# annotation

uniprotID: P35348
geneSymbol: ADRA1A
reactome: R-HSA-390696;R-HSA-416476;R-HSA-416482;
length: 466
go: ENSG00000120907;
snps: rs2229125 rs1048101 rs3730247 rs2229126
name:
Alpha-1A adrenergic receptor (Alpha-1A adrenoreceptor) (Alpha-1A adrenoceptor) (Alpha-1C adrenergic receptor) (Alpha-adrenergic receptor 1c)

sequence:

opentargets:
caveola [GO:0005901]; cytoplasm [GO:0005737]; dopaminergic synapse [GO:0098691]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic membrane [GO:0099055]; integral component of presynaptic membrane [GO:0099056]; nuclear membrane [GO:0031965]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; T-tubule [GO:0030315]; Z disc [GO:0030018]; adrenergic receptor activity [GO:0004935]; alpha1-adrenergic receptor activity [GO:0004937]; protein heterodimerization activity [GO:0046982]; activation of phospholipase C activity [GO:0007202]; adenylate cyclase-activating adrenergic receptor signaling pathway [GO:0071880]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; adult heart development [GO:0007512]; aging [GO:0007568]; apoptotic process [GO:0006915]; calcium ion transport into cytosol [GO:0060402]; cell growth involved in cardiac muscle cell development [GO:0061049]; cell-cell signaling [GO:0007267]; G protein-coupled receptor signaling pathway [GO:0007186]; intracellular signal transduction [GO:0035556]; micturition [GO:0060073]; negative regulation of autophagy [GO:0010507]; negative regulation of cell proliferation [GO:0008285]; negative regulation of heart rate involved in baroreceptor response to increased systemic arterial blood pressure [GO:0001985]; negative regulation of Rho protein signal transduction [GO:0035024]; norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure [GO:0001994]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; pilomotor reflex [GO:0097195]; positive regulation of action potential [GO:0045760]; positive regulation of cardiac muscle contraction [GO:0060452]; positive regulation of cardiac muscle hypertrophy [GO:0010613]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of heart rate by epinephrine-norepinephrine [GO:0001996]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of non-membrane spanning protein tyrosine kinase activity [GO:1903997]; positive regulation of protein kinase C signaling [GO:0090037]; positive regulation of smooth muscle contraction [GO:0045987]; positive regulation of synaptic transmission, GABAergic [GO:0032230]; positive regulation of systemic arterial blood pressure [GO:0003084]; positive regulation of the force of heart contraction by epinephrine-norepinephrine [GO:0001997]; positive regulation of vasoconstriction [GO:0045907]; regulation of synaptic vesicle exocytosis [GO:2000300]; response to drug [GO:0042493]; response to hormone [GO:0009725]; signal transduction [GO:0007165]; smooth muscle contraction [GO:0006939]

drug:
DB01472;DB01614;DB00346;DB00321;DB00543;DB00182;DB00964;DB01238;DB06216;DB00865;DB01295;DB01200;DB00248;DB01136;DB00477;DB09202;DB00215;DB00575;DB00363;DB00298;DB01151;DB01576;DB00449;DB00590;DB01142;DB04855;DB00450;DB06262;DB01364;DB05492;DB00751;DB00668;DB01049;DB01253;DB00696;DB01175;DB00800;DB00875;DB04946;DB00458;DB06706;DB00598;DB00408;DB00934;DB01365;DB00610;DB01403;DB00723;DB06148;DB00211;DB00370;DB06711;DB01149;DB00622;DB00699;DB00368;DB00540;DB00334;DB00935;DB01267;DB01186;DB01579;DB00925;DB00692;DB00388;DB00397;DB00457;DB00420;DB01069;DB00777;DB00852;DB01224;DB05469;DB00734;DB06144;DB06207;DB00706;DB01162;DB06764;DB01622;DB00679;DB13025;DB00797;DB00656;DB00831;DB00726;DB06694;DB00246;DB01624;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Name=1; Synonyms=Alpha 1c-1, Alpha(1A-1); IsoId=P35348-1; Sequence=Displayed; Name=2; Synonyms=Alpha 1c-2, Alpha(1A-2); IsoId=P35348-2; Sequence=VSP_011055; Name=3; Synonyms=Alpha 1c-3, Alpha(1A-3); IsoId=P35348-3; Sequence=VSP_011044, VSP_011045; Name=4; Synonyms=Alpha(1A-4); IsoId=P35348-4; Sequence=VSP_011050; Name=5; IsoId=P35348-5; Sequence=VSP_011051, VSP_011052; Name=6; IsoId=P35348-6; Sequence=VSP_011053, VSP_011054; Name=7; Synonyms=2b/3b; IsoId=P35348-7; Sequence=VSP_011047, VSP_011048; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=8; Synonyms=2c; IsoId=P35348-8; Sequence=VSP_011046; Name=9; Synonyms=3c; IsoId=P35348-9; Sequence=VSP_011049; 

location:
SUBCELLULAR LOCATION: Nucleus membrane; Multi-pass membrane protein. Cell membrane {ECO:0000269|PubMed:24567387}; Multi-pass membrane protein {ECO:0000255}. Cytoplasm {ECO:0000269|PubMed:24567387}. Membrane, caveola {ECO:0000269|PubMed:24567387}. Note=Location at the nuclear membrane facilitates heterooligomerization and regulates ERK-mediated signaling in cardiac myocytes. Colocalizes with GNAQ, PLCB1 as well as LAP2 at the nuclear membrane of cardiac myocytes.


uniprotID: O14672
geneSymbol: ADAM10
pdb: 1M1I;6BDZ;6BE6;
length: 748
go: ENSG00000137845;
drug: DB04991;
snps: rs483352912 rs61751103 rs267604273 rs145518263 rs483352916
reactome:
R-HSA-1442490;R-HSA-1474228;R-HSA-177929;R-HSA-2122948;R-HSA-2644606;R-HSA-2660826;R-HSA-2691232;R-HSA-2894862;R-HSA-2979096;R-HSA-381426;R-HSA-3928665;R-HSA-6798695;R-HSA-8957275;R-HSA-9013507;R-HSA-9013700;

name:
Disintegrin and metalloproteinase domain-containing protein 10 (ADAM 10) (EC 3.4.24.81) (CDw156) (Kuzbanian protein homolog) (Mammalian disintegrin-metalloprotease) (CD antigen CD156c)

sequence:

opentargets:
cell surface [GO:0009986]; cytoplasm [GO:0005737]; dendritic spine [GO:0043197]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; glutamatergic synapse [GO:0098978]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; Golgi-associated vesicle [GO:0005798]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; neuronal cell body [GO:0043025]; nucleus [GO:0005634]; perinuclear endoplasmic reticulum [GO:0097038]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; specific granule membrane [GO:0035579]; synaptic vesicle [GO:0008021]; tertiary granule membrane [GO:0070821]; tetraspanin-enriched microdomain [GO:0097197]; trans-Golgi network [GO:0005802]; endopeptidase activity [GO:0004175]; integrin binding [GO:0005178]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; SH3 domain binding [GO:0017124]; signaling receptor binding [GO:0005102]; amyloid-beta formation [GO:0034205]; cell-cell signaling [GO:0007267]; cellular protein metabolic process [GO:0044267]; constitutive protein ectodomain proteolysis [GO:0051089]; extracellular matrix disassembly [GO:0022617]; in utero embryonic development [GO:0001701]; integrin-mediated signaling pathway [GO:0007229]; membrane protein ectodomain proteolysis [GO:0006509]; monocyte activation [GO:0042117]; negative regulation of cell adhesion [GO:0007162]; neutrophil degranulation [GO:0043312]; Notch receptor processing, ligand-dependent [GO:0035333]; Notch signaling pathway [GO:0007219]; PMA-inducible membrane protein ectodomain proteolysis [GO:0051088]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cell growth [GO:0030307]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of T cell chemotaxis [GO:0010820]; post-translational protein modification [GO:0043687]; postsynapse organization [GO:0099173]; protein phosphorylation [GO:0006468]; protein processing [GO:0016485]; regulation of dendritic spine morphogenesis [GO:0061001]; regulation of neurotransmitter receptor localization to postsynaptic specialization membrane [GO:0098696]; response to antineoplastic agent [GO:0097327]; response to tumor necrosis factor [GO:0034612]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O14672-1; Sequence=Displayed; Name=2; IsoId=O14672-2; Sequence=VSP_056401; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26686862}; Single-pass type I membrane protein {ECO:0000305}. Golgi apparatus membrane {ECO:0000269|PubMed:12475894}; Single-pass type I membrane protein {ECO:0000305}. Note=Is localized in the plasma membrane but is predominantly expressed in the Golgi apparatus and in released membrane vesicles derived likely from the Golgi. {ECO:0000269|PubMed:12475894}.


uniprotID: Q96NN9
geneSymbol: AIFM3
pdb: 5O9V;
name: Apoptosis-inducing factor 3 (EC 1.-.-.-) (Apoptosis-inducing factor-like protein)
length: 605
go: ENSG00000183773;
snps: rs61356271
sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; 2 iron, 2 sulfur cluster binding [GO:0051537]; flavin adenine dinucleotide binding [GO:0050660]; metal ion binding [GO:0046872]; oxidoreductase activity [GO:0016491]; execution phase of apoptosis [GO:0097194]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96NN9-1; Sequence=Displayed; Name=2; IsoId=Q96NN9-2; Sequence=VSP_021300, VSP_021303; Name=3; IsoId=Q96NN9-3; Sequence=VSP_021303; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:15764604}. Note=Does not translocate to the nucleus upon induction of apoptosis.


uniprotID: O15204
geneSymbol: ADAMDEC1
length: 470
go: ENSG00000134028;
snps: rs7007084 rs3765124
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
name:
ADAM DEC1 (EC 3.4.24.-) (A disintegrin and metalloproteinase domain-like protein decysin-1) (ADAM-like protein decysin-1)

sequence:

opentargets:
extracellular region [GO:0005576]; metalloendopeptidase activity [GO:0004222]; zinc ion binding [GO:0008270]; immune response [GO:0006955]; negative regulation of cell adhesion [GO:0007162]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O15204-1; Sequence=Displayed; Name=2; IsoId=O15204-2; Sequence=VSP_043124; Note=No experimental confirmation available.; 


uniprotID: O60242
geneSymbol: ADGRB3
pdb: 4DLO;
name: Adhesion G protein-coupled receptor B3 (Brain-specific angiogenesis inhibitor 3)
length: 1522
go: ENSG00000135298;
snps: rs1932618
sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; postsynapse [GO:0098794]; synaptic cleft [GO:0043083]; G protein-coupled receptor activity [GO:0004930]; GTPase activator activity [GO:0005096]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; cell surface receptor signaling pathway [GO:0007166]; G protein-coupled receptor signaling pathway [GO:0007186]; maintenance of synapse structure [GO:0099558]; motor learning [GO:0061743]; myoblast fusion [GO:0007520]; negative regulation of angiogenesis [GO:0016525]; neuron remodeling [GO:0016322]; positive regulation of synapse assembly [GO:0051965]; regulation of dendrite morphogenesis [GO:0048814]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60242-1; Sequence=Displayed; Name=2; IsoId=O60242-2; Sequence=VSP_056939; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21262840, ECO:0000269|PubMed:22333914}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q3MIX3
geneSymbol: ADCK5
name: Uncharacterized aarF domain-containing protein kinase 5 (EC 2.7.11.-)
length: 580
go: ENSG00000173137;
opentargets: integral component of membrane [GO:0016021]; protein serine/threonine kinase activity [GO:0004674]
snps: rs6599528
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: P55263
geneSymbol: ADK
reactome: R-HSA-74217;
pdb: 1BX4;2I6A;2I6B;4O1L;
name: Adenosine kinase (AK) (EC 2.7.1.20) (Adenosine 5'-phosphotransferase)
length: 362
go: ENSG00000156110;
drug: DB07280;DB01048;DB00640;DB00131;DB00171;DB00811;
snps: rs397514454 rs397514453 rs397514452
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; adenosine kinase activity [GO:0004001]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; AMP salvage [GO:0044209]; dATP biosynthetic process [GO:0006175]; purine ribonucleoside salvage [GO:0006166]; purine-containing compound salvage [GO:0043101]; ribonucleoside monophosphate biosynthetic process [GO:0009156]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Long; IsoId=P55263-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P55263-2; Sequence=VSP_046713; Name=3; IsoId=P55263-3; Sequence=VSP_043526; Name=4; IsoId=P55263-4; Sequence=VSP_004668; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Nucleus {ECO:0000269|PubMed:19635462}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000269|PubMed:19635462}.


uniprotID: Q495B1
geneSymbol: ANKDD1A
name: Ankyrin repeat and death domain-containing protein 1A
length: 522
go: ENSG00000166839;
opentargets: signal transduction [GO:0007165]
snps: rs34988193
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=5; IsoId=Q495B1-5; Sequence=Displayed; Name=2; IsoId=Q495B1-2; Sequence=VSP_038678; Name=3; IsoId=Q495B1-6; Sequence=VSP_038676, VSP_038677; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=1; IsoId=Q495B1-1; Sequence=VSP_038675; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: A6NHY2
geneSymbol: ANKDD1B
name: Ankyrin repeat and death domain-containing protein 1B
length: 528
go: ENSG00000189045;
opentargets: signal transduction [GO:0007165]
sequence:


uniprotID: Q92685
geneSymbol: ALG3
reactome: R-HSA-446193;R-HSA-4720475;
length: 438
go: ENSG00000214160;
snps: rs2233463 rs28940588 rs119103236
name:
Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase (EC 2.4.1.258) (Asparagine-linked glycosylation protein 3 homolog) (Dol-P-Man-dependent alpha(1-3)-mannosyltransferase) (Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase) (Dolichyl-phosphate-mannose--glycolipid alpha-mannosyltransferase) (Not56-like protein)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of endoplasmic reticulum membrane [GO:0030176]; alpha-1,3-mannosyltransferase activity [GO:0000033]; dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity [GO:0052925]; dolichol-linked oligosaccharide biosynthetic process [GO:0006488]; protein glycosylation [GO:0006486]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92685-1; Sequence=Displayed; Name=2; IsoId=Q92685-2; Sequence=VSP_042738; Note=No experimental confirmation available.; 


uniprotID: Q96Q83
geneSymbol: ALKBH3
reactome: R-HSA-112126;
pdb: 2IUW;
length: 286
go: ENSG00000166199;
drug: DB00126;
snps: rs2271815 rs1130290
name:
Alpha-ketoglutarate-dependent dioxygenase alkB homolog 3 (EC 1.14.11.54) (Alkylated DNA repair protein alkB homolog 3) (hABH3) (DEPC-1) (Prostate cancer antigen 1)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cytosine C-5 DNA demethylase activity [GO:0051747]; DNA-N1-methyladenine dioxygenase activity [GO:0043734]; ferrous iron binding [GO:0008198]; L-ascorbic acid binding [GO:0031418]; RNA N1-methyladenosine dioxygenase activity [GO:1990930]; cell proliferation [GO:0008283]; DNA dealkylation involved in DNA repair [GO:0006307]; DNA repair [GO:0006281]; oxidative single-stranded DNA demethylation [GO:0035552]; oxidative single-stranded RNA demethylation [GO:0035553]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96Q83-1; Sequence=Displayed; Name=2; IsoId=Q96Q83-2; Sequence=VSP_019125, VSP_019126, VSP_019127; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12486230, ECO:0000269|PubMed:12594517, ECO:0000269|PubMed:17979886, ECO:0000269|PubMed:29144457}. Cytoplasm {ECO:0000269|PubMed:12486230, ECO:0000269|PubMed:12594517, ECO:0000269|PubMed:17979886}. Note=Colocalizes with ASCC2 and ASCC3 in nuclear foci when cells have been exposed to alkylating agents that cause DNA damage (PubMed:29144457). Predominantly localizes to the nucleus. {ECO:0000269|PubMed:12486230, ECO:0000269|PubMed:12594517, ECO:0000269|PubMed:17979886, ECO:0000269|PubMed:29144457}.


uniprotID: Q9UHB7
geneSymbol: AFF4
reactome: R-HSA-112382;R-HSA-674695;R-HSA-75955;
pdb: 4IMY;4OGR;4OR5;5JW9;5L1Z;
length: 1163
go: ENSG00000072364;
snps: rs34527550 rs786205233 rs786205679 rs786205680
name:
AF4/FMR2 family member 4 (ALL1-fused gene from chromosome 5q31 protein) (Protein AF-5q31) (Major CDK9 elongation factor-associated protein)

sequence:

opentargets:
ELL-EAF complex [GO:0032783]; fibrillar center [GO:0001650]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription elongation factor complex [GO:0008023]; transcriptionally active chromatin [GO:0035327]; DNA-binding transcription factor activity [GO:0003700]; double-stranded DNA binding [GO:0003690]; spermatid development [GO:0007286]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase II promoter [GO:0006368]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UHB7-1; Sequence=Displayed; Name=2; IsoId=Q9UHB7-2; Sequence=VSP_019220, VSP_019221; Name=3; IsoId=Q9UHB7-3; Sequence=VSP_019218, VSP_019219; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12065898}. Note=Associates to transcriptionally active chromatin but not at snRNA genes. {ECO:0000250}.


uniprotID: Q6QNK2
geneSymbol: ADGRD1
length: 874
go: ENSG00000111452;
name:
Adhesion G-protein coupled receptor D1 (G-protein coupled receptor 133) (G-protein coupled receptor PGR25)

sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; cell surface receptor signaling pathway [GO:0007166]; G protein-coupled receptor signaling pathway [GO:0007186]

snps:
rs149181066 rs146611221 rs376178471 rs267603378 rs143395855 rs199848650 rs201546462 rs148928637 rs199526762 rs374985420 rs142759046 rs146945782 rs144030317 rs141606054 rs148148477 rs61732860 rs267603379 rs146310036 rs375084180 rs201045213 rs139478688 rs377562590 rs370807516 rs368468703 rs201057341 rs201053759 rs146563785 rs75096240 rs137909892 rs149012578 rs147773154 rs147105264 rs146929634 rs148017957 rs201661954 rs200641036 rs370854685 rs146050435 rs142314859 rs200232576 rs374606811 rs201985264 rs150882180 rs371536090 rs145663007 rs376489706 rs147757048 rs142628291 rs370959644 rs374575404 rs375271891 rs200173874 rs200060202 rs149065791 rs143062748 rs140426880 rs78638447 rs138163855 rs372643228 rs149266247 rs369012277 rs200576124 rs150620459 rs11833801 rs11061318 rs370443698 rs201849687 rs200971352 rs147294464 rs145630930 rs371989819 rs375179921 rs192515185 rs139017446 rs201161291 rs189007948 rs201524753 rs200052797 rs117457351 rs199778477 rs145482553 rs377401276 rs141128784 rs143163307 rs141439159 rs143902981 rs372207677 rs147763331 rs369201469 rs149434203 rs144814859 rs61746588 rs375488636 rs369853823 rs368828722 rs371135988 rs146661482 rs144023497 rs367789023 rs78058857 rs61740366 rs377434309 rs143670024 rs148442158 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6QNK2-1; Sequence=Displayed; Name=2; IsoId=Q6QNK2-2; Sequence=VSP_012788, VSP_012789; Note=No experimental confirmation available.; Name=3; IsoId=Q6QNK2-3; Sequence=VSP_012787, VSP_012790; Note=No experimental confirmation available.; Name=4; IsoId=Q6QNK2-4; Sequence=VSP_053678; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22025619, ECO:0000269|PubMed:25533341}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q9UKA4
geneSymbol: AKAP11
length: 1901
go: ENSG00000023516;
snps: rs2236364 rs17063163 rs17063167
name:
A-kinase anchor protein 11 (AKAP-11) (A-kinase anchor protein 220 kDa) (AKAP 220) (hAKAP220) (Protein kinase A-anchoring protein 11) (PRKA11)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; microtubule organizing center [GO:0005815]; nucleolus [GO:0005730]; peroxisome [GO:0005777]; plasma membrane [GO:0005886]; protein kinase A binding [GO:0051018]; protein phosphatase 1 binding [GO:0008157]; intracellular signal transduction [GO:0035556]; regulation of protein kinase A signaling [GO:0010738]

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Cytoplasmic in premeiotic pachytene spermatocytes and in the centrosome of developing postmeiotic germ cells, while a midpiece/centrosome localization was found in elongating spermatocytes and mature sperm.


uniprotID: Q9H6U8
geneSymbol: ALG9
reactome: R-HSA-446193;R-HSA-4720454;
length: 611
go: ENSG00000086848;
snps: rs36111204 rs17113312 rs121908023 rs10502151 rs185149177 rs121908022 rs12575909
name:
Alpha-1,2-mannosyltransferase ALG9 (EC 2.4.1.259) (EC 2.4.1.261) (Asparagine-linked glycosylation protein 9 homolog) (Disrupted in bipolar disorder protein 1) (Dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase) (Dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; alpha-1,2-mannosyltransferase activity [GO:0000026]; dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity [GO:0052926]; dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity [GO:0052918]; mannosyltransferase activity [GO:0000030]; dolichol-linked oligosaccharide biosynthetic process [GO:0006488]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9H6U8-1; Sequence=Displayed; Name=2; IsoId=Q9H6U8-2; Sequence=VSP_015434; Name=3; IsoId=Q9H6U8-3; Sequence=VSP_015435; Name=4; IsoId=Q9H6U8-4; Sequence=VSP_015434, VSP_015435; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000305|PubMed:15148656}; Multi-pass membrane protein {ECO:0000305}.


uniprotID: Q9UPQ3
geneSymbol: AGAP1
length: 857
go: ENSG00000157985;
snps: rs17855721 rs2034648 rs762355360 rs15718 rs368301945
name:
Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 (AGAP-1) (Centaurin-gamma-2) (Cnt-g2) (GTP-binding and GTPase-activating protein 1) (GGAP1)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; GTP binding [GO:0005525]; GTPase activator activity [GO:0005096]; GTPase activity [GO:0003924]; metal ion binding [GO:0046872]; phospholipid binding [GO:0005543]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UPQ3-1; Sequence=Displayed; Name=2; IsoId=Q9UPQ3-2; Sequence=VSP_011183; Name=3; IsoId=Q9UPQ3-3; Sequence=VSP_011181, VSP_011182; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12388557, ECO:0000269|PubMed:12640130}. Note=Associates with the endocytic compartment.


uniprotID: Q9UKB5
geneSymbol: AJAP1
name: Adherens junction-associated protein 1 (Membrane protein shrew-1)
length: 411
go: ENSG00000196581;
snps: rs242056
sequence:

opentargets:
apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; cell surface [GO:0009986]; cell-cell adherens junction [GO:0005913]; cell-cell contact zone [GO:0044291]; cytoplasmic side of plasma membrane [GO:0009898]; spanning component of plasma membrane [GO:0044214]; beta-catenin binding [GO:0008013]; protein-containing complex binding [GO:0044877]; cell adhesion [GO:0007155]; negative regulation of cell-matrix adhesion [GO:0001953]; negative regulation of wound healing [GO:0061045]; regulation of polarized epithelial cell differentiation [GO:0030860]

location:
SUBCELLULAR LOCATION: Basolateral cell membrane; Single-pass type III membrane protein. Apical cell membrane; Single-pass type III membrane protein. Cell junction, adherens junction. Note=Mainly basolateral. Localization is mediated by AP1M2.


uniprotID: Q719I0
geneSymbol: AHSA2P
length: 299
opentargets: ATPase activator activity [GO:0001671]; chaperone binding [GO:0051087]
name:
Putative activator of 90 kDa heat shock protein ATPase homolog 2 (Activator of HSP90 ATPase homolog 2 pseudogene)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q719I0-1; Sequence=Displayed; Name=2; IsoId=Q719I0-2; Sequence=VSP_030570, VSP_030571; Name=3; IsoId=Q719I0-3; Sequence=VSP_030569; 


uniprotID: Q86SQ3
geneSymbol: ADGRE4P
length: 457
name:
Putative adhesion G protein-coupled receptor E4P (EGF-like module receptor 4) (EGF-like module-containing mucin-like hormone receptor-like 4) (G-protein coupled receptor 127) (G-protein coupled receptor PGR16)

sequence:

opentargets:
extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; calcium ion binding [GO:0005509]; G protein-coupled receptor activity [GO:0004930]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; cell surface receptor signaling pathway [GO:0007166]; G protein-coupled receptor signaling pathway [GO:0007186]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86SQ3-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q86SQ3-2; Sequence=VSP_057755, VSP_057756, VSP_057757; Note=Due to a frameshift mutation in exon 8 would result in a truncated soluble form.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000250|UniProtKB:Q91ZE5}; Multi-pass membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000305}.


uniprotID: Q02952
geneSymbol: AKAP12
length: 1782
go: ENSG00000131016;
name:
A-kinase anchor protein 12 (AKAP-12) (A-kinase anchor protein 250 kDa) (AKAP 250) (Gravin) (Myasthenia gravis autoantigen)

sequence:

opentargets:
cell cortex [GO:0005938]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; plasma membrane [GO:0005886]; Schaffer collateral - CA1 synapse [GO:0098685]; adenylate cyclase binding [GO:0008179]; protein kinase A binding [GO:0051018]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; G protein-coupled receptor signaling pathway [GO:0007186]; modulation of chemical synaptic transmission [GO:0050804]; positive regulation of protein kinase A signaling [GO:0010739]; protein targeting [GO:0006605]; regulation of protein kinase A signaling [GO:0010738]; regulation of protein kinase C signaling [GO:0090036]

snps:
rs10872670 rs3734799 rs552053449 rs13212161 rs1042069 rs3734797 rs9478198 rs12201388 rs3823310 rs3734795 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Alpha; IsoId=Q02952-1; Sequence=Displayed; Name=2; Synonyms=Beta; IsoId=Q02952-2; Sequence=VSP_004110, VSP_004111; Name=3; Synonyms=Gamma; IsoId=Q02952-3; Sequence=VSP_028133, VSP_028134; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cell cortex {ECO:0000305}. Cytoplasm, cytoskeleton {ECO:0000305}. Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}. Note=May be part of the cortical cytoskeleton.


uniprotID: P55008
geneSymbol: AIF1
pdb: 2D58;2G2B;
name: Allograft inflammatory factor 1 (AIF-1) (Ionized calcium-binding adapter molecule 1) (Protein G1)
length: 147
go: ENSG00000204472;
snps: rs2736182
sequence:
MSQTRDLQGGKAFGLLKAQQEERLDEINKQFLDDPKYSSDEDLPSKLEGFKEKYMEFDLNGNGDIDIMSLKRMLEKLGVPKTHLELKKLIGEVSSGSGETFSYPDFLRMMLGKRSAILKMILMYEEKAREKEKPTGPPAKKAISELP

opentargets:
actin filament [GO:0005884]; cell projection [GO:0042995]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; lamellipodium [GO:0030027]; nucleus [GO:0005634]; perikaryon [GO:0043204]; perinuclear region of cytoplasm [GO:0048471]; phagocytic cup [GO:0001891]; ruffle membrane [GO:0032587]; actin filament binding [GO:0051015]; calcium ion binding [GO:0005509]; actin filament bundle assembly [GO:0051017]; actin filament polymerization [GO:0030041]; cellular response to extracellular stimulus [GO:0031668]; cellular response to hormone stimulus [GO:0032870]; cellular response to hydroperoxide [GO:0071447]; cellular response to interferon-gamma [GO:0071346]; cellular response to morphine [GO:0071315]; cerebellum development [GO:0021549]; inflammatory response [GO:0006954]; microglial cell activation [GO:0001774]; negative regulation of apoptotic process [GO:0043066]; negative regulation of gene expression [GO:0010629]; negative regulation of smooth muscle cell chemotaxis [GO:0071672]; negative regulation of smooth muscle cell proliferation [GO:0048662]; phagocytosis, engulfment [GO:0006911]; positive regulation of G1/S transition of mitotic cell cycle [GO:1900087]; positive regulation of monocyte chemotaxis [GO:0090026]; positive regulation of muscle hyperplasia [GO:0014739]; positive regulation of nitric oxide biosynthetic process [GO:0045429]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of smooth muscle cell chemotaxis [GO:0071673]; positive regulation of smooth muscle cell proliferation [GO:0048661]; positive regulation of T cell migration [GO:2000406]; positive regulation of T cell proliferation [GO:0042102]; Rac protein signal transduction [GO:0016601]; response to axon injury [GO:0048678]; response to electrical stimulus [GO:0051602]; response to glucocorticoid [GO:0051384]; ruffle assembly [GO:0097178]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P55008-1; Sequence=Displayed; Name=2; Synonyms=G1; IsoId=P55008-2; Sequence=VSP_043838; Name=3; IsoId=P55008-3; Sequence=VSP_043837, VSP_043839; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:O70200}. Cell projection, ruffle membrane {ECO:0000250|UniProtKB:O70200}; Peripheral membrane protein {ECO:0000250|UniProtKB:O70200}; Cytoplasmic side {ECO:0000250|UniProtKB:O70200}. Cell projection, phagocytic cup {ECO:0000250|UniProtKB:O70200}. Note=Associated with the actin cytoskeleton at membrane ruffles and at sites of phagocytosis. {ECO:0000250|UniProtKB:O70200}.


uniprotID: O94910
geneSymbol: ADGRL1
length: 1474
go: ENSG00000072071;
snps: rs34759320
name:
Adhesion G protein-coupled receptor L1 (Calcium-independent alpha-latrotoxin receptor 1) (CIRL-1) (Latrophilin-1) (Lectomedin-2)

sequence:

opentargets:
axon [GO:0030424]; cell junction [GO:0030054]; growth cone [GO:0030426]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; presynaptic membrane [GO:0042734]; synapse [GO:0045202]; carbohydrate binding [GO:0030246]; cell adhesion molecule binding [GO:0050839]; G protein-coupled receptor activity [GO:0004930]; latrotoxin receptor activity [GO:0016524]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; calcium-mediated signaling using intracellular calcium source [GO:0035584]; cell surface receptor signaling pathway [GO:0007166]; G protein-coupled receptor signaling pathway [GO:0007186]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; positive regulation of synapse assembly [GO:0051965]; positive regulation of synapse maturation [GO:0090129]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O94910-1; Sequence=Displayed; Name=2; IsoId=O94910-2; Sequence=VSP_010099; 

location:
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell projection, axon {ECO:0000250|UniProtKB:O88917}. Cell projection, growth cone {ECO:0000250|UniProtKB:O88917}. Cell junction, synapse {ECO:0000250|UniProtKB:O88917}. Cell junction, synapse, presynaptic cell membrane {ECO:0000250|UniProtKB:O88917}. Cell junction, synapse, synaptosome {ECO:0000250|UniProtKB:O88917}. Note=Colocalizes with TENM2 on the cell surface, across intercellular junctions and on nerve terminals near synaptic clefts. {ECO:0000250|UniProtKB:O88917}.


uniprotID: Q96SZ5
geneSymbol: ADO
reactome: R-HSA-1614558;
name: 2-aminoethanethiol dioxygenase (EC 1.13.11.19) (Cysteamine dioxygenase)
length: 270
go: ENSG00000181915;
snps: rs2236295 rs10995311 rs569705
sequence:

opentargets:
cytosol [GO:0005829]; cysteamine dioxygenase activity [GO:0047800]; metal ion binding [GO:0046872]; sulfur amino acid catabolic process [GO:0000098]


uniprotID: Q08828
geneSymbol: ADCY1
length: 1119
go: ENSG00000164742;
drug: DB00131;DB00171;
snps: rs12721473 rs45444695 rs2293106
reactome:
R-HSA-163359;R-HSA-163615;R-HSA-164378;R-HSA-170660;R-HSA-170670;R-HSA-418555;R-HSA-418594;R-HSA-418597;R-HSA-432040;R-HSA-442720;R-HSA-5610787;

name:
Adenylate cyclase type 1 (EC 4.6.1.1) (ATP pyrophosphate-lyase 1) (Adenylate cyclase type I) (Adenylyl cyclase 1) (Ca(2+)/calmodulin-activated adenylyl cyclase)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; glutamatergic synapse [GO:0098978]; hippocampal mossy fiber to CA3 synapse [GO:0098686]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic density membrane [GO:0099061]; membrane raft [GO:0045121]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; Schaffer collateral - CA1 synapse [GO:0098685]; adenylate cyclase activity [GO:0004016]; ATP binding [GO:0005524]; calcium- and calmodulin-responsive adenylate cyclase activity [GO:0008294]; calmodulin binding [GO:0005516]; metal ion binding [GO:0046872]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; axonogenesis [GO:0007409]; brain development [GO:0007420]; cAMP biosynthetic process [GO:0006171]; cAMP-mediated signaling [GO:0019933]; cellular response to calcium ion [GO:0071277]; cellular response to forskolin [GO:1904322]; cellular response to glucagon stimulus [GO:0071377]; circadian rhythm [GO:0007623]; G protein-coupled receptor signaling pathway [GO:0007186]; long-term memory [GO:0007616]; neuroinflammatory response [GO:0150076]; positive regulation of CREB transcription factor activity [GO:0032793]; positive regulation of long-term synaptic potentiation [GO:1900273]; regulation of circadian rhythm [GO:0042752]; regulation of synaptic vesicle exocytosis [GO:2000300]; renal water homeostasis [GO:0003091]; response to lithium ion [GO:0010226]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:P19754}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P19754}. Cell membrane {ECO:0000269|PubMed:11549699}; Multi-pass membrane protein {ECO:0000305}. Cytoplasm {ECO:0000250|UniProtKB:O88444}. Membrane raft {ECO:0000250|UniProtKB:P19754}. Note=Expressed in the cytoplasm of supporting cells and hair cells of the cochlea vestibule, as well as to the cochlear hair cell nuclei and stereocilia. {ECO:0000250|UniProtKB:O88444}.


