IsoId=Q9NR22-2; Sequence=VSP_037466; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:16051612, ECO:0000269|PubMed:18320585, ECO:0000269|PubMed:26876602}; Lipid-anchor {ECO:0000269|PubMed:16051612, ECO:0000269|PubMed:18320585, ECO:0000269|PubMed:26876602}; Cytoplasmic side {ECO:0000269|PubMed:16051612, ECO:0000269|PubMed:18320585, ECO:0000269|PubMed:26876602}.


uniprotID: Q9GZV1
geneSymbol: ANKRD2
name: Ankyrin repeat domain-containing protein 2 (Skeletal muscle ankyrin repeat protein) (hArpp)
length: 360
go: ENSG00000165887;
snps: rs7094973
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; euchromatin [GO:0000791]; I band [GO:0031674]; intracellular membrane-bounded organelle [GO:0043231]; nucleus [GO:0005634]; PML body [GO:0016605]; chromatin binding [GO:0003682]; protein kinase B binding [GO:0043422]; RNA polymerase II sequence-specific DNA-binding transcription factor binding [GO:0061629]; structural constituent of muscle [GO:0008307]; titin binding [GO:0031432]; muscle contraction [GO:0006936]; muscle organ development [GO:0007517]; myoblast differentiation [GO:0045445]; negative regulation of myoblast differentiation [GO:0045662]; negative regulation of myotube differentiation [GO:0010832]; negative regulation of transcription by RNA polymerase II [GO:0000122]; regulation of cytokine production [GO:0001817]; regulation of intrinsic apoptotic signaling pathway by p53 class mediator [GO:1902253]; regulation of myoblast proliferation [GO:2000291]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription from RNA polymerase II promoter in response to oxidative stress [GO:0043619]; skeletal muscle cell differentiation [GO:0035914]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9GZV1-1; Sequence=Displayed; Name=2; IsoId=Q9GZV1-2; Sequence=VSP_000269; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere, I band {ECO:0000250}. Cytoplasm, cytosol. Nucleus. Nucleus, PML body. Note=In the sarcoplasm of differentiated striated muscle cells, where it is cytosolic and enriched in the I band. In nucleus and PML bodies of proliferating and undifferentiated myoblasts. Associates with the euchromatin in the nucleus of myocytes upon muscle stress.


uniprotID: P16860
geneSymbol: NPPB
pdb: 1YK1;3N56;
length: 134
go: ENSG00000120937;
drug: DB01136;DB06412;
snps: rs5227 rs5229 rs5230
location: SUBCELLULAR LOCATION: Secreted.
name:
Natriuretic peptides B (Gamma-brain natriuretic peptide) [Cleaved into: Brain natriuretic peptide 32 (BNP(1-32)) (BNP-32); BNP(1-30); BNP(1-29); BNP(1-28); BNP(2-31); BNP(3-32); BNP(3-30); BNP(3-29); BNP(4-32); BNP(4-31); BNP(4-30); BNP(4-29); BNP(4-27); BNP(5-32); BNP(5-31); BNP(5-29)]

sequence:
MDPQTAPSRALLLLLFLHLAFLGGRSHPLGSPGSASDLETSGLQEQRNHLQGKLSELQVEQTSLEPLQESPRPTGVWKSREVATEGIRGHRKMVLYTLRAPRSPKMVQGSGCFGRKMDRISSSSGLGCKVLRRH

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; protein-containing complex [GO:0032991]; diuretic hormone activity [GO:0008613]; hormone activity [GO:0005179]; hormone receptor binding [GO:0051427]; signaling receptor binding [GO:0005102]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; body fluid secretion [GO:0007589]; cell surface receptor signaling pathway [GO:0007166]; cGMP biosynthetic process [GO:0006182]; killing of cells of other organism [GO:0031640]; negative regulation of angiogenesis [GO:0016525]; negative regulation of cell growth [GO:0030308]; positive regulation of renal sodium excretion [GO:0035815]; positive regulation of urine volume [GO:0035810]; protein folding [GO:0006457]; receptor guanylyl cyclase signaling pathway [GO:0007168]; regulation of blood pressure [GO:0008217]; regulation of blood vessel diameter [GO:0097746]; regulation of vascular permeability [GO:0043114]


uniprotID: O60218
geneSymbol: AKR1B10
reactome: R-HSA-975634;
length: 316
go: ENSG00000198074;
drug: DB03461;DB02383;
snps: rs2303312 rs3735042 rs4728329
pdb:
1ZUA;4GA8;4GAB;4GQ0;4GQG;4I5X;4ICC;4JIH;4JII;4WEV;4XZL;4XZM;4XZN;5LIK;5LIU;5LIW;5LIX;5LIY;5M2F;5Y7N;

name:
Aldo-keto reductase family 1 member B10 (EC 1.1.1.-) (ARL-1) (Aldose reductase-like) (Aldose reductase-related protein) (ARP) (hARP) (Small intestine reductase) (SI reductase)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; lysosome [GO:0005764]; mitochondrion [GO:0005739]; alcohol dehydrogenase (NADP+) activity [GO:0008106]; alditol:NADP+ 1-oxidoreductase activity [GO:0004032]; aldo-keto reductase (NADP) activity [GO:0004033]; geranylgeranyl reductase activity [GO:0045550]; indanol dehydrogenase activity [GO:0047718]; oxidoreductase activity [GO:0016491]; retinal dehydrogenase activity [GO:0001758]; daunorubicin metabolic process [GO:0044597]; doxorubicin metabolic process [GO:0044598]; farnesol catabolic process [GO:0016488]; retinoid metabolic process [GO:0001523]

location:
SUBCELLULAR LOCATION: Lysosome {ECO:0000269|PubMed:21585341}. Secreted {ECO:0000269|PubMed:21585341}. Note=Secreted through a lysosome-mediated non-classical pathway.


uniprotID: Q6UX46
geneSymbol: ALKAL2
name: ALK and LTK ligand 2 (Augmentor alpha) (AUG-alpha) (Protein FAM150B)
length: 152
go: ENSG00000189292;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MRGPGHPLLLGLLLVLGAAGRGRGGAEPREPADGQALLRLVVELVQELRKHHSAEHKGLQLLGRDCALGRAEAAGLGPSPEQRVEIVPRDLRMKDKFLKHLTGPLYFSPKCSKHFHRLYHNTRDCTIPAYYKRCARLLTRLAVSPVCMEDKQ

opentargets:
extracellular region [GO:0005576]; receptor signaling protein tyrosine kinase activator activity [GO:0030298]; receptor tyrosine kinase binding [GO:0030971]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of ERK5 cascade [GO:0070378]; positive regulation of neuron projection development [GO:0010976]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6UX46-1; Sequence=Displayed; Name=2; IsoId=Q6UX46-2; Sequence=VSP_037017, VSP_037018; 


uniprotID: Q69YU3
geneSymbol: ANKRD34A
name: Ankyrin repeat domain-containing protein 34A
length: 496
go: ENSG00000272031;
sequence:


uniprotID: P54802
geneSymbol: NAGLU
reactome: R-HSA-2024096;R-HSA-2206282;
pdb: 4XWH;
length: 743
go: ENSG00000108784;
drug: DB00141;
location: SUBCELLULAR LOCATION: Lysosome.
name:
Alpha-N-acetylglucosaminidase (EC 3.2.1.50) (N-acetyl-alpha-glucosaminidase) (NAG) [Cleaved into: Alpha-N-acetylglucosaminidase 82 kDa form; Alpha-N-acetylglucosaminidase 77 kDa form]

sequence:

opentargets:
extracellular exosome [GO:0070062]; lysosomal lumen [GO:0043202]; lysosome [GO:0005764]; alpha-N-acetylglucosaminidase activity [GO:0004561]; cerebellar Purkinje cell layer development [GO:0021680]; glycosaminoglycan catabolic process [GO:0006027]; inner ear receptor cell development [GO:0060119]; locomotor rhythm [GO:0045475]; lysosome organization [GO:0007040]; middle ear morphogenesis [GO:0042474]; nervous system development [GO:0007399]; retinal rod cell development [GO:0046548]

snps:
rs867910252 rs104894599 rs758785463 rs753520553 rs770684838 rs747155746 rs104894601 rs1358994052 rs1305299665 rs104894600 rs749140168 rs768918822 rs368687817 rs796052122 rs574688121 rs768814260 rs114625063 rs375103824 rs200909691 rs104894596 rs773054539 rs992677795 rs104894595 rs104894598 rs104894598 rs104894597 rs148881970 rs104894594 rs104894593 rs527236037 rs746006696 rs763299645 rs104894590 rs86312 


