# annotation

uniprotID: P51685
geneSymbol: CCR8
reactome: R-HSA-380108;R-HSA-418594;
length: 355
go: ENSG00000179934;
snps: rs2853699
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
C-C chemokine receptor type 8 (C-C CKR-8) (CC-CKR-8) (CCR-8) (CC chemokine receptor CHEMR1) (CMKBRL2) (Chemokine receptor-like 1) (CKR-L1) (GPR-CY6) (GPRCY6) (TER1) (CD antigen CDw198)

sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; C-C chemokine binding [GO:0019957]; C-C chemokine receptor activity [GO:0016493]; chemokine binding [GO:0019956]; chemokine receptor activity [GO:0004950]; coreceptor activity [GO:0015026]; calcium-mediated signaling [GO:0019722]; cell adhesion [GO:0007155]; cell chemotaxis [GO:0060326]; chemotaxis [GO:0006935]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; positive regulation of cytosolic calcium ion concentration [GO:0007204]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P51685-1; Sequence=Displayed; Name=2; IsoId=P51685-2; Sequence=VSP_056340; Note=No experimental confirmation available.; 


uniprotID: P51686
geneSymbol: CCR9
reactome: R-HSA-380108;R-HSA-418594;
pdb: 5LWE;
length: 369
go: ENSG00000173585;
drug: DB05005;
snps: rs45530037 rs12721497
name:
C-C chemokine receptor type 9 (C-C CKR-9) (CC-CKR-9) (CCR-9) (G-protein coupled receptor 28) (GPR-9-6) (CD antigen CDw199)

sequence:

opentargets:
cell surface [GO:0009986]; external side of plasma membrane [GO:0009897]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; C-C chemokine binding [GO:0019957]; C-C chemokine receptor activity [GO:0016493]; chemokine binding [GO:0019956]; chemokine receptor activity [GO:0004950]; calcium-mediated signaling [GO:0019722]; CD8-positive, gamma-delta intraepithelial T cell differentiation [GO:0002305]; cell chemotaxis [GO:0060326]; cellular defense response [GO:0006968]; chemotaxis [GO:0006935]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; positive regulation of cytosolic calcium ion concentration [GO:0007204]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=CCR9A; IsoId=P51686-1; Sequence=Displayed; Name=2; Synonyms=CCR9B; IsoId=P51686-2; Sequence=VSP_020286; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305|PubMed:27926729}; Multi-pass membrane protein {ECO:0000305|PubMed:27926729}.


uniprotID: P15848
geneSymbol: ARSB
reactome: R-HSA-1660662;R-HSA-1663150;R-HSA-2024101;R-HSA-2206285;R-HSA-6798695;
pdb: 1FSU;
name: Arylsulfatase B (ASB) (EC 3.1.6.12) (N-acetylgalactosamine-4-sulfatase) (G4S)
length: 533
go: ENSG00000113273;
sequence:

opentargets:
azurophil granule lumen [GO:0035578]; cell surface [GO:0009986]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; Golgi apparatus [GO:0005794]; lysosomal lumen [GO:0043202]; lysosome [GO:0005764]; mitochondrion [GO:0005739]; rough endoplasmic reticulum [GO:0005791]; arylsulfatase activity [GO:0004065]; metal ion binding [GO:0046872]; N-acetylgalactosamine-4-sulfatase activity [GO:0003943]; autophagy [GO:0006914]; central nervous system development [GO:0007417]; chondroitin sulfate catabolic process [GO:0030207]; colon epithelial cell migration [GO:0061580]; lysosomal transport [GO:0007041]; lysosome organization [GO:0007040]; neutrophil degranulation [GO:0043312]; positive regulation of neuron projection development [GO:0010976]; regulation of epithelial cell migration [GO:0010632]; response to estrogen [GO:0043627]; response to methylmercury [GO:0051597]; response to nutrient [GO:0007584]; response to pH [GO:0009268]

snps:
rs751010538 rs118203942 rs775780931 rs118203939 rs118203938 rs746206847 rs991104525 rs1196325597 rs118203943 rs118203940 rs779378413 rs727503809 rs1065757 rs1065757 rs1071598 rs25414 rs118203944 rs200793396 rs118203941 rs201101343 rs774358117 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P15848-1; Sequence=Displayed; Name=2; IsoId=P15848-2; Sequence=VSP_042721; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Lysosome {ECO:0000250|UniProtKB:P50429}. Cell surface {ECO:0000250|UniProtKB:P50429}.


uniprotID: P51689
geneSymbol: ARSD
reactome: R-HSA-1660662;R-HSA-1663150;
name: Arylsulfatase D (ASD) (EC 3.1.6.-)
length: 593
go: ENSG00000006756;
snps: rs211653 rs2229557 rs2228431
location: SUBCELLULAR LOCATION: Lysosome {ECO:0000305}.
sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; lysosome [GO:0005764]; arylsulfatase activity [GO:0004065]; metal ion binding [GO:0046872]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P51689-1; Sequence=Displayed; Name=2; Synonyms=Beta; IsoId=P51689-2; Sequence=VSP_015798, VSP_015799; Name=3; Synonyms=Alpha; IsoId=P51689-3; Sequence=VSP_035667; 


uniprotID: Q6UWY0
geneSymbol: ARSK
reactome: R-HSA-1660662;R-HSA-1663150;
name: Arylsulfatase K (ASK) (EC 3.1.6.-) (Telethon sulfatase)
length: 536
go: ENSG00000164291;
snps: rs17084927
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; arylsulfatase activity [GO:0004065]; metal ion binding [GO:0046872]


uniprotID: Q5FYB0
geneSymbol: ARSJ
reactome: R-HSA-1660662;R-HSA-1663150;
name: Arylsulfatase J (ASJ) (EC 3.1.6.-)
length: 599
go: ENSG00000180801;
snps: rs17046588
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; arylsulfatase activity [GO:0004065]; metal ion binding [GO:0046872]


uniprotID: Q9H2C2
geneSymbol: ARV1
reactome: R-HSA-191273;
name: Protein ARV1 (hARV1)
length: 271
go: ENSG00000173409;
snps: rs35764859 rs730882241
sequence:

opentargets:
cortical endoplasmic reticulum [GO:0032541]; endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; sterol transporter activity [GO:0015248]; bile acid metabolic process [GO:0008206]; cholesterol biosynthetic process [GO:0006695]; cholesterol transport [GO:0030301]; intracellular sterol transport [GO:0032366]; regulation of cholesterol metabolic process [GO:0090181]; regulation of intracellular cholesterol transport [GO:0032383]; regulation of plasma membrane sterol distribution [GO:0097036]; sphingolipid metabolic process [GO:0006665]; sterol metabolic process [GO:0016125]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:20663892}; Multi-pass membrane protein {ECO:0000305}.


uniprotID: P18440
geneSymbol: NAT1
reactome: R-HSA-156582;
pdb: 2DSS;2GWU;2IJA;2PQT;
length: 290
go: ENSG00000171428;
drug: DB01015;
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Arylamine N-acetyltransferase 1 (EC 2.3.1.5) (Arylamide acetylase 1) (Monomorphic arylamine N-acetyltransferase) (MNAT) (N-acetyltransferase type 1) (NAT-1)

sequence:

opentargets:
cytosol [GO:0005829]; arylamine N-acetyltransferase activity [GO:0004060]; xenobiotic metabolic process [GO:0006805]

snps:
rs56379106 rs55641436 rs4987076 rs72554608 rs4986782 rs72554609 rs4987195 rs4986783 rs56172717 rs72554610 rs72554611 


uniprotID: Q96QS3
geneSymbol: ARX
name: Homeobox protein ARX (Aristaless-related homeobox)
length: 562
go: ENSG00000004848;
snps: rs28936077 rs28935479 rs111033612 rs104894745 rs104894741 rs104894743 rs746120093
sequence:

opentargets:
nucleus [GO:0005634]; chromatin binding [GO:0003682]; distal enhancer DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001206]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; axon guidance [GO:0007411]; cell proliferation in forebrain [GO:0021846]; cerebral cortex GABAergic interneuron migration [GO:0021853]; cerebral cortex tangential migration [GO:0021800]; embryonic olfactory bulb interneuron precursor migration [GO:0021831]; epithelial cell fate commitment [GO:0072148]; globus pallidus development [GO:0021759]; lipid digestion [GO:0044241]; positive regulation of gene expression [GO:0010628]; positive regulation of organ growth [GO:0046622]; regulation of cell proliferation [GO:0042127]

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


uniprotID: P0C7U1
geneSymbol: ASAH2B
length: 165
go: ENSG00000204147;
name:
Putative inactive neutral ceramidase B (ASAH2-like protein) (Putative inactive N-acylsphingosine amidohydrolase 2B) (Putative inactive non-lysosomal ceramidase B)

sequence:
MRQHRQFMDRTHYLLTFSSSETLLRLLLRIVDRAPKGRTFGDVLQPAKPEYRVGEVAEVIFVGANPKNSVQNQTHQTFLTVEKYEATSTSWQIVCNDASWETRFYWHKGLLGLSNATVEWHIPDTAQPGIYRIRYFGHNRKQDILKPAVILSFEGTSPAFEVVTI

opentargets:
extracellular region [GO:0005576]; N-acylsphingosine amidohydrolase activity [GO:0017040]; ceramide catabolic process [GO:0046514]; long-chain fatty acid biosynthetic process [GO:0042759]; sphingosine biosynthetic process [GO:0046512]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P0C7U1-1; Sequence=Displayed; Name=2; IsoId=P0C7U1-2; Sequence=VSP_056938; Note=No experimental confirmation available.; 


uniprotID: Q8TBH0
geneSymbol: ARRDC2
name: Arrestin domain-containing protein 2
length: 407
go: ENSG00000105643;
opentargets: cytoplasmic vesicle [GO:0031410]; plasma membrane [GO:0005886]
snps: rs17852061 rs17852062 rs8110271 rs7259041
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TBH0-1; Sequence=Displayed; Name=2; IsoId=Q8TBH0-2; Sequence=VSP_019544; 


uniprotID: Q96NS5
geneSymbol: ASB16
reactome: R-HSA-8951664;R-HSA-983168;
name: Ankyrin repeat and SOCS box protein 16 (ASB-16)
length: 453
go: ENSG00000161664;
snps: rs7224330
sequence:

opentargets:
cytosol [GO:0005829]; intracellular signal transduction [GO:0035556]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]


uniprotID: Q8WXJ9
geneSymbol: ASB17
reactome: R-HSA-8951664;R-HSA-983168;
name: Ankyrin repeat and SOCS box protein 17 (ASB-17)
length: 295
go: ENSG00000154007;
snps: rs3795251 rs1796814
sequence:


uniprotID: O43150
geneSymbol: ASAP2
length: 1006
go: ENSG00000151693;
snps: rs2715860
name:
Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 (Development and differentiation-enhancing factor 2) (Paxillin-associated protein with ARF GAP activity 3) (PAG3) (Pyk2 C-terminus-associated protein) (PAP)

sequence:

opentargets:
Golgi cisterna membrane [GO:0032580]; plasma membrane [GO:0005886]; GTPase activator activity [GO:0005096]; metal ion binding [GO:0046872]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=PAPalpha; IsoId=O43150-1; Sequence=Displayed; Name=2; Synonyms=PAPbeta; IsoId=O43150-2; Sequence=VSP_009722; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Golgi apparatus, Golgi stack membrane; Peripheral membrane protein. Cell membrane; Peripheral membrane protein. Note=Colocalizes with F-actin and ARF6 in phagocytic cups.


uniprotID: Q8TDY4
geneSymbol: ASAP3
pdb: 2B0O;3LVQ;3LVR;
length: 903
go: ENSG00000088280;
snps: rs16828486
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14654939}.
name:
Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 (Development and differentiation-enhancing factor-like 1) (Protein up-regulated in liver cancer 1)

sequence:

opentargets:
cytosol [GO:0005829]; focal adhesion [GO:0005925]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; ruffle [GO:0001726]; GTPase activator activity [GO:0005096]; metal ion binding [GO:0046872]; cell migration [GO:0016477]; positive regulation of GTPase activity [GO:0043547]; regulation of stress fiber assembly [GO:0051492]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8TDY4-1; Sequence=Displayed; Name=2; IsoId=Q8TDY4-2; Sequence=VSP_018013; Note=No experimental confirmation available.; Name=3; IsoId=Q8TDY4-3; Sequence=VSP_039827; Note=No experimental confirmation available.; 


uniprotID: Q8WXI3
geneSymbol: ASB10
reactome: R-HSA-8951664;R-HSA-983168;
name: Ankyrin repeat and SOCS box protein 10 (ASB-10)
length: 467
go: ENSG00000146926;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; intracellular signal transduction [GO:0035556]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]

snps:
rs151344615 rs104886491 rs151344616 rs104886488 rs151344617 rs104886490 rs147737381 rs151344619 rs151344604 rs151344605 rs104886473 rs151344607 rs104886474 rs61735708 rs140602973 rs151344609 rs61735130 rs151344610 rs104886481 rs104886482 rs151344611 rs151344612 rs62489646 rs919533 rs104886487 rs3800791 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8WXI3-1; Sequence=Displayed; Name=2; IsoId=Q8WXI3-2; Sequence=VSP_023357; Name=3; IsoId=Q8WXI3-3; Sequence=VSP_038997; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22156576}. Nucleus {ECO:0000269|PubMed:22156576}. Note=In the ciliary body, it is detected in the cytoplasm and perinuclear region of the pigmented ciliary epithelial layer. In the retina, it is detected in the nuclei of retinal ganglion cells.


uniprotID: Q8WXK4
geneSymbol: ASB12
reactome: R-HSA-8951664;R-HSA-983168;
name: Ankyrin repeat and SOCS box protein 12 (ASB-12)
length: 309
go: ENSG00000198881;
sequence:

opentargets:
cytosol [GO:0005829]; ubiquitin ligase complex [GO:0000151]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WXK4-1; Sequence=Displayed; Name=2; IsoId=Q8WXK4-2; Sequence=VSP_044865; Note=No experimental confirmation available.; 


uniprotID: Q9NWX5
geneSymbol: ASB6
reactome: R-HSA-8951664;R-HSA-983168;
name: Ankyrin repeat and SOCS box protein 6 (ASB-6)
length: 421
go: ENSG00000148331;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NWX5-1; Sequence=Displayed; Name=2; IsoId=Q9NWX5-2; Sequence=VSP_042006; Note=No experimental confirmation available.; 


uniprotID: Q9NQ33
geneSymbol: ASCL3
length: 180
snps: rs4909951
location: SUBCELLULAR LOCATION: Nucleus.
name:
Achaete-scute homolog 3 (ASH-3) (hASH3) (Class A basic helix-loop-helix protein 42) (bHLHa42) (bHLH transcriptional regulator Sgn-1)

sequence:
MDNRGNSSLPDKLPIFPDSARLPLTRSFYLEPMVTFHVHPEAPVSSPYSEELPRLPFPSDSLILGNYSEPCPFSFPMPYPNYRGCEYSYGPAFTRKRNERERQRVKCVNEGYAQLRHHLPEEYLEKRLSKVETLRAAIKYINYLQSLLYPDKAETKNNPGKVSSMIATTSHHADPMFRIV

opentargets:
RNA polymerase II transcription factor complex [GO:0090575]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; protein dimerization activity [GO:0046983]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription factor binding [GO:0008134]; negative regulation of transcription by RNA polymerase II [GO:0000122]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: P46597
geneSymbol: ASMT
reactome: R-HSA-209931;
pdb: 4A6D;4A6E;
name: Acetylserotonin O-methyltransferase (EC 2.1.1.4) (Hydroxyindole O-methyltransferase) (HIOMT)
length: 345
go: ENSG00000196433;
drug: DB01065;
sequence:

opentargets:
cytosol [GO:0005829]; acetylserotonin O-methyltransferase activity [GO:0017096]; identical protein binding [GO:0042802]; O-methyltransferase activity [GO:0008171]; protein homodimerization activity [GO:0042803]; S-adenosylmethionine-dependent methyltransferase activity [GO:0008757]; S-methyltransferase activity [GO:0008172]; aromatic compound biosynthetic process [GO:0019438]; indolalkylamine biosynthetic process [GO:0046219]; melatonin biosynthetic process [GO:0030187]; translation [GO:0006412]

snps:
rs121918819 rs17149149 rs121918823 rs117343570 rs201053197 rs192710293 rs373339042 rs121918820 rs121918824 rs201316181 rs148036160 rs121918825 rs121918826 rs146121655 rs121918827 rs121918821 rs121918828 rs121918822 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P46597-1; Sequence=Displayed; Name=2; IsoId=P46597-2; Sequence=VSP_004285; Name=3; IsoId=P46597-3; Sequence=VSP_004284; Note=Includes part of a LINE-1 element. {ECO:0000305}; 


uniprotID: A6ND91
geneSymbol: ASPDH
length: 283
go: ENSG00000204653;
snps: rs12977172
name:
Putative L-aspartate dehydrogenase (EC 1.4.1.21) (Aspartate dehydrogenase domain-containing protein)

sequence:

opentargets:
aspartate dehydrogenase activity [GO:0033735]; NADP binding [GO:0050661]; NAD biosynthetic process [GO:0009435]; NADP catabolic process [GO:0006742]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A6ND91-1; Sequence=Displayed; Name=2; IsoId=A6ND91-2; Sequence=VSP_038742, VSP_038743; 


uniprotID: Q9P0M2
geneSymbol: AKAP7
pdb: 4ZP3;5JJ2;
length: 348
go: ENSG00000118507;
snps: rs7771473 rs1190788
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Cytoplasm {ECO:0000269|PubMed:10613906}.
name:
A-kinase anchor protein 7 isoform gamma (AKAP-7 isoform gamma) (A-kinase anchor protein 18 kDa) (AKAP 18) (Protein kinase A-anchoring protein 7 isoform gamma) (PRKA7 isoform gamma)

sequence:

opentargets:
cytosol [GO:0005829]; hippocampal mossy fiber to CA3 synapse [GO:0098686]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; nucleotide binding [GO:0000166]; protein kinase A binding [GO:0051018]; protein kinase A regulatory subunit binding [GO:0034237]; protein kinase binding [GO:0019901]; modulation of chemical synaptic transmission [GO:0050804]; regulation of protein kinase A signaling [GO:0010738]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional isoforms seem to exist.; Name=Gamma; IsoId=Q9P0M2-1; Sequence=Displayed; Name=Alpha; IsoId=O43687-2; Sequence=External; Name=Beta; IsoId=O43687-1; Sequence=External; 


uniprotID: Q9UM73
geneSymbol: ALK
name: ALK tyrosine kinase receptor (EC 2.7.10.1) (Anaplastic lymphoma kinase) (CD antigen CD246)
length: 1620
go: ENSG00000171094;
drug: DB00171;DB11363;DB09063;DB08865;
pdb:
2KUP;2KUQ;2XB7;2XBA;2XP2;2YFX;2YHV;2YJR;2YJS;2YS5;2YT2;3AOX;3L9P;3LCS;3LCT;4ANL;4ANQ;4ANS;4CCB;4CCU;4CD0;4CLI;4CLJ;4CMO;4CMT;4CMU;4CNH;4CTB;4CTC;4DCE;4FNW;4FNX;4FNY;4FNZ;4FOB;4FOC;4FOD;4JOA;4MKC;4TT7;4Z55;5A9U;5AA8;5AA9;5AAA;5AAB;5AAC;5FTO;5FTQ;5IMX;5IUG;5IUH;5IUI;5J7H;5KZ0;6AT9;

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; receptor complex [GO:0043235]; ATP binding [GO:0005524]; identical protein binding [GO:0042802]; NF-kappaB-inducing kinase activity [GO:0004704]; protein tyrosine kinase activity [GO:0004713]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; activation of MAPK activity [GO:0000187]; adult behavior [GO:0030534]; cell differentiation [GO:0030154]; cell proliferation [GO:0008283]; hippocampus development [GO:0021766]; negative regulation of apoptotic process [GO:0043066]; negative regulation of signal transduction [GO:0009968]; neuron development [GO:0048666]; phosphorylation [GO:0016310]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; protein autophosphorylation [GO:0046777]; regulation of apoptotic process [GO:0042981]; regulation of cell proliferation [GO:0042127]; regulation of dopamine receptor signaling pathway [GO:0060159]; response to environmental enrichment [GO:0090648]; signal transduction [GO:0007165]; swimming behavior [GO:0036269]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]

snps:
rs34617074 rs55697431 rs56077855 rs35093491 rs35228363 rs34829159 rs55941323 rs746442213 rs35073634 rs864309584 rs55760835 rs113994088 rs113994091 rs1057520019 rs1057519698 rs1057519697 rs281864719 rs863225281 rs281864719 rs113994089 rs863225283 rs281864720 rs113994092 rs45502292 rs113994087 rs863225285 rs56160491 rs17694720 rs55782189 rs56181542 rs55906201 rs1670283 rs1881420 rs1881421 rs1881423 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:16317043, ECO:0000269|PubMed:9174053}; Single-pass type I membrane protein {ECO:0000269|PubMed:16317043, ECO:0000269|PubMed:9174053}. Note=Membrane attachment was crucial for promotion of neuron-like differentiation and cell proliferation arrest through specific activation of the MAP kinase pathway.


uniprotID: Q96BM1
geneSymbol: ANKRD9
reactome: R-HSA-8951664;
name: Ankyrin repeat domain-containing protein 9
length: 317
go: ENSG00000156381;
sequence:

opentargets:
axon initial segment [GO:0043194]; cytosol [GO:0005829]; membrane [GO:0016020]; ion channel binding [GO:0044325]; post-translational protein modification [GO:0043687]; protein localization to plasma membrane [GO:0072659]


uniprotID: Q68DC2
geneSymbol: ANKS6
pdb: 4NL9;
length: 871
go: ENSG00000165138;
opentargets: cilium [GO:0005929]; cytoplasm [GO:0005737]
snps: rs41283630 rs763855876 rs377750405 rs749102463 rs6415847 rs79414550
name:
Ankyrin repeat and SAM domain-containing protein 6 (Ankyrin repeat domain-containing protein 14) (SamCystin) (Sterile alpha motif domain-containing protein 6) (SAM domain-containing protein 6)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q68DC2-1; Sequence=Displayed; Name=2; IsoId=Q68DC2-3; Sequence=VSP_016496, VSP_016497; Note=Gene prediction confirmed by EST data.; Name=3; IsoId=Q68DC2-4; Sequence=VSP_016498; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000250|UniProtKB:Q6GQX6}. Cytoplasm {ECO:0000250|UniProtKB:P0C0T2}. Note=Localizes to the proximal region of the primary cilium in the presence of INVS. {ECO:0000250|UniProtKB:Q6GQX6}.


uniprotID: Q9P2S6
geneSymbol: ANKMY1
length: 941
go: ENSG00000144504;
opentargets: metal ion binding [GO:0046872]
snps: rs35278753 rs35996697 rs3796118 rs3821348 rs35044862
name:
Ankyrin repeat and MYND domain-containing protein 1 (Testis-specific ankyrin-like protein 1) (Zinc finger MYND domain-containing protein 13)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9P2S6-1; Sequence=Displayed; Name=2; IsoId=Q9P2S6-2; Sequence=VSP_007442, VSP_007445; Name=3; IsoId=Q9P2S6-3; Sequence=VSP_007442, VSP_007443, VSP_007444; Note=No experimental confirmation available.; Name=4; IsoId=Q9P2S6-4; Sequence=VSP_039104; 


uniprotID: Q8IV38
geneSymbol: ANKMY2
name: Ankyrin repeat and MYND domain-containing protein 2
length: 441
go: ENSG00000106524;
opentargets: cilium [GO:0005929]; enzyme binding [GO:0019899]; metal ion binding [GO:0046872]
location: SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000250}.
sequence:


uniprotID: Q32M45
geneSymbol: ANO4
reactome: R-HSA-2672351;
name: Anoctamin-4 (Transmembrane protein 16D)
length: 955
go: ENSG00000151572;
snps: rs34162417
sequence:

opentargets:
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; IsoId=Q32M45-1; Sequence=Displayed; Name=2; IsoId=Q32M45-2; Sequence=VSP_025742; Name=3; IsoId=Q32M45-3; Sequence=VSP_025741, VSP_025743; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22946059}; Multi-pass membrane protein {ECO:0000269|PubMed:22946059}. Note=Shows an intracellular localization. {ECO:0000250|UniProtKB:Q8C5H1}.


uniprotID: Q7Z713
geneSymbol: ANKRD37
length: 158
go: ENSG00000186352;
opentargets: cytosol [GO:0005829]; mitochondrion [GO:0005739]; nucleus [GO:0005634]
snps: rs4317244
name:
Ankyrin repeat domain-containing protein 37 (Low-density lipoprotein receptor-related protein 2-binding protein) (hLrp2bp)

sequence:
MLLLDCNPEVDGLKHLLETGASVNAPPDPCKQSPVHLAAGSGLACFLLWQLQTGADLNQQDVLGEAPLHKAAKVGSLECLSLLVASDAQIDLCNKNGQTAEDLAWSCGFPDCAKFLTTIKCMQTIKASEHPDRNDCVAVLRQKRSLGSVENTSGKRKC

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15809689}. Cytoplasm {ECO:0000269|PubMed:15809689}.


uniprotID: Q4KMQ2
geneSymbol: ANO6
reactome: R-HSA-2672351;R-HSA-6798695;
length: 910
go: ENSG00000177119;
snps: rs2162321
name:
Anoctamin-6 (Small-conductance calcium-activated nonselective cation channel) (SCAN channel) (Transmembrane protein 16F)

sequence:

opentargets:
cell surface [GO:0009986]; chloride channel complex [GO:0034707]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intracellular [GO:0005622]; membrane [GO:0016020]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; tertiary granule membrane [GO:0070821]; calcium activated cation channel activity [GO:0005227]; intracellular calcium activated chloride channel activity [GO:0005229]; phospholipid scramblase activity [GO:0017128]; protein homodimerization activity [GO:0042803]; voltage-gated chloride channel activity [GO:0005247]; voltage-gated ion channel activity [GO:0005244]; activation of blood coagulation via clotting cascade [GO:0002543]; bleb assembly [GO:0032060]; blood coagulation [GO:0007596]; bone mineralization involved in bone maturation [GO:0035630]; calcium activated galactosylceramide scrambling [GO:0061591]; calcium activated phosphatidylcholine scrambling [GO:0061590]; calcium activated phosphatidylserine scrambling [GO:0061589]; calcium ion transmembrane transport [GO:0070588]; cation transport [GO:0006812]; chloride transmembrane transport [GO:1902476]; chloride transport [GO:0006821]; dendritic cell chemotaxis [GO:0002407]; ion transmembrane transport [GO:0034220]; negative regulation of cell volume [GO:0045794]; neutrophil degranulation [GO:0043312]; phosphatidylserine exposure on blood platelet [GO:0097045]; phospholipid scrambling [GO:0017121]; pore complex assembly [GO:0046931]; positive regulation of apoptotic process [GO:0043065]; positive regulation of bone mineralization [GO:0030501]; positive regulation of endothelial cell apoptotic process [GO:2000353]; positive regulation of ion transmembrane transport [GO:0034767]; positive regulation of monocyte chemotaxis [GO:0090026]; positive regulation of phagocytosis, engulfment [GO:0060100]; positive regulation of potassium ion export [GO:1902304]; purinergic nucleotide receptor signaling pathway [GO:0035590]; sodium ion transmembrane transport [GO:0035725]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q4KMQ2-1; Sequence=Displayed; Name=2; IsoId=Q4KMQ2-2; Sequence=VSP_042893; Note=No experimental confirmation available.; Name=3; IsoId=Q4KMQ2-3; Sequence=VSP_046819; Note=Gene prediction based on EST data.; Name=4; IsoId=Q4KMQ2-4; Sequence=VSP_046820; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:20056604, ECO:0000269|PubMed:21107324, ECO:0000269|PubMed:22075693, ECO:0000269|PubMed:22946059}; Multi-pass membrane protein {ECO:0000269|PubMed:20056604, ECO:0000269|PubMed:21107324, ECO:0000269|PubMed:22075693, ECO:0000269|PubMed:22946059}. Note=Shows an intracellular localization according to PubMed:22075693.


uniprotID: Q8N8A2
geneSymbol: ANKRD44
length: 993
go: ENSG00000065413;
name:
Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B (PP6-ARS-B) (Serine/threonine-protein phosphatase 6 regulatory subunit ARS-B) (Ankyrin repeat domain-containing protein 44)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8N8A2-1; Sequence=Displayed; Name=2; IsoId=Q8N8A2-2; Sequence=VSP_019601, VSP_019604; Note=No experimental confirmation available.; Name=3; IsoId=Q8N8A2-3; Sequence=VSP_019602, VSP_019603; Note=No experimental confirmation available.; Name=4; IsoId=Q8N8A2-4; Sequence=VSP_019600, VSP_035965; Note=No experimental confirmation available.; Name=5; IsoId=Q8N8A2-5; Sequence=VSP_035966; 


uniprotID: Q92625
geneSymbol: ANKS1A
pdb: 2LMR;2MYQ;6F7O;
name: Ankyrin repeat and SAM domain-containing protein 1A (Odin)
length: 1134
go: ENSG00000064999;
snps: rs6930932 rs820085
sequence:

opentargets:
cytosol [GO:0005829]; neuron projection [GO:0043005]; nucleoplasm [GO:0005654]; ephrin receptor binding [GO:0046875]; ephrin receptor signaling pathway [GO:0048013]; neuron remodeling [GO:0016322]; regulation of ephrin receptor signaling pathway [GO:1901187]; substrate-dependent cell migration [GO:0006929]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92625-1; Sequence=Displayed; Name=2; IsoId=Q92625-2; Sequence=VSP_056512, VSP_056513; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cell projection {ECO:0000250}. Note=Cytoplasmic before and after growth factor treatment.


uniprotID: Q86W74
geneSymbol: ANKRD46
name: Ankyrin repeat domain-containing protein 46 (Ankyrin repeat small protein) (ANK-S)
length: 232
go: ENSG00000186106;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86W74-1; Sequence=Displayed; Name=2; IsoId=Q86W74-2; Sequence=VSP_019606; 


uniprotID: A1A5B4
geneSymbol: ANO9
reactome: R-HSA-2672351;
length: 782
go: ENSG00000185101;
snps: rs7395065 rs10794324 rs10794323
name:
Anoctamin-9 (Transmembrane protein 16J) (Tumor protein p53-inducible protein 5) (p53-induced gene 5 protein)

sequence:

opentargets:
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]; 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]; negative regulation of intracellular calcium activated chloride channel activity [GO:1902939]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=A1A5B4-1; Sequence=Displayed; Name=2; IsoId=A1A5B4-2; Sequence=VSP_036489, VSP_036492; Name=3; IsoId=A1A5B4-3; Sequence=VSP_036490, VSP_036491; 

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: Q96LA8
geneSymbol: PRMT6
reactome: R-HSA-3214858;R-HSA-8936459;
pdb: 4HC4;4QPP;4QQK;4Y2H;4Y30;5E8R;5EGS;5HZM;5WCF;
length: 375
go: ENSG00000198890;
snps: rs2232016
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11724789}.
name:
Protein arginine N-methyltransferase 6 (EC 2.1.1.319) (Heterogeneous nuclear ribonucleoprotein methyltransferase-like protein 6) (Histone-arginine N-methyltransferase PRMT6)

sequence:

opentargets:
cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; histone binding [GO:0042393]; histone methyltransferase activity [GO:0042054]; histone methyltransferase activity (H2A-R3 specific) [GO:0070612]; histone methyltransferase activity (H3-R2 specific) [GO:0070611]; 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]; base-excision repair [GO:0006284]; cellular senescence [GO:0090398]; histone arginine methylation [GO:0034969]; histone H3-R2 methylation [GO:0034970]; histone methylation [GO:0016571]; negative regulation of histone H3-K4 methylation [GO:0051572]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; peptidyl-arginine methylation, to asymmetrical-dimethyl arginine [GO:0019919]; regulation of megakaryocyte differentiation [GO:0045652]; regulation of signal transduction by p53 class mediator [GO:1901796]; regulation of transcription, DNA-templated [GO:0006355]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96LA8-1; Sequence=Displayed; Name=2; IsoId=Q96LA8-2; Sequence=VSP_037465; Note=No experimental confirmation available.; 


uniprotID: Q9H6X2
geneSymbol: ANTXR1
reactome: R-HSA-5210891;
pdb: 3N2N;
name: Anthrax toxin receptor 1 (Tumor endothelial marker 8)
length: 564
go: ENSG00000169604;
snps: rs28365986 rs119475040
sequence:

opentargets:
cell surface [GO:0009986]; endosome membrane [GO:0010008]; external side of plasma membrane [GO:0009897]; filopodium membrane [GO:0031527]; integral component of membrane [GO:0016021]; lamellipodium membrane [GO:0031258]; plasma membrane [GO:0005886]; actin filament binding [GO:0051015]; collagen binding [GO:0005518]; metal ion binding [GO:0046872]; transmembrane signaling receptor activity [GO:0004888]; actin cytoskeleton reorganization [GO:0031532]; blood vessel development [GO:0001568]; negative regulation of extracellular matrix assembly [GO:1901202]; positive regulation of metallopeptidase activity [GO:1905050]; reproductive process [GO:0022414]; substrate adhesion-dependent cell spreading [GO:0034446]; toxin transport [GO:1901998]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q9H6X2-1; Sequence=Displayed; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=2; IsoId=Q9H6X2-2; Sequence=VSP_000444, VSP_000445; Name=3; IsoId=Q9H6X2-3; Sequence=VSP_000446, VSP_000447; Note=No experimental confirmation available.; Name=4; IsoId=Q9H6X2-4; Sequence=VSP_000448, VSP_000449; Name=5; Synonyms=V4; IsoId=Q9H6X2-5; Sequence=VSP_047865; Name=6; Synonyms=V5; IsoId=Q9H6X2-6; Sequence=VSP_047863, VSP_047864; Note=Prostate-specific.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:16762926}; Single-pass type I membrane protein {ECO:0000269|PubMed:16762926}. Cell projection, lamellipodium membrane {ECO:0000269|PubMed:16762926}; Single-pass type I membrane protein {ECO:0000269|PubMed:16762926}. Cell projection, filopodium membrane {ECO:0000269|PubMed:16762926}; Single-pass type I membrane protein {ECO:0000269|PubMed:16762926}. Note=At the membrane of lamellipodia and at the tip of actin-enriched filopodia. Colocalizes with actin at the base of lamellipodia.