uniprotID: Q3SY69
geneSymbol: ALDH1L2
reactome: R-HSA-196757;
length: 923
go: ENSG00000136010;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:20498374}.
name:
Mitochondrial 10-formyltetrahydrofolate dehydrogenase (Mitochondrial 10-FTHFDH) (mtFDH) (EC 1.5.1.6) (Aldehyde dehydrogenase family 1 member L2)

sequence:

opentargets:
extracellular exosome [GO:0070062]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; aldehyde dehydrogenase (NAD) activity [GO:0004029]; formyltetrahydrofolate dehydrogenase activity [GO:0016155]; hydroxymethyl-, formyl- and related transferase activity [GO:0016742]; 10-formyltetrahydrofolate catabolic process [GO:0009258]; biosynthetic process [GO:0009058]; folic acid metabolic process [GO:0046655]; one-carbon metabolic process [GO:0006730]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q3SY69-1; Sequence=Displayed; Name=2; IsoId=Q3SY69-2; Sequence=VSP_030752, VSP_030753; Note=No experimental confirmation available.; Name=3; IsoId=Q3SY69-3; Sequence=VSP_030754, VSP_030755; Note=No experimental confirmation available.; 


uniprotID: Q9Y6Z5
geneSymbol: AFDN-DT
name: Putative uncharacterized protein AFDN-DT (AFDN divergent transcript) (Protein HGC6.4)
length: 254
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y6Z5-1; Sequence=Displayed; Name=2; IsoId=Q9Y6Z5-2; Sequence=VSP_033350; Note=No experimental confirmation available.; 


uniprotID: Q96BJ3
geneSymbol: AIDA
length: 306
go: ENSG00000186063;
name:
Axin interactor, dorsalization-associated protein (Axin interaction partner and dorsalization antagonist)

sequence:

opentargets:
cytoplasm [GO:0005737]; protein domain specific binding [GO:0019904]; dorsal/ventral pattern formation [GO:0009953]; negative regulation of JNK cascade [GO:0046329]; negative regulation of JUN kinase activity [GO:0043508]; regulation of protein homodimerization activity [GO:0043496]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96BJ3-1; Sequence=Displayed; Name=2; IsoId=Q96BJ3-2; Sequence=VSP_028322; Note=No experimental confirmation available.; Name=3; IsoId=Q96BJ3-3; Sequence=VSP_034661; Note=No experimental confirmation available.; 


uniprotID: Q96HD9
geneSymbol: ACY3
reactome: R-HSA-5423646;
length: 319
go: ENSG00000132744;
drug: DB00128;
snps: rs948445 rs2290959
name:
N-acyl-aromatic-L-amino acid amidohydrolase (carboxylate-forming) (EC 3.5.1.114) (Acylase III) (Aminoacylase-3) (ACY-3) (Aspartoacylase-2) (Hepatitis C virus core-binding protein 1) (HCBP1) (HCV core-binding protein 1)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; aminoacylase activity [GO:0004046]; hydrolase activity, acting on ester bonds [GO:0016788]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; viral process [GO:0016032]; xenobiotic metabolic process [GO:0006805]

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:19486448}; Peripheral membrane protein {ECO:0000269|PubMed:19486448}. Cytoplasm {ECO:0000269|PubMed:19486448}. Note=Predominantly localized in the apical membrane of cells in the S1 segment. In the proximal straight tubules (S2 and S3 segments) is expressed diffusely throughout the cytoplasm.


uniprotID: Q04828
geneSymbol: AKR1C1
reactome: R-HSA-193368;R-HSA-193775;R-HSA-193807;R-HSA-975634;
pdb: 1MRQ;3C3U;3GUG;3NTY;4YVP;
length: 323
go: ENSG00000187134;
drug: DB03461;DB00945;DB07931;DB00157;DB00936;
snps: rs139588200 rs11474
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Aldo-keto reductase family 1 member C1 (EC 1.1.1.-) (20-alpha-hydroxysteroid dehydrogenase) (20-alpha-HSD) (EC 1.1.1.149) (Chlordecone reductase homolog HAKRC) (Dihydrodiol dehydrogenase 1/2) (DD1/DD2) (High-affinity hepatic bile acid-binding protein) (HBAB) (Indanol dehydrogenase) (EC 1.1.1.112) (Trans-1,2-dihydrobenzene-1,2-diol dehydrogenase) (EC 1.3.1.20)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity [GO:0047006]; alcohol dehydrogenase (NADP+) activity [GO:0008106]; alditol:NADP+ 1-oxidoreductase activity [GO:0004032]; aldo-keto reductase (NADP) activity [GO:0004033]; androsterone dehydrogenase (B-specific) activity [GO:0047042]; bile acid binding [GO:0032052]; carboxylic acid binding [GO:0031406]; indanol dehydrogenase activity [GO:0047718]; ketosteroid monooxygenase activity [GO:0047086]; oxidoreductase activity [GO:0016491]; oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor [GO:0016655]; phenanthrene 9,10-monooxygenase activity [GO:0018636]; steroid dehydrogenase activity [GO:0016229]; trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity [GO:0047115]; bile acid and bile salt transport [GO:0015721]; bile acid metabolic process [GO:0008206]; cellular response to jasmonic acid stimulus [GO:0071395]; cholesterol homeostasis [GO:0042632]; daunorubicin metabolic process [GO:0044597]; digestion [GO:0007586]; doxorubicin metabolic process [GO:0044598]; epithelial cell differentiation [GO:0030855]; intestinal cholesterol absorption [GO:0030299]; oxidation-reduction process [GO:0055114]; progesterone metabolic process [GO:0042448]; protein homooligomerization [GO:0051260]; response to organophosphorus [GO:0046683]; retinal metabolic process [GO:0042574]; retinoid metabolic process [GO:0001523]; steroid metabolic process [GO:0008202]; xenobiotic metabolic process [GO:0006805]


uniprotID: Q9BUB4
geneSymbol: ADAT1
reactome: R-HSA-6782315;
name: tRNA-specific adenosine deaminase 1 (hADAT1) (EC 3.5.4.34) (tRNA-specific adenosine-37 deaminase)
length: 502
go: ENSG00000065457;
snps: rs3743598 rs3743599 rs56029288 rs3743600
sequence:

opentargets:
metal ion binding [GO:0046872]; RNA binding [GO:0003723]; tRNA-specific adenosine deaminase activity [GO:0008251]; tRNA processing [GO:0008033]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BUB4-1; Sequence=Displayed; Name=2; IsoId=Q9BUB4-2; Sequence=VSP_025579; Note=No experimental confirmation available.; 


uniprotID: Q96EY9
geneSymbol: ADAT3
reactome: R-HSA-6782315;
length: 351
name:
Probable inactive tRNA-specific adenosine deaminase-like protein 3 (tRNA-specific adenosine-34 deaminase subunit ADAT3)

sequence:

opentargets:
nucleoplasm [GO:0005654]; catalytic activity [GO:0003824]; metal ion binding [GO:0046872]; tRNA processing [GO:0008033]


uniprotID: Q60I27
geneSymbol: ALS2CL
reactome: R-HSA-8876198;
name: ALS2 C-terminal-like protein
length: 953
go: ENSG00000178038;
snps: rs59661801 rs7642448
sequence:

opentargets:
cytosol [GO:0005829]; GTPase activator activity [GO:0005096]; identical protein binding [GO:0042802]; Rab guanyl-nucleotide exchange factor activity [GO:0017112]; endosome organization [GO:0007032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q60I27-1; Sequence=Displayed; Name=2; IsoId=Q60I27-2; Sequence=VSP_030170; Note=No experimental confirmation available.; Name=3; IsoId=Q60I27-3; Sequence=VSP_030169; Note=No experimental confirmation available.; Name=4; IsoId=Q60I27-4; Sequence=VSP_030168, VSP_030171; Note=No experimental confirmation available.; Name=5; IsoId=Q60I27-5; Sequence=VSP_030168; Name=6; IsoId=Q60I27-6; Sequence=VSP_043859; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15388334, ECO:0000269|PubMed:17239822}. Note=Distributed onto the vesicular compartments in the cytoplasm with strong punctated staining. Colocalizes with RAB5A onto the vesicular/membranous compartments in the cytoplasm, particularly to the leading edges of the cells.


uniprotID: Q96B36
geneSymbol: AKT1S1
reactome: R-HSA-165159;R-HSA-166208;R-HSA-198323;R-HSA-3371571;R-HSA-5674400;
pdb: 5WBL;5WBU;5WBY;
name: Proline-rich AKT1 substrate 1 (40 kDa proline-rich AKT substrate)
length: 256
go: ENSG00000204673;
snps: rs17850191
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; TORC1 complex [GO:0031931]; negative regulation of cell size [GO:0045792]; negative regulation of protein kinase activity [GO:0006469]; negative regulation of TOR signaling [GO:0032007]; neurotrophin TRK receptor signaling pathway [GO:0048011]; regulation of apoptotic process [GO:0042981]; regulation of cellular response to heat [GO:1900034]; regulation of neuron apoptotic process [GO:0043523]; TORC1 signaling [GO:0038202]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1 {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}; IsoId=Q96B36-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:15489334}; IsoId=Q96B36-2; Sequence=VSP_052182; Note=No experimental confirmation available. {ECO:0000305}; Name=3; IsoId=Q96B36-3; Sequence=VSP_047536; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250}. Note=Found in the cytosolic fraction of the brain. {ECO:0000250}.


uniprotID: Q9NZD4
geneSymbol: AHSP
pdb: 1W09;1W0A;1W0B;1XZY;1Y01;1Z8U;3IA3;3OVU;
length: 102
go: ENSG00000169877;
snps: rs36018996
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12066189}.
name:
Alpha-hemoglobin-stabilizing protein (Erythroid differentiation-related factor) (Erythroid-associated factor)

sequence:
MALLKANKDLISAGLKEFSVLLNQQVFNDPLVSEEDMVTVVEDWMNFYINYYRQQVTGEPQERDKALQELRQELNTLANPFLAKYRDFLKSHELPSHPPPSS

opentargets:
cytoplasm [GO:0005737]; hemoglobin complex [GO:0005833]; hemoglobin binding [GO:0030492]; unfolded protein binding [GO:0051082]; erythrocyte differentiation [GO:0030218]; hemoglobin metabolic process [GO:0020027]; hemopoiesis [GO:0030097]; protein folding [GO:0006457]; protein stabilization [GO:0050821]


uniprotID: Q5T1N1
geneSymbol: AKNAD1
name: Protein AKNAD1
length: 836
go: ENSG00000162641;
snps: rs1277207 rs17621411 rs17852793 rs9440631 rs11580913 rs12060255 rs7551421 rs7522157
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q5T1N1-1; Sequence=Displayed; Name=2; IsoId=Q5T1N1-2; Sequence=VSP_034460; Note=No experimental confirmation available.; Name=3; IsoId=Q5T1N1-3; Sequence=VSP_034461, VSP_034462; Note=No experimental confirmation available.; Name=4; IsoId=Q5T1N1-4; Sequence=VSP_034463, VSP_034464; Note=No experimental confirmation available.; 


uniprotID: O94788
geneSymbol: ALDH1A2
reactome: R-HSA-5365859;
pdb: 4X2Q;6ALJ;6B5G;6B5H;6B5I;
length: 518
go: ENSG00000128918;
drug: DB00157;DB00755;DB00162;
snps: rs34266719 rs35365164 rs4646626 rs34744827
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Retinal dehydrogenase 2 (RALDH 2) (RalDH2) (EC 1.2.1.36) (Aldehyde dehydrogenase family 1 member A2) (Retinaldehyde-specific dehydrogenase type 2) (RALDH(II))

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; perinuclear region of cytoplasm [GO:0048471]; 3-chloroallyl aldehyde dehydrogenase activity [GO:0004028]; aldehyde dehydrogenase (NAD) activity [GO:0004029]; retinal binding [GO:0016918]; retinal dehydrogenase activity [GO:0001758]; 9-cis-retinoic acid biosynthetic process [GO:0042904]; blood vessel development [GO:0001568]; cardiac muscle tissue development [GO:0048738]; cellular response to retinoic acid [GO:0071300]; determination of bilateral symmetry [GO:0009855]; embryonic camera-type eye development [GO:0031076]; embryonic digestive tract development [GO:0048566]; embryonic forelimb morphogenesis [GO:0035115]; face development [GO:0060324]; heart morphogenesis [GO:0003007]; hindbrain development [GO:0030902]; kidney development [GO:0001822]; liver development [GO:0001889]; lung development [GO:0030324]; midgut development [GO:0007494]; morphogenesis of embryonic epithelium [GO:0016331]; negative regulation of cell proliferation [GO:0008285]; neural crest cell development [GO:0014032]; neural tube development [GO:0021915]; neuron differentiation [GO:0030182]; pancreas development [GO:0031016]; pituitary gland development [GO:0021983]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cell proliferation [GO:0008284]; positive regulation of gene expression [GO:0010628]; proximal/distal pattern formation [GO:0009954]; regulation of endothelial cell proliferation [GO:0001936]; response to cytokine [GO:0034097]; response to estradiol [GO:0032355]; response to vitamin A [GO:0033189]; retinal metabolic process [GO:0042574]; retinoic acid metabolic process [GO:0042573]; retinoic acid receptor signaling pathway involved in somitogenesis [GO:0090242]; retinol metabolic process [GO:0042572]; ureter maturation [GO:0035799]; vitamin A metabolic process [GO:0006776]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O94788-1; Sequence=Displayed; Name=2; IsoId=O94788-2; Sequence=VSP_017363; Note=No experimental confirmation available.; Name=3; IsoId=O94788-3; Sequence=VSP_044496; Note=No experimental confirmation available.; Name=4; IsoId=O94788-4; Sequence=VSP_047259; 


uniprotID: Q9BZ11
geneSymbol: ADAM33
pdb: 1R54;1R55;
name: Disintegrin and metalloproteinase domain-containing protein 33 (ADAM 33) (EC 3.4.24.-)
length: 813
go: ENSG00000149451;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; metalloendopeptidase activity [GO:0004222]; zinc ion binding [GO:0008270]; proteolysis [GO:0006508]

snps:
rs41467948 rs3918392 rs41534847 rs41459049 rs41483049 rs41419248 rs41382144 rs615436 rs41453444 rs3918396 rs41434648 rs41462450 rs2280091 rs2280090 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BZ11-1; Sequence=Displayed; Name=2; IsoId=Q9BZ11-2; Sequence=VSP_005495; Name=3; IsoId=Q9BZ11-3; Sequence=VSP_015421, VSP_005495; Note=No experimental confirmation available. By similarity with mouse isoform.; 


uniprotID: C9J069
geneSymbol: AJM1
name: Apical junction component 1 homolog
length: 976
go: ENSG00000232434;
sequence:

opentargets:
adherens junction [GO:0005912]; apical plasma membrane [GO:0016324]; cilium [GO:0005929]; cell-cell junction organization [GO:0045216]

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000250|UniProtKB:A0A1C3NSL9}. Cell projection, cilium {ECO:0000250|UniProtKB:A0A1C3NSL9}. Cell junction, adherens junction {ECO:0000250|UniProtKB:A0A1C3NSL9}.


uniprotID: Q96PE1
geneSymbol: ADGRA2
length: 1338
go: ENSG00000020181;
name:
Adhesion G protein-coupled receptor A2 (G-protein coupled receptor 124) (Tumor endothelial marker 5)

sequence:

opentargets:
cell surface [GO:0009986]; filopodium [GO:0030175]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; cell surface receptor signaling pathway [GO:0007166]; central nervous system development [GO:0007417]; endothelial cell migration [GO:0043542]; G protein-coupled receptor signaling pathway [GO:0007186]; negative regulation of vascular endothelial growth factor signaling pathway [GO:1900747]; positive regulation of endothelial cell migration [GO:0010595]; regulation of angiogenesis [GO:0045765]; regulation of chemotaxis [GO:0050920]; regulation of establishment of blood-brain barrier [GO:0090210]; sprouting angiogenesis [GO:0002040]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96PE1-1; Sequence=Displayed; Name=2; IsoId=Q96PE1-2; Sequence=VSP_010076; Name=3; IsoId=Q96PE1-3; Sequence=VSP_036215; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:16982628, ECO:0000269|PubMed:21421844, ECO:0000269|PubMed:22013897}; Multi-pass membrane protein {ECO:0000255}. Cell projection, filopodium {ECO:0000269|PubMed:21421844}. Note=Enriched at lateral cell borders and also at sites of cell-ECM (extracellular matrix) contact. {ECO:0000269|PubMed:21421844}.


uniprotID: Q8WWF8
geneSymbol: CAPSL
name: Calcyphosin-like protein
length: 208
go: ENSG00000152611;
opentargets: cytoplasm [GO:0005737]; calcium ion binding [GO:0005509]
snps: rs1445898 rs1345826
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:


uniprotID: P51648
geneSymbol: ALDH3A2
reactome: R-HSA-1660661;R-HSA-389599;
pdb: 4QGK;
length: 485
go: ENSG00000072210;
drug: DB00157;
name:
Fatty aldehyde dehydrogenase (EC 1.2.1.3) (Aldehyde dehydrogenase 10) (Aldehyde dehydrogenase family 3 member A2) (Microsomal aldehyde dehydrogenase)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; peroxisomal membrane [GO:0005778]; peroxisome [GO:0005777]; 3-chloroallyl aldehyde dehydrogenase activity [GO:0004028]; aldehyde dehydrogenase (NAD) activity [GO:0004029]; glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity [GO:0043878]; long-chain-alcohol oxidase activity [GO:0046577]; long-chain-aldehyde dehydrogenase activity [GO:0050061]; medium-chain-aldehyde dehydrogenase activity [GO:0052814]; protein homodimerization activity [GO:0042803]; cellular aldehyde metabolic process [GO:0006081]; central nervous system development [GO:0007417]; epidermis development [GO:0008544]; fatty acid alpha-oxidation [GO:0001561]; hexadecanal metabolic process [GO:0046458]; oxidation-reduction process [GO:0055114]; peripheral nervous system development [GO:0007422]; phytol metabolic process [GO:0033306]; sesquiterpenoid metabolic process [GO:0006714]; sphingolipid biosynthetic process [GO:0030148]

snps:
rs72547556 rs72547558 rs72547559 rs72547560 rs72547562 rs72547563 rs72547564 rs72547565 rs72547566 rs72547567 rs72547568 rs72547569 rs72547570 rs72547571 rs72547572 rs72547573 rs72547575 rs778115541 rs72547576 rs768290318 rs67939114 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P51648-1; Sequence=Displayed; Name=2; IsoId=P51648-2; Sequence=VSP_001283; 

location:
SUBCELLULAR LOCATION: Microsome membrane {ECO:0000269|PubMed:9133646}; Single-pass membrane protein {ECO:0000305|PubMed:25047030, ECO:0000305|PubMed:9133646}. Endoplasmic reticulum membrane {ECO:0000305|PubMed:9133646}; Single-pass membrane protein {ECO:0000305|PubMed:25047030, ECO:0000305|PubMed:9133646}; Cytoplasmic side {ECO:0000250|UniProtKB:P30839}.


uniprotID: P55198
geneSymbol: MLLT6
name: Protein AF-17 (ALL1-fused gene from chromosome 17 protein)
length: 1093
go: ENSG00000275023;
snps: rs17855918 rs2241012
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; histone binding [GO:0042393]; metal ion binding [GO:0046872]; nucleosome binding [GO:0031491]; negative regulation of histone H3-K79 methylation [GO:2001161]; negative regulation of urine volume [GO:0035811]; positive regulation of sodium ion transport [GO:0010765]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription, DNA-templated [GO:0006355]; renal potassium excretion [GO:0036359]; renal sodium excretion [GO:0035812]


uniprotID: O43687
geneSymbol: AKAP7
length: 104
go: ENSG00000118507;
name:
A-kinase anchor protein 7 isoforms alpha and beta (AKAP-7 isoforms alpha and beta) (A-kinase anchor protein 18 kDa) (AKAP 18) (Protein kinase A-anchoring protein 7 isoforms alpha/beta) (PRKA7 isoforms alpha/beta)

sequence:
MGQLCCFPFSRDEGKISELESSSSAVLQRYSKDIPSWSSGEKNGGEPDDAELVRLSKRLVENAVLKAVQQYLEETQNKNKPGEGSSVKTEAADQNGNDNENNRK

opentargets:
apical plasma membrane [GO:0016324]; intracellular [GO:0005622]; lateral plasma membrane [GO:0016328]; plasma membrane [GO:0005886]; protein kinase A binding [GO:0051018]; action potential [GO:0001508]; cellular response to cAMP [GO:0071320]; intracellular signal transduction [GO:0035556]; ion transport [GO:0006811]; positive regulation of delayed rectifier potassium channel activity [GO:1902261]; positive regulation of potassium ion transmembrane transport [GO:1901381]; protein localization [GO:0008104]; regulation of membrane repolarization [GO:0060306]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional isoforms seem to exist.; Name=Beta; IsoId=O43687-1; Sequence=Displayed; Name=Alpha; IsoId=O43687-2; Sequence=VSP_004101; Name=Gamma; IsoId=Q9P0M2-1; Sequence=External; 

location:
SUBCELLULAR LOCATION: Isoform Alpha: Lateral cell membrane; Lipid-anchor. Note=Targeted predominantly to the lateral membrane.; SUBCELLULAR LOCATION: Isoform Beta: Apical cell membrane; Lipid-anchor. Note=Targeted predominantly to the apical membrane.


uniprotID: P48448
geneSymbol: ALDH3B2
reactome: R-HSA-1660661;
name: Aldehyde dehydrogenase family 3 member B2 (EC 1.2.1.5) (Aldehyde dehydrogenase 8)
length: 385
go: ENSG00000132746;
drug: DB00157;
snps: rs3741178 rs1551888 rs6591270 rs2447571 rs17856219 rs4646826 rs1551886
location: SUBCELLULAR LOCATION: Lipid droplet {ECO:0000250|UniProtKB:E9Q3E1}.
sequence:

opentargets:
lipid droplet [GO:0005811]; 3-chloroallyl aldehyde dehydrogenase activity [GO:0004028]; aldehyde dehydrogenase [NAD(P)+] activity [GO:0004030]; alcohol metabolic process [GO:0006066]; ethanol catabolic process [GO:0006068]; lipid metabolic process [GO:0006629]; sphingolipid biosynthetic process [GO:0030148]


uniprotID: P52895
geneSymbol: AKR1C2
reactome: R-HSA-193368;R-HSA-193775;R-HSA-193807;
pdb: 1IHI;1J96;1XJB;2HDJ;2IPJ;4JQ1;4JQ2;4JQ3;4JQ4;4JQA;4JTQ;4JTR;4L1W;4L1X;4XO6;4XO7;
length: 323
go: ENSG00000151632;
drug: DB03461;DB00157;DB01586;
snps: rs2854482 rs387906750 rs797044460 rs11474 rs387906751
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
name:
Aldo-keto reductase family 1 member C2 (EC 1.-.-.-) (3-alpha-HSD3) (Chlordecone reductase homolog HAKRD) (Dihydrodiol dehydrogenase 2) (DD-2) (DD2) (Dihydrodiol dehydrogenase/bile acid-binding protein) (DD/BABP) (Trans-1,2-dihydrobenzene-1,2-diol dehydrogenase) (EC 1.3.1.20) (Type III 3-alpha-hydroxysteroid dehydrogenase) (EC 1.1.1.357)

sequence:

opentargets:
cytoplasm [GO:0005737]; alcohol dehydrogenase (NADP+) activity [GO:0008106]; alditol:NADP+ 1-oxidoreductase activity [GO:0004032]; bile acid binding [GO:0032052]; carboxylic acid binding [GO:0031406]; ketosteroid monooxygenase activity [GO:0047086]; oxidoreductase activity [GO:0016491]; oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor [GO:0016655]; phenanthrene 9,10-monooxygenase activity [GO:0018636]; steroid dehydrogenase activity [GO:0016229]; trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity [GO:0047115]; cellular response to jasmonic acid stimulus [GO:0071395]; cellular response to prostaglandin D stimulus [GO:0071799]; daunorubicin metabolic process [GO:0044597]; digestion [GO:0007586]; doxorubicin metabolic process [GO:0044598]; epithelial cell differentiation [GO:0030855]; G protein-coupled receptor signaling pathway [GO:0007186]; oxidation-reduction process [GO:0055114]; positive regulation of cell proliferation [GO:0008284]; positive regulation of protein kinase B signaling [GO:0051897]; progesterone metabolic process [GO:0042448]; prostaglandin metabolic process [GO:0006693]; steroid metabolic process [GO:0008202]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P52895-1; Sequence=Displayed; Name=2; IsoId=P52895-2; Sequence=VSP_043779, VSP_043780; Note=No experimental confirmation available.; 


uniprotID: Q9NVV5
geneSymbol: AIG1
name: Androgen-induced gene 1 protein (AIG-1)
length: 245
go: ENSG00000146416;
snps: rs1053193
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
endomembrane system [GO:0012505]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; hydrolase activity [GO:0016787]; long-chain fatty acid catabolic process [GO:0042758]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q9NVV5-1; Sequence=Displayed; Name=2; IsoId=Q9NVV5-2; Sequence=VSP_012318; Name=3; IsoId=Q9NVV5-3; Sequence=VSP_012315, VSP_012318; Name=4; IsoId=Q9NVV5-4; Sequence=VSP_012314, VSP_012318; Note=No experimental confirmation available.; Name=5; IsoId=Q9NVV5-5; Sequence=VSP_012316, VSP_012317; Note=No experimental confirmation available.; Name=6; IsoId=Q9NVV5-6; Sequence=VSP_054641; Note=No experimental confirmation available.; 


uniprotID: P24298
geneSymbol: GPT
reactome: R-HSA-70614;
length: 496
go: ENSG00000167701;
drug: DB00160;DB00142;DB00780;DB00114;DB09325;
snps: rs1063739 rs141505249 rs147998249
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Alanine aminotransferase 1 (ALT1) (EC 2.6.1.2) (Glutamate pyruvate transaminase 1) (GPT 1) (Glutamic--alanine transaminase 1) (Glutamic--pyruvic transaminase 1)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; L-alanine:2-oxoglutarate aminotransferase activity [GO:0004021]; pyridoxal phosphate binding [GO:0030170]; cellular amino acid biosynthetic process [GO:0008652]; L-alanine catabolic process [GO:0042853]


uniprotID: P02768
geneSymbol: ALB
name: Serum albumin
length: 609
go: ENSG00000163631;
location: SUBCELLULAR LOCATION: Secreted.
reactome:
R-HSA-114608;R-HSA-159418;R-HSA-2168880;R-HSA-381426;R-HSA-5619058;R-HSA-5619110;R-HSA-879518;R-HSA-8957275;R-HSA-8964058;

pdb:
1AO6;1BJ5;1BKE;1BM0;1E78;1E7A;1E7B;1E7C;1E7E;1E7F;1E7G;1E7H;1E7I;1GNI;1GNJ;1H9Z;1HA2;1HK1;1HK2;1HK3;1HK4;1HK5;1N5U;1O9X;1TF0;1UOR;1YSX;2BX8;2BXA;2BXB;2BXC;2BXD;2BXE;2BXF;2BXG;2BXH;2BXI;2BXK;2BXL;2BXM;2BXN;2BXO;2BXP;2BXQ;2ESG;2I2Z;2I30;2N0X;2VDB;2VUE;2VUF;2XSI;2XVQ;2XVU;2XVV;2XVW;2XW0;2XW1;2YDF;3A73;3B9L;3B9M;3CX9;3JQZ;3JRY;3LU6;3LU7;3LU8;3SQJ;3TDL;3UIV;4BKE;4E99;4EMX;4G03;4G04;4HGK;4HGM;4IW1;4IW2;4K2C;4K71;4L8U;4L9K;4L9Q;4LA0;4LB2;4LB9;4N0F;4N0U;4S1Y;4Z69;5FUO;5GIX;5GIY;5ID7;5IFO;5IJF;5UJB;5VNW;5X52;5YB1;5YOQ;6EZQ;

sequence:

opentargets:
blood microparticle [GO:0072562]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; myelin sheath [GO:0043209]; nucleus [GO:0005634]; platelet alpha granule lumen [GO:0031093]; protein-containing complex [GO:0032991]; antioxidant activity [GO:0016209]; chaperone binding [GO:0051087]; copper ion binding [GO:0005507]; DNA binding [GO:0003677]; drug binding [GO:0008144]; fatty acid binding [GO:0005504]; identical protein binding [GO:0042802]; pyridoxal phosphate binding [GO:0030170]; toxic substance binding [GO:0015643]; cellular protein metabolic process [GO:0044267]; cellular response to starvation [GO:0009267]; hemolysis by symbiont of host erythrocytes [GO:0019836]; high-density lipoprotein particle remodeling [GO:0034375]; maintenance of mitochondrion location [GO:0051659]; negative regulation of apoptotic process [GO:0043066]; negative regulation of programmed cell death [GO:0043069]; platelet degranulation [GO:0002576]; post-translational protein modification [GO:0043687]; receptor-mediated endocytosis [GO:0006898]; retina homeostasis [GO:0001895]

drug:
DB07517;DB07992;DB05812;DB01418;DB01614;DB00945;DB00459;DB00802;DB00321;DB00415;DB04557;DB00995;DB07402;DB01294;DB08907;DB01197;DB00456;DB01327;DB00274;DB01328;DB01329;DB00493;DB01330;DB00430;DB01212;DB00482;DB00567;DB00477;DB01242;DB01068;DB01147;DB03600;DB01189;DB00829;DB00586;DB00861;DB01396;DB04855;DB00228;DB08899;DB00530;DB00199;DB00783;DB00655;DB04574;DB00903;DB00749;DB00573;DB00544;DB00472;DB00712;DB01320;DB06716;DB00695;DB00743;DB06705;DB01044;DB00317;DB01120;DB01016;DB01159;DB00070;DB06205;DB01050;DB00619;DB00328;DB01307;DB04711;DB00762;DB00753;DB08820;DB01587;DB01009;DB03017;DB00451;DB00279;DB01583;DB00678;DB09280;DB08932;DB01397;DB00931;DB00563;DB06710;DB08893;DB00688;DB08231;DB01183;DB00788;DB00731;DB00717;DB00540;DB00334;DB04224;DB00776;DB06412;DB03585;DB03796;DB00454;DB00946;DB00252;DB01621;DB00554;DB08860;DB06209;DB00635;DB01032;DB00818;DB00912;DB01045;DB08931;DB00412;DB01098;DB06201;DB00936;DB01232;DB01236;DB06290;DB00815;DB03193;DB00364;DB01581;DB01582;DB00576;DB01015;DB00605;DB00864;DB05521;DB00624;DB00759;DB01622;DB01623;DB01056;DB08895;DB08867;DB00177;DB00512;DB05294;DB08881;DB08828;DB00682;DB00137;DB00495;

snps:
rs80008208 rs72552709 rs74821926 rs74821926 rs74821926 rs75353611 rs76285851 rs141733599 rs77050410 rs78574148 rs77892378 rs80296402 rs77238412 rs75522063 rs77752336 rs80095457 rs77656691 rs3210154 rs3204504 rs3210163 rs75002628 rs75002628 rs79804069 rs79377490 rs80002911 rs79744198 rs74718349 rs72552710 rs76242087 rs76242087 rs77544362 rs78953271 rs72552711 rs77354753 rs76593094 rs75791663 rs75069738 rs77187142 rs78538497 rs78166690 rs77514449 rs79047363 rs79047363 rs76483862 rs78575701 rs1063469 rs80259813 rs75920790 rs75523493 rs74826639 rs78284052 rs77645174 rs80345158 rs79738788 rs79738788 rs76671808 rs76587671 rs75709682 rs79228041 rs80106970 rs75738598 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P02768-1; Sequence=Displayed; Name=2; IsoId=P02768-2; Sequence=VSP_021275; Name=3; IsoId=P02768-3; Sequence=VSP_057389; Note=No experimental confirmation available.; 


uniprotID: A6NIR3
geneSymbol: AGAP5
length: 686
opentargets: nucleus [GO:0005634]; GTPase activator activity [GO:0005096]; metal ion binding [GO:0046872]
name:
Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 5 (AGAP-5) (Centaurin-gamma-like family member 2)

sequence:


uniprotID: Q8N8R7
geneSymbol: ARL14EP
name: ARL14 effector protein (ARF7 effector protein)
length: 260
go: ENSG00000152219;
snps: rs7940297
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21458045}.
sequence:

opentargets:
cytosol [GO:0005829]; focal adhesion [GO:0005925]; intracellular membrane-bounded organelle [GO:0043231]; nucleolus [GO:0005730]; nucleus [GO:0005634]; plasma membrane [GO:0005886]


uniprotID: C9JRZ8
geneSymbol: AKR1B15
reactome: R-HSA-193144;
length: 316
go: ENSG00000227471;
name:
Aldo-keto reductase family 1 member B15 (EC 1.1.1.-) (Estradiol 17-beta-dehydrogenase AKR1B15) (EC 1.1.1.62)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; alcohol dehydrogenase (NADP+) activity [GO:0008106]; alditol:NADP+ 1-oxidoreductase activity [GO:0004032]; estradiol 17-beta-dehydrogenase activity [GO:0004303]; oxidoreductase activity [GO:0016491]; oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor [GO:0016616]; estrogen biosynthetic process [GO:0006703]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=AKR1B15.1 {ECO:0000303|PubMed:25577493}; IsoId=C9JRZ8-1; Sequence=Displayed; Name=2; Synonyms=AKR1B15.2 {ECO:0000303|PubMed:25577493}; IsoId=C9JRZ8-2; Sequence=VSP_041606; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Mitochondrion {ECO:0000269|PubMed:25577493}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm, cytosol {ECO:0000269|PubMed:25577493}.