uniprotID: Q8N6M6
geneSymbol: AOPEP
reactome: R-HSA-2022377;
name: Aminopeptidase O (AP-O) (EC 3.4.11.-)
length: 819
go: ENSG00000148120;
snps: rs16911679 rs16911679 rs16911681 rs34557833
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:

opentargets:
cytosol [GO:0005829]; nucleolus [GO:0005730]; aminopeptidase activity [GO:0004177]; metalloaminopeptidase activity [GO:0070006]; metallopeptidase activity [GO:0008237]; zinc ion binding [GO:0008270]; angiotensin maturation [GO:0002003]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8N6M6-1; Sequence=Displayed; Name=2; IsoId=Q8N6M6-2; Sequence=VSP_013161; Name=3; IsoId=Q8N6M6-3; Sequence=VSP_013162, VSP_013163; Note=No experimental confirmation available.; Name=4; IsoId=Q8N6M6-4; Sequence=VSP_013161, VSP_013164, VSP_013165; Note=No experimental confirmation available.; 


uniprotID: Q15327
geneSymbol: ANKRD1
reactome: R-HSA-1989781;
length: 319
go: ENSG00000148677;
snps: rs142354133
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15805281, ECO:0000269|PubMed:7730328}.
name:
Ankyrin repeat domain-containing protein 1 (Cardiac ankyrin repeat protein) (Cytokine-inducible gene C-193 protein) (Cytokine-inducible nuclear protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; fibrillar center [GO:0001650]; I band [GO:0031674]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA binding [GO:0003677]; histone deacetylase binding [GO:0042826]; p53 binding [GO:0002039]; R-SMAD binding [GO:0070412]; RNA polymerase II sequence-specific DNA-binding transcription factor binding [GO:0061629]; RNA polymerase II transcription factor binding [GO:0001085]; titin binding [GO:0031432]; transcription coactivator activity [GO:0003713]; transcription corepressor activity [GO:0003714]; cardiac muscle tissue morphogenesis [GO:0055008]; cellular response to drug [GO:0035690]; cellular response to hypoxia [GO:0071456]; cellular response to interleukin-1 [GO:0071347]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to mechanical stimulus [GO:0071260]; cellular response to organic cyclic compound [GO:0071407]; cellular response to transforming growth factor beta stimulus [GO:0071560]; cellular response to tumor necrosis factor [GO:0071356]; myoblast differentiation [GO:0045445]; negative regulation of DNA biosynthetic process [GO:2000279]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of apoptotic process [GO:0043065]; positive regulation of DNA damage response, signal transduction by p53 class mediator [GO:0043517]; positive regulation of neuron projection development [GO:0010976]; positive regulation of protein secretion [GO:0050714]; regulation of lipid metabolic process [GO:0019216]; regulation of transcription by RNA polymerase II [GO:0006357]; response to muscle stretch [GO:0035994]; sarcomere organization [GO:0045214]; skeletal muscle cell differentiation [GO:0035914]


uniprotID: P12236
geneSymbol: SLC25A6
reactome: R-HSA-1268020;R-HSA-168277;R-HSA-180897;R-HSA-422356;
length: 298
go: ENSG00000169100;
drug: DB00720;
name:
ADP/ATP translocase 3 (ADP,ATP carrier protein 3) (ADP,ATP carrier protein, isoform T2) (ANT 2) (Adenine nucleotide translocator 3) (ANT 3) (Solute carrier family 25 member 6) [Cleaved into: ADP/ATP translocase 3, N-terminally processed]

sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; TIM23 mitochondrial import inner membrane translocase complex [GO:0005744]; adenine transmembrane transporter activity [GO:0015207]; ATP:ADP antiporter activity [GO:0005471]; active induction of host immune response by virus [GO:0046732]; apoptotic process [GO:0006915]; protein targeting to mitochondrion [GO:0006626]; regulation of insulin secretion [GO:0050796]

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein. Note=The complex formed with ARL2BP, ARL2 and SLC25A6 is expressed in mitochondria. {ECO:0000250}.


uniprotID: Q16352
geneSymbol: INA
length: 499
go: ENSG00000148798;
snps: rs1063455 rs1063456
name:
Alpha-internexin (Alpha-Inx) (66 kDa neurofilament protein) (NF-66) (Neurofilament-66) (Neurofilament 5)

sequence:

opentargets:
cytoplasmic ribonucleoprotein granule [GO:0036464]; extracellular space [GO:0005615]; intermediate filament cytoskeleton [GO:0045111]; myelin sheath [GO:0043209]; neurofilament [GO:0005883]; nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; postsynapse [GO:0098794]; Schaffer collateral - CA1 synapse [GO:0098685]; structural constituent of cytoskeleton [GO:0005200]; structural constituent of postsynaptic actin cytoskeleton [GO:0098973]; structural constituent of postsynaptic intermediate filament cytoskeleton [GO:0099184]; cell differentiation [GO:0030154]; cellular response to leukemia inhibitory factor [GO:1990830]; neurofilament cytoskeleton organization [GO:0060052]; substantia nigra development [GO:0021762]


uniprotID: Q96K78
geneSymbol: ADGRG7
name: Adhesion G-protein coupled receptor G7 (G-protein coupled receptor 128)
length: 797
go: ENSG00000144820;
snps: rs1144122 rs16842529 rs9872512
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; G protein-coupled receptor activity [GO:0004930]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; cell surface receptor signaling pathway [GO:0007166]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: Q9BV10
geneSymbol: ALG12
reactome: R-HSA-446193;R-HSA-4720489;
length: 488
go: ENSG00000182858;
snps: rs121907931 rs121907933 rs28942090 rs121907932 rs121907934 rs3922872
name:
Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase (EC 2.4.1.260) (Asparagine-linked glycosylation protein 12 homolog) (hALG12) (Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase) (Mannosyltransferase ALG12 homolog) (Membrane protein SB87)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity [GO:0052917]; mannosyltransferase activity [GO:0000030]; dolichol-linked oligosaccharide biosynthetic process [GO:0006488]; protein folding [GO:0006457]; protein N-linked glycosylation [GO:0006487]


uniprotID: P43353
geneSymbol: ALDH3B1
reactome: R-HSA-1660661;R-HSA-6798695;
name: Aldehyde dehydrogenase family 3 member B1 (EC 1.2.1.5) (Aldehyde dehydrogenase 7)
length: 468
go: ENSG00000006534;
drug: DB00157;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; specific granule membrane [GO:0035579]; vesicle [GO:0031982]; 3-chloroallyl aldehyde dehydrogenase activity [GO:0004028]; aldehyde dehydrogenase (NAD) activity [GO:0004029]; aldehyde dehydrogenase [NAD(P)+] activity [GO:0004030]; alcohol metabolic process [GO:0006066]; aldehyde catabolic process [GO:0046185]; cellular response to oxidative stress [GO:0034599]; ethanol catabolic process [GO:0006068]; lipid metabolic process [GO:0006629]; neutrophil degranulation [GO:0043312]; oxidation-reduction process [GO:0055114]; sphingolipid biosynthetic process [GO:0030148]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P43353-1; Sequence=Displayed; Name=2; IsoId=P43353-2; Sequence=VSP_014040; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23721920}; Lipid-anchor {ECO:0000269|PubMed:23721920}. Note=Primarily in the plasma membrane as well as in some punctate structures in the cytoplasm.


uniprotID: P35858
geneSymbol: IGFALS
reactome: R-HSA-381426;
name: Insulin-like growth factor-binding protein complex acid labile subunit (ALS)
length: 605
go: ENSG00000099769;
location: SUBCELLULAR LOCATION: Secreted, extracellular space.
sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; insulin-like growth factor ternary complex [GO:0042567]; nucleoplasm [GO:0005654]; insulin-like growth factor binding [GO:0005520]; cell adhesion [GO:0007155]; cellular protein metabolic process [GO:0044267]; signal transduction [GO:0007165]

snps:
rs766004600 rs35947557 rs774634302 rs551618643 rs34297640 rs776840046 rs9282730 rs121909247 rs9282731 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P35858-1; Sequence=Displayed; Name=2; IsoId=P35858-2; Sequence=VSP_044605; Note=No experimental confirmation available.; 


uniprotID: Q9BT22
geneSymbol: ALG1
reactome: R-HSA-446193;R-HSA-4549380;
length: 464
go: ENSG00000033011;
name:
Chitobiosyldiphosphodolichol beta-mannosyltransferase (EC 2.4.1.142) (Asparagine-linked glycosylation protein 1 homolog) (Beta-1,4-mannosyltransferase) (GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase) (GDP-mannose-dolichol diphosphochitobiose mannosyltransferase) (Mannosyltransferase-1) (MT-1) (hMat-1)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; chitobiosyldiphosphodolichol beta-mannosyltransferase activity [GO:0004578]; mannosyltransferase activity [GO:0000030]; dolichol-linked oligosaccharide biosynthetic process [GO:0006488]; protein glycosylation [GO:0006486]

snps:
rs794726944 rs200605408 rs201337379 rs794727301 rs121908340 rs28939378 rs17849848 rs151173406 rs17852920 rs267606651 rs886042742 rs398124348 rs1057520122 rs398124349 rs9745522 rs16835020 rs17856919 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BT22-1; Sequence=Displayed; Name=2; IsoId=Q9BT22-2; Sequence=VSP_056931; Note=No experimental confirmation available.; 