uniprotID: P17342
geneSymbol: NPR3
pdb: 1JDN;1JDP;1YK0;1YK1;
length: 541
go: ENSG00000113389;
drug: DB04899;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Atrial natriuretic peptide receptor 3 (Atrial natriuretic peptide clearance receptor) (Atrial natriuretic peptide receptor type C) (ANP-C) (ANPR-C) (NPR-C)

sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; protein-containing complex [GO:0032991]; chloride ion binding [GO:0031404]; G protein-coupled peptide receptor activity [GO:0008528]; hormone binding [GO:0042562]; natriuretic peptide receptor activity [GO:0016941]; peptide binding [GO:0042277]; peptide hormone binding [GO:0017046]; protein homodimerization activity [GO:0042803]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; negative regulation of adenylate cyclase activity [GO:0007194]; negative regulation of cold-induced thermogenesis [GO:0120163]; negative regulation of smooth muscle cell proliferation [GO:0048662]; osteoclast proliferation [GO:0002158]; pancreatic juice secretion [GO:0030157]; phosphatidylinositol-mediated signaling [GO:0048015]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; positive regulation of nitric-oxide synthase activity [GO:0051000]; positive regulation of urine volume [GO:0035810]; regulation of blood pressure [GO:0008217]; regulation of osteoblast proliferation [GO:0033688]; skeletal system development [GO:0001501]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=NPR-C5; IsoId=P17342-1; Sequence=Displayed; Name=2; Synonyms=NPR-C6; IsoId=P17342-2; Sequence=VSP_001812; Name=3; IsoId=P17342-3; Sequence=VSP_045901, VSP_045902, VSP_001812; Note=No experimental confirmation available.; 


uniprotID: Q9BZ19
geneSymbol: ANKRD60
name: Ankyrin repeat domain-containing protein 60
length: 345
go: ENSG00000124227;
snps: rs584855
sequence:


uniprotID: A6NGH8
geneSymbol: ANKRD61
name: Ankyrin repeat domain-containing protein 61
length: 418
go: ENSG00000157999;
sequence:


uniprotID: Q6UB99
geneSymbol: ANKRD11
name: Ankyrin repeat domain-containing protein 11 (Ankyrin repeat-containing cofactor 1)
length: 2663
go: ENSG00000167522;
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; bone development [GO:0060348]; face morphogenesis [GO:0060325]; in utero embryonic development [GO:0001701]; multicellular organism growth [GO:0035264]; odontogenesis of dentin-containing tooth [GO:0042475]; skeletal system morphogenesis [GO:0048705]; tissue homeostasis [GO:0001894]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15184363, ECO:0000269|PubMed:25413698, ECO:0000269|PubMed:25556659, ECO:0000269|Ref.1}. Note=Localizes to chromatin during prometaphase. {ECO:0000269|PubMed:25413698}.


uniprotID: Q6P6B7
geneSymbol: ANKRD16
name: Ankyrin repeat domain-containing protein 16
length: 361
go: ENSG00000134461;
opentargets: cytoplasm [GO:0005737]; nucleus [GO:0005634]; tRNA modification [GO:0006400]
snps: rs2296136 rs1052420
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6P6B7-1; Sequence=Displayed; Name=2; IsoId=Q6P6B7-2; Sequence=VSP_047046, VSP_047047; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:A2AS55}. Nucleus {ECO:0000250|UniProtKB:A2AS55}.


uniprotID: O75179
geneSymbol: ANKRD17
length: 2603
go: ENSG00000132466;
snps: rs2306059
name:
Ankyrin repeat domain-containing protein 17 (Gene trap ankyrin repeat protein) (Serologically defined breast cancer antigen NY-BR-16)

sequence:

opentargets:
chromatin [GO:0000785]; cytoplasm [GO:0005737]; membrane [GO:0016020]; nuclear membrane [GO:0031965]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; RNA binding [GO:0003723]; blood vessel maturation [GO:0001955]; defense response to bacterium [GO:0042742]; innate immune response [GO:0045087]; negative regulation of smooth muscle cell differentiation [GO:0051151]; positive regulation of cell cycle [GO:0045787]; positive regulation of G1/S transition of mitotic cell cycle [GO:1900087]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of MDA-5 signaling pathway [GO:1900245]; positive regulation of RIG-I signaling pathway [GO:1900246]; regulation of DNA replication [GO:0006275]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=O75179-1; Sequence=Displayed; Name=2; IsoId=O75179-2; Sequence=VSP_028863; Name=3; IsoId=O75179-3; Sequence=VSP_028864, VSP_028865; Note=No experimental confirmation available.; Name=4; IsoId=O75179-4; Sequence=VSP_028861, VSP_028862; Note=No experimental confirmation available.; Name=5; IsoId=O75179-5; Sequence=VSP_028859, VSP_028860; Note=No experimental confirmation available.; Name=6; IsoId=O75179-6; Sequence=VSP_047048; Note=Gene prediction based on EST data.; Name=7; IsoId=O75179-7; Sequence=VSP_054757; Note=Gene prediction based on cDNA data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17276651, ECO:0000269|PubMed:22328336}. Nucleus {ECO:0000269|PubMed:17276651, ECO:0000269|PubMed:19150984, ECO:0000269|PubMed:22328336}. Note=Detected around the nucleolus. Localized on chromatin in a cell cycle-dependent manner. {ECO:0000269|PubMed:17276651, ECO:0000269|PubMed:19150984}.


uniprotID: Q86SG2
geneSymbol: ANKRD23
length: 305
go: ENSG00000163126;
location: SUBCELLULAR LOCATION: Nucleus. Note=Sarcomeric I-band and some intercalated disks. {ECO:0000250}.
name:
Ankyrin repeat domain-containing protein 23 (Diabetes-related ankyrin repeat protein) (Muscle ankyrin repeat protein 3)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytosol [GO:0005829]; intercalated disc [GO:0014704]; myofibril [GO:0030016]; nucleoplasm [GO:0005654]; titin binding [GO:0031432]; response to mechanical stimulus [GO:0009612]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86SG2-1; Sequence=Displayed; Name=2; IsoId=Q86SG2-2; Sequence=VSP_019424; Note=No experimental confirmation available.; 


uniprotID: P27216
geneSymbol: ANXA13
name: Annexin A13 (Annexin XIII) (Annexin-13) (Intestine-specific annexin) (ISA)
length: 316
go: ENSG00000104537;
snps: rs2294013 rs6995099 rs2294015
sequence:

opentargets:
apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; exocytic vesicle [GO:0070382]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; membrane raft [GO:0045121]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; phosphatidylglycerol binding [GO:1901611]; phosphatidylserine binding [GO:0001786]; cell differentiation [GO:0030154]; negative regulation of Golgi to plasma membrane protein transport [GO:0042997]; positive regulation of Golgi to plasma membrane protein transport [GO:0042998]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=A; Synonyms=Anx13A; IsoId=P27216-1; Sequence=Displayed; Name=B; Synonyms=Anx13B; IsoId=P27216-2; Sequence=VSP_000291; 

location:
SUBCELLULAR LOCATION: Cell membrane. Note=Associated with the plasma membrane of undifferentiated, proliferating crypt epithelial cells as well as differentiated villus enterocytes.


uniprotID: Q6TDU7
geneSymbol: CASC1
length: 716
go: ENSG00000118307;
snps: rs10842496 rs859146
name:
Protein CASC1 (Cancer susceptibility candidate gene 1 protein) (Lung adenoma susceptibility 1-like protein) (Protein phosphatase 1 regulatory subunit 54)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6TDU7-1; Sequence=Displayed; Name=2; IsoId=Q6TDU7-2; Sequence=VSP_033380; Note=No experimental confirmation available.; Name=3; IsoId=Q6TDU7-3; Sequence=VSP_033381, VSP_033382, VSP_033383; Note=No experimental confirmation available.; Name=4; IsoId=Q6TDU7-4; Sequence=VSP_046917; Note=No experimental confirmation available.; 


uniprotID: Q96PB1
geneSymbol: CASD1
length: 797
go: ENSG00000127995;
snps: rs17855797
name:
N-acetylneuraminate 9-O-acetyltransferase (EC 2.3.1.45) (CAS1 domain-containing protein 1) (Sialate O-acetyltransferase) (SOAT)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; integral component of Golgi membrane [GO:0030173]; acetyltransferase activity [GO:0016407]; N-acetylneuraminate 7-O(or 9-O)-acetyltransferase activity [GO:0047186]; carbohydrate metabolic process [GO:0005975]

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:26169044}; Multi-pass membrane protein {ECO:0000305}.


uniprotID: Q13520
geneSymbol: AQP6
reactome: R-HSA-432047;
pdb: 1S6E;
name: Aquaporin-6 (AQP-6) (Aquaporin-2-like) (Kidney-specific aquaporin) (hKID)
length: 282
go: ENSG00000086159;
snps: rs17124220
sequence:

opentargets:
apical plasma membrane [GO:0016324]; cytoplasmic vesicle membrane [GO:0030659]; integral component of plasma membrane [GO:0005887]; nitrate transmembrane transporter activity [GO:0015112]; water channel activity [GO:0015250]; excretion [GO:0007588]; odontogenesis [GO:0042476]

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.


uniprotID: O14520
geneSymbol: AQP7
reactome: R-HSA-432030;R-HSA-432047;
name: Aquaporin-7 (AQP-7) (Aquaglyceroporin-7) (Aquaporin adipose) (AQPap) (Aquaporin-7-like)
length: 342
go: ENSG00000165269;
snps: rs139297434 rs2381003 rs4008659 rs4008658 rs62542743
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:

opentargets:
cell-cell junction [GO:0005911]; cytoplasm [GO:0005737]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; glycerol channel activity [GO:0015254]; water channel activity [GO:0015250]; excretion [GO:0007588]; generation of precursor metabolites and energy [GO:0006091]; glycerol transport [GO:0015793]; water transport [GO:0006833]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O14520-1; Sequence=Displayed; Name=2; IsoId=O14520-2; Sequence=VSP_056249, VSP_056250; 


uniprotID: P07498
geneSymbol: CSN3
reactome: R-HSA-5223345;
name: Kappa-casein
length: 182
go: ENSG00000171209;
snps: rs17850702 rs1048152 rs3775739
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MKSFLLVVNALALTLPFLAVEVQNQKQPACHENDERPFYQKTAPYVPMYYVPNSYPYYGTNLYQRRPAIAINNPYVPRTYYANPAVVRPHAQIPQRQYLPNSHPPTVVRRPNLHPSFIAIPPKKIQDKIIIPTINTIATVEPTPAPATEPTVDSVVTPEAFSESIITSTPETTTVAVTPPTA

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; lactation [GO:0007595]; protein stabilization [GO:0050821]; transmembrane transport [GO:0055085]


uniprotID: Q9UF02
geneSymbol: CACNG5
reactome: R-HSA-5576892;R-HSA-5576893;
length: 275
go: ENSG00000075429;
name:
Voltage-dependent calcium channel gamma-5 subunit (Neuronal voltage-gated calcium channel gamma-5 subunit) (Transmembrane AMPAR regulatory protein gamma-5) (TARP gamma-5)

sequence:

opentargets:
AMPA glutamate receptor complex [GO:0032281]; cell junction [GO:0030054]; glutamatergic synapse [GO:0098978]; integral component of postsynaptic membrane [GO:0099055]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic density membrane [GO:0098839]; channel regulator activity [GO:0016247]; ion transmembrane transporter activity [GO:0015075]; voltage-gated calcium channel activity [GO:0005245]; neurotransmitter receptor internalization [GO:0099590]; neurotransmitter receptor transport, postsynaptic endosome to lysosome [GO:0098943]; positive regulation of synaptic transmission, glutamatergic [GO:0051968]; postsynaptic neurotransmitter receptor diffusion trapping [GO:0098970]; regulation of AMPA receptor activity [GO:2000311]; regulation of postsynaptic neurotransmitter receptor activity [GO:0098962]; transmission of nerve impulse [GO:0019226]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}.


uniprotID: Q16663
geneSymbol: CCL15
pdb: 2HCC;
length: 113
snps: rs854625
location: SUBCELLULAR LOCATION: Secreted.
name:
C-C motif chemokine 15 (Chemokine CC-2) (HCC-2) (Leukotactin-1) (LKN-1) (MIP-1 delta) (Macrophage inflammatory protein 5) (MIP-5) (Mrp-2b) (NCC-3) (Small-inducible cytokine A15) [Cleaved into: CCL15(22-92); CCL15(25-92); CCL15(29-92)]

sequence:
MKVSVAALSCLMLVAVLGSQAQFINDAETELMMSKLPLENPVVLNSFHFAADCCTSYISQSIPCSLMKSYFETSSECSKPGVIFLTKKGRQVCAKPSGPGVQDCMKKLKPYSI

opentargets:
cell [GO:0005623]; extracellular space [GO:0005615]; CCR chemokine receptor binding [GO:0048020]; chemoattractant activity [GO:0042056]; chemokine activity [GO:0008009]; heparin binding [GO:0008201]; signaling receptor binding [GO:0005102]; cell-cell signaling [GO:0007267]; cellular calcium ion homeostasis [GO:0006874]; cellular response to interferon-gamma [GO:0071346]; cellular response to interleukin-1 [GO:0071347]; cellular response to tumor necrosis factor [GO:0071356]; chemokine-mediated signaling pathway [GO:0070098]; chemotaxis [GO:0006935]; eosinophil chemotaxis [GO:0048245]; G protein-coupled receptor signaling pathway [GO:0007186]; inflammatory response [GO:0006954]; lymphocyte chemotaxis [GO:0048247]; monocyte chemotaxis [GO:0002548]; neutrophil chemotaxis [GO:0030593]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of GTPase activity [GO:0043547]; signal transduction [GO:0007165]


uniprotID: O15467
geneSymbol: CCL16
reactome: R-HSA-380108;R-HSA-418594;
pdb: 5LTL;
length: 120
go: ENSG00000275152;
location: SUBCELLULAR LOCATION: Secreted.
name:
C-C motif chemokine 16 (Chemokine CC-4) (HCC-4) (Chemokine LEC) (IL-10-inducible chemokine) (LCC-1) (Liver-expressed chemokine) (Lymphocyte and monocyte chemoattractant) (LMC) (Monotactin-1) (MTN-1) (NCC-4) (Small-inducible cytokine A16)

sequence:
MKVSEAALSLLVLILIITSASRSQPKVPEWVNTPSTCCLKYYEKVLPRRLVVGYRKALNCHLPAIIFVTKRNREVCTNPNDDWVQEYIKDPNLPLLPTRNLSTVKIITAKNGQPQLLNSQ

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; CCR chemokine receptor binding [GO:0048020]; chemoattractant activity [GO:0042056]; chemokine activity [GO:0008009]; cell communication [GO:0007154]; cell-cell signaling [GO:0007267]; cellular response to interferon-gamma [GO:0071346]; cellular response to interleukin-1 [GO:0071347]; cellular response to tumor necrosis factor [GO:0071356]; chemokine-mediated signaling pathway [GO:0070098]; chemotaxis [GO:0006935]; eosinophil chemotaxis [GO:0048245]; G protein-coupled receptor signaling pathway [GO:0007186]; inflammatory response [GO:0006954]; lymphocyte chemotaxis [GO:0048247]; monocyte chemotaxis [GO:0002548]; neutrophil chemotaxis [GO:0030593]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of GTPase activity [GO:0043547]


uniprotID: Q99731
geneSymbol: CCL19
reactome: R-HSA-380108;R-HSA-418594;R-HSA-6783783;
pdb: 2MP1;
sequence: MALLLALSLLVLWTSPAPTLSGTNDAEDCCLSVTQKPIPGYIVRNFHYLLIKDGCRVPAVVFTTLRGRQLCAPPDQPWVERIIQRLQRTSAKMKRRSS
length: 98
go: ENSG00000172724;
location: SUBCELLULAR LOCATION: Secreted.
name:
C-C motif chemokine 19 (Beta-chemokine exodus-3) (CK beta-11) (Epstein-Barr virus-induced molecule 1 ligand chemokine) (EBI1 ligand chemokine) (ELC) (Macrophage inflammatory protein 3 beta) (MIP-3-beta) (Small-inducible cytokine A19)

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; CCR chemokine receptor binding [GO:0048020]; CCR10 chemokine receptor binding [GO:0031735]; CCR7 chemokine receptor binding [GO:0031732]; chemokine activity [GO:0008009]; chemokine receptor binding [GO:0042379]; activation of JUN kinase activity [GO:0007257]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; cell communication [GO:0007154]; cell maturation [GO:0048469]; cellular calcium ion homeostasis [GO:0006874]; cellular response to interferon-gamma [GO:0071346]; cellular response to interleukin-1 [GO:0071347]; cellular response to tumor necrosis factor [GO:0071356]; cellular response to virus [GO:0098586]; chemokine-mediated signaling pathway [GO:0070098]; cytokine-mediated signaling pathway [GO:0019221]; dendritic cell chemotaxis [GO:0002407]; establishment of T cell polarity [GO:0001768]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; immunological synapse formation [GO:0001771]; inflammatory response [GO:0006954]; interleukin-12 secretion [GO:0072610]; killing of cells of other organism [GO:0031640]; lymphocyte chemotaxis [GO:0048247]; mature conventional dendritic cell differentiation [GO:0097029]; monocyte chemotaxis [GO:0002548]; myeloid dendritic cell chemotaxis [GO:0002408]; negative regulation of dendritic cell apoptotic process [GO:2000669]; neutrophil chemotaxis [GO:0030593]; positive regulation of cell motility [GO:2000147]; positive regulation of chemotaxis [GO:0050921]; positive regulation of dendritic cell antigen processing and presentation [GO:0002606]; positive regulation of dendritic cell dendrite assembly [GO:2000549]; positive regulation of endocytosis [GO:0045807]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of glycoprotein biosynthetic process [GO:0010560]; positive regulation of GTPase activity [GO:0043547]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of interleukin-1 beta secretion [GO:0050718]; positive regulation of interleukin-12 production [GO:0032735]; positive regulation of JNK cascade [GO:0046330]; positive regulation of neutrophil chemotaxis [GO:0090023]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; positive regulation of phosphatidylinositol 3-kinase activity [GO:0043552]; positive regulation of protein kinase activity [GO:0045860]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of receptor-mediated endocytosis [GO:0048260]; positive regulation of T cell proliferation [GO:0042102]; positive regulation of T-helper 1 cell differentiation [GO:0045627]; positive regulation of tumor necrosis factor production [GO:0032760]; regulation of cell projection assembly [GO:0060491]; release of sequestered calcium ion into cytosol [GO:0051209]; response to nitric oxide [GO:0071731]; response to prostaglandin E [GO:0034695]; response to virus [GO:0009615]; T cell costimulation [GO:0031295]


uniprotID: P22362
geneSymbol: CCL1
reactome: R-HSA-380108;R-HSA-418594;
pdb: 1EL0;4OIJ;4OIK;
name: C-C motif chemokine 1 (Small-inducible cytokine A1) (T lymphocyte-secreted protein I-309)
sequence: MQIITTALVCLLLAGMWPEDVDSKSMQVPFSRCCFSFAEQEIPLRAILCYRNTSSICSNEGLIFKLKRGKEACALDTVGWVQRHRKMLRHCPSKRK
length: 96
go: ENSG00000108702;
location: SUBCELLULAR LOCATION: Secreted.
opentargets:
cell [GO:0005623]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; CCR chemokine receptor binding [GO:0048020]; chemokine activity [GO:0008009]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; cellular calcium ion homeostasis [GO:0006874]; cellular response to interferon-gamma [GO:0071346]; cellular response to interleukin-1 [GO:0071347]; cellular response to tumor necrosis factor [GO:0071356]; chemokine-mediated signaling pathway [GO:0070098]; chemotaxis [GO:0006935]; eosinophil chemotaxis [GO:0048245]; G protein-coupled receptor signaling pathway [GO:0007186]; inflammatory response [GO:0006954]; killing of cells of other organism [GO:0031640]; lymphocyte chemotaxis [GO:0048247]; monocyte chemotaxis [GO:0002548]; neutrophil chemotaxis [GO:0030593]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of GTPase activity [GO:0043547]; positive regulation of inflammatory response [GO:0050729]; positive regulation of interleukin-17 secretion [GO:1905078]; positive regulation of monocyte chemotaxis [GO:0090026]; signal transduction [GO:0007165]; viral process [GO:0016032]


uniprotID: P78556
geneSymbol: CCL20
reactome: R-HSA-380108;R-HSA-418594;R-HSA-6783783;
pdb: 1M8A;2HCI;2JYO;5UR7;
sequence: MCCTKSLLLAALMSVLLLHLCGESEAASNFDCCLGYTDRILHPKFIVGFTRQLANEGCDINAIIFHTKKKLSVCANPKQTWVKYIVRLLSKKVKNM
length: 96
go: ENSG00000115009;
snps: rs1049617
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:11035086}.
name:
C-C motif chemokine 20 (Beta-chemokine exodus-1) (CC chemokine LARC) (Liver and activation-regulated chemokine) (Macrophage inflammatory protein 3 alpha) (MIP-3-alpha) (Small-inducible cytokine A20) [Cleaved into: CCL20(1-67); CCL20(1-64); CCL20(2-70)]

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; CCR chemokine receptor binding [GO:0048020]; CCR6 chemokine receptor binding [GO:0031731]; chemokine activity [GO:0008009]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; calcium-mediated signaling using intracellular calcium source [GO:0035584]; cell chemotaxis [GO:0060326]; cell-cell signaling [GO:0007267]; cellular response to interferon-gamma [GO:0071346]; cellular response to interleukin-1 [GO:0071347]; cellular response to tumor necrosis factor [GO:0071356]; chemokine-mediated signaling pathway [GO:0070098]; chemotaxis [GO:0006935]; cytokine-mediated signaling pathway [GO:0019221]; defense response to bacterium [GO:0042742]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; inflammatory response [GO:0006954]; killing of cells of other organism [GO:0031640]; lymphocyte chemotaxis [GO:0048247]; monocyte chemotaxis [GO:0002548]; neutrophil chemotaxis [GO:0030593]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of GTPase activity [GO:0043547]; positive regulation of T cell migration [GO:2000406]; signal transduction [GO:0007165]; T cell migration [GO:0072678]; thymocyte migration [GO:0072679]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P78556-1; Sequence=Displayed; Name=2; IsoId=P78556-2; Sequence=VSP_001061; 


uniprotID: O00585
geneSymbol: CCL21
reactome: R-HSA-380108;R-HSA-418594;
pdb: 2L4N;5EKI;
length: 134
go: ENSG00000137077;
location: SUBCELLULAR LOCATION: Secreted.
name:
C-C motif chemokine 21 (6Ckine) (Beta-chemokine exodus-2) (Secondary lymphoid-tissue chemokine) (SLC) (Small-inducible cytokine A21)

sequence:
MAQSLALSLLILVLAFGIPRTQGSDGGAQDCCLKYSQRKIPAKVVRSYRKQEPSLGCSIPAILFLPRKRSQAELCADPKELWVQQLMQHLDKTPSPQKPAQGCRKDRGASKTGKKGKGSKGCKRTERSQTPKGP

opentargets:
cell [GO:0005623]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; CCR chemokine receptor binding [GO:0048020]; CCR7 chemokine receptor binding [GO:0031732]; chemokine activity [GO:0008009]; chemokine receptor binding [GO:0042379]; activation of GTPase activity [GO:0090630]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; cell chemotaxis [GO:0060326]; cell maturation [GO:0048469]; cell-cell signaling [GO:0007267]; cellular response to chemokine [GO:1990869]; cellular response to interferon-gamma [GO:0071346]; cellular response to interleukin-1 [GO:0071347]; cellular response to tumor necrosis factor [GO:0071356]; chemokine (C-C motif) ligand 21 signaling pathway [GO:0038116]; chemokine-mediated signaling pathway [GO:0070098]; dendritic cell chemotaxis [GO:0002407]; dendritic cell dendrite assembly [GO:0097026]; establishment of T cell polarity [GO:0001768]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; immunological synapse formation [GO:0001771]; inflammatory response [GO:0006954]; killing of cells of other organism [GO:0031640]; lymphocyte chemotaxis [GO:0048247]; mesangial cell-matrix adhesion [GO:0035759]; monocyte chemotaxis [GO:0002548]; negative regulation of dendritic cell apoptotic process [GO:2000669]; negative regulation of dendritic cell dendrite assembly [GO:2000548]; negative regulation of leukocyte tethering or rolling [GO:1903237]; neutrophil chemotaxis [GO:0030593]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of cell adhesion mediated by integrin [GO:0033630]; positive regulation of cell motility [GO:2000147]; positive regulation of cell-matrix adhesion [GO:0001954]; positive regulation of chemotaxis [GO:0050921]; positive regulation of dendritic cell antigen processing and presentation [GO:0002606]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of filopodium assembly [GO:0051491]; positive regulation of glycoprotein biosynthetic process [GO:0010560]; positive regulation of GTPase activity [GO:0043547]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of JNK cascade [GO:0046330]; positive regulation of myeloid dendritic cell chemotaxis [GO:2000529]; positive regulation of neutrophil chemotaxis [GO:0090023]; positive regulation of phosphatidylinositol 3-kinase activity [GO:0043552]; positive regulation of protein kinase activity [GO:0045860]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of pseudopodium assembly [GO:0031274]; positive regulation of receptor-mediated endocytosis [GO:0048260]; positive regulation of T cell chemotaxis [GO:0010820]; positive regulation of T cell migration [GO:2000406]; release of sequestered calcium ion into cytosol [GO:0051209]; response to prostaglandin E [GO:0034695]; ruffle organization [GO:0031529]; T cell costimulation [GO:0031295]


uniprotID: O00626
geneSymbol: CCL22
reactome: R-HSA-6783783;R-HSA-6785807;
sequence: MDRLQTALLVVLVLLAVALQATEAGPYGANMEDSVCCRDYVRYRLPLRVVKHFYWTSDSCPRPGVVLLTFRDKEICADPRVPWVKMILNKLSQ
length: 93
go: ENSG00000102962;
snps: rs4359426
location: SUBCELLULAR LOCATION: Secreted.
name:
C-C motif chemokine 22 (CC chemokine STCP-1) (MDC(1-69)) (Macrophage-derived chemokine) (Small-inducible cytokine A22) (Stimulated T-cell chemotactic protein 1) [Cleaved into: MDC(3-69); MDC(5-69); MDC(7-69)]

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; CCR chemokine receptor binding [GO:0048020]; chemokine activity [GO:0008009]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; cell-cell signaling [GO:0007267]; cellular response to interferon-gamma [GO:0071346]; cellular response to interleukin-1 [GO:0071347]; cellular response to tumor necrosis factor [GO:0071356]; chemokine-mediated signaling pathway [GO:0070098]; chemotaxis [GO:0006935]; cytokine-mediated signaling pathway [GO:0019221]; eosinophil chemotaxis [GO:0048245]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; inflammatory response [GO:0006954]; killing of cells of other organism [GO:0031640]; lymphocyte chemotaxis [GO:0048247]; monocyte chemotaxis [GO:0002548]; neutrophil chemotaxis [GO:0030593]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of GTPase activity [GO:0043547]; response to virus [GO:0009615]; signal transduction [GO:0007165]


uniprotID: O15444
geneSymbol: CCL25
reactome: R-HSA-380108;R-HSA-418594;
name: C-C motif chemokine 25 (Chemokine TECK) (Small-inducible cytokine A25) (Thymus-expressed chemokine)
length: 150
go: ENSG00000131142;
snps: rs960173 rs2032887 rs1129763
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MNLWLLACLVAGFLGAWAPAVHTQGVFEDCCLAYHYPIGWAVLRRAWTYRIQEVSGSCNLPAAIFYLPKRHRKVCGNPKSREVQRAMKLLDARNKVFAKLHHNTQTFQAGPHAVKKLSSGNSKLSSSKFSNPISSSKRNVSLLISANSGL