uniprotID: Q96Q35
geneSymbol: ALS2CR12
name: Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 protein
length: 445
go: ENSG00000155749;
opentargets: cytoplasm [GO:0005737]; motile cilium [GO:0031514]
snps: rs13014235
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96Q35-1; Sequence=Displayed; Name=2; IsoId=Q96Q35-2; Sequence=VSP_046184; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q8BVM7}. Cytoplasmic granule {ECO:0000250|UniProtKB:Q8BVM7}. Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:Q8BVM7}. Note=Expressed in the principal piece of the sperm tail, nearest the sperm head. {ECO:0000250|UniProtKB:Q8BVM7}.


uniprotID: P02760
geneSymbol: AMBP
reactome: R-HSA-2168880;
pdb: 1BIK;3QKG;4ES7;4U30;6EJ7;6EJ8;6EJ9;6EJA;6EJB;6EJC;6EJD;
length: 352
go: ENSG00000106927;
drug: DB00062;DB00064;
location: SUBCELLULAR LOCATION: Secreted.
name:
Protein AMBP [Cleaved into: Alpha-1-microglobulin (Protein HC) (Alpha-1 microglycoprotein) (Complex-forming glycoprotein heterogeneous in charge); Inter-alpha-trypsin inhibitor light chain (ITI-LC) (Bikunin) (EDC1) (HI-30) (Uronic-acid-rich protein); Trypstatin]

sequence:

opentargets:
blood microparticle [GO:0072562]; cell surface [GO:0009986]; collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular membrane-bounded organelle [GO:0043231]; plasma membrane [GO:0005886]; calcium channel inhibitor activity [GO:0019855]; calcium oxalate binding [GO:0046904]; heme binding [GO:0020037]; IgA binding [GO:0019862]; protein homodimerization activity [GO:0042803]; serine-type endopeptidase inhibitor activity [GO:0004867]; cell adhesion [GO:0007155]; female pregnancy [GO:0007565]; heme catabolic process [GO:0042167]; negative regulation of immune response [GO:0050777]; negative regulation of JNK cascade [GO:0046329]; protein catabolic process [GO:0030163]; protein-chromophore linkage [GO:0018298]; receptor-mediated endocytosis [GO:0006898]; viral process [GO:0016032]


uniprotID: Q9BTT0
geneSymbol: ANP32E
pdb: 4CAY;4NFT;
name: Acidic leucine-rich nuclear phosphoprotein 32 family member E (LANP-like protein) (LANP-L)
length: 268
go: ENSG00000143401;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.
sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; nucleus [GO:0005634]; Swr1 complex [GO:0000812]; histone binding [GO:0042393]; phosphatase inhibitor activity [GO:0019212]; histone exchange [GO:0043486]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BTT0-1; Sequence=Displayed; Name=2; IsoId=Q9BTT0-2; Sequence=VSP_045618; Note=No experimental confirmation available.; Name=3; IsoId=Q9BTT0-3; Sequence=VSP_047262; Note=Gene prediction based on EST data.; 


uniprotID: P10275
geneSymbol: AR
reactome: R-HSA-3371497;R-HSA-383280;R-HSA-4090294;R-HSA-5625886;R-HSA-5689880;R-HSA-8940973;
name: Androgen receptor (Dihydrotestosterone receptor) (Nuclear receptor subfamily 3 group C member 4)
length: 920
go: ENSG00000169083;
pdb:
1E3G;1GS4;1T5Z;1T63;1T65;1XJ7;1XOW;1XQ3;1Z95;2AM9;2AMA;2AMB;2AO6;2AX6;2AX7;2AX8;2AX9;2AXA;2HVC;2OZ7;2PIO;2PIP;2PIQ;2PIR;2PIT;2PIU;2PIV;2PIW;2PIX;2PKL;2PNU;2Q7I;2Q7J;2Q7K;2Q7L;2YHD;2YLO;2YLP;2YLQ;2Z4J;3B5R;3B65;3B66;3B67;3B68;3BTR;3L3X;3L3Z;3RLJ;3RLL;3V49;3V4A;3ZQT;4HLW;4K7A;4OEA;4OED;4OEY;4OEZ;4OFR;4OFU;4OGH;4OH5;4OH6;4OHA;4OIL;4OIU;4OJ9;4OJB;4OK1;4OKB;4OKT;4OKW;4OKX;4OLM;4QL8;5CJ6;5JJM;5T8E;5T8J;5V8Q;5VO4;

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear chromatin [GO:0000790]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; androgen binding [GO:0005497]; androgen receptor activity [GO:0004882]; ATPase binding [GO:0051117]; beta-catenin binding [GO:0008013]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; enzyme binding [GO:0019899]; nuclear receptor activity [GO:0004879]; POU domain binding [GO:0070974]; protein dimerization activity [GO:0046983]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II basal transcription factor binding [GO:0001091]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II transcription factor binding [GO:0001085]; signaling receptor binding [GO:0005102]; steroid binding [GO:0005496]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; zinc ion binding [GO:0008270]; activation of prostate induction by androgen receptor signaling pathway [GO:0060520]; androgen receptor signaling pathway [GO:0030521]; animal organ formation [GO:0048645]; cell proliferation [GO:0008283]; cell-cell signaling [GO:0007267]; cellular response to steroid hormone stimulus [GO:0071383]; cellular response to testosterone stimulus [GO:0071394]; epithelial cell differentiation involved in prostate gland development [GO:0060742]; epithelial cell morphogenesis [GO:0003382]; in utero embryonic development [GO:0001701]; intracellular receptor signaling pathway [GO:0030522]; lateral sprouting involved in mammary gland duct morphogenesis [GO:0060599]; Leydig cell differentiation [GO:0033327]; male genitalia morphogenesis [GO:0048808]; male somatic sex determination [GO:0019102]; mammary gland alveolus development [GO:0060749]; morphogenesis of an epithelial fold [GO:0060571]; multicellular organism growth [GO:0035264]; negative regulation of cell proliferation [GO:0008285]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of extrinsic apoptotic signaling pathway [GO:2001237]; negative regulation of integrin biosynthetic process [GO:0045720]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of cell differentiation [GO:0045597]; positive regulation of cell proliferation [GO:0008284]; positive regulation of epithelial cell proliferation involved in prostate gland development [GO:0060769]; positive regulation of gene expression [GO:0010628]; positive regulation of insulin-like growth factor receptor signaling pathway [GO:0043568]; positive regulation of integrin biosynthetic process [GO:0045726]; positive regulation of intracellular estrogen receptor signaling pathway [GO:0033148]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of phosphorylation [GO:0042327]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription by RNA polymerase III [GO:0045945]; positive regulation of transcription, DNA-templated [GO:0045893]; prostate gland development [GO:0030850]; prostate gland epithelium morphogenesis [GO:0060740]; prostate gland growth [GO:0060736]; protein complex oligomerization [GO:0051259]; protein deubiquitination [GO:0016579]; regulation of catalytic activity [GO:0050790]; regulation of developmental growth [GO:0048638]; regulation of protein localization to plasma membrane [GO:1903076]; regulation of systemic arterial blood pressure [GO:0003073]; seminiferous tubule development [GO:0072520]; sex differentiation [GO:0007548]; signal transduction [GO:0007165]; single fertilization [GO:0007338]; spermatogenesis [GO:0007283]; tertiary branching involved in mammary gland duct morphogenesis [GO:0060748]; transcription initiation from RNA polymerase II promoter [GO:0006367]; transcription, DNA-templated [GO:0006351]

drug:
DB02932;DB07422;DB07419;DB07423;DB07039;DB07454;DB01128;DB01541;DB01564;DB04839;DB01406;DB01481;DB02901;DB01395;DB00858;DB08899;DB13155;DB00687;DB02266;DB01185;DB00499;DB01026;DB00367;DB05234;DB05094;DB06710;DB02998;DB08804;DB00984;DB00665;DB09389;DB00621;DB06412;DB01708;DB07769;DB00421;DB00624;DB01420;DB08867;

snps:
rs104894742 rs78686797 rs374549047 rs199554641 rs138454018 rs773996740 rs201934623 rs139524801 rs137852588 rs137852586 rs137852587 rs137852569 rs142280455 rs137852573 rs137852576 rs754201976 rs1800053 rs137852584 rs137852579 rs864622007 rs137852585 rs137852595 rs1340026226 rs137852583 rs137852593 rs768869912 rs137852571 rs137852600 rs137852600 rs1085307685 rs141425171 rs137852567 rs886041352 rs137852562 rs137852572 rs137852589 rs137852570 rs1254203917 rs137852591 rs1064793480 rs137852592 rs1057521122 rs137852577 rs9332969 rs9332970 rs886041132 rs9332971 rs137852598 rs137852597 rs137852564 rs137852564 rs137852574 rs143040492 rs137852581 rs137852578 rs137852580 rs755226547 rs886041133 rs137852582 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=AR-B; IsoId=P10275-1; Sequence=Displayed; Name=2; Synonyms=AR-A, Variant AR45; IsoId=P10275-2; Sequence=VSP_036889, VSP_036890; Name=3; Synonyms=AR3; IsoId=P10275-3; Sequence=VSP_058166, VSP_058168; Note=Minor isoform up-regulated in prostate cancer cells. {ECO:0000269|PubMed:19244107}; Name=4; Synonyms=AR4; IsoId=P10275-4; Sequence=VSP_058167, VSP_058169; Note=Minor isoform identified in prostate cancer cells. {ECO:0000269|PubMed:19244107}; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12958311, ECO:0000269|PubMed:15634333, ECO:0000269|PubMed:17587566, ECO:0000269|PubMed:19244107, ECO:0000269|PubMed:19345326, ECO:0000269|PubMed:25091737}. Cytoplasm {ECO:0000269|PubMed:12958311, ECO:0000269|PubMed:17587566, ECO:0000269|PubMed:19244107}. Note=Detected at the promoter of target genes (PubMed:25091737). Predominantly cytoplasmic in unligated form but translocates to the nucleus upon ligand-binding. Can also translocate to the nucleus in unligated form in the presence of RACK1. {ECO:0000269|PubMed:12958311, ECO:0000269|PubMed:17587566, ECO:0000269|PubMed:25091737}.


uniprotID: Q86W34
geneSymbol: AMZ2
name: Archaemetzincin-2 (EC 3.4.-.-) (Archeobacterial metalloproteinase-like protein 2)
length: 360
go: ENSG00000196704;
snps: rs3213690 rs3207194
sequence:

opentargets:
metallopeptidase activity [GO:0008237]; peptidase activity [GO:0008233]; zinc ion binding [GO:0008270]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86W34-4; Sequence=Displayed; Name=2; IsoId=Q86W34-5; Sequence=VSP_047263; Note=Gene prediction based on EST data.; 


uniprotID: Q8IZF6
geneSymbol: ADGRG4
name: Adhesion G-protein coupled receptor G4 (G-protein coupled receptor 112)
length: 3080
go: ENSG00000156920;
snps: rs4829829 rs5930931 rs4829830 rs912002 rs5930932
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}.
sequence:

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

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IZF6-1; Sequence=Displayed; Name=2; IsoId=Q8IZF6-2; Sequence=VSP_038170, VSP_038173, VSP_038174, VSP_038175, VSP_038176; Name=3; IsoId=Q8IZF6-3; Sequence=VSP_038171, VSP_038172; Note=No experimental confirmation available.; 


uniprotID: Q8IZF4
geneSymbol: ADGRG5
length: 528
go: ENSG00000159618;
name:
Adhesion G-protein coupled receptor G5 (G-protein coupled receptor 114) (G-protein coupled receptor PGR27)

sequence:

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q3V3Z3}; Multi-pass membrane protein {ECO:0000305|PubMed:25713288}.


uniprotID: Q86SQ6
geneSymbol: ADGRA1
name: Adhesion G protein-coupled receptor A1 (G-protein coupled receptor 123)
length: 560
go: ENSG00000197177;
snps: rs34915504 rs34679676
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}.
sequence:

opentargets:
glutamatergic synapse [GO:0098978]; integral component of membrane [GO:0016021]; postsynaptic density [GO:0014069]; G protein-coupled receptor activity [GO:0004930]; cell surface receptor signaling pathway [GO:0007166]; G protein-coupled receptor signaling pathway [GO:0007186]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=3; IsoId=Q86SQ6-3; Sequence=Displayed; Name=1; IsoId=Q86SQ6-1; Sequence=VSP_040208, VSP_040209; Name=2; IsoId=Q86SQ6-2; Sequence=VSP_040207; Note=No experimental confirmation available.; 


uniprotID: Q9BY15
geneSymbol: ADGRE3
reactome: R-HSA-373080;R-HSA-6798695;
length: 652
go: ENSG00000131355;
snps: rs4606855 rs34226397 rs45508602
name:
Adhesion G protein-coupled receptor E3 (EGF-like module receptor 3) (EGF-like module-containing mucin-like hormone receptor-like 3)

sequence:

opentargets:
extracellular region [GO:0005576]; ficolin-1-rich granule membrane [GO:0101003]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; calcium ion binding [GO:0005509]; G protein-coupled receptor activity [GO:0004930]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; cell surface receptor signaling pathway [GO:0007166]; G protein-coupled receptor signaling pathway [GO:0007186]; neutrophil degranulation [GO:0043312]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BY15-1; Sequence=Displayed; Name=2; IsoId=Q9BY15-2; Sequence=VSP_009417; Name=3; IsoId=Q9BY15-3; Sequence=VSP_009418; Note=No experimental experiment available. Due to a 40-nucleotide deletion (nucleotides 439-479) resulting in a frameshift leading to a premature stop codon and the production of a truncated soluble form. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein {ECO:0000255}.; SUBCELLULAR LOCATION: Isoform 3: Secreted.


uniprotID: Q6UXT8
geneSymbol: ALKAL1
name: ALK and LTK ligand 1 (Augmentor beta) (AUG-beta) (Protein FAM150A)
length: 129
go: ENSG00000196711;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MRPLKPGAPLPALFLLALALSPHGAHGRPRGRRGARVTDKEPKPLLFLPAAGAGRTPSGSRSAEIFPRDSNLKDKFIKHFTGPVTFSPECSKHFHRLYYNTRECSTPAYYKRCARLLTRLAVSPLCSQT

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

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6UXT8-1; Sequence=Displayed; Name=2; IsoId=Q6UXT8-2; Sequence=VSP_055085; Note=No experimental confirmation available.; 


uniprotID: P31751
geneSymbol: AKT2
pdb: 1GZK;1GZN;1GZO;1MRV;1MRY;1O6K;1O6L;1P6S;2JDO;2JDR;2UW9;2X39;2XH5;3D0E;3E87;3E88;3E8D;
length: 481
go: ENSG00000105221;
drug: DB08073;DB07859;DB07947;
snps: rs387906659 rs55859611 rs35817154 rs121434593
reactome:
R-HSA-111447;R-HSA-1257604;R-HSA-1358803;R-HSA-1445148;R-HSA-165158;R-HSA-165160;R-HSA-165181;R-HSA-198323;R-HSA-198693;R-HSA-199418;R-HSA-211163;R-HSA-3769402;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-beta serine/threonine-protein kinase (EC 2.7.11.1) (Protein kinase Akt-2) (Protein kinase B beta) (PKB beta) (RAC-PK-beta)

sequence:

opentargets:
cell cortex [GO:0005938]; cytosol [GO:0005829]; early endosome [GO:0005769]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; ruffle membrane [GO:0032587]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; protein serine/threonine kinase activity [GO:0004674]; activation of GTPase activity [GO:0090630]; carbohydrate transport [GO:0008643]; cellular protein modification process [GO:0006464]; cellular response to high light intensity [GO:0071486]; cellular response to insulin stimulus [GO:0032869]; fat cell differentiation [GO:0045444]; glucose metabolic process [GO:0006006]; glycogen biosynthetic process [GO:0005978]; insulin receptor signaling pathway [GO:0008286]; intracellular protein transmembrane transport [GO:0065002]; intracellular signal transduction [GO:0035556]; mammary gland epithelial cell differentiation [GO:0060644]; negative regulation of apoptotic process [GO:0043066]; negative regulation of plasma membrane long-chain fatty acid transport [GO:0010748]; peptidyl-serine phosphorylation [GO:0018105]; peripheral nervous system myelin maintenance [GO:0032287]; positive regulation of cell migration [GO:0030335]; positive regulation of cell motility [GO:2000147]; positive regulation of cell proliferation [GO:0008284]; positive regulation of fatty acid beta-oxidation [GO:0032000]; positive regulation of glucose import [GO:0046326]; positive regulation of glucose import in response to insulin stimulus [GO:2001275]; positive regulation of glucose metabolic process [GO:0010907]; positive regulation of glycogen biosynthetic process [GO:0045725]; positive regulation of mitochondrial membrane potential [GO:0010918]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of protein targeting to membrane [GO:0090314]; positive regulation of vesicle fusion [GO:0031340]; protein kinase B signaling [GO:0043491]; protein localization to plasma membrane [GO:0072659]; regulation of cell cycle arrest [GO:0071156]; regulation of cell migration [GO:0030334]; regulation of translation [GO:0006417]; retinal rod cell apoptotic process [GO:0097473]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P31751-1; Sequence=Displayed; Name=2; IsoId=P31751-2; Sequence=VSP_056930; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Cell membrane; Peripheral membrane protein. Early endosome {ECO:0000250|UniProtKB:Q60823}. Note=Localizes within both nucleus and cytoplasm of proliferative primary myoblasts and mostly within the nucleus of differentiated primary myoblasts. By virtue of the N-terminal PH domain, is recruited to sites of the plasma membrane containing increased PI(3,4,5)P3 or PI(3,4)P2, cell membrane targeting is also facilitared by interaction with CLIP3. Colocalizes with WDFY2 in early endosomes (By similarity). {ECO:0000250|UniProtKB:Q60823}.


uniprotID: Q2TAA5
geneSymbol: ALG11
reactome: R-HSA-446193;R-HSA-4551295;
length: 492
go: ENSG00000253710;
snps: rs267606652 rs17480245 rs387907181 rs387907184 rs387907182 rs387907183
name:
GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase (EC 2.4.1.131) (Asparagine-linked glycosylation protein 11 homolog) (Glycolipid 2-alpha-mannosyltransferase)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity [GO:0004377]; oligosaccharide-lipid intermediate biosynthetic process [GO:0006490]; protein N-linked glycosylation [GO:0006487]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000269|PubMed:20080937}. Endoplasmic reticulum membrane {ECO:0000305|PubMed:20080937}; Multi-pass membrane protein {ECO:0000305|PubMed:20080937}.


uniprotID: Q9GZX7
geneSymbol: AICDA
pdb: 5JJ4;5W0R;5W0U;5W0Z;5W1C;
length: 198
go: ENSG00000111732;
snps: rs104894324 rs1404944797 rs104894320 rs762590894 rs104894321 rs104894322 rs104894327
name:
Single-stranded DNA cytosine deaminase (EC 3.5.4.38) (Activation-induced cytidine deaminase) (AID) (Cytidine aminohydrolase)

sequence:
MDSLLMNRRKFLYQFKNVRWAKGRRETYLCYVVKRRDSATSFSLDFGYLRNKNGCHVELLFLRYISDWDLDPGRCYRVTWFTSWSPCYDCARHVADFLRGNPNLSLRIFTARLYFCEDRKAEPEGLRRLHRAGVQIAIMTFKDYFYCWNTFVENHERTFKAWEGLHENSVRLSRQLRRILLPLYEVDDLRDAFRTLGL

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; P-body [GO:0000932]; cytidine deaminase activity [GO:0004126]; identical protein binding [GO:0042802]; RNA binding [GO:0003723]; ubiquitin protein ligase binding [GO:0031625]; zinc ion binding [GO:0008270]; B cell differentiation [GO:0030183]; cellular response to lipopolysaccharide [GO:0071222]; cytidine to uridine editing [GO:0016554]; defense response to bacterium [GO:0042742]; defense response to virus [GO:0051607]; DNA cytosine deamination [GO:0070383]; DNA demethylation [GO:0080111]; isotype switching [GO:0045190]; mRNA processing [GO:0006397]; negative regulation of methylation-dependent chromatin silencing [GO:0090310]; negative regulation of single stranded viral RNA replication via double stranded DNA intermediate [GO:0045869]; negative regulation of transposition [GO:0010529]; regulation of nuclear cell cycle DNA replication [GO:0033262]; somatic diversification of immunoglobulins [GO:0016445]; somatic hypermutation of immunoglobulin genes [GO:0016446]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9GZX7-1; Sequence=Displayed; Name=2; IsoId=Q9GZX7-2; Sequence=VSP_047803; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21385873}. Cytoplasm {ECO:0000269|PubMed:18722174, ECO:0000269|PubMed:21385873, ECO:0000269|PubMed:23166356}. Note=Predominantly cytoplasmic but shuttles between the nucleus and the cytoplasm. {ECO:0000269|PubMed:21385873}.


uniprotID: Q9UKQ2
geneSymbol: ADAM28
length: 775
go: ENSG00000042980;
drug: DB02996;DB03880;DB02215;DB02255;DB02046;DB03088;
name:
Disintegrin and metalloproteinase domain-containing protein 28 (ADAM 28) (EC 3.4.24.-) (Epididymal metalloproteinase-like, disintegrin-like, and cysteine-rich protein II) (eMDC II) (Metalloproteinase-like, disintegrin-like, and cysteine-rich protein L) (MDC-L)

sequence:

opentargets:
extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237]; spermatogenesis [GO:0007283]

snps:
rs267601860 rs9314282 rs17736699 rs267601862 rs7001647 rs267601864 rs36041430 rs35617826 rs7829965 rs7814768 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=MDC-LM; IsoId=Q9UKQ2-1; Sequence=Displayed; Name=2; Synonyms=MDC-LS; IsoId=Q9UKQ2-2; Sequence=VSP_005486, VSP_005487; 


uniprotID: P21399
geneSymbol: ACO1
reactome: R-HSA-917937;
pdb: 2B3X;2B3Y;
length: 889
go: ENSG00000122729;
drug: DB06757;
snps: rs150373174 rs3814519 rs34630459
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Cytoplasmic aconitate hydratase (Aconitase) (EC 4.2.1.3) (Citrate hydro-lyase) (Ferritin repressor protein) (Iron regulatory protein 1) (IRP1) (Iron-responsive element-binding protein 1) (IRE-BP 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; mitochondrion [GO:0005739]; 3 iron, 4 sulfur cluster binding [GO:0051538]; 4 iron, 4 sulfur cluster binding [GO:0051539]; aconitate hydratase activity [GO:0003994]; iron-responsive element binding [GO:0030350]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; cellular iron ion homeostasis [GO:0006879]; citrate metabolic process [GO:0006101]; intestinal absorption [GO:0050892]; post-embryonic development [GO:0009791]; regulation of translation [GO:0006417]; response to iron(II) ion [GO:0010040]; tricarboxylic acid cycle [GO:0006099]


uniprotID: P31749
geneSymbol: AKT1
length: 480
go: ENSG00000142208;
drug: DB00171;DB01169;
snps: rs121434592 rs397514644 rs11555433 rs397514645
reactome:
R-HSA-111447;R-HSA-1257604;R-HSA-1358803;R-HSA-1445148;R-HSA-1474151;R-HSA-165159;R-HSA-198323;R-HSA-198693;R-HSA-199418;R-HSA-203615;R-HSA-211163;R-HSA-354192;R-HSA-3769402;R-HSA-389357;R-HSA-389513;R-HSA-392451;R-HSA-450385;R-HSA-450604;R-HSA-5218920;R-HSA-5628897;R-HSA-5674400;R-HSA-6785807;R-HSA-6804757;R-HSA-6804758;R-HSA-6804759;R-HSA-6811558;R-HSA-69202;R-HSA-69656;R-HSA-8849469;R-HSA-8876198;R-HSA-8941332;R-HSA-8948751;R-HSA-9604323;

pdb:
1H10;1UNP;1UNQ;1UNR;2UVM;2UZR;2UZS;3CQU;3CQW;3MV5;3MVH;3O96;3OCB;3OW4;3QKK;3QKL;3QKM;4EJN;4EKK;4EKL;4GV1;5KCV;6BUU;6C0I;6CCY;

name:
RAC-alpha serine/threonine-protein kinase (EC 2.7.11.1) (Protein kinase B) (PKB) (Protein kinase B alpha) (PKB alpha) (Proto-oncogene c-Akt) (RAC-PK-alpha)

sequence:

opentargets:
cell-cell junction [GO:0005911]; ciliary basal body [GO:0036064]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; microtubule cytoskeleton [GO:0015630]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; postsynapse [GO:0098794]; protein-containing complex [GO:0032991]; spindle [GO:0005819]; vesicle [GO:0031982]; 14-3-3 protein binding [GO:0071889]; ATP binding [GO:0005524]; enzyme binding [GO:0019899]; GTPase activating protein binding [GO:0032794]; identical protein binding [GO:0042802]; kinase activity [GO:0016301]; nitric-oxide synthase regulator activity [GO:0030235]; phosphatidylinositol-3,4,5-trisphosphate binding [GO:0005547]; phosphatidylinositol-3,4-bisphosphate binding [GO:0043325]; protein homodimerization activity [GO:0042803]; protein kinase activity [GO:0004672]; protein kinase C binding [GO:0005080]; protein phosphatase 2A binding [GO:0051721]; protein serine/threonine kinase activity [GO:0004674]; protein serine/threonine/tyrosine kinase activity [GO:0004712]; activation of protein kinase B activity [GO:0032148]; activation-induced cell death of T cells [GO:0006924]; aging [GO:0007568]; anoikis [GO:0043276]; apoptotic mitochondrial changes [GO:0008637]; carbohydrate transport [GO:0008643]; cell differentiation [GO:0030154]; cell migration involved in sprouting angiogenesis [GO:0002042]; cell projection organization [GO:0030030]; cell proliferation [GO:0008283]; cellular protein modification process [GO:0006464]; cellular response to cadmium ion [GO:0071276]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to epidermal growth factor stimulus [GO:0071364]; cellular response to granulocyte macrophage colony-stimulating factor stimulus [GO:0097011]; cellular response to hypoxia [GO:0071456]; cellular response to insulin stimulus [GO:0032869]; cellular response to mechanical stimulus [GO:0071260]; cellular response to nerve growth factor stimulus [GO:1990090]; cellular response to organic cyclic compound [GO:0071407]; cellular response to oxidised low-density lipoprotein particle stimulus [GO:0140052]; cellular response to prostaglandin E stimulus [GO:0071380]; cellular response to reactive oxygen species [GO:0034614]; cellular response to tumor necrosis factor [GO:0071356]; cellular response to vascular endothelial growth factor stimulus [GO:0035924]; cofactor metabolic process [GO:0051186]; cytokine-mediated signaling pathway [GO:0019221]; endocrine pancreas development [GO:0031018]; epidermal growth factor receptor signaling pathway [GO:0007173]; establishment of protein localization to mitochondrion [GO:0072655]; excitatory postsynaptic potential [GO:0060079]; execution phase of apoptosis [GO:0097194]; G protein-coupled receptor signaling pathway [GO:0007186]; germ cell development [GO:0007281]; glucose homeostasis [GO:0042593]; glucose metabolic process [GO:0006006]; glycogen biosynthetic process [GO:0005978]; glycogen cell differentiation involved in embryonic placenta development [GO:0060709]; hyaluronan metabolic process [GO:0030212]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; inflammatory response [GO:0006954]; insulin receptor signaling pathway [GO:0008286]; insulin-like growth factor receptor signaling pathway [GO:0048009]; interleukin-18-mediated signaling pathway [GO:0035655]; intracellular signal transduction [GO:0035556]; labyrinthine layer blood vessel development [GO:0060716]; lipopolysaccharide-mediated signaling pathway [GO:0031663]; maintenance of protein location in mitochondrion [GO:0072656]; mammary gland epithelial cell differentiation [GO:0060644]; maternal placenta development [GO:0001893]; negative regulation of apoptotic process [GO:0043066]; negative regulation of autophagy [GO:0010507]; negative regulation of cell size [GO:0045792]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of endopeptidase activity [GO:0010951]; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001240]; negative regulation of fatty acid beta-oxidation [GO:0031999]; negative regulation of gene expression [GO:0010629]; negative regulation of JNK cascade [GO:0046329]; negative regulation of leukocyte cell-cell adhesion [GO:1903038]; negative regulation of lymphocyte migration [GO:2000402]; negative regulation of macroautophagy [GO:0016242]; negative regulation of neuron death [GO:1901215]; negative regulation of Notch signaling pathway [GO:0045746]; negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway [GO:1902176]; negative regulation of plasma membrane long-chain fatty acid transport [GO:0010748]; negative regulation of protein binding [GO:0032091]; negative regulation of protein kinase activity [GO:0006469]; negative regulation of protein kinase activity by protein phosphorylation [GO:0100002]; negative regulation of protein kinase B signaling [GO:0051898]; negative regulation of protein serine/threonine kinase activity [GO:0071901]; negative regulation of protein ubiquitination [GO:0031397]; negative regulation of proteolysis [GO:0045861]; negative regulation of release of cytochrome c from mitochondria [GO:0090201]; NIK/NF-kappaB signaling [GO:0038061]; nitric oxide biosynthetic process [GO:0006809]; osteoblast differentiation [GO:0001649]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; peripheral nervous system myelin maintenance [GO:0032287]; phosphatidylinositol 3-kinase signaling [GO:0014065]; phosphorylation [GO:0016310]; positive regulation of apoptotic process [GO:0043065]; positive regulation of blood vessel endothelial cell migration [GO:0043536]; positive regulation of cell growth [GO:0030307]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cellular protein metabolic process [GO:0032270]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of endodeoxyribonuclease activity [GO:0032079]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of epidermal growth factor receptor signaling pathway [GO:0045742]; positive regulation of fat cell differentiation [GO:0045600]; positive regulation of fibroblast migration [GO:0010763]; positive regulation of gene expression [GO:0010628]; positive regulation of glucose import [GO:0046326]; positive regulation of glucose metabolic process [GO:0010907]; positive regulation of glycogen biosynthetic process [GO:0045725]; positive regulation of I-kappaB phosphorylation [GO:1903721]; positive regulation of lipid biosynthetic process [GO:0046889]; positive regulation of mitochondrial membrane potential [GO:0010918]; positive regulation of nitric oxide biosynthetic process [GO:0045429]; positive regulation of nitric-oxide synthase activity [GO:0051000]; positive regulation of organ growth [GO:0046622]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; positive regulation of protein localization to cell surface [GO:2000010]; positive regulation of protein localization to nucleus [GO:1900182]; positive regulation of protein localization to plasma membrane [GO:1903078]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of smooth muscle cell proliferation [GO:0048661]; positive regulation of sodium ion transport [GO:0010765]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of vasoconstriction [GO:0045907]; protein autophosphorylation [GO:0046777]; protein catabolic process [GO:0030163]; protein import into nucleus, translocation [GO:0000060]; protein kinase B signaling [GO:0043491]; protein phosphorylation [GO:0006468]; protein ubiquitination [GO:0016567]; regulation of apoptotic process [GO:0042981]; regulation of cell migration [GO:0030334]; regulation of glycogen biosynthetic process [GO:0005979]; regulation of mRNA stability [GO:0043488]; regulation of myelination [GO:0031641]; regulation of neuron projection development [GO:0010975]; regulation of nitric-oxide synthase activity [GO:0050999]; regulation of signal transduction by p53 class mediator [GO:1901796]; regulation of translation [GO:0006417]; response to fluid shear stress [GO:0034405]; response to food [GO:0032094]; response to growth hormone [GO:0060416]; response to heat [GO:0009408]; response to insulin-like growth factor stimulus [GO:1990418]; response to oxidative stress [GO:0006979]; response to UV-A [GO:0070141]; signal transduction [GO:0007165]; spinal cord development [GO:0021510]; striated muscle cell differentiation [GO:0051146]; T cell costimulation [GO:0031295]; TOR signaling [GO:0031929]; translation [GO:0006412]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P31749-1; Sequence=Displayed; Name=2; IsoId=P31749-2; Sequence=VSP_056180; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P31750}. Nucleus. Cell membrane {ECO:0000250|UniProtKB:P31750}. Note=Nucleus after activation by integrin-linked protein kinase 1 (ILK1). Nuclear translocation is enhanced by interaction with TCL1A. Phosphorylation on Tyr-176 by TNK2 results in its localization to the cell membrane where it is targeted for further phosphorylations on Thr-308 and Ser-473 leading to its activation and the activated form translocates to the nucleus. Colocalizes with WDFY2 in intracellular vesicles (PubMed:16792529). {ECO:0000269|PubMed:16792529}.