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


uniprotID: Q3KRA9
geneSymbol: ALKBH6
length: 238
go: ENSG00000239382;
name:
Alpha-ketoglutarate-dependent dioxygenase alkB homolog 6 (EC 1.14.11.-) (Alkylated DNA repair protein alkB homolog 6)

sequence:

opentargets:
cytoplasm [GO:0005737]; focal adhesion [GO:0005925]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; dioxygenase activity [GO:0051213]; metal ion binding [GO:0046872]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q3KRA9-1; Sequence=Displayed; Name=2; IsoId=Q3KRA9-2; Sequence=VSP_032056; Name=3; IsoId=Q3KRA9-3; Sequence=VSP_032056, VSP_032057; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17979886}. Nucleus {ECO:0000269|PubMed:17979886}.


uniprotID: Q96QP1
geneSymbol: ALPK1
pdb: 5Z2C;
name: Alpha-protein kinase 1 (EC 2.7.11.1) (Chromosome 4 kinase) (Lymphocyte alpha-protein kinase)
length: 1244
go: ENSG00000073331;
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:30111836}.
sequence:

opentargets:
cytosol [GO:0005829]; ATP binding [GO:0005524]; monosaccharide binding [GO:0048029]; protein serine/threonine kinase activity [GO:0004674]; cytoplasmic pattern recognition receptor signaling pathway [GO:0002753]; innate immune response [GO:0045087]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]

snps:
rs33943680 rs6533616 rs34120296 rs147641444 rs2074388 rs13148353 rs35389530 rs35519493 rs2074379 rs11726117 rs2074380 rs34946272 rs35308602 rs2074381 rs34780600 rs34079946 rs34677416 rs35756863 rs55696324 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96QP1-1; Sequence=Displayed; Name=2; IsoId=Q96QP1-2; Sequence=VSP_044735; Note=No experimental confirmation available.; 


uniprotID: Q86TB3
geneSymbol: ALPK2
name: Alpha-protein kinase 2 (EC 2.7.11.-) (Heart alpha-protein kinase)
length: 2170
go: ENSG00000198796;
opentargets: ATP binding [GO:0005524]; protein serine/threonine kinase activity [GO:0004674]
sequence:

snps:
rs6566987 rs9944810 rs12103986 rs3809970 rs3809972 rs3809973 rs3809974 rs3826593 rs4940404 rs3809975 rs3809976 rs34347938 rs35791514 rs3809977 rs3809976 rs3809982 rs3809983 rs33910491 rs34409558 rs17065127 rs7234999 rs33969768 rs17065127 rs7240666 


uniprotID: C9J202
geneSymbol: ALG1L2
name: Putative glycosyltransferase ALG1L2 (EC 2.4.1.-)
length: 215
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; mannosyltransferase activity [GO:0000030]; protein glycosylation [GO:0006486]


uniprotID: Q8NB90
geneSymbol: SPATA5
length: 893
go: ENSG00000145375;
name:
ATPase family protein 2 homolog (EC 3.6.4.10) (Spermatogenesis-associated factor protein) (Spermatogenesis-associated protein 5)

sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; brain development [GO:0007420]; cell differentiation [GO:0030154]; spermatogenesis [GO:0007283]

snps:
rs35430470 rs745858366 rs796051893 rs796051895 rs766034355 rs567175477 rs796052222 rs768528444 rs35133326 rs796051894 rs796051892 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NB90-1; Sequence=Displayed; Name=2; IsoId=Q8NB90-2; Sequence=VSP_033048, VSP_033049; Note=No experimental confirmation available.; Name=3; IsoId=Q8NB90-3; Sequence=VSP_033046, VSP_033047; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q3UMC0}. Mitochondrion {ECO:0000250|UniProtKB:Q3UMC0}.


uniprotID: Q96PN6
geneSymbol: ADCY10
reactome: R-HSA-5610787;
length: 1610
go: ENSG00000143199;
snps: rs16859886 rs2071921
pdb:
4CLF;4CLK;4CLL;4CLP;4CLS;4CLT;4CLU;4CLW;4CLY;4CLZ;4CM0;4CM2;4OYA;4OYB;4OYI;4OYM;4OYO;4OYP;4OYW;4OYX;4OYZ;4OZ2;4OZ3;4UST;4USU;4USV;4USW;5D0R;5IV3;5IV4;

name:
Adenylate cyclase type 10 (EC 4.6.1.1) (AH-related protein) (Adenylate cyclase homolog) (Germ cell soluble adenylyl cyclase) (hsAC) (sAC) (Testicular soluble adenylyl cyclase)

sequence:

opentargets:
apical part of cell [GO:0045177]; basal part of cell [GO:0045178]; cilium [GO:0005929]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; dendrite [GO:0030425]; growth cone [GO:0030426]; mitochondrion [GO:0005739]; neuronal cell body [GO:0043025]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; adenylate cyclase activity [GO:0004016]; ATP binding [GO:0005524]; ATPase binding [GO:0051117]; bicarbonate binding [GO:0071890]; magnesium ion binding [GO:0000287]; manganese ion binding [GO:0030145]; cAMP biosynthetic process [GO:0006171]; cellular response to inorganic substance [GO:0071241]; epithelial cilium movement [GO:0003351]; intracellular signal transduction [GO:0035556]; positive regulation of apoptotic process [GO:0043065]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96PN6-1; Sequence=Displayed; Name=2; IsoId=Q96PN6-2; Sequence=VSP_030867; Note=No experimental confirmation available.; Name=3; IsoId=Q96PN6-3; Sequence=VSP_030866, VSP_030868, VSP_030869, VSP_030870; Note=No experimental confirmation available.; Name=4; IsoId=Q96PN6-4; Sequence=VSP_046329; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15659711}; Peripheral membrane protein {ECO:0000269|PubMed:15659711}; Cytoplasmic side {ECO:0000269|PubMed:15659711}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:12475901, ECO:0000269|PubMed:15659711}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:12475901, ECO:0000269|PubMed:15659711}. Nucleus {ECO:0000269|PubMed:12475901, ECO:0000269|PubMed:15659711}. Cell projection, cilium {ECO:0000269|PubMed:17591988}. Cytoplasm {ECO:0000269|PubMed:12475901}. Mitochondrion {ECO:0000269|PubMed:12475901}. Note=Distributed to subcellular compartments containing cAMP targets. Found as a plasma membrane-associated protein, protein concentrated in the perinuclear region and protein colocalized with actin or tubulin. {ECO:0000269|PubMed:12475901, ECO:0000269|PubMed:15659711}.


uniprotID: Q8TD30
geneSymbol: GPT2
reactome: R-HSA-70614;
pdb: 3IHJ;
length: 523
go: ENSG00000166123;
drug: DB00160;DB00142;DB00780;DB00114;
snps: rs786203999
name:
Alanine aminotransferase 2 (ALT2) (EC 2.6.1.2) (Glutamate pyruvate transaminase 2) (GPT 2) (Glutamic--alanine transaminase 2) (Glutamic--pyruvic transaminase 2)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; L-alanine:2-oxoglutarate aminotransferase activity [GO:0004021]; pyridoxal phosphate binding [GO:0030170]; 2-oxoglutarate metabolic process [GO:0006103]; cellular amino acid biosynthetic process [GO:0008652]; L-alanine catabolic process [GO:0042853]; L-alanine metabolic process [GO:0042851]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TD30-1; Sequence=Displayed; Name=2; IsoId=Q8TD30-2; Sequence=VSP_020008; 


uniprotID: O43918
geneSymbol: AIRE
pdb: 1XWH;2KE1;2KFT;2LRI;
length: 545
go: ENSG00000160224;
name:
Autoimmune regulator (Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein) (APECED protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear body [GO:0016604]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone binding [GO:0042393]; identical protein binding [GO:0042802]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription regulatory region DNA binding [GO:0044212]; translation regulator activity [GO:0045182]; zinc ion binding [GO:0008270]; central tolerance induction to self antigen [GO:0002509]; chemokine production [GO:0032602]; humoral immune response [GO:0006959]; immune response [GO:0006955]; negative thymic T cell selection [GO:0045060]; peripheral T cell tolerance induction [GO:0002458]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of thymocyte migration [GO:2000410]; regulation of transcription, DNA-templated [GO:0006355]; thymus epithelium morphogenesis [GO:0097536]

