# annotation

uniprotID: P32297
geneSymbol: CHRNA3
reactome: R-HSA-629587;R-HSA-629594;R-HSA-629597;
pdb: 4ZK4;5SYO;5TVC;
name: Neuronal acetylcholine receptor subunit alpha-3
length: 505
go: ENSG00000080644;
drug: DB01156;DB09028;DB00514;DB00898;DB00674;DB00848;DB01227;DB00184;DB01090;DB01273;
snps: rs8192475
sequence:

opentargets:
acetylcholine-gated channel complex [GO:0005892]; cell junction [GO:0030054]; dendrite [GO:0030425]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; plasma membrane raft [GO:0044853]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; synapse [GO:0045202]; acetylcholine binding [GO:0042166]; acetylcholine receptor activity [GO:0015464]; acetylcholine-gated cation-selective channel activity [GO:0022848]; ligand-gated ion channel activity [GO:0015276]; acetylcholine receptor signaling pathway [GO:0095500]; activation of transmembrane receptor protein tyrosine kinase activity [GO:0007171]; behavioral response to nicotine [GO:0035095]; chemical synaptic transmission [GO:0007268]; excitatory postsynaptic potential [GO:0060079]; ion transmembrane transport [GO:0034220]; ion transport [GO:0006811]; locomotory behavior [GO:0007626]; nervous system development [GO:0007399]; nervous system process [GO:0050877]; neuromuscular synaptic transmission [GO:0007274]; regulation of acetylcholine secretion, neurotransmission [GO:0014056]; regulation of dendrite morphogenesis [GO:0048814]; regulation of membrane potential [GO:0042391]; regulation of smooth muscle contraction [GO:0006940]; response to acetylcholine [GO:1905144]; response to nicotine [GO:0035094]; signal transduction [GO:0007165]; synaptic transmission involved in micturition [GO:0060084]; synaptic transmission, cholinergic [GO:0007271]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=2; IsoId=P32297-2; Sequence=Displayed; Name=1; IsoId=P32297-1; Sequence=VSP_037750; Name=3; IsoId=P32297-3; Sequence=VSP_037751; 

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


uniprotID: Q99798
geneSymbol: ACO2
reactome: R-HSA-1268020;R-HSA-71403;
name: Aconitate hydratase, mitochondrial (Aconitase) (EC 4.2.1.3) (Citrate hydro-lyase)
length: 780
go: ENSG00000100412;
drug: DB03964;DB04351;DB04072;DB01727;DB04562;
snps: rs141772938 rs786200924 rs786204828 rs752034900 rs786204829 rs1804785
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250|UniProtKB:P16276}.
sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; 3 iron, 4 sulfur cluster binding [GO:0051538]; 4 iron, 4 sulfur cluster binding [GO:0051539]; aconitate hydratase activity [GO:0003994]; iron ion binding [GO:0005506]; citrate metabolic process [GO:0006101]; generation of precursor metabolites and energy [GO:0006091]; isocitrate metabolic process [GO:0006102]; liver development [GO:0001889]; response to isolation stress [GO:0035900]; tricarboxylic acid cycle [GO:0006099]


uniprotID: P43681
geneSymbol: CHRNA4
reactome: R-HSA-629587;R-HSA-629594;R-HSA-629597;
pdb: 2GVT;2LLY;5KXI;6CNJ;6CNK;
name: Neuronal acetylcholine receptor subunit alpha-4
length: 627
go: ENSG00000101204;
snps: rs121909580 rs45604738 rs45622132
sequence:

opentargets:
acetylcholine-gated channel complex [GO:0005892]; cell junction [GO:0030054]; dendrite [GO:0030425]; dopaminergic synapse [GO:0098691]; external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; integral component of presynaptic membrane [GO:0099056]; membrane [GO:0016020]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; synapse [GO:0045202]; acetylcholine binding [GO:0042166]; acetylcholine receptor activity [GO:0015464]; acetylcholine-gated cation-selective channel activity [GO:0022848]; ligand-gated ion channel activity [GO:0015276]; acetylcholine receptor signaling pathway [GO:0095500]; action potential [GO:0001508]; B cell activation [GO:0042113]; behavioral response to nicotine [GO:0035095]; calcium ion transport [GO:0006816]; chemical synaptic transmission [GO:0007268]; cognition [GO:0050890]; DNA repair [GO:0006281]; exploration behavior [GO:0035640]; inhibitory postsynaptic potential [GO:0060080]; ion transmembrane transport [GO:0034220]; ion transport [GO:0006811]; locomotory behavior [GO:0007626]; membrane depolarization [GO:0051899]; nervous system process [GO:0050877]; neuromuscular synaptic transmission [GO:0007274]; regulation of dopamine secretion [GO:0014059]; regulation of membrane potential [GO:0042391]; regulation of synaptic vesicle exocytosis [GO:2000300]; respiratory gaseous exchange [GO:0007585]; response to hypoxia [GO:0001666]; response to nicotine [GO:0035094]; response to oxidative stress [GO:0006979]; sensory perception of pain [GO:0019233]; signal transduction [GO:0007165]; synaptic transmission, cholinergic [GO:0007271]

drug:
DB05458;DB01351;DB01352;DB01483;DB01496;DB00237;DB00241;DB01353;DB09028;DB00514;DB00898;DB00674;DB01354;DB01355;DB00463;DB00849;DB00184;DB00312;DB01174;DB00794;DB05740;DB00418;DB00306;DB00599;DB01273;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P43681-1; Sequence=Displayed; Name=2; IsoId=P43681-2; Sequence=VSP_054275, VSP_054276; Note=No experimental confirmation available.; 

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


uniprotID: O75027
geneSymbol: ABCB7
reactome: R-HSA-1369007;R-HSA-2564830;
length: 752
go: ENSG00000131269;
snps: rs515726147 rs72554634 rs80356713 rs80356714 rs1340989 rs1340989
name:
ATP-binding cassette sub-family B member 7, mitochondrial (ATP-binding cassette transporter 7) (ABC transporter 7 protein)

sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; ATP binding [GO:0005524]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; heme transporter activity [GO:0015232]; cellular iron ion homeostasis [GO:0006879]; transmembrane transport [GO:0055085]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O75027-1; Sequence=Displayed; Name=2; IsoId=O75027-2; Sequence=VSP_014635; Name=3; IsoId=O75027-3; Sequence=VSP_054700; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000255|PROSITE-ProRule:PRU00441}.


uniprotID: P33121
geneSymbol: ACSL1
reactome: R-HSA-1989781;R-HSA-2046105;R-HSA-2046106;R-HSA-75876;
length: 698
go: ENSG00000151726;
drug: DB00131;DB00171;
name:
Long-chain-fatty-acid--CoA ligase 1 (EC 6.2.1.3) (Acyl-CoA synthetase 1) (ACS1) (Long-chain acyl-CoA synthetase 1) (LACS 1) (Long-chain acyl-CoA synthetase 2) (LACS 2) (Long-chain fatty acid-CoA ligase 2) (Palmitoyl-CoA ligase 1) (Palmitoyl-CoA ligase 2)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; peroxisomal membrane [GO:0005778]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; decanoate-CoA ligase activity [GO:0102391]; long-chain fatty acid-CoA ligase activity [GO:0004467]; adiponectin-activated signaling pathway [GO:0033211]; alpha-linolenic acid metabolic process [GO:0036109]; linoleic acid metabolic process [GO:0043651]; lipid biosynthetic process [GO:0008610]; long-chain fatty acid import [GO:0044539]; long-chain fatty acid metabolic process [GO:0001676]; long-chain fatty-acyl-CoA biosynthetic process [GO:0035338]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of protein serine/threonine kinase activity [GO:0071902]; regulation of lipid metabolic process [GO:0019216]; response to drug [GO:0042493]; response to nutrient [GO:0007584]; response to oleic acid [GO:0034201]; response to organic cyclic compound [GO:0014070]; triglyceride biosynthetic process [GO:0019432]; xenobiotic catabolic process [GO:0042178]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P33121-1; Sequence=Displayed; Name=2; IsoId=P33121-2; Sequence=VSP_009604; Note=May be due to a competing acceptor splice site. No experimental confirmation available.; Name=3; IsoId=P33121-3; Sequence=VSP_054391; Note=No experimental confirmation available.; 

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


uniprotID: Q8N9L9
geneSymbol: ACOT4
reactome: R-HSA-390247;R-HSA-9033241;
pdb: 3K2I;
length: 421
go: ENSG00000177465;
snps: rs3742819 rs35724886
location: SUBCELLULAR LOCATION: Peroxisome {ECO:0000269|PubMed:16940157}.
name:
Acyl-coenzyme A thioesterase 4 (Acyl-CoA thioesterase 4) (EC 3.1.2.2) (PTE-2b) (Peroxisomal acyl coenzyme A thioester hydrolase Ib) (Peroxisomal long-chain acyl-CoA thioesterase Ib) (PTE-Ib)

sequence:

opentargets:
cytosol [GO:0005829]; peroxisomal matrix [GO:0005782]; peroxisome [GO:0005777]; acyl-CoA hydrolase activity [GO:0047617]; carboxylic ester hydrolase activity [GO:0052689]; myristoyl-CoA hydrolase activity [GO:0102991]; palmitoyl-CoA hydrolase activity [GO:0016290]; signaling receptor binding [GO:0005102]; succinyl-CoA hydrolase activity [GO:0004778]; acyl-CoA metabolic process [GO:0006637]; dicarboxylic acid catabolic process [GO:0043649]; dicarboxylic acid metabolic process [GO:0043648]; fatty acid metabolic process [GO:0006631]; long-chain fatty acid metabolic process [GO:0001676]; protein targeting to peroxisome [GO:0006625]; saturated monocarboxylic acid metabolic process [GO:0032788]; short-chain fatty acid metabolic process [GO:0046459]; succinyl-CoA metabolic process [GO:0006104]; unsaturated monocarboxylic acid metabolic process [GO:0032789]; very long-chain fatty acid metabolic process [GO:0000038]


uniprotID: Q8IUX4
geneSymbol: APOBEC3F
pdb: 3WUS;4IOU;4J4J;5HX4;5HX5;5W2M;
length: 373
go: ENSG00000128394;
snps: rs35053197 rs2076109 rs2076110 rs2020390 rs34182094 rs2076101 rs12157816
location: SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, P-body.
name:
DNA dC->dU-editing enzyme APOBEC-3F (EC 3.5.4.-) (Apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like 3F) (A3F)

sequence:

opentargets:
apolipoprotein B mRNA editing enzyme complex [GO:0030895]; cytoplasm [GO:0005737]; nucleus [GO:0005634]; P-body [GO:0000932]; ribonucleoprotein complex [GO:1990904]; cytidine deaminase activity [GO:0004126]; identical protein binding [GO:0042802]; RNA binding [GO:0003723]; zinc ion binding [GO:0008270]; base conversion or substitution editing [GO:0016553]; cytidine to uridine editing [GO:0016554]; defense response to virus [GO:0051607]; DNA cytosine deamination [GO:0070383]; DNA demethylation [GO:0080111]; innate immune response [GO:0045087]; negative regulation of single stranded viral RNA replication via double stranded DNA intermediate [GO:0045869]; negative regulation of transposition [GO:0010529]; negative regulation of viral genome replication [GO:0045071]; negative regulation of viral process [GO:0048525]; positive regulation of defense response to virus by host [GO:0002230]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IUX4-1; Sequence=Displayed; Name=2; IsoId=Q8IUX4-2; Sequence=VSP_009803, VSP_009804; Note=May be due to a competing donor splice site. No experimental confirmation available.; Name=3; IsoId=Q8IUX4-3; Sequence=VSP_042754, VSP_042755; 


uniprotID: Q9Y6U3
geneSymbol: SCIN
pdb: 3FG6;5A1K;5A1M;
name: Adseverin (Scinderin)
length: 715
go: ENSG00000006747;
snps: rs2240572 rs35083013 rs17166250 rs35705332 rs1138957
sequence:

opentargets:
brush border [GO:0005903]; cell cortex [GO:0005938]; cell junction [GO:0030054]; cell projection [GO:0042995]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; plasma membrane [GO:0005886]; podosome [GO:0002102]; 1-phosphatidylinositol binding [GO:0005545]; actin binding [GO:0003779]; actin filament binding [GO:0051015]; calcium ion binding [GO:0005509]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; phosphatidylserine binding [GO:0001786]; actin filament capping [GO:0051693]; actin filament severing [GO:0051014]; actin nucleation [GO:0045010]; calcium ion regulated exocytosis [GO:0017156]; negative regulation of cell proliferation [GO:0008285]; positive regulation of actin nucleation [GO:0051127]; positive regulation of apoptotic process [GO:0043065]; positive regulation of megakaryocyte differentiation [GO:0045654]; positive regulation of secretion [GO:0051047]; regulation of chondrocyte differentiation [GO:0032330]; sequestering of actin monomers [GO:0042989]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y6U3-1; Sequence=Displayed; Name=2; IsoId=Q9Y6U3-2; Sequence=VSP_012427, VSP_012428; Note=No experimental confirmation available.; Name=3; IsoId=Q9Y6U3-3; Sequence=VSP_040548; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305}. Cell projection, podosome {ECO:0000250|UniProtKB:Q60604}.