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; CCR chemokine receptor binding [GO:0048020]; CCR10 chemokine receptor binding [GO:0031735]; chemokine activity [GO:0008009]; chemokine receptor binding [GO:0042379]; hormone activity [GO:0005179]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; cell chemotaxis [GO:0060326]; cell surface receptor signaling pathway [GO:0007166]; cellular response to interferon-gamma [GO:0071346]; cellular response to interleukin-1 [GO:0071347]; cellular response to tumor necrosis factor [GO:0071356]; chemokine-mediated signaling pathway [GO:0070098]; chemotaxis [GO:0006935]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; inflammatory response [GO:0006954]; killing of cells of other organism [GO:0031640]; lymphocyte chemotaxis [GO:0048247]; monocyte chemotaxis [GO:0002548]; negative regulation of leukocyte tethering or rolling [GO:1903237]; neutrophil chemotaxis [GO:0030593]; positive regulation of cell-matrix adhesion [GO:0001954]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of GTPase activity [GO:0043547]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O15444-1; Sequence=Displayed; Name=2; Synonyms=TECKvar; IsoId=O15444-2; Sequence=VSP_001064; 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=O15444-3; Sequence=VSP_043199; 


uniprotID: P80075
geneSymbol: CCL8
pdb: 1ESR;
sequence: MKVSAALLCLLLMAATFSPQGLAQPDSVSIPITCCFNVINRKIPIQRLESYTRITNIQCPKEAVIFKTKRGKEVCADPKERWVRDSMKHLDQIFQNLKP
length: 99
go: ENSG00000108700;
drug: DB03088;
snps: rs35401229 rs1133763
location: SUBCELLULAR LOCATION: Secreted.
name:
C-C motif chemokine 8 (HC14) (Monocyte chemoattractant protein 2) (Monocyte chemotactic protein 2) (MCP-2) (Small-inducible cytokine A8) [Cleaved into: MCP-2(6-76)]

opentargets:
cell [GO:0005623]; extracellular space [GO:0005615]; CCR chemokine receptor binding [GO:0048020]; CCR2 chemokine receptor binding [GO:0031727]; chemokine activity [GO:0008009]; heparin binding [GO:0008201]; phospholipase activator activity [GO:0016004]; protein kinase activity [GO:0004672]; angiogenesis [GO:0001525]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; calcium ion transport [GO:0006816]; cell-cell signaling [GO:0007267]; cellular calcium ion homeostasis [GO:0006874]; cellular response to interferon-gamma [GO:0071346]; cellular response to interleukin-1 [GO:0071347]; cellular response to tumor necrosis factor [GO:0071356]; chemokine-mediated signaling pathway [GO:0070098]; chemotaxis [GO:0006935]; eosinophil chemotaxis [GO:0048245]; exocytosis [GO:0006887]; G protein-coupled receptor signaling pathway [GO:0007186]; inflammatory response [GO:0006954]; killing of cells of other organism [GO:0031640]; lymphocyte chemotaxis [GO:0048247]; monocyte chemotaxis [GO:0002548]; negative regulation of leukocyte proliferation [GO:0070664]; neutrophil chemotaxis [GO:0030593]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of GTPase activity [GO:0043547]; positive regulation of leukocyte migration [GO:0002687]; response to virus [GO:0009615]; signal transduction [GO:0007165]


uniprotID: Q8WWL7
geneSymbol: CCNB3
name: G2/mitotic-specific cyclin-B3
length: 1395
go: ENSG00000147082;
snps: rs6614336
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12185076}.
sequence:

opentargets:
centrosome [GO:0005813]; cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; cytoplasm [GO:0005737]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; cyclin-dependent protein serine/threonine kinase regulator activity [GO:0016538]; protein kinase binding [GO:0019901]; cell division [GO:0051301]; meiotic cell cycle [GO:0051321]; mitotic cell cycle [GO:0000278]; positive regulation of cell cycle [GO:0045787]; positive regulation of cell proliferation [GO:0008284]; protein phosphorylation [GO:0006468]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; regulation of mitotic nuclear division [GO:0007088]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8WWL7-1; Sequence=Displayed; Name=2; Synonyms=Variant 1; IsoId=Q8WWL7-2; Sequence=VSP_010514; Name=3; Synonyms=Variant 2; IsoId=Q8WWL7-3; Sequence=VSP_010515; 


uniprotID: P24385
geneSymbol: CCND1
pdb: 2W96;2W99;2W9F;2W9Z;5VZU;
name: G1/S-specific cyclin-D1 (B-cell lymphoma 1 protein) (BCL-1) (BCL-1 oncogene) (PRAD1 oncogene)
length: 295
go: ENSG00000110092;
drug: DB01169;
reactome:
R-HSA-187577;R-HSA-1912408;R-HSA-3214858;R-HSA-6785807;R-HSA-69229;R-HSA-69231;R-HSA-8849470;R-HSA-8878166;R-HSA-8934593;R-HSA-8951430;R-HSA-8951936;R-HSA-9018519;

sequence:

opentargets:
bicellular tight junction [GO:0005923]; cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular [GO:0005622]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcriptional repressor complex [GO:0017053]; cyclin-dependent protein serine/threonine kinase activity [GO:0004693]; cyclin-dependent protein serine/threonine kinase regulator activity [GO:0016538]; enzyme binding [GO:0019899]; histone deacetylase binding [GO:0042826]; proline-rich region binding [GO:0070064]; protein kinase binding [GO:0019901]; protein-containing complex binding [GO:0044877]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; cell division [GO:0051301]; cellular response to DNA damage stimulus [GO:0006974]; cytokine-mediated signaling pathway [GO:0019221]; endoplasmic reticulum unfolded protein response [GO:0030968]; fat cell differentiation [GO:0045444]; G1/S transition of mitotic cell cycle [GO:0000082]; lactation [GO:0007595]; Leydig cell differentiation [GO:0033327]; liver regeneration [GO:0097421]; mammary gland alveolus development [GO:0060749]; mammary gland epithelial cell proliferation [GO:0033598]; mitotic cell cycle [GO:0000278]; mitotic G1 DNA damage checkpoint [GO:0031571]; negative regulation of cell cycle arrest [GO:0071157]; negative regulation of epithelial cell differentiation [GO:0030857]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of cell cycle [GO:0045787]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045737]; positive regulation of G1/S transition of mitotic cell cycle [GO:1900087]; positive regulation of G2/M transition of mitotic cell cycle [GO:0010971]; positive regulation of mammary gland epithelial cell proliferation [GO:0033601]; positive regulation of protein phosphorylation [GO:0001934]; re-entry into mitotic cell cycle [GO:0000320]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; regulation of mitotic nuclear division [GO:0007088]; response to calcium ion [GO:0051592]; response to corticosterone [GO:0051412]; response to drug [GO:0042493]; response to estradiol [GO:0032355]; response to estrogen [GO:0043627]; response to ethanol [GO:0045471]; response to iron ion [GO:0010039]; response to leptin [GO:0044321]; response to magnesium ion [GO:0032026]; response to organonitrogen compound [GO:0010243]; response to UV-A [GO:0070141]; response to vitamin E [GO:0033197]; response to X-ray [GO:0010165]; transcription initiation from RNA polymerase II promoter [GO:0006367]; Wnt signaling pathway [GO:0016055]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:9106657}. Cytoplasm {ECO:0000269|PubMed:9106657}. Membrane {ECO:0000269|PubMed:9106657}. Note=Cyclin D-CDK4 complexes accumulate at the nuclear membrane and are then translocated to the nucleus through interaction with KIP/CIP family members. {ECO:0000250}.


uniprotID: Q9UBL0
geneSymbol: ARPP21
name: cAMP-regulated phosphoprotein 21 (ARPP-21) (Thymocyte cAMP-regulated phosphoprotein)
length: 812
go: ENSG00000172995;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; calmodulin binding [GO:0005516]; nucleic acid binding [GO:0003676]; cellular response to heat [GO:0034605]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=TARPP; IsoId=Q9UBL0-1; Sequence=Displayed; Name=2; Synonyms=ARPP-21; IsoId=Q9UBL0-2; Sequence=VSP_029471, VSP_029472; Name=3; IsoId=Q9UBL0-3; Sequence=VSP_029474, VSP_029476; Name=4; IsoId=Q9UBL0-4; Sequence=VSP_029474, VSP_029475, VSP_029476; Name=5; IsoId=Q9UBL0-5; Sequence=VSP_029469, VSP_029476; Note=No experimental confirmation available.; Name=6; IsoId=Q9UBL0-6; Sequence=VSP_029470, VSP_029473; Note=No experimental confirmation available.; 


uniprotID: P61160
geneSymbol: ACTR2
reactome: R-HSA-2029482;R-HSA-3928662;R-HSA-5663213;R-HSA-6798695;R-HSA-8856828;
name: Actin-related protein 2 (Actin-like protein 2)
length: 394
go: ENSG00000138071;
drug: DB08235;
sequence:

opentargets:
actin cap [GO:0030478]; actin cytoskeleton [GO:0015629]; Arp2/3 protein complex [GO:0005885]; azurophil granule lumen [GO:0035578]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; focal adhesion [GO:0005925]; invadopodium [GO:0071437]; lamellipodium [GO:0030027]; membrane [GO:0016020]; nucleus [GO:0005634]; podosome core [GO:0061825]; postsynaptic density [GO:0014069]; site of double-strand break [GO:0035861]; actin binding [GO:0003779]; ATP binding [GO:0005524]; structural constituent of cytoskeleton [GO:0005200]; Arp2/3 complex-mediated actin nucleation [GO:0034314]; associative learning [GO:0008306]; asymmetric cell division [GO:0008356]; cellular response to interferon-gamma [GO:0071346]; cellular response to trichostatin A [GO:0035984]; cilium assembly [GO:0060271]; cytosolic transport [GO:0016482]; ephrin receptor signaling pathway [GO:0048013]; establishment or maintenance of cell polarity [GO:0007163]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; meiotic chromosome movement towards spindle pole [GO:0016344]; meiotic cytokinesis [GO:0033206]; membrane organization [GO:0061024]; neutrophil degranulation [GO:0043312]; positive regulation of dendritic spine morphogenesis [GO:0061003]; positive regulation of double-strand break repair via homologous recombination [GO:1905168]; positive regulation of transcription by RNA polymerase II [GO:0045944]; response to ethanol [GO:0045471]; response to immobilization stress [GO:0035902]; spindle localization [GO:0051653]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P61160-1; Sequence=Displayed; Name=2; IsoId=P61160-2; Sequence=VSP_046178; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:9000076}. Cell projection {ECO:0000269|PubMed:9000076}. Nucleus {ECO:0000269|PubMed:17220302, ECO:0000269|PubMed:29925947}.


uniprotID: P49407
geneSymbol: ARRB1
pdb: 2IV8;
name: Beta-arrestin-1 (Arrestin beta-1) (Non-visual arrestin-2)
length: 418
go: ENSG00000137486;
reactome:
R-HSA-2122948;R-HSA-418555;R-HSA-432720;R-HSA-432722;R-HSA-456926;R-HSA-5635838;R-HSA-5674135;R-HSA-5689880;R-HSA-6802946;R-HSA-6802948;R-HSA-6802949;R-HSA-6802952;R-HSA-6802955;R-HSA-8856825;R-HSA-8856828;

sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; chromatin [GO:0000785]; clathrin-coated pit [GO:0005905]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; endosome [GO:0005768]; Golgi membrane [GO:0000139]; lysosomal membrane [GO:0005765]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; pseudopodium [GO:0031143]; alpha-1A adrenergic receptor binding [GO:0031691]; alpha-1B adrenergic receptor binding [GO:0031692]; angiotensin receptor binding [GO:0031701]; AP-2 adaptor complex binding [GO:0035612]; arrestin family protein binding [GO:1990763]; clathrin adaptor activity [GO:0035615]; cysteine-type endopeptidase inhibitor activity involved in apoptotic process [GO:0043027]; enzyme inhibitor activity [GO:0004857]; estrogen receptor binding [GO:0030331]; follicle-stimulating hormone receptor binding [GO:0031762]; GTPase activator activity [GO:0005096]; insulin-like growth factor receptor binding [GO:0005159]; ion channel binding [GO:0044325]; mitogen-activated protein kinase kinase binding [GO:0031434]; protein phosphorylated amino acid binding [GO:0045309]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; ubiquitin protein ligase binding [GO:0031625]; V2 vasopressin receptor binding [GO:0031896]; activation of MAPK activity [GO:0000187]; follicle-stimulating hormone signaling pathway [GO:0042699]; G protein-coupled receptor internalization [GO:0002031]; G protein-coupled receptor signaling pathway [GO:0007186]; histone acetylation [GO:0016573]; membrane organization [GO:0061024]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of GTPase activity [GO:0034260]; negative regulation of interleukin-6 production [GO:0032715]; negative regulation of interleukin-8 production [GO:0032717]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of Notch signaling pathway [GO:0045746]; negative regulation of protein ubiquitination [GO:0031397]; phototransduction [GO:0007602]; platelet activation [GO:0030168]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of histone acetylation [GO:0035066]; positive regulation of histone H4 acetylation [GO:0090240]; positive regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0035774]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of protein binding [GO:0032092]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of protein ubiquitination [GO:0031398]; positive regulation of receptor internalization [GO:0002092]; positive regulation of Rho protein signal transduction [GO:0035025]; positive regulation of smooth muscle cell apoptotic process [GO:0034393]; positive regulation of transcription by RNA polymerase II [GO:0045944]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein transport [GO:0015031]; protein ubiquitination [GO:0016567]; response to drug [GO:0042493]; stress fiber assembly [GO:0043149]; transcription by RNA polymerase II [GO:0006366]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1A; IsoId=P49407-1; Sequence=Displayed; Name=1B; IsoId=P49407-2; Sequence=VSP_000322; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Cell membrane. Membrane, clathrin-coated pit {ECO:0000305}. Cell projection, pseudopodium {ECO:0000250}. Cytoplasmic vesicle. Note=Translocates to the plasma membrane and colocalizes with antagonist-stimulated GPCRs. The monomeric form is predominantly located in the nucleus. The oligomeric form is located in the cytoplasm. Translocates to the nucleus upon stimulation of OPRD1 (By similarity). {ECO:0000250}.


uniprotID: O00192
geneSymbol: ARVCF
name: Armadillo repeat protein deleted in velo-cardio-facial syndrome
length: 962
go: ENSG00000099889;
snps: rs2240717 rs2073748 rs16982871 rs165815 rs34638476 rs34687532 rs34445280
sequence:

opentargets:
cell-cell adherens junction [GO:0005913]; cell-cell junction [GO:0005911]; cytoplasm [GO:0005737]; intracellular [GO:0005622]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; cadherin binding [GO:0045296]; calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0016339]; cell adhesion [GO:0007155]; cell-cell adhesion [GO:0098609]; cell-cell junction assembly [GO:0007043]; multicellular organism development [GO:0007275]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=O00192-1; Sequence=Displayed; Name=Short; IsoId=O00192-2; Sequence=VSP_006739; 


uniprotID: P32121
geneSymbol: ARRB2
name: Beta-arrestin-2 (Arrestin beta-2) (Non-visual arrestin-3)
length: 409
go: ENSG00000141480;
reactome:
R-HSA-2122948;R-HSA-418555;R-HSA-456926;R-HSA-5099900;R-HSA-5635838;R-HSA-5674135;R-HSA-5689880;R-HSA-6802946;R-HSA-6802948;R-HSA-6802949;R-HSA-6802952;R-HSA-6802955;R-HSA-8856825;R-HSA-8856828;

sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; clathrin-coated pit [GO:0005905]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; endocytic vesicle [GO:0030139]; endosome [GO:0005768]; intracellular membrane-bounded organelle [GO:0043231]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; 14-3-3 protein binding [GO:0071889]; alpha-1A adrenergic receptor binding [GO:0031691]; alpha-1B adrenergic receptor binding [GO:0031692]; angiotensin receptor binding [GO:0031701]; arrestin family protein binding [GO:1990763]; D1 dopamine receptor binding [GO:0031748]; enzyme binding [GO:0019899]; follicle-stimulating hormone receptor binding [GO:0031762]; G protein-coupled receptor binding [GO:0001664]; identical protein binding [GO:0042802]; mitogen-activated protein kinase binding [GO:0051019]; platelet activating factor receptor binding [GO:0031859]; protein domain specific binding [GO:0019904]; protein kinase B binding [GO:0043422]; protein-containing complex binding [GO:0044877]; protein-containing complex scaffold activity [GO:0032947]; signaling receptor binding [GO:0005102]; type 1 angiotensin receptor binding [GO:0031702]; type 2A serotonin receptor binding [GO:0031826]; ubiquitin protein ligase binding [GO:0031625]; adult walking behavior [GO:0007628]; brain development [GO:0007420]; cell chemotaxis [GO:0060326]; desensitization of G protein-coupled receptor signaling pathway by arrestin [GO:0002032]; detection of temperature stimulus involved in sensory perception of pain [GO:0050965]; dopamine receptor signaling pathway [GO:0007212]; excitatory postsynaptic potential [GO:0060079]; follicle-stimulating hormone signaling pathway [GO:0042699]; G protein-coupled receptor internalization [GO:0002031]; G protein-coupled receptor signaling pathway [GO:0007186]; membrane organization [GO:0061024]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of GTPase activity [GO:0034260]; negative regulation of interleukin-1 beta production [GO:0032691]; negative regulation of interleukin-12 production [GO:0032695]; negative regulation of interleukin-6 production [GO:0032715]; negative regulation of natural killer cell mediated cytotoxicity [GO:0045953]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of protein kinase B signaling [GO:0051898]; negative regulation of protein phosphorylation [GO:0001933]; negative regulation of protein ubiquitination [GO:0031397]; negative regulation of release of cytochrome c from mitochondria [GO:0090201]; negative regulation of smooth muscle cell apoptotic process [GO:0034392]; negative regulation of toll-like receptor signaling pathway [GO:0034122]; negative regulation of tumor necrosis factor production [GO:0032720]; platelet activation [GO:0030168]; positive regulation of calcium ion transport [GO:0051928]; positive regulation of cardiac muscle cell differentiation [GO:2000727]; positive regulation of collagen biosynthetic process [GO:0032967]; positive regulation of DNA biosynthetic process [GO:2000573]; positive regulation of epithelial cell apoptotic process [GO:1904037]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of gene expression [GO:0010628]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of protein ubiquitination [GO:0031398]; positive regulation of receptor internalization [GO:0002092]; positive regulation of synaptic transmission, dopaminergic [GO:0032226]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein deubiquitination [GO:0016579]; protein transport [GO:0015031]; protein ubiquitination [GO:0016567]; receptor internalization [GO:0031623]; regulation of androgen receptor signaling pathway [GO:0060765]; transcription by RNA polymerase II [GO:0006366]; transforming growth factor beta receptor signaling pathway [GO:0007179]; Wnt signaling pathway, planar cell polarity pathway [GO:0060071]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=P32121-1; Sequence=Displayed; Name=2; IsoId=P32121-3; Sequence=VSP_008195; Name=3; IsoId=P32121-2; Sequence=VSP_008194, VSP_008195; Note=No experimental confirmation available.; Name=4; IsoId=P32121-4; Sequence=VSP_044697; Note=No experimental confirmation available.; Name=5; IsoId=P32121-5; Sequence=VSP_008194; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Cell membrane. Membrane, clathrin-coated pit {ECO:0000250}. Cytoplasmic vesicle. Note=Translocates to the plasma membrane and colocalizes with antagonist-stimulated GPCRs.


uniprotID: P36575
geneSymbol: ARR3
pdb: 1XEH;2A34;
name: Arrestin-C (Cone arrestin) (C-arrestin) (cArr) (Retinal cone arrestin-3) (X-arrestin)
length: 388
go: ENSG00000120500;
snps: rs11548182
sequence:

opentargets:
cytoplasm [GO:0005737]; photoreceptor inner segment [GO:0001917]; photoreceptor outer segment [GO:0001750]; synapse [GO:0045202]; opsin binding [GO:0002046]; phosphoprotein binding [GO:0051219]; endocytosis [GO:0006897]; regulation of protein phosphorylation [GO:0001932]; signal transduction [GO:0007165]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P36575-1; Sequence=Displayed; Name=2; IsoId=P36575-2; Sequence=VSP_017495; 


uniprotID: Q8N5I2
geneSymbol: ARRDC1
name: Arrestin domain-containing protein 1 (Alpha-arrestin 1)
length: 433
go: ENSG00000197070;
snps: rs35018943
sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; extracellular exosome [GO:0070062]; extracellular vesicle [GO:1903561]; plasma membrane [GO:0005886]; arrestin family protein binding [GO:1990763]; identical protein binding [GO:0042802]; protein binding, bridging involved in substrate recognition for ubiquitination [GO:1990756]; ubiquitin protein ligase binding [GO:0031625]; extracellular transport [GO:0006858]; extracellular vesicle biogenesis [GO:0140112]; negative regulation of Notch signaling pathway [GO:0045746]; protein transport [GO:0015031]; protein ubiquitination [GO:0016567]; ubiquitin-dependent protein catabolic process [GO:0006511]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22315426, ECO:0000269|PubMed:27462458}. Note=Also found in extracellular vesicles different from exosomes. {ECO:0000269|PubMed:22315426, ECO:0000269|PubMed:27462458}.


uniprotID: Q9H7U1
geneSymbol: CCSER2
length: 834
go: ENSG00000107771;
snps: rs3814205 rs11201058 rs11557865 rs12569751
name:
Serine-rich coiled-coil domain-containing protein 2 (Coiled-coil serine-rich protein 2) (Protein GCAP14 homolog)

sequence:

opentargets:
cytoplasm [GO:0005737]; microtubule cytoskeleton [GO:0015630]; microtubule binding [GO:0008017]; microtubule bundle formation [GO:0001578]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9H7U1-1; Sequence=Displayed; Name=2; IsoId=Q9H7U1-2; Sequence=VSP_029180, VSP_029181; Name=3; IsoId=Q9H7U1-3; Sequence=VSP_040287; Name=4; IsoId=Q9H7U1-4; Sequence=VSP_054560; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q3UHI0}. Note=Associates with microtubules in interphase. Has diffuse expression throughout the cell during mitosis. {ECO:0000250|UniProtKB:Q3UHI0}.


uniprotID: Q9HBK9
geneSymbol: AS3MT
reactome: R-HSA-156581;
length: 375
go: ENSG00000214435;
snps: rs35232887 rs11191439 rs34556438
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q8VHT6}.
name:
Arsenite methyltransferase (EC 2.1.1.137) (Methylarsonite methyltransferase) (S-adenosyl-L-methionine:arsenic(III) methyltransferase)

sequence:

opentargets:
cytosol [GO:0005829]; arsenite methyltransferase activity [GO:0030791]; methylarsonite methyltransferase activity [GO:0030792]; arsonoacetate metabolic process [GO:0018872]; methylation [GO:0032259]; toxin metabolic process [GO:0009404]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=An isoform missing exon 3 is produced with a premature stop codon at AA 23 and is targeted to nonsense-mediated mRNA decay (NMD).; Name=1; IsoId=Q9HBK9-1; Sequence=Displayed; Name=2; Synonyms=31.1 kDa, delta4,5; IsoId=Q9HBK9-2; Sequence=VSP_053494; Note=Devoid of methyltransferase activity.; 


uniprotID: Q8N9N2
geneSymbol: ASCC1
reactome: R-HSA-112126;
length: 400
go: ENSG00000138303;
snps: rs11558719 rs146370051
name:
Activating signal cointegrator 1 complex subunit 1 (ASC-1 complex subunit p50) (Trip4 complex subunit p50)

sequence:

opentargets:
neuromuscular junction [GO:0031594]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; RNA binding [GO:0003723]; DNA dealkylation involved in DNA repair [GO:0006307]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N9N2-1; Sequence=Displayed; Name=2; IsoId=Q8N9N2-2; Sequence=VSP_011007, VSP_011008; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12077347, ECO:0000269|PubMed:26924529}. Nucleus speckle {ECO:0000269|PubMed:29997253}. Note=Colocalizes with PRPF8 in nuclear speckles in the absence of DNA damage. {ECO:0000269|PubMed:29997253}.


uniprotID: P07307
geneSymbol: ASGR2
reactome: R-HSA-446203;
length: 311
go: ENSG00000161944;
drug: DB00025;
snps: rs2304978
location: SUBCELLULAR LOCATION: Membrane; Single-pass type II membrane protein.
name:
Asialoglycoprotein receptor 2 (ASGP-R 2) (ASGPR 2) (C-type lectin domain family 4 member H2) (Hepatic lectin H2) (HL-2)

sequence:

opentargets:
endoplasmic reticulum quality control compartment [GO:0044322]; integral component of membrane [GO:0016021]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; asialoglycoprotein receptor activity [GO:0004873]; carbohydrate binding [GO:0030246]; bone mineralization [GO:0030282]; cell surface receptor signaling pathway [GO:0007166]; lipid homeostasis [GO:0055088]; protein N-linked glycosylation via asparagine [GO:0018279]; regulation of protein stability [GO:0031647]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P07307-1; Sequence=Displayed; Name=2; IsoId=P07307-2; Sequence=VSP_003060; Name=3; IsoId=P07307-3; Sequence=VSP_003060, VSP_003061; 


uniprotID: Q5T2Q4
geneSymbol: CCNYL2
name: Cyclin-Y-like protein 2
length: 361
snps: rs2490085 rs2489720 rs2505861
sequence:

opentargets:
plasma membrane [GO:0005886]; cyclin-dependent protein serine/threonine kinase regulator activity [GO:0016538]; protein kinase binding [GO:0019901]; positive regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045737]


uniprotID: Q7L266
geneSymbol: ASRGL1
reactome: R-HSA-71182;
pdb: 3TKJ;4ET0;4O0C;4O0D;4O0E;4O0F;4O0G;4O0H;4OSX;4OSY;4PVP;4PVQ;4PVR;4PVS;4ZM9;
length: 308
go: ENSG00000162174;
drug: DB00174;DB00128;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11984834}. Note=Midpiece of sperm tail.
name:
Isoaspartyl peptidase/L-asparaginase (EC 3.4.19.5) (EC 3.5.1.1) (Asparaginase-like protein 1) (Beta-aspartyl-peptidase) (Isoaspartyl dipeptidase) (L-asparagine amidohydrolase) [Cleaved into: Isoaspartyl peptidase/L-asparaginase alpha chain; Isoaspartyl peptidase/L-asparaginase beta chain]

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; asparaginase activity [GO:0004067]; beta-aspartyl-peptidase activity [GO:0008798]; hydrolase activity [GO:0016787]; asparagine catabolic process via L-aspartate [GO:0033345]; L-phenylalanine catabolic process [GO:0006559]; protein maturation [GO:0051604]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7L266-1; Sequence=Displayed; Name=2; IsoId=Q7L266-2; Sequence=VSP_028287; Note=No experimental confirmation available.; 


uniprotID: Q92484
geneSymbol: SMPDL3A
pdb: 5EBB;5EBE;
name: Acid sphingomyelinase-like phosphodiesterase 3a (ASM-like phosphodiesterase 3a) (EC 3.1.4.-)
length: 453
go: ENSG00000172594;
snps: rs12523814 rs28385609
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:25288789}.
sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; phosphoric diester hydrolase activity [GO:0008081]; zinc ion binding [GO:0008270]; nucleoside triphosphate catabolic process [GO:0009143]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92484-1; Sequence=Displayed; Name=2; IsoId=Q92484-2; Sequence=VSP_054640; Note=No experimental confirmation available.; 


uniprotID: P17405
geneSymbol: SMPD1
reactome: R-HSA-1660662;
pdb: 5I81;5I85;5I8R;5JG8;
name: Sphingomyelin phosphodiesterase (EC 3.1.4.12) (Acid sphingomyelinase) (aSMase)
length: 631
go: ENSG00000166311;
drug: DB00381;DB00477;DB01151;
snps: rs550365194 rs1050228 rs3838786 rs35824453 rs12575136 rs1050233 rs141641266 rs1050239
sequence:

opentargets:
endosome [GO:0005768]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; lamellar body [GO:0042599]; lysosomal lumen [GO:0043202]; lysosome [GO:0005764]; plasma membrane [GO:0005886]; acid sphingomyelin phosphodiesterase activity [GO:0061750]; hydrolase activity, acting on glycosyl bonds [GO:0016798]; phosphoric diester hydrolase activity [GO:0008081]; sphingomyelin phosphodiesterase activity [GO:0004767]; zinc ion binding [GO:0008270]; ceramide biosynthetic process [GO:0046513]; glycosphingolipid metabolic process [GO:0006687]; negative regulation of MAP kinase activity [GO:0043407]; nervous system development [GO:0007399]; positive regulation of apoptotic process [GO:0043065]; positive regulation of protein dephosphorylation [GO:0035307]; response to cocaine [GO:0042220]; signal transduction [GO:0007165]; sphingomyelin catabolic process [GO:0006685]; sphingomyelin metabolic process [GO:0006684]; termination of signal transduction [GO:0023021]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=ASM-1; IsoId=P17405-1; Sequence=Displayed; Note=Most abundant (90%).; Name=2; Synonyms=ASM-2; IsoId=P17405-2; Sequence=VSP_000331, VSP_000332; Note=Intermediate abundance (10%).; Name=3; Synonyms=ASM-3; IsoId=P17405-3; Sequence=VSP_000333; Note=Low abundance (<1%).; Name=4; IsoId=P17405-4; Sequence=VSP_046964; 

location:
SUBCELLULAR LOCATION: Lysosome {ECO:0000269|PubMed:18815062, ECO:0000269|PubMed:27659707}. Secreted {ECO:0000269|PubMed:25920558, ECO:0000269|PubMed:27659707, ECO:0000269|PubMed:8702487}.


uniprotID: Q96KQ4
geneSymbol: PPP1R13B
reactome: R-HSA-139915;R-HSA-6803204;R-HSA-6803205;R-HSA-6803211;R-HSA-6804759;
name: Apoptosis-stimulating of p53 protein 1 (Protein phosphatase 1 regulatory subunit 13B)
length: 1090
go: ENSG00000088808;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; p53 binding [GO:0002039]; transcription factor binding [GO:0008134]; intrinsic apoptotic signaling pathway by p53 class mediator [GO:0072332]; negative regulation of cell cycle [GO:0045786]; positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway [GO:1900740]; regulation of apoptotic process [GO:0042981]; regulation of signal transduction by p53 class mediator [GO:1901796]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11684014}. Nucleus {ECO:0000269|PubMed:11684014}. Note=Predominantly cytoplasmic. Some fraction is nuclear.


uniprotID: O94817
geneSymbol: ATG12
reactome: R-HSA-1632852;R-HSA-5205685;R-HSA-8934903;R-HSA-936440;
pdb: 4GDK;4GDL;4NAW;
name: Ubiquitin-like protein ATG12 (Autophagy-related protein 12) (APG12-like)
length: 140
go: ENSG00000145782;
sequence:
MAEEPQSVLQLPTSIAAGGEGLTDVSPETTTPEPPSSAAVSPGTEEPAGDTKKKIDILLKAVGDTPIMKTKKWAVERTRTIQGLIDFIKKFLKLVASEQLFIYVNQSFAPSPDQEVGTLYECFGSDGKLVLHYCKSQAWG

opentargets:
Atg12-Atg5-Atg16 complex [GO:0034274]; autophagosome [GO:0005776]; cytosol [GO:0005829]; phagocytic vesicle membrane [GO:0030670]; phagophore assembly site membrane [GO:0034045]; Atg8 ligase activity [GO:0019776]; autophagosome assembly [GO:0000045]; autophagy of mitochondrion [GO:0000422]; C-terminal protein lipidation [GO:0006501]; macroautophagy [GO:0016236]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O94817-1; Sequence=Displayed; Name=2; IsoId=O94817-4; Sequence=VSP_018104, VSP_018105; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Preautophagosomal structure membrane {ECO:0000269|PubMed:22342342}; Peripheral membrane protein {ECO:0000269|PubMed:22342342}. Note=TECPR1 recruits the ATG12-ATG5 conjugate to the autolysosomal membrane.


uniprotID: O14983
geneSymbol: ATP2A1
reactome: R-HSA-1912420;R-HSA-418359;R-HSA-5578775;R-HSA-936837;
length: 1001
go: ENSG00000196296;
drug: DB04444;
snps: rs121918115
name:
Sarcoplasmic/endoplasmic reticulum calcium ATPase 1 (SERCA1) (SR Ca(2+)-ATPase 1) (EC 3.6.3.8) (Calcium pump 1) (Calcium-transporting ATPase sarcoplasmic reticulum type, fast twitch skeletal muscle isoform) (Endoplasmic reticulum class 1/2 Ca(2+) ATPase)

sequence:

opentargets:
calcium channel complex [GO:0034704]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; H zone [GO:0031673]; I band [GO:0031674]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; mitochondrion [GO:0005739]; perinuclear region of cytoplasm [GO:0048471]; platelet dense tubular network membrane [GO:0031095]; sarcoplasmic reticulum [GO:0016529]; sarcoplasmic reticulum membrane [GO:0033017]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; calcium ion binding [GO:0005509]; calcium-transporting ATPase activity [GO:0005388]; protein homodimerization activity [GO:0042803]; proton-exporting ATPase activity, phosphorylative mechanism [GO:0008553]; apoptotic mitochondrial changes [GO:0008637]; calcium ion import [GO:0070509]; calcium ion transmembrane transport [GO:0070588]; calcium ion transport [GO:0006816]; cellular calcium ion homeostasis [GO:0006874]; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress [GO:0070059]; ion transmembrane transport [GO:0034220]; maintenance of mitochondrion location [GO:0051659]; negative regulation of endoplasmic reticulum calcium ion concentration [GO:0032471]; negative regulation of striated muscle contraction [GO:0045988]; positive regulation of endoplasmic reticulum calcium ion concentration [GO:0032470]; positive regulation of fast-twitch skeletal muscle fiber contraction [GO:0031448]; positive regulation of mitochondrial calcium ion concentration [GO:0051561]; regulation of cardiac conduction [GO:1903779]; regulation of striated muscle contraction [GO:0006942]; relaxation of skeletal muscle [GO:0090076]; response to endoplasmic reticulum stress [GO:0034976]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=SERCA1B; Synonyms=ATP2A1B, Neonatal; IsoId=O14983-1; Sequence=Displayed; Name=SERCA1A; Synonyms=ATP2A1A, Adult; IsoId=O14983-2; Sequence=VSP_000355; Name=3; IsoId=O14983-3; Sequence=VSP_054770, VSP_000355; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:P04191}; Multi-pass membrane protein {ECO:0000255}. Sarcoplasmic reticulum membrane {ECO:0000250|UniProtKB:P04191}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: O43520
geneSymbol: ATP8B1
reactome: R-HSA-936837;
length: 1251
go: ENSG00000081923;
name:
Phospholipid-transporting ATPase IC (EC 7.6.2.1) (ATPase class I type 8B member 1) (Familial intrahepatic cholestasis type 1) (P4-ATPase flippase complex alpha subunit ATP8B1)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; stereocilium [GO:0032420]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; phospholipid-translocating ATPase activity [GO:0004012]; bile acid and bile salt transport [GO:0015721]; drug transmembrane transport [GO:0006855]; Golgi organization [GO:0007030]; ion transmembrane transport [GO:0034220]; negative regulation of transcription, DNA-templated [GO:0045892]; phospholipid translocation [GO:0045332]; regulation of microvillus assembly [GO:0032534]; sensory perception of sound [GO:0007605]

snps:
rs146599962 rs34719006 rs3745079 rs56355310 rs515726138 rs121909099 rs150860808 rs111033609 rs140665115 rs2271260 rs34315917 rs34018205 rs121909104 rs147642236 rs121909101 rs3745078 rs33963153 rs1202682161 rs752045131 rs121909100 rs35470719 rs1337978497 rs541474497 rs1350369369 rs34018300 rs773092889 rs121909103 rs767398921 rs121909098 rs12968116 rs1438249656 rs222581 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17948906, ECO:0000269|PubMed:20947505, ECO:0000269|PubMed:20961850, ECO:0000269|PubMed:21914794}; Multi-pass membrane protein. Apical cell membrane {ECO:0000269|PubMed:20512993}. Cell projection, stereocilium {ECO:0000250|UniProtKB:Q148W0}. Endoplasmic reticulum {ECO:0000269|PubMed:17948906, ECO:0000269|PubMed:20947505, ECO:0000269|PubMed:20961850, ECO:0000269|PubMed:21914794}. Golgi apparatus {ECO:0000269|PubMed:20961850}. Note=Exit from the endoplasmic reticulum requires the presence of TMEM30A or TMEM30B (PubMed:20947505). Localizes to apical membranes in epithelial cells (PubMed:20512993). {ECO:0000269|PubMed:20512993, ECO:0000269|PubMed:20947505}.