snps:
rs179363875 rs179363876 rs179363877 rs179363886 rs179363878 rs179363879 rs179363887 rs179363880 rs179363881 rs121434255 rs179363882 rs179363883 rs179363884 rs121434257 rs34397615 rs1800520 rs763636007 rs751066946 rs150634562 rs139808903 rs778929451 rs754932526 rs74162062 rs386833674 rs202027254 rs139874934 rs776951380 rs179363885 rs179363885 rs775921321 rs74162063 rs766901260 rs769470638 rs179363889 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist. Experimental confirmation may be lacking for some isoforms.; Name=1; Synonyms=AIRE-1; IsoId=O43918-1; Sequence=Displayed; Name=2; Synonyms=AIRE-2; IsoId=O43918-2; Sequence=VSP_004089; Name=3; Synonyms=AIRE-3; IsoId=O43918-3; Sequence=VSP_004089, VSP_004090; Name=4; IsoId=O43918-4; Sequence=VSP_004089, VSP_043529; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14974083, ECO:0000269|PubMed:26084028}. Cytoplasm {ECO:0000269|PubMed:11274163, ECO:0000269|PubMed:14974083}. Note=Predominantly nuclear but also cytoplasmic (PubMed:11274163, PubMed:14974083). Found in nuclear body-like structures (dots) and in a filamentous vimentin-like pattern (PubMed:11274163, PubMed:14974083, PubMed:26084028). Associated with tubular structures (PubMed:11274163, PubMed:14974083). {ECO:0000269|PubMed:11274163, ECO:0000269|PubMed:14974083, ECO:0000269|PubMed:26084028}.


uniprotID: Q12802
geneSymbol: AKAP13
reactome: R-HSA-193648;R-HSA-194840;R-HSA-416482;
pdb: 2DRN;2LG1;4D0N;4D0O;6BCA;
length: 2813
go: ENSG00000170776;
name:
A-kinase anchor protein 13 (AKAP-13) (AKAP-Lbc) (Breast cancer nuclear receptor-binding auxiliary protein) (Guanine nucleotide exchange factor Lbc) (Human thyroid-anchoring protein 31) (Lymphoid blast crisis oncogene) (LBC oncogene) (Non-oncogenic Rho GTPase-specific GTP exchange factor) (Protein kinase A-anchoring protein 13) (PRKA13) (p47)

sequence:

opentargets:
actin filament [GO:0005884]; cell cortex [GO:0005938]; cytosol [GO:0005829]; membrane [GO:0016020]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; cAMP-dependent protein kinase activity [GO:0004691]; guanyl-nucleotide exchange factor activity [GO:0005085]; MAP-kinase scaffold activity [GO:0005078]; metal ion binding [GO:0046872]; protein kinase A binding [GO:0051018]; protein-containing complex scaffold activity [GO:0032947]; Rho GTPase binding [GO:0017048]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process [GO:0086023]; adrenergic receptor signaling pathway [GO:0071875]; bone development [GO:0060348]; cardiac muscle cell differentiation [GO:0055007]; cell growth involved in cardiac muscle cell development [GO:0061049]; G protein-coupled receptor signaling pathway [GO:0007186]; heart development [GO:0007507]; nuclear export [GO:0051168]; positive regulation of apoptotic process [GO:0043065]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of Rho protein signal transduction [GO:0035025]; regulation of glucocorticoid mediated signaling pathway [GO:1900169]; regulation of sarcomere organization [GO:0060297]; regulation of small GTPase mediated signal transduction [GO:0051056]

snps:
rs2061821 rs2061822 rs34434221 rs2061824 rs745191 rs7177107 rs4075256 rs4075254 rs4843074 rs4843075 rs7162168 rs35079107 rs2241268 rs2614668 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q12802-1; Sequence=Displayed; Name=2; IsoId=Q12802-2; Sequence=VSP_023490; Name=3; IsoId=Q12802-4; Sequence=VSP_023489, VSP_023491; Name=4; IsoId=Q12802-5; Sequence=VSP_023486, VSP_023487; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:11546812, ECO:0000269|PubMed:9891067}. Cytoplasm {ECO:0000269|PubMed:9627117}. Cytoplasm, cell cortex {ECO:0000269|PubMed:11546812}. Nucleus {ECO:0000269|PubMed:9627117}. Membrane {ECO:0000269|PubMed:11696353, ECO:0000269|PubMed:9891067}; Peripheral membrane protein {ECO:0000269|PubMed:11696353, ECO:0000305|PubMed:9891067}. Note=Colocalizes with the actin cytoskeleton at the cell cortex. {ECO:0000269|PubMed:11546812}.


uniprotID: P84996
geneSymbol: GNAS
name: Protein ALEX (Alternative gene product encoded by XL-exon)
length: 626
sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; plasma membrane [GO:0005886]; ruffle [GO:0001726]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; bone development [GO:0060348]; cognition [GO:0050890]; developmental growth [GO:0048589]; hair follicle placode formation [GO:0060789]; platelet aggregation [GO:0070527]; positive regulation of cold-induced thermogenesis [GO:0120162]; regulation of signal transduction [GO:0009966]

location:
SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein. Cell projection, ruffle {ECO:0000250}. Note=Predominantly associated with cell membrane ruffles. {ECO:0000250}.


uniprotID: Q99217
geneSymbol: AMELX
reactome: R-HSA-381426;R-HSA-8957275;
name: Amelogenin, X isoform
length: 191
go: ENSG00000125363;
snps: rs104894738 rs104894733 rs104894736
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
sequence:
MGTWILFACLLGAAFAMPLPPHPGHPGYINFSYEVLTPLKWYQSIRPPYPSYGYEPMGGWLHHQIIPVLSQQHPPTHTLQPHHHIPVVPAQQPVIPQQPMMPVPGQHSMTPIQHHQPNLPPPAQQPYQPQPVQPQPHQPMQPQPPVHPMQPLPPQPPLPPMFPMQPLPPMLPDLTLEAWPSTDKTKREEVD

opentargets:
cell surface [GO:0009986]; collagen-containing extracellular matrix [GO:0062023]; endocytic vesicle [GO:0030139]; endoplasmic reticulum lumen [GO:0005788]; Golgi apparatus [GO:0005794]; growth factor activity [GO:0008083]; hydroxyapatite binding [GO:0046848]; identical protein binding [GO:0042802]; structural constituent of tooth enamel [GO:0030345]; biomineral tissue development [GO:0031214]; cell adhesion [GO:0007155]; cellular protein metabolic process [GO:0044267]; chondrocyte differentiation [GO:0002062]; enamel mineralization [GO:0070166]; epithelial to mesenchymal transition [GO:0001837]; odontogenesis of dentin-containing tooth [GO:0042475]; osteoblast differentiation [GO:0001649]; positive regulation of collagen biosynthetic process [GO:0032967]; positive regulation of tooth mineralization [GO:0070172]; post-translational protein modification [GO:0043687]; regulation of cell proliferation [GO:0042127]; response to calcium ion [GO:0051592]; response to drug [GO:0042493]; response to nutrient [GO:0007584]; signal transduction [GO:0007165]; tooth mineralization [GO:0034505]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q99217-1; Sequence=Displayed; Name=2; IsoId=Q99217-2; Sequence=VSP_000228; Name=3; Synonyms=Rare; IsoId=Q99217-3; Sequence=VSP_000229; 


uniprotID: P57730
geneSymbol: CARD18
pdb: 1DGN;
name: Caspase recruitment domain-containing protein 18 (Caspase-1 inhibitor Iceberg)
sequence: MADQLLRKKRRIFIHSVGAGTINALLDCLLEDEVISQEDMNKVRDENDTVMDKARVLIDLVTGKGPKSCCKFIKHLCEEDPQLASKMGLH
length: 90
go: ENSG00000255501;
opentargets:
protein-containing complex [GO:0032991]; CARD domain binding [GO:0050700]; caspase binding [GO:0089720]; cysteine-type endopeptidase inhibitor activity [GO:0004869]; inflammatory response [GO:0006954]; inhibition of cysteine-type endopeptidase activity [GO:0097340]; negative regulation of interleukin-1 beta secretion [GO:0050713]; negative regulation of protein binding [GO:0032091]; regulation of apoptotic process [GO:0042981]