uniprotID: Q6IQ32
geneSymbol: ADNP2
length: 1131
go: ENSG00000101544;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Activity-dependent neuroprotector homeobox protein 2 (ADNP homeobox protein 2) (Zinc finger protein 508)

sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; cellular response to oxidative stress [GO:0034599]; cellular response to retinoic acid [GO:0071300]; negative regulation of cell death [GO:0060548]; neuron differentiation [GO:0030182]; positive regulation of cell growth [GO:0030307]


uniprotID: P49753
geneSymbol: ACOT2
reactome: R-HSA-77289;R-HSA-9033241;
pdb: 3HLK;
length: 483
go: ENSG00000119673;
snps: rs11545741 rs7494
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:16940157}.
name:
Acyl-coenzyme A thioesterase 2, mitochondrial (Acyl-CoA thioesterase 2) (EC 3.1.2.2) (Acyl-coenzyme A thioester hydrolase 2a) (CTE-Ia) (Long-chain acyl-CoA thioesterase 2) (ZAP128)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; peroxisomal matrix [GO:0005782]; acyl-CoA hydrolase activity [GO:0047617]; carboxylic ester hydrolase activity [GO:0052689]; myristoyl-CoA hydrolase activity [GO:0102991]; palmitoyl-CoA hydrolase activity [GO:0016290]; signaling receptor binding [GO:0005102]; acyl-CoA metabolic process [GO:0006637]; fatty acid metabolic process [GO:0006631]; long-chain fatty acid metabolic process [GO:0001676]; protein targeting to peroxisome [GO:0006625]; very long-chain fatty acid metabolic process [GO:0000038]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P49753-1; Sequence=Displayed; Name=2; IsoId=P49753-2; Sequence=VSP_012225, VSP_012226; 


uniprotID: Q8N7X0
geneSymbol: ADGB
name: Androglobin (Calpain-7-like protein)
length: 1667
go: ENSG00000118492;
snps: rs9497606 rs1052445
sequence:

opentargets:
intracellular [GO:0005622]; calcium-dependent cysteine-type endopeptidase activity [GO:0004198]; heme binding [GO:0020037]; oxygen binding [GO:0019825]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N7X0-1; Sequence=Displayed; Name=2; IsoId=Q8N7X0-2; Sequence=VSP_039243, VSP_039244; Note=Gene prediction based on EST data.; 


uniprotID: P78536
geneSymbol: ADAM17
length: 824
go: ENSG00000151694;
drug: DB07145;DB06943;DB07079;DB07233;
snps: rs34431503 rs2230818
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
reactome:
R-HSA-1251985;R-HSA-1442490;R-HSA-177929;R-HSA-193692;R-HSA-2122948;R-HSA-2644606;R-HSA-2660826;R-HSA-2691232;R-HSA-2894862;R-HSA-5362798;R-HSA-75893;R-HSA-982772;

pdb:
1BKC;1ZXC;2A8H;2DDF;2FV5;2FV9;2I47;2M2F;2OI0;3B92;3CKI;3E8R;3EDZ;3EWJ;3G42;3KMC;3KME;3L0T;3L0V;3LE9;3LEA;3LGP;3O64;

name:
Disintegrin and metalloproteinase domain-containing protein 17 (ADAM 17) (EC 3.4.24.86) (Snake venom-like protease) (TNF-alpha convertase) (TNF-alpha-converting enzyme) (CD antigen CD156b)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; apical plasma membrane [GO:0016324]; cell surface [GO:0009986]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; endopeptidase activity [GO:0004175]; integrin binding [GO:0005178]; interleukin-6 receptor binding [GO:0005138]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237]; Notch binding [GO:0005112]; PDZ domain binding [GO:0030165]; peptidase activity [GO:0008233]; SH3 domain binding [GO:0017124]; B cell differentiation [GO:0030183]; cell adhesion [GO:0007155]; cell adhesion mediated by integrin [GO:0033627]; cell motility [GO:0048870]; cellular response to high density lipoprotein particle stimulus [GO:0071403]; defense response to Gram-positive bacterium [GO:0050830]; epidermal growth factor receptor signaling pathway [GO:0007173]; germinal center formation [GO:0002467]; membrane protein ectodomain proteolysis [GO:0006509]; membrane protein intracellular domain proteolysis [GO:0031293]; negative regulation of cold-induced thermogenesis [GO:0120163]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; neutrophil mediated immunity [GO:0002446]; Notch receptor processing [GO:0007220]; Notch signaling pathway [GO:0007219]; PMA-inducible membrane protein ectodomain proteolysis [GO:0051088]; positive regulation of blood vessel endothelial cell migration [GO:0043536]; positive regulation of cell growth [GO:0030307]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cellular component movement [GO:0051272]; positive regulation of chemokine production [GO:0032722]; positive regulation of epidermal growth factor-activated receptor activity [GO:0045741]; positive regulation of leukocyte chemotaxis [GO:0002690]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of T cell chemotaxis [GO:0010820]; positive regulation of transforming growth factor beta receptor signaling pathway [GO:0030511]; positive regulation of tumor necrosis factor-mediated signaling pathway [GO:1903265]; positive regulation of vascular endothelial cell proliferation [GO:1905564]; proteolysis [GO:0006508]; receptor transactivation [GO:0035624]; regulation of mast cell apoptotic process [GO:0033025]; response to drug [GO:0042493]; response to hypoxia [GO:0001666]; response to lipopolysaccharide [GO:0032496]; spleen development [GO:0048536]; T cell differentiation in thymus [GO:0033077]; tumor necrosis factor-mediated signaling pathway [GO:0033209]; wound healing, spreading of epidermal cells [GO:0035313]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=A; IsoId=P78536-1; Sequence=Displayed; Name=B; IsoId=P78536-2; Sequence=VSP_005478; Note=No experimental confirmation available.; 


uniprotID: P11229
geneSymbol: CHRM1
reactome: R-HSA-390648;R-HSA-416476;
pdb: 5CXV;
name: Muscarinic acetylcholine receptor M1
length: 460
go: ENSG00000168539;
sequence:

opentargets:
axon terminus [GO:0043679]; cell junction [GO:0030054]; cholinergic synapse [GO:0098981]; dendrite [GO:0030425]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic density membrane [GO:0099061]; integral component of presynaptic membrane [GO:0099056]; membrane [GO:0016020]; plasma membrane [GO:0005886]; Schaffer collateral - CA1 synapse [GO:0098685]; drug binding [GO:0008144]; G protein-coupled acetylcholine receptor activity [GO:0016907]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled serotonin receptor activity [GO:0004993]; neurotransmitter receptor activity [GO:0030594]; neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential [GO:0099529]; phosphatidylinositol phospholipase C activity [GO:0004435]; adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway [GO:0007197]; cell proliferation [GO:0008283]; cellular protein modification process [GO:0006464]; chemical synaptic transmission [GO:0007268]; cognition [GO:0050890]; G protein-coupled acetylcholine receptor signaling pathway [GO:0007213]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; nervous system development [GO:0007399]; neuromuscular synaptic transmission [GO:0007274]; phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway [GO:0007207]; positive regulation of cell proliferation [GO:0008284]; positive regulation of intracellular protein transport [GO:0090316]; positive regulation of ion transport [GO:0043270]; protein kinase C-activating G protein-coupled receptor signaling pathway [GO:0007205]; regulation of locomotion [GO:0040012]; saliva secretion [GO:0046541]; signal transduction [GO:0007165]

drug:
DB08897;DB05766;DB05752;DB00321;DB00543;DB00517;DB04365;DB01238;DB00572;DB00245;DB00767;DB00810;DB00835;DB00354;DB00411;DB00185;DB00477;DB01239;DB00568;DB00215;DB00771;DB00363;DB00907;DB00785;DB00979;DB00942;DB00434;DB00496;DB01151;DB00804;DB01231;DB00280;DB01142;DB00366;DB01175;DB00392;DB06702;DB01148;DB00875;DB00986;DB00725;DB00424;DB00458;DB00332;DB01221;DB00408;DB00934;DB04843;DB00940;DB01403;DB00462;DB00340;DB01233;DB00805;DB01618;DB05152;DB00622;DB00540;DB00334;DB01062;DB00383;DB00219;DB00715;DB00454;DB01085;DB00670;DB00387;DB00420;DB01069;DB00782;DB00777;DB01224;DB00747;DB01591;DB00202;DB00342;DB01409;DB01036;DB00505;DB00508;DB00376;DB00726;DB00809;DB00209;DB09076;DB00246;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P11229-1; Sequence=Displayed; Name=2; IsoId=P11229-2; Sequence=VSP_056651; Note=No experimental confirmation available.; 

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


uniprotID: Q6ZNF0
geneSymbol: ACP7
name: Acid phosphatase type 7 (EC 3.1.3.2) (Purple acid phosphatase long form)
length: 438
go: ENSG00000183760;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular region [GO:0005576]; acid phosphatase activity [GO:0003993]; metal ion binding [GO:0046872]


uniprotID: Q9BXI3
geneSymbol: NT5C1A
reactome: R-HSA-73621;R-HSA-74259;
name: Cytosolic 5'-nucleotidase 1A (cN1A) (EC 3.1.3.5) (Cytosolic 5'-nucleotidase IA) (cN-I) (cN-IA)
length: 368
go: ENSG00000116981;
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytosol [GO:0005829]; 5'-nucleotidase activity [GO:0008253]; magnesium ion binding [GO:0000287]; nucleotide binding [GO:0000166]; adenosine metabolic process [GO:0046085]; nucleoside metabolic process [GO:0009116]; purine nucleoside monophosphate catabolic process [GO:0009128]; purine nucleotide catabolic process [GO:0006195]; pyrimidine nucleoside catabolic process [GO:0046135]


uniprotID: O75078
geneSymbol: ADAM11
reactome: R-HSA-5682910;
length: 769
go: ENSG00000073670;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Disintegrin and metalloproteinase domain-containing protein 11 (ADAM 11) (Metalloproteinase-like, disintegrin-like, and cysteine-rich protein) (MDC)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; integrin binding [GO:0005178]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237]; integrin-mediated signaling pathway [GO:0007229]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; Synonyms=MDC-769; IsoId=O75078-1; Sequence=Displayed; Name=Short; Synonyms=MDC-524; IsoId=O75078-2; Sequence=VSP_005472, VSP_005473, VSP_005474, VSP_005475; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q8NE71
geneSymbol: ABCF1
reactome: R-HSA-382556;
pdb: 5ZXD;
length: 845
go: ENSG00000204574;
snps: rs6902544
name:
ATP-binding cassette sub-family F member 1 (ATP-binding cassette 50) (TNF-alpha-stimulated ABC protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; nuclear envelope [GO:0005635]; nucleoplasm [GO:0005654]; polysomal ribosome [GO:0042788]; ribosome [GO:0005840]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; ribosome binding [GO:0043022]; RNA binding [GO:0003723]; translation activator activity [GO:0008494]; translation factor activity, RNA binding [GO:0008135]; inflammatory response [GO:0006954]; positive regulation of translation [GO:0045727]; translation [GO:0006412]; translational initiation [GO:0006413]; transmembrane transport [GO:0055085]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NE71-1; Sequence=Displayed; Name=2; IsoId=Q8NE71-2; Sequence=VSP_012078; 

location:
SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000269|PubMed:19570978}. Nucleus, nucleoplasm {ECO:0000269|PubMed:19570978}. Nucleus envelope {ECO:0000269|PubMed:19570978}.


uniprotID: Q0VDE8
geneSymbol: ADIG
name: Adipogenin
sequence: MKYPLMPLVNDLTFSFLVFWFCLPVGLLLLLIIWLRFLLSQDSEENDSSVCLDWEPWSKGPAEFCWKGTLHGQEKERPCW
length: 80
go: ENSG00000182035;
opentargets:
cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; lipid droplet [GO:0005811]; nucleus [GO:0005634]; brown fat cell differentiation [GO:0050873]; positive regulation of fat cell differentiation [GO:0045600]; spermatogenesis [GO:0007283]; white fat cell differentiation [GO:0050872]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass membrane protein {ECO:0000255}. Nucleus {ECO:0000250}.


uniprotID: Q9UKV8
geneSymbol: AGO2
length: 859
go: ENSG00000123908;
reactome:
R-HSA-1912408;R-HSA-203927;R-HSA-4086398;R-HSA-426486;R-HSA-426496;R-HSA-5578749;R-HSA-5628897;R-HSA-5687128;R-HSA-8934593;R-HSA-8943723;R-HSA-8948700;R-HSA-9018519;

pdb:
3LUC;3LUD;3LUG;3LUH;3LUJ;3LUK;3QX8;3QX9;4F3T;4OLA;4OLB;4W5N;4W5O;4W5Q;4W5R;4W5T;4Z4C;4Z4D;4Z4E;4Z4F;4Z4G;4Z4H;4Z4I;5JS1;5JS2;5KI6;5T7B;5WEA;6CBD;

name:
Protein argonaute-2 (Argonaute2) (hAgo2) (EC 3.1.26.n2) (Argonaute RISC catalytic component 2) (Eukaryotic translation initiation factor 2C 2) (eIF-2C 2) (eIF2C 2) (PAZ Piwi domain protein) (PPD) (Protein slicer)

sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; micro-ribonucleoprotein complex [GO:0035068]; mRNA cap binding complex [GO:0005845]; 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]; endoribonuclease activity [GO:0004521]; endoribonuclease activity, cleaving miRNA-paired mRNA [GO:0090624]; endoribonuclease activity, cleaving siRNA-paired mRNA [GO:0070551]; metal ion binding [GO:0046872]; miRNA binding [GO:0035198]; mRNA cap binding [GO:0098808]; protein C-terminus binding [GO:0008022]; RNA 7-methylguanosine cap binding [GO:0000340]; RNA binding [GO:0003723]; RNA polymerase II complex binding [GO:0000993]; single-stranded RNA binding [GO:0003727]; siRNA binding [GO:0035197]; translation initiation factor activity [GO:0003743]; gene silencing by RNA [GO:0031047]; miRNA loading onto RISC involved in gene silencing by miRNA [GO:0035280]; miRNA mediated inhibition of translation [GO:0035278]; miRNA metabolic process [GO:0010586]; mRNA cleavage involved in gene silencing by miRNA [GO:0035279]; mRNA cleavage involved in gene silencing by siRNA [GO:0090625]; negative regulation of gene expression [GO:0010629]; negative regulation of translational initiation [GO:0045947]; positive regulation of angiogenesis [GO:0045766]; positive regulation of gene expression [GO:0010628]; positive regulation of miRNA mediated inhibition of translation [GO:1905618]; positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay [GO:1900153]; positive regulation of nuclear-transcribed mRNA poly(A) tail shortening [GO:0060213]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of trophoblast cell migration [GO:1901165]; post-embryonic development [GO:0009791]; posttranscriptional gene silencing by RNA [GO:0035194]; pre-miRNA processing [GO:0031054]; production of miRNAs involved in gene silencing by miRNA [GO:0035196]; production of siRNA involved in RNA interference [GO:0030422]; regulation of gene silencing by miRNA [GO:0060964]; RNA secondary structure unwinding [GO:0010501]; siRNA loading onto RISC involved in RNA interference [GO:0035087]; translation [GO:0006412]; Wnt signaling pathway, calcium modulating pathway [GO:0007223]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UKV8-1; Sequence=Displayed; Name=2; IsoId=Q9UKV8-2; Sequence=VSP_037001; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, P-body {ECO:0000269|PubMed:23125361}. Nucleus {ECO:0000269|PubMed:23125361}. Note=Translational repression of mRNAs results in their recruitment to P-bodies. Translocation to the nucleus requires IMP8.