uniprotID: A6NCL7
geneSymbol: ANKRD33B
name: Ankyrin repeat domain-containing protein 33B
length: 494
go: ENSG00000164236;
sequence:


uniprotID: Q8N2N9
geneSymbol: ANKRD36B
name: Ankyrin repeat domain-containing protein 36B (CLL-associated antigen KW-1)
length: 1353
go: ENSG00000196912;
snps: rs1839230 rs13001728 rs6761299
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8N2N9-1; Sequence=Displayed; Name=2; IsoId=Q8N2N9-2; Sequence=VSP_039668, VSP_039671; Name=3; IsoId=Q8N2N9-3; Sequence=VSP_039669, VSP_039670; Name=4; IsoId=Q8N2N9-4; Sequence=VSP_039666, VSP_039667; 


uniprotID: Q5JPF3
geneSymbol: ANKRD36C
length: 1778
go: ENSG00000174501;
opentargets: ion channel inhibitor activity [GO:0008200]
name:
Ankyrin repeat domain-containing protein 36C (Protein immuno-reactive with anti-PTH polyclonal antibodies)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5JPF3-1; Sequence=Displayed; Name=2; IsoId=Q5JPF3-2; Sequence=VSP_033675; Name=3; IsoId=Q5JPF3-3; Sequence=VSP_039672, VSP_039673, VSP_039674; 


uniprotID: Q13023
geneSymbol: AKAP6
length: 2319
go: ENSG00000151320;
name:
A-kinase anchor protein 6 (AKAP-6) (A-kinase anchor protein 100 kDa) (AKAP 100) (Protein kinase A-anchoring protein 6) (PRKA6) (mAKAP)

sequence:

opentargets:
calcium channel complex [GO:0034704]; caveola [GO:0005901]; cytoplasm [GO:0005737]; intercalated disc [GO:0014704]; junctional sarcoplasmic reticulum membrane [GO:0014701]; nuclear envelope [GO:0005635]; nuclear membrane [GO:0031965]; perinuclear region of cytoplasm [GO:0048471]; sarcoplasmic reticulum [GO:0016529]; T-tubule [GO:0030315]; adenylate cyclase binding [GO:0008179]; ion channel binding [GO:0044325]; protein kinase A binding [GO:0051018]; protein kinase A regulatory subunit binding [GO:0034237]; protein membrane anchor [GO:0043495]; protein-containing complex scaffold activity [GO:0032947]; action potential [GO:0001508]; cAMP-mediated signaling [GO:0019933]; cellular response to cAMP [GO:0071320]; cellular response to cytokine stimulus [GO:0071345]; positive regulation of calcineurin-NFAT signaling cascade [GO:0070886]; positive regulation of cell growth [GO:0030307]; positive regulation of cell growth involved in cardiac muscle cell development [GO:0061051]; positive regulation of delayed rectifier potassium channel activity [GO:1902261]; positive regulation of phosphoprotein phosphatase activity [GO:0032516]; positive regulation of potassium ion transmembrane transport [GO:1901381]; positive regulation of release of sequestered calcium ion into cytosol [GO:0051281]; positive regulation of ryanodine-sensitive calcium-release channel activity [GO:0060316]; protein targeting [GO:0006605]; regulation of membrane repolarization [GO:0060306]; regulation of protein kinase A signaling [GO:0010738]; regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum [GO:0010880]

snps:
rs3742926 rs17099240 rs35210906 rs34572259 rs11845640 rs17099587 rs34711402 rs745389246 rs1051695 rs4647899 rs4402458 rs35977369 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13023-1; Sequence=Displayed; Name=2; IsoId=Q13023-2; Sequence=VSP_054497, VSP_054498; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Sarcoplasmic reticulum. Nucleus membrane. Note=In heart muscle. Participation of multiple targeting signals allow correct intracellular targeting. These may be repeated motifs rich in basic and hydrophobic amino acids, palmitoylated/myristoylated motifs or alternatively splice targeting sequences.


uniprotID: O95433
geneSymbol: AHSA1
pdb: 1X53;
name: Activator of 90 kDa heat shock protein ATPase homolog 1 (AHA1) (p38)
length: 338
go: ENSG00000100591;
sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; ATPase activator activity [GO:0001671]; cadherin binding [GO:0045296]; chaperone binding [GO:0051087]; Hsp90 protein binding [GO:0051879]; positive regulation of ATPase activity [GO:0032781]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95433-1; Sequence=Displayed; Name=2; IsoId=O95433-2; Sequence=VSP_055797; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:11554768}. Endoplasmic reticulum {ECO:0000269|PubMed:11554768}. Note=May transiently interact with the endoplasmic reticulum.


uniprotID: Q86UN6
geneSymbol: AKAP14
length: 197
go: ENSG00000186471;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
name:
A-kinase anchor protein 14 (AKAP-14) (A-kinase anchor protein 28 kDa) (AKAP 28) (Protein kinase A-anchoring protein 14) (PRKA14)

sequence:
MSETQNSTSQKAMDEDNKAASQTMPNTQDKNYEDELTQVALALVEDVINYAVKIVEEERNPLKNIKWMTHGEFTVEKGLKQIDEYFSKCVSKKCWAHGVEFVERKDLIHSFLYIYYVHWSISTADLPVARISAGTYFTMKVSKTKPPDAPIVVSYVGDHQALVHRPGMVRFRENWQKNLTDAKYSFMESFPFLFNRV

opentargets:
axoneme [GO:0005930]; cAMP-dependent protein kinase complex [GO:0005952]; protein kinase A regulatory subunit binding [GO:0034237]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Isoform A; IsoId=Q86UN6-1; Sequence=Displayed; Name=2; Synonyms=Isoform B; IsoId=Q86UN6-2; Sequence=VSP_009909; Name=3; Synonyms=Isoform C; IsoId=Q86UN6-3; Sequence=VSP_009910, VSP_009911; 


uniprotID: Q5EG05
geneSymbol: CARD16
length: 197
go: ENSG00000204397;
snps: rs35966314 rs1042744 rs34534919 rs542571
name:
Caspase recruitment domain-containing protein 16 (Caspase recruitment domain-only protein 1) (CARD-only protein 1) (Caspase-1 inhibitor COP) (Pseudo interleukin-1 beta converting enzyme) (Pseudo-ICE) (Pseudo-IL1B-converting enzyme)

sequence:
MADKVLKEKRKLFIHSMGEGTINGLLDELLQTRVLNQEEMEKVKRENATVMDKTRALIDSVIPKGAQACQICITYICEEDSYLAETLGLSAALQAVQDNPAMPTCSSPEGRIKLCFLEDAQRIWKQKLQRCHVQNTIIKWSERYTSGSFEMQWLFLRTNFIERFWRNILLLPLHKGSLYPRIPGLGKELQTGTHKLS

opentargets:
protease inhibitor complex [GO:0097179]; protein-containing complex [GO:0032991]; CARD domain binding [GO:0050700]; caspase binding [GO:0089720]; cysteine-type endopeptidase inhibitor activity [GO:0004869]; identical protein binding [GO:0042802]; kinase binding [GO:0019900]; cellular response to hypoxia [GO:0071456]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to UV-C [GO:0071494]; inhibition of cysteine-type endopeptidase activity [GO:0097340]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of interleukin-1 beta secretion [GO:0050713]; negative regulation of lipopolysaccharide-mediated signaling pathway [GO:0031665]; negative regulation of protein binding [GO:0032091]; negative regulation of tumor necrosis factor-mediated signaling pathway [GO:0010804]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5EG05-1; Sequence=Displayed; Name=2; IsoId=Q5EG05-2; Sequence=VSP_035216; 


uniprotID: Q8IWK6
geneSymbol: ADGRA3
name: Adhesion G protein-coupled receptor A3 (G-protein coupled receptor 125)
length: 1321
go: ENSG00000152990;
snps: rs9002 rs3814416
sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; G protein-coupled receptor activity [GO:0004930]; cell surface receptor signaling pathway [GO:0007166]; G protein-coupled receptor signaling pathway [GO:0007186]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8IWK6-1; Sequence=Displayed; Name=2; IsoId=Q8IWK6-2; Sequence=VSP_010741, VSP_010742; Note=No experimental confirmation available.; Name=3; IsoId=Q8IWK6-3; Sequence=VSP_010738, VSP_010740; Note=No experimental confirmation available.; Name=4; IsoId=Q8IWK6-4; Sequence=VSP_010743, VSP_010744, VSP_010745, VSP_010746; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:S4X0Q8}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q9H553
geneSymbol: ALG2
reactome: R-HSA-446193;R-HSA-4549349;
length: 416
go: ENSG00000119523;
snps: rs11545137 rs730882051 rs35626507
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
name:
Alpha-1,3/1,6-mannosyltransferase ALG2 (EC 2.4.1.132) (EC 2.4.1.257) (Asparagine-linked glycosylation protein 2 homolog) (GDP-Man:Man(1)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase) (GDP-Man:Man(1)GlcNAc(2)-PP-dolichol mannosyltransferase) (GDP-Man:Man(2)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; alpha-1,3-mannosyltransferase activity [GO:0000033]; calcium-dependent protein binding [GO:0048306]; GDP-Man:Man1GlcNAc2-PP-Dol alpha-1,3-mannosyltransferase activity [GO:0004378]; GDP-Man:Man2GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase activity [GO:0102704]; protein heterodimerization activity [GO:0046982]; protein N-terminus binding [GO:0047485]; dolichol-linked oligosaccharide biosynthetic process [GO:0006488]; oligosaccharide-lipid intermediate biosynthetic process [GO:0006490]; protein glycosylation in endoplasmic reticulum [GO:0033577]; response to calcium ion [GO:0051592]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H553-1; Sequence=Displayed; Name=2; IsoId=Q9H553-2; Sequence=VSP_013188, VSP_013189; 


uniprotID: O00468
geneSymbol: AGRN
length: 2068
go: ENSG00000188157;
reactome:
R-HSA-1971475;R-HSA-2022928;R-HSA-2024096;R-HSA-216083;R-HSA-3000171;R-HSA-3000178;R-HSA-3560783;R-HSA-3560801;R-HSA-3656237;R-HSA-3656253;R-HSA-419037;R-HSA-4420332;R-HSA-975634;

name:
Agrin [Cleaved into: Agrin N-terminal 110 kDa subunit; Agrin C-terminal 110 kDa subunit; Agrin C-terminal 90 kDa fragment (C90); Agrin C-terminal 22 kDa fragment (C22)]

sequence:

opentargets:
basement membrane [GO:0005604]; cell junction [GO:0030054]; collagen-containing extracellular matrix [GO:0062023]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; Golgi lumen [GO:0005796]; integral component of membrane [GO:0016021]; lysosomal lumen [GO:0043202]; plasma membrane [GO:0005886]; synapse [GO:0045202]; calcium ion binding [GO:0005509]; chondroitin sulfate binding [GO:0035374]; dystroglycan binding [GO:0002162]; extracellular matrix structural constituent [GO:0005201]; heparan sulfate proteoglycan binding [GO:0043395]; laminin binding [GO:0043236]; sialic acid binding [GO:0033691]; structural constituent of cytoskeleton [GO:0005200]; clustering of voltage-gated sodium channels [GO:0045162]; extracellular matrix organization [GO:0030198]; G protein-coupled acetylcholine receptor signaling pathway [GO:0007213]; glycosaminoglycan biosynthetic process [GO:0006024]; glycosaminoglycan catabolic process [GO:0006027]; positive regulation of filopodium assembly [GO:0051491]; positive regulation of GTPase activity [GO:0043547]; positive regulation of synaptic growth at neuromuscular junction [GO:0045887]; positive regulation of transcription by RNA polymerase II [GO:0045944]; receptor clustering [GO:0043113]; retinoid metabolic process [GO:0001523]; signal transduction [GO:0007165]; synapse organization [GO:0050808]

snps:
rs138031468 rs113288277 rs9697293 rs150132566 rs149159118 rs142416636 rs142620337 rs111818381 rs199876002 rs17160775 rs145444272 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Comment=Many isoforms may exist depending on the occurrence and length of inserts at the x, y or z splice site. Four 'z' isoforms can be produced with inserts of 0, 8, 11 or 19 AA. Isoforms differ in their acetylcholine receptor clustering activity and tissue specificity.; Name=1; Synonyms=Secreted agrin, LN-agrin; IsoId=O00468-1; Sequence=Displayed; Name=2; Synonyms=Transmembrane agrin, TM-agrin; IsoId=O00468-2; Sequence=VSP_045753, VSP_045754; Note=Produced by usage of an alternative first exon.; Name=3; Synonyms=Agrin z(0); IsoId=O00468-3; Sequence=VSP_045756; Name=4; Synonyms=Agrin z(+11); IsoId=O00468-4; Sequence=VSP_045757; Name=5; Synonyms=Agrin z(+8); IsoId=O00468-5; Sequence=VSP_045758; Name=6; Synonyms=Agrin y(0)z(0); IsoId=O00468-6; Sequence=VSP_045755, VSP_045756; Name=7; Synonyms=y(0); IsoId=O00468-7; Sequence=VSP_045755; 

location:
SUBCELLULAR LOCATION: Isoform 1: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:20551380}. Note=Synaptic basal lamina at the neuromuscular junction. {ECO:0000250|UniProtKB:P31696}.; SUBCELLULAR LOCATION: Isoform 2: Cell junction, synapse {ECO:0000250|UniProtKB:A2ASQ1}. Cell membrane {ECO:0000250|UniProtKB:A2ASQ1}; Single-pass type II membrane protein {ECO:0000250|UniProtKB:A2ASQ1}.


uniprotID: Q9H161
geneSymbol: ALX4
pdb: 2M0C;
name: Homeobox protein aristaless-like 4
length: 411
go: ENSG00000052850;
snps: rs281865153 rs3824915 rs12421995 rs281865154 rs104894193 rs3824915 rs104894196 rs149897209
sequence:

opentargets:
nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA binding [GO:0003677]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; HMG box domain binding [GO:0071837]; protein heterodimerization activity [GO:0046982]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; anterior/posterior pattern specification [GO:0009952]; digestive tract development [GO:0048565]; embryonic digit morphogenesis [GO:0042733]; embryonic forelimb morphogenesis [GO:0035115]; embryonic hindlimb morphogenesis [GO:0035116]; embryonic skeletal system morphogenesis [GO:0048704]; hair follicle development [GO:0001942]; muscle organ development [GO:0007517]; post-embryonic development [GO:0009791]; regulation of apoptotic process [GO:0042981]; roof of mouth development [GO:0060021]; skeletal system development [GO:0001501]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000255|PROSITE-ProRule:PRU00138, ECO:0000269|PubMed:19692347}.


uniprotID: Q5XLA6
geneSymbol: CARD17
length: 110
go: ENSG00000255221;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Caspase recruitment domain-containing protein 17 (Caspase-1 inhibitor INCA) (Inhibitory caspase recruitment domain protein)

sequence:
MADKVLKEKRKQFIRSVGEGTINGLLGELLETRVLSQEEIEIVKCENATVMDKARALLDSVIRKGAPACQICITYICEEDSHLAGTLGLSAGPTSGNHLTTQDSQIVLPS

opentargets:
cytoplasm [GO:0005737]; protein-containing complex [GO:0032991]; caspase binding [GO:0089720]; cysteine-type endopeptidase inhibitor activity [GO:0004869]; identical protein binding [GO:0042802]; cellular response to lipopolysaccharide [GO:0071222]; negative regulation of interleukin-1 beta secretion [GO:0050713]; regulation of apoptotic process [GO:0042981]


uniprotID: Q5JTC6
geneSymbol: AMER1
pdb: 4YJE;4YJL;4YK6;
length: 1135
go: ENSG00000184675;
snps: rs34677493 rs376626895 rs35718712 rs138948924
reactome:
R-HSA-195253;R-HSA-196299;R-HSA-4641262;R-HSA-5339716;R-HSA-5358747;R-HSA-5358749;R-HSA-5358751;R-HSA-5358752;R-HSA-5467337;R-HSA-5467340;R-HSA-5467348;

name:
APC membrane recruitment protein 1 (Amer1) (Protein FAM123B) (Wilms tumor gene on the X chromosome protein)

sequence:

opentargets:
cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; nuclear body [GO:0016604]; plasma membrane [GO:0005886]; beta-catenin binding [GO:0008013]; beta-catenin destruction complex binding [GO:1904713]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; adipose tissue development [GO:0060612]; beta-catenin destruction complex assembly [GO:1904885]; beta-catenin destruction complex disassembly [GO:1904886]; bone development [GO:0060348]; mesenchymal cell differentiation involved in kidney development [GO:0072161]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of cellular protein catabolic process [GO:1903364]; positive regulation of protein ubiquitination [GO:0031398]; regulation of canonical Wnt signaling pathway [GO:0060828]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Amer1-S1; IsoId=Q5JTC6-1; Sequence=Displayed; Name=2; Synonyms=Amer1-S2, Short; IsoId=Q5JTC6-2; Sequence=VSP_024091, VSP_024092; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Nucleus. Note=Shuttles between nucleus and cytoplasm. Detected in nuclear paraspeckles that are found close to splicing speckles. Translocates to the cell membrane following binding to PtdIns(4,5)P2.


uniprotID: Q8TD06
geneSymbol: AGR3
pdb: 3PH9;
length: 166
go: ENSG00000173467;
name:
Anterior gradient protein 3 (AG-3) (AG3) (hAG-3) (Anterior gradient 3 homolog) (Breast cancer membrane protein 11) (Protein disulfide isomerase family A, member 18)

sequence:
MMLHSALGLCLLLVTVSSNLAIAIKKEKRPPQTLSRGWGDDITWVQTYEEGLFYAQKSKKPLMVIHHLEDCQYSQALKKVFAQNEEIQEMAQNKFIMLNLMHETTDKNLSPDGQYVPRIMFVDPSLTVRADIAGRYSNRLYTYEPRDLPLLIENMKKALRLIQSEL

opentargets:
endoplasmic reticulum [GO:0005783]; intracellular membrane-bounded organelle [GO:0043231]; dystroglycan binding [GO:0002162]; negative regulation of cell death [GO:0060548]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000269|PubMed:18086916, ECO:0000269|PubMed:25751668}. Note=Found in the cytoplasm, which could include the endoplasmic reticulum. {ECO:0000305|PubMed:26170690}.


uniprotID: Q96IZ2
geneSymbol: ADTRP
name: Androgen-dependent TFPI-regulating protein
length: 230
go: ENSG00000111863;
snps: rs2076185
sequence:

opentargets:
caveola [GO:0005901]; cell surface [GO:0009986]; endomembrane system [GO:0012505]; integral component of membrane [GO:0016021]; intracellular [GO:0005622]; membrane [GO:0016020]; hydrolase activity [GO:0016787]; cell migration involved in sprouting angiogenesis [GO:0002042]; cellular response to oxidised low-density lipoprotein particle stimulus [GO:0140052]; cellular response to steroid hormone stimulus [GO:0071383]; long-chain fatty acid catabolic process [GO:0042758]; negative regulation of blood coagulation [GO:0030195]; negative regulation of extracellular matrix constituent secretion [GO:0003332]; negative regulation of leukocyte cell-cell adhesion [GO:1903038]; negative regulation of leukocyte migration [GO:0002686]; negative regulation of lymphocyte migration [GO:2000402]; negative regulation of protein secretion [GO:0050709]; positive regulation of gene expression [GO:0010628]; positive regulation of protein phosphorylation [GO:0001934]; protein kinase B signaling [GO:0043491]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96IZ2-1; Sequence=Displayed; Name=2; IsoId=Q96IZ2-2; Sequence=VSP_041965; Name=3; IsoId=Q96IZ2-3; Sequence=VSP_042868; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21868574}; Multi-pass membrane protein {ECO:0000269|PubMed:21868574}. Note=Colocalized with TFPI and CAV1 in lipid rafts.


uniprotID: Q86SQ4
geneSymbol: ADGRG6
length: 1221
go: ENSG00000112414;
snps: rs17280293 rs11155242 rs793888525 rs536714306 rs1262686
name:
Adhesion G-protein coupled receptor G6 (Developmentally regulated G-protein-coupled receptor) (G-protein coupled receptor 126) (Vascular inducible G protein-coupled receptor) [Cleaved into: ADGRG6 N-terminal fragment (ADGRG6-NTF); ADGRG6 C-terminal fragment (ADGRG6-CTF)]

sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; collagen binding [GO:0005518]; extracellular matrix binding [GO:0050840]; G protein-coupled receptor activity [GO:0004930]; laminin binding [GO:0043236]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; cAMP-mediated signaling [GO:0019933]; cell surface receptor signaling pathway [GO:0007166]; G protein-coupled receptor signaling pathway [GO:0007186]; heart trabecula formation [GO:0060347]; mitochondrion organization [GO:0007005]; myelination [GO:0042552]; myelination in peripheral nervous system [GO:0022011]; Schwann cell differentiation [GO:0014037]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q86SQ4-1; Sequence=Displayed; Name=2; IsoId=Q86SQ4-2; Sequence=VSP_010747; Name=3; IsoId=Q86SQ4-3; Sequence=VSP_010748; Name=4; IsoId=Q86SQ4-4; Sequence=VSP_010747, VSP_010748; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15189448, ECO:0000269|PubMed:15225624, ECO:0000269|PubMed:24227709}; Multi-pass membrane protein {ECO:0000255}. Note=Detected on the cell surface of activated but not resting umbilical vein. {ECO:0000269|PubMed:15225624}.


uniprotID: P14550
geneSymbol: AKR1A1
reactome: R-HSA-156590;R-HSA-5661270;
pdb: 2ALR;
length: 325
go: ENSG00000117448;
drug: DB03461;DB00997;DB00898;DB00157;DB02383;
snps: rs2229540 rs6690497
name:
Alcohol dehydrogenase [NADP(+)] (EC 1.1.1.2) (Aldehyde reductase) (Aldo-keto reductase family 1 member A1)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; synapse [GO:0045202]; alcohol dehydrogenase (NADP+) activity [GO:0008106]; alditol:NADP+ 1-oxidoreductase activity [GO:0004032]; aldo-keto reductase (NADP) activity [GO:0004033]; electron transfer activity [GO:0009055]; L-glucuronate reductase activity [GO:0047939]; oxidoreductase activity [GO:0016491]; aldehyde catabolic process [GO:0046185]; cellular aldehyde metabolic process [GO:0006081]; D-glucuronate catabolic process [GO:0042840]; glucose metabolic process [GO:0006006]; glucuronate catabolic process to xylulose 5-phosphate [GO:0019640]; glutathione derivative biosynthetic process [GO:1901687]; L-ascorbic acid biosynthetic process [GO:0019853]


uniprotID: P30038
geneSymbol: ALDH4A1
reactome: R-HSA-389661;R-HSA-70688;
pdb: 3V9G;3V9H;3V9I;4OE5;
length: 563
go: ENSG00000159423;
drug: DB00157;
snps: rs146450609 rs137852937 rs2230709 rs6695033
location: SUBCELLULAR LOCATION: Mitochondrion matrix.
name:
Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial (P5C dehydrogenase) (EC 1.2.1.88) (Aldehyde dehydrogenase family 4 member A1) (L-glutamate gamma-semialdehyde dehydrogenase)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; 1-pyrroline-5-carboxylate dehydrogenase activity [GO:0003842]; aldehyde dehydrogenase (NAD) activity [GO:0004029]; electron transfer activity [GO:0009055]; identical protein binding [GO:0042802]; 4-hydroxyproline catabolic process [GO:0019470]; glyoxylate metabolic process [GO:0046487]; proline catabolic process [GO:0006562]; proline catabolic process to glutamate [GO:0010133]; proline metabolic process [GO:0006560]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P30038-1; Sequence=Displayed; Name=2; IsoId=P30038-2; Sequence=VSP_043785; Name=3; IsoId=P30038-3; Sequence=VSP_047732; 


uniprotID: Q8IZ07
geneSymbol: ANKRD13A
name: Ankyrin repeat domain-containing protein 13A (Protein KE03)
length: 590
go: ENSG00000076513;
opentargets: late endosome [GO:0005770]; plasma membrane [GO:0005886]
snps: rs2287174
sequence:

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22298428}. Late endosome {ECO:0000269|PubMed:22298428}. Note=Interaction with EGFR may enhance association with the cell membrane.


uniprotID: P08319
geneSymbol: ADH4
reactome: R-HSA-5365859;R-HSA-71384;
pdb: 3COS;
name: Alcohol dehydrogenase 4 (EC 1.1.1.1) (Alcohol dehydrogenase class II pi chain)
length: 380
go: ENSG00000198099;
drug: DB03559;DB00898;DB00157;
snps: rs1126671 rs29001219 rs1126673
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; alcohol dehydrogenase (NAD) activity [GO:0004022]; alcohol dehydrogenase activity, zinc-dependent [GO:0004024]; alditol:NADP+ 1-oxidoreductase activity [GO:0004032]; all-trans retinal binding [GO:0005503]; benzaldehyde dehydrogenase activity [GO:0019115]; ethanol binding [GO:0035276]; NAD binding [GO:0051287]; NADPH:quinone reductase activity [GO:0003960]; oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor [GO:0016620]; retinol binding [GO:0019841]; retinol dehydrogenase activity [GO:0004745]; zinc ion binding [GO:0008270]; alcohol catabolic process [GO:0046164]; alcohol metabolic process [GO:0006066]; cellular aldehyde metabolic process [GO:0006081]; ethanol oxidation [GO:0006069]; quinone metabolic process [GO:1901661]; retinoid metabolic process [GO:0001523]; retinol metabolic process [GO:0042572]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P08319-1; Sequence=Displayed; Name=2; IsoId=P08319-2; Sequence=VSP_036788; 


uniprotID: O14862
geneSymbol: AIM2
reactome: R-HSA-844615;
pdb: 3RN2;3RN5;3VD8;4O7Q;6MB2;
name: Interferon-inducible protein AIM2 (Absent in melanoma 2)
length: 343
go: ENSG00000163568;
snps: rs2276405 rs778047649
sequence:

opentargets:
AIM2 inflammasome complex [GO:0097169]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; double-stranded DNA binding [GO:0003690]; identical protein binding [GO:0042802]; activation of innate immune response [GO:0002218]; apoptotic process [GO:0006915]; cellular response to drug [GO:0035690]; cellular response to interferon-beta [GO:0035458]; immune response [GO:0006955]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; interleukin-1 beta secretion [GO:0050702]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; positive regulation of cysteine-type endopeptidase activity [GO:2001056]; positive regulation of defense response to virus by host [GO:0002230]; positive regulation of interleukin-1 beta production [GO:0032731]; positive regulation of interleukin-1 beta secretion [GO:0050718]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of protein oligomerization [GO:0032461]; pyroptosis [GO:0070269]; tumor necrosis factor-mediated signaling pathway [GO:0033209]

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Activated inflammasomes can aggregate in the cytosol as speck-like particles.


uniprotID: Q9NRN7
geneSymbol: AASDHPPT
reactome: R-HSA-199220;
pdb: 2BYD;2C43;2CG5;
length: 309
go: ENSG00000149313;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12815048}.
name:
L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase (EC 2.7.8.-) (4'-phosphopantetheinyl transferase) (Alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase) (AASD-PPT) (LYS5 ortholog)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; holo-[acyl-carrier-protein] synthase activity [GO:0008897]; magnesium ion binding [GO:0000287]; lysine biosynthetic process via aminoadipic acid [GO:0019878]; pantothenate metabolic process [GO:0015939]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NRN7-1; Sequence=Displayed; Name=2; IsoId=Q9NRN7-2; Sequence=VSP_055783, VSP_055784; Note=No experimental confirmation available.; 


uniprotID: P30838
geneSymbol: ALDH3A1
reactome: R-HSA-211945;
pdb: 3SZA;3SZB;4H80;4L1O;4L2O;
length: 453
go: ENSG00000108602;
drug: DB00157;
snps: rs887241 rs3744692 rs2228100
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P47739}.
name:
Aldehyde dehydrogenase, dimeric NADP-preferring (EC 1.2.1.5) (ALDHIII) (Aldehyde dehydrogenase 3) (Aldehyde dehydrogenase family 3 member A1)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; 3-chloroallyl aldehyde dehydrogenase activity [GO:0004028]; alcohol dehydrogenase (NADP+) activity [GO:0008106]; aldehyde dehydrogenase (NAD) activity [GO:0004029]; aldehyde dehydrogenase [NAD(P)+] activity [GO:0004030]; benzaldehyde dehydrogenase (NAD+) activity [GO:0018479]; cellular aldehyde metabolic process [GO:0006081]; oxidation-reduction process [GO:0055114]; xenobiotic metabolic process [GO:0006805]


uniprotID: Q9UL18
geneSymbol: AGO1
pdb: 1SI2;1SI3;4KRE;4KRF;4KXT;5W6V;
length: 857
go: ENSG00000092847;
location: SUBCELLULAR LOCATION: Cytoplasm, P-body {ECO:0000269|PubMed:16289642, ECO:0000269|PubMed:20616046}.
reactome:
R-HSA-1912408;R-HSA-203927;R-HSA-2559580;R-HSA-2559585;R-HSA-4086398;R-HSA-426486;R-HSA-426496;R-HSA-5578749;R-HSA-5628897;R-HSA-5687128;R-HSA-8934593;R-HSA-8936459;R-HSA-8943723;R-HSA-8948700;R-HSA-9018519;

name:
Protein argonaute-1 (Argonaute1) (hAgo1) (Argonaute RISC catalytic component 1) (Eukaryotic translation initiation factor 2C 1) (eIF-2C 1) (eIF2C 1) (Putative RNA-binding protein Q99)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; micro-ribonucleoprotein complex [GO:0035068]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; P-body [GO:0000932]; polysome [GO:0005844]; ribonucleoprotein complex [GO:1990904]; RISC complex [GO:0016442]; RISC-loading complex [GO:0070578]; core promoter binding [GO:0001047]; double-stranded RNA binding [GO:0003725]; miRNA binding [GO:0035198]; RNA binding [GO:0003723]; RNA polymerase II complex binding [GO:0000993]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; single-stranded RNA binding [GO:0003727]; miRNA loading onto RISC involved in gene silencing by miRNA [GO:0035280]; miRNA mediated inhibition of translation [GO:0035278]; miRNA metabolic process [GO:0010586]; negative regulation of angiogenesis [GO:0016525]; negative regulation of gene expression [GO:0010629]; nuclear-transcribed mRNA catabolic process [GO:0000956]; positive regulation of gene expression [GO:0010628]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; positive regulation of transcription by RNA polymerase II [GO:0045944]; posttranscriptional gene silencing by RNA [GO:0035194]; pre-miRNA processing [GO:0031054]; production of miRNAs involved in gene silencing by miRNA [GO:0035196]; regulation of gene silencing by miRNA [GO:0060964]; regulation of megakaryocyte differentiation [GO:0045652]; RNA phosphodiester bond hydrolysis, endonucleolytic [GO:0090502]; RNA secondary structure unwinding [GO:0010501]; Wnt signaling pathway, calcium modulating pathway [GO:0007223]


uniprotID: Q99218
geneSymbol: AMELY
name: Amelogenin, Y isoform
length: 206
go: ENSG00000099721;
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; structural constituent of tooth enamel [GO:0030345]; biomineral tissue development [GO:0031214]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2; IsoId=Q99218-2; Sequence=Displayed; Name=1; IsoId=Q99218-1; Sequence=VSP_017077; 


uniprotID: P54707
geneSymbol: ATP12A
reactome: R-HSA-936837;
length: 1039
go: ENSG00000075673;
snps: rs2289909
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Potassium-transporting ATPase alpha chain 2 (EC 3.6.3.10) (Non-gastric H(+)/K(+) ATPase subunit alpha) (Proton pump)

sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; plasma membrane [GO:0005886]; potassium:proton exchanging ATPase complex [GO:0005889]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; potassium:proton exchanging ATPase activity [GO:0008900]; sodium:potassium-exchanging ATPase activity [GO:0005391]; ATP hydrolysis coupled proton transport [GO:0015991]; cellular potassium ion homeostasis [GO:0030007]; cellular sodium ion homeostasis [GO:0006883]; potassium ion import [GO:0010107]; regulation of pH [GO:0006885]; sodium ion export across plasma membrane [GO:0036376]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P54707-1; Sequence=Displayed; Name=2; IsoId=P54707-2; Sequence=VSP_034640; Note=No experimental confirmation available.; 


uniprotID: P82987
geneSymbol: ADAMTSL3
reactome: R-HSA-5083635;R-HSA-5173214;
name: ADAMTS-like protein 3 (ADAMTSL-3) (Punctin-2)
length: 1691
go: ENSG00000156218;
sequence:

opentargets:
extracellular region [GO:0005576]; intracellular membrane-bounded organelle [GO:0043231]; peptidase activity [GO:0008233]

snps:
rs4483821 rs4144691 rs142860011 rs4842838 rs34047645 rs146769560 rs2277848 rs2277849 rs17158450 rs7175910 rs950169 rs11857906 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P82987-1; Sequence=Displayed; Name=2; IsoId=P82987-2; Sequence=VSP_037810; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:14667842}.