uniprotID: Q16853
geneSymbol: AOC3
reactome: R-HSA-211945;
pdb: 1PU4;1US1;2C10;2C11;2Y73;2Y74;3ALA;4BTW;4BTX;4BTY;
length: 763
go: ENSG00000131471;
drug: DB04334;DB01275;DB00780;
name:
Membrane primary amine oxidase (EC 1.4.3.21) (Copper amine oxidase) (HPAO) (Semicarbazide-sensitive amine oxidase) (SSAO) (Vascular adhesion protein 1) (VAP-1)

sequence:

opentargets:
cell surface [GO:0009986]; cytoplasm [GO:0005737]; early endosome [GO:0005769]; endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; microvillus [GO:0005902]; plasma membrane [GO:0005886]; aliphatic-amine oxidase activity [GO:0052595]; aminoacetone:oxygen oxidoreductase(deaminating) activity [GO:0052594]; calcium ion binding [GO:0005509]; copper ion binding [GO:0005507]; phenethylamine:oxygen oxidoreductase (deaminating) activity [GO:0052596]; primary amine oxidase activity [GO:0008131]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; quinone binding [GO:0048038]; tryptamine:oxygen oxidoreductase (deaminating) activity [GO:0052593]; amine metabolic process [GO:0009308]; cell adhesion [GO:0007155]; inflammatory response [GO:0006954]; negative regulation of primary amine oxidase activity [GO:1902283]; response to antibiotic [GO:0046677]; xenobiotic metabolic process [GO:0006805]

snps:
rs33954211 rs402680 rs2228470 rs408038 rs630079 rs438287 rs2229595 rs35097308 rs35643019 rs33986943 rs2229596 rs34987927 rs477207 rs34012919 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q16853-1; Sequence=Displayed; Name=2; Synonyms=VAP-1Delta3; IsoId=Q16853-2; Sequence=VSP_053751, VSP_053752; Note=Devoid of the semicarbazide-sensitive amine oxidase (SSAO) activity.; Name=3; IsoId=Q16853-3; Sequence=VSP_055201; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:9653080}; Single-pass type II membrane protein {ECO:0000269|PubMed:9653080}.


uniprotID: Q92482
geneSymbol: AQP3
reactome: R-HSA-432040;R-HSA-432047;
name: Aquaporin-3 (AQP-3) (Aquaglyceroporin-3)
length: 292
go: ENSG00000165272;
snps: rs34942735
sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; cell-cell junction [GO:0005911]; cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; glycerol channel activity [GO:0015254]; transporter activity [GO:0005215]; water channel activity [GO:0015250]; cellular response to hypoxia [GO:0071456]; cellular response to oxygen-glucose deprivation [GO:0090650]; excretion [GO:0007588]; odontogenesis [GO:0042476]; positive regulation of immune system process [GO:0002684]; regulation of keratinocyte differentiation [GO:0045616]; renal water absorption [GO:0070295]; renal water homeostasis [GO:0003091]; response to calcium ion [GO:0051592]; response to retinoic acid [GO:0032526]; response to vitamin D [GO:0033280]; urea transport [GO:0015840]; water transport [GO:0006833]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92482-1; Sequence=Displayed; Name=2; Synonyms=delta5; IsoId=Q92482-2; Sequence=VSP_003229, VSP_003230; Note=Due to a polymorphism at the 5'-splice donor site of intron 5, leading to exon 5 skipping and premature termination of translation. This is the molecular basis of the GIL blood group.; 

location:
SUBCELLULAR LOCATION: Basolateral cell membrane; Multi-pass membrane protein. Note=In collecting ducts of kidney.


uniprotID: Q92747
geneSymbol: ARPC1A
reactome: R-HSA-2029482;R-HSA-3928662;R-HSA-5663213;R-HSA-8856828;
name: Actin-related protein 2/3 complex subunit 1A (SOP2-like protein)
length: 370
go: ENSG00000241685;
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; Arp2/3 protein complex [GO:0005885]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleus [GO:0005634]; site of double-strand break [GO:0035861]; actin binding [GO:0003779]; actin filament binding [GO:0051015]; actin cytoskeleton organization [GO:0030036]; Arp2/3 complex-mediated actin nucleation [GO:0034314]; ephrin receptor signaling pathway [GO:0048013]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; membrane organization [GO:0061024]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92747-1; Sequence=Displayed; Name=2; IsoId=Q92747-2; Sequence=VSP_056389, VSP_056390; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:8978670}. Nucleus {ECO:0000250|UniProtKB:Q8AVT9}.


uniprotID: P51636
geneSymbol: CAV2
name: Caveolin-2
length: 162
go: ENSG00000105971;
snps: rs8940
sequence:
MGLETEKADVQLFMDDDSYSHHSGLEYADPEKFADSDQDRDPHRLNSHLKLGFEDVIAEPVTTHSFDKVWICSHALFEISKYVMYKFLTVFLAIPLAFIAGILFATLSCLHIWILMPFVKTCLMVLPSVQTIWKSVTDVIIAPLCTSVGRCFSSVSLQLSQD

opentargets:
acrosomal membrane [GO:0002080]; caveola [GO:0005901]; cytoplasmic vesicle [GO:0031410]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; focal adhesion [GO:0005925]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; membrane raft [GO:0045121]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; transport vesicle [GO:0030133]; D1 dopamine receptor binding [GO:0031748]; protein binding, bridging [GO:0030674]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; protein-containing complex scaffold activity [GO:0032947]; scaffold protein binding [GO:0097110]; structural molecule activity [GO:0005198]; caveola assembly [GO:0070836]; cell differentiation [GO:0030154]; endoplasmic reticulum organization [GO:0007029]; insulin receptor signaling pathway [GO:0008286]; mitochondrion organization [GO:0007005]; negative regulation of endothelial cell proliferation [GO:0001937]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; positive regulation by host of viral process [GO:0044794]; positive regulation by host of viral release from host cell [GO:0044791]; positive regulation of dopamine receptor signaling pathway [GO:0060161]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of GTPase activity [GO:0043547]; positive regulation of MAPK cascade [GO:0043410]; protein complex oligomerization [GO:0051259]; receptor-mediated endocytosis of virus by host cell [GO:0019065]; regulation of mitotic nuclear division [GO:0007088]; skeletal muscle fiber development [GO:0048741]; vesicle docking [GO:0048278]; vesicle fusion [GO:0006906]; vesicle organization [GO:0016050]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=3;  Name=Alpha; IsoId=P51636-1; Sequence=Displayed; Name=Beta; IsoId=P51636-2; Sequence=VSP_018696; Note=Produced by alternative initiation.; Name=C; IsoId=P51636-3; Sequence=VSP_038114, VSP_038115; Note=Produced by alternative splicing.; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Golgi apparatus membrane; Peripheral membrane protein. Cell membrane; Peripheral membrane protein. Membrane, caveola; Peripheral membrane protein. Note=Potential hairpin-like structure in the membrane. Membrane protein of caveolae. Tyr-19-phosphorylated form is enriched at sites of cell-cell contact and is translocated to the nucleus in complex with MAPK1 in response to insulin (By similarity). Tyr-27-phosphorylated form is located both in the cytoplasm and plasma membrane. CAV1-mediated Ser-23-phosphorylated form locates to the plasma membrane. Ser-36-phosphorylated form resides in intracellular compartments. {ECO:0000250}.


uniprotID: Q96LS8
geneSymbol: C2orf48
name: Uncharacterized protein C2orf48
length: 159
snps: rs13406078 rs7423163
sequence:
MESRPSGRQHASEGDGDQSPTQCAGMRSSGRSDQPYVLKGNPLLLRVRCYSGCASGSGRQLQLSVFQDLNQFSHCRVWRSPALIVKGEPPWCSQQDTQSPFQTGTPLERPCFRMKLSGWELTKNAQRALGSKLQHILSLDSTQACGAGGPTILRPPRAP


uniprotID: Q08AI8
geneSymbol: C2orf54
name: Uncharacterized protein C2orf54
length: 447
go: ENSG00000172478;
snps: rs4359646 rs6707568
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q08AI8-1; Sequence=Displayed; Name=2; IsoId=Q08AI8-2; Sequence=VSP_025680, VSP_025681; Name=3; IsoId=Q08AI8-3; Sequence=VSP_025679, VSP_025682; Note=No experimental confirmation available.; 


uniprotID: Q6UXQ4
geneSymbol: C2orf66
name: Uncharacterized protein C2orf66
length: 117
go: ENSG00000187944;
opentargets: extracellular region [GO:0005576]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MIIDSSRIPSFTQLHSTMTRAPLLLLCVALVLLGHVNGATVRNEDKWKPLNNPRNRDLFFRRLQAYFKGRGLDLGTFPNPFPTNENPRPLSFQSELTASASADYEEQKNSFHNYLKG


uniprotID: Q2NKX9
geneSymbol: C2orf68
name: UPF0561 protein C2orf68
length: 166
go: ENSG00000168887;
sequence:
MEAGPHPRPGHCCKPGGRLDMNHGFVHHIRRNQIARDDYDKKVKQAAKEKVRRRHTPAPTRPRKPDLQVYLPRHRDVSAHPRNPDYEESGESSSSGGSELEPSGHQLFCLEYEADSGEVTSVIVYQGDDPGKVSEKVSAHTPLDPPMREALKLRIQEEIAKRQSQH