uniprotID: Q15848
geneSymbol: ADIPOQ
reactome: R-HSA-163680;R-HSA-381340;
pdb: 4DOU;
length: 244
go: ENSG00000181092;
snps: rs199646033 rs62625753 rs17366743 rs121917815 rs747223144 rs185847354 rs138773406 rs141205818
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:8947845}.
name:
Adiponectin (30 kDa adipocyte complement-related protein) (Adipocyte complement-related 30 kDa protein) (ACRP30) (Adipocyte, C1q and collagen domain-containing protein) (Adipose most abundant gene transcript 1 protein) (apM-1) (Gelatin-binding protein)

sequence:

opentargets:
cell surface [GO:0009986]; collagen trimer [GO:0005581]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum [GO:0005783]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; extracellular matrix structural constituent [GO:0005201]; hormone activity [GO:0005179]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; sialic acid binding [GO:0033691]; signaling receptor binding [GO:0005102]; brown fat cell differentiation [GO:0050873]; cellular response to cAMP [GO:0071320]; cellular response to drug [GO:0035690]; cellular response to epinephrine stimulus [GO:0071872]; cellular response to insulin stimulus [GO:0032869]; circadian rhythm [GO:0007623]; detection of oxidative stress [GO:0070994]; fatty acid beta-oxidation [GO:0006635]; fatty acid oxidation [GO:0019395]; generation of precursor metabolites and energy [GO:0006091]; glucose homeostasis [GO:0042593]; glucose metabolic process [GO:0006006]; low-density lipoprotein particle clearance [GO:0034383]; negative regulation of blood pressure [GO:0045776]; negative regulation of cell migration [GO:0030336]; negative regulation of cold-induced thermogenesis [GO:0120163]; negative regulation of DNA biosynthetic process [GO:2000279]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of fat cell differentiation [GO:0045599]; negative regulation of gluconeogenesis [GO:0045721]; negative regulation of granulocyte differentiation [GO:0030853]; negative regulation of heterotypic cell-cell adhesion [GO:0034115]; negative regulation of hormone secretion [GO:0046888]; negative regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043124]; negative regulation of inflammatory response [GO:0050728]; negative regulation of intracellular protein transport [GO:0090317]; negative regulation of low-density lipoprotein particle receptor biosynthetic process [GO:0045715]; negative regulation of macrophage derived foam cell differentiation [GO:0010745]; negative regulation of macrophage differentiation [GO:0045650]; negative regulation of MAP kinase activity [GO:0043407]; negative regulation of metanephric mesenchymal cell migration [GO:2000590]; negative regulation of phagocytosis [GO:0050765]; negative regulation of platelet-derived growth factor receptor signaling pathway [GO:0010642]; negative regulation of platelet-derived growth factor receptor-alpha signaling pathway [GO:2000584]; negative regulation of protein autophosphorylation [GO:0031953]; negative regulation of receptor binding [GO:1900121]; negative regulation of synaptic transmission [GO:0050805]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of tumor necrosis factor production [GO:0032720]; negative regulation of tumor necrosis factor-mediated signaling pathway [GO:0010804]; negative regulation of vascular associated smooth muscle cell migration [GO:1904753]; negative regulation of vascular smooth muscle cell proliferation [GO:1904706]; positive regulation of cAMP-dependent protein kinase activity [GO:2000481]; positive regulation of cellular protein metabolic process [GO:0032270]; positive regulation of cholesterol efflux [GO:0010875]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of fatty acid metabolic process [GO:0045923]; positive regulation of glucose import [GO:0046326]; positive regulation of glycogen (starch) synthase activity [GO:2000467]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of interleukin-8 production [GO:0032757]; positive regulation of metanephric glomerular visceral epithelial cell development [GO:2000478]; positive regulation of monocyte chemotactic protein-1 production [GO:0071639]; positive regulation of myeloid cell apoptotic process [GO:0033034]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of protein kinase A signaling [GO:0010739]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of renal albumin absorption [GO:2000534]; positive regulation of signal transduction [GO:0009967]; protein heterotrimerization [GO:0070208]; protein homooligomerization [GO:0051260]; protein localization to plasma membrane [GO:0072659]; regulation of fatty acid biosynthetic process [GO:0042304]; regulation of glucose metabolic process [GO:0010906]; response to activity [GO:0014823]; response to bacterium [GO:0009617]; response to ethanol [GO:0045471]; response to glucocorticoid [GO:0051384]; response to glucose [GO:0009749]; response to hypoxia [GO:0001666]; response to linoleic acid [GO:0070543]; response to nutrient [GO:0007584]; response to sucrose [GO:0009744]; response to tumor necrosis factor [GO:0034612]


uniprotID: P63267
geneSymbol: ACTG2
reactome: R-HSA-445355;
length: 376
go: ENSG00000163017;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
name:
Actin, gamma-enteric smooth muscle (Alpha-actin-3) (Gamma-2-actin) (Smooth muscle gamma-actin) [Cleaved into: Actin, gamma-enteric smooth muscle, intermediate form]

sequence:

opentargets:
blood microparticle [GO:0072562]; cell body [GO:0044297]; cell periphery [GO:0071944]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; filopodium [GO:0030175]; lamellipodium [GO:0030027]; myosin filament [GO:0032982]; ATP binding [GO:0005524]; mesenchyme migration [GO:0090131]; muscle contraction [GO:0006936]; positive regulation of gene expression [GO:0010628]

snps:
rs587777385 rs587777386 rs864309490 rs864309491 rs587777388 rs587777383 rs78001248 rs587777384 rs587777384 rs864309492 rs587777387 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P63267-1; Sequence=Displayed; Name=2; IsoId=P63267-2; Sequence=VSP_045861; Note=No experimental confirmation available.; 


uniprotID: Q9ULC5
geneSymbol: ACSL5
reactome: R-HSA-75876;
name: Long-chain-fatty-acid--CoA ligase 5 (EC 6.2.1.3) (Long-chain acyl-CoA synthetase 5) (LACS 5)
length: 683
go: ENSG00000197142;
snps: rs3736946 rs12254915
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; nucleus [GO:0005634]; ATP binding [GO:0005524]; decanoate-CoA ligase activity [GO:0102391]; long-chain fatty acid-CoA ligase activity [GO:0004467]; long-chain fatty acid metabolic process [GO:0001676]; long-chain fatty-acyl-CoA biosynthetic process [GO:0035338]; regulation of extrinsic apoptotic signaling pathway [GO:2001236]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=ACSL5b, ACSL5-fl; IsoId=Q9ULC5-1; Sequence=Displayed; Note=Localize in mitochondrion and endoplasmic reticulum.; Name=2; Synonyms=ACSL5a; IsoId=Q9ULC5-3; Sequence=VSP_037947; Name=3; Synonyms=ACSL5delta20; IsoId=Q9ULC5-4; Sequence=VSP_038233; Note=Localize in mitochondrion and endoplasmic reticulum.; 

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


uniprotID: Q8NFM4
geneSymbol: ADCY4
length: 1077
go: ENSG00000129467;
reactome:
R-HSA-163359;R-HSA-163615;R-HSA-164378;R-HSA-170660;R-HSA-170670;R-HSA-418555;R-HSA-418594;R-HSA-418597;R-HSA-432040;R-HSA-5610787;

name:
Adenylate cyclase type 4 (EC 4.6.1.1) (ATP pyrophosphate-lyase 4) (Adenylate cyclase type IV) (Adenylyl cyclase 4)

sequence:

opentargets:
cytoplasm [GO:0005737]; dendrite [GO:0030425]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; adenylate cyclase activity [GO:0004016]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; protein kinase C binding [GO:0005080]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; cAMP biosynthetic process [GO:0006171]; cellular response to glucagon stimulus [GO:0071377]; G protein-coupled receptor signaling pathway [GO:0007186]; renal water homeostasis [GO:0003091]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NFM4-1; Sequence=Displayed; Name=2; IsoId=Q8NFM4-2; Sequence=VSP_055816, VSP_055817, VSP_055818, VSP_055819; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21228062}; Multi-pass membrane protein {ECO:0000305}. Cytoplasm {ECO:0000269|PubMed:11549699}.


uniprotID: O60266
geneSymbol: ADCY3
length: 1144
go: ENSG00000138031;
snps: rs541941351 rs11676272 rs750852737
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 3 (EC 4.6.1.1) (ATP pyrophosphate-lyase 3) (Adenylate cyclase type III) (AC-III) (Adenylate cyclase, olfactive type) (Adenylyl cyclase 3) (AC3)

sequence:

opentargets:
cilium [GO:0005929]; cytoplasm [GO:0005737]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; adenylate cyclase activity [GO:0004016]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; metal ion binding [GO:0046872]; acrosome reaction [GO:0007340]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; cAMP biosynthetic process [GO:0006171]; cellular response to forskolin [GO:1904322]; cellular response to glucagon stimulus [GO:0071377]; flagellated sperm motility [GO:0030317]; G protein-coupled receptor signaling pathway [GO:0007186]; olfactory learning [GO:0008355]; renal water homeostasis [GO:0003091]; sensory perception of smell [GO:0007608]; signal transduction [GO:0007165]; single fertilization [GO:0007338]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60266-1; Sequence=Displayed; Name=2; IsoId=O60266-2; Sequence=VSP_055813, VSP_055814, VSP_055815; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11549699}; Multi-pass membrane protein {ECO:0000305}. Cytoplasm {ECO:0000269|PubMed:11549699}. Cell projection, cilium {ECO:0000250|UniProtKB:Q8VHH7}. Golgi apparatus {ECO:0000250|UniProtKB:P21932}. Note=Also detected in the cytoplasm, close to lipid droplets. {ECO:0000269|PubMed:11549699}.


uniprotID: P51816
geneSymbol: AFF2
length: 1311
go: ENSG00000155966;
snps: rs12858959
name:
AF4/FMR2 family member 2 (Fragile X E mental retardation syndrome protein) (Fragile X mental retardation 2 protein) (FMR2P) (Protein FMR-2) (Protein Ox19)

sequence:

opentargets:
nuclear speck [GO:0016607]; nucleus [GO:0005634]; G-quadruplex RNA binding [GO:0002151]; brain development [GO:0007420]; learning or memory [GO:0007611]; mRNA processing [GO:0006397]; negative regulation of gene expression [GO:0010629]; nuclear speck organization [GO:0035063]; regulation of gene expression [GO:0010468]; regulation of RNA splicing [GO:0043484]; regulation of transcription, DNA-templated [GO:0006355]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=P51816-1; Sequence=Displayed; Name=2; IsoId=P51816-2; Sequence=VSP_000211, VSP_000212, VSP_000213; Name=3; IsoId=P51816-3; Sequence=VSP_000211, VSP_000212, VSP_000216; Name=4; IsoId=P51816-4; Sequence=VSP_000211, VSP_000212, VSP_000213, VSP_000214, VSP_000215; Name=5; IsoId=P51816-5; Sequence=VSP_000211, VSP_000213; Note=No experimental confirmation available.; Name=6; IsoId=P51816-6; Sequence=VSP_000212, VSP_000213; Note=No experimental confirmation available.; Name=7; IsoId=P51816-7; Sequence=VSP_043237, VSP_043238; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:19136466}. Note=When splicing is inhibited, accumulates in enlarged speckles.


uniprotID: P00326
geneSymbol: ADH1C
reactome: R-HSA-5365859;R-HSA-71384;
pdb: 1DDA;1HT0;1U3W;
name: Alcohol dehydrogenase 1C (EC 1.1.1.1) (Alcohol dehydrogenase subunit gamma)
length: 375
go: ENSG00000248144;
snps: rs35385902 rs34195308 rs1693482 rs698 rs35719513
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

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

drug:
DB03061;DB02249;DB02871;DB02721;DB03020;DB02659;DB04071;DB03559;DB00898;DB01213;DB02131;DB04113;DB00157;DB02822;DB02757;DB03226;


uniprotID: P11766
geneSymbol: ADH5
reactome: R-HSA-71384;
pdb: 1M6H;1M6W;1MA0;1MC5;1MP0;1TEH;2FZE;2FZW;3QJ5;
length: 374
go: ENSG00000197894;
drug: DB03704;DB00898;DB03017;DB00157;DB04153;
snps: rs28730623 rs28730628 rs16996593
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
name:
Alcohol dehydrogenase class-3 (EC 1.1.1.1) (Alcohol dehydrogenase 5) (Alcohol dehydrogenase class chi chain) (Alcohol dehydrogenase class-III) (Glutathione-dependent formaldehyde dehydrogenase) (FALDH) (FDH) (GSH-FDH) (EC 1.1.1.-) (S-(hydroxymethyl)glutathione dehydrogenase) (EC 1.1.1.284)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; mitochondrion [GO:0005739]; alcohol dehydrogenase (NAD) activity [GO:0004022]; electron transfer activity [GO:0009055]; fatty acid binding [GO:0005504]; formaldehyde dehydrogenase activity [GO:0018467]; protein homodimerization activity [GO:0042803]; S-(hydroxymethyl)glutathione dehydrogenase activity [GO:0051903]; zinc ion binding [GO:0008270]; ethanol oxidation [GO:0006069]; formaldehyde catabolic process [GO:0046294]; peptidyl-cysteine S-nitrosylation [GO:0018119]; positive regulation of blood pressure [GO:0045777]; respiratory system process [GO:0003016]; response to lipopolysaccharide [GO:0032496]; response to nitrosative stress [GO:0051409]; response to redox state [GO:0051775]; retinoid metabolic process [GO:0001523]


uniprotID: P78363
geneSymbol: ABCA4
reactome: R-HSA-2453864;R-HSA-2453902;R-HSA-382556;
length: 2273
go: ENSG00000198691;
name:
Retinal-specific ATP-binding cassette transporter (ATP-binding cassette sub-family A member 4) (RIM ABC transporter) (RIM protein) (RmP) (Stargardt disease protein)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; photoreceptor disc membrane [GO:0097381]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; eye pigment precursor transporter activity [GO:0005395]; phosphatidylethanolamine-translocating ATPase activity [GO:0090555]; transporter activity [GO:0005215]; lipid transport [GO:0006869]; phospholipid transfer to membrane [GO:0006649]; phospholipid translocation [GO:0045332]; photoreceptor cell maintenance [GO:0045494]; phototransduction, visible light [GO:0007603]; retinoid metabolic process [GO:0001523]; transmembrane transport [GO:0055085]; visual perception [GO:0007601]

snps:
rs62645946 rs121909205 rs62645958 rs150774447 rs61748524 rs61751411 rs55732384 rs62654395 rs62654397 rs62654397 rs61751412 rs61748526 rs61748527 rs61748529 rs61748529 rs61748530 rs62646862 rs62646863 rs281865397 rs61748535 rs61748536 rs61750200 rs6657239 rs61748538 rs373540612 rs1057518767 rs62646864 rs62645950 rs62646865 rs61748544 rs61748545 rs61751419 rs61748546 rs61748547 rs61751420 rs61748548 rs61748549 rs61751264 rs3112831 rs61748552 rs1800548 rs62646868 rs61748556 rs61751392 rs61748557 rs61748558 rs145525174 rs61748559 rs61748559 rs61749410 rs61749409 rs61749412 rs61749412 rs61752398 rs61749414 rs61752400 rs61754024 rs61749417 rs61749418 rs61749420 rs61752402 rs61749426 rs1801369 rs61749428 rs61749429 rs61752404 rs61751395 rs61749432 rs61750202 rs61749433 rs61754027 rs61749435 rs61749436 rs61749437 rs76157638 rs62642570 rs61749440 rs61754030 rs58331765 rs61749444 rs1801581 rs61749446 rs61749448 rs61752409 rs201471607 rs61749450 rs61749451 rs281865400 rs61749452 rs61749454 rs61749455 rs61749456 rs61749457 rs201855602 rs61749459 rs61750060 rs61750061 rs61751374 rs61752412 rs61752413 rs61750065 rs61752416 rs61751398 rs61752417 rs61750120 rs61750121 rs61750121 rs61750122 rs61751399 rs779426136 rs1801269 rs61750126 rs61750127 rs61750128 rs61752424 rs61750129 rs61754041 rs61750130 rs61750131 rs62642573 rs61750133 rs61750134 rs61750135 rs1800549 rs61752432 rs56357060 rs61750140 rs61750141 rs61752433 rs61750142 rs61750145 rs61750147 rs61750146 rs61750147 rs61751402 rs281865402 rs1800550 rs61750151 rs61750152 rs62642574 rs62642575 rs1762111 rs1800551 rs61750155 rs61750158 rs61754056 rs61751403 rs61751404 rs61750560 rs61753020 rs61750563 rs61750564 rs61753021 rs61750567 rs765563320 rs61750568 rs61753025 rs61753028 rs281865404 rs121909207 rs61751406 rs61750574 rs61753029 rs62646875 rs62642562 rs62642576 rs61750575 rs1801466 rs62642578 rs62642563 rs62642579 rs61750636 rs1800552 rs61753032 rs61753033 rs56142141 rs1800553 rs28938473 rs61753034 rs61753036 rs61750639 rs61751408 rs61750641 rs61750642 rs61750643 rs41292677 rs61753039 rs61750645 rs61750645 rs61750646 rs61750648 rs2297669 rs62642564 rs61750651 rs61750652 rs61750653 rs61753044 rs61750655 rs61750656 rs61751384 rs281865405 rs1800555 rs886044763 rs61750659 rs61748521 rs6666652 rs281865407 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:10075733}; Multi-pass membrane protein {ECO:0000269|PubMed:10075733}. Note=Localized to outer segment disk edges of rods and cones, with around one million copies/photoreceptor.