uniprotID: Q16878
geneSymbol: CDO1
reactome: R-HSA-1614558;
pdb: 2IC1;6BGF;6BGM;6BPS;6BPT;6BPU;6BPV;6BPW;6BPX;6CDH;6CDN;
name: Cysteine dioxygenase type 1 (EC 1.13.11.20) (Cysteine dioxygenase type I) (CDO) (CDO-I)
length: 200
go: ENSG00000129596;
drug: DB00151;DB00157;
snps: rs1042867
sequence:

opentargets:
cytosol [GO:0005829]; cysteine dioxygenase activity [GO:0017172]; ferrous iron binding [GO:0008198]; cysteine metabolic process [GO:0006534]; inflammatory response [GO:0006954]; L-cysteine catabolic process [GO:0019448]; lactation [GO:0007595]; oxidation-reduction process [GO:0055114]; response to amino acid [GO:0043200]; response to cAMP [GO:0051591]; response to ethanol [GO:0045471]; response to glucagon [GO:0033762]; response to glucocorticoid [GO:0051384]; sulfur amino acid biosynthetic process [GO:0000097]; taurine biosynthetic process [GO:0042412]


uniprotID: P51861
geneSymbol: CDR1
name: Cerebellar degeneration-related antigen 1 (CDR34)
length: 262
go: ENSG00000184258;
sequence:


uniprotID: O95170
geneSymbol: CDRT1
name: CMT1A duplicated region transcript 1 protein
length: 752
go: ENSG00000241322;
snps: rs8078150
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95170-1; Sequence=Displayed; Name=2; IsoId=O95170-2; Sequence=VSP_040554; 


uniprotID: O14627
geneSymbol: CDX4
name: Homeobox protein CDX-4 (Caudal-type homeobox protein 4)
length: 284
go: ENSG00000131264;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; anterior/posterior pattern specification [GO:0009952]; blood vessel development [GO:0001568]; cell differentiation [GO:0030154]; labyrinthine layer development [GO:0060711]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: P40198
geneSymbol: CEACAM3
reactome: R-HSA-202733;R-HSA-6798695;
pdb: 6AVZ;6AW0;6AW1;6AW3;
length: 252
go: ENSG00000170956;
snps: rs1041999
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Carcinoembryonic antigen-related cell adhesion molecule 3 (Carcinoembryonic antigen CGM1) (CD antigen CD66d)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; leukocyte migration [GO:0050900]; neutrophil degranulation [GO:0043312]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=CGM1A; IsoId=P40198-1; Sequence=Displayed; Name=2; Synonyms=CGM1B; IsoId=P40198-2; Sequence=VSP_002486; Name=3; Synonyms=CGM1C; IsoId=P40198-3; Sequence=VSP_002487; 


uniprotID: P06731
geneSymbol: CEACAM5
reactome: R-HSA-163125;R-HSA-202733;
pdb: 1E07;2QSQ;2QST;2VER;
length: 702
snps: rs12971352 rs28683503 rs3815780 rs10407503 rs7249230 rs10423171 rs9621
name:
Carcinoembryonic antigen-related cell adhesion molecule 5 (Carcinoembryonic antigen) (CEA) (Meconium antigen 100) (CD antigen CD66e)

sequence:

opentargets:
anchored component of membrane [GO:0031225]; apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; cell surface [GO:0009986]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; integral component of external side of plasma membrane [GO:0071575]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; GPI anchor binding [GO:0034235]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; apoptotic process [GO:0006915]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; homotypic cell-cell adhesion [GO:0034109]; leukocyte migration [GO:0050900]; negative regulation of anoikis [GO:2000811]; negative regulation of apoptotic process [GO:0043066]; negative regulation of myotube differentiation [GO:0010832]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P06731-1; Sequence=Displayed; Name=2; IsoId=P06731-2; Sequence=VSP_053414; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10864933, ECO:0000269|PubMed:18086185, ECO:0000269|PubMed:2317824}; Lipid-anchor, GPI-anchor {ECO:0000269|PubMed:10864933, ECO:0000269|PubMed:18086185, ECO:0000269|PubMed:2317824}. Apical cell membrane {ECO:0000269|PubMed:10436421}. Cell surface {ECO:0000269|PubMed:2317824, ECO:0000269|PubMed:2803308}. Note=Localized to the apical glycocalyx surface. {ECO:0000269|PubMed:10436421}.


uniprotID: P31997
geneSymbol: CEACAM8
reactome: R-HSA-1566977;R-HSA-202733;R-HSA-6798695;
pdb: 2DKS;4WTZ;4Y88;4YIQ;
length: 349
go: ENSG00000124469;
snps: rs28367882 rs35221575 rs1041997 rs1126458 rs8103051
name:
Carcinoembryonic antigen-related cell adhesion molecule 8 (CD67 antigen) (Carcinoembryonic antigen CGM6) (Non-specific cross-reacting antigen NCA-95) (CD antigen CD66b)

sequence:

opentargets:
anchored component of membrane [GO:0031225]; azurophil granule membrane [GO:0035577]; cell surface [GO:0009986]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; tertiary granule membrane [GO:0070821]; protein heterodimerization activity [GO:0046982]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; immune response [GO:0006955]; leukocyte migration [GO:0050900]; neutrophil degranulation [GO:0043312]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:2208113}; Lipid-anchor, GPI-anchor {ECO:0000269|PubMed:2208113}. Cell surface {ECO:0000269|PubMed:8776764}.


uniprotID: P0C854
geneSymbol: CECR9
name: Putative cat eye syndrome critical region protein 9
length: 216
opentargets: extracellular region [GO:0005576]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:


uniprotID: P08217
geneSymbol: CELA2A
reactome: R-HSA-6809371;
name: Chymotrypsin-like elastase family member 2A (EC 3.4.21.71) (Elastase-2A)
length: 269
go: ENSG00000142615;
drug: DB06901;
snps: rs2303193
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; keratohyalin granule [GO:0036457]; endopeptidase activity [GO:0004175]; serine hydrolase activity [GO:0017171]; serine-type endopeptidase activity [GO:0004252]; cornification [GO:0070268]; proteolysis [GO:0006508]


uniprotID: Q9UNI1
geneSymbol: CELA1
name: Chymotrypsin-like elastase family member 1 (EC 3.4.21.36) (Elastase-1) (Pancreatic elastase 1)
length: 258
go: ENSG00000139610;
drug: DB07955;DB08007;DB06951;DB03757;DB07433;DB07956;DB01844;DB07957;DB03890;DB03925;DB02114;
snps: rs17860287 rs17860299 rs17860300 rs17860364
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular space [GO:0005615]; metal ion binding [GO:0046872]; serine-type endopeptidase activity [GO:0004252]; elastin catabolic process [GO:0060309]; exocrine pancreas development [GO:0031017]; inflammatory response [GO:0006954]; multicellular organism growth [GO:0035264]; negative regulation of transcription by RNA polymerase II [GO:0000122]; pancreas morphogenesis [GO:0061113]; positive regulation of angiogenesis [GO:0045766]; positive regulation of transcription by RNA polymerase II [GO:0045944]; post-embryonic development [GO:0009791]; proteolysis [GO:0006508]; regulation of cell differentiation [GO:0045595]; regulation of cell proliferation [GO:0042127]; tissue remodeling [GO:0048771]; Wnt signaling pathway [GO:0016055]


uniprotID: Q9HCU4
geneSymbol: CELSR2
length: 2923
go: ENSG00000143126;
snps: rs12083590 rs653635 rs12567377 rs17035649
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Cadherin EGF LAG seven-pass G-type receptor 2 (Cadherin family member 10) (Epidermal growth factor-like protein 2) (EGF-like protein 2) (Flamingo homolog 3) (Multiple epidermal growth factor-like domains protein 3) (Multiple EGF-like domains protein 3)

sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; G protein-coupled receptor activity [GO:0004930]; dendrite morphogenesis [GO:0048813]; G protein-coupled receptor signaling pathway [GO:0007186]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; neural plate anterior/posterior regionalization [GO:0021999]; regulation of cell-cell adhesion [GO:0022407]; regulation of transcription, DNA-templated [GO:0006355]; Wnt signaling pathway [GO:0016055]; Wnt signaling pathway, planar cell polarity pathway [GO:0060071]


uniprotID: P19835
geneSymbol: CEL
reactome: R-HSA-192456;
pdb: 1F6W;1JMY;
length: 753
drug: DB04348;
location: SUBCELLULAR LOCATION: Secreted.
name:
Bile salt-activated lipase (BAL) (EC 3.1.1.13) (EC 3.1.1.3) (Bile salt-stimulated lipase) (BSSL) (Bucelipase) (Carboxyl ester lipase) (Cholesterol esterase) (Pancreatic lysophospholipase) (Sterol esterase)

sequence:

opentargets:
cell surface [GO:0009986]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; presynapse [GO:0098793]; synapse [GO:0045202]; acylglycerol lipase activity [GO:0047372]; catalytic activity [GO:0003824]; heparin binding [GO:0008201]; hydrolase activity [GO:0016787]; neurexin family protein binding [GO:0042043]; signaling receptor activity [GO:0038023]; sterol esterase activity [GO:0004771]; triglyceride lipase activity [GO:0004806]; cholesterol catabolic process [GO:0006707]; fatty acid catabolic process [GO:0009062]; intestinal cholesterol absorption [GO:0030299]; intestinal lipid catabolic process [GO:0044258]; lipid digestion [GO:0044241]; lipid metabolic process [GO:0006629]; modulation of chemical synaptic transmission [GO:0050804]; neuron cell-cell adhesion [GO:0007158]; pancreatic juice secretion [GO:0030157]; postsynaptic membrane assembly [GO:0097104]; presynaptic membrane assembly [GO:0097105]; protein esterification [GO:0018350]; synaptic vesicle endocytosis [GO:0048488]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=P19835-1; Sequence=Displayed; Name=Short; IsoId=P19835-2; Sequence=VSP_001463; 


uniprotID: Q8N5M1
geneSymbol: ATPAF2
name: ATP synthase mitochondrial F1 complex assembly factor 2 (ATP12 homolog)
length: 289
go: ENSG00000171953;
snps: rs104894554
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
sequence:

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; nuclear speck [GO:0016607]; proton-transporting ATP synthase complex assembly [GO:0043461]


uniprotID: Q86WG3
geneSymbol: ATCAY
name: Caytaxin (Ataxia cayman type protein) (BNIP-2-homology) (BNIP-H)
length: 371
go: ENSG00000167654;
sequence:

opentargets:
axon [GO:0030424]; cell junction [GO:0030054]; cytoplasm [GO:0005737]; dendrite [GO:0030425]; mitochondrial membrane [GO:0031966]; neuron projection [GO:0043005]; synapse [GO:0045202]; exopolyphosphatase activity [GO:0004309]; kinesin binding [GO:0019894]; WW domain binding [GO:0050699]; apoptotic process [GO:0006915]; mitochondrion distribution [GO:0048311]; negative regulation of glutamate metabolic process [GO:2000212]; neuron projection development [GO:0031175]; polyphosphate catabolic process [GO:0006798]; regulation of protein localization [GO:0032880]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86WG3-1; Sequence=Displayed; Name=2; IsoId=Q86WG3-3; Sequence=VSP_008748; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell projection, axon {ECO:0000250}. Cell projection, dendrite {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Cytoplasm {ECO:0000269|PubMed:16899818}. Mitochondrion envelope {ECO:0000269|PubMed:16899818}. Note=Localizes presynaptically into neuron projections.


uniprotID: Q8IZL9
geneSymbol: CDK20
length: 346
go: ENSG00000156345;
snps: rs28364953 rs41286029 rs28364955 rs28364963
name:
Cyclin-dependent kinase 20 (EC 2.7.11.22) (CDK-activating kinase p42) (CAK-kinase p42) (Cell cycle-related kinase) (Cell division protein kinase 20) (Cyclin-dependent protein kinase H) (Cyclin-kinase-activating kinase p42)

sequence:

opentargets:
cilium [GO:0005929]; cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; cyclin-dependent protein serine/threonine kinase activity [GO:0004693]; cell cycle [GO:0007049]; cell division [GO:0051301]; multicellular organism development [GO:0007275]; protein phosphorylation [GO:0006468]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8IZL9-1; Sequence=Displayed; Name=2; Synonyms=Cardiac CCRK; IsoId=Q8IZL9-2; Sequence=VSP_016748, VSP_016750; Name=3; IsoId=Q8IZL9-3; Sequence=VSP_016749, VSP_016751, VSP_016752; Note=No experimental confirmation available.; Name=4; IsoId=Q8IZL9-4; Sequence=VSP_043294, VSP_016749; Note=No experimental confirmation available.; Name=5; IsoId=Q8IZL9-5; Sequence=VSP_016749; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14597612}. Cytoplasm {ECO:0000250}. Cell projection, cilium {ECO:0000250}.


uniprotID: Q9Y6H3
geneSymbol: ATP23
length: 246
go: ENSG00000166896;
snps: rs3751325
name:
Mitochondrial inner membrane protease ATP23 homolog (EC 3.4.24.-) (Ku70-binding protein 3) (XRCC6-binding protein 1)

sequence:

opentargets:
cell junction [GO:0030054]; cytosol [GO:0005829]; DNA-dependent protein kinase-DNA ligase 4 complex [GO:0005958]; intracellular membrane-bounded organelle [GO:0043231]; plasma membrane [GO:0005886]; DNA-dependent protein kinase activity [GO:0004677]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; double-strand break repair via nonhomologous end joining [GO:0006303]


uniprotID: Q96SQ7
geneSymbol: ATOH8
length: 321
go: ENSG00000168874;
snps: rs17851881
name:
Protein atonal homolog 8 (Class A basic helix-loop-helix protein 21) (bHLHa21) (Helix-loop-helix protein hATH-6) (hATH6)

sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; activating transcription factor binding [GO:0033613]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; E-box binding [GO:0070888]; protein dimerization activity [GO:0046983]; cell differentiation [GO:0030154]; formation of primary germ layer [GO:0001704]; myoblast proliferation [GO:0051450]; negative regulation of endothelial cell proliferation [GO:0001937]; negative regulation of gene expression [GO:0010629]; negative regulation of transcription, DNA-templated [GO:0045892]; nervous system development [GO:0007399]; positive regulation of endothelial cell differentiation [GO:0045603]; positive regulation of endothelial cell migration [GO:0010595]; positive regulation of gene expression [GO:0010628]; positive regulation of transcription, DNA-templated [GO:0045893]; SMAD protein signal transduction [GO:0060395]; tube formation [GO:0035148]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96SQ7-1; Sequence=Displayed; Name=2; IsoId=Q96SQ7-2; Sequence=VSP_032118; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24463812}. Nucleus speckle {ECO:0000269|PubMed:24463812}. Cytoplasm {ECO:0000250|UniProtKB:Q99NA2}.


uniprotID: P50993
geneSymbol: ATP1A2
reactome: R-HSA-5578775;R-HSA-936837;
length: 1020
go: ENSG00000018625;
drug: DB09479;
snps: rs1057518514 rs28934002 rs886039530 rs28933401 rs28933400 rs28933398 rs28933399
name:
Sodium/potassium-transporting ATPase subunit alpha-2 (Na(+)/K(+) ATPase alpha-2 subunit) (EC 3.6.3.9) (Sodium pump subunit alpha-2)

sequence:

opentargets:
caveola [GO:0005901]; cytoplasm [GO:0005737]; dendritic spine [GO:0043197]; endosome [GO:0005768]; extracellular vesicle [GO:1903561]; intercalated disc [GO:0014704]; membrane [GO:0016020]; myelin sheath [GO:0043209]; plasma membrane [GO:0005886]; sodium:potassium-exchanging ATPase complex [GO:0005890]; T-tubule [GO:0030315]; ATP binding [GO:0005524]; chaperone binding [GO:0051087]; metal ion binding [GO:0046872]; sodium:potassium-exchanging ATPase activity [GO:0005391]; steroid hormone binding [GO:1990239]; adult locomotory behavior [GO:0008344]; ATP hydrolysis coupled proton transport [GO:0015991]; ATP metabolic process [GO:0046034]; cardiac muscle contraction [GO:0060048]; cell communication by electrical coupling involved in cardiac conduction [GO:0086064]; cellular potassium ion homeostasis [GO:0030007]; cellular response to mechanical stimulus [GO:0071260]; cellular response to steroid hormone stimulus [GO:0071383]; cellular sodium ion homeostasis [GO:0006883]; locomotion [GO:0040011]; membrane depolarization during cardiac muscle cell action potential [GO:0086012]; membrane repolarization [GO:0086009]; negative regulation of calcium ion transmembrane transport [GO:1903170]; negative regulation of calcium:sodium antiporter activity [GO:1903280]; negative regulation of cytosolic calcium ion concentration [GO:0051481]; negative regulation of heart contraction [GO:0045822]; negative regulation of striated muscle contraction [GO:0045988]; neurotransmitter uptake [GO:0001504]; potassium ion import [GO:0010107]; potassium ion import across plasma membrane [GO:1990573]; potassium ion transport [GO:0006813]; regulation of blood pressure [GO:0008217]; regulation of cardiac muscle cell contraction [GO:0086004]; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion [GO:0010881]; regulation of glutamate uptake involved in transmission of nerve impulse [GO:0051946]; regulation of respiratory gaseous exchange by neurological system process [GO:0002087]; regulation of smooth muscle contraction [GO:0006940]; regulation of striated muscle contraction [GO:0006942]; regulation of synaptic transmission, glutamatergic [GO:0051966]; regulation of the force of heart contraction [GO:0002026]; regulation of vasoconstriction [GO:0019229]; relaxation of cardiac muscle [GO:0055119]; response to glycoside [GO:1903416]; response to nicotine [GO:0035094]; sodium ion export across plasma membrane [GO:0036376]; sodium ion transport [GO:0006814]; visual learning [GO:0008542]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:7711835}; Multi-pass membrane protein {ECO:0000269|PubMed:7711835}. Cell membrane {ECO:0000269|PubMed:7711835}; Multi-pass membrane protein {ECO:0000269|PubMed:7711835}.


uniprotID: Q8NHH9
geneSymbol: ATL2
length: 583
go: ENSG00000119787;
snps: rs3731847 rs34873284 rs7582826
name:
Atlastin-2 (EC 3.6.5.-) (ADP-ribosylation factor-like protein 6-interacting protein 2) (ARL-6-interacting protein 2) (Aip-2)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; 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]; endoplasmic reticulum tubular network membrane organization [GO:1990809]; Golgi organization [GO:0007030]; protein homooligomerization [GO:0051260]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=AT2b; IsoId=Q8NHH9-1; Sequence=Displayed; Name=2; Synonyms=AT2a; IsoId=Q8NHH9-2; Sequence=VSP_025310; Name=3; IsoId=Q8NHH9-3; Sequence=VSP_025309; Name=4; IsoId=Q8NHH9-4; Sequence=VSP_041604, VSP_041605; Name=5; IsoId=Q8NHH9-5; Sequence=VSP_041604; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:18270207, ECO:0000269|PubMed:27619977}; Multi-pass membrane protein {ECO:0000269|PubMed:18270207}. Note=Localizes at endoplasmic reticulum (ER) three-way tubular junctions (PubMed:27619977). {ECO:0000269|PubMed:27619977}.


uniprotID: P38936
geneSymbol: CDKN1A
pdb: 1AXC;2ZVV;2ZVW;4RJF;5E0U;6CEJ;
length: 164
go: ENSG00000124762;
snps: rs4986866 rs1801270 rs4986867
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
reactome:
R-HSA-187577;R-HSA-198323;R-HSA-2559582;R-HSA-2559586;R-HSA-5674400;R-HSA-6785807;R-HSA-6804116;R-HSA-69202;R-HSA-69231;R-HSA-69563;R-HSA-69656;R-HSA-69895;R-HSA-8852276;R-HSA-8866911;R-HSA-8878166;R-HSA-8941855;

name:
Cyclin-dependent kinase inhibitor 1 (CDK-interacting protein 1) (Melanoma differentiation-associated protein 6) (MDA-6) (p21)

sequence:
MSEPAGDVRQNPCGSKACRRLFGPVDSEQLSRDCDALMAGCIQEARERWNFDFVTETPLEGDFAWERVRGLGLPKLYLPTGPRRGRDELGGGRRPGTSPALLQGTAEEDHVDLSLSCTLVPRSGEQAEGSPGGPGDSQGRKRRQTSMTDFYHSKRRLIFSKRKP

opentargets:
cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; cytosol [GO:0005829]; nuclear body [GO:0016604]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PCNA-p21 complex [GO:0070557]; perinuclear region of cytoplasm [GO:0048471]; protein-containing complex [GO:0032991]; cyclin-dependent protein kinase activating kinase activity [GO:0019912]; cyclin-dependent protein serine/threonine kinase activity [GO:0004693]; cyclin-dependent protein serine/threonine kinase inhibitor activity [GO:0004861]; metal ion binding [GO:0046872]; protein kinase binding [GO:0019901]; protein kinase inhibitor activity [GO:0004860]; protein-containing complex binding [GO:0044877]; ubiquitin protein ligase binding [GO:0031625]; animal organ regeneration [GO:0031100]; cell cycle arrest [GO:0007050]; cellular response to amino acid starvation [GO:0034198]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to extracellular stimulus [GO:0031668]; cellular response to heat [GO:0034605]; cellular response to ionizing radiation [GO:0071479]; cellular response to UV-B [GO:0071493]; cellular senescence [GO:0090398]; cytokine-mediated signaling pathway [GO:0019221]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; G1/S transition of mitotic cell cycle [GO:0000082]; G2/M transition of mitotic cell cycle [GO:0000086]; intestinal epithelial cell maturation [GO:0060574]; intrinsic apoptotic signaling pathway [GO:0097193]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell growth [GO:0030308]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cyclin-dependent protein kinase activity [GO:1904030]; negative regulation of G1/S transition of mitotic cell cycle [GO:2000134]; negative regulation of phosphorylation [GO:0042326]; negative regulation of vascular smooth muscle cell proliferation [GO:1904706]; positive regulation of cell death [GO:0010942]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of protein kinase activity [GO:0045860]; positive regulation of reactive oxygen species metabolic process [GO:2000379]; protein stabilization [GO:0050821]; Ras protein signal transduction [GO:0007265]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; regulation of transcription by RNA polymerase II [GO:0006357]; replicative senescence [GO:0090399]; response to arsenic-containing substance [GO:0046685]; response to corticosterone [GO:0051412]; response to drug [GO:0042493]; response to hyperoxia [GO:0055093]; response to organonitrogen compound [GO:0010243]; response to toxic substance [GO:0009636]; response to X-ray [GO:0010165]; stress-induced premature senescence [GO:0090400]; transcription initiation from RNA polymerase II promoter [GO:0006367]


uniprotID: Q49AH0
geneSymbol: CDNF
pdb: 2LPN;2W50;4BIT;
length: 187
go: ENSG00000185267;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:17611540, ECO:0000269|PubMed:18561914}.
name:
Cerebral dopamine neurotrophic factor (ARMET-like protein 1) (Conserved dopamine neurotrophic factor)

sequence:
MWCASPVAVVAFCAGLLVSHPVLTQGQEAGGRPGADCEVCKEFLNRFYKSLIDRGVNFSLDTIEKELISFCLDTKGKENRLCYYLGATKDAATKILSEVTRPMSVHMPAMKICEKLKKLDSQICELKYEKTLDLASVDLRKMRVAELKQILHSWGEECRACAEKTDYVNLIQELAPKYAATHPKTEL

opentargets:
endoplasmic reticulum [GO:0005783]; extracellular space [GO:0005615]; growth factor activity [GO:0008083]; neuron projection development [GO:0031175]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q49AH0-1; Sequence=Displayed; Name=2; IsoId=Q49AH0-2; Sequence=VSP_023986; Note=No experimental confirmation available.; 


uniprotID: Q86X02
geneSymbol: CDR2L
name: Cerebellar degeneration-related protein 2-like (Paraneoplastic 62 kDa antigen)
length: 465
go: ENSG00000109089;
snps: rs36057512
sequence:


uniprotID: P47902
geneSymbol: CDX1
pdb: 5LUX;
name: Homeobox protein CDX-1 (Caudal-type homeobox protein 1)
length: 265
go: ENSG00000113722;
snps: rs2302275
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleus [GO:0005634]; distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001205]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; methyl-CpG binding [GO:0008327]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription regulatory region DNA binding [GO:0044212]; animal organ morphogenesis [GO:0009887]; anterior/posterior pattern specification [GO:0009952]; bone morphogenesis [GO:0060349]; cell differentiation [GO:0030154]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of somitogenesis [GO:0014807]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P47902-1; Sequence=Displayed; Name=2; IsoId=P47902-2; Sequence=VSP_021030; 


uniprotID: P17676
geneSymbol: CEBPB
reactome: R-HSA-2559582;R-HSA-381340;
pdb: 1GTW;1GU4;1GU5;1H88;1H89;1H8A;1HJB;1IO4;2E42;2E43;
length: 345
go: ENSG00000172216;
snps: rs4253440
name:
CCAAT/enhancer-binding protein beta (C/EBP beta) (Liver activator protein) (LAP) (Liver-enriched inhibitory protein) (LIP) (Nuclear factor NF-IL6) (Transcription factor 5) (TCF-5)

sequence:

opentargets:
CHOP-C/EBP complex [GO:0036488]; condensed chromosome, centromeric region [GO:0000779]; cytoplasm [GO:0005737]; nuclear chromatin [GO:0000790]; nuclear matrix [GO:0016363]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; glucocorticoid receptor binding [GO:0035259]; histone acetyltransferase binding [GO:0035035]; histone deacetylase binding [GO:0042826]; kinase binding [GO:0019900]; protein heterodimerization activity [GO:0046982]; 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]; RNA polymerase II core promoter sequence-specific DNA binding [GO:0000979]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; ubiquitin-like protein ligase binding [GO:0044389]; acute-phase response [GO:0006953]; brown fat cell differentiation [GO:0050873]; cellular response to amino acid stimulus [GO:0071230]; cellular response to interleukin-1 [GO:0071347]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to organic cyclic compound [GO:0071407]; defense response to bacterium [GO:0042742]; embryonic placenta development [GO:0001892]; granuloma formation [GO:0002432]; hepatocyte proliferation [GO:0072574]; immune response [GO:0006955]; inflammatory response [GO:0006954]; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress [GO:0070059]; liver regeneration [GO:0097421]; mammary gland epithelial cell differentiation [GO:0060644]; mammary gland epithelial cell proliferation [GO:0033598]; memory [GO:0007613]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of T cell proliferation [GO:0042130]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neuron differentiation [GO:0030182]; ovarian follicle development [GO:0001541]; positive regulation of biomineral tissue development [GO:0070169]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of fat cell differentiation [GO:0045600]; positive regulation of interleukin-4 production [GO:0032753]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of sodium-dependent phosphate transport [GO:2000120]; 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]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of interleukin-6 biosynthetic process [GO:0045408]; regulation of odontoblast differentiation [GO:1901329]; regulation of osteoclast differentiation [GO:0045670]; regulation of transcription involved in cell fate commitment [GO:0060850]; regulation of transcription, DNA-templated [GO:0006355]; response to endoplasmic reticulum stress [GO:0034976]; T-helper 1 cell activation [GO:0035711]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=3;  Name=1; Synonyms=C/EBPbeta-FL; IsoId=P17676-1; Sequence=Displayed; Name=2; Synonyms=C/EBPbeta-LAP; IsoId=P17676-2; Sequence=VSP_053314; Name=3; Synonyms=C/EBPbeta-LIP; IsoId=P17676-3; Sequence=VSP_053313; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20829347}. Cytoplasm {ECO:0000269|PubMed:9374525}. Note=Translocates to the nucleus when phosphorylated at Ser-288. In T-cells when sumoylated drawn to pericentric heterochromatin thereby allowing proliferation (By similarity). {ECO:0000250|UniProtKB:P28033, ECO:0000269|PubMed:9374525}.


uniprotID: Q9Y2Q0
geneSymbol: ATP8A1
reactome: R-HSA-6798695;R-HSA-936837;
length: 1164
go: ENSG00000124406;
drug: DB00144;
snps: rs3792687
name:
Phospholipid-transporting ATPase IA (EC 7.6.2.1) (ATPase class I type 8A member 1) (Chromaffin granule ATPase II) (P4-ATPase flippase complex alpha subunit ATP8A1)

sequence:

opentargets:
azurophil granule membrane [GO:0035577]; chromaffin granule membrane [GO:0042584]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; trans-Golgi network [GO:0005802]; ATP binding [GO:0005524]; cation-transporting ATPase activity [GO:0019829]; magnesium ion binding [GO:0000287]; phospholipid-translocating ATPase activity [GO:0004012]; ion transmembrane transport [GO:0034220]; learning [GO:0007612]; neutrophil degranulation [GO:0043312]; phospholipid translocation [GO:0045332]; positive regulation of cell migration [GO:0030335]; positive regulation of phospholipid translocation [GO:0061092]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Long; IsoId=Q9Y2Q0-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q9Y2Q0-2; Sequence=VSP_000431; Name=3; IsoId=Q9Y2Q0-3; Sequence=VSP_040977, VSP_000431; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, chromaffin granule membrane {ECO:0000250|UniProtKB:P70704}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P70704}. Cytoplasmic granule {ECO:0000269|PubMed:20947505}. Cell membrane {ECO:0000269|PubMed:20947505, ECO:0000269|PubMed:21914794}. Endoplasmic reticulum {ECO:0000269|PubMed:20947505, ECO:0000269|PubMed:21914794}. Golgi apparatus {ECO:0000269|PubMed:20947505, ECO:0000269|PubMed:21914794}. Note=Exit from the endoplasmic reticulum requires the presence of TMEM30A, but not TMEM30B (PubMed:20947505). In the presence of TMEM30A, predominantly located in cytoplasmic punctate structures and localizes to the plasma membrane (PubMed:20947505). Localizes to plasma membranes of red blood cells (By similarity). {ECO:0000250|UniProtKB:P70704, ECO:0000269|PubMed:20947505}.


uniprotID: P05026
geneSymbol: ATP1B1
reactome: R-HSA-210991;R-HSA-5578775;R-HSA-936837;
length: 303
go: ENSG00000143153;
drug: DB09479;
name:
Sodium/potassium-transporting ATPase subunit beta-1 (Sodium/potassium-dependent ATPase subunit beta-1)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; caveola [GO:0005901]; extracellular exosome [GO:0070062]; extracellular vesicle [GO:1903561]; intercalated disc [GO:0014704]; intracellular [GO:0005622]; membrane [GO:0016020]; myelin sheath [GO:0043209]; plasma membrane [GO:0005886]; sarcolemma [GO:0042383]; sodium:potassium-exchanging ATPase complex [GO:0005890]; ATPase activator activity [GO:0001671]; ATPase binding [GO:0051117]; MHC class II protein complex binding [GO:0023026]; protein C-terminus binding [GO:0008022]; protein kinase binding [GO:0019901]; sodium:potassium-exchanging ATPase activity [GO:0005391]; ATP metabolic process [GO:0046034]; cardiac muscle contraction [GO:0060048]; cell adhesion [GO:0007155]; cell communication by electrical coupling involved in cardiac conduction [GO:0086064]; cellular calcium ion homeostasis [GO:0006874]; cellular potassium ion homeostasis [GO:0030007]; cellular sodium ion homeostasis [GO:0006883]; leukocyte migration [GO:0050900]; membrane repolarization [GO:0086009]; membrane repolarization during cardiac muscle cell action potential [GO:0086013]; positive regulation of ATPase activity [GO:0032781]; positive regulation of calcium:sodium antiporter activity [GO:1903281]; positive regulation of potassium ion import [GO:1903288]; positive regulation of potassium ion transmembrane transporter activity [GO:1901018]; positive regulation of sodium ion export across plasma membrane [GO:1903278]; potassium ion import [GO:0010107]; potassium ion import across plasma membrane [GO:1990573]; protein localization to plasma membrane [GO:0072659]; protein stabilization [GO:0050821]; protein transport into plasma membrane raft [GO:0044861]; regulation of cardiac muscle contraction by calcium ion signaling [GO:0010882]; regulation of gene expression [GO:0010468]; relaxation of cardiac muscle [GO:0055119]; response to hypoxia [GO:0001666]; sodium ion export across plasma membrane [GO:0036376]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P05026-1; Sequence=Displayed; Name=2; IsoId=P05026-2; Sequence=VSP_000349; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000255}; Single-pass type II membrane protein {ECO:0000255}. Cell membrane, sarcolemma {ECO:0000250|UniProtKB:P14094}. Note=Colocalizes with OBSCN at the intercalated disk and sarcolemma in cardiomyocytes. Localizes in long striations at the level of Z and M lines. {ECO:0000250|UniProtKB:P14094}.


uniprotID: Q9Y2G3
geneSymbol: ATP11B
reactome: R-HSA-6798695;R-HSA-936837;
length: 1177
go: ENSG00000058063;
name:
Probable phospholipid-transporting ATPase IF (EC 7.6.2.1) (ATPase IR) (ATPase class VI type 11B) (P4-ATPase flippase complex alpha subunit ATP11B)

sequence:

opentargets:
azurophil granule membrane [GO:0035577]; early endosome [GO:0005769]; endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; nuclear inner membrane [GO:0005637]; plasma membrane [GO:0005886]; recycling endosome [GO:0055037]; recycling endosome membrane [GO:0055038]; trans-Golgi network [GO:0005802]; ATP binding [GO:0005524]; ion transmembrane transporter activity [GO:0015075]; magnesium ion binding [GO:0000287]; phospholipid-translocating ATPase activity [GO:0004012]; aminophospholipid transport [GO:0015917]; ion transmembrane transport [GO:0034220]; ion transport [GO:0006811]; neutrophil degranulation [GO:0043312]; phospholipid translocation [GO:0045332]

location:
SUBCELLULAR LOCATION: Recycling endosome membrane {ECO:0000269|PubMed:21914794}; Multi-pass membrane protein. Early endosome {ECO:0000269|PubMed:23585472}. Endoplasmic reticulum {ECO:0000269|PubMed:21914794}. Golgi apparatus, trans-Golgi network {ECO:0000269|PubMed:23585472}. Note=Exit from the endoplasmic reticulum requires the presence of TMEM30A, but not TMEM30B (PubMed:21914794). In the presence of TMEM30A, mainly located in recycling endosomes (PubMed:21914794). {ECO:0000269|PubMed:21914794}.


uniprotID: Q9ULI0
geneSymbol: ATAD2B
pdb: 2DKW;3LXJ;
name: ATPase family AAA domain-containing protein 2B
length: 1458
snps: rs10210982
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; chromatin binding [GO:0003682]; histone binding [GO:0042393]; lysine-acetylated histone binding [GO:0070577]; negative regulation of chromatin silencing [GO:0031936]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9ULI0-1; Sequence=Displayed; Name=2; IsoId=Q9ULI0-2; Sequence=VSP_023276; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24561620}. Note=Partially localizes to replication sites.