uniprotID: Q5VTU8
geneSymbol: ATP5EP2
name: ATP synthase subunit epsilon-like protein, mitochondrial
sequence: MVAYWRQAGLSYIRYSQICAKVVRDALKTEFKANAKKTSGNSVKIVKVKKE
length: 51
location: SUBCELLULAR LOCATION: Mitochondrion. Mitochondrion inner membrane {ECO:0000250}.
opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) [GO:0000275]; mitochondrion [GO:0005739]; proton-transporting ATP synthase activity, rotational mechanism [GO:0046933]; ATP synthesis coupled proton transport [GO:0015986]


uniprotID: P24539
geneSymbol: ATP5PB
reactome: R-HSA-163210;R-HSA-8949613;
length: 256
go: ENSG00000116459;
snps: rs1264895 rs1264895
location: SUBCELLULAR LOCATION: Mitochondrion. Mitochondrion inner membrane.
name:
ATP synthase F(0) complex subunit B1, mitochondrial (ATP synthase peripheral stalk-membrane subunit b) (ATP synthase proton-transporting mitochondrial F(0) complex subunit B1) (ATP synthase subunit b) (ATPase subunit b)

sequence:

opentargets:
membrane [GO:0016020]; mitochondrial inner membrane [GO:0005743]; mitochondrial matrix [GO:0005759]; mitochondrial proton-transporting ATP synthase complex [GO:0005753]; mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) [GO:0000276]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; proton transmembrane transporter activity [GO:0015078]; transmembrane transporter activity [GO:0022857]; ATP biosynthetic process [GO:0006754]; ATP hydrolysis coupled cation transmembrane transport [GO:0099132]; ATP synthesis coupled proton transport [GO:0015986]; cristae formation [GO:0042407]; mitochondrial ATP synthesis coupled proton transport [GO:0042776]; substantia nigra development [GO:0021762]


uniprotID: P15336
geneSymbol: ATF2
reactome: R-HSA-2151201;R-HSA-3214847;R-HSA-400253;R-HSA-450341;R-HSA-6796648;R-HSA-8943724;R-HSA-9018519;
pdb: 1BHI;1T2K;4H36;
length: 505
go: ENSG00000115966;
drug: DB00852;
name:
Cyclic AMP-dependent transcription factor ATF-2 (cAMP-dependent transcription factor ATF-2) (EC 2.3.1.48) (Activating transcription factor 2) (Cyclic AMP-responsive element-binding protein 2) (CREB-2) (cAMP-responsive element-binding protein 2) (HB16) (Histone acetyltransferase ATF2) (cAMP response element-binding protein CRE-BP1)

sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrial outer membrane [GO:0005741]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; site of double-strand break [GO:0035861]; cAMP response element binding [GO:0035497]; cAMP response element binding protein binding [GO:0008140]; chromatin binding [GO:0003682]; 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]; enhancer sequence-specific DNA binding [GO:0001158]; histone acetyltransferase activity [GO:0004402]; metal ion binding [GO:0046872]; protein heterodimerization activity [GO:0046982]; protein kinase binding [GO:0019901]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II activating transcription factor binding [GO:0001102]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription coactivator activity [GO:0003713]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; adipose tissue development [GO:0060612]; amelogenesis [GO:0097186]; cellular response to DNA damage stimulus [GO:0006974]; fat cell differentiation [GO:0045444]; intra-S DNA damage checkpoint [GO:0031573]; negative regulation of angiogenesis [GO:0016525]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of transcription by RNA polymerase II [GO:0000122]; outflow tract morphogenesis [GO:0003151]; positive regulation of cardiac muscle myoblast proliferation [GO:0110024]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of gene expression [GO:0010628]; positive regulation of mitochondrial membrane permeability involved in apoptotic process [GO:1902110]; positive regulation of neuron apoptotic process [GO:0043525]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transforming growth factor beta2 production [GO:0032915]; regulation of DNA-binding transcription factor activity [GO:0051090]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription, DNA-templated [GO:0006355]; response to osmotic stress [GO:0006970]; response to water deprivation [GO:0009414]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; IsoId=P15336-1; Sequence=Displayed; Name=2; IsoId=P15336-2; Sequence=VSP_000587, VSP_000588; Name=3; IsoId=P15336-3; Sequence=VSP_045161; Name=4; IsoId=P15336-4; Sequence=VSP_046959; Name=5; IsoId=P15336-5; Sequence=VSP_046960; Name=6; IsoId=P15336-6; Sequence=VSP_046960, VSP_047593; Name=7; IsoId=P15336-7; Sequence=VSP_046960, VSP_047594, VSP_047595; Name=8; Synonyms=ATF2-small; IsoId=P15336-8; Sequence=VSP_047593; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Mitochondrion outer membrane. Note=Shuttles between the cytoplasm and the nucleus and heterodimerization with JUN is essential for the nuclear localization. Localization to the cytoplasm is observed under conditions of cellular stress and in disease states. Localizes at the mitochondrial outer membrane in response to genotoxic stress. Phosphorylation at Thr-52 is required for its nuclear localization and negatively regulates its mitochondrial localization. Co-localizes with the MRN complex in the IR-induced foci (IRIF).


uniprotID: Q8TCU4
geneSymbol: ALMS1
reactome: R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-8854518;
name: Alstrom syndrome protein 1
length: 4168
go: ENSG00000116127;
sequence:

opentargets:
centrosome [GO:0005813]; cilium [GO:0005929]; cytosol [GO:0005829]; spindle pole [GO:0000922]; alpha-actinin binding [GO:0051393]; ciliary basal body-plasma membrane docking [GO:0097711]; endosomal transport [GO:0016197]; G2/M transition of mitotic cell cycle [GO:0000086]; positive regulation of cold-induced thermogenesis [GO:0120162]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; regulation of stress fiber assembly [GO:0051492]

snps:
rs72540761 rs2037814 rs886038612 rs6546838 rs6724782 rs6546839 rs3820700 rs2017116 rs10193972 rs34071195 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8TCU4-1; Sequence=Displayed; Name=2; IsoId=Q8TCU4-2; Sequence=VSP_017349; Note=No experimental confirmation available.; Name=3; IsoId=Q8TCU4-3; Sequence=VSP_017347, VSP_017348; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843}. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, spindle pole. Note=Associated with centrosomes and basal bodies at the base of primary cilia. Specifically locates to the proximal ends of centrioles and basal bodies. Colocalizes partially with NCAPD2 at these sites. During mitosis localizes to both spindle poles.


uniprotID: O00253
geneSymbol: AGRP
pdb: 1HYK;1MR0;2IQV;
name: Agouti-related protein
length: 132
go: ENSG00000159723;
snps: rs5030980
sequence:
MLTAAVLSCALLLALPATRGAQMGLAPMEGIRRPDQALLPELPGLGLRAPLKKTTAEQAEEDLLQEAQALAEVLDLQDREPRSSRRCVRLHESCLGQQVPCCDPCATCYCRFFNAFCYCRKLGTAMNPCSRT

opentargets:
extracellular space [GO:0005615]; Golgi lumen [GO:0005796]; neuronal cell body [GO:0043025]; neuropeptide hormone activity [GO:0005184]; signaling receptor binding [GO:0005102]; adult feeding behavior [GO:0008343]; circadian rhythm [GO:0007623]; eating behavior [GO:0042755]; feeding behavior [GO:0007631]; hormone-mediated signaling pathway [GO:0009755]; long-day photoperiodism [GO:0048571]; maternal process involved in female pregnancy [GO:0060135]; neuropeptide signaling pathway [GO:0007218]; positive regulation of feeding behavior [GO:2000253]; regulation of feeding behavior [GO:0060259]; response to insulin [GO:0032868]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:15927146}. Golgi apparatus lumen {ECO:0000269|PubMed:15927146}.


uniprotID: Q9Y4X0
geneSymbol: AMMECR1
name: AMME syndrome candidate gene 1 protein
length: 333
go: ENSG00000101935;
opentargets: nucleus [GO:0005634]
snps: rs1057519337
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:27811305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9Y4X0-1; Sequence=Displayed; Name=2; IsoId=Q9Y4X0-2; Sequence=VSP_008516; Name=3; IsoId=Q9Y4X0-3; Sequence=VSP_017058; Note=No experimental confirmation available.; Name=4; IsoId=Q9Y4X0-4; Sequence=VSP_044229; 


uniprotID: Q6DCA0
geneSymbol: AMMECR1L
name: AMMECR1-like protein
length: 310
go: ENSG00000144233;
sequence:


uniprotID: A5PLL1
geneSymbol: ANKRD34B
name: Ankyrin repeat domain-containing protein 34B
length: 514
go: ENSG00000189127;
opentargets: cytoplasm [GO:0005737]; nucleus [GO:0005634]
snps: rs32857
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus {ECO:0000250}.
sequence:


uniprotID: Q9BXX3
geneSymbol: ANKRD30A
name: Ankyrin repeat domain-containing protein 30A (Serologically defined breast cancer antigen NY-BR-1)
length: 1397
go: ENSG00000148513;
snps: rs16937417 rs1209750 rs1200875
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; regulation of transcription, DNA-templated [GO:0006355]


uniprotID: P15144
geneSymbol: ANPEP
reactome: R-HSA-2022377;R-HSA-6798695;
pdb: 4FYQ;4FYR;4FYS;4FYT;5LHD;6ATK;
length: 967
go: ENSG00000166825;
drug: DB00973;DB06196;
snps: rs10152474 rs25653 rs17240268 rs8179199 rs17240212 rs8192297 rs25651
name:
Aminopeptidase N (AP-N) (hAPN) (EC 3.4.11.2) (Alanyl aminopeptidase) (Aminopeptidase M) (AP-M) (Microsomal aminopeptidase) (Myeloid plasma membrane glycoprotein CD13) (gp150) (CD antigen CD13)

sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; aminopeptidase activity [GO:0004177]; metalloaminopeptidase activity [GO:0070006]; metallopeptidase activity [GO:0008237]; peptide binding [GO:0042277]; signaling receptor activity [GO:0038023]; virus receptor activity [GO:0001618]; zinc ion binding [GO:0008270]; angiogenesis [GO:0001525]; cell differentiation [GO:0030154]; neutrophil degranulation [GO:0043312]; peptide catabolic process [GO:0043171]; proteolysis [GO:0006508]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:2564851, ECO:0000269|PubMed:9056417}; Single-pass type II membrane protein {ECO:0000305|PubMed:1350662}. Note=Also found as a soluble form. {ECO:0000269|PubMed:7902291}.


uniprotID: Q6ZMN8
geneSymbol: CCNI2
name: Cyclin-I2
length: 369
go: ENSG00000205089;
snps: rs803056
sequence:

opentargets:
cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; cytoplasm [GO:0005737]; nucleus [GO:0005634]; cyclin-dependent protein serine/threonine kinase regulator activity [GO:0016538]; protein kinase binding [GO:0019901]; mitotic cell cycle [GO:0000278]; positive regulation of cell cycle [GO:0045787]; positive regulation of cell proliferation [GO:0008284]; protein phosphorylation [GO:0006468]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; regulation of mitotic nuclear division [GO:0007088]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6ZMN8-1; Sequence=Displayed; Name=2; IsoId=Q6ZMN8-2; Sequence=VSP_057180; Note=No experimental confirmation available.; Name=3; IsoId=Q6ZMN8-3; Sequence=VSP_057179; Note=No experimental confirmation available.; 


uniprotID: Q9ULG6
geneSymbol: CCPG1
name: Cell cycle progression protein 1 (Cell cycle progression restoration protein 8)
length: 757
go: ENSG00000260916;
sequence:

opentargets:
integral component of membrane [GO:0016021]; cell cycle [GO:0007049]; positive regulation of cell cycle [GO:0045787]; positive regulation of cell proliferation [GO:0008284]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of Rho guanyl-nucleotide exchange factor activity [GO:2001106]

snps:
rs11555304 rs17853336 rs34958422 rs17857026 rs1063562 rs1063563 rs1063565 rs1063564 rs1063566 rs17853335 rs17857027 rs1063567 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9ULG6-1; Sequence=Displayed; Name=2; IsoId=Q9ULG6-2; Sequence=VSP_029311, VSP_029312; Note=No experimental confirmation available.; Name=3; IsoId=Q9ULG6-3; Sequence=VSP_029313, VSP_029316; Name=4; IsoId=Q9ULG6-4; Sequence=VSP_029314, VSP_029315; Name=5; IsoId=Q9ULG6-5; Sequence=VSP_029316; Note=No experimental confirmation available.; 

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


uniprotID: P41597
geneSymbol: CCR2
reactome: R-HSA-1461957;R-HSA-380108;R-HSA-418594;R-HSA-6783783;
pdb: 1KAD;1KP1;2MLO;2MLQ;5T1A;
length: 374
go: ENSG00000121807;
drug: DB05159;DB05130;DB05486;
snps: rs4987052 rs1799864 rs3918387
name:
C-C chemokine receptor type 2 (C-C CKR-2) (CC-CKR-2) (CCR-2) (CCR2) (Monocyte chemoattractant protein 1 receptor) (MCP-1-R) (CD antigen CD192)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; neuronal cell body [GO:0043025]; perikaryon [GO:0043204]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; C-C chemokine binding [GO:0019957]; C-C chemokine receptor activity [GO:0016493]; CCR2 chemokine receptor binding [GO:0031727]; chemokine (C-C motif) ligand 12 binding [GO:0035716]; chemokine (C-C motif) ligand 2 binding [GO:0035715]; chemokine (C-C motif) ligand 7 binding [GO:0035717]; chemokine binding [GO:0019956]; chemokine receptor activity [GO:0004950]; protein homodimerization activity [GO:0042803]; blood vessel remodeling [GO:0001974]; calcium-mediated signaling [GO:0019722]; cell chemotaxis [GO:0060326]; cellular calcium ion homeostasis [GO:0006874]; cellular defense response [GO:0006968]; cellular homeostasis [GO:0019725]; chemokine-mediated signaling pathway [GO:0070098]; chemotaxis [GO:0006935]; cytokine-mediated signaling pathway [GO:0019221]; dendritic cell chemotaxis [GO:0002407]; G protein-coupled receptor signaling pathway [GO:0007186]; hemopoiesis [GO:0030097]; homeostasis of number of cells within a tissue [GO:0048873]; humoral immune response [GO:0006959]; immune response [GO:0006955]; inflammatory response [GO:0006954]; JAK-STAT cascade [GO:0007259]; leukocyte adhesion to vascular endothelial cell [GO:0061756]; monocyte chemotaxis [GO:0002548]; negative regulation of adenylate cyclase activity [GO:0007194]; negative regulation of angiogenesis [GO:0016525]; negative regulation of eosinophil degranulation [GO:0043310]; negative regulation of type 2 immune response [GO:0002829]; neutrophil clearance [GO:0097350]; positive regulation of alpha-beta T cell proliferation [GO:0046641]; positive regulation of astrocyte chemotaxis [GO:2000464]; positive regulation of CD8-positive, alpha-beta T cell extravasation [GO:2000451]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of hematopoietic stem cell migration [GO:2000473]; positive regulation of immune complex clearance by monocytes and macrophages [GO:0090265]; positive regulation of inflammatory response [GO:0050729]; positive regulation of interferon-gamma production [GO:0032729]; positive regulation of interleukin-2 production [GO:0032743]; positive regulation of leukocyte tethering or rolling [GO:1903238]; positive regulation of monocyte chemotaxis [GO:0090026]; positive regulation of monocyte extravasation [GO:2000439]; positive regulation of T cell activation [GO:0050870]; positive regulation of T cell chemotaxis [GO:0010820]; positive regulation of T-helper 1 type immune response [GO:0002827]; positive regulation of tumor necrosis factor biosynthetic process [GO:0042535]; regulation of vascular endothelial growth factor production [GO:0010574]; response to wounding [GO:0009611]; sensory perception of pain [GO:0019233]; T-helper 17 cell chemotaxis [GO:0035705]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=A {ECO:0000303|PubMed:9058802}; IsoId=P41597-1; Sequence=Displayed; Name=B {ECO:0000303|PubMed:9058802}; IsoId=P41597-2; Sequence=VSP_001893; Note=Mutagenesis of Leu-316 to Thr as well as Phe-320 to Asp decrease interaction with NUP85. {ECO:0000269|PubMed:27926736}; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15995708, ECO:0000269|PubMed:18587271}; Multi-pass membrane protein {ECO:0000269|PubMed:18587271}. Note=The chemoattractant receptors are distributed throughout the cell surface; after stimulation with a ligand, such as CCL2, they are rapidly recruited into microdomain clusters at the cell membrane. {ECO:0000269|PubMed:15995708}.


uniprotID: Q9NZ32
geneSymbol: ACTR10
reactome: R-HSA-2132295;R-HSA-3371497;R-HSA-6798695;R-HSA-6807878;R-HSA-6811436;
name: Actin-related protein 10 (Actin-related protein 11) (hARP11)
length: 417
go: ENSG00000131966;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}.
sequence:

opentargets:
azurophil granule lumen [GO:0035578]; cytosol [GO:0005829]; dynactin complex [GO:0005869]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; ER to Golgi vesicle-mediated transport [GO:0006888]; microtubule-based movement [GO:0007018]; neutrophil degranulation [GO:0043312]


uniprotID: P51679
geneSymbol: CCR4
reactome: R-HSA-380108;R-HSA-418594;
name: C-C chemokine receptor type 4 (C-C CKR-4) (CC-CKR-4) (CCR-4) (CCR4) (K5-5) (CD antigen CD194)
length: 360
go: ENSG00000183813;
snps: rs753825374
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; C-C chemokine binding [GO:0019957]; C-C chemokine receptor activity [GO:0016493]; chemokine binding [GO:0019956]; chemokine receptor activity [GO:0004950]; calcium-mediated signaling [GO:0019722]; cell chemotaxis [GO:0060326]; chemotaxis [GO:0006935]; G protein-coupled receptor signaling pathway [GO:0007186]; homeostasis of number of cells [GO:0048872]; immune response [GO:0006955]; inflammatory response [GO:0006954]; neuron migration [GO:0001764]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of positive chemotaxis [GO:0050927]; response to antibiotic [GO:0046677]; response to bacterium [GO:0009617]; response to radiation [GO:0009314]; tolerance induction [GO:0002507]


uniprotID: Q9C0K3
geneSymbol: ACTR3C
name: Actin-related protein 3C (Actin-related protein 11)
length: 210
go: ENSG00000106526;
sequence:

opentargets:
Arp2/3 protein complex [GO:0005885]; extracellular exosome [GO:0070062]; actin binding [GO:0003779]; ATP binding [GO:0005524]; Arp2/3 complex-mediated actin nucleation [GO:0034314]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9C0K3-1; Sequence=Displayed; Name=2; IsoId=Q9C0K3-2; Sequence=VSP_032218; Note=No experimental confirmation available.; 


uniprotID: O15145
geneSymbol: ARPC3
reactome: R-HSA-2029482;R-HSA-3928662;R-HSA-5663213;R-HSA-8856828;
name: Actin-related protein 2/3 complex subunit 3 (Arp2/3 complex 21 kDa subunit) (p21-ARC)
length: 178
go: ENSG00000111229;
drug: DB08235;
sequence:
MPAYHSSLMDPDTKLIGNMALLPIRSQFKGPAPRETKDTDIVDEAIYYFKANVFFKNYEIKNEADRTLIYITLYISECLKKLQKCNSKSQGEKEMYTLGITNFPIPGEPGFPLNAIYAKPANKQEDEVMRAYLQQLRQETGLRLCEKVFDPQNDKPSKWWTCFVKRQFMNKSLSGPGQ

opentargets:
actin cytoskeleton [GO:0015629]; Arp2/3 protein complex [GO:0005885]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; filamentous actin [GO:0031941]; focal adhesion [GO:0005925]; growth cone leading edge [GO:0061850]; lamellipodium [GO:0030027]; membrane [GO:0016020]; nucleus [GO:0005634]; site of double-strand break [GO:0035861]; actin binding [GO:0003779]; structural constituent of cytoskeleton [GO:0005200]; actin polymerization-dependent cell motility [GO:0070358]; Arp2/3 complex-mediated actin nucleation [GO:0034314]; cellular response to nerve growth factor stimulus [GO:1990090]; ephrin receptor signaling pathway [GO:0048013]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; membrane organization [GO:0061024]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:9230079, ECO:0000269|PubMed:9359840}. Cell projection {ECO:0000269|PubMed:9230079, ECO:0000269|PubMed:9359840}. Nucleus {ECO:0000269|PubMed:29925947}.


uniprotID: P59998
geneSymbol: ARPC4
reactome: R-HSA-2029482;R-HSA-3928662;R-HSA-5663213;R-HSA-8856828;
name: Actin-related protein 2/3 complex subunit 4 (Arp2/3 complex 20 kDa subunit) (p20-ARC)
length: 168
go: ENSG00000241553;
drug: DB08235;
sequence:
MTATLRPYLSAVRATLQAALCLENFSSQVVERHNKPEVEVRSSKELLLQPVTISRNEKEKVLIEGSINSVRVSIAVKQADEIEKILCHKFMRFMMMRAENFFILRRKPVEGYDISFLITNFHTEQMYKHKLVDFVIHFMEEIDKEISEMKLSVNARARIVAEEFLKNF

opentargets:
Arp2/3 protein complex [GO:0005885]; cell projection [GO:0042995]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleus [GO:0005634]; site of double-strand break [GO:0035861]; actin binding [GO:0003779]; enzyme binding [GO:0019899]; structural constituent of cytoskeleton [GO:0005200]; actin filament polymerization [GO:0030041]; actin nucleation [GO:0045010]; 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=4;  Name=1; IsoId=P59998-1; Sequence=Displayed; Name=2; IsoId=P59998-2; Sequence=VSP_046151; Note=No experimental confirmation available.; Name=3; IsoId=P59998-3; Sequence=VSP_046150; Note=No experimental confirmation available.; Name=4; IsoId=P59998-4; Sequence=VSP_046753; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:9359840}. Cell projection {ECO:0000269|PubMed:9359840}. Nucleus {ECO:0000269|PubMed:29925947}.


uniprotID: A6NK59
geneSymbol: ASB14
reactome: R-HSA-8951664;R-HSA-983168;
name: Ankyrin repeat and SOCS box protein 14 (ASB-14)
length: 587
go: ENSG00000239388;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=A6NK59-1; Sequence=Displayed; Name=2; IsoId=A6NK59-2; Sequence=VSP_036925, VSP_036926; Note=No experimental confirmation available.; Name=3; IsoId=A6NK59-3; Sequence=VSP_046197, VSP_046198; Note=No experimental confirmation available.; 


uniprotID: Q96B67
geneSymbol: ARRDC3
pdb: 4N7H;4R7V;4R7X;
name: Arrestin domain-containing protein 3 (TBP-2-like inducible membrane protein) (TLIMP)
length: 414
go: ENSG00000113369;
sequence:

opentargets:
early endosome [GO:0005769]; endosome [GO:0005768]; lysosome [GO:0005764]; plasma membrane [GO:0005886]; beta-3 adrenergic receptor binding [GO:0031699]; fat pad development [GO:0060613]; negative regulation of adenylate cyclase-activating adrenergic receptor signaling pathway [GO:0071878]; negative regulation of cold-induced thermogenesis [GO:0120163]; negative regulation of heat generation [GO:0031651]; negative regulation of locomotion involved in locomotory behavior [GO:0090327]; positive regulation of ubiquitin-protein transferase activity [GO:0051443]; skin development [GO:0043588]; temperature homeostasis [GO:0001659]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16269462, ECO:0000269|PubMed:23208550}. Cell membrane {ECO:0000269|PubMed:16269462, ECO:0000269|PubMed:20559325, ECO:0000269|PubMed:23208550}; Peripheral membrane protein {ECO:0000269|PubMed:16269462, ECO:0000269|PubMed:20559325}; Cytoplasmic side {ECO:0000269|PubMed:16269462, ECO:0000269|PubMed:20559325}. Lysosome {ECO:0000269|PubMed:16269462, ECO:0000269|PubMed:23208550}. Endosome {ECO:0000269|PubMed:16269462, ECO:0000269|PubMed:23208550}. Early endosome {ECO:0000269|PubMed:20559325, ECO:0000269|PubMed:23208550}. Note=Associated with plasma membrane, as well as with endosomes and lysosomes during endocytosis (PubMed:16269462, PubMed:23208550, PubMed:20559325). {ECO:0000269|PubMed:16269462, ECO:0000269|PubMed:20559325, ECO:0000269|PubMed:23208550}.


uniprotID: Q8NCT1
geneSymbol: ARRDC4
name: Arrestin domain-containing protein 4
length: 418
go: ENSG00000140450;
snps: rs12101554 rs17856817 rs2130882
sequence:

opentargets:
early endosome [GO:0005769]; endosome [GO:0005768]; extracellular vesicle [GO:1903561]; plasma membrane [GO:0005886]; protein binding, bridging involved in substrate recognition for ubiquitination [GO:1990756]; extracellular vesicle biogenesis [GO:0140112]; positive regulation of ubiquitin-protein transferase activity [GO:0051443]; protein transport [GO:0015031]; protein ubiquitination [GO:0016567]

location:
SUBCELLULAR LOCATION: Early endosome {ECO:0000269|PubMed:23208550}. Cell membrane {ECO:0000269|PubMed:23208550, ECO:0000269|PubMed:23236378}; Peripheral membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Cytoplasmic vesicle {ECO:0000269|PubMed:23236378}. Note=Also found in extracellular vesicles different from exosomes. {ECO:0000250|UniProtKB:A0A0B4J1F4}.


uniprotID: Q9Y576
geneSymbol: ASB1
reactome: R-HSA-8951664;R-HSA-983168;
name: Ankyrin repeat and SOCS box protein 1 (ASB-1)
length: 335
go: ENSG00000065802;
sequence:

opentargets:
cytosol [GO:0005829]; ubiquitin ligase complex [GO:0000151]; intracellular signal transduction [GO:0035556]; male genitalia development [GO:0030539]; negative regulation of cytokine biosynthetic process [GO:0042036]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]


uniprotID: O14618
geneSymbol: CCS
reactome: R-HSA-3299685;
pdb: 1DO5;2CRL;2RSQ;
name: Copper chaperone for superoxide dismutase (Superoxide dismutase copper chaperone)
length: 274
go: ENSG00000173992;
snps: rs142340643
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9726962}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular space [GO:0005615]; nucleus [GO:0005634]; cadherin binding [GO:0045296]; copper ion binding [GO:0005507]; protein disulfide oxidoreductase activity [GO:0015035]; superoxide dismutase activity [GO:0004784]; superoxide dismutase copper chaperone activity [GO:0016532]; zinc ion binding [GO:0008270]; cellular response to oxidative stress [GO:0034599]; metal ion transport [GO:0030001]; positive regulation of oxidoreductase activity [GO:0051353]; protein maturation by copper ion transfer [GO:0015680]; removal of superoxide radicals [GO:0019430]; superoxide metabolic process [GO:0006801]


uniprotID: Q8N3C0
geneSymbol: ASCC3
reactome: R-HSA-112126;
length: 2202
go: ENSG00000112249;
name:
Activating signal cointegrator 1 complex subunit 3 (EC 3.6.4.12) (ASC-1 complex subunit p200) (ASC1p200) (Helicase, ATP binding 1) (Trip4 complex subunit p200)

sequence:

opentargets:
activating signal cointegrator 1 complex [GO:0099053]; cytosol [GO:0005829]; intracellular [GO:0005622]; membrane [GO:0016020]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; ATP-dependent 3'-5' DNA helicase activity [GO:0043140]; ATP-dependent helicase activity [GO:0008026]; RNA binding [GO:0003723]; cell proliferation [GO:0008283]; DNA dealkylation involved in DNA repair [GO:0006307]; DNA duplex unwinding [GO:0032508]

snps:
rs9390698 rs6918004 rs7750940 rs57534235 rs9497983 rs17246013 rs17305382 rs35011147 rs3213542 rs240780 rs240768 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N3C0-1; Sequence=Displayed; Name=2; IsoId=Q8N3C0-3; Sequence=VSP_042955, VSP_042956; Name=3; IsoId=Q8N3C0-4; Sequence=VSP_042957, VSP_042958; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12077347, ECO:0000269|PubMed:29144457}. Nucleus speckle {ECO:0000269|PubMed:29144457, ECO:0000269|PubMed:29997253}. Note=Colocalizes with ALKBH3 and ASCC2 in nuclear foci when cells have been exposed to alkylating agents that cause DNA damage. {ECO:0000269|PubMed:29144457}.


uniprotID: Q9Y575
geneSymbol: ASB3
reactome: R-HSA-8951664;R-HSA-983168;
name: Ankyrin repeat and SOCS box protein 3 (ASB-3)
length: 518
go: ENSG00000115239;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y575-1; Sequence=Displayed; Name=2; IsoId=Q9Y575-2; Sequence=VSP_036392; Note=No experimental confirmation available.; Name=3; IsoId=Q9Y575-3; Sequence=VSP_044606; Note=No experimental confirmation available.; 


uniprotID: P50553
geneSymbol: ASCL1
name: Achaete-scute homolog 1 (ASH-1) (hASH1) (Class A basic helix-loop-helix protein 46) (bHLHa46)
length: 236
go: ENSG00000139352;
snps: rs1803157
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q02067}.
sequence:

opentargets:
neuronal cell body [GO:0043025]; nucleus [GO:0005634]; RNA polymerase II transcription factor complex [GO:0090575]; bHLH transcription factor binding [GO:0043425]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; E-box binding [GO:0070888]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription factor binding [GO:0008134]; adrenal chromaffin cell differentiation [GO:0061104]; carotid body glomus cell differentiation [GO:0061103]; cell maturation [GO:0048469]; cellular response to magnetism [GO:0071259]; central nervous system neuron development [GO:0021954]; cerebral cortex development [GO:0021987]; cerebral cortex GABAergic interneuron differentiation [GO:0021892]; commitment of neuronal cell to specific neuron type in forebrain [GO:0021902]; heart development [GO:0007507]; lung epithelial cell differentiation [GO:0060487]; lung neuroendocrine cell differentiation [GO:0061100]; musculoskeletal movement, spinal reflex action [GO:0050883]; negative regulation of apoptotic process [GO:0043066]; negative regulation of neuron differentiation [GO:0045665]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; neuroblast fate determination [GO:0007400]; neuroblast proliferation [GO:0007405]; neurogenesis [GO:0022008]; neuron development [GO:0048666]; neuron differentiation [GO:0030182]; neuron fate commitment [GO:0048663]; neuron fate specification [GO:0048665]; neuron migration [GO:0001764]; noradrenergic neuron development [GO:0003358]; noradrenergic neuron fate commitment [GO:0003359]; Notch signaling pathway [GO:0007219]; olfactory pit development [GO:0060166]; oligodendrocyte development [GO:0014003]; positive regulation of cell cycle [GO:0045787]; positive regulation of neural precursor cell proliferation [GO:2000179]; positive regulation of neuron apoptotic process [GO:0043525]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of Notch signaling pathway [GO:0045747]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of epithelial cell differentiation [GO:0030856]; regulation of gene expression [GO:0010468]; regulation of mitotic cell cycle [GO:0007346]; regulation of neurogenesis [GO:0050767]; regulation of timing of subpallium neuron differentiation [GO:0060165]; regulation of transcription by RNA polymerase II [GO:0006357]; response to epidermal growth factor [GO:0070849]; response to folic acid [GO:0051593]; response to lithium ion [GO:0010226]; response to retinoic acid [GO:0032526]; sensory organ development [GO:0007423]; spinal cord association neuron differentiation [GO:0021527]; spinal cord oligodendrocyte cell fate specification [GO:0021530]; stomach neuroendocrine cell differentiation [GO:0061102]; subpallium neuron fate commitment [GO:0060163]; sympathetic ganglion development [GO:0061549]; sympathetic nervous system development [GO:0048485]; ventral spinal cord interneuron fate commitment [GO:0060579]; vestibular nucleus development [GO:0021750]


uniprotID: Q9H765
geneSymbol: ASB8
reactome: R-HSA-8951664;R-HSA-983168;
name: Ankyrin repeat and SOCS box protein 8 (ASB-8)
length: 288
go: ENSG00000177981;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12559969}.
sequence:


uniprotID: Q96DX5
geneSymbol: ASB9
reactome: R-HSA-8951664;R-HSA-983168;
pdb: 3D9H;3ZKJ;3ZNG;
name: Ankyrin repeat and SOCS box protein 9 (ASB-9)
length: 294
go: ENSG00000102048;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:20302626}.
sequence:

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; intracellular signal transduction [GO:0035556]; positive regulation of protein catabolic process [GO:0045732]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96DX5-1; Sequence=Displayed; Name=2; Synonyms=ASB9deltaSOCS; IsoId=Q96DX5-2; Sequence=VSP_000271; Note=Does not interact with the Elongin BC complex, likely to be a negative regulator of isoform 1.; Name=3; IsoId=Q96DX5-3; Sequence=VSP_043158, VSP_000271; Note=No experimental confirmation available.; 


uniprotID: Q7RTU5
geneSymbol: ASCL5
name: Achaete-scute homolog 5 (ASH-5) (hASH5) (Class A basic helix-loop-helix protein 47) (bHLHa47)
length: 278
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}.
sequence:

opentargets:
RNA polymerase II transcription factor complex [GO:0090575]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription factor binding [GO:0008134]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: Q9ULZ3
geneSymbol: PYCARD
reactome: R-HSA-5660668;R-HSA-6798695;R-HSA-844456;R-HSA-844615;
pdb: 1UCP;2KN6;3J63;5H8O;
length: 195
go: ENSG00000103490;
name:
Apoptosis-associated speck-like protein containing a CARD (hASC) (Caspase recruitment domain-containing protein 5) (PYD and CARD domain-containing protein) (Target of methylation-induced silencing 1)

sequence:
MGRARDAILDALENLTAEELKKFKLKLLSVPLREGYGRIPRGALLSMDALDLTDKLVSFYLETYGAELTANVLRDMGLQEMAGQLQAATHQGSGAAPAGIQAPPQSAAKPGLHFIDQHRAALIARVTNVEWLLDALYGKVLTDEQYQAVRAEPTNPSKMRKLFSFTPAWNWTCKDLLLQALRESQSYLVEDLERS

opentargets:
AIM2 inflammasome complex [GO:0097169]; azurophil granule lumen [GO:0035578]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; extracellular region [GO:0005576]; IkappaB kinase complex [GO:0008385]; mitochondrion [GO:0005739]; neuronal cell body [GO:0043025]; NLRP1 inflammasome complex [GO:0072558]; NLRP3 inflammasome complex [GO:0072559]; nucleolus [GO:0005730]; nucleus [GO:0005634]; secretory granule lumen [GO:0034774]; BMP receptor binding [GO:0070700]; cysteine-type endopeptidase activator activity involved in apoptotic process [GO:0008656]; cysteine-type endopeptidase activity involved in apoptotic process [GO:0097153]; enzyme binding [GO:0019899]; identical protein binding [GO:0042802]; interleukin-6 receptor binding [GO:0005138]; ion channel binding [GO:0044325]; myosin I binding [GO:0017024]; protease binding [GO:0002020]; protein dimerization activity [GO:0046983]; protein homodimerization activity [GO:0042803]; Pyrin domain binding [GO:0032090]; tropomyosin binding [GO:0005523]; activation of cysteine-type endopeptidase activity [GO:0097202]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; activation of innate immune response [GO:0002218]; apoptotic process [GO:0006915]; cellular response to interleukin-1 [GO:0071347]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to tumor necrosis factor [GO:0071356]; defense response to Gram-negative bacterium [GO:0050829]; defense response to virus [GO:0051607]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; interleukin-1 beta production [GO:0032611]; intrinsic apoptotic signaling pathway by p53 class mediator [GO:0072332]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:0042771]; macropinocytosis [GO:0044351]; myeloid dendritic cell activation [GO:0001773]; myeloid dendritic cell activation involved in immune response [GO:0002277]; negative regulation of cytokine production involved in inflammatory response [GO:1900016]; negative regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043124]; negative regulation of interferon-beta production [GO:0032688]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of protein serine/threonine kinase activity [GO:0071901]; neutrophil degranulation [GO:0043312]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of activated T cell proliferation [GO:0042104]; positive regulation of adaptive immune response [GO:0002821]; positive regulation of antigen processing and presentation of peptide antigen via MHC class II [GO:0002588]; positive regulation of apoptotic process [GO:0043065]; positive regulation of chemokine secretion [GO:0090197]; positive regulation of cysteine-type endopeptidase activity [GO:2001056]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of defense response to virus by host [GO:0002230]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of extrinsic apoptotic signaling pathway [GO:2001238]; positive regulation of interferon-gamma production [GO:0032729]; positive regulation of interleukin-1 beta secretion [GO:0050718]; positive regulation of interleukin-10 secretion [GO:2001181]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of interleukin-6 secretion [GO:2000778]; positive regulation of interleukin-8 secretion [GO:2000484]; positive regulation of JNK cascade [GO:0046330]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of phagocytosis [GO:0050766]; positive regulation of release of cytochrome c from mitochondria [GO:0090200]; positive regulation of T cell activation [GO:0050870]; positive regulation of T cell migration [GO:2000406]; positive regulation of tumor necrosis factor production [GO:0032760]; protein homooligomerization [GO:0051260]; regulation of autophagy [GO:0010506]; regulation of GTPase activity [GO:0043087]; regulation of intrinsic apoptotic signaling pathway [GO:2001242]; regulation of protein stability [GO:0031647]; regulation of tumor necrosis factor-mediated signaling pathway [GO:0010803]; signal transduction [GO:0007165]; tumor necrosis factor-mediated signaling pathway [GO:0033209]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=fASC; IsoId=Q9ULZ3-1; Sequence=Displayed; Name=2; Synonyms=Asc-b, vASC; IsoId=Q9ULZ3-2; Sequence=VSP_004119; Name=3; Synonyms=Asc-c; IsoId=Q9ULZ3-3; Sequence=VSP_004118; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Endoplasmic reticulum. Mitochondrion. Nucleus. Note=Upstream of caspase activation, a redistribution from the cytoplasm to the aggregates occurs. These appear as hollow, perinuclear spherical, ball-like structures. Upon NLRP3 inflammasome activation redistributes to the perinuclear space localizing to endoplasmic reticulum and mitochondria. Localized primarily to the nucleus in resting monocytes/macrophages and rapidly redistributed to the cytoplasm upon pathogen infection. Localized to large cytoplasmic aggregate appearing as a speck containing AIM2, PYCARD, CASP8 and bacterial DNA after infection with Francisella tularensis (By similarity). {ECO:0000250}.


uniprotID: Q9NR48
geneSymbol: ASH1L
reactome: R-HSA-3214841;
pdb: 3MQM;3OPE;4YNM;4YNP;4YPA;4YPE;4YPU;
length: 2969
go: ENSG00000116539;
snps: rs186255422 rs539982914 rs13373934 rs4971053 rs753734834
name:
Histone-lysine N-methyltransferase ASH1L (EC 2.1.1.43) (ASH1-like protein) (huASH1) (Absent small and homeotic disks protein 1 homolog) (Lysine N-methyltransferase 2H)

sequence:

opentargets:
bicellular tight junction [GO:0005923]; chromosome [GO:0005694]; Golgi apparatus [GO:0005794]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone methyltransferase activity (H3-K36 specific) [GO:0046975]; histone methyltransferase activity (H3-K4 specific) [GO:0042800]; histone-lysine N-methyltransferase activity [GO:0018024]; metal ion binding [GO:0046872]; cell-cell signaling [GO:0007267]; decidualization [GO:0046697]; DNA packaging [GO:0006323]; flagellated sperm motility [GO:0030317]; histone H3-K36 dimethylation [GO:0097676]; interleukin-6 production [GO:0032635]; negative regulation of acute inflammatory response [GO:0002674]; negative regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043124]; negative regulation of MAPK cascade [GO:0043409]; positive regulation of transcription by RNA polymerase II [GO:0045944]; post-embryonic development [GO:0009791]; single fertilization [GO:0007338]; skeletal system development [GO:0001501]; tarsal gland development [GO:1903699]; transcription by RNA polymerase II [GO:0006366]; uterine gland development [GO:1903709]; uterus morphogenesis [GO:0061038]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NR48-1; Sequence=Displayed; Name=2; IsoId=Q9NR48-2; Sequence=VSP_039421; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10860993}. Cell junction, tight junction {ECO:0000269|PubMed:10860993}. Chromosome {ECO:0000305|PubMed:10860993}. Note=The relevance of tight junction localization is however unclear. {ECO:0000269|PubMed:10860993}.


uniprotID: Q8N7R7
geneSymbol: CCNYL1
name: Cyclin-Y-like protein 1
length: 359
go: ENSG00000163249;
sequence:

opentargets:
plasma membrane [GO:0005886]; cyclin-dependent protein serine/threonine kinase regulator activity [GO:0016538]; protein kinase binding [GO:0019901]; flagellated sperm motility [GO:0030317]; positive regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045737]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N7R7-1; Sequence=Displayed; Name=2; IsoId=Q8N7R7-2; Sequence=VSP_029134; Name=3; IsoId=Q8N7R7-3; Sequence=VSP_029133; 


uniprotID: Q9UBL3
geneSymbol: ASH2L
reactome: R-HSA-201722;R-HSA-3214841;R-HSA-3769402;R-HSA-5617472;R-HSA-8936459;
pdb: 3RSN;3S32;3TOJ;4RIQ;4X8N;4X8P;5F6K;5F6L;6E2H;
name: Set1/Ash2 histone methyltransferase complex subunit ASH2 (ASH2-like protein)
length: 628
go: ENSG00000129691;
snps: rs34167006
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305|PubMed:17355966}.
sequence:

opentargets:
histone methyltransferase complex [GO:0035097]; MLL1 complex [GO:0071339]; MLL3/4 complex [GO:0044666]; nuclear euchromatin [GO:0005719]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; Set1C/COMPASS complex [GO:0048188]; beta-catenin binding [GO:0008013]; euchromatin binding [GO:1990188]; histone-lysine N-methyltransferase activity [GO:0018024]; metal ion binding [GO:0046872]; transcription regulatory region DNA binding [GO:0044212]; beta-catenin-TCF complex assembly [GO:1904837]; cellular response to DNA damage stimulus [GO:0006974]; hemopoiesis [GO:0030097]; histone H3-K4 methylation [GO:0051568]; positive regulation of cell proliferation [GO:0008284]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of megakaryocyte differentiation [GO:0045652]; regulation of transcription, DNA-templated [GO:0006355]; response to estrogen [GO:0043627]; transcription, DNA-templated [GO:0006351]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=ASH2L1; IsoId=Q9UBL3-1; Sequence=Displayed; Name=2; Synonyms=ASH2L2; IsoId=Q9UBL3-2; Sequence=VSP_007577, VSP_007578; Name=3; IsoId=Q9UBL3-3; Sequence=VSP_007577; Note=No experimental confirmation available. {ECO:0000244|PubMed:22814378}; 


uniprotID: P07306
geneSymbol: ASGR1
reactome: R-HSA-446203;
pdb: 1DV8;5JPV;5JQ1;
length: 291
go: ENSG00000141505;
name:
Asialoglycoprotein receptor 1 (ASGP-R 1) (ASGPR 1) (C-type lectin domain family 4 member H1) (Hepatic lectin H1) (HL-1)

sequence:

opentargets:
extracellular region [GO:0005576]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; asialoglycoprotein receptor activity [GO:0004873]; carbohydrate binding [GO:0030246]; metal ion binding [GO:0046872]; protein homodimerization activity [GO:0042803]; cellular response to extracellular stimulus [GO:0031668]; protein N-linked glycosylation via asparagine [GO:0018279]; receptor-mediated endocytosis [GO:0006898]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=H1a; IsoId=P07306-1; Sequence=Displayed; Name=H1b; Synonyms=sASGPR; IsoId=P07306-2; Sequence=VSP_044480; 

location:
SUBCELLULAR LOCATION: Isoform H1a: Membrane; Single-pass type II membrane protein.; SUBCELLULAR LOCATION: Isoform H1b: Secreted {ECO:0000269|PubMed:20886072}.


uniprotID: Q96JP9
geneSymbol: CDHR1
name: Cadherin-related family member 1 (Photoreceptor cadherin) (prCAD) (Protocadherin-21)
length: 859
go: ENSG00000148600;
snps: rs12781048 rs200880106 rs7086200 rs143662988
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; photoreceptor outer segment membrane [GO:0042622]; calcium ion binding [GO:0005509]; cell adhesion [GO:0007155]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; photoreceptor cell maintenance [GO:0045494]; photoreceptor cell morphogenesis [GO:0008594]; photoreceptor cell outer segment organization [GO:0035845]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96JP9-1; Sequence=Displayed; Name=2; IsoId=Q96JP9-2; Sequence=VSP_031190, VSP_031191; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Note=Localized at the junction between the inner and outer segments of rod and cone photoreceptors cells. Confined to the base of the OS. Localized on the edges of nascent evaginating disks on the side of the OS opposite the connecting cilium. Expressed at postnatal day 2 at the apical tip of the rod photoreceptor cells, the site of the developing OS. Colocalized with rhodopsin between postnatal days 2 and 9 at the base of the growing OS region (By similarity). {ECO:0000250}.


uniprotID: Q9BYE9
geneSymbol: CDHR2
pdb: 5CZR;
name: Cadherin-related family member 2 (Protocadherin LKC) (PC-LKC) (Protocadherin-24)
length: 1310
go: ENSG00000074276;
snps: rs6886860 rs3762960 rs11134982 rs752138 rs35018750 rs3749625 rs371676123 rs2291442 rs17078347
sequence:

opentargets:
apical plasma membrane [GO:0016324]; brush border [GO:0005903]; brush border membrane [GO:0031526]; cell junction [GO:0030054]; extracellular exosome [GO:0070062]; microvillus membrane [GO:0031528]; spanning component of plasma membrane [GO:0044214]; calcium ion binding [GO:0005509]; cell adhesion molecule binding [GO:0050839]; cell-cell adhesion mediated by cadherin [GO:0044331]; epithelial cell differentiation [GO:0030855]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; intermicrovillar adhesion [GO:0090675]; negative regulation of cell growth involved in contact inhibition [GO:0060243]; regulation of microvillus length [GO:0032532]

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:12117771, ECO:0000269|PubMed:24725409}; Single-pass type I membrane protein {ECO:0000269|PubMed:12117771, ECO:0000269|PubMed:24725409}. Cell projection, microvillus membrane {ECO:0000269|PubMed:12117771, ECO:0000269|PubMed:24725409}; Single-pass type I membrane protein {ECO:0000269|PubMed:12117771, ECO:0000269|PubMed:24725409}. Cell junction {ECO:0000269|PubMed:12117771}.


uniprotID: Q9HBB8
geneSymbol: CDHR5
length: 845
go: ENSG00000099834;
snps: rs2740374 rs2246614 rs2306066 rs2740375 rs2740379
name:
Cadherin-related family member 5 (Mu-protocadherin) (Mucin and cadherin-like protein) (Mucin-like protocadherin) (MLPCDH)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; brush border membrane [GO:0031526]; clathrin-coated pit [GO:0005905]; extracellular exosome [GO:0070062]; microvillus membrane [GO:0031528]; spanning component of plasma membrane [GO:0044214]; beta-catenin binding [GO:0008013]; calcium ion binding [GO:0005509]; cell adhesion molecule binding [GO:0050839]; cell adhesion [GO:0007155]; cell differentiation [GO:0030154]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; intermicrovillar adhesion [GO:0090675]; regulation of microvillus length [GO:0032532]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1 {ECO:0000269|PubMed:11031102, ECO:0000305}; Synonyms=MUCDHL-FL {ECO:0000303|PubMed:11031102}, MLPCDH-L {ECO:0000303|PubMed:24725409}; IsoId=Q9HBB8-1; Sequence=Displayed; Name=2 {ECO:0000305}; Synonyms=MLPCDH-S {ECO:0000303|PubMed:24725409}; IsoId=Q9HBB8-2; Sequence=VSP_050693; Name=3; IsoId=Q9HBB8-4; Sequence=VSP_050692; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:24725409}; Single-pass type I membrane protein {ECO:0000269|PubMed:24725409}. Cell projection, microvillus membrane {ECO:0000269|PubMed:24725409}; Single-pass type I membrane protein {ECO:0000269|PubMed:24725409}.


uniprotID: P20933
geneSymbol: AGA
reactome: R-HSA-6798695;
pdb: 1APY;1APZ;
length: 346
go: ENSG00000038002;
location: SUBCELLULAR LOCATION: Lysosome.
name:
N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase (EC 3.5.1.26) (Aspartylglucosaminidase) (Glycosylasparaginase) (N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase) [Cleaved into: Glycosylasparaginase alpha chain; Glycosylasparaginase beta chain]

sequence:

opentargets:
azurophil granule lumen [GO:0035578]; cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; lysosome [GO:0005764]; hydrolase activity [GO:0016787]; N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity [GO:0003948]; peptidase activity [GO:0008233]; protein self-association [GO:0043621]; neutrophil degranulation [GO:0043312]; protein deglycosylation [GO:0006517]; protein maturation [GO:0051604]

snps:
rs74626221 rs121964907 rs121964909 rs386833421 rs121964908 rs386833427 rs2228119 rs192195150 rs121964904 rs386833433 rs386833432 rs386833434 rs121964905 rs121964906 rs56849061 


uniprotID: Q13625
geneSymbol: TP53BP2
reactome: R-HSA-139915;R-HSA-6803204;R-HSA-6803205;R-HSA-6803211;R-HSA-6804759;
pdb: 1YCS;2UWQ;4A63;4IRV;
length: 1128
go: ENSG00000143514;
name:
Apoptosis-stimulating of p53 protein 2 (Bcl2-binding protein) (Bbp) (Renal carcinoma antigen NY-REN-51) (Tumor suppressor p53-binding protein 2) (53BP2) (p53-binding protein 2) (p53BP2)

sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; identical protein binding [GO:0042802]; NF-kappaB binding [GO:0051059]; p53 binding [GO:0002039]; SH3 domain binding [GO:0017124]; SH3/SH2 adaptor activity [GO:0005070]; cell cycle [GO:0007049]; intrinsic apoptotic signaling pathway by p53 class mediator [GO:0072332]; negative regulation of cell cycle [GO:0045786]; positive regulation of execution phase of apoptosis [GO:1900119]; positive regulation of neuron death [GO:1901216]; positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway [GO:1900740]; regulation of apoptotic process [GO:0042981]; regulation of signal transduction by p53 class mediator [GO:1901796]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q13625-1; Sequence=Displayed; Name=2; Synonyms=Bbp; IsoId=Q13625-2; Sequence=VSP_008010; Note=Due to Alu sequence insertion that creates a shorter but existing form that may have an alternative function.; Name=3; IsoId=Q13625-3; Sequence=VSP_043509; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region. Nucleus. Note=Predominantly found in the perinuclear region. Some small fraction is nuclear. Sequester in the cytoplasm on overexpression of DDX42.


uniprotID: O14735
geneSymbol: CDIPT
reactome: R-HSA-1483226;
length: 213
go: ENSG00000103502;
drug: DB03106;
snps: rs1802002
name:
CDP-diacylglycerol--inositol 3-phosphatidyltransferase (EC 2.7.8.11) (Phosphatidylinositol synthase) (PI synthase) (PtdIns synthase)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; alcohol binding [GO:0043178]; carbohydrate binding [GO:0030246]; CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity [GO:0003881]; diacylglycerol binding [GO:0019992]; manganese ion binding [GO:0030145]; CDP-diacylglycerol metabolic process [GO:0046341]; phosphatidylinositol biosynthetic process [GO:0006661]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O14735-1; Sequence=Displayed; Name=2; IsoId=O14735-2; Sequence=VSP_013618, VSP_013619, VSP_013620; Name=3; IsoId=O14735-3; Sequence=VSP_054767; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Golgi apparatus membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Membrane {ECO:0000269|PubMed:8110188}.


uniprotID: Q9Y284
geneSymbol: WDR83OS
name: Protein Asterix (WD repeat domain 83 opposite strand) (WDR83 opposite strand)
length: 106
opentargets: integral component of membrane [GO:0016021]
snps: rs3209404
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:
MSTNNMSDPRRPNKVLRYKPPPSECNPALDDPTPDYMNLLGMIFSMCGLMLKLKWCAWVAVYCSFISFANSRSSEDTKQMMSSFMLSISAVVMSYLQNPQPMTPPW


uniprotID: Q8WWH4
geneSymbol: ASZ1
reactome: R-HSA-5601884;
length: 475
go: ENSG00000154438;
snps: rs1029396
name:
Ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1 (Ankyrin-like protein 1) (Germ cell-specific ankyrin, SAM and basic leucine zipper domain-containing protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; pi-body [GO:0071546]; cell differentiation [GO:0030154]; DNA methylation involved in gamete generation [GO:0043046]; gene silencing by RNA [GO:0031047]; male meiotic nuclear division [GO:0007140]; multicellular organism development [GO:0007275]; piRNA metabolic process [GO:0034587]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WWH4-1; Sequence=Displayed; Name=2; IsoId=Q8WWH4-2; Sequence=VSP_056918; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Note=Component of the meiotic nuage, also named P granule, a germ-cell-specific organelle required to repress transposon activity during meiosis. Specifically localizes to pi-bodies, a subset of the nuage which contains primary piRNAs (By similarity). {ECO:0000250}.


uniprotID: Q14CW9
geneSymbol: ATXN7L3
reactome: R-HSA-3214847;
pdb: 2KKT;
name: Ataxin-7-like protein 3 (SAGA-associated factor 11 homolog)
length: 347
go: ENSG00000087152;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|HAMAP-Rule:MF_03047, ECO:0000269|PubMed:27601583}.
sequence:

opentargets:
DUBm complex [GO:0071819]; nucleus [GO:0005634]; SAGA complex [GO:0000124]; nuclear receptor transcription coactivator activity [GO:0030374]; transcription coactivator activity [GO:0003713]; zinc ion binding [GO:0008270]; histone deubiquitination [GO:0016578]; histone monoubiquitination [GO:0010390]; positive regulation of transcription, DNA-templated [GO:0045893]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14CW9-1; Sequence=Displayed; Name=2; IsoId=Q14CW9-2; Sequence=VSP_036721; 


uniprotID: Q9HD20
geneSymbol: ATP13A1
reactome: R-HSA-936837;
name: Manganese-transporting ATPase 13A1 (EC 3.6.3.-)
length: 1204
go: ENSG00000105726;
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; ATP binding [GO:0005524]; manganese-transporting ATPase activity [GO:0015410]; metal ion binding [GO:0046872]; cellular calcium ion homeostasis [GO:0006874]; ion transmembrane transport [GO:0034220]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=A; IsoId=Q9HD20-1; Sequence=Displayed; Name=B; IsoId=Q9HD20-2; Sequence=VSP_000434, VSP_000435; Name=C; IsoId=Q9HD20-3; Sequence=VSP_000433; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:24392018}; Multi-pass membrane protein {ECO:0000269|PubMed:24392018}.


uniprotID: O60312
geneSymbol: ATP10A
reactome: R-HSA-936837;
length: 1499
go: ENSG00000206190;
name:
Probable phospholipid-transporting ATPase VA (EC 7.6.2.1) (ATPase class V type 10A) (Aminophospholipid translocase VA) (P4-ATPase flippase complex alpha subunit ATP10A)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; phospholipid-translocating ATPase activity [GO:0004012]; ion transmembrane transport [GO:0034220]; phospholipid translocation [GO:0045332]; regulation of cell shape [GO:0008360]

snps:
rs763246380 rs17116056 rs56724944 rs2066703 rs2066704 rs17555920 rs2076742 rs2076744 rs2076745 rs2076746 rs3816800 rs9324127 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60312-1; Sequence=Displayed; Name=2; IsoId=O60312-2; Sequence=VSP_056604, VSP_056605; Note=No experimental confirmation available.; 

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


uniprotID: O95260
geneSymbol: ATE1
length: 518
go: ENSG00000107669;
name:
Arginyl-tRNA--protein transferase 1 (Arginyltransferase 1) (R-transferase 1) (EC 2.3.2.8) (Arginine-tRNA--protein transferase 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; arginyltransferase activity [GO:0004057]; proteasomal protein catabolic process [GO:0010498]; protein arginylation [GO:0016598]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=ATE1-1; IsoId=O95260-1; Sequence=Displayed; Name=ATE1-2; IsoId=O95260-2; Sequence=VSP_000336; 

location:
SUBCELLULAR LOCATION: Isoform ATE1-1: Nucleus {ECO:0000250|UniProtKB:Q9Z2A5}. Cytoplasm {ECO:0000250|UniProtKB:Q9Z2A5}.; SUBCELLULAR LOCATION: Isoform ATE1-2: Cytoplasm {ECO:0000250|UniProtKB:Q9Z2A5}.


uniprotID: Q9H7F0
geneSymbol: ATP13A3
length: 1226
go: ENSG00000133657;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
name:
Probable cation-transporting ATPase 13A3 (EC 3.6.3.-) (ATPase family homolog up-regulated in senescence cells 1)

sequence:

opentargets:
cell [GO:0005623]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; metal ion binding [GO:0046872]; cation transport [GO:0006812]; cellular calcium ion homeostasis [GO:0006874]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H7F0-1; Sequence=Displayed; Name=2; IsoId=Q9H7F0-2; Sequence=VSP_007314, VSP_036300, VSP_007315, VSP_007316; Note=Dubious isoform produced through aberrant splice sites.; 


uniprotID: Q9NP70
geneSymbol: AMBN
reactome: R-HSA-381426;R-HSA-8957275;
name: Ameloblastin
length: 447
go: ENSG00000178522;
snps: rs7439186 rs72654387 rs375426598
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; growth factor activity [GO:0008083]; structural constituent of tooth enamel [GO:0030345]; biomineral tissue development [GO:0031214]; cell adhesion [GO:0007155]; cell proliferation [GO:0008283]; cellular protein metabolic process [GO:0044267]; odontogenesis of dentin-containing tooth [GO:0042475]; post-translational protein modification [GO:0043687]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NP70-1; Sequence=Displayed; Name=2; IsoId=Q9NP70-2; Sequence=VSP_000224; 


uniprotID: Q9BXL7
geneSymbol: CARD11
reactome: R-HSA-1169091;R-HSA-202424;R-HSA-2871837;R-HSA-5607764;
pdb: 4JUP;4LWD;
name: Caspase recruitment domain-containing protein 11 (CARD-containing MAGUK protein 1) (Carma 1)
length: 1154
go: ENSG00000198286;
snps: rs387907352 rs387907351 rs3735134 rs3735133 rs1064795307
sequence:

opentargets:
CBM complex [GO:0032449]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; immunological synapse [GO:0001772]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; CARD domain binding [GO:0050700]; guanylate kinase activity [GO:0004385]; B cell differentiation [GO:0030183]; B cell proliferation [GO:0042100]; Fc-epsilon receptor signaling pathway [GO:0038095]; homeostasis of number of cells [GO:0048872]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; immunoglobulin production [GO:0002377]; interleukin-2 secretion [GO:0070970]; positive regulation of B cell proliferation [GO:0030890]; positive regulation of cytokine production [GO:0001819]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of interleukin-2 biosynthetic process [GO:0045086]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of T cell proliferation [GO:0042102]; regulation of apoptotic process [GO:0042981]; regulation of B cell differentiation [GO:0045577]; regulation of T cell differentiation [GO:0045580]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]; T cell costimulation [GO:0031295]; T cell receptor signaling pathway [GO:0050852]; thymic T cell selection [GO:0045061]; TORC1 signaling [GO:0038202]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17287217}. Membrane raft {ECO:0000269|PubMed:17287217}. Note=Colocalized with DPP4 in membrane rafts. {ECO:0000269|PubMed:17287217}.


uniprotID: Q9Y243
geneSymbol: AKT3
pdb: 2X18;
length: 479
go: ENSG00000117020;
snps: rs397514606 rs397514605 rs587776935
reactome:
R-HSA-111447;R-HSA-1257604;R-HSA-1358803;R-HSA-198323;R-HSA-198693;R-HSA-199418;R-HSA-211163;R-HSA-389357;R-HSA-389513;R-HSA-392451;R-HSA-5218920;R-HSA-5628897;R-HSA-5674400;R-HSA-6804757;R-HSA-6804758;R-HSA-6804759;R-HSA-69202;R-HSA-69656;R-HSA-8876198;R-HSA-8941332;R-HSA-8948751;

name:
RAC-gamma serine/threonine-protein kinase (EC 2.7.11.1) (Protein kinase Akt-3) (Protein kinase B gamma) (PKB gamma) (RAC-PK-gamma) (STK-2)

sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; nucleus [GO:0005634]; ATP binding [GO:0005524]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; brain morphogenesis [GO:0048854]; homeostasis of number of cells within a tissue [GO:0048873]; intracellular signal transduction [GO:0035556]; mitochondrial genome maintenance [GO:0000002]; negative regulation of cellular senescence [GO:2000773]; peptidyl-serine phosphorylation [GO:0018105]; positive regulation of artery morphogenesis [GO:1905653]; positive regulation of blood vessel endothelial cell migration [GO:0043536]; positive regulation of cell migration involved in sprouting angiogenesis [GO:0090050]; positive regulation of cell size [GO:0045793]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of TOR signaling [GO:0032008]; positive regulation of vascular endothelial cell proliferation [GO:1905564]; protein phosphorylation [GO:0006468]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=PKB gamma; IsoId=Q9Y243-1; Sequence=Displayed; Name=2; Synonyms=PKB gamma 1; IsoId=Q9Y243-2; Sequence=VSP_004947; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20018949}. Cytoplasm {ECO:0000269|PubMed:20018949}. Membrane {ECO:0000269|PubMed:20018949}; Peripheral membrane protein {ECO:0000269|PubMed:20018949}. Note=Membrane-associated after cell stimulation leading to its translocation.


uniprotID: Q5VYY1
geneSymbol: ANKRD22
name: Ankyrin repeat domain-containing protein 22
length: 191
go: ENSG00000152766;
snps: rs17113412 rs17851907 rs2304804 rs7912706
sequence:
MGILYSEPICQAAYQNDFGQVWRWVKEDSSYANVQDGFNGDTPLICACRRGHVRIVSFLLRRNANVNLKNQKERTCLHYAVKKKFTFIDYLLIILLMPVLLIGYFLMVSKTKQNEALVRMLLDAGVEVNATDCYGCTALHYACEMKNQSLIPLLLEARADPTIKNKHGESSLDIARRLKFSQIELMLRKAL


uniprotID: Q9UPS8
geneSymbol: ANKRD26
name: Ankyrin repeat domain-containing protein 26
length: 1710
go: ENSG00000107890;
opentargets: centrosome [GO:0005813]; negative regulation of fat cell differentiation [GO:0045599]
snps: rs7897309 rs12359281 rs564681878 rs12572862 rs10829163 rs2274741
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UPS8-1; Sequence=Displayed; Name=2; IsoId=Q9UPS8-2; Sequence=VSP_019434, VSP_019435; Note=No experimental confirmation available.; 


uniprotID: Q06278
geneSymbol: AOX1
reactome: R-HSA-964975;
pdb: 4UHW;4UHX;5EPG;
name: Aldehyde oxidase (EC 1.2.3.1) (Aldehyde oxidase 1) (Azaheterocycle hydroxylase) (EC 1.17.3.-)
length: 1338
go: ENSG00000138356;
snps: rs58185012 rs41309768 rs56199635 rs55754655 rs141786030 rs3731722
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; 2 iron, 2 sulfur cluster binding [GO:0051537]; aldehyde oxidase activity [GO:0004031]; electron transfer activity [GO:0009055]; FAD binding [GO:0071949]; flavin adenine dinucleotide binding [GO:0050660]; geranial:oxygen oxidoreductase activity [GO:0102797]; heptaldehyde:oxygen oxidoreductase activity [GO:0102798]; identical protein binding [GO:0042802]; iron ion binding [GO:0005506]; molybdopterin cofactor binding [GO:0043546]; NAD binding [GO:0051287]; protein homodimerization activity [GO:0042803]; xanthine dehydrogenase activity [GO:0004854]; drug metabolic process [GO:0017144]; oxidation-reduction process [GO:0055114]; vitamin B6 metabolic process [GO:0042816]; xanthine catabolic process [GO:0009115]

drug:
DB00437;DB00513;DB00484;DB03516;DB04827;DB00426;DB09054;DB09078;DB00170;DB01033;DB00563;DB00157;DB00339;DB00481;DB00962;DB00909;

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18671973, ECO:0000269|PubMed:20444863, ECO:0000269|PubMed:23857892}.