uniprotID: P35612
geneSymbol: ADD2
reactome: R-HSA-5223345;
name: Beta-adducin (Erythrocyte adducin subunit beta)
length: 726
go: ENSG00000075340;
snps: rs4986 rs4987 rs4982 rs17855969 rs4985
sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; F-actin capping protein complex [GO:0008290]; plasma membrane raft [GO:0044853]; postsynaptic density [GO:0014069]; actin binding [GO:0003779]; actin filament binding [GO:0051015]; calmodulin binding [GO:0005516]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; spectrin binding [GO:0030507]; structural molecule activity [GO:0005198]; actin cytoskeleton organization [GO:0030036]; actin filament bundle assembly [GO:0051017]; barbed-end actin filament capping [GO:0051016]; hemopoiesis [GO:0030097]; leukocyte migration [GO:0050900]; leukocyte tethering or rolling [GO:0050901]; positive regulation of protein binding [GO:0032092]; protein-containing complex assembly [GO:0065003]; synapse assembly [GO:0007416]; transmembrane transport [GO:0055085]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=P35612-1; Sequence=Displayed; Name=2; Synonyms=Adducin 63; IsoId=P35612-2; Sequence=VSP_000181, VSP_000182; Name=3; Synonyms=Beta-4, E; IsoId=P35612-3; Sequence=VSP_000183; Name=4; Synonyms=Beta-4a; IsoId=P35612-4; Sequence=VSP_017244, VSP_017246; Name=5; Synonyms=Beta-4b; IsoId=P35612-5; Sequence=VSP_017242, VSP_017243, VSP_017245; Name=6; Synonyms=Beta-4c; IsoId=P35612-6; Sequence=VSP_017242, VSP_017244, VSP_017246; Name=7; Synonyms=Beta-4d; IsoId=P35612-7; Sequence=VSP_017241, VSP_017244, VSP_017246; Name=8; IsoId=P35612-8; Sequence=VSP_043625, VSP_000181, VSP_000182; Note=No experimental confirmation available.; Name=9; IsoId=P35612-9; Sequence=VSP_055309, VSP_000181, VSP_000182; Note=No experimental confirmation available.; 

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


uniprotID: O15254
geneSymbol: ACOX3
reactome: R-HSA-389887;R-HSA-9033241;
length: 700
go: ENSG00000087008;
snps: rs12513296 rs13434465
location: SUBCELLULAR LOCATION: Peroxisome {ECO:0000305}.
name:
Peroxisomal acyl-coenzyme A oxidase 3 (EC 1.3.3.6) (Branched-chain acyl-CoA oxidase) (BRCACox) (Pristanoyl-CoA oxidase)

sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; peroxisomal matrix [GO:0005782]; peroxisome [GO:0005777]; acyl-CoA oxidase activity [GO:0003997]; FAD binding [GO:0071949]; fatty acid binding [GO:0005504]; flavin adenine dinucleotide binding [GO:0050660]; pristanoyl-CoA oxidase activity [GO:0016402]; signaling receptor binding [GO:0005102]; fatty acid beta-oxidation using acyl-CoA oxidase [GO:0033540]; lipid homeostasis [GO:0055088]; protein targeting to peroxisome [GO:0006625]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O15254-1; Sequence=Displayed; Name=2; IsoId=O15254-2; Sequence=VSP_023355, VSP_023356; Note=No experimental confirmation available.; 


uniprotID: Q9NUQ8
geneSymbol: ABCF3
name: ATP-binding cassette sub-family F member 3
length: 709
go: ENSG00000161204;
snps: rs11706273 rs9811715
sequence:

opentargets:
membrane [GO:0016020]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; cadherin binding [GO:0045296]; defense response to virus [GO:0051607]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NUQ8-1; Sequence=Displayed; Name=2; IsoId=Q9NUQ8-2; Sequence=VSP_020142; 


uniprotID: O94805
geneSymbol: ACTL6B
reactome: R-HSA-3214858;R-HSA-8939243;
length: 426
go: ENSG00000077080;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000303|PubMed:26601204}.
name:
Actin-like protein 6B (53 kDa BRG1-associated factor B) (Actin-related protein Baf53b) (ArpNalpha) (BRG1-associated factor 53B) (BAF53B)

sequence:

opentargets:
nBAF complex [GO:0071565]; nucleolus [GO:0005730]; nucleus [GO:0005634]; SWI/SNF complex [GO:0016514]; structural constituent of cytoskeleton [GO:0005200]; transcription coactivator activity [GO:0003713]; chromatin organization [GO:0006325]; chromatin remodeling [GO:0006338]; regulation of transcription by RNA polymerase II [GO:0006357]; spinal cord development [GO:0021510]


uniprotID: Q13443
geneSymbol: ADAM9
reactome: R-HSA-1442490;
pdb: 1M1V;
length: 819
go: ENSG00000168615;
drug: DB05033;
name:
Disintegrin and metalloproteinase domain-containing protein 9 (ADAM 9) (EC 3.4.24.-) (Cellular disintegrin-related protein) (Meltrin-gamma) (Metalloprotease/disintegrin/cysteine-rich protein 9) (Myeloma cell metalloproteinase)

sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; cell surface [GO:0009986]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; focal adhesion [GO:0005925]; integral component of membrane [GO:0016021]; intrinsic component of external side of plasma membrane [GO:0031233]; collagen binding [GO:0005518]; integrin binding [GO:0005178]; laminin binding [GO:0043236]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237]; protein kinase C binding [GO:0005080]; SH3 domain binding [GO:0017124]; activation of MAPKK activity [GO:0000186]; cell adhesion [GO:0007155]; cell adhesion mediated by integrin [GO:0033627]; cell migration [GO:0016477]; cell-cell adhesion mediated by integrin [GO:0033631]; cell-matrix adhesion [GO:0007160]; cellular response to lipopolysaccharide [GO:0071222]; integrin-mediated signaling pathway [GO:0007229]; keratinocyte differentiation [GO:0030216]; membrane protein ectodomain proteolysis [GO:0006509]; monocyte activation [GO:0042117]; PMA-inducible membrane protein ectodomain proteolysis [GO:0051088]; positive regulation of cell adhesion mediated by integrin [GO:0033630]; positive regulation of keratinocyte migration [GO:0051549]; positive regulation of macrophage fusion [GO:0034241]; positive regulation of membrane protein ectodomain proteolysis [GO:0051044]; positive regulation of protein secretion [GO:0050714]; response to antineoplastic agent [GO:0097327]; response to calcium ion [GO:0051592]; response to glucocorticoid [GO:0051384]; response to hydrogen peroxide [GO:0042542]; response to laminar fluid shear stress [GO:0034616]; response to manganese ion [GO:0010042]; response to tumor necrosis factor [GO:0034612]; transforming growth factor beta receptor signaling pathway [GO:0007179]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13443-1; Sequence=Displayed; Name=2; IsoId=Q13443-2; Sequence=VSP_011057, VSP_011058; 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: Isoform 1: Cell membrane {ECO:0000269|PubMed:8647900}; Single-pass type I membrane protein {ECO:0000255}.; SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000269|PubMed:12054541}.


uniprotID: Q99424
geneSymbol: ACOX2
reactome: R-HSA-193368;R-HSA-389887;R-HSA-9033241;
length: 681
go: ENSG00000168306;
snps: rs150832314
location: SUBCELLULAR LOCATION: Peroxisome {ECO:0000269|PubMed:27884763, ECO:0000269|PubMed:8943006}.
name:
Peroxisomal acyl-coenzyme A oxidase 2 (EC 1.17.99.3) (3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase) (3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA oxidase) (Trihydroxycoprostanoyl-CoA oxidase) (THCA-CoA oxidase) (THCCox)

sequence:

opentargets:
cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; peroxisomal matrix [GO:0005782]; peroxisome [GO:0005777]; 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity [GO:0033791]; acyl-CoA oxidase activity [GO:0003997]; FAD binding [GO:0071949]; fatty acid binding [GO:0005504]; flavin adenine dinucleotide binding [GO:0050660]; pristanoyl-CoA oxidase activity [GO:0016402]; protein homodimerization activity [GO:0042803]; signaling receptor binding [GO:0005102]; bile acid biosynthetic process [GO:0006699]; fatty acid beta-oxidation using acyl-CoA oxidase [GO:0033540]; lipid homeostasis [GO:0055088]; positive regulation of cell death [GO:0010942]; positive regulation of response to oxidative stress [GO:1902884]; protein targeting to peroxisome [GO:0006625]


uniprotID: P68133
geneSymbol: ACTA1
reactome: R-HSA-390522;
length: 377
go: ENSG00000143632;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
name:
Actin, alpha skeletal muscle (Alpha-actin-1) [Cleaved into: Actin, alpha skeletal muscle, intermediate form]

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; actin filament [GO:0005884]; blood microparticle [GO:0072562]; cell body [GO:0044297]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; filopodium [GO:0030175]; lamellipodium [GO:0030027]; sarcomere [GO:0030017]; stress fiber [GO:0001725]; striated muscle thin filament [GO:0005865]; ADP binding [GO:0043531]; ATP binding [GO:0005524]; myosin binding [GO:0017022]; structural constituent of cytoskeleton [GO:0005200]; cellular response to organonitrogen compound [GO:0071417]; mesenchyme migration [GO:0090131]; muscle contraction [GO:0006936]; muscle filament sliding [GO:0030049]; positive regulation of gene expression [GO:0010628]; response to extracellular stimulus [GO:0009991]; response to lithium ion [GO:0010226]; response to mechanical stimulus [GO:0009612]; response to steroid hormone [GO:0048545]; skeletal muscle fiber adaptation [GO:0043503]; skeletal muscle fiber development [GO:0048741]; skeletal muscle thin filament assembly [GO:0030240]

drug:
DB04151;DB04629;DB03850;DB03616;DB02621;DB08080;DB04395;DB04774;DB04775;DB04783;DB02772;DB03903;DB03021;

snps:
rs121909527 rs121909521 rs398123562 rs121909519 rs121909520 rs121909526 rs121909522 rs121909522 rs1064794287 rs869312739 rs121909530 rs1057521118 rs794727714 rs367543051 rs121909523 rs121909525 rs121909525 rs121909529 rs398122936 rs121909531 rs121909528 rs587777354 rs121909524 


uniprotID: Q5FVE4
geneSymbol: ACSBG2
reactome: R-HSA-75876;
length: 666
go: ENSG00000130377;
snps: rs4807840 rs33937754 rs17851959 rs17851960 rs35609668 rs17856650 rs17856651 rs35605352
location: SUBCELLULAR LOCATION: Cytoplasm. Membrane; Peripheral membrane protein.
name:
Long-chain-fatty-acid--CoA ligase ACSBG2 (EC 6.2.1.3) (Acyl-CoA synthetase bubblegum family member 2) (Bubblegum-related protein) (PRTD-NY3)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; mitochondrion [GO:0005739]; acyl-CoA hydrolase activity [GO:0047617]; ATP binding [GO:0005524]; decanoate-CoA ligase activity [GO:0102391]; long-chain fatty acid-CoA ligase activity [GO:0004467]; very long-chain fatty acid-CoA ligase activity [GO:0031957]; cell differentiation [GO:0030154]; fatty acid metabolic process [GO:0006631]; long-chain fatty-acyl-CoA biosynthetic process [GO:0035338]; multicellular organism development [GO:0007275]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q5FVE4-1; Sequence=Displayed; Name=2; IsoId=Q5FVE4-2; Sequence=VSP_030719; Note=No experimental confirmation available.; Name=3; IsoId=Q5FVE4-3; Sequence=VSP_030718; Note=No experimental confirmation available.; Name=4; IsoId=Q5FVE4-4; Sequence=VSP_030717; Note=No experimental confirmation available.; 


uniprotID: P16219
geneSymbol: ACADS
reactome: R-HSA-77350;R-HSA-77352;
pdb: 2VIG;
length: 412
go: ENSG00000122971;
drug: DB03059;DB03147;DB00157;
location: SUBCELLULAR LOCATION: Mitochondrion matrix.
name:
Short-chain specific acyl-CoA dehydrogenase, mitochondrial (SCAD) (EC 1.3.8.1) (Butyryl-CoA dehydrogenase)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; acyl-CoA dehydrogenase activity [GO:0003995]; butyryl-CoA dehydrogenase activity [GO:0004085]; flavin adenine dinucleotide binding [GO:0050660]; butyrate catabolic process [GO:0046359]; fatty acid beta-oxidation [GO:0006635]; fatty acid beta-oxidation using acyl-CoA dehydrogenase [GO:0033539]

snps:
rs121908003 rs121908005 rs121908004 rs61732144 rs1800556 rs57443665 rs28940874 rs1799958 rs121908006 rs28941773 rs28940875 rs28940872 rs35233375 


uniprotID: P00325
geneSymbol: ADH1B
reactome: R-HSA-71384;
pdb: 1DEH;1HDX;1HDY;1HDZ;1HSZ;1HTB;1U3U;1U3V;3HUD;
name: Alcohol dehydrogenase 1B (EC 1.1.1.1) (Alcohol dehydrogenase subunit beta)
length: 375
drug: DB03461;DB02721;DB03703;DB00898;DB01213;DB04077;DB02481;DB04105;DB00157;
snps: rs1229984 rs1041969 rs6413413 rs2066702
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; alcohol dehydrogenase activity, zinc-dependent [GO:0004024]; zinc ion binding [GO:0008270]; ethanol oxidation [GO:0006069]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P00325-1; Sequence=Displayed; Name=2; IsoId=P00325-2; Sequence=VSP_054847; 


uniprotID: Q8WXI4
geneSymbol: ACOT11
reactome: R-HSA-77289;
pdb: 3FO5;
length: 607
go: ENSG00000162390;
snps: rs34630746 rs2304306 rs1702003 rs2304305 rs12403630
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Acyl-coenzyme A thioesterase 11 (Acyl-CoA thioesterase 11) (EC 3.1.2.-) (Acyl-CoA thioester hydrolase 11) (Adipose-associated thioesterase) (Brown fat-inducible thioesterase) (BFIT)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; acyl-CoA hydrolase activity [GO:0047617]; carboxylic ester hydrolase activity [GO:0052689]; fatty-acyl-CoA binding [GO:0000062]; lipid binding [GO:0008289]; long-chain fatty acyl-CoA binding [GO:0036042]; palmitoyl-CoA hydrolase activity [GO:0016290]; acyl-CoA metabolic process [GO:0006637]; fatty acid metabolic process [GO:0006631]; intracellular signal transduction [GO:0035556]; negative regulation of cold-induced thermogenesis [GO:0120163]; palmitic acid biosynthetic process [GO:1900535]; response to cold [GO:0009409]; response to temperature stimulus [GO:0009266]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=BFIT1; IsoId=Q8WXI4-1; Sequence=Displayed; Name=2; Synonyms=BFIT2; IsoId=Q8WXI4-2; Sequence=VSP_000160; 