uniprotID: Q7Z4Y8
geneSymbol: ATP5MGL
length: 100
go: ENSG00000249222;
location: SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000250}.
name:
Putative ATP synthase subunit g 2, mitochondrial (ATPase subunit g 2) (ATP synthase membrane subunit g-like protein)

sequence:
MAPFVRNLVEKTPALVNAAVTYLKPRLAAFWYYTTVELVPPTPAEIPRAIQSLKKIVSSAQTGSFKQLTVKEALLNGLVATEVSTWFYVREITGKRGIIG

opentargets:
mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) [GO:0000276]; mitochondrion [GO:0005739]; proton transmembrane transporter activity [GO:0015078]; ATP hydrolysis coupled cation transmembrane transport [GO:0099132]; ATP synthesis coupled proton transport [GO:0015986]


uniprotID: Q8N100
geneSymbol: ATOH7
length: 152
go: ENSG00000179774;
snps: rs587777666 rs587777664 rs111699024
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Protein atonal homolog 7 (Class A basic helix-loop-helix protein 13) (bHLHa13) (Helix-loop-helix protein hATH-5) (hATH5)

sequence:
MKSCKPSGPPAGARVAPPCAGGTECAGTCAGAGRLESAARRRLAANARERRRMQGLNTAFDRLRRVVPQWGQDKKLSKYETLQMALSYIMALTRILAEAERFGSERDWVGLHCEHFGRDHYLPFPGAKLPGESELYSQRLFGFQPEPFQMAT

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; cell differentiation [GO:0030154]; circadian rhythm [GO:0007623]; entrainment of circadian clock [GO:0009649]; neural retina development [GO:0003407]; optic nerve development [GO:0021554]


uniprotID: Q8WXF7
geneSymbol: ATL1
pdb: 3Q5D;3Q5E;3QNU;3QOF;4IDN;4IDO;4IDP;4IDQ;6B9D;6B9E;6B9F;6B9G;
length: 558
go: ENSG00000198513;
name:
Atlastin-1 (EC 3.6.5.-) (Brain-specific GTP-binding protein) (GTP-binding protein 3) (GBP-3) (hGBP3) (Guanine nucleotide-binding protein 3) (Spastic paraplegia 3 protein A)

sequence:

opentargets:
axon [GO:0030424]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum tubular network [GO:0071782]; endoplasmic reticulum tubular network membrane [GO:0098826]; Golgi apparatus [GO:0005794]; Golgi cis cisterna [GO:0000137]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; identical protein binding [GO:0042802]; axonogenesis [GO:0007409]; endoplasmic reticulum organization [GO:0007029]; endoplasmic reticulum tubular network membrane organization [GO:1990809]; protein homooligomerization [GO:0051260]

snps:
rs17850684 rs200314808 rs606231265 rs119476051 rs17850683 rs119476049 rs119476046 rs864622520 rs119476048 rs119476047 rs28939094 rs397514712 rs119476050 rs387906941 rs864622269 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WXF7-1; Sequence=Displayed; Name=2; IsoId=Q8WXF7-2; Sequence=VSP_044864; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:14506257, ECO:0000269|PubMed:16339213, ECO:0000269|PubMed:17321752, ECO:0000269|PubMed:19665976, ECO:0000269|PubMed:27619977}; Multi-pass membrane protein {ECO:0000269|PubMed:14506257, ECO:0000269|PubMed:16339213, ECO:0000269|PubMed:17321752, ECO:0000269|PubMed:19665976}. Golgi apparatus membrane {ECO:0000269|PubMed:14506257, ECO:0000269|PubMed:17321752}; Multi-pass membrane protein {ECO:0000269|PubMed:14506257, ECO:0000269|PubMed:17321752}. Cell projection, axon {ECO:0000250|UniProtKB:Q6PST4}. Note=Localizes to endoplasmic reticulum tubular network (PubMed:27619977). {ECO:0000269|PubMed:27619977}.


uniprotID: Q9UKY7
geneSymbol: CDV3
name: Protein CDV3 homolog
length: 258
go: ENSG00000091527;
opentargets: cytosol [GO:0005829]; plasma membrane [GO:0005886]; cell proliferation [GO:0008283]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UKY7-1; Sequence=Displayed; Name=2; IsoId=Q9UKY7-2; Sequence=VSP_027760, VSP_027761; Name=3; IsoId=Q9UKY7-3; Sequence=VSP_041357, VSP_041358, VSP_041359; 


uniprotID: Q9Y6F8
geneSymbol: CDY1; CDY1B
pdb: 2FBM;
name: Testis-specific chromodomain protein Y 1 (EC 2.3.1.48)
length: 540
go: ENSG00000172352;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18450745}.
sequence:

opentargets:
nucleus [GO:0005634]; histone acetyltransferase activity [GO:0004402]; methylated histone binding [GO:0035064]; transcription corepressor activity [GO:0003714]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y6F8-1; Sequence=Displayed; Name=2; IsoId=Q9Y6F8-2; Sequence=VSP_001079; 


uniprotID: Q6UWT4
geneSymbol: C5orf46
name: Uncharacterized protein C5orf46
sequence: MAVSVLRLTVVLGLLVLFLTCYADDKPDKPDDKPDDSGKDPKPDFPKFLSLLGTEIIENAVEFILRSMSRSTGFMEFDDNEGKHSSK
length: 87
go: ENSG00000178776;
opentargets: extracellular exosome [GO:0070062]
snps: rs7722926
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6UWT4-1; Sequence=Displayed; Name=2; IsoId=Q6UWT4-2; Sequence=VSP_031115; 


uniprotID: F2Z3F1
geneSymbol: C5orf67
name: Uncharacterized protein C5orf67
length: 127
go: ENSG00000225940;
sequence:
MKRIFYKHRKRRAPVFKEPEHGYQSLPELVLVPAQPLVCLGDYRTPDPGGLFPWSLRLMMPGAWTKLPGDGGSVPEKGKHGILGAQGQEHPGLNVSSPFSSPWTCYLSGHQPQNNNSPELQVKEILL


uniprotID: Q8N8E3
geneSymbol: CEP112
name: Centrosomal protein of 112 kDa (Cep112) (Coiled-coil domain-containing protein 46)
length: 955
go: ENSG00000154240;
snps: rs17704679
sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; inhibitory synapse [GO:0060077]; plasma membrane [GO:0005886]; receptor localization to synapse [GO:0097120]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N8E3-1; Sequence=Displayed; Name=2; IsoId=Q8N8E3-2; Sequence=VSP_018338, VSP_018339; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250}. Note=Localizes around spindle poles in some cells. {ECO:0000269|PubMed:21399614}.


uniprotID: Q6ZU80
geneSymbol: CEP128
name: Centrosomal protein of 128 kDa (Cep128)
length: 1094
go: ENSG00000100629;
snps: rs7160694 rs327463
sequence:

opentargets:
centriolar subdistal appendage [GO:0120103]; centriole [GO:0005814]; spindle pole [GO:0000922]; protein localization [GO:0008104]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=2; IsoId=Q6ZU80-2; Sequence=Displayed; Name=1; IsoId=Q6ZU80-1; Sequence=VSP_014752, VSP_030196; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=Q6ZU80-3; Sequence=VSP_030194, VSP_030195; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:21399614}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:21399614}. Note=Associates with the mother centriole.


uniprotID: Q5TB80
geneSymbol: CEP162
reactome: R-HSA-5620912;
name: Centrosomal protein of 162 kDa (Cep162) (Protein QN1 homolog)
length: 1403
go: ENSG00000135315;
snps: rs17790493 rs16874323 rs17790493 rs16874323
sequence:

opentargets:
axonemal microtubule [GO:0005879]; centriole [GO:0005814]; centrosome [GO:0005813]; cytosol [GO:0005829]; nucleus [GO:0005634]; spindle [GO:0005819]; ciliary basal body-plasma membrane docking [GO:0097711]; cilium assembly [GO:0060271]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5TB80-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q5TB80-2; Sequence=VSP_026953; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, spindle. Nucleus. Note=Localizes to the distal end of centrioles throughout the cell cycle. During ciliogenesis, found at the cilia base. Localizes to spindle microtubules during mitosis.


uniprotID: A8MTB9
geneSymbol: CEACAM18
name: Carcinoembryonic antigen-related cell adhesion molecule 18
length: 384
go: ENSG00000213822;
snps: rs8106673 rs12610545
sequence:


uniprotID: Q7Z692
geneSymbol: CEACAM19
name: Carcinoembryonic antigen-related cell adhesion molecule 19 (Carcinoembryonic antigen-like 1)
length: 300
go: ENSG00000186567;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q7Z692-1; Sequence=Displayed; Name=2; IsoId=Q7Z692-2; Sequence=VSP_010708, VSP_010709; Name=3; IsoId=Q7Z692-3; Sequence=VSP_043228; 


uniprotID: Q3KPI0
geneSymbol: CEACAM21
name: Carcinoembryonic antigen-related cell adhesion molecule 21
length: 293
opentargets: integral component of membrane [GO:0016021]
snps: rs714106 rs2302188
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q3KPI0-1; Sequence=Displayed; Name=2; IsoId=Q3KPI0-2; Sequence=VSP_027304; Name=3; IsoId=Q3KPI0-3; Sequence=VSP_027303; 


uniprotID: O75871
geneSymbol: CEACAM4
length: 244
go: ENSG00000105352;
snps: rs1126454 rs3848568
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Carcinoembryonic antigen-related cell adhesion molecule 4 (Carcinoembryonic antigen CGM7) (Non-specific cross-reacting antigen W236)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; phagocytosis [GO:0006909]


uniprotID: P40199
geneSymbol: CEACAM6
reactome: R-HSA-1566977;R-HSA-202733;R-HSA-6798695;
pdb: 4WHC;4WTZ;4Y8A;4YIQ;
length: 344
snps: rs11548735
name:
Carcinoembryonic antigen-related cell adhesion molecule 6 (Non-specific crossreacting antigen) (Normal cross-reacting antigen) (CD antigen CD66c)

sequence:

opentargets:
anchored component of membrane [GO:0031225]; apical plasma membrane [GO:0016324]; azurophil granule membrane [GO:0035577]; cell surface [GO:0009986]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; protein heterodimerization activity [GO:0046982]; apoptotic process [GO:0006915]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; leukocyte migration [GO:0050900]; negative regulation of anoikis [GO:2000811]; neutrophil degranulation [GO:0043312]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of endothelial cell-matrix adhesion via fibronectin [GO:1904906]; positive regulation of heterotypic cell-cell adhesion [GO:0034116]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor {ECO:0000269|PubMed:2317824}. Apical cell membrane {ECO:0000269|PubMed:10436421}. Cell surface {ECO:0000269|PubMed:1378450, ECO:0000269|PubMed:16204051, ECO:0000269|PubMed:2317824, ECO:0000269|PubMed:8776764, ECO:0000305|PubMed:2803308}. Note=Localized to the apical glycocalyx surface. {ECO:0000269|PubMed:10436421}.


uniprotID: P49716
geneSymbol: CEBPD
reactome: R-HSA-381340;R-HSA-6785807;
name: CCAAT/enhancer-binding protein delta (C/EBP delta) (Nuclear factor NF-IL6-beta) (NF-IL6-beta)
length: 269
go: ENSG00000221869;
snps: rs34948549
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305|PubMed:16397300}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; cytokine-mediated signaling pathway [GO:0019221]; transcription by RNA polymerase II [GO:0006366]


uniprotID: Q15744
geneSymbol: CEBPE
pdb: 3T92;
name: CCAAT/enhancer-binding protein epsilon (C/EBP epsilon)
length: 281
go: ENSG00000092067;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11313242, ECO:0000269|PubMed:26019275}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; 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]; cellular response to lipopolysaccharide [GO:0071222]; cytokine biosynthetic process [GO:0042089]; defense response [GO:0006952]; defense response to bacterium [GO:0042742]; granulocyte differentiation [GO:0030851]; macrophage differentiation [GO:0030225]; phagocytosis [GO:0006909]; positive regulation of transcription by RNA polymerase II [GO:0045944]


uniprotID: Q9BXF3
geneSymbol: CECR2
pdb: 3NXB;5V84;
name: Cat eye syndrome critical region protein 2
length: 1484
go: ENSG00000099954;
snps: rs5747211 rs1296794
sequence:

opentargets:
CERF complex [GO:0090537]; nucleus [GO:0005634]; apoptotic DNA fragmentation [GO:0006309]; ATP-dependent chromatin remodeling [GO:0043044]; cytoskeleton organization [GO:0007010]; cytoskeleton-dependent cytokinesis [GO:0061640]; execution phase of apoptosis [GO:0097194]; neural tube development [GO:0021915]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=A; IsoId=Q9BXF3-1; Sequence=Displayed; Name=B; Synonyms=CECR2B; IsoId=Q9BXF3-2; Sequence=VSP_000571, VSP_000572, VSP_000573; Name=C; IsoId=Q9BXF3-3; Sequence=VSP_020407; 


uniprotID: P08218
geneSymbol: CELA2B
name: Chymotrypsin-like elastase family member 2B (EC 3.4.21.71) (Elastase-2B)
length: 269
go: ENSG00000215704;
snps: rs3820071 rs3766160 rs6429745 rs3737703
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; serine-type endopeptidase activity [GO:0004252]; proteolysis [GO:0006508]


uniprotID: Q7Z3C6
geneSymbol: ATG9A
reactome: R-HSA-1632852;
name: Autophagy-related protein 9A (APG9-like 1) (mATG9)
length: 839
go: ENSG00000198925;
snps: rs2276635 rs2276634
sequence:

opentargets:
autophagosome [GO:0005776]; endoplasmic reticulum membrane [GO:0005789]; endosome [GO:0005768]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; late endosome [GO:0005770]; late endosome membrane [GO:0031902]; membrane [GO:0016020]; phagophore assembly site [GO:0000407]; recycling endosome [GO:0055037]; trans-Golgi network [GO:0005802]; autophagosome assembly [GO:0000045]; autophagy of mitochondrion [GO:0000422]; late nucleophagy [GO:0044805]; protein localization to phagophore assembly site [GO:0034497]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q7Z3C6-1; Sequence=Displayed; Name=2; IsoId=Q7Z3C6-2; Sequence=VSP_013396; Name=3; IsoId=Q7Z3C6-3; Sequence=VSP_013397, VSP_013398; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, autophagosome membrane; Multi-pass membrane protein. Golgi apparatus, trans-Golgi network membrane; Multi-pass membrane protein. Late endosome membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Note=Under amino acid starvation or rapamycin treatment, redistributes from a juxtanuclear clustered pool to a dispersed peripheral cytosolic pool. The starvation-induced redistribution depends on ULK1, ATG13, as well as SH3GLB1.


uniprotID: P23634
geneSymbol: ATP2B4
reactome: R-HSA-418359;R-HSA-5578775;R-HSA-936837;
pdb: 1CFF;2KNE;
length: 1241
go: ENSG00000058668;
name:
Plasma membrane calcium-transporting ATPase 4 (PMCA4) (EC 3.6.3.8) (Matrix-remodeling-associated protein 1) (Plasma membrane calcium ATPase isoform 4) (Plasma membrane calcium pump isoform 4)

sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; caveola [GO:0005901]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; integral component of presynaptic active zone membrane [GO:0099059]; membrane [GO:0016020]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; sperm flagellum [GO:0036126]; sperm principal piece [GO:0097228]; T-tubule [GO:0030315]; Z disc [GO:0030018]; ATP binding [GO:0005524]; calcium-transporting ATPase activity [GO:0005388]; calmodulin binding [GO:0005516]; metal ion binding [GO:0046872]; nitric-oxide synthase binding [GO:0050998]; nitric-oxide synthase inhibitor activity [GO:0036487]; PDZ domain binding [GO:0030165]; protein kinase binding [GO:0019901]; protein phosphatase 2B binding [GO:0030346]; scaffold protein binding [GO:0097110]; calcium ion export [GO:1901660]; calcium ion import across plasma membrane [GO:0098703]; calcium ion transmembrane import into cytosol [GO:0097553]; calcium ion transmembrane transport [GO:0070588]; cellular calcium ion homeostasis [GO:0006874]; cellular response to epinephrine stimulus [GO:0071872]; flagellated sperm motility [GO:0030317]; hippocampus development [GO:0021766]; ion transmembrane transport [GO:0034220]; negative regulation of adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process [GO:0140199]; negative regulation of arginine catabolic process [GO:1900082]; negative regulation of calcineurin-NFAT signaling cascade [GO:0070885]; negative regulation of cardiac muscle hypertrophy in response to stress [GO:1903243]; negative regulation of citrulline biosynthetic process [GO:1903249]; negative regulation of nitric oxide biosynthetic process [GO:0045019]; negative regulation of nitric oxide mediated signal transduction [GO:0010751]; negative regulation of nitric-oxide synthase activity [GO:0051001]; negative regulation of peptidyl-cysteine S-nitrosylation [GO:1902083]; negative regulation of the force of heart contraction [GO:0098736]; neural retina development [GO:0003407]; positive regulation of cAMP-dependent protein kinase activity [GO:2000481]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; regulation of cardiac conduction [GO:1903779]; regulation of cell cycle G1/S phase transition [GO:1902806]; regulation of cytosolic calcium ion concentration [GO:0051480]; regulation of sodium ion transmembrane transport [GO:1902305]; regulation of transcription by RNA polymerase II [GO:0006357]; response to hydrostatic pressure [GO:0051599]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Comment=There is a combination of two alternatively spliced domains at N-terminal site A (X and Z) and at C-terminal site B/C (A, B, D and K). The splice sites have mostly been studied independently. Full isoforms so far detected are isoform XA and isoform XB. Experimental confirmation may be lacking for some isoforms.; Name=XD; Synonyms=AIICIV; IsoId=P23634-1; Sequence=Displayed; Name=XA; Synonyms=AIICII; IsoId=P23634-2; Sequence=VSP_000405; Name=ZA; Synonyms=AICII; IsoId=P23634-3; Sequence=VSP_000402, VSP_000405; Name=XK; Synonyms=XG; IsoId=P23634-4; Sequence=VSP_000403, VSP_000405; Name=ZK; Synonyms=ZG; IsoId=P23634-5; Sequence=VSP_000402, VSP_000403, VSP_000405; Name=XB; Synonyms=AIICI, hPMCA4b; IsoId=P23634-6; Sequence=VSP_000404; Name=ZB; Synonyms=AICI; IsoId=P23634-7; Sequence=VSP_000402, VSP_000404; Name=ZD; Synonyms=AICIV; IsoId=P23634-8; Sequence=VSP_000402; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:2137451}; Multi-pass membrane protein {ECO:0000255}. Cell projection, cilium, flagellum membrane {ECO:0000250|UniProtKB:Q6Q477}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q9UII2
geneSymbol: ATP5IF1
length: 106
go: ENSG00000130770;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:12110673}.
name:
ATPase inhibitor, mitochondrial (ATP synthase F1 subunit epsilon) (Inhibitor of F(1)F(o)-ATPase) (IF(1)) (IF1)

sequence:
MAVTALAARTWLGVWGVRTMQARGFGSDQSENVDRGAGSIREAGGAFGKREQAEEERYFRAQSREQLAALKKHHEEEIVHHKKEIERLQKEIERHKQKIKMLKHDD

opentargets:
cell surface [GO:0009986]; mitochondrion [GO:0005739]; angiostatin binding [GO:0043532]; ATPase binding [GO:0051117]; ATPase inhibitor activity [GO:0042030]; calmodulin binding [GO:0005516]; enzyme binding [GO:0019899]; enzyme inhibitor activity [GO:0004857]; mitochondrial proton-transporting ATP synthase complex binding [GO:0140260]; protein homodimerization activity [GO:0042803]; angiogenesis [GO:0001525]; erythrocyte differentiation [GO:0030218]; generation of precursor metabolites and energy [GO:0006091]; heme biosynthetic process [GO:0006783]; mitochondrial depolarization [GO:0051882]; negative regulation of ATPase activity [GO:0032780]; negative regulation of endothelial cell proliferation [GO:0001937]; negative regulation of hydrolase activity [GO:0051346]; positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization [GO:1904925]; positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway [GO:1901030]; positive regulation of proteolysis involved in cellular protein catabolic process [GO:1903052]; protein homooligomerization [GO:0051260]; protein homotetramerization [GO:0051289]; reactive oxygen species metabolic process [GO:0072593]; regulation of ATP metabolic process [GO:1903578]; regulation of protein targeting to mitochondrion [GO:1903214]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UII2-1; Sequence=Displayed; Name=2; IsoId=Q9UII2-2; Sequence=VSP_041417; Name=3; IsoId=Q9UII2-3; Sequence=VSP_041418; 


uniprotID: Q8IVW4
geneSymbol: CDKL3
pdb: 3ZDU;
name: Cyclin-dependent kinase-like 3 (EC 2.7.11.22) (Serine/threonine-protein kinase NKIAMRE)
length: 592
go: ENSG00000006837;
snps: rs35687772
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; ATP binding [GO:0005524]; cyclin-dependent protein serine/threonine kinase activity [GO:0004693]; protein kinase activity [GO:0004672]; cellular protein modification process [GO:0006464]; dendrite extension [GO:0097484]; negative regulation of axon extension [GO:0030517]; positive regulation of dendrite morphogenesis [GO:0050775]; protein phosphorylation [GO:0006468]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IVW4-1; Sequence=Displayed; Name=2; IsoId=Q8IVW4-2; Sequence=VSP_016148; Note=No experimental confirmation available.; 


uniprotID: Q5MAI5
geneSymbol: CDKL4
name: Cyclin-dependent kinase-like 4 (EC 2.7.11.22)
length: 379
snps: rs35947084 rs35454041 rs6731369 rs56353587 rs34819676 rs56330730
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; ATP binding [GO:0005524]; cyclin-dependent protein serine/threonine kinase activity [GO:0004693]; protein phosphorylation [GO:0006468]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5MAI5-1; Sequence=Displayed; Name=2; IsoId=Q5MAI5-2; Sequence=VSP_055220; 


uniprotID: O75110
geneSymbol: ATP9A
reactome: R-HSA-936837;
name: Probable phospholipid-transporting ATPase IIA (EC 7.6.2.1) (ATPase class II type 9A)
length: 1047
go: ENSG00000054793;
sequence:

opentargets:
early endosome [GO:0005769]; early endosome membrane [GO:0031901]; endosome [GO:0005768]; integral component of membrane [GO:0016021]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; recycling endosome [GO:0055037]; 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=Long; IsoId=O75110-1; Sequence=Displayed; Name=Short; IsoId=O75110-2; Sequence=VSP_000432; 

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


uniprotID: Q04656
geneSymbol: ATP7A
reactome: R-HSA-3299685;R-HSA-6803544;R-HSA-936837;
name: Copper-transporting ATPase 1 (EC 3.6.3.54) (Copper pump 1) (Menkes disease-associated protein)
length: 1500
go: ENSG00000165240;
drug: DB00958;DB00515;DB00526;
snps: rs151340631 rs2234935 rs2234936 rs2227291 rs2234938
pdb:
1AW0;1KVI;1KVJ;1Q8L;1S6O;1S6U;1Y3J;1Y3K;1YJR;1YJT;1YJU;1YJV;2AW0;2G9O;2GA7;2K1R;2KIJ;2KMV;2KMX;3CJK;5T7L;

sequence:

opentargets:
apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; brush border membrane [GO:0031526]; cell leading edge [GO:0031252]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; late endosome [GO:0005770]; membrane [GO:0016020]; membrane raft [GO:0045121]; microvillus [GO:0005902]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; nucleus [GO:0005634]; perikaryon [GO:0043204]; perinuclear region of cytoplasm [GO:0048471]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; secretory granule [GO:0030141]; trans-Golgi network [GO:0005802]; trans-Golgi network transport vesicle [GO:0030140]; ATP binding [GO:0005524]; chaperone binding [GO:0051087]; copper ion binding [GO:0005507]; copper ion transmembrane transporter activity [GO:0005375]; copper-dependent protein binding [GO:0032767]; copper-exporting ATPase activity [GO:0004008]; copper-transporting ATPase activity [GO:0043682]; cuprous ion binding [GO:1903136]; Rac GTPase binding [GO:0048365]; superoxide dismutase copper chaperone activity [GO:0016532]; blood vessel development [GO:0001568]; blood vessel remodeling [GO:0001974]; cartilage development [GO:0051216]; catecholamine metabolic process [GO:0006584]; cellular copper ion homeostasis [GO:0006878]; cellular response to amino acid stimulus [GO:0071230]; cellular response to antibiotic [GO:0071236]; cellular response to cadmium ion [GO:0071276]; cellular response to cobalt ion [GO:0071279]; cellular response to copper ion [GO:0071280]; cellular response to hypoxia [GO:0071456]; cellular response to iron ion [GO:0071281]; cellular response to lead ion [GO:0071284]; cellular response to platelet-derived growth factor stimulus [GO:0036120]; central nervous system neuron development [GO:0021954]; cerebellar Purkinje cell differentiation [GO:0021702]; collagen fibril organization [GO:0030199]; copper ion export [GO:0060003]; copper ion import [GO:0015677]; copper ion transport [GO:0006825]; detoxification of copper ion [GO:0010273]; dopamine metabolic process [GO:0042417]; elastic fiber assembly [GO:0048251]; elastin biosynthetic process [GO:0051542]; epinephrine metabolic process [GO:0042414]; extracellular matrix organization [GO:0030198]; hair follicle morphogenesis [GO:0031069]; in utero embryonic development [GO:0001701]; lactation [GO:0007595]; liver development [GO:0001889]; locomotory behavior [GO:0007626]; lung alveolus development [GO:0048286]; mitochondrion organization [GO:0007005]; negative regulation of catalytic activity [GO:0043086]; negative regulation of iron ion transmembrane transport [GO:0034760]; neuron projection morphogenesis [GO:0048812]; norepinephrine metabolic process [GO:0042415]; peptidyl-lysine modification [GO:0018205]; pigmentation [GO:0043473]; plasma membrane copper ion transport [GO:0015679]; positive regulation of catalytic activity [GO:0043085]; positive regulation of cell size [GO:0045793]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of lamellipodium assembly [GO:0010592]; positive regulation of oxidoreductase activity [GO:0051353]; positive regulation of response to wounding [GO:1903036]; positive regulation of vascular associated smooth muscle cell migration [GO:1904754]; pyramidal neuron development [GO:0021860]; regulation of cytochrome-c oxidase activity [GO:1904959]; regulation of gene expression [GO:0010468]; regulation of oxidative phosphorylation [GO:0002082]; removal of superoxide radicals [GO:0019430]; response to iron(III) ion [GO:0010041]; response to manganese ion [GO:0010042]; response to zinc ion [GO:0010043]; serotonin metabolic process [GO:0042428]; skin development [GO:0043588]; T-helper cell differentiation [GO:0042093]; tryptophan metabolic process [GO:0006568]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=4; IsoId=Q04656-1; Sequence=Displayed; Name=1; IsoId=Q04656-2; Sequence=VSP_000419; Name=2; IsoId=Q04656-3; Sequence=VSP_000420; Name=3; Synonyms=2-16; IsoId=Q04656-4; Sequence=VSP_000424; Note=Lacks 6 transmembrane regions and 5 heavy-metal-associated (HMA) domains.; Name=5; IsoId=Q04656-5; Sequence=VSP_000425; Note=Lacks the transmembrane domains 3 and 4. Expressed at a low level in several tissues of normal individuals and is the only isoform found in patients with OHS.; Name=6; Synonyms=NML45; IsoId=Q04656-6; Sequence=VSP_000421, VSP_000422, VSP_000423; Note=Lacks all transmembrane regions and 5 heavy-metal-associated (HMA) domains, but has a putative nuclear localization signal attached at the N-terminus.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:10484781, ECO:0000269|PubMed:9147644, ECO:0000269|PubMed:9467005}; Multi-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000269|PubMed:10484781, ECO:0000269|PubMed:9147644}; Multi-pass membrane protein {ECO:0000255}. Note=Cycles constitutively between the trans-Golgi network (TGN) and the plasma membrane (PubMed:9147644). Predominantly found in the TGN and relocalized to the plasma membrane in response to elevated copper levels. {ECO:0000269|PubMed:9147644}.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm, cytosol {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 5: Endoplasmic reticulum {ECO:0000269|PubMed:9467005}.


uniprotID: P35670
geneSymbol: ATP7B
reactome: R-HSA-936837;
pdb: 2ARF;2EW9;2KOY;2LQB;2N7Y;2ROP;
length: 1465
go: ENSG00000123191;
drug: DB00958;DB00515;DB00526;
name:
Copper-transporting ATPase 2 (EC 3.6.3.54) (Copper pump 2) (Wilson disease-associated protein) [Cleaved into: WND/140 kDa]

sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of plasma membrane [GO:0005887]; late endosome [GO:0005770]; membrane [GO:0016020]; mitochondrion [GO:0005739]; perinuclear region of cytoplasm [GO:0048471]; trans-Golgi network [GO:0005802]; trans-Golgi network membrane [GO:0032588]; ATP binding [GO:0005524]; copper ion binding [GO:0005507]; copper ion transmembrane transporter activity [GO:0005375]; copper-exporting ATPase activity [GO:0004008]; copper-transporting ATPase activity [GO:0043682]; cellular copper ion homeostasis [GO:0006878]; cellular zinc ion homeostasis [GO:0006882]; copper ion import [GO:0015677]; copper ion transport [GO:0006825]; ion transmembrane transport [GO:0034220]; lactation [GO:0007595]; protein maturation by copper ion transfer [GO:0015680]; response to copper ion [GO:0046688]; sequestering of calcium ion [GO:0051208]

snps:
rs587783319 rs201738967 rs786204643 rs1429553821 rs557577836 rs373762572 rs551275663 rs774102085 rs770903362 rs1801243 rs587783298 rs1801244 rs1282624946 rs138427376 rs572122562 rs187046823 rs778475094 rs797045402 rs760501309 rs1173050016 rs376565432 rs752850609 rs374172791 rs587783299 rs200728096 rs186924074 rs72552285 rs121907998 rs372436901 rs72552259 rs121908001 rs1212479289 rs767218895 rs121908000 rs137853285 rs1394999756 rs756883878 rs765667658 rs773447981 rs770533110 rs766907687 rs28942075 rs28942075 rs121907997 rs121907997 rs772595172 rs193922103 rs137853284 rs28942074 rs28942074 rs137853284 rs751798708 rs541408630 rs751710854 rs539585071 rs1061472 rs773809011 rs768671894 rs1057520235 rs191312027 rs376355660 rs121907994 rs587783304 rs786204718 rs540935874 rs121907993 rs121907993 rs1230241288 rs1052485948 rs534960245 rs750019452 rs367855110 rs1057517310 rs779323689 rs28942076 rs1169959260 rs732774 rs60003608 rs121907996 rs774028495 rs770340441 rs201061621 rs778163447 rs72552255 rs1038582488 rs750407121 rs199623434 rs41292782 rs201038679 rs777791532 rs770782111 rs751078884 rs201497300 rs775055397 rs587783307 rs747584649 rs772089544 rs755851188 rs371840514 rs776490710 rs753594031 rs761147984 rs59959366 rs746485916 rs1412025509 rs778543794 rs764131178 rs587783309 rs374094065 rs376910645 rs76151636 rs1423701688 rs1206016866 rs1286080173 rs778825095 rs761632029 rs786204483 rs560952220 rs764041557 rs775541743 rs541208827 rs759109027 rs182659444 rs1801249 rs778749563 rs587783313 rs60431989 rs755554442 rs377297166 rs1330620114 rs867107727 rs777879359 rs749085322 rs756029120 rs137853279 rs1387431334 rs587783315 rs786204547 rs7334118 rs776280797 rs193922107 rs200911496 rs568009639 rs374628199 rs1277243795 rs587783316 rs372042739 rs769484789 rs121907992 rs1314712150 rs121907990 rs758355520 rs778914828 rs762866453 rs373748155 rs776300396 rs199821556 rs148399850 rs753044473 rs377144951 rs749380700 rs753330854 rs1131691741 rs779494870 rs587783317 rs587783318 rs1160679283 rs759551693 rs776848753 rs749171049 rs780811477 rs181250704 rs587783320 rs375692175 rs60986317 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Ribosomal frameshifting; Named isoforms=5;  Name=1; Synonyms=A; IsoId=P35670-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=P35670-2; Sequence=VSP_000426, VSP_000427; Name=3; IsoId=P35670-3; Sequence=VSP_016559; Name=4; IsoId=P35670-4; Sequence=VSP_016560; Note=No experimental confirmation available.; Name=5; IsoId=P35670-5; Sequence=VSP_059175; Note=May arise by a -1 programmed ribosomal frameshift at codon 233. A nucleotide 'slippery sequence' followed by an mRNA pseudoknot are found downstream of the frameshift site and direct frameshifting of a gene fragment with about 10% efficiency. {ECO:0000305|PubMed:28107647}; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:17919502, ECO:0000269|PubMed:19033537, ECO:0000269|PubMed:22240481, ECO:0000269|PubMed:24706876}; Multi-pass membrane protein {ECO:0000255}. Late endosome {ECO:0000269|PubMed:11231950, ECO:0000269|PubMed:15681833}. Note=Predominantly found in the trans-Golgi network (TGN). Localized in the trans-Golgi network under low copper conditions, redistributes to cytoplasmic vesicles when cells are exposed to elevated copper levels, and then recycles back to the trans-Golgi network when copper is removed (PubMed:10942420). {ECO:0000269|PubMed:10942420, ECO:0000269|PubMed:22240481, ECO:0000269|PubMed:24706876, ECO:0000269|PubMed:9307043}.; SUBCELLULAR LOCATION: Isoform 1: Golgi apparatus membrane {ECO:0000269|PubMed:9307043}; Multi-pass membrane protein {ECO:0000269|PubMed:9307043}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000269|PubMed:9307043}.; SUBCELLULAR LOCATION: WND/140 kDa: Mitochondrion {ECO:0000269|PubMed:9600907}.