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q2NKX9-1; Sequence=Displayed; Name=2; IsoId=Q2NKX9-3; Sequence=VSP_032792, VSP_032793; Note=No experimental confirmation available.; 


uniprotID: A6NN90
geneSymbol: C2orf81
name: Uncharacterized protein C2orf81
length: 582
sequence:


uniprotID: P0DPF5
geneSymbol: C2orf27A
name: Uncharacterized protein C2orf27A
length: 203
sequence:


uniprotID: P0DPF6
geneSymbol: C2orf27B
name: Uncharacterized protein C2orf27B
length: 209
sequence:


uniprotID: Q9H9S4
geneSymbol: CAB39L
reactome: R-HSA-380972;
pdb: 3ZHP;
name: Calcium-binding protein 39-like (Antigen MLAA-34) (MO25beta) (Mo25-like protein)
length: 337
go: ENSG00000102547;
sequence:

opentargets:
cytosol [GO:0005829]; intracellular [GO:0005622]; cell cycle arrest [GO:0007050]; signal transduction by protein phosphorylation [GO:0023014]


uniprotID: Q8N350
geneSymbol: CBARP
name: Voltage-dependent calcium channel beta subunit-associated regulatory protein
length: 705
go: ENSG00000099625;
sequence:

opentargets:
cell junction [GO:0030054]; growth cone [GO:0030426]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; secretory granule [GO:0030141]; synaptic vesicle membrane [GO:0030672]; ion channel binding [GO:0044325]; negative regulation of calcium ion transmembrane transport [GO:1903170]; negative regulation of calcium ion-dependent exocytosis [GO:0045955]; negative regulation of voltage-gated calcium channel activity [GO:1901386]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N350-3; Sequence=Displayed; Note=Gene prediction based on EST data.; Name=2; IsoId=Q8N350-4; Sequence=VSP_058134, VSP_058135; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250|UniProtKB:Q66L44}; Single-pass type III membrane protein {ECO:0000250|UniProtKB:Q66L44}. Cell membrane {ECO:0000250|UniProtKB:Q66L44}; Single-pass type III membrane protein {ECO:0000250|UniProtKB:Q66L44}. Cell projection, growth cone {ECO:0000250|UniProtKB:Q66L44}.


uniprotID: Q92888
geneSymbol: ARHGEF1
reactome: R-HSA-193648;R-HSA-194840;R-HSA-416482;
pdb: 1IAP;1SHZ;3AB3;3ODO;3ODW;3ODX;3P6A;
length: 912
go: ENSG00000076928;
snps: rs2303797
name:
Rho guanine nucleotide exchange factor 1 (115 kDa guanine nucleotide exchange factor) (p115-RhoGEF) (p115RhoGEF) (Sub1.5)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; plasma membrane [GO:0005886]; G protein-coupled receptor binding [GO:0001664]; GTPase activator activity [GO:0005096]; guanyl-nucleotide exchange factor activity [GO:0005085]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; RNA binding [GO:0003723]; cell proliferation [GO:0008283]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of apoptotic process [GO:0043065]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]; Rho protein signal transduction [GO:0007266]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q92888-1; Sequence=Displayed; Name=2; IsoId=Q92888-2; Sequence=VSP_008125; Note=No experimental confirmation available.; Name=3; IsoId=Q92888-3; Sequence=VSP_037766; Note=No experimental confirmation available.; Name=4; IsoId=Q92888-4; Sequence=VSP_037766, VSP_008125, VSP_057289; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10747909}. Membrane {ECO:0000269|PubMed:10747909}. Note=Translocated to the membrane by activated GNA13 or LPA stimulation.


uniprotID: Q8TER5
geneSymbol: ARHGEF40
reactome: R-HSA-193648;R-HSA-194840;R-HSA-416482;
name: Rho guanine nucleotide exchange factor 40 (Protein SOLO)
length: 1519
go: ENSG00000165801;
snps: rs7143633 rs1958396 rs943992 rs17855344
sequence:

opentargets:
cytoplasm [GO:0005737]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; regulation of Rho protein signal transduction [GO:0035023]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8TER5-1; Sequence=Displayed; Name=2; IsoId=Q8TER5-2; Sequence=VSP_030381; Note=No experimental confirmation available.; Name=3; IsoId=Q8TER5-3; Sequence=VSP_030382; Note=No experimental confirmation available.; Name=4; IsoId=Q8TER5-4; Sequence=VSP_030383; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16143467}. Note=Concentrated in the perinuclear region.


uniprotID: Q9NX46
geneSymbol: ADPRHL2
reactome: R-HSA-110362;
pdb: 2FOZ;2FP0;2G4K;5ZQY;6D36;6D3A;
length: 363
go: ENSG00000116863;
snps: rs2236387
name:
Poly(ADP-ribose) glycohydrolase ARH3 (EC 3.2.1.143) (ADP-ribosylhydrolase 3) ([Protein ADP-ribosylarginine] hydrolase-like protein 2)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; poly(ADP-ribose) glycohydrolase activity [GO:0004649]; cellular response to superoxide [GO:0071451]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16278211}. Mitochondrion matrix {ECO:0000269|PubMed:17991898, ECO:0000305|PubMed:22433848}. Nucleus {ECO:0000269|PubMed:17991898}.


uniprotID: Q7Z628
geneSymbol: NET1
reactome: R-HSA-193648;R-HSA-194840;R-HSA-416482;
pdb: 3EO2;4XH9;
length: 596
go: ENSG00000173848;
snps: rs34658946
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.
name:
Neuroepithelial cell-transforming gene 1 protein (Proto-oncogene p65 Net1) (Rho guanine nucleotide exchange factor 8)

sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; guanyl-nucleotide exchange factor activity [GO:0005085]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to ionizing radiation [GO:0071479]; G protein-coupled receptor signaling pathway [GO:0007186]; intracellular signal transduction [GO:0035556]; myoblast migration [GO:0051451]; positive regulation of apoptotic process [GO:0043065]; positive regulation of GTPase activity [GO:0043547]; regulation of cell growth [GO:0001558]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z628-1; Sequence=Displayed; Name=2; IsoId=Q7Z628-2; Sequence=VSP_011619, VSP_011620; 


uniprotID: P08185
geneSymbol: SERPINA6
pdb: 2VDX;2VDY;4BB2;4C41;4C49;
name: Corticosteroid-binding globulin (CBG) (Serpin A6) (Transcortin)
length: 405
go: ENSG00000170099;
snps: rs113418909 rs2228541 rs28929488
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; serine-type endopeptidase inhibitor activity [GO:0004867]; steroid binding [GO:0005496]; glucocorticoid metabolic process [GO:0008211]; negative regulation of endopeptidase activity [GO:0010951]

drug:
DB00240;DB00394;DB01410;DB05688;DB00663;DB00180;DB00591;DB01047;DB00324;DB00846;DB00588;DB00741;DB00253;DB00648;DB01384;DB00860;DB00896;DB00620;DB00596;


uniprotID: O94989
geneSymbol: ARHGEF15
reactome: R-HSA-193648;R-HSA-194840;R-HSA-416482;
name: Rho guanine nucleotide exchange factor 15 (Ephexin-5) (E5) (Vsm-RhoGEF)
length: 841
go: ENSG00000198844;
snps: rs9890841 rs17857129 rs871841 rs587777166 rs3744647
sequence:

opentargets:
cytoplasm [GO:0005737]; dendrite [GO:0030425]; GTPase activator activity [GO:0005096]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; negative regulation of synapse maturation [GO:2000297]; positive regulation of stress fiber assembly [GO:0051496]; regulation of catalytic activity [GO:0050790]; regulation of Rho protein signal transduction [GO:0035023]; retina vasculature morphogenesis in camera-type eye [GO:0061299]

location:
SUBCELLULAR LOCATION: Cell projection, dendrite {ECO:0000250}. Note=Expressed exclusively in dendrites of the developing hippocampus. {ECO:0000250}.