uniprotID: P36896
geneSymbol: ACVR1B
reactome: R-HSA-1181150;R-HSA-1433617;R-HSA-1502540;
length: 505
go: ENSG00000135503;
drug: DB00171;
snps: rs34488074 rs928906
name:
Activin receptor type-1B (EC 2.7.11.30) (Activin receptor type IB) (ACTR-IB) (Activin receptor-like kinase 4) (ALK-4) (Serine/threonine-protein kinase receptor R2) (SKR2)

sequence:

opentargets:
activin receptor complex [GO:0048179]; cell surface [GO:0009986]; cytosol [GO:0005829]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; activin binding [GO:0048185]; activin receptor activity, type I [GO:0016361]; ATP binding [GO:0005524]; growth factor binding [GO:0019838]; inhibin binding [GO:0034711]; metal ion binding [GO:0046872]; protein serine/threonine kinase activity [GO:0004674]; SMAD binding [GO:0046332]; transforming growth factor beta receptor activity, type I [GO:0005025]; transforming growth factor beta-activated receptor activity [GO:0005024]; transmembrane receptor protein serine/threonine kinase activity [GO:0004675]; ubiquitin protein ligase binding [GO:0031625]; activin receptor signaling pathway [GO:0032924]; central nervous system development [GO:0007417]; development of primary female sexual characteristics [GO:0046545]; extrinsic apoptotic signaling pathway [GO:0097191]; G1/S transition of mitotic cell cycle [GO:0000082]; hair follicle development [GO:0001942]; in utero embryonic development [GO:0001701]; negative regulation of cell growth [GO:0030308]; negative regulation of gene expression [GO:0010629]; nodal signaling pathway [GO:0038092]; pattern specification process [GO:0007389]; peptidyl-threonine phosphorylation [GO:0018107]; positive regulation of activin receptor signaling pathway [GO:0032927]; positive regulation of erythrocyte differentiation [GO:0045648]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of trophoblast cell migration [GO:1901165]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of transcription, DNA-templated [GO:0006355]; signal transduction [GO:0007165]; transforming growth factor beta receptor signaling pathway [GO:0007179]; transmembrane receptor protein serine/threonine kinase signaling pathway [GO:0007178]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=SKR2-1; IsoId=P36896-1; Sequence=Displayed; Name=2; Synonyms=SKR2-2; IsoId=P36896-2; Sequence=VSP_004954; Name=3; Synonyms=SKR2-3; IsoId=P36896-3; Sequence=VSP_004953; Name=4; IsoId=P36896-4; Sequence=VSP_041842; Name=5; IsoId=P36896-5; Sequence=VSP_041841; 


uniprotID: Q08043
geneSymbol: ACTN3
reactome: R-HSA-373753;R-HSA-390522;
pdb: 1TJT;1WKU;3LUE;
name: Alpha-actinin-3 (Alpha-actinin skeletal muscle isoform 3) (F-actin cross-linking protein)
length: 901
go: ENSG00000248746;
snps: rs1671064 rs618838 rs2229456 rs540874
sequence:

opentargets:
actin filament [GO:0005884]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; intracellular [GO:0005622]; pseudopodium [GO:0031143]; actin binding [GO:0003779]; calcium ion binding [GO:0005509]; integrin binding [GO:0005178]; ion channel binding [GO:0044325]; protein homodimerization activity [GO:0042803]; structural constituent of muscle [GO:0008307]; focal adhesion assembly [GO:0048041]; muscle filament sliding [GO:0030049]; negative regulation of calcineurin-NFAT signaling cascade [GO:0070885]; negative regulation of cold-induced thermogenesis [GO:0120163]; negative regulation of glycolytic process [GO:0045820]; negative regulation of oxidative phosphorylation [GO:0090324]; positive regulation of glucose catabolic process to lactate via pyruvate [GO:1904025]; positive regulation of skeletal muscle tissue growth [GO:0048633]; regulation of aerobic respiration [GO:1903715]; regulation of apoptotic process [GO:0042981]; regulation of the force of skeletal muscle contraction [GO:0014728]; response to denervation involved in regulation of muscle adaptation [GO:0014894]; skeletal muscle atrophy [GO:0014732]; transition between fast and slow fiber [GO:0014883]


uniprotID: Q8NER5
geneSymbol: ACVR1C
reactome: R-HSA-1181150;R-HSA-1433617;R-HSA-1502540;
length: 493
go: ENSG00000123612;
snps: rs56188432 rs34742924 rs35500979 rs7594480
name:
Activin receptor type-1C (EC 2.7.11.30) (Activin receptor type IC) (ACTR-IC) (Activin receptor-like kinase 7) (ALK-7)

sequence:

opentargets:
activin receptor complex [GO:0048179]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; activin binding [GO:0048185]; activin receptor activity, type I [GO:0016361]; ATP binding [GO:0005524]; growth factor binding [GO:0019838]; metal ion binding [GO:0046872]; nodal binding [GO:0038100]; protein serine/threonine kinase activity [GO:0004674]; SMAD binding [GO:0046332]; transforming growth factor beta receptor activity, type I [GO:0005025]; transforming growth factor beta-activated receptor activity [GO:0005024]; activin receptor signaling pathway [GO:0032924]; apoptotic nuclear changes [GO:0030262]; cell differentiation [GO:0030154]; lipid storage [GO:0019915]; negative regulation of chorionic trophoblast cell proliferation [GO:1901383]; negative regulation of insulin secretion [GO:0046676]; negative regulation of trophoblast cell migration [GO:1901164]; nodal signaling pathway [GO:0038092]; pattern specification process [GO:0007389]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; protein phosphorylation [GO:0006468]; response to dietary excess [GO:0002021]; response to glucose [GO:0009749]; response to insulin [GO:0032868]; transforming growth factor beta receptor signaling pathway [GO:0007179]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1 {ECO:0000269|PubMed:12606401}; IsoId=Q8NER5-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:12606401}; Synonyms=B {ECO:0000303|PubMed:12606401}, soluble B {ECO:0000303|PubMed:12606401}; IsoId=Q8NER5-2; Sequence=VSP_051841; Name=3 {ECO:0000269|PubMed:12606401}; Synonyms=A {ECO:0000303|PubMed:12606401}, soluble A {ECO:0000303|PubMed:12606401}; IsoId=Q8NER5-3; Sequence=VSP_051842; Name=4 {ECO:0000269|PubMed:12606401}; Synonyms=Truncated {ECO:0000303|PubMed:12606401}; IsoId=Q8NER5-4; Sequence=VSP_051840; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:12606401}; Single-pass type I membrane protein {ECO:0000269|PubMed:12606401}.


uniprotID: Q9H2U9
geneSymbol: ADAM7
length: 754
go: ENSG00000069206;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Disintegrin and metalloproteinase domain-containing protein 7 (ADAM 7) (Sperm maturation-related glycoprotein GP-83)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; metalloendopeptidase activity [GO:0004222]

snps:
rs150319320 rs34852692 rs137990671 rs267601866 rs267601867 rs7829386 rs13255694 rs267601868 rs3736281 rs867202281 rs2307044 rs13259668 rs1034941983 rs6980829 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H2U9-1; Sequence=Displayed; Name=2; IsoId=Q9H2U9-2; Sequence=VSP_056602, VSP_056603; Note=No experimental confirmation available.; 


uniprotID: P51826
geneSymbol: AFF3
name: AF4/FMR2 family member 3 (Lymphoid nuclear protein related to AF4) (Protein LAF-4)
length: 1226
go: ENSG00000144218;
snps: rs4851223 rs1047265
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytosol [GO:0005829]; ELL-EAF complex [GO:0032783]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription elongation factor complex [GO:0008023]; DNA-binding transcription factor activity [GO:0003700]; double-stranded DNA binding [GO:0003690]; embryonic hindlimb morphogenesis [GO:0035116]; response to tumor necrosis factor [GO:0034612]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P51826-1; Sequence=Displayed; Name=2; IsoId=P51826-2; Sequence=VSP_041120; 


uniprotID: O95394
geneSymbol: PGM3
reactome: R-HSA-446210;
length: 542
go: ENSG00000013375;
snps: rs267608260 rs869312886 rs587777562 rs587777415 rs587777565 rs473267 rs587777413 rs267608261
name:
Phosphoacetylglucosamine mutase (PAGM) (EC 5.4.2.3) (Acetylglucosamine phosphomutase) (N-acetylglucosamine-phosphate mutase) (Phosphoglucomutase-3) (PGM 3)

sequence:

opentargets:
cytosol [GO:0005829]; magnesium ion binding [GO:0000287]; phosphoacetylglucosamine mutase activity [GO:0004610]; phosphoglucomutase activity [GO:0004614]; carbohydrate metabolic process [GO:0005975]; glucosamine metabolic process [GO:0006041]; glucose 1-phosphate metabolic process [GO:0019255]; hemopoiesis [GO:0030097]; protein N-linked glycosylation [GO:0006487]; protein O-linked glycosylation [GO:0006493]; spermatogenesis [GO:0007283]; UDP-N-acetylglucosamine biosynthetic process [GO:0006048]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O95394-1; Sequence=Displayed; Name=2; IsoId=O95394-3; Sequence=VSP_047320; Note=Gene prediction based on EST data.; Name=3; IsoId=O95394-4; Sequence=VSP_047319; Note=No experimental confirmation available.; 


uniprotID: Q9BYX7
geneSymbol: POTEKP
reactome: R-HSA-114608;
name: Putative beta-actin-like protein 3 (Kappa-actin) (POTE ankyrin domain family member K)
length: 375
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}.
sequence:

opentargets:
cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ATP binding [GO:0005524]; platelet degranulation [GO:0002576]


uniprotID: Q8N2K0
geneSymbol: ABHD12
reactome: R-HSA-426048;
length: 398
go: ENSG00000100997;
snps: rs746748
name:
Monoacylglycerol lipase ABHD12 (EC 3.1.1.23) (2-arachidonoylglycerol hydrolase) (Abhydrolase domain-containing protein 12)

sequence:

opentargets:
AMPA glutamate receptor complex [GO:0032281]; dendrite cytoplasm [GO:0032839]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; acylglycerol lipase activity [GO:0047372]; lysophospholipase activity [GO:0004622]; palmitoyl-(protein) hydrolase activity [GO:0008474]; acylglycerol catabolic process [GO:0046464]; adult walking behavior [GO:0007628]; glycerophospholipid catabolic process [GO:0046475]; monoacylglycerol catabolic process [GO:0052651]; phosphatidylserine catabolic process [GO:0006660]; protein depalmitoylation [GO:0002084]; response to auditory stimulus [GO:0010996]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N2K0-1; Sequence=Displayed; Name=2; IsoId=Q8N2K0-2; Sequence=VSP_009097; Name=3; IsoId=Q8N2K0-3; Sequence=VSP_037372; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:Q99LR1}; Single-pass membrane protein {ECO:0000250|UniProtKB:Q99LR1}.


uniprotID: P18089
geneSymbol: ADRA2B
reactome: R-HSA-390696;R-HSA-392023;R-HSA-418594;R-HSA-418597;
pdb: 2CVA;
length: 450
go: ENSG00000274286;
snps: rs9333568 rs29000569 rs527655811 rs29000569
name:
Alpha-2B adrenergic receptor (Alpha-2 adrenergic receptor subtype C2) (Alpha-2B adrenoreceptor) (Alpha-2B adrenoceptor) (Alpha-2BAR)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; adrenergic receptor activity [GO:0004935]; alpha2-adrenergic receptor activity [GO:0004938]; epinephrine binding [GO:0051379]; activation of MAPK activity [GO:0000187]; activation of protein kinase B activity [GO:0032148]; adenylate cyclase-activating adrenergic receptor signaling pathway [GO:0071880]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; adrenergic receptor signaling pathway [GO:0071875]; cell-cell signaling [GO:0007267]; female pregnancy [GO:0007565]; G protein-coupled receptor signaling pathway [GO:0007186]; negative regulation of epinephrine secretion [GO:0032811]; negative regulation of norepinephrine secretion [GO:0010700]; platelet activation [GO:0030168]; positive regulation of blood pressure [GO:0045777]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of uterine smooth muscle contraction [GO:0070474]; receptor transactivation [GO:0035624]; regulation of vascular smooth muscle contraction [GO:0003056]

drug:
DB00543;DB00182;DB00714;DB00964;DB01238;DB06216;DB00217;DB00484;DB01200;DB00248;DB01136;DB00477;DB09202;DB00575;DB00363;DB01151;DB01142;DB04855;DB06262;DB01363;DB05492;DB00668;DB01049;DB00696;DB06678;DB00292;DB00800;DB00629;DB01018;DB06707;DB00589;DB00408;DB00934;DB01365;DB01577;DB01403;DB06148;DB00368;DB00540;DB00334;DB05461;DB00935;DB01267;DB01186;DB00925;DB00413;DB00457;DB01224;DB00734;DB00268;DB05271;DB13025;DB00697;DB00797;DB00726;DB06694;DB01392;DB00246;

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23105096}; Multi-pass membrane protein {ECO:0000269|PubMed:23105096}. Note=Interaction with RAB26 mediates transport from the Golgi to the cell membrane. {ECO:0000269|PubMed:23105096}.


uniprotID: Q5T601
geneSymbol: ADGRF1
length: 910
go: ENSG00000153292;
drug: DB05255;
snps: rs1226475
name:
Adhesion G-protein coupled receptor F1 (G protein-coupled receptor 110) (G protein-coupled receptor KPG_012) (G protein-coupled receptor PGR19)

sequence:

opentargets:
extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; 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]; memory [GO:0007613]; neuron projection development [GO:0031175]; positive regulation of CREB transcription factor activity [GO:0032793]; synapse assembly [GO:0007416]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5T601-1; Sequence=Displayed; Name=2; IsoId=Q5T601-2; Sequence=VSP_039588, VSP_039589; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:20149256}; Multi-pass membrane protein {ECO:0000255}.; SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000269|PubMed:20149256}.