uniprotID: P04083
geneSymbol: ANXA1
reactome: R-HSA-416476;R-HSA-418594;R-HSA-444473;R-HSA-445355;R-HSA-6785807;
pdb: 1AIN;1BO9;1QLS;5VFW;
length: 346
go: ENSG00000135046;
drug: DB00288;DB01234;DB00741;
name:
Annexin A1 (Annexin I) (Annexin-1) (Calpactin II) (Calpactin-2) (Chromobindin-9) (Lipocortin I) (Phospholipase A2 inhibitory protein) (p35)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; cell surface [GO:0009986]; cell-cell adherens junction [GO:0005913]; collagen-containing extracellular matrix [GO:0062023]; cornified envelope [GO:0001533]; cytoplasm [GO:0005737]; cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; early endosome membrane [GO:0031901]; endosome [GO:0005768]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extrinsic component of endosome membrane [GO:0031313]; extrinsic component of external side of plasma membrane [GO:0031232]; extrinsic component of membrane [GO:0019898]; focal adhesion [GO:0005925]; lateral plasma membrane [GO:0016328]; mast cell granule [GO:0042629]; mitochondrial membrane [GO:0031966]; motile cilium [GO:0031514]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; phagocytic cup [GO:0001891]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; sarcolemma [GO:0042383]; synaptic membrane [GO:0097060]; vesicle [GO:0031982]; cadherin binding involved in cell-cell adhesion [GO:0098641]; calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; calcium-dependent protein binding [GO:0048306]; DNA/DNA annealing activity [GO:1990814]; double-stranded DNA-dependent ATPase activity [GO:0033676]; phospholipase A2 inhibitor activity [GO:0019834]; phospholipid binding [GO:0005543]; protein binding, bridging [GO:0030674]; protein homodimerization activity [GO:0042803]; signaling receptor binding [GO:0005102]; single-stranded DNA binding [GO:0003697]; single-stranded RNA binding [GO:0003727]; structural molecule activity [GO:0005198]; actin cytoskeleton reorganization [GO:0031532]; adaptive immune response [GO:0002250]; alpha-beta T cell differentiation [GO:0046632]; arachidonic acid secretion [GO:0050482]; cell surface receptor signaling pathway [GO:0007166]; cellular response to glucocorticoid stimulus [GO:0071385]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to vascular endothelial growth factor stimulus [GO:0035924]; cytokine-mediated signaling pathway [GO:0019221]; DNA duplex unwinding [GO:0032508]; endocrine pancreas development [GO:0031018]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; gliogenesis [GO:0042063]; granulocyte chemotaxis [GO:0071621]; hepatocyte differentiation [GO:0070365]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; insulin secretion [GO:0030073]; keratinocyte differentiation [GO:0030216]; monocyte chemotaxis [GO:0002548]; myoblast migration involved in skeletal muscle regeneration [GO:0014839]; negative regulation of apoptotic process [GO:0043066]; negative regulation of exocytosis [GO:0045920]; negative regulation of interleukin-8 secretion [GO:2000483]; negative regulation of phospholipase A2 activity [GO:1900138]; negative regulation of T-helper 2 cell differentiation [GO:0045629]; neutrophil clearance [GO:0097350]; neutrophil homeostasis [GO:0001780]; peptide cross-linking [GO:0018149]; phagocytosis [GO:0006909]; positive regulation of cell migration involved in sprouting angiogenesis [GO:0090050]; positive regulation of G1/S transition of mitotic cell cycle [GO:1900087]; positive regulation of interleukin-2 production [GO:0032743]; positive regulation of neutrophil apoptotic process [GO:0033031]; positive regulation of prostaglandin biosynthetic process [GO:0031394]; positive regulation of T cell proliferation [GO:0042102]; positive regulation of T-helper 1 cell differentiation [GO:0045627]; positive regulation of vesicle fusion [GO:0031340]; positive regulation of wound healing [GO:0090303]; prolactin secretion [GO:0070459]; prostate gland development [GO:0030850]; regulation of cell proliferation [GO:0042127]; regulation of cell shape [GO:0008360]; regulation of hormone secretion [GO:0046883]; regulation of inflammatory response [GO:0050727]; regulation of interleukin-1 production [GO:0032652]; regulation of leukocyte migration [GO:0002685]; response to drug [GO:0042493]; response to estradiol [GO:0032355]; response to interleukin-1 [GO:0070555]; response to peptide hormone [GO:0043434]; response to X-ray [GO:0010165]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10772777, ECO:0000269|PubMed:19625660}. Cytoplasm {ECO:0000269|PubMed:10772777, ECO:0000269|PubMed:17008549, ECO:0000269|PubMed:19625660}. Cell projection, cilium {ECO:0000250|UniProtKB:P46193}. Cell membrane {ECO:0000269|PubMed:10772777}. Membrane {ECO:0000269|PubMed:17008549, ECO:0000269|PubMed:2532504, ECO:0000269|PubMed:8557678}; Peripheral membrane protein {ECO:0000269|PubMed:2532504, ECO:0000269|PubMed:8557678}. Endosome membrane {ECO:0000250|UniProtKB:P07150}; Peripheral membrane protein {ECO:0000250|UniProtKB:P07150}. Basolateral cell membrane {ECO:0000250|UniProtKB:P51662}. Apical cell membrane {ECO:0000250|UniProtKB:P10107}. Lateral cell membrane {ECO:0000250|UniProtKB:P10107}. Secreted {ECO:0000269|PubMed:17008549, ECO:0000269|PubMed:19625660, ECO:0000269|PubMed:25664854}. Secreted, extracellular space {ECO:0000269|PubMed:25664854}. Cell membrane {ECO:0000269|PubMed:10772777, ECO:0000269|PubMed:19625660, ECO:0000269|PubMed:25664854}; Peripheral membrane protein {ECO:0000269|PubMed:10772777, ECO:0000269|PubMed:19625660, ECO:0000269|PubMed:25664854}; Extracellular side {ECO:0000269|PubMed:10772777, ECO:0000269|PubMed:19625660, ECO:0000269|PubMed:25664854}. Secreted, exosome {ECO:0000269|PubMed:25664854}. Cytoplasmic vesicle, secretory vesicle lumen {ECO:0000269|PubMed:10772777}. Cell projection, phagocytic cup {ECO:0000250|UniProtKB:P10107}. Early endosome {ECO:0000250|UniProtKB:P19619}. Cytoplasmic vesicle membrane {ECO:0000250|UniProtKB:P19619}; Peripheral membrane protein {ECO:0000250|UniProtKB:P19619}. Note=Secreted, at least in part via exosomes and other secretory vesicles. Detected in exosomes and other extracellular vesicles (PubMed:25664854). Detected in gelatinase granules in resting neutrophils (PubMed:10772777). Secretion is increased in response to wounding and inflammation (PubMed:25664854). Secretion is increased upon T-cell activation (PubMed:17008549). Neutrophil adhesion to endothelial cells stimulates secretion via gelatinase granules, but foreign particle phagocytosis has no effect (PubMed:10772777). Colocalizes with actin fibers at phagocytic cups (By similarity). Displays calcium-dependent binding to phospholipid membranes (PubMed:2532504, PubMed:8557678). {ECO:0000250|UniProtKB:P10107, ECO:0000269|PubMed:10772777, ECO:0000269|PubMed:17008549, ECO:0000269|PubMed:2532504, ECO:0000269|PubMed:25664854, ECO:0000269|PubMed:8557678}.


uniprotID: P53680
geneSymbol: AP2S1
length: 142
go: ENSG00000042753;
snps: rs397514498 rs397514499 rs397514499
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 sigma (Adaptor protein complex AP-2 subunit sigma) (Adaptor-related protein complex 2 subunit sigma) (Clathrin assembly protein 2 sigma small chain) (Clathrin coat assembly protein AP17) (Clathrin coat-associated protein AP17) (HA2 17 kDa subunit) (Plasma membrane adaptor AP-2 17 kDa protein) (Sigma2-adaptin)

sequence:
MIRFILIQNRAGKTRLAKWYMQFDDDEKQKLIEEVHAVVTVRDAKHTNFVEFRNFKIIYRRYAGLYFCICVDVNDNNLAYLEAIHNFVEVLNEYFHNVCELDLVFNFYKVYTVVDEMFLAGEIRETSQTKVLKQLLMLQSLE

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]; plasma membrane [GO:0005886]; protein transporter activity [GO:0008565]; transporter activity [GO:0005215]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; clathrin coat assembly [GO:0048268]; 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]; regulation of defense response to virus by virus [GO:0050690]; regulation of endocytosis [GO:0030100]; Wnt signaling pathway, planar cell polarity pathway [GO:0060071]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P53680-1; Sequence=Displayed; Name=2; IsoId=P53680-2; Sequence=VSP_017352; 

location:
SUBCELLULAR LOCATION: Cell membrane. Membrane, coated pit; Peripheral membrane protein; Cytoplasmic side. 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}.


uniprotID: P05549
geneSymbol: TFAP2A
length: 437
go: ENSG00000137203;
snps: rs151344528 rs121909574 rs121909575
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12586840}.
reactome:
R-HSA-3232118;R-HSA-8864260;R-HSA-8866904;R-HSA-8866906;R-HSA-8866907;R-HSA-8866910;R-HSA-8866911;R-HSA-8869496;

name:
Transcription factor AP-2-alpha (AP2-alpha) (AP-2 transcription factor) (Activating enhancer-binding protein 2-alpha) (Activator protein 2) (AP-2)

sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; proximal promoter sequence-specific DNA binding [GO:0000987]; 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 factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000982]; transcription regulatory region DNA binding [GO:0044212]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; bone morphogenesis [GO:0060349]; cellular response to iron ion [GO:0071281]; embryonic cranial skeleton morphogenesis [GO:0048701]; embryonic forelimb morphogenesis [GO:0035115]; eyelid development in camera-type eye [GO:0061029]; inner ear morphogenesis [GO:0042472]; kidney development [GO:0001822]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell proliferation [GO:0008285]; negative regulation of reactive oxygen species metabolic process [GO:2000378]; negative regulation of transcription by competitive promoter binding [GO:0010944]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; oculomotor nerve formation [GO:0021623]; optic cup structural organization [GO:0003409]; optic vesicle morphogenesis [GO:0003404]; positive regulation of bone mineralization [GO:0030501]; positive regulation of gene expression [GO:0010628]; positive regulation of neuron apoptotic process [GO:0043525]; positive regulation of tooth mineralization [GO:0070172]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of cell differentiation [GO:0045595]; regulation of transcription by RNA polymerase II [GO:0006357]; retina layer formation [GO:0010842]; roof of mouth development [GO:0060021]; sensory perception of sound [GO:0007605]; trigeminal nerve development [GO:0021559]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; Synonyms=AP-2A; IsoId=P05549-1; Sequence=Displayed; Name=2; IsoId=P05549-5; Sequence=VSP_043268; Note=No experimental confirmation available.; Name=4; Synonyms=AP-2B; IsoId=P05549-2; Sequence=VSP_006401; Note=May be an aberrantly processed form with no significant distribution in vivo.; Name=5; IsoId=P05549-6; Sequence=VSP_047050; Note=Gene prediction based on EST data.; 


uniprotID: Q92572
geneSymbol: AP3S1
reactome: R-HSA-432722;
length: 193
go: ENSG00000177879;
snps: rs7733604
name:
AP-3 complex subunit sigma-1 (AP-3 complex subunit sigma-3A) (Adaptor-related protein complex 3 subunit sigma-1) (Clathrin-associated/assembly/adaptor protein, small 3) (Sigma-3A-adaptin) (Sigma3A-adaptin) (Sigma-adaptin 3a)

sequence:
MIKAILIFNNHGKPRLSKFYQPYSEDTQQQIIRETFHLVSKRDENVCNFLEGGLLIGGSDNKLIYRHYATLYFVFCVDSSESELGILDLIQVFVETLDKCFENVCELDLIFHVDKVHNILAEMVMGGMVLETNMNEIVTQIDAQNKLEKSEAGLAGAPARAVSAVKNMNLPEIPRNINIGDISIKVPNLPSFK

opentargets:
AP-3 adaptor complex [GO:0030123]; AP-type membrane coat adaptor complex [GO:0030119]; axon cytoplasm [GO:1904115]; cytoplasmic vesicle membrane [GO:0030659]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; transport vesicle [GO:0030133]; transporter activity [GO:0005215]; anterograde axonal transport [GO:0008089]; anterograde synaptic vesicle transport [GO:0048490]; insulin receptor signaling pathway [GO:0008286]; intracellular protein transport [GO:0006886]

location:
SUBCELLULAR LOCATION: Golgi apparatus. Cytoplasmic 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: P59780
geneSymbol: AP3S2
length: 193
go: ENSG00000157823;
name:
AP-3 complex subunit sigma-2 (AP-3 complex subunit sigma-3B) (Adaptor-related protein complex 3 subunit sigma-2) (Sigma-3B-adaptin) (Sigma3B-adaptin) (Sigma-adaptin 3b)

sequence:
MIQAILVFNNHGKPRLVRFYQRFPEEIQQQIVRETFHLVLKRDDNICNFLEGGSLIGGSDYKLIYRHYATLYFVFCVDSSESELGILDLIQVFVETLDKCFENVCELDLIFHMDKVHYILQEVVMGGMVLETNMNEIVAQIEAQNRLEKSEGGLSAAPARAVSAVKNINLPEIPRNINIGDLNIKVPNLSQFV

opentargets:
AP-3 adaptor complex [GO:0030123]; axon cytoplasm [GO:1904115]; cytoplasmic vesicle membrane [GO:0030659]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; anterograde axonal transport [GO:0008089]; anterograde synaptic vesicle transport [GO:0048490]; intracellular protein transport [GO:0006886]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P59780-1; Sequence=Displayed; Name=C15orf38-AP3S2; IsoId=Q7Z6K5-2; Sequence=External; Note=Based on a naturally occurring readthrough transcript which produces a C15orf38-AP3S2 fusion protein.; Name=3; IsoId=P59780-2; Sequence=VSP_053673, VSP_053674; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus. Cytoplasmic vesicle membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex. {ECO:0000250}.


uniprotID: Q13367
geneSymbol: AP3B2
length: 1082
go: ENSG00000103723;
name:
AP-3 complex subunit beta-2 (Adaptor protein complex AP-3 subunit beta-2) (Adaptor-related protein complex 3 subunit beta-2) (Beta-3B-adaptin) (Clathrin assembly protein complex 3 beta-2 large chain) (Neuron-specific vesicle coat protein beta-NAP)

sequence:

opentargets:
AP-3 adaptor complex [GO:0030123]; axon cytoplasm [GO:1904115]; clathrin-coated vesicle membrane [GO:0030665]; COPI-coated vesicle [GO:0030137]; Golgi apparatus [GO:0005794]; transporter activity [GO:0005215]; anterograde axonal transport [GO:0008089]; anterograde synaptic vesicle transport [GO:0048490]; intracellular protein transport [GO:0006886]; post-Golgi vesicle-mediated transport [GO:0006892]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=AP3B2_v1; IsoId=Q13367-1; Sequence=Displayed; Name=2; Synonyms=AP3B2_v2; IsoId=Q13367-2; Sequence=VSP_043905; Note=Relatively high levels in brain and testis.; Name=3; IsoId=Q13367-3; Sequence=VSP_054918; Note=No experimental confirmation available.; Name=4; IsoId=Q13367-4; Sequence=VSP_054919; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, clathrin-coated vesicle membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Golgi apparatus {ECO:0000250}. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex. {ECO:0000250}.


uniprotID: P12429
geneSymbol: ANXA3
pdb: 1AII;1AXN;
length: 323
go: ENSG00000138772;
drug: DB03994;
snps: rs5951 rs5948 rs5949 rs5941
name:
Annexin A3 (35-alpha calcimedin) (Annexin III) (Annexin-3) (Inositol 1,2-cyclic phosphate 2-phosphohydrolase) (Lipocortin III) (Placental anticoagulant protein III) (PAP-III)

sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; neuronal cell body [GO:0043025]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; specific granule [GO:0042581]; calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; calcium-dependent protein binding [GO:0048306]; phospholipase A2 inhibitor activity [GO:0019834]; animal organ regeneration [GO:0031100]; defense response to bacterium [GO:0042742]; hippocampus development [GO:0021766]; neutrophil degranulation [GO:0043312]; phagocytosis [GO:0006909]; positive regulation of angiogenesis [GO:0045766]; positive regulation of DNA metabolic process [GO:0051054]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of endothelial cell migration [GO:0010595]; response to glucocorticoid [GO:0051384]; response to growth factor [GO:0070848]


uniprotID: O14617
geneSymbol: AP3D1
pdb: 4AFI;
length: 1153
go: ENSG00000065000;
snps: rs34569645 rs25673
name:
AP-3 complex subunit delta-1 (AP-3 complex subunit delta) (Adaptor-related protein complex 3 subunit delta-1) (Delta-adaptin)

sequence:

opentargets:
AP-3 adaptor complex [GO:0030123]; axon cytoplasm [GO:1904115]; endosome membrane [GO:0010008]; glutamatergic synapse [GO:0098978]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; plasma membrane [GO:0005886]; postsynapse [GO:0098794]; presynaptic endosome [GO:0098830]; terminal bouton [GO:0043195]; transporter activity [GO:0005215]; anterograde axonal transport [GO:0008089]; anterograde synaptic vesicle transport [GO:0048490]; antigen processing and presentation, exogenous lipid antigen via MHC class Ib [GO:0048007]; endosome to melanosome transport [GO:0035646]; eye pigment biosynthetic process [GO:0006726]; Golgi to vacuole transport [GO:0006896]; intracellular protein transport [GO:0006886]; melanosome organization [GO:0032438]; neurotransmitter receptor transport, postsynaptic endosome to lysosome [GO:0098943]; positive regulation of NK T cell differentiation [GO:0051138]; protein localization to membrane [GO:0072657]; protein targeting to vacuole [GO:0006623]; regulation of sequestering of zinc ion [GO:0061088]; synaptic vesicle budding from endosome [GO:0016182]; synaptic vesicle membrane organization [GO:0048499]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=O14617-1; Sequence=Displayed; Name=2; IsoId=O14617-2; Sequence=VSP_000165, VSP_000166; Name=3; IsoId=O14617-3; Sequence=VSP_000167; Name=4; IsoId=O14617-4; Sequence=VSP_000168; Name=5; IsoId=O14617-5; Sequence=VSP_017106; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Golgi apparatus membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}.


uniprotID: P09525
geneSymbol: ANXA4
pdb: 2ZOC;
length: 319
snps: rs2228203
name:
Annexin A4 (35-beta calcimedin) (Annexin IV) (Annexin-4) (Carbohydrate-binding protein p33/p41) (Chromobindin-4) (Endonexin I) (Lipocortin IV) (P32.5) (PP4-X) (Placental anticoagulant protein II) (PAP-II) (Protein II)

sequence:

opentargets:
cell surface [GO:0009986]; collagen-containing extracellular matrix [GO:0062023]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; nuclear membrane [GO:0031965]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; vesicle membrane [GO:0012506]; calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; calcium-dependent protein binding [GO:0048306]; chondroitin sulfate binding [GO:0035374]; heparin binding [GO:0008201]; identical protein binding [GO:0042802]; NF-kappaB binding [GO:0051059]; phospholipase inhibitor activity [GO:0004859]; epithelial cell differentiation [GO:0030855]; negative regulation of apoptotic process [GO:0043066]; negative regulation of interleukin-8 secretion [GO:2000483]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; Notch signaling pathway [GO:0007219]; regulation of transcription by RNA polymerase II [GO:0006357]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P09525-1; Sequence=Displayed; Name=2; IsoId=P09525-2; Sequence=VSP_056396; Note=No experimental confirmation available.; 


uniprotID: Q9Y2T2
geneSymbol: AP3M1
reactome: R-HSA-390471;
length: 418
go: ENSG00000185009;
name:
AP-3 complex subunit mu-1 (AP-3 adaptor complex mu3A subunit) (Adaptor-related protein complex 3 subunit mu-1) (Mu-adaptin 3A) (Mu3A-adaptin)

sequence:

opentargets:
axon cytoplasm [GO:1904115]; clathrin adaptor complex [GO:0030131]; cytoplasmic vesicle membrane [GO:0030659]; Golgi apparatus [GO:0005794]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; Rab GTPase binding [GO:0017137]; anterograde axonal transport [GO:0008089]; anterograde synaptic vesicle transport [GO:0048490]; protein targeting to lysosome [GO:0006622]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Golgi apparatus. Cytoplasmic vesicle membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex. {ECO:0000250}.


uniprotID: P08133
geneSymbol: ANXA6
reactome: R-HSA-445355;
pdb: 1M9I;
length: 673
go: ENSG00000197043;
name:
Annexin A6 (67 kDa calelectrin) (Annexin VI) (Annexin-6) (Calphobindin-II) (CPB-II) (Chromobindin-20) (Lipocortin VI) (Protein III) (p68) (p70)

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; late endosome membrane [GO:0031902]; lysosomal membrane [GO:0005765]; melanosome [GO:0042470]; membrane [GO:0016020]; mitochondrion [GO:0005739]; perinuclear region of cytoplasm [GO:0048471]; actin filament binding [GO:0051015]; calcium channel activity [GO:0005262]; calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; calcium-dependent protein binding [GO:0048306]; cholesterol binding [GO:0015485]; chondroitin sulfate binding [GO:0035374]; enzyme binding [GO:0019899]; GTP binding [GO:0005525]; heparin binding [GO:0008201]; ligand-gated ion channel activity [GO:0015276]; lipid binding [GO:0008289]; phosphatidylserine binding [GO:0001786]; protein homodimerization activity [GO:0042803]; protein-containing complex binding [GO:0044877]; signaling receptor activity [GO:0038023]; apoptotic signaling pathway [GO:0097190]; biomineral tissue development [GO:0031214]; calcium ion import [GO:0070509]; growth plate cartilage chondrocyte differentiation [GO:0003418]; ion transmembrane transport [GO:0034220]; mitochondrial calcium ion homeostasis [GO:0051560]; negative regulation of sequestering of calcium ion [GO:0051283]; neural crest cell migration [GO:0001755]; protein homooligomerization [GO:0051260]; regulation of muscle contraction [GO:0006937]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P08133-1; Sequence=Displayed; Name=2; IsoId=P08133-2; Sequence=VSP_045480; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Melanosome {ECO:0000269|PubMed:17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.


uniprotID: O00189
geneSymbol: AP4M1
reactome: R-HSA-432720;
pdb: 3L81;4MDR;
length: 453
go: ENSG00000221838;
name:
AP-4 complex subunit mu-1 (AP-4 adaptor complex mu subunit) (Adaptor-related protein complex 4 subunit mu-1) (Mu subunit of AP-4) (Mu-adaptin-related protein 2) (mu-ARP2) (Mu4-adaptin) (mu4)

sequence:

opentargets:
AP-4 adaptor complex [GO:0030124]; clathrin adaptor complex [GO:0030131]; cytosol [GO:0005829]; early endosome [GO:0005769]; endosome lumen [GO:0031904]; extracellular exosome [GO:0070062]; trans-Golgi network [GO:0005802]; trans-Golgi network membrane [GO:0032588]; protein domain specific binding [GO:0019904]; Golgi to endosome transport [GO:0006895]; Golgi to lysosome transport [GO:0090160]; intracellular protein transport [GO:0006886]; protein localization [GO:0008104]; protein localization to basolateral plasma membrane [GO:1903361]; protein targeting [GO:0006605]; protein targeting to lysosome [GO:0006622]

location:
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:20230749}; Peripheral membrane protein {ECO:0000305}. Early endosome {ECO:0000269|PubMed:20230749}. Note=Found in soma and dendritic shafts of neuronal cells. {ECO:0000250|UniProtKB:Q2PWT8}.


uniprotID: Q92754
geneSymbol: TFAP2C
reactome: R-HSA-3232118;R-HSA-8866904;R-HSA-8866906;R-HSA-8866907;R-HSA-8866910;R-HSA-8866911;
length: 450
go: ENSG00000087510;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24413532}.
name:
Transcription factor AP-2 gamma (AP2-gamma) (Activating enhancer-binding protein 2 gamma) (Transcription factor ERF-1)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; cell-cell signaling [GO:0007267]; male gonad development [GO:0008584]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of gene expression, epigenetic [GO:0040029]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92754-1; Sequence=Displayed; Name=2; IsoId=Q92754-2; Sequence=VSP_056501; Note=No experimental confirmation available.; 


uniprotID: Q6VUC0
geneSymbol: TFAP2E
reactome: R-HSA-8866904;R-HSA-8866907;
name: Transcription factor AP-2-epsilon (AP2-epsilon) (Activating enhancer-binding protein 2-epsilon)
length: 442
go: ENSG00000116819;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q6VUP9}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; 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]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: O76027
geneSymbol: ANXA9
name: Annexin A9 (Annexin XXXI) (Annexin-31) (Annexin-9) (Pemphaxin)
length: 345
go: ENSG00000143412;
snps: rs16832595 rs7536645 rs16832602 rs267733 rs775255778 rs7542365
sequence:

opentargets:
cell surface [GO:0009986]; cytosol [GO:0005829]; acetylcholine receptor activity [GO:0015464]; calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; phosphatidylserine binding [GO:0001786]; phospholipid binding [GO:0005543]; protein homodimerization activity [GO:0042803]; cell-cell adhesion [GO:0098609]


uniprotID: Q02410
geneSymbol: APBA1
reactome: R-HSA-212676;R-HSA-6794361;
pdb: 1AQC;1U37;1U38;1U39;1U3B;1X11;1X45;1Y7N;
length: 837
go: ENSG00000107282;
snps: rs34788368
name:
Amyloid-beta A4 precursor protein-binding family A member 1 (Adapter protein X11alpha) (Neuron-specific X11 protein) (Neuronal Munc18-1-interacting protein 1) (Mint-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; glutamatergic synapse [GO:0098978]; Golgi apparatus [GO:0005794]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; presynaptic active zone membrane [GO:0048787]; Schaffer collateral - CA1 synapse [GO:0098685]; synapse [GO:0045202]; synaptic vesicle [GO:0008021]; amyloid-beta binding [GO:0001540]; axo-dendritic transport [GO:0008088]; cell adhesion [GO:0007155]; chemical synaptic transmission [GO:0007268]; gamma-aminobutyric acid secretion [GO:0014051]; glutamate secretion [GO:0014047]; in utero embryonic development [GO:0001701]; intracellular protein transport [GO:0006886]; locomotory behavior [GO:0007626]; multicellular organism growth [GO:0035264]; nervous system development [GO:0007399]; neurotransmitter secretion [GO:0007269]; protein-containing complex assembly [GO:0065003]; regulation of gene expression [GO:0010468]; regulation of synaptic vesicle exocytosis [GO:2000300]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q02410-1; Sequence=Displayed; Name=2; Synonyms=Mint1_826; IsoId=Q02410-2; Sequence=VSP_053518; Note=This isoform interacts with RAB6 GTPases.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20531236}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:20531236}. Nucleus {ECO:0000269|PubMed:20531236}. Note=Only about 5% of the protein is located in the nucleus.; SUBCELLULAR LOCATION: Isoform 2: Golgi apparatus {ECO:0000269|PubMed:23737971}.


uniprotID: Q99767
geneSymbol: APBA2
reactome: R-HSA-6794361;
length: 749
go: ENSG00000034053;
snps: rs8040932
name:
Amyloid-beta A4 precursor protein-binding family A member 2 (Adapter protein X11beta) (Neuron-specific X11L protein) (Neuronal Munc18-1-interacting protein 2) (Mint-2)

sequence:

opentargets:
cytoplasm [GO:0005737]; dendritic spine [GO:0043197]; plasma membrane [GO:0005886]; Schaffer collateral - CA1 synapse [GO:0098685]; synapse [GO:0045202]; synaptic vesicle [GO:0008021]; amyloid-beta binding [GO:0001540]; chemical synaptic transmission [GO:0007268]; in utero embryonic development [GO:0001701]; locomotory behavior [GO:0007626]; multicellular organism growth [GO:0035264]; nervous system development [GO:0007399]; protein transport [GO:0015031]; regulation of gene expression [GO:0010468]; regulation of synaptic vesicle exocytosis [GO:2000300]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q99767-1; Sequence=Displayed; Name=2; IsoId=Q99767-2; Sequence=VSP_045692; Note=No experimental confirmation available.; 


uniprotID: O96018
geneSymbol: APBA3
reactome: R-HSA-6794361;
pdb: 2YT7;2YT8;5UWS;
length: 575
go: ENSG00000011132;
snps: rs35932323 rs3746119 rs8102086 rs1045236
location: SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000269|PubMed:19726677}.
name:
Amyloid-beta A4 precursor protein-binding family A member 3 (Adapter protein X11gamma) (Neuron-specific X11L2 protein) (Neuronal Munc18-1-interacting protein 3) (Mint-3)

sequence:

opentargets:
cytoplasm [GO:0005737]; dendritic spine [GO:0043197]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; synapse [GO:0045202]; amyloid-beta binding [GO:0001540]; enzyme binding [GO:0019899]; enzyme inhibitor activity [GO:0004857]; chemical synaptic transmission [GO:0007268]; in utero embryonic development [GO:0001701]; negative regulation of catalytic activity [GO:0043086]; protein transport [GO:0015031]; regulation of gene expression [GO:0010468]


uniprotID: O00213
geneSymbol: APBB1
reactome: R-HSA-5693565;
pdb: 2E45;2HO2;2IDH;2OEI;3D8D;3D8E;3D8F;3DXC;3DXD;3DXE;5NQH;
name: Amyloid-beta A4 precursor protein-binding family B member 1 (Protein Fe65)
length: 710
go: ENSG00000166313;
snps: rs1800423 rs1800425
sequence:

opentargets:
cytoplasm [GO:0005737]; dendritic spine [GO:0043197]; growth cone [GO:0030426]; growth cone filopodium [GO:1990812]; growth cone lamellipodium [GO:1990761]; lamellipodium [GO:0030027]; main axon [GO:0044304]; neuronal cell body [GO:0043025]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; presynaptic membrane [GO:0042734]; protein-containing complex [GO:0032991]; synapse [GO:0045202]; amyloid-beta binding [GO:0001540]; chromatin binding [GO:0003682]; histone binding [GO:0042393]; proline-rich region binding [GO:0070064]; protein-containing complex binding [GO:0044877]; tau protein binding [GO:0048156]; transcription factor binding [GO:0008134]; apoptotic process [GO:0006915]; axonogenesis [GO:0007409]; cell cycle arrest [GO:0007050]; cellular response to DNA damage stimulus [GO:0006974]; double-strand break repair [GO:0006302]; histone H4 acetylation [GO:0043967]; negative regulation of cell growth [GO:0030308]; negative regulation of thymidylate synthase biosynthetic process [GO:0050760]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of apoptotic process [GO:0043065]; positive regulation of DNA repair [GO:0045739]; positive regulation of neuron projection development [GO:0010976]; positive regulation of protein secretion [GO:0050714]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of transcription, DNA-templated [GO:0006355]; response to iron ion [GO:0010039]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=O00213-1; Sequence=Displayed; Name=2; IsoId=O00213-2; Sequence=VSP_011658; Name=3; IsoId=O00213-3; Sequence=VSP_045326, VSP_045327, VSP_011658; Name=4; Synonyms=p60Fe65; IsoId=O00213-4; Sequence=VSP_047459; Note=Expressed preferentially in the brain.; Name=5; IsoId=O00213-5; Sequence=VSP_045326, VSP_045327; Note=No experimental confirmation available.; Name=6; IsoId=O00213-6; Sequence=VSP_054709; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane. Cytoplasm. Nucleus. Cell projection, growth cone {ECO:0000250}. Nucleus speckle. Note=Colocalizes with TSHZ3 in axonal growth cone (By similarity). In normal conditions, it mainly localizes to the cytoplasm, while a small fraction is tethered to the cell membrane via its interaction with APP. Following exposure to DNA damaging agents, it is released from cell membrane and translocates to the nucleus. Nuclear translocation is under the regulation of APP. Colocalizes with TSHZ3 in the nucleus. Colocalizes with NEK6 at the nuclear speckles. Phosphorylation at Ser-610 by SGK1 promotes its localization to the nucleus (By similarity). {ECO:0000250}.


uniprotID: Q92870
geneSymbol: APBB2
name: Amyloid-beta A4 precursor protein-binding family B member 2 (Protein Fe65-like 1)
length: 758
go: ENSG00000163697;
snps: rs4861358
sequence:

opentargets:
cytoplasm [GO:0005737]; growth cone [GO:0030426]; lamellipodium [GO:0030027]; membrane [GO:0016020]; nucleus [GO:0005634]; synapse [GO:0045202]; amyloid-beta binding [GO:0001540]; transcription factor binding [GO:0008134]; axon guidance [GO:0007411]; cell cycle arrest [GO:0007050]; extracellular matrix organization [GO:0030198]; intracellular signal transduction [GO:0035556]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell growth [GO:0030308]; neuron migration [GO:0001764]; positive regulation of apoptotic process [GO:0043065]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q92870-1; Sequence=Displayed; Name=2; IsoId=Q92870-2; Sequence=VSP_040354, VSP_040355; Name=3; IsoId=Q92870-3; Sequence=VSP_044232; Name=4; IsoId=Q92870-4; Sequence=VSP_045042; Note=No experimental confirmation available.; 


uniprotID: O95704
geneSymbol: APBB3
pdb: 2DYQ;2YSC;
name: Amyloid-beta A4 precursor protein-binding family B member 3 (Protein Fe65-like 2) (Fe65L2)
length: 486
go: ENSG00000113108;
snps: rs7715021 rs250430
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; amyloid-beta binding [GO:0001540]; transcription factor binding [GO:0008134]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=II; IsoId=O95704-1; Sequence=Displayed; Name=I; IsoId=O95704-2; Sequence=VSP_006799; Name=III; IsoId=O95704-3; Sequence=VSP_006800; Name=IV; IsoId=O95704-4; Sequence=VSP_006801; Name=I-214; IsoId=O95704-5; Sequence=VSP_047811, VSP_047813; Note=Increased expression upon apoptotic stimuli.; Name=I-245; IsoId=O95704-6; Sequence=VSP_047812, VSP_047814; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12153398}. Nucleus {ECO:0000269|PubMed:12153398}.; SUBCELLULAR LOCATION: Isoform I-214: Nucleus.; SUBCELLULAR LOCATION: Isoform I-245: Nucleus.