uniprotID: Q5VV41
geneSymbol: ARHGEF16
reactome: R-HSA-193648;R-HSA-194840;R-HSA-416482;
pdb: 1X6B;
name: Rho guanine nucleotide exchange factor 16 (Ephexin-4)
length: 709
go: ENSG00000130762;
snps: rs3806164 rs2185639 rs56309807
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:

opentargets:
cytosol [GO:0005829]; cadherin binding [GO:0045296]; guanyl-nucleotide exchange factor activity [GO:0005085]; PDZ domain binding [GO:0030165]; receptor tyrosine kinase binding [GO:0030971]; Rho GTPase binding [GO:0017048]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; activation of GTPase activity [GO:0090630]; cell chemotaxis [GO:0060326]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of apoptotic process [GO:0043065]; positive regulation of protein localization to plasma membrane [GO:1903078]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5VV41-1; Sequence=Displayed; Name=2; IsoId=Q5VV41-2; Sequence=VSP_018149; 


uniprotID: Q6ZSZ5
geneSymbol: ARHGEF18
reactome: R-HSA-193648;R-HSA-194840;R-HSA-2173791;R-HSA-416482;
length: 1361
go: ENSG00000104880;
snps: rs987233144 rs2287918 rs2287920 rs9329368
name:
Rho guanine nucleotide exchange factor 18 (114 kDa Rho-specific guanine nucleotide exchange factor) (p114-Rho-GEF) (p114RhoGEF) (Septin-associated RhoGEF) (SA-RhoGEF)

sequence:

opentargets:
apical part of cell [GO:0045177]; apical plasma membrane [GO:0016324]; cell junction [GO:0030054]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; plasma membrane [GO:0005886]; guanyl-nucleotide exchange factor activity [GO:0005085]; metal ion binding [GO:0046872]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; actin cytoskeleton organization [GO:0030036]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of apoptotic process [GO:0043065]; regulation of cell shape [GO:0008360]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]; small GTPase mediated signal transduction [GO:0007264]; transforming growth factor beta receptor signaling pathway [GO:0007179]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=LOCGEF-X3 {ECO:0000303|PubMed:29601110}; IsoId=Q6ZSZ5-4; Sequence=Displayed; Name=2; Synonyms=LOCGEF-X4 {ECO:0000303|PubMed:29601110}; IsoId=Q6ZSZ5-5; Sequence=VSP_059877; Name=3; Synonyms=LOCGEF-X5 {ECO:0000303|PubMed:29601110}; IsoId=Q6ZSZ5-6; Sequence=VSP_059876; Name=4; Synonyms=p114 {ECO:0000303|PubMed:29601110}; IsoId=Q6ZSZ5-2; Sequence=VSP_059874; Name=5; IsoId=Q6ZSZ5-1; Sequence=VSP_059875; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15558029}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:15558029}. Cell membrane {ECO:0000269|PubMed:29601110}. Apical cell membrane {ECO:0000269|PubMed:22006950}. Note=In unactivated eosinophils, distributed around the cell periphery in the perimembranous region (PubMed:29601110). In activated eosinophils, relocates to the tip of the nucleopod, a membrane structure formed during activation when the nucleus moves to one end of the cell, and is also concentrated in membrane protrusions at the opposite end of the cell (PubMed:29601110). Localizes to the apical cell membrane in epithelial cells (PubMed:22006950). {ECO:0000269|PubMed:22006950, ECO:0000269|PubMed:29601110}.


uniprotID: Q86VW2
geneSymbol: ARHGEF25
reactome: R-HSA-416476;
pdb: 2RGN;
length: 580
go: ENSG00000240771;
snps: rs17857333 rs17854492 rs1564374
name:
Rho guanine nucleotide exchange factor 25 (Guanine nucleotide exchange factor GEFT) (Rac/Cdc42/Rho exchange factor GEFT) (RhoA/Rac/Cdc42 guanine nucleotide exchange factor GEFT) (p63RhoGEF)

sequence:

opentargets:
cytosol [GO:0005829]; myofibril [GO:0030016]; plasma membrane [GO:0005886]; sarcomere [GO:0030017]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; G protein-coupled receptor signaling pathway [GO:0007186]; regulation of Rho protein signal transduction [GO:0035023]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86VW2-1; Sequence=Displayed; Name=2; Synonyms=p63RhoGef; IsoId=Q86VW2-2; Sequence=VSP_031875; Name=3; IsoId=Q86VW2-3; Sequence=VSP_047254; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}. Cytoplasm, myofibril, sarcomere {ECO:0000269|PubMed:11861769}. Note=Highly colocalizes with actin regions.


uniprotID: Q8NDY3
geneSymbol: ADPRHL1
name: [Protein ADP-ribosylarginine] hydrolase-like protein 1 (EC 3.2.-.-) (ADP-ribosylhydrolase 2)
length: 354
go: ENSG00000153531;
snps: rs9577273
sequence:

opentargets:
ADP-ribosylarginine hydrolase activity [GO:0003875]; magnesium ion binding [GO:0000287]; protein de-ADP-ribosylation [GO:0051725]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NDY3-1; Sequence=Displayed; Name=2; IsoId=Q8NDY3-2; Sequence=VSP_023036; 


uniprotID: Q8N7S6
geneSymbol: ARIH2OS
name: Uncharacterized protein ARIH2OS (Ariadne-2 homolog opposite strand protein)
length: 290
go: ENSG00000221883;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q99856
geneSymbol: ARID3A
reactome: R-HSA-6804116;
pdb: 2KK0;4LJX;
length: 593
go: ENSG00000116017;
snps: rs17857499 rs17857501 rs1051505
name:
AT-rich interactive domain-containing protein 3A (ARID domain-containing protein 3A) (B-cell regulator of IgH transcription) (Bright) (Dead ringer-like protein 1) (E2F-binding protein 1)

sequence:

opentargets:
cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; membrane raft [GO:0045121]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein homodimerization activity [GO:0042803]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00355, ECO:0000269|PubMed:17400556}. Cytoplasm {ECO:0000269|PubMed:17400556}. Note=Shuttles between nucleus and cytoplasm.


uniprotID: Q9Y4B4
geneSymbol: RAD54L2
name: Helicase ARIP4 (EC 3.6.4.12) (Androgen receptor-interacting protein 4) (RAD54-like protein 2)
length: 1467
go: ENSG00000164080;
snps: rs35712917
sequence:

opentargets:
nucleus [GO:0005634]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; helicase activity [GO:0004386]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Note=Localizes in speckle-like nuclear compartments. {ECO:0000250}.


uniprotID: Q4LE39
geneSymbol: ARID4B
reactome: R-HSA-3214815;R-HSA-427413;
length: 1312
go: ENSG00000054267;
name:
AT-rich interactive domain-containing protein 4B (ARID domain-containing protein 4B) (180 kDa Sin3-associated polypeptide) (Sin3-associated polypeptide p180) (Breast cancer-associated antigen BRCAA1) (Histone deacetylase complex subunit SAP180) (Retinoblastoma-binding protein 1-like 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone deacetylase activity [GO:0004407]; transcription regulatory region DNA binding [GO:0044212]; establishment of Sertoli cell barrier [GO:0097368]; histone H3-K9 trimethylation [GO:0036124]; histone H4-K20 trimethylation [GO:0034773]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of gene expression by genetic imprinting [GO:0006349]; regulation of transcription by RNA polymerase II [GO:0006357]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q4LE39-1; Sequence=Displayed; Name=2; IsoId=Q4LE39-2; Sequence=VSP_024231; Name=3; IsoId=Q4LE39-3; Sequence=VSP_024234, VSP_024235; Name=4; IsoId=Q4LE39-4; Sequence=VSP_024230, VSP_024232, VSP_024233; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00355}. Cytoplasm {ECO:0000269|PubMed:11481388, ECO:0000269|PubMed:15247124}. Note=Cytoplasmic in breast cancer cells. {ECO:0000269|PubMed:15247124}.