uniprotID: Q99626
geneSymbol: CDX2
reactome: R-HSA-381771;
pdb: 5LTY;6ES2;6ES3;
name: Homeobox protein CDX-2 (CDX-3) (Caudal-type homeobox protein 2)
length: 313
go: ENSG00000165556;
snps: rs1805107
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
condensed nuclear chromosome [GO:0000794]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcriptional repressor complex [GO:0017053]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; methyl-CpG binding [GO:0008327]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription corepressor activity [GO:0003714]; animal organ morphogenesis [GO:0009887]; anterior/posterior pattern specification [GO:0009952]; blood vessel development [GO:0001568]; cell differentiation [GO:0030154]; endosome to lysosome transport [GO:0008333]; establishment or maintenance of epithelial cell apical/basal polarity [GO:0045197]; intestinal epithelial cell differentiation [GO:0060575]; labyrinthine layer development [GO:0060711]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of cell differentiation [GO:0045597]; positive regulation of cell proliferation [GO:0008284]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of somitogenesis [GO:0014807]; regulation of transcription by RNA polymerase II [GO:0006357]; somatic stem cell population maintenance [GO:0035019]; transcription by RNA polymerase II [GO:0006366]; trophectodermal cell differentiation [GO:0001829]


uniprotID: Q8NAS9
geneSymbol: C5orf17
name: Putative uncharacterized protein C5orf17
length: 161
sequence:
MPEPPTPSVGSCAARASRMSAAPCSRAPSPIDHPRAEECGRAARDWQAAPPAAPVRDPLGEASWAPESGEDMENLYVQLKLQSVGTCFNREELPSVLQWPQGEELGATSVTNKPGLSAMRKETDQQVGERKLTYCGDQVTLFTDQALSQILSSEEGRIKVM

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NAS9-1; 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=Q8NAS9-2; Sequence=VSP_026314; Note=No experimental confirmation available.; 


uniprotID: A6NDU8
geneSymbol: C5orf51
name: UPF0600 protein C5orf51
length: 294
go: ENSG00000205765;
opentargets: cytosol [GO:0005829]; nucleoplasm [GO:0005654]
snps: rs12520325
sequence:


uniprotID: A6NGY3
geneSymbol: C5orf52
name: Uncharacterized protein C5orf52
length: 159
go: ENSG00000187658;
sequence:
MTQPTRPSVTCDQGSSTIGGTAAQATTSSSATSGSNYQRDRLGRRPEIGVGGQPQICFPRPRSAQQPVLFSLMNSSEAAMKKTLPKSHLSRVIIHDNRITQRIYEMEVSALEKTKKKISHYYEHLKKKFMTEQLRKLGRWREESVNSNRYLTFGIPPPV


uniprotID: A6NFR6
geneSymbol: C5orf60
name: Putative uncharacterized protein C5orf60
length: 353
opentargets: integral component of membrane [GO:0016021]
snps: rs1319931 rs13168357
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=A6NFR6-1; Sequence=Displayed; Name=2; IsoId=A6NFR6-2; Sequence=VSP_034519, VSP_034520; Note=No experimental confirmation available.; Name=3; IsoId=A6NFR6-3; Sequence=VSP_038832, VSP_038833; Name=4; IsoId=A6NFR6-4; Sequence=VSP_041195, VSP_041196; 


uniprotID: Q9UPV0
geneSymbol: CEP164
reactome: R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-8854518;
name: Centrosomal protein of 164 kDa (Cep164)
length: 1460
go: ENSG00000110274;
snps: rs387907309 rs387907310 rs490262 rs2305830 rs573455
sequence:

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; ciliary transition fiber [GO:0097539]; cytosol [GO:0005829]; extracellular space [GO:0005615]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; cell division [GO:0051301]; ciliary basal body-plasma membrane docking [GO:0097711]; cilium assembly [GO:0060271]; DNA repair [GO:0006281]; G2/M transition of mitotic cell cycle [GO:0000086]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UPV0-1; Sequence=Displayed; Name=2; IsoId=Q9UPV0-2; Sequence=VSP_029843, VSP_029844; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:26337392}. Nucleus. Note=Localizes specifically to very distally located appendage structures on the mature centriole from which initiate PC formation (PubMed:26337392). Persisted at centrioles throughout mitosis. Expressed in chromatin-enriched nuclear fraction of HeLa cells. In response to DNA damage, it translocates to nuclear foci that contain the DNA damage response proteins KAT5/TIP60 and CHEK1. {ECO:0000269|PubMed:26337392}.


uniprotID: O15078
geneSymbol: CEP290
length: 2479
go: ENSG00000198707;
reactome:
R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-6798695;R-HSA-8854518;

name:
Centrosomal protein of 290 kDa (Cep290) (Bardet-Biedl syndrome 14 protein) (Cancer/testis antigen 87) (CT87) (Nephrocystin-6) (Tumor antigen se2-2)

sequence:

opentargets:
centriolar satellite [GO:0034451]; centriole [GO:0005814]; centrosome [GO:0005813]; ciliary basal body [GO:0036064]; ciliary transition zone [GO:0035869]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular region [GO:0005576]; membrane [GO:0016020]; MKS complex [GO:0036038]; nucleus [GO:0005634]; photoreceptor connecting cilium [GO:0032391]; protein-containing complex [GO:0032991]; specific granule lumen [GO:0035580]; identical protein binding [GO:0042802]; ciliary basal body-plasma membrane docking [GO:0097711]; cilium assembly [GO:0060271]; eye photoreceptor cell development [GO:0042462]; G2/M transition of mitotic cell cycle [GO:0000086]; hindbrain development [GO:0030902]; neutrophil degranulation [GO:0043312]; otic vesicle formation [GO:0030916]; positive regulation of intracellular protein transport [GO:0090316]; positive regulation of transcription, DNA-templated [GO:0045893]; pronephros development [GO:0048793]; protein transport [GO:0015031]; regulation of establishment of protein localization [GO:0070201]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]

snps:
rs62635288 rs45502896 rs895126773 rs79705698 rs11104738 rs7970228 rs7307793 rs11104729 rs117852025 rs374852145 rs373711746 rs77778467 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O15078-1; Sequence=Displayed; Name=2; IsoId=O15078-2; Sequence=VSP_021027; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:16682973, ECO:0000269|PubMed:21493627, ECO:0000269|PubMed:21565611, ECO:0000269|PubMed:22797915}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000269|PubMed:17705300, ECO:0000269|PubMed:21493627, ECO:0000269|PubMed:22797915, ECO:0000269|PubMed:23943788, ECO:0000269|PubMed:24121310}. Nucleus {ECO:0000250|UniProtKB:Q6A078}. Cell projection, cilium {ECO:0000269|PubMed:23943788}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q6A078}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:22797915}. Cytoplasmic vesicle {ECO:0000303|PubMed:24051377}. Note=Displaced from centriolar satellites in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock (PubMed:24121310). Found in the connecting cilium of photoreceptor cells, base of cilium in kidney intramedullary collecting duct cells (By similarity). Localizes at the transition zone, a region between the basal body and the ciliary axoneme (PubMed:23943788). Localization at the ciliary transition zone as well as at centriolar satellites is BBsome-dependent (PubMed:23943788). {ECO:0000250|UniProtKB:Q6A078, ECO:0000269|PubMed:23943788, ECO:0000269|PubMed:24121310}.


uniprotID: Q8TBG4
geneSymbol: ETNPPL
reactome: R-HSA-1483213;
name: Ethanolamine-phosphate phospho-lyase (EC 4.2.3.2) (Alanine--glyoxylate aminotransferase 2-like 1)
length: 499
go: ENSG00000164089;
snps: rs1377210
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
sequence:

opentargets:
mitochondrial matrix [GO:0005759]; ethanolamine-phosphate phospho-lyase activity [GO:0050459]; pyridoxal phosphate binding [GO:0030170]; transaminase activity [GO:0008483]; phosphatidylethanolamine biosynthetic process [GO:0006646]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8TBG4-1; Sequence=Displayed; Name=2; IsoId=Q8TBG4-2; Sequence=VSP_025583; Name=3; IsoId=Q8TBG4-3; Sequence=VSP_046097; Note=No experimental confirmation available.; 


uniprotID: P98196
geneSymbol: ATP11A
reactome: R-HSA-6798695;R-HSA-936837;
length: 1134
go: ENSG00000068650;
snps: rs368865 rs11616795
name:
Probable phospholipid-transporting ATPase IH (EC 7.6.2.1) (ATPase IS) (ATPase class VI type 11A) (P4-ATPase flippase complex alpha subunit ATP11A)

sequence:

opentargets:
early endosome [GO:0005769]; endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; plasma membrane [GO:0005886]; recycling endosome [GO:0055037]; specific granule membrane [GO:0035579]; tertiary granule membrane [GO:0070821]; trans-Golgi network [GO:0005802]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; phospholipid-translocating ATPase activity [GO:0004012]; neutrophil degranulation [GO:0043312]; phospholipid translocation [GO:0045332]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21914794}; Multi-pass membrane protein {ECO:0000269|PubMed:21914794}. Early endosome {ECO:0000269|PubMed:21914794}. Recycling endosome {ECO:0000269|PubMed:21914794}. Endoplasmic reticulum {ECO:0000269|PubMed:21914794}. Note=Exit from the endoplasmic reticulum requires the presence of TMEM30A, but not TMEM30B. In the presence of TMEM30A, predominantly located in the plasma membrane.


uniprotID: Q5T9A4
geneSymbol: ATAD3B
reactome: R-HSA-6798695;
name: ATPase family AAA domain-containing protein 3B (AAA-TOB3)
length: 648
go: ENSG00000160072;
snps: rs1240504
sequence:

opentargets:
ficolin-1-rich granule membrane [GO:0101003]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; ATP binding [GO:0005524]; zinc ion binding [GO:0008270]; mitochondrion organization [GO:0007005]; neutrophil degranulation [GO:0043312]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=AAA-TOB3l; IsoId=Q5T9A4-1; Sequence=Displayed; Name=2; IsoId=Q5T9A4-2; Sequence=VSP_015637, VSP_015640, VSP_015641, VSP_015642; Note=No experimental confirmation available.; Name=3; Synonyms=AAA-TOB3s; IsoId=Q5T9A4-3; Sequence=VSP_015638, VSP_015639; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:16909202, ECO:0000269|PubMed:18063578}; Peripheral membrane protein {ECO:0000269|PubMed:16909202, ECO:0000269|PubMed:18063578}. Note=Has been found to co-purify with nucleoids (PubMed:22453275). Since it does not face the mitochondrial matrix, the association with nucleoids could be mediated by ATAD3A. {ECO:0000269|PubMed:22453275}.


uniprotID: Q8WYN0
geneSymbol: ATG4A
reactome: R-HSA-1632852;
pdb: 2FUY;2P82;
length: 398
go: ENSG00000101844;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Cysteine protease ATG4A (EC 3.4.22.-) (AUT-like 2 cysteine endopeptidase) (Autophagin-2) (Autophagy-related cysteine endopeptidase 2) (Autophagy-related protein 4 homolog A) (hAPG4A)

sequence:

opentargets:
cytoplasm [GO:0005737]; cysteine-type endopeptidase activity [GO:0004197]; cysteine-type peptidase activity [GO:0008234]; autophagosome assembly [GO:0000045]; protein delipidation [GO:0051697]; protein transport [GO:0015031]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8WYN0-1; Sequence=Displayed; Name=2; IsoId=Q8WYN0-2; Sequence=VSP_013025; Name=3; IsoId=Q8WYN0-3; Sequence=VSP_025902; Note=No experimental confirmation available.; Name=4; IsoId=Q8WYN0-5; Sequence=VSP_030499; Note=Gene prediction based on EST data.; 


uniprotID: Q96DT6
geneSymbol: ATG4C
reactome: R-HSA-1632852;
length: 458
go: ENSG00000125703;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Cysteine protease ATG4C (EC 3.4.22.-) (AUT-like 3 cysteine endopeptidase) (Autophagin-3) (Autophagy-related cysteine endopeptidase 3) (Autophagy-related protein 4 homolog C)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular region [GO:0005576]; cysteine-type endopeptidase activity [GO:0004197]; peptidase activity [GO:0008233]; autophagosome assembly [GO:0000045]; autophagy [GO:0006914]; protein targeting to membrane [GO:0006612]; proteolysis [GO:0006508]


uniprotID: P50613
geneSymbol: CDK7
pdb: 1LG3;1PA8;1UA2;2HIC;
length: 346
go: ENSG00000134058;
drug: DB03496;DB02482;
snps: rs34584424
reactome:
R-HSA-112382;R-HSA-113418;R-HSA-167152;R-HSA-167158;R-HSA-167160;R-HSA-167161;R-HSA-167162;R-HSA-167172;R-HSA-167200;R-HSA-167246;R-HSA-427413;R-HSA-5696395;R-HSA-674695;R-HSA-6781823;R-HSA-6781827;R-HSA-6782135;R-HSA-6782210;R-HSA-6796648;R-HSA-6807505;R-HSA-69202;R-HSA-69231;R-HSA-69273;R-HSA-69656;R-HSA-72086;R-HSA-73762;R-HSA-73772;R-HSA-73776;R-HSA-73777;R-HSA-73779;R-HSA-73863;R-HSA-75953;R-HSA-75955;R-HSA-76042;R-HSA-77075;R-HSA-8939236;

name:
Cyclin-dependent kinase 7 (EC 2.7.11.22) (EC 2.7.11.23) (39 kDa protein kinase) (p39 Mo15) (CDK-activating kinase 1) (Cell division protein kinase 7) (Serine/threonine-protein kinase 1) (TFIIH basal transcription factor complex kinase subunit)

sequence:

opentargets:
cyclin-dependent protein kinase activating kinase holoenzyme complex [GO:0019907]; cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; transcription factor TFIIH holo complex [GO:0005675]; transcription factor TFIIK complex [GO:0070985]; androgen receptor binding [GO:0050681]; ATP binding [GO:0005524]; cyclin-dependent protein serine/threonine kinase activity [GO:0004693]; DNA-dependent ATPase activity [GO:0008094]; kinase activity [GO:0016301]; protein C-terminus binding [GO:0008022]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; RNA polymerase II CTD heptapeptide repeat kinase activity [GO:0008353]; transcription coactivator activity [GO:0003713]; 7-methylguanosine mRNA capping [GO:0006370]; androgen receptor signaling pathway [GO:0030521]; cell cycle arrest [GO:0007050]; cell division [GO:0051301]; cell proliferation [GO:0008283]; nucleotide-excision repair, preincision complex assembly [GO:0006294]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; protein phosphorylation [GO:0006468]; protein stabilization [GO:0050821]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; snRNA transcription by RNA polymerase II [GO:0042795]; termination of RNA polymerase I transcription [GO:0006363]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase II promoter [GO:0006368]; transcription initiation from RNA polymerase I promoter [GO:0006361]; transcription initiation from RNA polymerase II promoter [GO:0006367]; transcription-coupled nucleotide-excision repair [GO:0006283]

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Cytoplasm, perinuclear region. Note=Colocalizes with PRKCI in the cytoplasm and nucleus. Translocates from the nucleus to cytoplasm and perinuclear region in response to DNA-bound peptides.


uniprotID: P18859
geneSymbol: ATP5PF
reactome: R-HSA-163210;R-HSA-8949613;
length: 108
go: ENSG00000154723;
location: SUBCELLULAR LOCATION: Mitochondrion. Mitochondrion inner membrane.
name:
ATP synthase-coupling factor 6, mitochondrial (ATPase subunit F6) (ATP synthase peripheral stalk subunit F6)

sequence:
MILQRLFRFSSVIRSAVSVHLRRNIGVTAVAFNKELDPIQKLFVDKIREYKSKRQTSGGPVDASSEYQQELERELFKLKQMFGNADMNTFPTFKFEDPKFEVIEKPQA

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial proton-transporting ATP synthase complex [GO:0005753]; mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) [GO:0000276]; mitochondrion [GO:0005739]; proton transmembrane transporter activity [GO:0015078]; transmembrane transporter activity [GO:0022857]; transporter activity [GO:0005215]; ATP biosynthetic process [GO:0006754]; cristae formation [GO:0042407]; mitochondrial ATP synthesis coupled proton transport [GO:0042776]; substantia nigra development [GO:0021762]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P18859-1; Sequence=Displayed; Name=2; IsoId=P18859-2; Sequence=VSP_046187; 


uniprotID: Q92772
geneSymbol: CDKL2
pdb: 4AAA;4BBM;
length: 493
go: ENSG00000138769;
snps: rs35921414 rs17000707 rs755711267 rs56343717 rs56231363
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9000130}. Nucleus {ECO:0000269|PubMed:9000130}.
name:
Cyclin-dependent kinase-like 2 (EC 2.7.11.22) (Protein kinase p56 KKIAMRE) (Serine/threonine-protein kinase KKIAMRE)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; nucleus [GO:0005634]; ATP binding [GO:0005524]; cyclin-dependent protein serine/threonine kinase activity [GO:0004693]; protein kinase activity [GO:0004672]; protein phosphorylation [GO:0006468]; sex differentiation [GO:0007548]; signal transduction [GO:0007165]


uniprotID: O75964
geneSymbol: ATP5MG
reactome: R-HSA-163210;R-HSA-8949613;
name: ATP synthase subunit g, mitochondrial (ATPase subunit g) (ATP synthase membrane subunit g)
length: 103
go: ENSG00000167283;
location: SUBCELLULAR LOCATION: Mitochondrion. Mitochondrion inner membrane.
sequence:
MAQFVRNLVEKTPALVNAAVTYSKPRLATFWYYAKVELVPPTPAEIPRAIQSLKKIVNSAQTGSFKQLTVKEAVLNGLVATEVLMWFYVGEIIGKRGIIGYDV

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial proton-transporting ATP synthase complex [GO:0005753]; mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) [GO:0000276]; mitochondrion [GO:0005739]; 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]


uniprotID: Q01850
geneSymbol: CDR2
length: 454
go: ENSG00000140743;
opentargets: cytoplasm [GO:0005737]
name:
Cerebellar degeneration-related protein 2 (Major Yo paraneoplastic antigen) (Paraneoplastic cerebellar degeneration-associated antigen)

sequence:


uniprotID: Q92903
geneSymbol: CDS1
reactome: R-HSA-1483226;
length: 461
go: ENSG00000163624;
snps: rs36068434
name:
Phosphatidate cytidylyltransferase 1 (EC 2.7.7.41) (CDP-DAG synthase 1) (CDP-DG synthase 1) (CDP-diacylglycerol synthase 1) (CDS 1) (CDP-diglyceride pyrophosphorylase 1) (CDP-diglyceride synthase 1) (CTP:phosphatidate cytidylyltransferase 1)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; diacylglycerol cholinephosphotransferase activity [GO:0004142]; phosphatidate cytidylyltransferase activity [GO:0004605]; CDP-diacylglycerol biosynthetic process [GO:0016024]; phosphatidylinositol biosynthetic process [GO:0006661]; phototransduction [GO:0007602]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Note=Cytoplasmic aspect of the endoplasmic reticulum. {ECO:0000250}.


uniprotID: Q15517
geneSymbol: CDSN
reactome: R-HSA-6809371;
name: Corneodesmosin (S protein)
length: 529
snps: rs3095318 rs7742033 rs3130984 rs6457328 rs707913 rs33941312 rs1042127 rs3132554 rs3130981
sequence:

opentargets:
cell-cell junction [GO:0005911]; cornified envelope [GO:0001533]; desmosome [GO:0030057]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]; protein homodimerization activity [GO:0042803]; cell adhesion [GO:0007155]; cell-cell adhesion [GO:0098609]; corneocyte desquamation [GO:0003336]; cornification [GO:0070268]; epidermis development [GO:0008544]; keratinocyte differentiation [GO:0030216]; negative regulation of cornification [GO:1905716]; skin morphogenesis [GO:0043589]

location:
SUBCELLULAR LOCATION: Secreted. Note=Found in corneodesmosomes, the intercellular structures that are involved in desquamation.


uniprotID: P98198
geneSymbol: ATP8B2
reactome: R-HSA-936837;
length: 1209
go: ENSG00000143515;
name:
Phospholipid-transporting ATPase ID (EC 7.6.2.1) (ATPase class I type 8B member 2) (P4-ATPase flippase complex alpha subunit ATP8B2)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; 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]; Golgi organization [GO:0007030]; ion transmembrane transport [GO:0034220]; phospholipid translocation [GO:0045332]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P98198-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=P98198-2; Sequence=VSP_007302, VSP_007303; Name=3; IsoId=P98198-3; Sequence=VSP_037147; Name=4; IsoId=P98198-4; Sequence=VSP_037148, VSP_037149, VSP_037150; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:20947505, ECO:0000269|PubMed:20961850}; Multi-pass membrane protein {ECO:0000255}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:20961850}; Multi-pass membrane protein {ECO:0000255}. Note=TMEM30A, but not TMEM30B, is required for its export from endoplasmic reticulum to the plasma membrane. {ECO:0000269|PubMed:20961850}.


uniprotID: Q8NBU5
geneSymbol: ATAD1
name: ATPase family AAA domain-containing protein 1 (EC 3.6.1.3) (Thorase)
length: 361
go: ENSG00000138138;
sequence:

opentargets:
cell junction [GO:0030054]; glutamatergic synapse [GO:0098978]; membrane [GO:0016020]; peroxisomal membrane [GO:0005778]; postsynaptic membrane [GO:0045211]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; learning [GO:0007612]; memory [GO:0007613]; negative regulation of synaptic transmission, glutamatergic [GO:0051967]; positive regulation of receptor internalization [GO:0002092]; regulation of postsynaptic neurotransmitter receptor internalization [GO:0099149]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NBU5-1; Sequence=Displayed; Name=2; IsoId=Q8NBU5-2; Sequence=VSP_037304; 

location:
SUBCELLULAR LOCATION: Peroxisome {ECO:0000250|UniProtKB:Q9D5T0}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250|UniProtKB:Q9D5T0}.


uniprotID: Q9UN42
geneSymbol: ATP1B4
reactome: R-HSA-2173796;
name: Protein ATP1B4 (X,K-ATPase subunit beta-m) (X/potassium-transporting ATPase subunit beta-m)
length: 357
go: ENSG00000101892;
snps: rs2072452
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; nuclear envelope [GO:0005635]; nuclear inner membrane [GO:0005637]; nucleus [GO:0005634]; sodium:potassium-exchanging ATPase complex [GO:0005890]; monovalent inorganic cation transmembrane transporter activity [GO:0015077]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=A; IsoId=Q9UN42-1; Sequence=Displayed; Name=B; IsoId=Q9UN42-2; Sequence=VSP_000351; 

location:
SUBCELLULAR LOCATION: Nucleus inner membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}. Note=Detected in nuclear envelops. {ECO:0000269|PubMed:14656723, ECO:0000269|PubMed:17592128}.


uniprotID: P24941
geneSymbol: CDK2
name: Cyclin-dependent kinase 2 (EC 2.7.11.22) (Cell division protein kinase 2) (p33 protein kinase)
length: 298
go: ENSG00000123374;
snps: rs3087335 rs11554376 rs2069413
reactome:
R-HSA-1538133;R-HSA-176187;R-HSA-176408;R-HSA-187577;R-HSA-2559582;R-HSA-2559586;R-HSA-5693607;R-HSA-6804116;R-HSA-6804756;R-HSA-6804757;R-HSA-68911;R-HSA-68949;R-HSA-68962;R-HSA-69017;R-HSA-69200;R-HSA-69202;R-HSA-69273;R-HSA-69563;R-HSA-69656;R-HSA-8849470;R-HSA-912446;R-HSA-983231;

pdb:
1AQ1;1B38;1B39;1BUH;1CKP;1DI8;1DM2;1E1V;1E1X;1E9H;1F5Q;1FIN;1FQ1;1FVT;1FVV;1G5S;1GIH;1GII;1GIJ;1GY3;1GZ8;1H00;1H01;1H07;1H08;1H0V;1H0W;1H1P;1H1Q;1H1R;1H1S;1H24;1H25;1H26;1H27;1H28;1HCK;1HCL;1JST;1JSU;1JSV;1JVP;1KE5;1KE6;1KE7;1KE8;1KE9;1OGU;1OI9;1OIQ;1OIR;1OIT;1OIU;1OIY;1OKV;1OKW;1OL1;1OL2;1P2A;1P5E;1PF8;1PKD;1PW2;1PXI;1PXJ;1PXK;1PXL;1PXM;1PXN;1PXO;1PXP;1PYE;1QMZ;1R78;1URC;1URW;1V1K;1VYW;1VYZ;1W0X;1W8C;1W98;1WCC;1Y8Y;1Y91;1YKR;2A0C;2A4L;2B52;2B53;2B54;2B55;2BHE;2BHH;2BKZ;2BPM;2BTR;2BTS;2C4G;2C5N;2C5O;2C5V;2C5X;2C5Y;2C68;2C69;2C6I;2C6K;2C6L;2C6M;2C6O;2C6T;2CCH;2CCI;2CJM;2CLX;2DS1;2DUV;2EXM;2FVD;2G9X;2HIC;2I40;2IW6;2IW8;2IW9;2J9M;2JGZ;2R3F;2R3G;2R3H;2R3I;2R3J;2R3K;2R3L;2R3M;2R3N;2R3O;2R3P;2R3Q;2R3R;2R64;2UUE;2UZB;2UZD;2UZE;2UZL;2UZN;2UZO;2V0D;2V22;2VTA;2VTH;2VTI;2VTJ;2VTL;2VTM;2VTN;2VTO;2VTP;2VTQ;2VTR;2VTS;2VTT;2VU3;2VV9;2W05;2W06;2W17;2W1H;2WEV;2WFY;2WHB;2WIH;2WIP;2WMA;2WMB;2WPA;2WXV;2X1N;2XMY;2XNB;3BHT;3BHU;3BHV;3DDP;3DDQ;3DOG;3EID;3EJ1;3EOC;3EZR;3EZV;3F5X;3FZ1;3IG7;3IGG;3LE6;3LFN;3LFQ;3LFS;3MY5;3NS9;3PJ8;3PXF;3PXQ;3PXR;3PXY;3PXZ;3PY0;3PY1;3QHR;3QHW;3QL8;3QQF;3QQG;3QQH;3QQJ;3QQK;3QQL;3QRT;3QRU;3QTQ;3QTR;3QTS;3QTU;3QTW;3QTX;3QTZ;3QU0;3QWJ;3QWK;3QX2;3QX4;3QXO;3QXP;3QZF;3QZG;3QZH;3QZI;3R1Q;3R1S;3R1Y;3R28;3R6X;3R71;3R73;3R7E;3R7I;3R7U;3R7V;3R7Y;3R83;3R8L;3R8M;3R8P;3R8U;3R8V;3R8Z;3R9D;3R9H;3R9N;3R9O;3RAH;3RAI;3RAK;3RAL;3RJC;3RK5;3RK7;3RK9;3RKB;3RM6;3RM7;3RMF;3RNI;3ROY;3RPO;3RPR;3RPV;3RPY;3RZB;3S00;3S0O;3S1H;3S2P;3SQQ;3SW4;3SW7;3TI1;3TIY;3TIZ;3TNW;3ULI;3UNJ;3UNK;3WBL;4ACM;4BCK;4BCM;4BCN;4BCO;4BCP;4BCQ;4BGH;4BZD;4CFM;4CFN;4CFU;4CFV;4CFW;4CFX;4D1X;4D1Z;4EK3;4EK4;4EK5;4EK6;4EK8;4EOI;4EOJ;4EOK;4EOL;4EOM;4EON;4EOO;4EOP;4EOQ;4EOR;4EOS;4ERW;4EZ3;4EZ7;4FKG;4FKI;4FKJ;4FKL;4FKO;4FKP;4FKQ;4FKR;4FKS;4FKT;4FKU;4FKV;4FKW;4FX3;4GCJ;4I3Z;4II5;4KD1;4LYN;4NJ3;4RJ3;5A14;5AND;5ANE;5ANG;5ANI;5ANJ;5ANK;5ANO;5CYI;5D1J;5FP5;5FP6;5IEV;5IEX;5IEY;5IF1;5JQ5;5JQ8;5K4J;5L2W;5LMK;5MHQ;5NEV;5OO0;5OO1;5OO3;5OSJ;5OSM;5UQ1;5UQ2;5UQ3;6ATH;

sequence:

opentargets:
Cajal body [GO:0015030]; centrosome [GO:0005813]; chromosome, telomeric region [GO:0000781]; condensed chromosome [GO:0000793]; cyclin A1-CDK2 complex [GO:0097123]; cyclin A2-CDK2 complex [GO:0097124]; cyclin E1-CDK2 complex [GO:0097134]; cyclin E2-CDK2 complex [GO:0097135]; cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endosome [GO:0005768]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; X chromosome [GO:0000805]; Y chromosome [GO:0000806]; ATP binding [GO:0005524]; cyclin binding [GO:0030332]; cyclin-dependent protein kinase activity [GO:0097472]; cyclin-dependent protein serine/threonine kinase activity [GO:0004693]; magnesium ion binding [GO:0000287]; protein domain specific binding [GO:0019904]; protein serine/threonine kinase activity [GO:0004674]; anaphase-promoting complex-dependent catabolic process [GO:0031145]; cell division [GO:0051301]; cellular response to nitric oxide [GO:0071732]; centriole replication [GO:0007099]; centrosome duplication [GO:0051298]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; DNA repair [GO:0006281]; DNA replication [GO:0006260]; G1/S transition of mitotic cell cycle [GO:0000082]; G2/M transition of mitotic cell cycle [GO:0000086]; histone phosphorylation [GO:0016572]; meiotic cell cycle [GO:0051321]; mitotic G1 DNA damage checkpoint [GO:0031571]; negative regulation of transcription by RNA polymerase II [GO:0000122]; peptidyl-serine phosphorylation [GO:0018105]; positive regulation of cell proliferation [GO:0008284]; positive regulation of DNA-dependent DNA replication initiation [GO:0032298]; positive regulation of transcription, DNA-templated [GO:0045893]; potassium ion transport [GO:0006813]; protein phosphorylation [GO:0006468]; Ras protein signal transduction [GO:0007265]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; regulation of gene silencing [GO:0060968]; regulation of signal transduction by p53 class mediator [GO:1901796]

drug:
DB07054;DB07504;DB08463;DB07501;DB07137;DB08137;DB02603;DB04288;DB02297;DB06948;DB07982;DB08248;DB08309;DB02973;DB08241;DB08136;DB03307;DB08134;DB04407;DB07791;DB08572;DB07163;DB08132;DB02898;DB07612;DB08247;DB07203;DB08233;DB02407;DB02833;DB05037;DB06616;DB03496;DB02950;DB02052;DB03801;DB07790;DB06944;DB08768;DB08133;DB07936;DB02647;DB08677;DB08066;DB08135;DB07126;DB02116;DB04662;DB02733;DB02010;DB03428;DB04669;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P24941-1; Sequence=Displayed; Name=2; Synonyms=CDK2deltaT; IsoId=P24941-2; Sequence=VSP_041998; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Nucleus, Cajal body. Cytoplasm. Endosome. Note=Localized at the centrosomes in late G2 phase after separation of the centrosomes but before the start of prophase. Nuclear-cytoplasmic trafficking is mediated during the inhibition by 1,25-(OH)(2)D(3).


uniprotID: P00846
geneSymbol: MT-ATP6
reactome: R-HSA-163210;R-HSA-8949613;
name: ATP synthase subunit a (F-ATPase protein 6)
length: 226
go: ENSG00000198899;
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial proton-transporting ATP synthase complex [GO:0005753]; proton-transporting ATP synthase complex, coupling factor F(o) [GO:0045263]; proton transmembrane transporter activity [GO:0015078]; transmembrane transporter activity [GO:0022857]; aging [GO:0007568]; ATP biosynthetic process [GO:0006754]; cristae formation [GO:0042407]; mitochondrial ATP synthesis coupled proton transport [GO:0042776]; response to hyperoxia [GO:0055093]

snps:
rs3020563 rs28502681 rs201336180 rs2000975 rs878959404 rs2298007 rs2001031 rs201123510 rs386829057 rs200329150 rs794726857 rs199476133 rs199476133 rs9645429 rs199476134 rs2298010 rs199476135 rs199476138 


uniprotID: P17544
geneSymbol: ATF7
length: 494
go: ENSG00000170653;
drug: DB00852;
name:
Cyclic AMP-dependent transcription factor ATF-7 (cAMP-dependent transcription factor ATF-7) (Activating transcription factor 7) (Transcription factor ATF-A)

sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear periphery [GO:0034399]; 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]; enzyme binding [GO:0019899]; metal ion binding [GO:0046872]; mitogen-activated protein kinase binding [GO:0051019]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription factor binding [GO:0008134]; negative regulation of transcription by RNA polymerase II [GO:0000122]; regulation of transcription, DNA-templated [GO:0006355]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=3; Synonyms=ATF-A1; IsoId=P17544-1; Sequence=Displayed; Name=1; Synonyms=ATF-A; IsoId=P17544-2; Sequence=VSP_000594, VSP_000595; Name=2; Synonyms=ATF-A-delta; IsoId=P17544-3; Sequence=VSP_000595; Name=4; Synonyms=ATF-A0; IsoId=P17544-4; Sequence=VSP_000594, VSP_034543; Name=5; Synonyms=ATF-4; IsoId=P17544-5; Sequence=VSP_042469; Name=6; IsoId=P17544-6; Sequence=VSP_000594; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00978, ECO:0000269|PubMed:17264123}. Nucleus, nucleoplasm {ECO:0000269|PubMed:17264123}. Note=Mainly nucleoplasmic. Restricted distribution to the perinuculear region. The sumoylated form locates to the nuclear periphery.; SUBCELLULAR LOCATION: Isoform 5: Cytoplasm {ECO:0000269|PubMed:21858082}.