uniprotID: Q9H1A4
geneSymbol: ANAPC1
pdb: 4UI9;5A31;5G04;5G05;5KHR;5KHU;5L9T;5L9U;5LCW;5LGG;
length: 1944
go: ENSG00000153107;
name:
Anaphase-promoting complex subunit 1 (APC1) (Cyclosome subunit 1) (Mitotic checkpoint regulator) (Testis-specific gene 24 protein)

sequence:

opentargets:
anaphase-promoting complex [GO:0005680]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; anaphase-promoting complex-dependent catabolic process [GO:0031145]; cell division [GO:0051301]; metaphase/anaphase transition of mitotic cell cycle [GO:0007091]; protein K11-linked ubiquitination [GO:0070979]


uniprotID: Q8J025
geneSymbol: APCDD1
name: Protein APCDD1 (Adenomatosis polyposis coli down-regulated 1 protein)
length: 514
go: ENSG00000154856;
snps: rs267606659 rs3748415
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; identical protein binding [GO:0042802]; Wnt-protein binding [GO:0017147]; astrocyte cell migration [GO:0043615]; hair follicle development [GO:0001942]; negative regulation of Wnt signaling pathway [GO:0030178]; Wnt signaling pathway [GO:0016055]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:20393562}; Single-pass type I membrane protein {ECO:0000269|PubMed:20393562}.


uniprotID: Q9BZZ5
geneSymbol: API5
pdb: 3U0R;3V6A;
length: 524
go: ENSG00000166181;
snps: rs5743240 rs2862934
name:
Apoptosis inhibitor 5 (API-5) (Antiapoptosis clone 11 protein) (AAC-11) (Cell migration-inducing gene 8 protein) (Fibroblast growth factor 2-interacting factor) (FIF) (Protein XAGL)

sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; spliceosomal complex [GO:0005681]; fibroblast growth factor binding [GO:0017134]; RNA binding [GO:0003723]; apoptotic process [GO:0006915]; negative regulation of apoptotic process [GO:0043066]; negative regulation of fibroblast apoptotic process [GO:2000270]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Comment=Additional isoforms seem to exist.; Name=4; IsoId=Q9BZZ5-4; Sequence=Displayed; Name=1; Synonyms=FIF-510; IsoId=Q9BZZ5-1; Sequence=VSP_041968, VSP_041969, VSP_041972; Note=Incomplete sequence.; Name=2; Synonyms=FIF-504; IsoId=Q9BZZ5-2; Sequence=VSP_041970, VSP_041971; Name=3; Synonyms=FIF C1; IsoId=Q9BZZ5-3; Sequence=VSP_039761, VSP_039762; Note=No experimental confirmation available.; Name=5; IsoId=Q9BZZ5-5; Sequence=VSP_043289, VSP_041970, VSP_041971; Note=No experimental confirmation available.; Name=6; IsoId=Q9BZZ5-6; Sequence=VSP_057412; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11075807}. Cytoplasm {ECO:0000269|PubMed:11075807}. Note=Mainly nuclear. Can also be cytoplasmic.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm.


uniprotID: Q8WW43
geneSymbol: APH1B
name: Gamma-secretase subunit APH-1B (APH-1b) (Aph-1beta) (Presenilin-stabilization factor-like)
length: 257
go: ENSG00000138613;
snps: rs1047552
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
reactome:
R-HSA-1251985;R-HSA-193692;R-HSA-205043;R-HSA-2122948;R-HSA-2644606;R-HSA-2894862;R-HSA-2979096;R-HSA-3928665;R-HSA-9013507;R-HSA-9013700;R-HSA-9017802;

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; gamma-secretase complex [GO:0070765]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; transport vesicle [GO:0030133]; endopeptidase activity [GO:0004175]; peptidase activity [GO:0008233]; locomotory behavior [GO:0007626]; Notch receptor processing [GO:0007220]; Notch receptor processing, ligand-dependent [GO:0035333]; Notch signaling pathway [GO:0007219]; positive regulation of catalytic activity [GO:0043085]; protein processing [GO:0016485]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WW43-1; Sequence=Displayed; Name=2; IsoId=Q8WW43-2; Sequence=VSP_042945; Note=Expressed at low levels in most tissues.; 


uniprotID: Q96LR9
geneSymbol: APOLD1
name: Apolipoprotein L domain-containing protein 1 (Vascular early response gene protein)
length: 279
go: ENSG00000178878;
sequence:

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; lipid binding [GO:0008289]; angiogenesis [GO:0001525]; cell differentiation [GO:0030154]; endothelial cell activation [GO:0042118]; lipid transport [GO:0006869]; lipoprotein metabolic process [GO:0042157]; regulation of endothelial cell differentiation [GO:0045601]; response to hypoxia [GO:0001666]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96LR9-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q96LR9-2; Sequence=VSP_019960; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305|PubMed:15102925}; Multi-pass membrane protein {ECO:0000305|PubMed:15102925}.


uniprotID: P51693
geneSymbol: APLP1
pdb: 3PMR;3Q7G;3Q7L;3QMK;4RD9;4RDA;
name: Amyloid-like protein 1 (APLP) (APLP-1) [Cleaved into: C30]
length: 650
go: ENSG00000105290;
sequence:

opentargets:
basement membrane [GO:0005604]; integral component of membrane [GO:0016021]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; alpha-2A adrenergic receptor binding [GO:0031694]; alpha-2B adrenergic receptor binding [GO:0031695]; alpha-2C adrenergic receptor binding [GO:0031696]; heparin binding [GO:0008201]; identical protein binding [GO:0042802]; transition metal ion binding [GO:0046914]; animal organ morphogenesis [GO:0009887]; apoptotic process [GO:0006915]; cell adhesion [GO:0007155]; cellular response to norepinephrine stimulus [GO:0071874]; endocytosis [GO:0006897]; negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0106072]; nervous system development [GO:0007399]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P51693-1; Sequence=Displayed; Name=2; IsoId=P51693-2; Sequence=VSP_039100; 

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: C30: Cytoplasm. Note=C-terminally processed in the Golgi complex.


uniprotID: P02649
geneSymbol: APOE
pdb: 1B68;1BZ4;1EA8;1GS9;1H7I;1LE2;1LE4;1LPE;1NFN;1NFO;1OEF;1OEG;1OR2;1OR3;2KC3;2KNY;2L7B;
name: Apolipoprotein E (Apo-E)
length: 317
go: ENSG00000130203;
drug: DB00062;DB00064;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000303|PubMed:3283935}.
reactome:
R-HSA-3000480;R-HSA-381426;R-HSA-8864260;R-HSA-8957275;R-HSA-8963888;R-HSA-8963901;R-HSA-8964026;R-HSA-8964058;R-HSA-975634;

sequence:

opentargets:
blood microparticle [GO:0072562]; chylomicron [GO:0042627]; clathrin-coated endocytic vesicle membrane [GO:0030669]; collagen-containing extracellular matrix [GO:0062023]; cytoplasm [GO:0005737]; dendrite [GO:0030425]; discoidal high-density lipoprotein particle [GO:0034365]; early endosome [GO:0005769]; endocytic vesicle lumen [GO:0071682]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extracellular vesicle [GO:1903561]; glutamatergic synapse [GO:0098978]; Golgi apparatus [GO:0005794]; high-density lipoprotein particle [GO:0034364]; intermediate-density lipoprotein particle [GO:0034363]; lipoprotein particle [GO:1990777]; low-density lipoprotein particle [GO:0034362]; membrane [GO:0016020]; neuronal cell body [GO:0043025]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; synaptic cleft [GO:0043083]; very-low-density lipoprotein particle [GO:0034361]; amyloid-beta binding [GO:0001540]; antioxidant activity [GO:0016209]; cholesterol binding [GO:0015485]; cholesterol transporter activity [GO:0017127]; heparin binding [GO:0008201]; identical protein binding [GO:0042802]; lipid binding [GO:0008289]; lipid transporter activity [GO:0005319]; lipoprotein particle binding [GO:0071813]; low-density lipoprotein particle receptor binding [GO:0050750]; metal chelating activity [GO:0046911]; phosphatidylcholine-sterol O-acyltransferase activator activity [GO:0060228]; phospholipid binding [GO:0005543]; protein dimerization activity [GO:0046983]; protein homodimerization activity [GO:0042803]; protein-containing complex binding [GO:0044877]; structural molecule activity [GO:0005198]; tau protein binding [GO:0048156]; very-low-density lipoprotein particle receptor binding [GO:0070326]; AMPA glutamate receptor clustering [GO:0097113]; amyloid precursor protein metabolic process [GO:0042982]; artery morphogenesis [GO:0048844]; cellular calcium ion homeostasis [GO:0006874]; cellular protein metabolic process [GO:0044267]; cGMP-mediated signaling [GO:0019934]; cholesterol biosynthetic process [GO:0006695]; cholesterol catabolic process [GO:0006707]; cholesterol efflux [GO:0033344]; cholesterol homeostasis [GO:0042632]; cholesterol metabolic process [GO:0008203]; chylomicron assembly [GO:0034378]; chylomicron remnant clearance [GO:0034382]; chylomicron remodeling [GO:0034371]; cytoskeleton organization [GO:0007010]; fatty acid homeostasis [GO:0055089]; G protein-coupled receptor signaling pathway [GO:0007186]; high-density lipoprotein particle assembly [GO:0034380]; high-density lipoprotein particle clearance [GO:0034384]; high-density lipoprotein particle remodeling [GO:0034375]; intracellular transport [GO:0046907]; lipid transport involved in lipid storage [GO:0010877]; lipoprotein biosynthetic process [GO:0042158]; lipoprotein catabolic process [GO:0042159]; lipoprotein metabolic process [GO:0042157]; locomotory exploration behavior [GO:0035641]; long-chain fatty acid transport [GO:0015909]; long-term memory [GO:0007616]; low-density lipoprotein particle remodeling [GO:0034374]; maintenance of location in cell [GO:0051651]; negative regulation of amyloid-beta formation [GO:1902430]; negative regulation of blood coagulation [GO:0030195]; negative regulation of blood vessel endothelial cell migration [GO:0043537]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cellular protein metabolic process [GO:0032269]; negative regulation of cholesterol biosynthetic process [GO:0045541]; negative regulation of cholesterol efflux [GO:0090370]; negative regulation of dendritic spine development [GO:0061000]; negative regulation of dendritic spine maintenance [GO:1902951]; negative regulation of endothelial cell proliferation [GO:0001937]; negative regulation of gene expression [GO:0010629]; negative regulation of inflammatory response [GO:0050728]; negative regulation of lipid biosynthetic process [GO:0051055]; negative regulation of lipid transport across blood brain barrier [GO:1903001]; negative regulation of long-term synaptic potentiation [GO:1900272]; negative regulation of MAP kinase activity [GO:0043407]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of neuron death [GO:1901215]; negative regulation of neuron projection development [GO:0010977]; negative regulation of phospholipid efflux [GO:1902999]; negative regulation of platelet activation [GO:0010544]; negative regulation of postsynaptic membrane organization [GO:1901627]; negative regulation of presynaptic membrane organization [GO:1901630]; negative regulation of triglyceride metabolic process [GO:0090209]; nitric oxide mediated signal transduction [GO:0007263]; NMDA glutamate receptor clustering [GO:0097114]; phospholipid efflux [GO:0033700]; positive regulation by host of viral process [GO:0044794]; positive regulation of amyloid fibril formation [GO:1905908]; positive regulation of amyloid-beta formation [GO:1902004]; positive regulation of cholesterol efflux [GO:0010875]; positive regulation of cholesterol esterification [GO:0010873]; positive regulation of dendritic spine development [GO:0060999]; positive regulation of dendritic spine maintenance [GO:1902952]; positive regulation of endocytosis [GO:0045807]; positive regulation of heparan sulfate binding [GO:1905855]; positive regulation of heparan sulfate proteoglycan binding [GO:1905860]; positive regulation of lipid biosynthetic process [GO:0046889]; positive regulation of lipid transport across blood brain barrier [GO:1903002]; positive regulation of low-density lipoprotein particle receptor catabolic process [GO:0032805]; positive regulation of membrane protein ectodomain proteolysis [GO:0051044]; positive regulation of neurofibrillary tangle assembly [GO:1902998]; positive regulation of neuron death [GO:1901216]; positive regulation of neuron projection development [GO:0010976]; positive regulation of nitric-oxide synthase activity [GO:0051000]; positive regulation of phospholipid efflux [GO:1902995]; positive regulation of postsynaptic membrane organization [GO:1901628]; positive regulation of presynaptic membrane organization [GO:1901631]; post-translational protein modification [GO:0043687]; protein import [GO:0017038]; receptor-mediated endocytosis [GO:0006898]; regulation of amyloid fibril formation [GO:1905906]; regulation of amyloid-beta clearance [GO:1900221]; regulation of axon extension [GO:0030516]; regulation of behavioral fear response [GO:2000822]; regulation of Cdc42 protein signal transduction [GO:0032489]; regulation of cellular response to very-low-density lipoprotein particle stimulus [GO:1905890]; regulation of cholesterol metabolic process [GO:0090181]; regulation of cholesterol transport [GO:0032374]; regulation of neuron death [GO:1901214]; regulation of neuronal synaptic plasticity [GO:0048168]; regulation of protein homooligomerization [GO:0032462]; regulation of protein metabolic process [GO:0051246]; regulation of tau-protein kinase activity [GO:1902947]; regulation of transcription by RNA polymerase II [GO:0006357]; response to caloric restriction [GO:0061771]; response to dietary excess [GO:0002021]; response to reactive oxygen species [GO:0000302]; retinoid metabolic process [GO:0001523]; reverse cholesterol transport [GO:0043691]; synaptic transmission, cholinergic [GO:0007271]; triglyceride catabolic process [GO:0019433]; triglyceride homeostasis [GO:0070328]; triglyceride metabolic process [GO:0006641]; vasodilation [GO:0042311]; very-low-density lipoprotein particle clearance [GO:0034447]; very-low-density lipoprotein particle remodeling [GO:0034372]; virion assembly [GO:0019068]

snps:
rs121918392 rs201672011 rs121918399 rs769452 rs28931576 rs370594287 rs1180612218 rs11083750 rs28931577 rs937063425 rs429358 rs267606664 rs28931578 rs121918393 rs121918393 rs387906567 rs769455 rs121918397 rs121918397 rs121918394 rs121918394 rs267606662 rs7412 rs267606663 rs121918395 rs199768005 rs267606661 rs121918398 rs28931579 


uniprotID: P02749
geneSymbol: APOH
reactome: R-HSA-114608;
pdb: 1C1Z;1G4F;1G4G;1QUB;2KRI;3OP8;4JHS;
length: 345
go: ENSG00000091583;
drug: DB05446;
snps: rs3826358 rs1801692 rs8178847 rs4581 rs1801689 rs1801690
location: SUBCELLULAR LOCATION: Secreted.
name:
Beta-2-glycoprotein 1 (APC inhibitor) (Activated protein C-binding protein) (Anticardiolipin cofactor) (Apolipoprotein H) (Apo-H) (Beta-2-glycoprotein I) (B2GPI) (Beta(2)GPI)

sequence:

opentargets:
cell surface [GO:0009986]; chylomicron [GO:0042627]; collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; high-density lipoprotein particle [GO:0034364]; platelet dense granule lumen [GO:0031089]; very-low-density lipoprotein particle [GO:0034361]; heparin binding [GO:0008201]; identical protein binding [GO:0042802]; lipid binding [GO:0008289]; lipoprotein lipase activator activity [GO:0060230]; phospholipid binding [GO:0005543]; blood coagulation, intrinsic pathway [GO:0007597]; negative regulation of angiogenesis [GO:0016525]; negative regulation of blood coagulation [GO:0030195]; negative regulation of endothelial cell migration [GO:0010596]; negative regulation of endothelial cell proliferation [GO:0001937]; negative regulation of fibrinolysis [GO:0051918]; negative regulation of myeloid cell apoptotic process [GO:0033033]; negative regulation of smooth muscle cell apoptotic process [GO:0034392]; plasminogen activation [GO:0031639]; platelet degranulation [GO:0002576]; positive regulation of blood coagulation [GO:0030194]; positive regulation of lipoprotein lipase activity [GO:0051006]; regulation of fibrinolysis [GO:0051917]; triglyceride metabolic process [GO:0006641]; triglyceride transport [GO:0034197]


uniprotID: P49419
geneSymbol: ALDH7A1
reactome: R-HSA-6798163;R-HSA-71064;
pdb: 2J6L;4X0T;4X0U;4ZUK;4ZUL;4ZVW;4ZVX;4ZVY;
length: 539
go: ENSG00000164904;
drug: DB00157;
snps: rs121912709 rs121912711 rs754449549 rs2306618 rs121912707 rs12514417
name:
Alpha-aminoadipic semialdehyde dehydrogenase (Alpha-AASA dehydrogenase) (EC 1.2.1.31) (Aldehyde dehydrogenase family 7 member A1) (EC 1.2.1.3) (Antiquitin-1) (Betaine aldehyde dehydrogenase) (EC 1.2.1.8) (Delta1-piperideine-6-carboxylate dehydrogenase) (P6c dehydrogenase)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; aldehyde dehydrogenase (NAD) activity [GO:0004029]; betaine-aldehyde dehydrogenase activity [GO:0008802]; glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity [GO:0043878]; L-aminoadipate-semialdehyde dehydrogenase activity [GO:0004043]; cellular aldehyde metabolic process [GO:0006081]; choline catabolic process [GO:0042426]; glycine betaine biosynthetic process from choline [GO:0019285]; lysine catabolic process [GO:0006554]; sensory perception of sound [GO:0007605]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=hALDH7A1_v1 {ECO:0000269|PubMed:20207735}; IsoId=P49419-1; Sequence=Displayed; Name=2; Synonyms=hALDH7A1_v2 {ECO:0000269|PubMed:20207735}; IsoId=P49419-2; Sequence=VSP_038987; Name=4; IsoId=P49419-4; Sequence=VSP_045905; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:20207735}. Nucleus {ECO:0000269|PubMed:20207735}.; SUBCELLULAR LOCATION: Isoform 1: Mitochondrion {ECO:0000269|PubMed:20207735}.


uniprotID: Q4VCS5
geneSymbol: AMOT
reactome: R-HSA-2028269;
name: Angiomotin
length: 1084
go: ENSG00000126016;
sequence:

opentargets:
actin filament [GO:0005884]; bicellular tight junction [GO:0005923]; cell junction [GO:0030054]; cell surface [GO:0009986]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; endocytic vesicle [GO:0030139]; external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; lamellipodium [GO:0030027]; nucleus [GO:0005634]; ruffle [GO:0001726]; stress fiber [GO:0001725]; angiostatin binding [GO:0043532]; signaling receptor activity [GO:0038023]; actin cytoskeleton organization [GO:0030036]; blood vessel endothelial cell migration [GO:0043534]; cell migration involved in gastrulation [GO:0042074]; cell-cell junction assembly [GO:0007043]; cellular protein localization [GO:0034613]; chemotaxis [GO:0006935]; establishment of cell polarity involved in ameboidal cell migration [GO:0003365]; gastrulation with mouth forming second [GO:0001702]; hippo signaling [GO:0035329]; in utero embryonic development [GO:0001701]; negative regulation of angiogenesis [GO:0016525]; negative regulation of GTPase activity [GO:0034260]; negative regulation of vascular permeability [GO:0043116]; positive regulation of blood vessel endothelial cell migration [GO:0043536]; positive regulation of cell size [GO:0045793]; positive regulation of embryonic development [GO:0040019]; positive regulation of stress fiber assembly [GO:0051496]; regulation of cell migration [GO:0030334]; regulation of small GTPase mediated signal transduction [GO:0051056]; vasculogenesis [GO:0001570]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=p130; IsoId=Q4VCS5-1; Sequence=Displayed; Name=2; Synonyms=p80; IsoId=Q4VCS5-2; Sequence=VSP_015709; 

location:
SUBCELLULAR LOCATION: Cell junction, tight junction {ECO:0000269|PubMed:16043488}. Note=Localized on the cell surface. May act as a transmembrane protein.


uniprotID: Q5XXA6
geneSymbol: ANO1
reactome: R-HSA-2672351;
length: 986
go: ENSG00000131620;
drug: DB04941;
snps: rs2186797 rs3740722
name:
Anoctamin-1 (Discovered on gastrointestinal stromal tumors protein 1) (Oral cancer overexpressed protein 2) (Transmembrane protein 16A) (Tumor-amplified and overexpressed sequence 2)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; chloride channel complex [GO:0034707]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; plasma membrane [GO:0005886]; calcium activated cation channel activity [GO:0005227]; chloride channel activity [GO:0005254]; intracellular calcium activated chloride channel activity [GO:0005229]; iodide transmembrane transporter activity [GO:0015111]; protein dimerization activity [GO:0046983]; voltage-gated chloride channel activity [GO:0005247]; cation transport [GO:0006812]; cellular response to heat [GO:0034605]; chloride transmembrane transport [GO:1902476]; chloride transport [GO:0006821]; detection of temperature stimulus involved in sensory perception of pain [GO:0050965]; iodide transport [GO:0015705]; ion transmembrane transport [GO:0034220]; multicellular organism development [GO:0007275]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; positive regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0035774]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5XXA6-1; Sequence=Displayed; Name=2; IsoId=Q5XXA6-2; Sequence=VSP_025665, VSP_025668, VSP_025669; Note=No experimental confirmation available.; Name=3; IsoId=Q5XXA6-3; Sequence=VSP_025666, VSP_025667, VSP_025668, VSP_025669, VSP_025670, VSP_025671; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15215166, ECO:0000269|PubMed:20056604, ECO:0000269|PubMed:21984732, ECO:0000269|PubMed:22178883, ECO:0000269|PubMed:22946059}; Multi-pass membrane protein {ECO:0000255}. Cytoplasm {ECO:0000269|PubMed:16261155}. Note=Cytoplasmic localization seen in neoplastic cells of head and neck squamous cell carcinoma (HNSCC) tumors. {ECO:0000269|PubMed:16261155}.


uniprotID: Q75V66
geneSymbol: ANO5
reactome: R-HSA-2672351;
name: Anoctamin-5 (Gnathodiaphyseal dysplasia 1 protein) (Transmembrane protein 16E)
length: 913
go: ENSG00000171714;
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; vesicle [GO:0031982]; intracellular calcium activated chloride channel activity [GO:0005229]; protein dimerization activity [GO:0046983]; chloride transport [GO:0006821]; ion transmembrane transport [GO:0034220]

snps:
rs143777403 rs886043577 rs201725369 rs34994927 rs115750596 rs78266558 rs137854523 rs377553546 rs745908606 rs138144479 rs7481951 rs119103234 rs119103234 rs141799673 rs281865467 rs139618850 rs375014127 rs137854526 rs1422717390 rs760137559 rs200631556 rs137854529 rs61910685 rs766853141 rs142073798 rs34969327 rs148293985 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15124103}; Multi-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000269|PubMed:20056604, ECO:0000269|PubMed:22946059}; Multi-pass membrane protein {ECO:0000255}. Note=Colocalized with CALR/calreticulin (PubMed:15124103). Shows an intracellular localization according to PubMed:22075693. {ECO:0000269|PubMed:15124103, ECO:0000269|PubMed:22075693}.


uniprotID: Q6AI12
geneSymbol: ANKRD40
name: Ankyrin repeat domain-containing protein 40
length: 368
go: ENSG00000154945;
sequence:


uniprotID: Q8N9B4
geneSymbol: ANKRD42
name: Ankyrin repeat domain-containing protein 42
length: 389
go: ENSG00000137494;
snps: rs17515016
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N9B4-1; Sequence=Displayed; Name=2; IsoId=Q8N9B4-2; Sequence=VSP_019559, VSP_019560, VSP_019561; Note=No experimental confirmation available.; 


uniprotID: Q5TZF3
geneSymbol: ANKRD45
name: Ankyrin repeat domain-containing protein 45
length: 266
go: ENSG00000183831;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5TZF3-2; Sequence=Displayed; Name=2; IsoId=Q5TZF3-1; Sequence=VSP_059723; Note=No experimental confirmation available.; 


uniprotID: Q9H9E1
geneSymbol: ANKRA2
pdb: 3SO8;3V2O;3V2X;3V31;4LG6;4QQI;
name: Ankyrin repeat family A protein 2 (RFXANK-like protein 2)
length: 313
go: ENSG00000164331;
sequence:

opentargets:
cytoskeleton [GO:0005856]; cytosol [GO:0005829]; membrane [GO:0016020]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; histone deacetylase binding [GO:0042826]; low-density lipoprotein particle receptor binding [GO:0050750]; protein kinase binding [GO:0019901]; ubiquitin protein ligase binding [GO:0031625]; regulation of protein complex assembly [GO:0043254]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q99PE2}. Membrane {ECO:0000250|UniProtKB:Q99PE2}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q99PE2}.


uniprotID: Q8TF21
geneSymbol: ANKRD24
name: Ankyrin repeat domain-containing protein 24
length: 1146
go: ENSG00000089847;
snps: rs2052191 rs12978469 rs10413818 rs353693
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TF21-1; Sequence=Displayed; Name=2; IsoId=Q8TF21-2; Sequence=VSP_032811; Note=No experimental confirmation available.; 


uniprotID: O43747
geneSymbol: AP1G1
reactome: R-HSA-164940;R-HSA-2132295;R-HSA-432720;R-HSA-432722;
pdb: 1IU1;
length: 822
go: ENSG00000166747;
snps: rs36037071 rs904763
name:
AP-1 complex subunit gamma-1 (Adaptor protein complex AP-1 subunit gamma-1) (Adaptor-related protein complex 1 subunit gamma-1) (Clathrin assembly protein complex 1 gamma-1 large chain) (Gamma1-adaptin) (Golgi adaptor HA1/AP1 adaptin subunit gamma-1)

sequence:

opentargets:
AP-1 adaptor complex [GO:0030121]; AP-type membrane coat adaptor complex [GO:0030119]; clathrin-coated vesicle [GO:0030136]; clathrin-coated vesicle membrane [GO:0030665]; cytoplasm [GO:0005737]; 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]; recycling endosome [GO:0055037]; trans-Golgi network membrane [GO:0032588]; GTP-dependent protein binding [GO:0030742]; kinesin binding [GO:0019894]; Rab GTPase binding [GO:0017137]; transporter activity [GO:0005215]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; endosome to melanosome transport [GO:0035646]; Golgi to lysosome transport [GO:0090160]; intracellular protein transport [GO:0006886]; melanosome organization [GO:0032438]; positive regulation of natural killer cell degranulation [GO:0043323]; positive regulation of natural killer cell mediated cytotoxicity [GO:0045954]; regulation of defense response to virus by virus [GO:0050690]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43747-1; Sequence=Displayed; Name=2; IsoId=O43747-2; Sequence=VSP_040133; 

location:
SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000269|PubMed:12773381}. Cytoplasmic vesicle, clathrin-coated vesicle membrane {ECO:0000269|PubMed:12773381}; Peripheral membrane protein {ECO:0000269|PubMed:12773381}; Cytoplasmic side {ECO:0000269|PubMed:12773381}. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex.


uniprotID: O75106
geneSymbol: AOC2
reactome: R-HSA-211945;
length: 756
go: ENSG00000131480;
snps: rs34230945 rs34435306 rs35833794 rs35508987 rs34351794
name:
Retina-specific copper amine oxidase (RAO) (EC 1.4.3.21) (Amine oxidase [copper-containing]) (Semicarbazide-sensitive amine oxidase) (SSAO)

sequence:

opentargets:
cytoplasm [GO:0005737]; plasma membrane [GO:0005886]; aliphatic-amine oxidase activity [GO:0052595]; aminoacetone:oxygen oxidoreductase(deaminating) activity [GO:0052594]; copper ion binding [GO:0005507]; electron transfer activity [GO:0009055]; phenethylamine:oxygen oxidoreductase (deaminating) activity [GO:0052596]; primary amine oxidase activity [GO:0008131]; quinone binding [GO:0048038]; tryptamine:oxygen oxidoreductase (deaminating) activity [GO:0052593]; amine metabolic process [GO:0009308]; catecholamine metabolic process [GO:0006584]; visual perception [GO:0007601]; xenobiotic metabolic process [GO:0006805]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=Long; IsoId=O75106-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=O75106-2; Sequence=VSP_006549; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000269|PubMed:19588076}; Peripheral membrane protein {ECO:0000269|PubMed:19588076}. Note=Present on the surface of the cells. {ECO:0000269|PubMed:19588076}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000269|PubMed:19588076}. Note=Either not translocated to the plasma membrane or below detection level. {ECO:0000269|PubMed:19588076}.


uniprotID: P56377
geneSymbol: AP1S2
reactome: R-HSA-164940;R-HSA-2132295;R-HSA-432720;R-HSA-432722;
length: 157
go: ENSG00000182287;
name:
AP-1 complex subunit sigma-2 (Adaptor protein complex AP-1 subunit sigma-1B) (Adaptor-related protein complex 1 subunit sigma-1B) (Clathrin assembly protein complex 1 sigma-1B small chain) (Golgi adaptor HA1/AP1 adaptin sigma-1B subunit) (Sigma 1B subunit of AP-1 clathrin) (Sigma-adaptin 1B) (Sigma1B-adaptin)

sequence:
MQFMLLFSRQGKLRLQKWYVPLSDKEKKKITRELVQTVLARKPKMCSFLEWRDLKIVYKRYASLYFCCAIEDQDNELITLEIIHRYVELLDKYFGSVCELDIIFNFEKAYFILDEFLLGGEVQETSKKNVLKAIEQADLLQEEAETPRSVLEEIGLT

opentargets:
AP-type membrane coat adaptor complex [GO:0030119]; 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]; 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]; regulation of defense response to virus by virus [GO:0050690]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P56377-1; Sequence=Displayed; Name=2; IsoId=P56377-2; Sequence=VSP_053671, VSP_053672; Note=No experimental confirmation available.; 

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


uniprotID: P20073
geneSymbol: ANXA7
name: Annexin A7 (Annexin VII) (Annexin-7) (Synexin)
length: 488
go: ENSG00000138279;
snps: rs3750575
sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; nuclear envelope [GO:0005635]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; calcium-dependent protein binding [GO:0048306]; identical protein binding [GO:0042802]; integrin binding [GO:0005178]; RNA binding [GO:0003723]; autophagy [GO:0006914]; cell proliferation [GO:0008283]; cellular calcium ion homeostasis [GO:0006874]; cellular water homeostasis [GO:0009992]; epithelial cell differentiation [GO:0030855]; hemostasis [GO:0007599]; membrane fusion [GO:0061025]; negative regulation of gene expression [GO:0010629]; regulation of cell shape [GO:0008360]; response to calcium ion [GO:0051592]; response to organic cyclic compound [GO:0014070]; response to salt stress [GO:0009651]; social behavior [GO:0035176]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Annexin VIIb; IsoId=P20073-1; Sequence=Displayed; Name=2; Synonyms=Annexin VIIa; IsoId=P20073-2; Sequence=VSP_011843; 


uniprotID: Q7Z6R9
geneSymbol: TFAP2D
reactome: R-HSA-8866904;R-HSA-8866907;
length: 452
go: ENSG00000008197;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Transcription factor AP-2-delta (AP2-delta) (Activating enhancer-binding protein 2-delta) (Transcription factor AP-2-beta-like 1)

sequence:

opentargets:
nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; inferior colliculus development [GO:0061379]; negative regulation of neuron apoptotic process [GO:0043524]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: Q8IW19
geneSymbol: APLF
pdb: 2KQB;2KQC;2KQD;2KQE;2KUO;5E50;5W7W;5W7X;5W7Y;
length: 511
go: ENSG00000169621;
snps: rs11902811 rs35002937 rs13404469
name:
Aprataxin and PNK-like factor (EC 4.2.99.18) (Apurinic-apyrimidinic endonuclease APLF) (PNK and APTX-like FHA domain-containing protein) (XRCC1-interacting protein 1)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; site of double-strand break [GO:0035861]; 3'-5' exonuclease activity [GO:0008408]; class I DNA-(apurinic or apyrimidinic site) endonuclease activity [GO:0140078]; DNA-(apurinic or apyrimidinic site) endonuclease activity [GO:0003906]; endodeoxyribonuclease activity [GO:0004520]; metal ion binding [GO:0046872]; nucleotide binding [GO:0000166]; cellular response to DNA damage stimulus [GO:0006974]; double-strand break repair [GO:0006302]; positive regulation of DNA ligation [GO:0051106]; regulation of isotype switching [GO:0045191]; single strand break repair [GO:0000012]