uniprotID: O96019
geneSymbol: ACTL6A
reactome: R-HSA-3214847;R-HSA-3214858;R-HSA-5689603;R-HSA-5696394;R-HSA-8939243;
length: 429
go: ENSG00000136518;
snps: rs1035631360 rs868064163
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18026119}.
name:
Actin-like protein 6A (53 kDa BRG1-associated factor A) (Actin-related protein Baf53a) (ArpNbeta) (BRG1-associated factor 53A) (BAF53A) (INO80 complex subunit K)

sequence:

opentargets:
Ino80 complex [GO:0031011]; npBAF complex [GO:0071564]; NuA4 histone acetyltransferase complex [GO:0035267]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; SWI/SNF complex [GO:0016514]; chromatin binding [GO:0003682]; transcription coactivator activity [GO:0003713]; ATP-dependent chromatin remodeling [GO:0043044]; blastocyst formation [GO:0001825]; chromatin remodeling [GO:0006338]; DNA recombination [GO:0006310]; DNA repair [GO:0006281]; histone H2A acetylation [GO:0043968]; histone H4 acetylation [GO:0043967]; neural retina development [GO:0003407]; protein deubiquitination [GO:0016579]; regulation of growth [GO:0040008]; regulation of transcription by RNA polymerase II [GO:0006357]; signal transduction [GO:0007165]; spinal cord development [GO:0021510]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O96019-1; Sequence=Displayed; Name=2; Synonyms=HArpNbeta-s; IsoId=O96019-2; Sequence=VSP_000150; 


uniprotID: P14621
geneSymbol: ACYP2
sequence: MSTAQSLKSVDYEVFGRVQGVCFRMYTEDEARKIGVVGWVKNTSKGTVTGQVQGPEDKVNSMKSWLSKVGSPSSRIDRTNFSNEKTISKLEYSNFSIRY
length: 99
go: ENSG00000170634;
drug: DB01942;
name:
Acylphosphatase-2 (EC 3.6.1.7) (Acylphosphatase, muscle type isozyme) (Acylphosphate phosphohydrolase 2)

opentargets:
acylphosphatase activity [GO:0003998]; identical protein binding [GO:0042802]; phosphate-containing compound metabolic process [GO:0006796]


uniprotID: Q8TDY3
geneSymbol: ACTRT2
name: Actin-related protein T2 (ARP-T2) (Actin-related protein M2)
length: 377
go: ENSG00000169717;
opentargets: cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]
snps: rs3795263
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}.
sequence:


uniprotID: Q07912
geneSymbol: TNK2
pdb: 1CF4;1U46;1U4D;1U54;3EQP;3EQR;4EWH;4HZR;4HZS;4ID7;5ZXB;
length: 1038
go: ENSG00000061938;
drug: DB00171;DB04367;
name:
Activated CDC42 kinase 1 (ACK-1) (EC 2.7.10.2) (EC 2.7.11.1) (Tyrosine kinase non-receptor protein 2)

sequence:

opentargets:
adherens junction [GO:0005912]; clathrin-coated pit [GO:0005905]; clathrin-coated vesicle [GO:0030136]; cytoplasm [GO:0005737]; cytoplasmic vesicle membrane [GO:0030659]; endosome [GO:0005768]; Grb2-EGFR complex [GO:0070436]; membrane [GO:0016020]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; epidermal growth factor receptor binding [GO:0005154]; GTPase inhibitor activity [GO:0005095]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; protein serine/threonine kinase activity [GO:0004674]; protein serine/threonine/tyrosine kinase activity [GO:0004712]; protein tyrosine kinase activity [GO:0004713]; ubiquitin protein ligase binding [GO:0031625]; WW domain binding [GO:0050699]; cell differentiation [GO:0030154]; cell surface receptor signaling pathway [GO:0007166]; endocytosis [GO:0006897]; peptidyl-tyrosine autophosphorylation [GO:0038083]; phosphorylation [GO:0016310]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; regulation of cell proliferation [GO:0042127]; regulation of clathrin-dependent endocytosis [GO:2000369]; small GTPase mediated signal transduction [GO:0007264]

snps:
rs56036945 rs113498671 rs3747673 rs56161912 rs970946035 rs35759128 rs201407161 rs56260729 rs57872314 rs3749333 rs13433937 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q07912-1; Sequence=Displayed; Name=2; IsoId=Q07912-2; Sequence=VSP_008655, VSP_008656; 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=Q07912-3; Sequence=VSP_037284, VSP_037285, VSP_037286; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane. Nucleus. Endosome. Cell junction, adherens junction {ECO:0000250}. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasmic vesicle, clathrin-coated vesicle. Membrane, clathrin-coated pit. Cytoplasm, perinuclear region {ECO:0000269|PubMed:20110370}. Note=The Tyr-284 phosphorylated form is found both in the membrane and nucleus. Colocalizes with EGFR on endosomes. Nuclear translocation is CDC42-dependent.


uniprotID: P10109
geneSymbol: FDX1
reactome: R-HSA-1362409;R-HSA-196108;R-HSA-211976;R-HSA-2395516;R-HSA-5579026;
pdb: 3N9Y;3N9Z;3NA0;3NA1;3P1M;
name: Adrenodoxin, mitochondrial (Adrenal ferredoxin) (Ferredoxin-1) (Hepatoredoxin)
length: 184
go: ENSG00000137714;
drug: DB00648;
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:20547883}.
sequence:
MAAAGGARLLRAASAVLGGPAGRWLHHAGSRAGSSGLLRNRGPGGSAEASRSLSVSARARSSSEDKITVHFINRDGETLTTKGKVGDSLLDVVVENNLDIDGFGACEGTLACSTCHLIFEDHIYEKLDAITDEENDMLDLAYGLTDRSRLGCQICLTKSMDNMTVRVPETVADARQSIDVGKTS

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; 2 iron, 2 sulfur cluster binding [GO:0051537]; electron transfer activity [GO:0009055]; iron ion binding [GO:0005506]; C21-steroid hormone biosynthetic process [GO:0006700]; cellular response to cAMP [GO:0071320]; cellular response to forskolin [GO:1904322]; cholesterol metabolic process [GO:0008203]; hormone biosynthetic process [GO:0042446]; small molecule metabolic process [GO:0044281]; sterol metabolic process [GO:0016125]


uniprotID: P12235
geneSymbol: SLC25A4
reactome: R-HSA-1268020;R-HSA-180897;R-HSA-422356;
length: 298
go: ENSG00000151729;
drug: DB01736;DB00171;DB02426;DB03429;DB00720;DB04178;
snps: rs886041081 rs104893876 rs28999114 rs104893873 rs121912683 rs886041082 rs770816416 rs104893874
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein.
name:
ADP/ATP translocase 1 (ADP,ATP carrier protein 1) (ADP,ATP carrier protein, heart/skeletal muscle isoform T1) (Adenine nucleotide translocator 1) (ANT 1) (Solute carrier family 25 member 4)

sequence:

opentargets:
integral component of mitochondrial membrane [GO:0032592]; integral component of plasma membrane [GO:0005887]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; adenine transmembrane transporter activity [GO:0015207]; ATP:ADP antiporter activity [GO:0005471]; ADP transport [GO:0015866]; apoptotic mitochondrial changes [GO:0008637]; generation of precursor metabolites and energy [GO:0006091]; mitochondrial genome maintenance [GO:0000002]; negative regulation of necroptotic process [GO:0060546]; regulation of insulin secretion [GO:0050796]; viral process [GO:0016032]


uniprotID: P37023
geneSymbol: ACVRL1
reactome: R-HSA-201451;
pdb: 2LCR;3MY0;4FAO;
length: 503
go: ENSG00000139567;
drug: DB00171;
name:
Serine/threonine-protein kinase receptor R3 (SKR3) (EC 2.7.11.30) (Activin receptor-like kinase 1) (ALK-1) (TGF-B superfamily receptor type I) (TSR-I)

sequence:

opentargets:
activin receptor complex [GO:0048179]; cell surface [GO:0009986]; dendrite [GO:0030425]; integral component of plasma membrane [GO:0005887]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; activin binding [GO:0048185]; activin receptor activity, type I [GO:0016361]; ATP binding [GO:0005524]; BMP receptor activity [GO:0098821]; growth factor binding [GO:0019838]; metal ion binding [GO:0046872]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activity [GO:0004674]; SMAD binding [GO:0046332]; transforming growth factor beta binding [GO:0050431]; transforming growth factor beta receptor activity, type I [GO:0005025]; transforming growth factor beta-activated receptor activity [GO:0005024]; transmembrane receptor protein serine/threonine kinase activity [GO:0004675]; angiogenesis [GO:0001525]; artery development [GO:0060840]; blood circulation [GO:0008015]; blood vessel endothelial cell proliferation involved in sprouting angiogenesis [GO:0002043]; blood vessel maturation [GO:0001955]; blood vessel remodeling [GO:0001974]; BMP signaling pathway [GO:0030509]; cellular response to BMP stimulus [GO:0071773]; cellular response to transforming growth factor beta stimulus [GO:0071560]; dorsal aorta morphogenesis [GO:0035912]; endocardial cushion morphogenesis [GO:0003203]; endothelial tube morphogenesis [GO:0061154]; in utero embryonic development [GO:0001701]; lymphangiogenesis [GO:0001946]; lymphatic endothelial cell differentiation [GO:0060836]; negative regulation of blood vessel endothelial cell migration [GO:0043537]; negative regulation of cell adhesion [GO:0007162]; negative regulation of cell growth [GO:0030308]; negative regulation of cell migration [GO:0030336]; negative regulation of cell proliferation [GO:0008285]; negative regulation of DNA biosynthetic process [GO:2000279]; negative regulation of endothelial cell differentiation [GO:0045602]; negative regulation of endothelial cell migration [GO:0010596]; negative regulation of endothelial cell proliferation [GO:0001937]; negative regulation of focal adhesion assembly [GO:0051895]; negative regulation of gene expression [GO:0010629]; pattern specification process [GO:0007389]; positive regulation of angiogenesis [GO:0045766]; positive regulation of BMP signaling pathway [GO:0030513]; positive regulation of chondrocyte differentiation [GO:0032332]; positive regulation of endothelial cell differentiation [GO:0045603]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; protein phosphorylation [GO:0006468]; regulation of blood pressure [GO:0008217]; regulation of blood vessel endothelial cell migration [GO:0043535]; regulation of DNA replication [GO:0006275]; regulation of endothelial cell proliferation [GO:0001936]; regulation of transcription, DNA-templated [GO:0006355]; response to hypoxia [GO:0001666]; retina vasculature development in camera-type eye [GO:0061298]; signal transduction [GO:0007165]; transforming growth factor beta receptor signaling pathway [GO:0007179]; venous blood vessel development [GO:0060841]; wound healing, spreading of epidermal cells [GO:0035313]

snps:
rs149664056 rs387906392 rs121909285 rs863223409 rs1131691346 rs1480110873 rs863223414 rs1085307405 rs1330837892 rs753792569 rs28936687 rs754283265 rs762773076 rs1804508 rs1085307410 rs863223413 rs28936688 rs1060503248 rs28936401 rs28936399 rs959973779 rs1131691686 rs121909286 rs121909289 rs121909284 rs121909284 rs121909287 rs141653630 rs1085307419 rs1085307426 rs139142865 rs121909288 rs113700354 rs1085307428 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26176610}; Single-pass type I membrane protein {ECO:0000255}.


uniprotID: P07311
geneSymbol: ACYP1
pdb: 2K7J;2K7K;2VH7;2W4C;2W4P;3TOQ;
sequence: MAEGNTLISVDYEIFGKVQGVFFRKHTQAEGKKLGLVGWVQNTDRGTVQGQLQGPISKVRHMQEWLETRGSPKSHIDKANFNNEKVILKLDYSDFQIVK
length: 99
go: ENSG00000119640;
opentargets: acylphosphatase activity [GO:0003998]; phosphate-containing compound metabolic process [GO:0006796]
name:
Acylphosphatase-1 (EC 3.6.1.7) (Acylphosphatase, erythrocyte isozyme) (Acylphosphatase, organ-common type isozyme) (Acylphosphate phosphohydrolase 1)

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P07311-1; Sequence=Displayed; Name=2; IsoId=P07311-2; Sequence=VSP_045688; Note=No experimental confirmation available.; 


uniprotID: Q01718
geneSymbol: MC2R
reactome: R-HSA-375276;R-HSA-418555;R-HSA-5579031;
length: 297
go: ENSG00000185231;
drug: DB01285;DB01284;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Adrenocorticotropic hormone receptor (ACTH receptor) (ACTH-R) (Adrenocorticotropin receptor) (Melanocortin receptor 2) (MC2-R)

sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; corticotropin receptor activity [GO:0004978]; melanocortin receptor activity [GO:0004977]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; placenta development [GO:0001890]

snps:
rs28926178 rs104894658 rs768093045 rs104894661 rs104894656 rs104894657 rs104894660 rs758709668 rs104894662 rs28940892 rs28926182 


uniprotID: P35318
geneSymbol: ADM
reactome: R-HSA-418555;R-HSA-419812;
pdb: 2FLY;2L7S;4RWF;5V6Y;
length: 185
go: ENSG00000148926;
snps: rs5005 rs2228573
location: SUBCELLULAR LOCATION: Secreted.
name:
ADM [Cleaved into: Adrenomedullin (AM); Proadrenomedullin N-20 terminal peptide (ProAM N-terminal 20 peptide) (PAMP) (ProAM-N20)]

sequence:
MKLVSVALMYLGSLAFLGADTARLDVASEFRKKWNKWALSRGKRELRMSSSYPTGLADVKAGPAQTLIRPQDMKGASRSPEDSSPDAARIRVKRYRQSMNNFQGLRSFGCRFGTCTVQKLAHQIYQFTDKDKDNVAPRSKISPQGYGRRRRRSLPEAGPGRTLVSSKPQAHGAPAPPSGSAPHFL

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; adrenomedullin receptor binding [GO:0031700]; hormone activity [GO:0005179]; signaling receptor binding [GO:0005102]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; adrenomedullin receptor signaling pathway [GO:1990410]; aging [GO:0007568]; amylin receptor signaling pathway [GO:0097647]; androgen metabolic process [GO:0008209]; animal organ regeneration [GO:0031100]; antibacterial humoral response [GO:0019731]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; blood circulation [GO:0008015]; branching involved in labyrinthine layer morphogenesis [GO:0060670]; cAMP biosynthetic process [GO:0006171]; cell-cell signaling [GO:0007267]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; developmental growth [GO:0048589]; female pregnancy [GO:0007565]; G protein-coupled receptor internalization [GO:0002031]; G protein-coupled receptor signaling pathway [GO:0007186]; heart development [GO:0007507]; hormone secretion [GO:0046879]; negative regulation of cell proliferation [GO:0008285]; negative regulation of vascular permeability [GO:0043116]; negative regulation of vasoconstriction [GO:0045906]; neural tube closure [GO:0001843]; neuron projection regeneration [GO:0031102]; odontogenesis of dentin-containing tooth [GO:0042475]; positive regulation of angiogenesis [GO:0045766]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of heart rate [GO:0010460]; positive regulation of vasculogenesis [GO:2001214]; progesterone biosynthetic process [GO:0006701]; receptor internalization [GO:0031623]; regulation of systemic arterial blood pressure [GO:0003073]; regulation of the force of heart contraction [GO:0002026]; regulation of urine volume [GO:0035809]; response to cold [GO:0009409]; response to glucocorticoid [GO:0051384]; response to hypoxia [GO:0001666]; response to insulin [GO:0032868]; response to lipopolysaccharide [GO:0032496]; response to starvation [GO:0042594]; response to wounding [GO:0009611]; signal transduction [GO:0007165]; spongiotrophoblast layer development [GO:0060712]; vascular smooth muscle cell development [GO:0097084]; vasculogenesis [GO:0001570]


uniprotID: Q8TC94
geneSymbol: ACTL9
name: Actin-like protein 9
length: 416
opentargets: cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]
snps: rs2340550 rs10410943 rs4804079
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}.
sequence:


uniprotID: Q9NPF8
geneSymbol: ADAP2
name: Arf-GAP with dual PH domain-containing protein 2 (Centaurin-alpha-2) (Cnt-a2)
length: 381
go: ENSG00000184060;
sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrial envelope [GO:0005740]; plasma membrane [GO:0005886]; GTPase activator activity [GO:0005096]; inositol 1,3,4,5 tetrakisphosphate binding [GO:0043533]; metal ion binding [GO:0046872]; phosphatidylinositol-3,4,5-trisphosphate binding [GO:0005547]; phosphatidylinositol-3,4-bisphosphate binding [GO:0043325]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; protein binding, bridging [GO:0030674]; heart development [GO:0007507]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NPF8-1; Sequence=Displayed; Name=2; IsoId=Q9NPF8-2; Sequence=VSP_011180; Note=May be due to a competing acceptor splice site. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14690521}. Cell membrane {ECO:0000269|PubMed:14690521}. Note=Constitutively associated with the plasma membrane. Excluded from the nucleus.