uniprotID: O43488
geneSymbol: AKR7A2
reactome: R-HSA-5423646;
pdb: 2BP1;
length: 359
go: ENSG00000053371;
snps: rs6670759 rs1043657 rs859208 rs859210 rs2231200 rs2235794 rs2231203
location: SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000250}. Cytoplasm {ECO:0000269|PubMed:9576847}.
name:
Aflatoxin B1 aldehyde reductase member 2 (EC 1.1.1.n11) (AFB1 aldehyde reductase 1) (AFB1-AR 1) (Aldoketoreductase 7) (Succinic semialdehyde reductase) (SSA reductase)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; alditol:NADP+ 1-oxidoreductase activity [GO:0004032]; aldo-keto reductase (NADP) activity [GO:0004033]; electron transfer activity [GO:0009055]; phenanthrene-9,10-epoxide hydrolase activity [GO:0019119]; carbohydrate metabolic process [GO:0005975]; cellular aldehyde metabolic process [GO:0006081]; daunorubicin metabolic process [GO:0044597]; doxorubicin metabolic process [GO:0044598]; xenobiotic metabolic process [GO:0006805]


uniprotID: Q0P5N6
geneSymbol: ARL16
name: ADP-ribosylation factor-like protein 16
length: 197
go: ENSG00000214087;
opentargets: intracellular [GO:0005622]; GTP binding [GO:0005525]
snps: rs8066889
sequence:
MRVAGGRALSRGAELRVPGGAKHGMCLLLGATGVGKTLLVKRLQEVSSRDGKGDLGEPPPTRPTVGTNLTDIVAQRKITIRELGGCMGPIWSSYYGNCRSLLFVMDASDPTQLSASCVQLLGLLSAEQLAEASVLILFNKIDLPCYMSTEEMKSLIRLPDIIACAKQNITTAEISAREGTGLAGVLAWLQATHRAND


uniprotID: Q8IVW1
geneSymbol: ARL17A; ARL17B
name: ADP-ribosylation factor-like protein 17 (ADP-ribosylation factor 7 variant)
length: 177
go: ENSG00000185829;ENSG00000228696;
location: SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000250}.
sequence:
MGNIFEKLFKSLLGKKKMRILILSLDTAGKTTILYKLKLGETVPAVPTVGFCVETVEYKNNTFAVWDVGSHFKIRPLWQHFFQNTKGARSPGSTHQGSLASGVLPIKCSHVEFGMWKGGRSHPFLPHSSRCAGSGGQLDSILPHQSPAWGPWGCKDLSSGFPSFLTSSILWKSAVVK

opentargets:
Golgi apparatus [GO:0005794]; GTP binding [GO:0005525]; protein transport [GO:0015031]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IVW1-1; Sequence=Displayed; Name=2; IsoId=Q8IVW1-2; Sequence=VSP_008753; Name=4; IsoId=Q8IVW1-4; Sequence=VSP_008756; Note=No experimental confirmation available.; 


uniprotID: Q8N4G2
geneSymbol: ARL14
name: ADP-ribosylation factor-like protein 14 (ADP-ribosylation factor 7)
length: 192
go: ENSG00000179674;
snps: rs35634980 rs35633732
sequence:
MGSLGSKNPQTKQAQVLLLGLDSAGKSTLLYKLKLAKDITTIPTIGFNVEMIELERNLSLTVWDVGGQEKMRTVWGCYCENTDGLVYVVDSTDKQRLEESQRQFEHILKNEHIKNVPVVLLANKQDMPGALTAEDITRMFKVKKLCSDRNWYVQPCCALTGEGLAQGFRKLTGFVKSHMKSRGDTLAFFKQN

opentargets:
cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; plasma membrane [GO:0005886]; GTP binding [GO:0005525]; intracellular protein transport [GO:0006886]; vesicle-mediated transport [GO:0016192]

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle {ECO:0000269|PubMed:21458045}. Note=Colocalizes with MHC II-containing cytoplasmic vesicles.


uniprotID: P56559
geneSymbol: ARL4C
length: 192
go: ENSG00000188042;
location: SUBCELLULAR LOCATION: Cell projection, filopodium. Cell membrane. Cytoplasm.
name:
ADP-ribosylation factor-like protein 4C (ADP-ribosylation factor-like protein 7) (ADP-ribosylation factor-like protein LAK)

sequence:
MGNISSNISAFQSLHIVMLGLDSAGKTTVLYRLKFNEFVNTVPTIGFNTEKIKLSNGTAKGISCHFWDVGGQEKLRPLWKSYSRCTDGIIYVVDSVDVDRLEEAKTELHKVTKFAENQGTPLLVIANKQDLPKSLPVAEIEKQLALHELIPATTYHVQPACAIIGEGLTEGMDKLYEMILKRRKSLKQKKKR

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; filopodium [GO:0030175]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; alpha-tubulin binding [GO:0043014]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; endocytic recycling [GO:0032456]; intracellular protein transport [GO:0006886]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P56559-1; Sequence=Displayed; Name=2; IsoId=P56559-2; Sequence=VSP_055120; 


uniprotID: Q6T311
geneSymbol: ARL9
name: ADP-ribosylation factor-like protein 9
length: 187
go: ENSG00000196503;
opentargets: intracellular [GO:0005622]; GTP binding [GO:0005525]
sequence:
MRPTWKALSHPAWPEEKNKQILVLGLDGAGKTSVLHSLASNRVQHSVAPTQGFHAVCINTEDSQMEFLEIGGSKPFRSYWEMYLSKGLLLIFVVDSADHSRLPEAKKYLHQLIAANPVLPLVVFANKQDLEAAYHITDIHEALALSEVGNDRKMFLFGTYLTKNGSEIPSTMQDAKDLIAQLAADVQ

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6T311-1; Sequence=Displayed; Name=2; IsoId=Q6T311-2; Sequence=VSP_055413; Note=No experimental confirmation available.; 


uniprotID: A6NH57
geneSymbol: ARL5C
name: Putative ADP-ribosylation factor-like protein 5C (ADP-ribosylation factor-like protein 12)
length: 179
sequence:
MGQLIAKLMSIFGNQEHTVIIVGLDNEGKTTILYRFLTNEVVHMCPTIGSNVEEIILPKTHFFMWDIVRPEALSFIWNTYYSNTEFIILVIDSTDRDRLLTTREELYKMLAHEALQDASVLIFANKQDVKDSMRMVEISHFLTLSTIKDHSWHIQGCCALTREGLPARLQWMESQAAAN

opentargets:
cytoplasm [GO:0005737]; trans-Golgi network [GO:0005802]; GTP binding [GO:0005525]; intracellular protein transport [GO:0006886]; protein localization to Golgi membrane [GO:1903292]; vesicle-mediated transport [GO:0016192]


uniprotID: Q5W041
geneSymbol: ARMC3
length: 872
go: ENSG00000165309;
opentargets: extracellular exosome [GO:0070062]
snps: rs16922864 rs11013233 rs10828395
name:
Armadillo repeat-containing protein 3 (Beta-catenin-like protein) (Cancer/testis antigen 81) (CT81) (KU-CT-1)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=ARMC3_Nu1, KU-CT-1L; IsoId=Q5W041-2; Sequence=Displayed; Name=3; Synonyms=ARMC3_Nu2; IsoId=Q5W041-3; Sequence=VSP_024500, VSP_024501; Name=4; IsoId=Q5W041-4; Sequence=VSP_024498; Note=No experimental confirmation available.; Name=5; Synonyms=KU-CT-1; IsoId=Q5W041-5; Sequence=VSP_028551, VSP_028552; 


uniprotID: Q96C12
geneSymbol: ARMC5
name: Armadillo repeat-containing protein 5
length: 935
go: ENSG00000140691;
opentargets: cytoplasm [GO:0005737]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; nucleoplasm [GO:0005654]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24283224}.
sequence:

snps:
rs151069962 rs199693319 rs114930262 rs35923277 rs35461188 rs587777663 rs552657393 rs200054015 rs142376949 rs587777661 rs587777662 rs370836071 rs200951744 rs115611533 rs587777659 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96C12-1; Sequence=Displayed; Note=Gene prediction based on EST data.; Name=2; IsoId=Q96C12-2; Sequence=VSP_024505; Note=No experimental confirmation available.; Name=3; IsoId=Q96C12-3; Sequence=VSP_024505, VSP_024507; Name=4; IsoId=Q96C12-4; Sequence=VSP_024506, VSP_024508; Note=No experimental confirmation available.; 


uniprotID: Q6NXE6
geneSymbol: ARMC6
name: Armadillo repeat-containing protein 6
length: 501
go: ENSG00000105676;
opentargets: cytosol [GO:0005829]; hematopoietic progenitor cell differentiation [GO:0002244]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6NXE6-1; Sequence=Displayed; Name=2; IsoId=Q6NXE6-2; Sequence=VSP_040103; Note=Gene prediction based on EST data.; 


uniprotID: Q9H6L4
geneSymbol: ARMC7
name: Armadillo repeat-containing protein 7
length: 198
go: ENSG00000125449;
sequence:
MAQKPKVDPHVGRLGYLQALVTEFQETQSQDAKEQVLANLANFAYDPSNYEYLRQLQVLDLFLDSLSEENETLVEFAIGGLCNLCPDRANKEHILHAGGVPLIINCLSSPNEETVLSAITTLMHLSPPGRSFLPELTATPVVQCMLRFSLSASARLRNLAQIFLEDFCSPRQVAEARSRQAHSALGIPLPRSVAPRQR

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H6L4-1; Sequence=Displayed; Name=2; IsoId=Q9H6L4-2; Sequence=VSP_056936, VSP_056937; Note=No experimental confirmation available.; 