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm, cytosol. Note=Localizes to DNA damage sites. Accumulates at single-strand breaks and double-strand breaks via the PBZ-type zinc fingers.


uniprotID: P06727
geneSymbol: APOA4
reactome: R-HSA-8963888;R-HSA-8963889;R-HSA-8963901;R-HSA-975634;R-HSA-977225;
pdb: 3S84;
name: Apolipoprotein A-IV (Apo-AIV) (ApoA-IV) (Apolipoprotein A4)
length: 396
snps: rs5102 rs5104 rs2238008 rs1042372 rs5108 rs675 rs5110
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
blood microparticle [GO:0072562]; chylomicron [GO:0042627]; collagen-containing extracellular matrix [GO:0062023]; cytosol [GO:0005829]; early endosome [GO:0005769]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; high-density lipoprotein particle [GO:0034364]; very-low-density lipoprotein particle [GO:0034361]; antioxidant activity [GO:0016209]; cholesterol binding [GO:0015485]; cholesterol transporter activity [GO:0017127]; copper ion binding [GO:0005507]; identical protein binding [GO:0042802]; lipid binding [GO:0008289]; lipid transporter activity [GO:0005319]; phosphatidylcholine binding [GO:0031210]; phosphatidylcholine-sterol O-acyltransferase activator activity [GO:0060228]; phospholipid binding [GO:0005543]; protein homodimerization activity [GO:0042803]; cellular protein metabolic process [GO:0044267]; cholesterol biosynthetic process [GO:0006695]; cholesterol efflux [GO:0033344]; cholesterol homeostasis [GO:0042632]; cholesterol metabolic process [GO:0008203]; chylomicron assembly [GO:0034378]; chylomicron remodeling [GO:0034371]; high-density lipoprotein particle assembly [GO:0034380]; high-density lipoprotein particle remodeling [GO:0034375]; hydrogen peroxide catabolic process [GO:0042744]; innate immune response in mucosa [GO:0002227]; leukocyte cell-cell adhesion [GO:0007159]; lipid catabolic process [GO:0016042]; lipid homeostasis [GO:0055088]; lipid transport [GO:0006869]; lipoprotein metabolic process [GO:0042157]; negative regulation of plasma lipoprotein oxidation [GO:0034445]; phosphatidylcholine metabolic process [GO:0046470]; phospholipid efflux [GO:0033700]; positive regulation of cholesterol esterification [GO:0010873]; positive regulation of fatty acid biosynthetic process [GO:0045723]; positive regulation of lipid biosynthetic process [GO:0046889]; positive regulation of lipoprotein lipase activity [GO:0051006]; positive regulation of triglyceride catabolic process [GO:0010898]; protein-lipid complex assembly [GO:0065005]; regulation of cholesterol transport [GO:0032374]; regulation of intestinal cholesterol absorption [GO:0030300]; removal of superoxide radicals [GO:0019430]; response to lipid hydroperoxide [GO:0006982]; response to stilbenoid [GO:0035634]; retinoid metabolic process [GO:0001523]; reverse cholesterol transport [GO:0043691]; triglyceride catabolic process [GO:0019433]; triglyceride homeostasis [GO:0070328]; very-low-density lipoprotein particle remodeling [GO:0034372]


uniprotID: P08519
geneSymbol: LPA
reactome: R-HSA-8964041;
pdb: 1I71;1JFN;1KIV;2FEB;3KIV;4BV5;4BV7;4BVC;4BVD;4BVV;4BVW;4KIV;
name: Apolipoprotein(a) (Apo(a)) (Lp(a)) (EC 3.4.21.-)
length: 4548
drug: DB00513;
sequence:

opentargets:
extracellular region [GO:0005576]; plasma lipoprotein particle [GO:0034358]; apolipoprotein binding [GO:0034185]; endopeptidase inhibitor activity [GO:0004866]; fibronectin binding [GO:0001968]; heparin binding [GO:0008201]; serine-type endopeptidase activity [GO:0004252]; blood circulation [GO:0008015]; lipid metabolic process [GO:0006629]; lipid transport [GO:0006869]; low-density lipoprotein particle remodeling [GO:0034374]

snps:
rs41259144 rs7765803 rs7765781 rs41272110 rs41272112 rs41264308 rs1801693 rs41265936 rs3798220 rs3124784 


uniprotID: Q9BQE5
geneSymbol: APOL2
name: Apolipoprotein L2 (Apolipoprotein L-II) (ApoL-II)
length: 337
snps: rs7285167 rs132760
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; extracellular region [GO:0005576]; membrane [GO:0016020]; high-density lipoprotein particle binding [GO:0008035]; lipid binding [GO:0008289]; signaling receptor binding [GO:0005102]; acute-phase response [GO:0006953]; cholesterol metabolic process [GO:0008203]; lipid metabolic process [GO:0006629]; lipid transport [GO:0006869]; lipoprotein metabolic process [GO:0042157]; maternal process involved in female pregnancy [GO:0060135]; multicellular organism development [GO:0007275]


uniprotID: Q9BWW8
geneSymbol: APOL6
name: Apolipoprotein L6 (Apolipoprotein L-VI) (ApoL-VI)
length: 343
go: ENSG00000221963;
snps: rs5999923
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; lipid binding [GO:0008289]; lipid transport [GO:0006869]; lipoprotein metabolic process [GO:0042157]


uniprotID: O95445
geneSymbol: APOM
reactome: R-HSA-975634;
pdb: 2WEW;2WEX;2YG2;
name: Apolipoprotein M (Apo-M) (ApoM) (Protein G3a)
length: 188
go: ENSG00000204444;
drug: DB08231;
sequence:
MFHQIWAALLYFYGIILNSIYQCPEHSQLTTLGVDGKEFPEVHLGQWYFIAGAAPTKEELATFDPVDNIVFNMAAGSAPMQLHLRATIRMKDGLCVPRKWIYHLTEGSTDLRTEGRPDMKTELFSSSCPGGIMLNETGQGYQRFLLYNRSPHPPEKCVEEFKSLTSCLDSKAFLLTPRNQEACELSNN

opentargets:
discoidal high-density lipoprotein particle [GO:0034365]; extracellular region [GO:0005576]; high-density lipoprotein particle [GO:0034364]; low-density lipoprotein particle [GO:0034362]; spherical high-density lipoprotein particle [GO:0034366]; very-low-density lipoprotein particle [GO:0034361]; antioxidant activity [GO:0016209]; lipid transporter activity [GO:0005319]; phospholipid binding [GO:0005543]; cholesterol efflux [GO:0033344]; cholesterol homeostasis [GO:0042632]; high-density lipoprotein particle assembly [GO:0034380]; high-density lipoprotein particle clearance [GO:0034384]; high-density lipoprotein particle remodeling [GO:0034375]; lipoprotein metabolic process [GO:0042157]; negative regulation of plasma lipoprotein oxidation [GO:0034445]; response to glucose [GO:0009749]; retinoid metabolic process [GO:0001523]; reverse cholesterol transport [GO:0043691]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95445-1; Sequence=Displayed; Name=2; IsoId=O95445-2; Sequence=VSP_045586; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:17525477, ECO:0000269|PubMed:18279674, ECO:0000269|PubMed:18460466}. Note=Present in high density lipoprotein (HDL) and to a lesser extent in triglyceride-rich lipoproteins (TGRLP) and low density lipoproteins (LDL).


uniprotID: Q96IL0
geneSymbol: APOPT1
name: Apoptogenic protein 1, mitochondrial (APOP-1)
length: 206
go: ENSG00000256053;
snps: rs2274268 rs35960830
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250|UniProtKB:Q9CQW7}.
sequence:

opentargets:
mitochondrion [GO:0005739]; intrinsic apoptotic signaling pathway [GO:0097193]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of release of cytochrome c from mitochondria [GO:0090200]; positive regulation of smooth muscle cell apoptotic process [GO:0034393]


uniprotID: Q6F5E8
geneSymbol: CARMIL2
length: 1435
go: ENSG00000159753;
name:
Capping protein, Arp2/3 and myosin-I linker protein 2 (Capping protein regulator and myosin 1 linker 2) (F-actin-uncapping protein RLTPR) (Leucine-rich repeat-containing protein 16C) (RGD, leucine-rich repeat, tropomodulin and proline-rich-containing protein)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cell leading edge [GO:0031252]; cytoplasm [GO:0005737]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; intermediate filament cytoskeleton [GO:0045111]; lamellipodium [GO:0030027]; macropinosome [GO:0044354]; membrane [GO:0016020]; plasma membrane [GO:0005886]; ruffle [GO:0001726]; phospholipid binding [GO:0005543]; protein-containing complex binding [GO:0044877]; actin filament network formation [GO:0051639]; establishment or maintenance of cell polarity [GO:0007163]; establishment or maintenance of monopolar cell polarity [GO:0061339]; maintenance of cell polarity [GO:0030011]; negative regulation of barbed-end actin filament capping [GO:2000813]; positive regulation of cell migration [GO:0030335]; positive regulation of extracellular matrix disassembly [GO:0090091]; positive regulation of lamellipodium assembly [GO:0010592]; positive regulation of lamellipodium organization [GO:1902745]; positive regulation of ruffle assembly [GO:1900029]; wound healing, spreading of cells [GO:0044319]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=CARMIL2a {ECO:0000303|PubMed:19846667}; IsoId=Q6F5E8-1; Sequence=Displayed; Name=2; Synonyms=CARMIL2b {ECO:0000303|PubMed:19846667}; IsoId=Q6F5E8-2; Sequence=VSP_047857, VSP_047858; 

location:
SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000269|PubMed:19846667, ECO:0000269|PubMed:26466680}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:19846667, ECO:0000269|PubMed:26466680, ECO:0000269|PubMed:26578515}. Cell membrane {ECO:0000269|PubMed:26466680, ECO:0000269|PubMed:26578515}; Peripheral membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Cell projection, lamellipodium {ECO:0000269|PubMed:26578515}. Cell projection, ruffle {ECO:0000269|PubMed:26466680, ECO:0000269|PubMed:26578515}. Note=Colocalizes to dynamic vimentin filaments both in the central cytoplasm and at leading edges of migrating cells (PubMed:26578515, PubMed:26466680, PubMed:19846667). Colocalizes with F-actin, Arp2/3 complex and cortactin to leading edge lamellipodia, ruffles and macropinosomes of migrating cells (PubMed:26578515). {ECO:0000269|PubMed:19846667, ECO:0000269|PubMed:26466680, ECO:0000269|PubMed:26578515}.


uniprotID: Q16568
geneSymbol: CARTPT
pdb: 1HY9;
name: Cocaine- and amphetamine-regulated transcript protein [Cleaved into: CART(1-39); CART(42-89)]
length: 116
go: ENSG00000164326;
drug: DB00182;
snps: rs121909065 rs78242624 rs12517689
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MESSRVRLLPLLGAALLLMLPLLGTRAQEDAELQPRALDIYSAVDDASHEKELIEALQEVLKKLKSKRVPIYEKKYGQVPMCDAGEQCAVRKGARIGKLCDCPRGTSCNSFLLKCL

opentargets:
extracellular space [GO:0005615]; secretory granule [GO:0030141]; neuropeptide hormone activity [GO:0005184]; activation of MAPKK activity [GO:0000186]; adult feeding behavior [GO:0008343]; cell-cell signaling [GO:0007267]; cellular glucose homeostasis [GO:0001678]; cellular response to starvation [GO:0009267]; chemical synaptic transmission [GO:0007268]; circadian regulation of gene expression [GO:0032922]; G protein-coupled receptor signaling pathway [GO:0007186]; negative regulation of appetite [GO:0032099]; negative regulation of bone resorption [GO:0045779]; negative regulation of glucagon secretion [GO:0070093]; negative regulation of osteoclast differentiation [GO:0045671]; neuropeptide signaling pathway [GO:0007218]; positive regulation of blood pressure [GO:0045777]; positive regulation of epinephrine secretion [GO:0032812]; positive regulation of transmission of nerve impulse [GO:0051971]; regulation of insulin secretion [GO:0050796]; signal transduction [GO:0007165]; somatostatin secretion [GO:0070253]


uniprotID: Q8NBQ7
geneSymbol: AQP11
reactome: R-HSA-432047;
name: Aquaporin-11 (AQP-11)
length: 271
go: ENSG00000178301;
snps: rs2276415
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
cell surface [GO:0009986]; cytosol [GO:0005829]; dendrite [GO:0030425]; endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; water channel activity [GO:0015250]; endosomal lumen acidification [GO:0048388]; protein homooligomerization [GO:0051260]; proximal tubule development [GO:0072014]


uniprotID: Q9H0Y0
geneSymbol: ATG10
reactome: R-HSA-1632852;
name: Ubiquitin-like-conjugating enzyme ATG10 (EC 2.3.2.-) (Autophagy-related protein 10) (APG10-like)
length: 220
go: ENSG00000152348;
snps: rs3734114 rs1864183 rs1864182
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:

opentargets:
cytosol [GO:0005829]; intracellular [GO:0005622]; Atg12 transferase activity [GO:0019777]; autophagy [GO:0006914]; ER overload response [GO:0006983]; macroautophagy [GO:0016236]; positive regulation of protein modification process [GO:0031401]; protein lipidation [GO:0006497]; protein modification by small protein conjugation [GO:0032446]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H0Y0-1; Sequence=Displayed; Name=2; IsoId=Q9H0Y0-2; Sequence=VSP_013272, VSP_013273; 


uniprotID: Q06055
geneSymbol: ATP5MC2
reactome: R-HSA-163210;R-HSA-8949613;
length: 141
go: ENSG00000135390;
snps: rs13819 rs1803177
location: SUBCELLULAR LOCATION: Mitochondrion membrane; Multi-pass membrane protein.
name:
ATP synthase F(0) complex subunit C2, mitochondrial (ATP synthase lipid-binding protein) (ATP synthase membrane subunit c locus 2) (ATP synthase proteolipid P2) (ATP synthase proton-transporting mitochondrial F(0) complex subunit C2) (ATPase protein 9) (ATPase subunit c)

sequence:
MFACSKFVSTPSLVKSTSQLLSRPLSAVVLKRPEILTDESLSSLAVSCPLTSLVSSRSFQTSAISRDIDTAAKFIGAGAATVGVAGSGAGIGTVFGSLIIGYARNPSLKQQLFSYAILGFALSEAMGLFCLMVAFLILFAM

opentargets:
integral component of membrane [GO:0016021]; mitochondrial outer membrane [GO:0005741]; mitochondrial proton-transporting ATP synthase complex [GO:0005753]; mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) [GO:0000276]; proton-transporting ATP synthase complex, coupling factor F(o) [GO:0045263]; lipid binding [GO:0008289]; proton-transporting ATP synthase activity, rotational mechanism [GO:0046933]; transporter activity [GO:0005215]; ATP biosynthetic process [GO:0006754]; ATP hydrolysis coupled proton transport [GO:0015991]; ATP synthesis coupled proton transport [GO:0015986]; cristae formation [GO:0042407]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q06055-1; Sequence=Displayed; Name=2; IsoId=Q06055-2; Sequence=VSP_037348; Note=Derived from EST data.; Name=3; IsoId=Q06055-3; Sequence=VSP_037349; Note=Derived from EST data.; 


uniprotID: Q6DD88
geneSymbol: ATL3
pdb: 5VGR;
name: Atlastin-3 (EC 3.6.5.-)
length: 541
go: ENSG00000184743;
snps: rs587777108
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum tubular network [GO:0071782]; endoplasmic reticulum tubular network membrane [GO:0098826]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; identical protein binding [GO:0042802]; endoplasmic reticulum organization [GO:0007029]; Golgi organization [GO:0007030]; positive regulation of endoplasmic reticulum tubular network organization [GO:1903373]; protein homooligomerization [GO:0051260]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:18270207, ECO:0000269|PubMed:24459106, ECO:0000269|PubMed:27619977}; Multi-pass membrane protein {ECO:0000269|PubMed:18270207, ECO:0000269|PubMed:24459106}. Note=Localizes to endoplasmic reticulum tubules and accumulates in punctuate structures corresponding to 3-way junctions, which represent crossing-points at which the tubules build a polygonal network. {ECO:0000269|PubMed:23969831, ECO:0000269|PubMed:24459106, ECO:0000269|PubMed:27619977}.


uniprotID: Q9ULK2
geneSymbol: ATXN7L1
name: Ataxin-7-like protein 1 (Ataxin-7-like protein 4)
length: 861
go: ENSG00000146776;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9ULK2-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q9ULK2-2; Sequence=VSP_032351, VSP_032352; Note=No experimental confirmation available.; Name=3; IsoId=Q9ULK2-3; Sequence=VSP_041344, VSP_041345; 


uniprotID: Q8N6G6
geneSymbol: ADAMTSL1
reactome: R-HSA-5083635;R-HSA-5173214;
name: ADAMTS-like protein 1 (ADAMTSL-1) (Punctin-1)
length: 1762
go: ENSG00000178031;
snps: rs776755
sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; peptidase activity [GO:0008233]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=3; IsoId=Q8N6G6-3; Sequence=Displayed; Name=1; IsoId=Q8N6G6-1; Sequence=VSP_039326; Name=2; IsoId=Q8N6G6-2; Sequence=VSP_039323, VSP_039324, VSP_039325; Note=No experimental confirmation available.; Name=4; IsoId=Q8N6G6-4; Sequence=VSP_039327, VSP_039328; Note=No experimental confirmation available.; Name=5; IsoId=Q8N6G6-5; Sequence=VSP_039322, VSP_039329, VSP_039330, VSP_039331; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=6; IsoId=Q8N6G6-6; Sequence=VSP_039322, VSP_039329; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:11805097, ECO:0000269|PubMed:17395588, ECO:0000269|PubMed:19671700}.


uniprotID: Q9Y2D1
geneSymbol: ATF5
length: 282
go: ENSG00000169136;
drug: DB00852;
snps: rs283526
name:
Cyclic AMP-dependent transcription factor ATF-5 (cAMP-dependent transcription factor ATF-5) (Activating transcription factor 5) (Transcription factor ATFx)

sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; chromatin binding [GO:0003682]; 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]; kinase binding [GO:0019900]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; transcription corepressor activity [GO:0003714]; transcription regulatory region DNA binding [GO:0044212]; tubulin binding [GO:0015631]; cerebellar granule cell precursor proliferation [GO:0021930]; circadian rhythm [GO:0007623]; fat cell differentiation [GO:0045444]; multicellular organism growth [GO:0035264]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell cycle G2/M phase transition [GO:1902750]; negative regulation of cell proliferation [GO:0008285]; negative regulation of transcription, DNA-templated [GO:0045892]; olfactory bulb interneuron development [GO:0021891]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; post-embryonic development [GO:0009791]; regulation of centrosome cycle [GO:0046605]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription, DNA-templated [GO:0006355]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15358120}. Nucleus {ECO:0000255|PROSITE-ProRule:PRU00978, ECO:0000269|PubMed:15358120, ECO:0000269|PubMed:22528486}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:26213385}. Note=Actively transported to the centrosome and accumulated in the pericentriolar material (PCM) during G1 to M phase via a microtubule-dependent mechanism. During late telophase and cytokinesis, translocates from the centrosome to the midbody. {ECO:0000269|PubMed:26213385}.


uniprotID: P18850
geneSymbol: ATF6
reactome: R-HSA-380994;R-HSA-381033;R-HSA-381183;
length: 670
go: ENSG00000118217;
drug: DB00852;
snps: rs1058405 rs1058405 rs2070150 rs1135983 rs761357250 rs796065053
name:
Cyclic AMP-dependent transcription factor ATF-6 alpha (cAMP-dependent transcription factor ATF-6 alpha) (Activating transcription factor 6 alpha) (ATF6-alpha) [Cleaved into: Processed cyclic AMP-dependent transcription factor ATF-6 alpha]

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of endoplasmic reticulum membrane [GO:0030176]; membrane [GO:0016020]; nuclear envelope [GO:0005635]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cAMP response element binding [GO:0035497]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; identical protein binding [GO:0042802]; protein heterodimerization activity [GO:0046982]; 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 regulatory region sequence-specific DNA binding [GO:0000976]; ubiquitin protein ligase binding [GO:0031625]; ATF6-mediated unfolded protein response [GO:0036500]; endoplasmic reticulum unfolded protein response [GO:0030968]; eye development [GO:0001654]; positive regulation of apoptotic process [GO:0043065]; positive regulation of ATF6-mediated unfolded protein response [GO:1903893]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress [GO:1990440]; protein folding [GO:0006457]; regulation of transcription by RNA polymerase II [GO:0006357]; signal transduction [GO:0007165]; visual perception [GO:0007601]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type II membrane protein.; SUBCELLULAR LOCATION: Processed cyclic AMP-dependent transcription factor ATF-6 alpha: Nucleus. Note=Under ER stress the cleaved N-terminal cytoplasmic domain translocates into the nucleus. THBS4 promotes its nuclear shuttling.


uniprotID: O43861
geneSymbol: ATP9B
reactome: R-HSA-936837;
name: Probable phospholipid-transporting ATPase IIB (EC 7.6.2.1) (ATPase class II type 9B)
length: 1147
go: ENSG00000166377;
snps: rs4078115 rs34938281 rs36034863 rs585033
sequence:

opentargets:
endosome [GO:0005768]; integral component of membrane [GO:0016021]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; trans-Golgi network [GO:0005802]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; phospholipid-translocating ATPase activity [GO:0004012]; endocytosis [GO:0006897]; phospholipid translocation [GO:0045332]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43861-1; Sequence=Displayed; Name=2; IsoId=O43861-2; Sequence=VSP_035790; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:21914794}; Multi-pass membrane protein {ECO:0000269|PubMed:21914794}. Note=Efficient exit from the endoplasmic reticulum does not require TMEM30A, nor TMEM30B.


uniprotID: Q4KMG0
geneSymbol: CDON
reactome: R-HSA-375170;R-HSA-5632681;R-HSA-5635838;
pdb: 3D1M;3N1F;3N1Q;
name: Cell adhesion molecule-related/down-regulated by oncogenes
length: 1287
go: ENSG00000064309;
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; anterior/posterior pattern specification [GO:0009952]; cell adhesion [GO:0007155]; cell fate specification [GO:0001708]; cerebral cortex development [GO:0021987]; embryonic body morphogenesis [GO:0010172]; embryonic retina morphogenesis in camera-type eye [GO:0060059]; lens development in camera-type eye [GO:0002088]; myoblast fusion [GO:0007520]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of muscle cell differentiation [GO:0051149]; positive regulation of myoblast differentiation [GO:0045663]; positive regulation of neural precursor cell proliferation [GO:2000179]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of skeletal muscle tissue development [GO:0048643]; positive regulation of small GTPase mediated signal transduction [GO:0051057]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of protein heterodimerization activity [GO:0043497]; skeletal muscle satellite cell differentiation [GO:0014816]; smoothened signaling pathway [GO:0007224]

snps:
rs7122277 rs3740909 rs35665264 rs145983470 rs12274923 rs387906995 rs139323558 rs387906996 rs387906997 rs369673018 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q4KMG0-1; Sequence=Displayed; Name=2; IsoId=Q4KMG0-2; Sequence=VSP_018201; 


uniprotID: P25705
geneSymbol: ATP5F1A
reactome: R-HSA-1268020;R-HSA-163210;R-HSA-8949613;
name: ATP synthase subunit alpha, mitochondrial (ATP synthase F1 subunit alpha)
length: 553
go: ENSG00000152234;
drug: DB07384;DB07394;DB08399;DB04216;
snps: rs2228437 rs587777788 rs587776960
sequence:

opentargets:
extracellular exosome [GO:0070062]; membrane [GO:0016020]; mitochondrial inner membrane [GO:0005743]; mitochondrial matrix [GO:0005759]; mitochondrial proton-transporting ATP synthase complex [GO:0005753]; mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) [GO:0000275]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; plasma membrane [GO:0005886]; proton-transporting ATP synthase complex [GO:0045259]; ADP binding [GO:0043531]; angiostatin binding [GO:0043532]; ATP binding [GO:0005524]; MHC class I protein binding [GO:0042288]; proton-transporting ATP synthase activity, rotational mechanism [GO:0046933]; RNA binding [GO:0003723]; transmembrane transporter activity [GO:0022857]; ATP biosynthetic process [GO:0006754]; ATP metabolic process [GO:0046034]; ATP synthesis coupled proton transport [GO:0015986]; cristae formation [GO:0042407]; electron transport chain [GO:0022900]; lipid metabolic process [GO:0006629]; mitochondrial ATP synthesis coupled proton transport [GO:0042776]; negative regulation of endothelial cell proliferation [GO:0001937]; positive regulation of blood vessel endothelial cell migration [GO:0043536]; response to oxidative stress [GO:0006979]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P25705-1; Sequence=Displayed; Name=2; IsoId=P25705-2; Sequence=VSP_045129; Name=3; IsoId=P25705-3; Sequence=VSP_054688; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:30146159}. Mitochondrion inner membrane {ECO:0000250|UniProtKB:P19483}; Peripheral membrane protein {ECO:0000250|UniProtKB:P19483}; Matrix side {ECO:0000250|UniProtKB:P19483}. Cell membrane {ECO:0000269|PubMed:10077593}; Peripheral membrane protein {ECO:0000269|PubMed:10077593}; Extracellular side {ECO:0000269|PubMed:10077593}. Note=Colocalizes with HRG on the cell surface of T-cells (PubMed:19285951). {ECO:0000269|PubMed:19285951}.


uniprotID: Q9BVC5
geneSymbol: C2orf49
reactome: R-HSA-6784531;
name: Ashwin
length: 232
go: ENSG00000135974;
snps: rs28930676
sequence:

opentargets:
nucleoplasm [GO:0005654]; tRNA-splicing ligase complex [GO:0072669]; embryonic morphogenesis [GO:0048598]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BVC5-1; Sequence=Displayed; Name=2; IsoId=Q9BVC5-2; Sequence=VSP_054353, VSP_054354; Note=No experimental confirmation available.; 


uniprotID: O43681
geneSymbol: ASNA1
reactome: R-HSA-381038;
length: 348
go: ENSG00000198356;
drug: DB00171;
snps: rs8177499
location: SUBCELLULAR LOCATION: Cytoplasm. Endoplasmic reticulum. Nucleus, nucleolus.
name:
ATPase ASNA1 (EC 3.6.-.-) (Arsenical pump-driving ATPase) (Arsenite-stimulated ATPase) (Transmembrane domain recognition complex 40 kDa ATPase subunit) (hARSA-I) (hASNA-I)

sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; GET complex [GO:0043529]; nucleolus [GO:0005730]; nucleus [GO:0005634]; arsenite transmembrane transporter activity [GO:0015105]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; metal ion binding [GO:0046872]; transporter activity [GO:0005215]; IRE1-mediated unfolded protein response [GO:0036498]; posttranslational protein targeting to endoplasmic reticulum membrane [GO:0006620]; tail-anchored membrane protein insertion into ER membrane [GO:0071816]


uniprotID: P08243
geneSymbol: ASNS
reactome: R-HSA-380994;R-HSA-70614;
length: 561
go: ENSG00000070669;
drug: DB00171;DB00174;DB00128;DB00142;DB00130;
snps: rs398122975 rs1049674 rs398122973 rs398122974
name:
Asparagine synthetase [glutamine-hydrolyzing] (EC 6.3.5.4) (Cell cycle control protein TS11) (Glutamine-dependent asparagine synthetase)

sequence:

opentargets:
cytosol [GO:0005829]; asparagine synthase (glutamine-hydrolyzing) activity [GO:0004066]; ATP binding [GO:0005524]; cofactor binding [GO:0048037]; protein homodimerization activity [GO:0042803]; asparagine biosynthetic process [GO:0006529]; cellular amino acid biosynthetic process [GO:0008652]; cellular response to glucose starvation [GO:0042149]; cellular response to hormone stimulus [GO:0032870]; glutamine metabolic process [GO:0006541]; L-asparagine biosynthetic process [GO:0070981]; liver development [GO:0001889]; negative regulation of apoptotic process [GO:0043066]; PERK-mediated unfolded protein response [GO:0036499]; positive regulation of mitotic cell cycle [GO:0045931]; response to amino acid [GO:0043200]; response to follicle-stimulating hormone [GO:0032354]; response to light stimulus [GO:0009416]; response to mechanical stimulus [GO:0009612]; response to methotrexate [GO:0031427]; response to toxic substance [GO:0009636]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P08243-1; Sequence=Displayed; Name=2; IsoId=P08243-2; Sequence=VSP_045818; Note=No experimental confirmation available.; Name=3; IsoId=P08243-3; Sequence=VSP_045817; Note=No experimental confirmation available.; 


uniprotID: Q6ZTQ4
geneSymbol: CDHR3
name: Cadherin-related family member 3 (Cadherin-like protein 28)
length: 885
go: ENSG00000128536;
snps: rs35008315 rs34426483 rs6967330
sequence:

opentargets:
catenin complex [GO:0016342]; cell surface [GO:0009986]; cell-cell adherens junction [GO:0005913]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; cadherin binding [GO:0045296]; calcium ion binding [GO:0005509]; cytoskeletal protein binding [GO:0008092]; protein homodimerization activity [GO:0042803]; virus receptor activity [GO:0001618]; adherens junction organization [GO:0034332]; calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0016339]; cell-cell adhesion [GO:0098609]; cell-cell adhesion mediated by cadherin [GO:0044331]; cell-cell junction assembly [GO:0007043]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZTQ4-1; Sequence=Displayed; Name=2; IsoId=Q6ZTQ4-2; Sequence=VSP_028352, VSP_028353, VSP_028354; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:24241537}; Single-pass type I membrane protein {ECO:0000250}.


uniprotID: P00966
geneSymbol: ASS1
reactome: R-HSA-70635;
pdb: 2NZ2;
name: Argininosuccinate synthase (EC 6.3.4.5) (Citrulline--aspartate ligase)
length: 412
go: ENSG00000130707;
drug: DB00171;DB00125;DB00128;DB00155;
sequence:

opentargets:
cell body fiber [GO:0070852]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; lysosome [GO:0005764]; mitochondrial outer membrane [GO:0005741]; myelin sheath [GO:0043209]; nucleus [GO:0005634]; perikaryon [GO:0043204]; amino acid binding [GO:0016597]; argininosuccinate synthase activity [GO:0004055]; ATP binding [GO:0005524]; identical protein binding [GO:0042802]; RNA binding [GO:0003723]; toxic substance binding [GO:0015643]; acute-phase response [GO:0006953]; aging [GO:0007568]; arginine biosynthetic process [GO:0006526]; argininosuccinate metabolic process [GO:0000053]; aspartate metabolic process [GO:0006531]; cellular response to amine stimulus [GO:0071418]; cellular response to amino acid stimulus [GO:0071230]; cellular response to ammonium ion [GO:0071242]; cellular response to cAMP [GO:0071320]; cellular response to dexamethasone stimulus [GO:0071549]; cellular response to glucagon stimulus [GO:0071377]; cellular response to interferon-gamma [GO:0071346]; cellular response to laminar fluid shear stress [GO:0071499]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to oleic acid [GO:0071400]; cellular response to tumor necrosis factor [GO:0071356]; circadian rhythm [GO:0007623]; citrulline metabolic process [GO:0000052]; diaphragm development [GO:0060539]; kidney development [GO:0001822]; liver development [GO:0001889]; midgut development [GO:0007494]; negative regulation of leukocyte cell-cell adhesion [GO:1903038]; positive regulation of nitric oxide biosynthetic process [GO:0045429]; response to estradiol [GO:0032355]; response to growth hormone [GO:0060416]; response to mycotoxin [GO:0010046]; response to nutrient [GO:0007584]; response to zinc ion [GO:0010043]; urea cycle [GO:0000050]

snps:
rs121908636 rs121908643 rs556297791 rs771594651 rs121908644 rs575001023 rs769018733 rs370695114 rs138279074 rs35269064 rs770944877 rs775305020 rs936192871 rs201623252 rs201623252 rs771794639 rs1184442048 rs770585183 rs121908637 rs969835605 rs121908646 rs121908638 rs777828000 rs376371866 rs753078725 rs192838388 rs148918985 rs398123131 rs370595480 rs775163147 rs762387914 rs768215008 rs371265106 rs765338121 rs886039853 rs768394647 rs121908642 rs183276875 rs121908648 rs199751308 rs727503813 rs121908639 rs555388438 rs121908647 rs771937610 rs121908640 rs1474017319 rs121908641 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:28985504, ECO:0000305|PubMed:27287393}.