uniprotID: P49748
geneSymbol: ACADVL
reactome: R-HSA-381038;R-HSA-77305;
pdb: 2UXW;3B96;
name: Very long-chain specific acyl-CoA dehydrogenase, mitochondrial (VLCAD) (EC 1.3.8.9)
length: 655
go: ENSG00000072778;
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane.
sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial inner membrane [GO:0005743]; mitochondrial matrix [GO:0005759]; mitochondrial membrane [GO:0031966]; mitochondrial nucleoid [GO:0042645]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; nucleus [GO:0005634]; acyl-CoA dehydrogenase activity [GO:0003995]; fatty-acyl-CoA binding [GO:0000062]; flavin adenine dinucleotide binding [GO:0050660]; long-chain-acyl-CoA dehydrogenase activity [GO:0004466]; very-long-chain-acyl-CoA dehydrogenase activity [GO:0017099]; energy derivation by oxidation of organic compounds [GO:0015980]; epithelial cell differentiation [GO:0030855]; fatty acid beta-oxidation [GO:0006635]; fatty acid beta-oxidation using acyl-CoA dehydrogenase [GO:0033539]; IRE1-mediated unfolded protein response [GO:0036498]; negative regulation of fatty acid biosynthetic process [GO:0045717]; negative regulation of fatty acid oxidation [GO:0046322]; regulation of cholesterol metabolic process [GO:0090181]; response to cold [GO:0009409]; temperature homeostasis [GO:0001659]

snps:
rs2230179 rs2230178 rs28934585 rs746688190 rs369560930 rs545215807 rs140629318 rs113994168 rs113994167 rs866464446 rs200573371 rs774716484 rs398123095 rs1051701 rs771874163 rs112406105 rs118204015 rs2309689 rs118204016 rs138058572 rs794727112 rs118204017 rs766742117 rs200366828 rs398123083 rs113994170 rs759775666 rs2230180 rs118204014 rs148584617 rs13383 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P49748-1; Sequence=Displayed; Name=2; IsoId=P49748-2; Sequence=VSP_007734; Note=No experimental confirmation available.; Name=3; IsoId=P49748-3; Sequence=VSP_046031; Note=No experimental confirmation available.; 


uniprotID: P28332
geneSymbol: ADH6
reactome: R-HSA-71384;
name: Alcohol dehydrogenase 6 (EC 1.1.1.1)
length: 368
go: ENSG00000172955;
drug: DB01048;DB00898;DB00157;
snps: rs28720152 rs28720153 rs34582580
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; alcohol dehydrogenase (NAD) activity [GO:0004022]; alcohol dehydrogenase activity, zinc-dependent [GO:0004024]; zinc ion binding [GO:0008270]; ethanol oxidation [GO:0006069]; response to ethanol [GO:0045471]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P28332-1; Sequence=Displayed; Name=2; IsoId=P28332-2; Sequence=VSP_037702; 


uniprotID: Q9NZK5
geneSymbol: ADA2
reactome: R-HSA-5683826;R-HSA-6798695;
pdb: 3LGD;3LGG;
name: Adenosine deaminase 2 (EC 3.5.4.4) (Cat eye syndrome critical region protein 1)
length: 511
go: ENSG00000093072;
sequence:

opentargets:
azurophil granule lumen [GO:0035578]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; adenosine deaminase activity [GO:0004000]; adenosine receptor binding [GO:0031685]; growth factor activity [GO:0008083]; heparin binding [GO:0008201]; protein homodimerization activity [GO:0042803]; proteoglycan binding [GO:0043394]; zinc ion binding [GO:0008270]; adenosine catabolic process [GO:0006154]; cellular protein metabolic process [GO:0044267]; inosine biosynthetic process [GO:0046103]; multicellular organism development [GO:0007275]; neutrophil degranulation [GO:0043312]

snps:
rs202134424 rs200930463 rs587777240 rs587777241 rs77563738 rs148936893 rs587777242 rs2231495 rs376785840 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NZK5-1; Sequence=Displayed; Name=2; IsoId=Q9NZK5-2; Sequence=VSP_041509, VSP_041510; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:15926889, ECO:0000269|PubMed:20147294, ECO:0000269|PubMed:20453107}.


uniprotID: P55197
geneSymbol: MLLT10
pdb: 5DAG;5DAH;6CKN;6CKO;
name: Protein AF-10 (ALL1-fused gene from chromosome 10 protein)
length: 1068
go: ENSG00000078403;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10860745}.
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; histone binding [GO:0042393]; metal ion binding [GO:0046872]; nucleosome binding [GO:0031491]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=4; IsoId=P55197-4; Sequence=Displayed; Name=1; IsoId=P55197-1; Sequence=VSP_047517, VSP_047518, VSP_047519; Name=2; IsoId=P55197-2; Sequence=VSP_043044, VSP_043045; Note=No experimental confirmation available.; Name=3; IsoId=P55197-3; Sequence=VSP_044552, VSP_044553; Note=No experimental confirmation available.; 


uniprotID: P02708
geneSymbol: CHRNA1
reactome: R-HSA-629594;R-HSA-629597;
pdb: 1Y5P;1Y5T;1Y6C;4ZJS;5HBT;
name: Acetylcholine receptor subunit alpha
length: 482
go: ENSG00000138435;
drug: DB08838;DB00674;
sequence:

opentargets:
acetylcholine-gated channel complex [GO:0005892]; cell junction [GO:0030054]; cell surface [GO:0009986]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic specialization membrane [GO:0099060]; neuromuscular junction [GO:0031594]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; synapse [GO:0045202]; acetylcholine binding [GO:0042166]; acetylcholine receptor activity [GO:0015464]; acetylcholine-gated cation-selective channel activity [GO:0022848]; ion channel activity [GO:0005216]; ligand-gated ion channel activity [GO:0015276]; transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential [GO:1904315]; chemical synaptic transmission [GO:0007268]; ion transmembrane transport [GO:0034220]; muscle cell cellular homeostasis [GO:0046716]; musculoskeletal movement [GO:0050881]; nervous system process [GO:0050877]; neuromuscular junction development [GO:0007528]; neuromuscular process [GO:0050905]; neuromuscular synaptic transmission [GO:0007274]; neuron cellular homeostasis [GO:0070050]; neuronal action potential [GO:0019228]; regulation of membrane potential [GO:0042391]; response to nicotine [GO:0035094]; signal transduction [GO:0007165]; skeletal muscle contraction [GO:0003009]; skeletal muscle tissue growth [GO:0048630]; synaptic transmission, cholinergic [GO:0007271]

snps:
rs137852807 rs137852801 rs137852799 rs137852809 rs137852798 rs137852805 rs137852803 rs137852800 rs137852806 rs137852802 rs137852804 rs6739001 rs137852808 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2; IsoId=P02708-1; Sequence=Displayed; Name=1; IsoId=P02708-2; Sequence=VSP_000071; 

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


uniprotID: Q8TDG2
geneSymbol: ACTRT1
name: Actin-related protein T1 (ARP-T1)
length: 376
go: ENSG00000123165;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; negative regulation of transcription, DNA-templated [GO:0045892]; regulation of smoothened signaling pathway [GO:0008589]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305|PubMed:28869610}. Cytoplasm {ECO:0000269|PubMed:28869610}. Nucleus {ECO:0000269|PubMed:28869610}. Note=Both detected in the nucleus and cytoplasm, localizes to the nucleus where it binds chromatin upon stimulation of the Hedgehog pathway. {ECO:0000269|PubMed:28869610}.


uniprotID: Q6ZN18
geneSymbol: AEBP2
reactome: R-HSA-212300;R-HSA-3214841;
pdb: 5WAI;5Y0U;5Y1U;6C23;6C24;
name: Zinc finger protein AEBP2 (Adipocyte enhancer-binding protein 2) (AE-binding protein 2)
length: 517
go: ENSG00000139154;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
ESC/E(Z) complex [GO:0035098]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; 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 corepressor activity [GO:0003714]; chromatin organization [GO:0006325]; negative regulation of gene expression, epigenetic [GO:0045814]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6ZN18-1; Sequence=Displayed; Name=2; IsoId=Q6ZN18-2; Sequence=VSP_034359; Name=3; IsoId=Q6ZN18-3; Sequence=VSP_034357, VSP_034358; 


uniprotID: Q9H6R3
geneSymbol: ACSS3
reactome: R-HSA-77111;
length: 686
go: ENSG00000111058;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
name:
Acyl-CoA synthetase short-chain family member 3, mitochondrial (EC 6.2.1.1) (Acyl-CoA synthetase short-chain family member 3)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; acetate-CoA ligase activity [GO:0003987]; ATP binding [GO:0005524]; ketone body biosynthetic process [GO:0046951]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H6R3-1; Sequence=Displayed; Name=2; IsoId=Q9H6R3-2; Sequence=VSP_031692; 


uniprotID: Q3I5F7
geneSymbol: ACOT6
reactome: R-HSA-390247;
name: Putative acyl-coenzyme A thioesterase 6 (Putative acyl-CoA thioesterase 6) (EC 3.1.2.-)
length: 207
go: ENSG00000205669;
snps: rs17782052
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16940157}.
sequence:

opentargets:
cytosol [GO:0005829]; peroxisomal matrix [GO:0005782]; acyl-CoA hydrolase activity [GO:0047617]; carboxylic ester hydrolase activity [GO:0052689]; acyl-CoA metabolic process [GO:0006637]; fatty acid metabolic process [GO:0006631]


uniprotID: Q99965
geneSymbol: ADAM2
reactome: R-HSA-1300644;
length: 735
go: ENSG00000104755;
snps: rs34800519
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Disintegrin and metalloproteinase domain-containing protein 2 (ADAM 2) (Cancer/testis antigen 15) (CT15) (Fertilin subunit beta) (PH-30) (PH30) (PH30-beta)

sequence:

opentargets:
cell surface [GO:0009986]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; integrin binding [GO:0005178]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237]; adult behavior [GO:0030534]; binding of sperm to zona pellucida [GO:0007339]; cell adhesion [GO:0007155]; fusion of sperm to egg plasma membrane involved in single fertilization [GO:0007342]; positive regulation of gene expression [GO:0010628]; visual learning [GO:0008542]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q99965-1; Sequence=Displayed; Name=2; IsoId=Q99965-2; Sequence=VSP_005471; Note=No experimental confirmation available.; 


uniprotID: O43707
geneSymbol: ACTN4
reactome: R-HSA-114608;R-HSA-373753;
pdb: 1WLX;1YDI;2R0O;
name: Alpha-actinin-4 (Non-muscle alpha-actinin 4)
length: 911
go: ENSG00000130402;
snps: rs121908415 rs121908416 rs121908417 rs112545413 rs201128110 rs771421233 rs141727248
sequence:

opentargets:
brush border [GO:0005903]; cell-cell junction [GO:0005911]; cortical cytoskeleton [GO:0030863]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; focal adhesion [GO:0005925]; intracellular [GO:0005622]; neuron projection [GO:0043005]; nuclear body [GO:0016604]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; platelet alpha granule lumen [GO:0031093]; protein-containing complex [GO:0032991]; pseudopodium [GO:0031143]; ribonucleoprotein complex [GO:1990904]; stress fiber [GO:0001725]; Z disc [GO:0030018]; actin binding [GO:0003779]; actin filament binding [GO:0051015]; calcium ion binding [GO:0005509]; chromatin DNA binding [GO:0031490]; integrin binding [GO:0005178]; ion channel binding [GO:0044325]; nuclear hormone receptor binding [GO:0035257]; nuclear receptor transcription coactivator activity [GO:0030374]; nucleoside binding [GO:0001882]; protein homodimerization activity [GO:0042803]; protein N-terminus binding [GO:0047485]; retinoic acid receptor binding [GO:0042974]; RNA binding [GO:0003723]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; actin filament bundle assembly [GO:0051017]; bicellular tight junction assembly [GO:0070830]; negative regulation of cellular component movement [GO:0051271]; negative regulation of substrate adhesion-dependent cell spreading [GO:1900025]; peroxisome proliferator activated receptor signaling pathway [GO:0035357]; platelet degranulation [GO:0002576]; positive regulation of cell migration [GO:0030335]; positive regulation of cellular component movement [GO:0051272]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; positive regulation of pinocytosis [GO:0048549]; positive regulation of sodium:proton antiporter activity [GO:0032417]; protein localization to bicellular tight junction [GO:1902396]; protein transport [GO:0015031]; regulation of apoptotic process [GO:0042981]; regulation of nucleic acid-templated transcription [GO:1903506]; response to hypoxia [GO:0001666]; retinoic acid receptor signaling pathway [GO:0048384]; vesicle transport along actin filament [GO:0030050]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O43707-1; Sequence=Displayed; Name=ACTN4ISO; IsoId=O43707-2; Sequence=VSP_047733; Note=Does not colocalize with actin cytoskeleton structures. {ECO:0000269|PubMed:22567897}; Name=3; IsoId=O43707-3; Sequence=VSP_053401; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:22351778, ECO:0000269|PubMed:9508771}. Cytoplasm {ECO:0000269|PubMed:22351778, ECO:0000269|PubMed:9508771}. Cell junction {ECO:0000250|UniProtKB:P57780}. Cytoplasm, cytoskeleton, stress fiber {ECO:0000269|PubMed:9508771}. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. Nuclear translocation can be induced by the PI3 kinase inhibitor wortmannin or by cytochalasin D. Exclusively localized in the nucleus in a limited number of cell lines (breast cancer cell line MCF-7, oral floor cancer IMC-2, and bladder cancer KU-7). {ECO:0000269|PubMed:17289661, ECO:0000269|PubMed:9508771}.


uniprotID: Q7Z695
geneSymbol: ADCK2
name: Uncharacterized aarF domain-containing protein kinase 2 (EC 2.7.11.-)
length: 626
go: ENSG00000133597;
snps: rs2968558 rs1140034 rs3748092 rs3748092 rs1046515 rs55922126
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; ATP binding [GO:0005524]; protein serine/threonine kinase activity [GO:0004674]


uniprotID: Q68CK6
geneSymbol: ACSM2B
reactome: R-HSA-177128;R-HSA-177135;R-HSA-177162;
length: 577
go: ENSG00000066813;
name:
Acyl-coenzyme A synthetase ACSM2B, mitochondrial (EC 6.2.1.2) (Acyl-CoA synthetase medium-chain family member 2B) (Butyrate--CoA ligase 2B) (Butyryl-coenzyme A synthetase 2B) (Middle-chain acyl-CoA synthetase 2B) (Xenobiotic/medium-chain fatty acid-CoA ligase HXM-A)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; acyl-CoA ligase activity [GO:0003996]; ATP binding [GO:0005524]; butyrate-CoA ligase activity [GO:0047760]; CoA-ligase activity [GO:0016405]; fatty acid ligase activity [GO:0015645]; fatty-acyl-CoA synthase activity [GO:0004321]; metal ion binding [GO:0046872]; acyl-CoA metabolic process [GO:0006637]; fatty acid biosynthetic process [GO:0006633]; xenobiotic metabolic process [GO:0006805]

location:
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:10434065, ECO:0000269|PubMed:12616642, ECO:0000269|PubMed:19634011}.