uniprotID: P49918
geneSymbol: CDKN1C
reactome: R-HSA-69231;
name: Cyclin-dependent kinase inhibitor 1C (Cyclin-dependent kinase inhibitor p57) (p57Kip2)
length: 316
go: ENSG00000129757;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; cyclin-dependent protein serine/threonine kinase inhibitor activity [GO:0004861]; protein kinase inhibitor activity [GO:0004860]; protein-containing complex binding [GO:0044877]; adrenal gland development [GO:0030325]; aging [GO:0007568]; camera-type eye development [GO:0043010]; cell cycle arrest [GO:0007050]; digestive system development [GO:0055123]; embryonic placenta morphogenesis [GO:0060669]; genetic imprinting [GO:0071514]; kidney development [GO:0001822]; multicellular organism growth [GO:0035264]; myeloid cell differentiation [GO:0030099]; negative regulation of cyclin-dependent protein kinase activity [GO:1904030]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of kinase activity [GO:0033673]; negative regulation of phosphorylation [GO:0042326]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; neuron maturation [GO:0042551]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of transforming growth factor beta receptor signaling pathway [GO:0030511]; regulation of exit from mitosis [GO:0007096]; regulation of lens fiber cell differentiation [GO:1902746]; skeletal system development [GO:0001501]; uterus development [GO:0060065]

snps:
rs483352966 rs483352968 rs483352969 rs483352970 rs483352981 rs772704243 rs387907225 rs387907224 rs387907223 rs387907226 rs318240750 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=P49918-1; Sequence=Displayed; Name=Short; IsoId=P49918-2; Sequence=VSP_000867; 


uniprotID: Q8N9R6
geneSymbol: CDRT4
name: CMT1A duplicated region transcript 4 protein
length: 151
snps: rs3744332 rs2954759
sequence:
MDARRMKKEGLTENTGLPRKLLEKHDPWPAYVTYTSQTVKRLIEKSKTRELECMRALEERPWASRQNKPSSVIQPKRRKSSKSSGKAVFRDTLSESTLSMWGAYSVLAMAPTMIPEPTHLHADSRDCPTENYNKIIFARKPMMRMLPTVRY


uniprotID: Q16515
geneSymbol: ASIC2
reactome: R-HSA-2672351;
length: 512
go: ENSG00000108684;
drug: DB00594;
snps: rs16967895
name:
Acid-sensing ion channel 2 (ASIC2) (Amiloride-sensitive brain sodium channel) (Amiloride-sensitive cation channel 1, neuronal) (Amiloride-sensitive cation channel neuronal 1) (Brain sodium channel 1) (BNC1) (BNaC1) (Mammalian degenerin homolog) (MDEG)

sequence:

opentargets:
dendritic spine [GO:0043197]; integral component of plasma membrane [GO:0005887]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; acid-sensing ion channel activity [GO:0044736]; ligand-gated sodium channel activity [GO:0015280]; central nervous system development [GO:0007417]; chemical synaptic transmission [GO:0007268]; detection of mechanical stimulus involved in sensory perception [GO:0050974]; ion transmembrane transport [GO:0034220]; monovalent inorganic cation transport [GO:0015672]; negative regulation of apoptotic process [GO:0043066]; peripheral nervous system development [GO:0007422]; phototransduction [GO:0007602]; positive regulation of synapse assembly [GO:0051965]; protein localization to synapse [GO:0035418]; regulation of ion transmembrane transport [GO:0034765]; regulation of membrane potential [GO:0042391]; regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback [GO:0003026]; regulation of vasoconstriction [GO:0019229]; response to acidic pH [GO:0010447]; sensory perception of sound [GO:0007605]; sensory perception of sour taste [GO:0050915]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Asic2a {ECO:0000303|PubMed:10842183}; IsoId=Q16515-1; Sequence=Displayed; Name=2; Synonyms=Asic2b, MDEG2; IsoId=Q16515-2; Sequence=VSP_015590, VSP_015591; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Note=Localized at the plasma membrane of neurons, in the soma and punctated peripheral processes. {ECO:0000250}.


uniprotID: O94921
geneSymbol: CDK14
length: 469
go: ENSG00000058091;
snps: rs773301216 rs35643773
name:
Cyclin-dependent kinase 14 (EC 2.7.11.22) (Cell division protein kinase 14) (Serine/threonine-protein kinase PFTAIRE-1) (hPFTAIRE1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic cyclin-dependent protein kinase holoenzyme complex [GO:0000308]; cytosol [GO:0005829]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; cyclin binding [GO:0030332]; cyclin-dependent protein serine/threonine kinase activity [GO:0004693]; cell division [GO:0051301]; G2/M transition of mitotic cell cycle [GO:0000086]; protein phosphorylation [GO:0006468]; regulation of canonical Wnt signaling pathway [GO:0060828]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O94921-1; Sequence=Displayed; Name=2; IsoId=O94921-2; Sequence=VSP_004803; Name=3; IsoId=O94921-3; Sequence=VSP_038762; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein. Cytoplasm. Nucleus. Note=Recruited to the cell membrane by CCNY.


uniprotID: O75185
geneSymbol: ATP2C2
reactome: R-HSA-936837;
length: 946
go: ENSG00000064270;
snps: rs247818 rs2303853 rs247897 rs62640926 rs16973859
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Calcium-transporting ATPase type 2C member 2 (ATPase 2C2) (EC 3.6.3.8) (Secretory pathway Ca(2+)-ATPase 2)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; ATP binding [GO:0005524]; calcium-transporting ATPase activity [GO:0005388]; manganese-transporting ATPase activity [GO:0015410]; metal ion binding [GO:0046872]; proton-exporting ATPase activity, phosphorylative mechanism [GO:0008553]; calcium ion transmembrane transport [GO:0070588]; cellular calcium ion homeostasis [GO:0006874]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O75185-1; Sequence=Displayed; Name=2; IsoId=O75185-2; Sequence=VSP_035989; Name=3; IsoId=O75185-3; Sequence=VSP_054679; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: O94823
geneSymbol: ATP10B
reactome: R-HSA-936837;
length: 1461
go: ENSG00000118322;
snps: rs958912
name:
Probable phospholipid-transporting ATPase VB (EC 7.6.2.1) (ATPase class V type 10B) (P4-ATPase flippase complex alpha subunit ATP10B)

sequence:

opentargets:
cytoplasmic vesicle membrane [GO:0030659]; 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]; phospholipid translocation [GO:0045332]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=A; IsoId=O94823-1; Sequence=Displayed; Name=B; IsoId=O94823-2; Sequence=VSP_007306, VSP_007307; Note=No experimental confirmation available.; Name=C; IsoId=O94823-3; Sequence=VSP_007305, VSP_007306, VSP_007307; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane. Note=Exit from the endoplasmic reticulum requires the presence of TMEM30A, but not TMEM30B.


uniprotID: Q8IXJ9
geneSymbol: ASXL1
reactome: R-HSA-5689603;
name: Putative Polycomb group protein ASXL1 (Additional sex combs-like protein 1)
length: 1541
go: ENSG00000171456;
snps: rs6058693 rs6058694 rs34359205 rs6057581
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; PR-DUB complex [GO:0035517]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; metal ion binding [GO:0046872]; peroxisome proliferator activated receptor binding [GO:0042975]; retinoic acid receptor binding [GO:0042974]; transcription coactivator activity [GO:0003713]; animal organ morphogenesis [GO:0009887]; bone marrow development [GO:0048539]; cell morphogenesis [GO:0000902]; heart morphogenesis [GO:0003007]; hemopoiesis [GO:0030097]; homeostasis of number of cells [GO:0048872]; lung saccule development [GO:0060430]; monoubiquitinated histone H2A deubiquitination [GO:0035522]; negative regulation of fat cell differentiation [GO:0045599]; negative regulation of peroxisome proliferator activated receptor signaling pathway [GO:0035359]; positive regulation of retinoic acid receptor signaling pathway [GO:0048386]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein deubiquitination [GO:0016579]; response to retinoic acid [GO:0032526]; thymus development [GO:0048538]; transcription, DNA-templated [GO:0006351]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IXJ9-1; Sequence=Displayed; Name=2; IsoId=Q8IXJ9-2; Sequence=VSP_007219, VSP_007220; Note=Derived from EST data. No experimental confirmation available.; 


uniprotID: P06493
geneSymbol: CDK1
pdb: 1LC9;4Y72;4YC3;4YC6;5HQ0;5LQF;
length: 297
go: ENSG00000170312;
drug: DB04014;DB05037;DB03496;DB02950;DB02052;DB02116;DB03428;
reactome:
R-HSA-110056;R-HSA-113507;R-HSA-1362300;R-HSA-162658;R-HSA-170145;R-HSA-174048;R-HSA-174184;R-HSA-176408;R-HSA-176412;R-HSA-176417;R-HSA-2299718;R-HSA-2465910;R-HSA-2500257;R-HSA-2514853;R-HSA-2565942;R-HSA-2980767;R-HSA-3301854;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-4419969;R-HSA-539107;R-HSA-5620912;R-HSA-5687128;R-HSA-5689896;R-HSA-6804114;R-HSA-6804757;R-HSA-68875;R-HSA-69273;R-HSA-69478;R-HSA-75035;R-HSA-8852276;R-HSA-8854518;R-HSA-8878166;

name:
Cyclin-dependent kinase 1 (CDK1) (EC 2.7.11.22) (EC 2.7.11.23) (Cell division control protein 2 homolog) (Cell division protein kinase 1) (p34 protein kinase)

sequence:

opentargets:
centrosome [GO:0005813]; cyclin B1-CDK1 complex [GO:0097125]; cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; midbody [GO:0030496]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; mitotic spindle [GO:0072686]; nuclear chromosome, telomeric region [GO:0000784]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spindle microtubule [GO:0005876]; ATP binding [GO:0005524]; chromatin binding [GO:0003682]; cyclin binding [GO:0030332]; cyclin-dependent protein kinase activity [GO:0097472]; cyclin-dependent protein serine/threonine kinase activity [GO:0004693]; histone kinase activity [GO:0035173]; Hsp70 protein binding [GO:0030544]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; RNA polymerase II CTD heptapeptide repeat kinase activity [GO:0008353]; virus receptor activity [GO:0001618]; activation of MAPK activity [GO:0000187]; anaphase-promoting complex-dependent catabolic process [GO:0031145]; animal organ regeneration [GO:0031100]; apoptotic process [GO:0006915]; cell aging [GO:0007569]; cell division [GO:0051301]; cell migration [GO:0016477]; cell proliferation [GO:0008283]; cellular response to hydrogen peroxide [GO:0070301]; centrosome cycle [GO:0007098]; chromosome condensation [GO:0030261]; ciliary basal body-plasma membrane docking [GO:0097711]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; DNA repair [GO:0006281]; DNA replication [GO:0006260]; epithelial cell differentiation [GO:0030855]; G2/M transition of mitotic cell cycle [GO:0000086]; Golgi disassembly [GO:0090166]; microtubule cytoskeleton organization [GO:0000226]; mitotic cell cycle phase transition [GO:0044772]; mitotic G2 DNA damage checkpoint [GO:0007095]; mitotic nuclear envelope disassembly [GO:0007077]; negative regulation of apoptotic process [GO:0043066]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; positive regulation of cardiac muscle cell proliferation [GO:0060045]; positive regulation of DNA replication [GO:0045740]; positive regulation of G2/M transition of mitotic cell cycle [GO:0010971]; positive regulation of gene expression [GO:0010628]; positive regulation of mitochondrial ATP synthesis coupled electron transport [GO:1905448]; positive regulation of protein import into nucleus, translocation [GO:0033160]; positive regulation of protein localization to nucleus [GO:1900182]; pronuclear fusion [GO:0007344]; protein deubiquitination [GO:0016579]; protein localization to kinetochore [GO:0034501]; protein phosphorylation [GO:0006468]; protein-containing complex assembly [GO:0065003]; regulation of embryonic development [GO:0045995]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; regulation of Schwann cell differentiation [GO:0014038]; response to activity [GO:0014823]; response to amine [GO:0014075]; response to axon injury [GO:0048678]; response to cadmium ion [GO:0046686]; response to copper ion [GO:0046688]; response to ethanol [GO:0045471]; response to organic cyclic compound [GO:0014070]; ventricular cardiac muscle cell development [GO:0055015]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P06493-1; Sequence=Displayed; Name=2; Synonyms=CDC2deltaT; IsoId=P06493-2; Sequence=VSP_021375; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Mitochondrion. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843}. Cytoplasm, cytoskeleton, spindle. Note=Cytoplasmic during the interphase. Colocalizes with SIRT2 on centrosome during prophase and on splindle fibers during metaphase of the mitotic cell cycle. Reversibly translocated from cytoplasm to nucleus when phosphorylated before G2-M transition when associated with cyclin-B1. Accumulates in mitochondria in G2-arrested cells upon DNA-damage.


uniprotID: P16615
geneSymbol: ATP2A2
reactome: R-HSA-1912420;R-HSA-418359;R-HSA-5578775;R-HSA-936837;
length: 1042
go: ENSG00000174437;
snps: rs28929478 rs121912738 rs121912733 rs121912734 rs121912737 rs121912732 rs121912736
name:
Sarcoplasmic/endoplasmic reticulum calcium ATPase 2 (SERCA2) (SR Ca(2+)-ATPase 2) (EC 3.6.3.8) (Calcium pump 2) (Calcium-transporting ATPase sarcoplasmic reticulum type, slow twitch skeletal muscle isoform) (Endoplasmic reticulum class 1/2 Ca(2+) ATPase)

sequence:

opentargets:
apical ectoplasmic specialization [GO:0061831]; calcium ion-transporting ATPase complex [GO:0090534]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; integral component of plasma membrane [GO:0005887]; longitudinal sarcoplasmic reticulum [GO:0014801]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane bounded cell projection [GO:0120025]; platelet dense tubular network membrane [GO:0031095]; protein-containing complex [GO:0032991]; ribbon synapse [GO:0097470]; sarcoplasmic reticulum [GO:0016529]; sarcoplasmic reticulum membrane [GO:0033017]; vesicle membrane [GO:0012506]; ATP binding [GO:0005524]; calcium ion binding [GO:0005509]; calcium-transporting ATPase activity [GO:0005388]; calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential [GO:0086039]; enzyme binding [GO:0019899]; lutropin-choriogonadotropic hormone receptor binding [GO:0031775]; protein C-terminus binding [GO:0008022]; proton-exporting ATPase activity, phosphorylative mechanism [GO:0008553]; S100 protein binding [GO:0044548]; calcium ion import into sarcoplasmic reticulum [GO:1990036]; calcium ion transmembrane transport [GO:0070588]; calcium ion transport from cytosol to endoplasmic reticulum [GO:1903515]; cardiac muscle hypertrophy in response to stress [GO:0014898]; cell adhesion [GO:0007155]; cellular calcium ion homeostasis [GO:0006874]; cellular response to heat [GO:0034605]; cellular response to oxidative stress [GO:0034599]; endoplasmic reticulum calcium ion homeostasis [GO:0032469]; epidermis development [GO:0008544]; ER-nucleus signaling pathway [GO:0006984]; ion transmembrane transport [GO:0034220]; negative regulation of heart contraction [GO:0045822]; organelle organization [GO:0006996]; positive regulation of endoplasmic reticulum calcium ion concentration [GO:0032470]; positive regulation of heart rate [GO:0010460]; regulation of calcium ion-dependent exocytosis of neurotransmitter [GO:1903233]; regulation of cardiac conduction [GO:1903779]; regulation of cardiac muscle cell action potential involved in regulation of contraction [GO:0098909]; regulation of cardiac muscle cell membrane potential [GO:0086036]; regulation of cardiac muscle contraction by calcium ion signaling [GO:0010882]; regulation of the force of heart contraction [GO:0002026]; relaxation of cardiac muscle [GO:0055119]; response to endoplasmic reticulum stress [GO:0034976]; response to lipopolysaccharide [GO:0032496]; sarcoplasmic reticulum calcium ion transport [GO:0070296]; skeletal muscle contraction [GO:0003009]; T-tubule organization [GO:0033292]; transition between fast and slow fiber [GO:0014883]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=SERCA2 transcripts differ only in their 3'-UTR region and are expressed in a tissue-specific manner.; Name=1; Synonyms=ATP2A2B, Class 2-4, HK1, SERCA2b; IsoId=P16615-1; Sequence=Displayed; Note=Ubiquitous housekeeping isoform.; Name=2; Synonyms=ATP2A2A, Class 1, HK2, SERCA2a; IsoId=P16615-2; Sequence=VSP_000358; Note=Cardiac/slow twitch, muscle specific isoform. Has a lower affinity for calcium and a higher catalytic turnover rate.; Name=3; Synonyms=SERCA2C; IsoId=P16615-3; Sequence=VSP_039393; Note=May be due to intron retention. Shows a lower apparent affinity for cytosolic calcium than isoform 2 and a catalytic turnover rate similar to isoform 1.; Name=4; IsoId=P16615-4; Sequence=VSP_039392; Note=No experimental confirmation available.; Name=5; IsoId=P16615-5; Sequence=VSP_039394; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:O55143}; Multi-pass membrane protein {ECO:0000255}. Sarcoplasmic reticulum membrane {ECO:0000250|UniProtKB:O55143}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q93084
geneSymbol: ATP2A3
reactome: R-HSA-1912420;R-HSA-418359;R-HSA-5578775;R-HSA-936837;
length: 1043
go: ENSG00000074370;
snps: rs144535413 rs11654827
name:
Sarcoplasmic/endoplasmic reticulum calcium ATPase 3 (SERCA3) (SR Ca(2+)-ATPase 3) (EC 3.6.3.8) (Calcium pump 3)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; nuclear membrane [GO:0031965]; platelet dense tubular network membrane [GO:0031095]; sarcoplasmic reticulum [GO:0016529]; sarcoplasmic reticulum membrane [GO:0033017]; ATP binding [GO:0005524]; calcium-transporting ATPase activity [GO:0005388]; metal ion binding [GO:0046872]; proton-exporting ATPase activity, phosphorylative mechanism [GO:0008553]; calcium ion transmembrane transport [GO:0070588]; calcium ion transport [GO:0006816]; cellular calcium ion homeostasis [GO:0006874]; ion transmembrane transport [GO:0034220]; regulation of cardiac conduction [GO:1903779]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Comment=The same names have been attributed to different isoforms.; Name=SERCA3B; IsoId=Q93084-1; Sequence=Displayed; Name=SERCA3A; Synonyms=HuS3-II; IsoId=Q93084-2; Sequence=VSP_000364; Name=SERCA3C; Synonyms=HuS3-IV; IsoId=Q93084-3; Sequence=VSP_000366; Name=SERCA3G; Synonyms=HuS3-I; IsoId=Q93084-4; Sequence=VSP_000365; Name=SERCA3E; IsoId=Q93084-5; Sequence=VSP_000367; Name=SERCA3D; IsoId=Q93084-6; Sequence=VSP_000368; Name=SERCA3F; IsoId=Q93084-7; Sequence=VSP_042296; 

location:
SUBCELLULAR LOCATION: Nucleus membrane {ECO:0000269|PubMed:15028735}; Multi-pass membrane protein {ECO:0000269|PubMed:15028735}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:15028735}; Multi-pass membrane protein {ECO:0000269|PubMed:15028735}. Sarcoplasmic reticulum membrane {ECO:0000269|PubMed:15028735}; Multi-pass membrane protein {ECO:0000269|PubMed:15028735}.


uniprotID: P20020
geneSymbol: ATP2B1
reactome: R-HSA-418359;R-HSA-5578775;R-HSA-936837;
pdb: 6A69;
length: 1220
go: ENSG00000070961;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Plasma membrane calcium-transporting ATPase 1 (PMCA1) (EC 3.6.3.8) (Plasma membrane calcium ATPase isoform 1) (Plasma membrane calcium pump isoform 1)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; cytoplasmic side of plasma membrane [GO:0009898]; dendritic spine membrane [GO:0032591]; extracellular exosome [GO:0070062]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; integral component of presynaptic active zone membrane [GO:0099059]; membrane [GO:0016020]; membrane raft [GO:0045121]; neuronal cell body membrane [GO:0032809]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; calcium ion transmembrane transporter activity [GO:0015085]; calcium-transporting ATPase activity [GO:0005388]; calcium-transporting ATPase activity involved in regulation of presynaptic cytosolic calcium ion concentration [GO:1905056]; calmodulin binding [GO:0005516]; metal ion binding [GO:0046872]; PDZ domain binding [GO:0030165]; aging [GO:0007568]; brain development [GO:0007420]; calcium ion export across plasma membrane [GO:1990034]; cellular calcium ion homeostasis [GO:0006874]; cellular response to corticosterone stimulus [GO:0071386]; cellular response to vitamin D [GO:0071305]; ion transmembrane transport [GO:0034220]; neural retina development [GO:0003407]; regulation of cardiac conduction [GO:1903779]; regulation of cytosolic calcium ion concentration [GO:0051480]; response to cold [GO:0009409]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=B; Synonyms=CI, hPMCA1b {ECO:0000303|PubMed:1332771}; IsoId=P20020-3; Sequence=Displayed; Name=D; Synonyms=CIV, hPMCA1d {ECO:0000303|PubMed:1332771}; IsoId=P20020-1; Sequence=VSP_059773; Name=A; Synonyms=CII, hPMCA1a {ECO:0000303|PubMed:1332771}; IsoId=P20020-2; Sequence=VSP_059774, VSP_059775; Name=C; Synonyms=CIII, hPMCA1c {ECO:0000303|PubMed:1332771}; IsoId=P20020-4; Sequence=VSP_059772; Name=E; Synonyms=CV; IsoId=P20020-5; Sequence=VSP_059774, VSP_059776; Name=K; IsoId=P20020-6; Sequence=VSP_059771; 


uniprotID: Q16720
geneSymbol: ATP2B3
reactome: R-HSA-418359;R-HSA-5578775;R-HSA-936837;
length: 1220
go: ENSG00000067842;
snps: rs2269409 rs397514619
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Plasma membrane calcium-transporting ATPase 3 (PMCA3) (EC 3.6.3.8) (Plasma membrane calcium ATPase isoform 3) (Plasma membrane calcium pump isoform 3)

sequence:

opentargets:
extracellular vesicle [GO:1903561]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; presynapse [GO:0098793]; ATP binding [GO:0005524]; calcium ion transmembrane transporter activity [GO:0015085]; calcium-transporting ATPase activity [GO:0005388]; calcium-transporting ATPase activity involved in regulation of presynaptic cytosolic calcium ion concentration [GO:1905056]; calmodulin binding [GO:0005516]; metal ion binding [GO:0046872]; PDZ domain binding [GO:0030165]; calcium ion export across plasma membrane [GO:1990034]; cellular calcium ion homeostasis [GO:0006874]; ion transmembrane transport [GO:0034220]; regulation of cardiac conduction [GO:1903779]; regulation of cytosolic calcium ion concentration [GO:0051480]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Comment=There is a combination of two alternatively spliced domains at N-terminal site A (X and Z) and at C-terminal site C (A, B, E and G). The splice sites have mostly been studied independently. Full isoforms so far detected are isoform XA and isoform XB. Experimental confirmation may be lacking for some isoforms.; Name=XB; Synonyms=AIICI; IsoId=Q16720-1; Sequence=Displayed; Name=XA; Synonyms=AIICII; IsoId=Q16720-2; Sequence=VSP_000393; Name=ZA; Synonyms=AICII; IsoId=Q16720-3; Sequence=VSP_000392, VSP_000393; Name=ZB; Synonyms=AICI; IsoId=Q16720-4; Sequence=VSP_000392; Name=XE; Synonyms=AIICV; IsoId=Q16720-5; Sequence=VSP_000394; Name=ZE; Synonyms=AICV; IsoId=Q16720-6; Sequence=VSP_000392, VSP_000394; Name=XG; Synonyms=AIICVII; IsoId=Q16720-7; Sequence=VSP_000395; Name=ZG; Synonyms=AICVII; IsoId=Q16720-8; Sequence=VSP_000392, VSP_000395; 


uniprotID: Q4VNC1
geneSymbol: ATP13A4
reactome: R-HSA-936837;
name: Probable cation-transporting ATPase 13A4 (EC 3.6.3.-) (P5-ATPase isoform 4)
length: 1196
go: ENSG00000127249;
snps: rs6788448 rs35424709
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; cation-transporting ATPase activity [GO:0019829]; metal ion binding [GO:0046872]; cellular calcium ion homeostasis [GO:0006874]; ion transmembrane transport [GO:0034220]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q4VNC1-1; Sequence=Displayed; Name=2; IsoId=Q4VNC1-2; Sequence=VSP_031261; Note=Dubious isoform lacking mature mRNA evidence.; Name=3; IsoId=Q4VNC1-3; Sequence=VSP_031259, VSP_031260; Note=No experimental confirmation available.; Name=4; IsoId=Q4VNC1-4; Sequence=VSP_031258; Note=No experimental confirmation available.; 


uniprotID: Q674R7
geneSymbol: ATG9B
reactome: R-HSA-1632852;
length: 924
go: ENSG00000181652;
snps: rs61078191
name:
Autophagy-related protein 9B (APG9-like 2) (Nitric oxide synthase 3-overlapping antisense gene protein) (Protein sONE)

sequence:

opentargets:
autophagosome [GO:0005776]; autophagosome membrane [GO:0000421]; cytoplasmic vesicle [GO:0031410]; integral component of membrane [GO:0016021]; phagophore assembly site [GO:0000407]; autophagosome assembly [GO:0000045]; autophagy of mitochondrion [GO:0000422]; late nucleophagy [GO:0044805]; protein localization to phagophore assembly site [GO:0034497]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q674R7-1; Sequence=Displayed; Name=2; IsoId=Q674R7-2; Sequence=VSP_030410, VSP_030413; Note=No experimental confirmation available.; Name=3; IsoId=Q674R7-3; Sequence=VSP_030411, VSP_030412; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, autophagosome membrane {ECO:0000269|PubMed:18936157}; Multi-pass membrane protein {ECO:0000269|PubMed:18936157}. Note=Under amino acid starvation or rapamycin treatment, redistributes from a juxtanuclear clustered pool to a dispersed peripheral cytosolic pool. The starvation-induced redistribution depends on ULK1 and ATG13.


uniprotID: O95352
geneSymbol: ATG7
reactome: R-HSA-1632852;R-HSA-6798695;R-HSA-6802952;R-HSA-983168;
length: 703
go: ENSG00000197548;
snps: rs36117895
name:
Ubiquitin-like modifier-activating enzyme ATG7 (ATG12-activating enzyme E1 ATG7) (Autophagy-related protein 7) (APG7-like) (hAGP7) (Ubiquitin-activating enzyme E1-like protein)

sequence:

opentargets:
axon [GO:0030424]; axoneme [GO:0005930]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; phagophore assembly site [GO:0000407]; secretory granule lumen [GO:0034774]; Atg12 activating enzyme activity [GO:0019778]; Atg8 activating enzyme activity [GO:0019779]; protein homodimerization activity [GO:0042803]; transcription factor binding [GO:0008134]; ubiquitin activating enzyme activity [GO:0004839]; aging [GO:0007568]; autophagosome assembly [GO:0000045]; autophagy [GO:0006914]; autophagy of host cells involved in interaction with symbiont [GO:0075044]; autophagy of mitochondrion [GO:0000422]; C-terminal protein lipidation [GO:0006501]; cellular protein modification process [GO:0006464]; cellular response to hyperoxia [GO:0071455]; cellular response to morphine [GO:0071315]; cellular response to nitrogen starvation [GO:0006995]; cellular response to starvation [GO:0009267]; defense response to virus [GO:0051607]; late nucleophagy [GO:0044805]; macroautophagy [GO:0016236]; membrane fusion [GO:0061025]; negative regulation of mitochondrial DNA replication [GO:0090298]; negative regulation of oxidative stress-induced neuron death [GO:1903204]; neutrophil degranulation [GO:0043312]; piecemeal microautophagy of the nucleus [GO:0034727]; positive regulation of apoptotic process [GO:0043065]; positive regulation of autophagy [GO:0010508]; positive regulation of protein catabolic process [GO:0045732]; positive regulation of protein modification process [GO:0031401]; protein lipidation [GO:0006497]; protein transport [GO:0015031]; response to fluoride [GO:1902617]; response to glucose [GO:0009749]; suppression by virus of host autophagy [GO:0039521]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O95352-1; Sequence=Displayed; Name=2; IsoId=O95352-2; Sequence=VSP_013205; Name=3; IsoId=O95352-3; Sequence=VSP_045206, VSP_045207; 

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


uniprotID: Q6ZVZ8
geneSymbol: ASB18
reactome: R-HSA-8951664;R-HSA-983168;
name: Ankyrin repeat and SOCS box protein 18 (ASB-18)
length: 466
go: ENSG00000182177;
snps: rs6756597 rs7588748 rs6431437 rs10177957
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZVZ8-1; Sequence=Displayed; Name=2; IsoId=Q6ZVZ8-2; Sequence=VSP_029621; Note=No experimental confirmation available.; 


uniprotID: Q495Z4
geneSymbol: ASB16-AS1
name: Putative uncharacterized protein ASB16-AS1 (ASB16 antisense RNA 1) (ASB16 antisense gene protein 1)
length: 193
snps: rs7217858 rs7212573
sequence:
MSGPPSAPQGALAAPRSPAVRRKGLQAPSWGSPGRPAAHSPWACGPPHWGPQRGPRNAAAARPGPRSRWHKRCAAACGACARPPGHQLQPPGAGAPQPGVACSYLGPRPQRTPCSAQSRPGWCAGPRRRHAPGTEPHVAPGRAPPPRAGASPGSRLLPGSPSLLLPAATWRTWGQESKVLRKILKAWDPFSLL


uniprotID: Q96Q27
geneSymbol: ASB2
reactome: R-HSA-8951664;R-HSA-983168;
name: Ankyrin repeat and SOCS box protein 2 (ASB-2)
length: 587
go: ENSG00000100628;
snps: rs2295213
sequence:

opentargets:
cytosol [GO:0005829]; ubiquitin ligase complex [GO:0000151]; intracellular signal transduction [GO:0035556]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]; signal transduction [GO:0007165]; skeletal muscle cell differentiation [GO:0035914]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=ASB2alpha, hematopoietic-type {ECO:0000303|PubMed:21737450}; IsoId=Q96Q27-1; Sequence=Displayed; Name=2; Synonyms=ASB2beta, muscle-type {ECO:0000303|PubMed:21737450}; IsoId=Q96Q27-2; Sequence=VSP_043042; Note=Contains a UIM domain at positions 26-41.; 


uniprotID: Q8WXK3
geneSymbol: ASB13
reactome: R-HSA-8951664;R-HSA-983168;
name: Ankyrin repeat and SOCS box protein 13 (ASB-13)
length: 278
go: ENSG00000196372;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WXK3-1; Sequence=Displayed; Name=2; IsoId=Q8WXK3-2; Sequence=VSP_000272, VSP_000273; Note=No experimental confirmation available.; 


uniprotID: Q8WWX0
geneSymbol: ASB5
reactome: R-HSA-8951664;R-HSA-983168;
name: Ankyrin repeat and SOCS box protein 5 (ASB-5)
length: 329
go: ENSG00000164122;
sequence:

opentargets:
cytosol [GO:0005829]; 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=2;  Name=1; IsoId=Q8WWX0-1; Sequence=Displayed; Name=2; IsoId=Q8WWX0-2; Sequence=VSP_054425; Note=No experimental confirmation available.; 


uniprotID: Q9H672
geneSymbol: ASB7
reactome: R-HSA-8951664;R-HSA-983168;
name: Ankyrin repeat and SOCS box protein 7 (ASB-7)
length: 318
go: ENSG00000183475;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H672-1; Sequence=Displayed; Name=2; IsoId=Q9H672-2; Sequence=VSP_008919, VSP_008920; 


uniprotID: Q99929
geneSymbol: ASCL2
length: 193
go: ENSG00000183734;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981, ECO:0000269|PubMed:11440538}.
name:
Achaete-scute homolog 2 (ASH-2) (hASH2) (Class A basic helix-loop-helix protein 45) (bHLHa45) (Mash2)

sequence:
MDGGTLPRSAPPAPPVPVGCAARRRPASPELLRCSRRRRPATAETGGGAAAVARRNERERNRVKLVNLGFQALRQHVPHGGASKKLSKVETLRSAVEYIRALQRLLAEHDAVRNALAGGLRPQAVRPSAPRGPPGTTPVAASPSRASSSPGRGGSSEPGSPRSAYSSDDSGCEGALSPAERELLDFSSWLGGY

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; RNA polymerase II transcription factor complex [GO:0090575]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; E-box binding [GO:0070888]; protein dimerization activity [GO:0046983]; 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]; negative regulation of Schwann cell proliferation [GO:0010626]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neuron differentiation [GO:0030182]; placenta development [GO:0001890]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of neurogenesis [GO:0050767]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription, DNA-templated [GO:0006355]; response to hypoxia [GO:0001666]; sensory organ development [GO:0007423]; somatic stem cell population maintenance [GO:0035019]; spongiotrophoblast differentiation [GO:0060708]; spongiotrophoblast layer development [GO:0060712]; transcription, DNA-templated [GO:0006351]