uniprotID: Q8TED9
geneSymbol: AFAP1L1
name: Actin filament-associated protein 1-like 1 (AFAP1-like protein 1)
length: 768
go: ENSG00000157510;
sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; invadopodium [GO:0071437]; podosome [GO:0002102]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8TED9-1; Sequence=Displayed; Name=2; IsoId=Q8TED9-2; Sequence=VSP_026859; Note=No experimental confirmation available.; Name=3; IsoId=Q8TED9-3; Sequence=VSP_026857, VSP_026858; Note=No experimental confirmation available.; Name=4; IsoId=Q8TED9-4; Sequence=VSP_026856; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21333378}. Cell projection, podosome {ECO:0000269|PubMed:21333378}. Cell projection, invadopodium {ECO:0000269|PubMed:21333378}. Cytoplasm, cytoskeleton, stress fiber {ECO:0000269|PubMed:21333378}.


uniprotID: P63261
geneSymbol: ACTG1
pdb: 5JLH;
name: Actin, cytoplasmic 2 (Gamma-actin) [Cleaved into: Actin, cytoplasmic 2, N-terminally processed]
length: 375
go: ENSG00000184009;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:28493397}.
reactome:
R-HSA-1445148;R-HSA-190873;R-HSA-196025;R-HSA-2029482;R-HSA-3928662;R-HSA-3928665;R-HSA-418990;R-HSA-437239;R-HSA-4420097;R-HSA-445095;R-HSA-446353;R-HSA-5626467;R-HSA-5663213;R-HSA-5663220;R-HSA-5674135;R-HSA-6802946;R-HSA-6802948;R-HSA-6802949;R-HSA-6802952;R-HSA-6802955;R-HSA-8856828;

sequence:

opentargets:
actin filament [GO:0005884]; blood microparticle [GO:0072562]; calyx of Held [GO:0044305]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; dense body [GO:0097433]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; filamentous actin [GO:0031941]; focal adhesion [GO:0005925]; membrane [GO:0016020]; myelin sheath [GO:0043209]; myofibril [GO:0030016]; nucleus [GO:0005634]; phagocytic vesicle [GO:0045335]; plasma membrane [GO:0005886]; Schaffer collateral - CA1 synapse [GO:0098685]; ATP binding [GO:0005524]; identical protein binding [GO:0042802]; profilin binding [GO:0005522]; structural constituent of cytoskeleton [GO:0005200]; ubiquitin protein ligase binding [GO:0031625]; cell junction assembly [GO:0034329]; cellular response to interferon-gamma [GO:0071346]; ephrin receptor signaling pathway [GO:0048013]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; membrane organization [GO:0061024]; platelet aggregation [GO:0070527]; retina homeostasis [GO:0001895]; sarcomere organization [GO:0045214]; synaptic vesicle endocytosis [GO:0048488]

snps:
rs28999111 rs104894544 rs267606630 rs281875325 rs281875330 rs11549190 rs281875326 rs11549206 rs281875327 rs267606631 rs281875328 rs281875329 rs104894546 rs28999112 rs104894545 rs104894547 


uniprotID: P60709
geneSymbol: ACTB
pdb: 3BYH;3D2U;3J82;3LUE;6ANU;
name: Actin, cytoplasmic 1 (Beta-actin) [Cleaved into: Actin, cytoplasmic 1, N-terminally processed]
length: 375
go: ENSG00000075624;
snps: rs281875331 rs281875332 rs104894003 rs281875333 rs281875334 rs11546899
reactome:
R-HSA-1445148;R-HSA-190873;R-HSA-196025;R-HSA-2029482;R-HSA-3214847;R-HSA-389957;R-HSA-390450;R-HSA-3928662;R-HSA-3928665;R-HSA-418990;R-HSA-437239;R-HSA-4420097;R-HSA-445095;R-HSA-446353;R-HSA-5250924;R-HSA-5626467;R-HSA-5663213;R-HSA-5663220;R-HSA-5674135;R-HSA-5689603;R-HSA-5696394;R-HSA-6802946;R-HSA-6802948;R-HSA-6802949;R-HSA-6802952;R-HSA-6802955;R-HSA-8856828;R-HSA-983231;

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; blood microparticle [GO:0072562]; cytoplasm [GO:0005737]; cytoplasmic ribonucleoprotein granule [GO:0036464]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; dense body [GO:0097433]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; focal adhesion [GO:0005925]; glutamatergic synapse [GO:0098978]; membrane [GO:0016020]; NuA4 histone acetyltransferase complex [GO:0035267]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; postsynaptic actin cytoskeleton [GO:0098871]; presynapse [GO:0098793]; protein-containing complex [GO:0032991]; ribonucleoprotein complex [GO:1990904]; vesicle [GO:0031982]; ATP binding [GO:0005524]; identical protein binding [GO:0042802]; kinesin binding [GO:0019894]; nitric-oxide synthase binding [GO:0050998]; protein kinase binding [GO:0019901]; structural constituent of cytoskeleton [GO:0005200]; structural constituent of postsynaptic actin cytoskeleton [GO:0098973]; Tat protein binding [GO:0030957]; ATP-dependent chromatin remodeling [GO:0043044]; cell junction assembly [GO:0034329]; cell motility [GO:0048870]; cellular response to cytochalasin B [GO:0072749]; ephrin receptor signaling pathway [GO:0048013]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; membrane organization [GO:0061024]; negative regulation of protein binding [GO:0032091]; platelet aggregation [GO:0070527]; positive regulation of gene expression, epigenetic [GO:0045815]; positive regulation of norepinephrine uptake [GO:0051623]; postsynaptic actin cytoskeleton organization [GO:0098974]; protein deubiquitination [GO:0016579]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; regulation of norepinephrine uptake [GO:0051621]; regulation of protein localization to plasma membrane [GO:1903076]; regulation of transmembrane transporter activity [GO:0022898]; retina homeostasis [GO:0001895]; substantia nigra development [GO:0021762]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:11687588, ECO:0000269|PubMed:17289661}. Nucleus {ECO:0000269|PubMed:11687588, ECO:0000269|PubMed:29925947}. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. {ECO:0000269|PubMed:17289661}.


uniprotID: P54922
geneSymbol: ADPRH
pdb: 3HFW;
length: 357
go: ENSG00000144843;
name:
[Protein ADP-ribosylarginine] hydrolase (ADP-ribosylarginine hydrolase) (EC 3.2.2.19) (ADP-ribose-L-arginine cleaving enzyme)

sequence:

opentargets:
intracellular [GO:0005622]; ADP-ribosylarginine hydrolase activity [GO:0003875]; GTPase activator activity [GO:0005096]; magnesium ion binding [GO:0000287]; potassium ion binding [GO:0030955]; Rab GTPase binding [GO:0017137]; activation of GTPase activity [GO:0090630]; cellular protein modification process [GO:0006464]; intracellular protein transport [GO:0006886]; protein de-ADP-ribosylation [GO:0051725]


uniprotID: Q8NEB7
geneSymbol: ACRBP
length: 543
go: ENSG00000111644;
snps: rs3741923
name:
Acrosin-binding protein (Cancer/testis antigen 23) (CT23) (Cancer/testis antigen OY-TES-1) (Proacrosin-binding protein sp32)

sequence:

opentargets:
acrosomal membrane [GO:0002080]; acrosomal vesicle [GO:0001669]; extracellular region [GO:0005576]; nucleus [GO:0005634]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:Q29016}. Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000250|UniProtKB:Q29016, ECO:0000250|UniProtKB:Q3V140}.


uniprotID: Q8IZF5
geneSymbol: ADGRF3
length: 1079
go: ENSG00000173567;
snps: rs2052937
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}.
name:
Adhesion G-protein coupled receptor F3 (G-protein coupled receptor 113) (G-protein coupled receptor PGR23)

sequence:

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

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IZF5-1; Sequence=Displayed; Name=2; IsoId=Q8IZF5-2; Sequence=VSP_012815, VSP_012816, VSP_012817; Name=3; IsoId=Q8IZF5-3; Sequence=VSP_046174, VSP_046175; Note=No experimental confirmation available.; 


uniprotID: P78325
geneSymbol: ADAM8
reactome: R-HSA-1474228;R-HSA-6798695;
pdb: 4DD8;
length: 824
go: ENSG00000151651;
snps: rs2275725 rs11101675 rs45451297 rs12257830 rs2275720 rs3008319
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Disintegrin and metalloproteinase domain-containing protein 8 (ADAM 8) (EC 3.4.24.-) (Cell surface antigen MS2) (CD antigen CD156a)

sequence:

opentargets:
alpha9-beta1 integrin-ADAM8 complex [GO:0071133]; cell surface [GO:0009986]; cytoplasm [GO:0005737]; dense core granule membrane [GO:0032127]; ficolin-1-rich granule membrane [GO:0101003]; integral component of plasma membrane [GO:0005887]; phagolysosome [GO:0032010]; plasma membrane [GO:0005886]; podosome [GO:0002102]; specific granule [GO:0042581]; specific granule membrane [GO:0035579]; tertiary granule [GO:0070820]; tertiary granule membrane [GO:0070821]; calcium ion binding [GO:0005509]; cell adhesion molecule binding [GO:0050839]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237]; protein self-association [GO:0043621]; serine-type endopeptidase activity [GO:0004252]; zinc ion binding [GO:0008270]; angiogenesis [GO:0001525]; cell morphogenesis [GO:0000902]; cell-cell adhesion [GO:0098609]; cellular response to hypoxia [GO:0071456]; extracellular matrix disassembly [GO:0022617]; inflammatory response [GO:0006954]; leukocyte migration involved in inflammatory response [GO:0002523]; lymphocyte chemotaxis [GO:0048247]; negative regulation of neuron apoptotic process [GO:0043524]; neutrophil degranulation [GO:0043312]; positive regulation of acute inflammatory response [GO:0002675]; positive regulation of bone resorption [GO:0045780]; positive regulation of cell adhesion [GO:0045785]; positive regulation of eosinophil migration [GO:2000418]; positive regulation of fibronectin-dependent thymocyte migration [GO:2000415]; positive regulation of innate immune response [GO:0045089]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of membrane protein ectodomain proteolysis [GO:0051044]; positive regulation of neutrophil extravasation [GO:2000391]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of protein processing [GO:0010954]; positive regulation of protein secretion [GO:0050714]; positive regulation of T cell differentiation in thymus [GO:0033089]; positive regulation of thymocyte apoptotic process [GO:0070245]; positive regulation of tumor necrosis factor (ligand) superfamily member 11 production [GO:2000309]; regulation of cell-cell adhesion [GO:0022407]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P78325-1; Sequence=Displayed; Name=2; IsoId=P78325-2; Sequence=VSP_046154, VSP_046155, VSP_046156, VSP_046159; Note=No experimental confirmation available. {ECO:0000305}; Name=3; IsoId=P78325-3; Sequence=VSP_046157, VSP_046158; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: P51825
geneSymbol: AFF1
pdb: 2LM0;
length: 1210
go: ENSG00000172493;
snps: rs3733378
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
AF4/FMR2 family member 1 (ALL1-fused gene from chromosome 4 protein) (Protein AF-4) (Protein FEL) (Proto-oncogene AF4)

sequence:

opentargets:
ELL-EAF complex [GO:0032783]; nucleus [GO:0005634]; transcription elongation factor complex [GO:0008023]; DNA-binding transcription factor activity [GO:0003700]; double-stranded DNA binding [GO:0003690]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P51825-1; Sequence=Displayed; Name=2; IsoId=P51825-2; Sequence=VSP_046095, VSP_046096; Note=No experimental confirmation available.; Name=3; IsoId=P51825-3; Sequence=VSP_046096; 


uniprotID: Q9H2P0
geneSymbol: ADNP
name: Activity-dependent neuroprotector homeobox protein (Activity-dependent neuroprotective protein)
length: 1102
go: ENSG00000101126;
snps: rs780706686
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; dendrite [GO:0030425]; extracellular space [GO:0005615]; neuronal cell body [GO:0043025]; nucleus [GO:0005634]; beta-tubulin binding [GO:0048487]; chromatin binding [GO:0003682]; copper ion binding [GO:0005507]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; peptide binding [GO:0042277]; activation of protein kinase activity [GO:0032147]; cellular response to extracellular stimulus [GO:0031668]; cGMP-mediated signaling [GO:0019934]; estrous cycle [GO:0044849]; negative regulation of gene expression [GO:0010629]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of protein binding [GO:0032091]; negative regulation of synaptic transmission [GO:0050805]; nitric oxide homeostasis [GO:0033484]; positive regulation of axon extension [GO:0045773]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of synapse assembly [GO:0051965]; regulation of protein ADP-ribosylation [GO:0010835]; response to carbohydrate [GO:0009743]; response to inorganic substance [GO:0010035]; short-term memory [GO:0007614]


uniprotID: Q9UKF2
geneSymbol: ADAM30
reactome: R-HSA-1300644;
name: Disintegrin and metalloproteinase domain-containing protein 30 (ADAM 30) (EC 3.4.24.-)
length: 790
go: ENSG00000134249;
snps: rs2641348 rs35273427
sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; late endosome membrane [GO:0031902]; plasma membrane [GO:0005886]; sperm head plasma membrane [GO:1990913]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237]; zinc ion binding [GO:0008270]; binding of sperm to zona pellucida [GO:0007339]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Alpha; IsoId=Q9UKF2-1; Sequence=Displayed; Name=Beta; IsoId=Q9UKF2-2; Sequence=VSP_005494; 

location:
SUBCELLULAR LOCATION: Late endosome membrane {ECO:0000269|PubMed:27333034}; Single-pass type I membrane protein {ECO:0000255}.


uniprotID: Q5I7T1
geneSymbol: ALG10B
reactome: R-HSA-446193;
length: 473
go: ENSG00000175548;
snps: rs6582584 rs57963306 rs61730283
name:
Putative Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase (EC 2.4.1.256) (Alpha-1,2-glucosyltransferase ALG10-A) (Alpha-2-glucosyltransferase ALG10-B) (Asparagine-linked glycosylation protein 10 homolog B) (Potassium channel regulator 1)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; dolichyl pyrophosphate Glc2Man9GlcNAc2 alpha-1,2-glucosyltransferase activity [GO:0106073]; dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity [GO:0004583]; transferase activity [GO:0016740]; dolichol-linked oligosaccharide biosynthetic process [GO:0006488]; positive regulation of inward rectifier potassium channel activity [GO:1901980]; positive regulation of protein glycosylation [GO:0060050]; protein glycosylation [GO:0006486]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:O88788}; Multi-pass membrane protein {ECO:0000250|UniProtKB:O88788}.


uniprotID: Q9Y3Q7
geneSymbol: ADAM18
length: 739
go: ENSG00000168619;
snps: rs267601916 rs10093794 rs267601918
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Disintegrin and metalloproteinase domain-containing protein 18 (ADAM 18) (Transmembrane metalloproteinase-like, disintegrin-like, and cysteine-rich protein III) (tMDC III)

sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237]; cell differentiation [GO:0030154]; multicellular organism development [GO:0007275]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y3Q7-1; Sequence=Displayed; Name=2; IsoId=Q9Y3Q7-2; Sequence=VSP_012033; Name=3; IsoId=Q9Y3Q7-3; Sequence=VSP_043285, VSP_043286; Note=No experimental confirmation available.; 


uniprotID: P55196
geneSymbol: AFDN
reactome: R-HSA-418990;
pdb: 1T2M;1XZ9;2AIN;2EXG;5A6C;
length: 1824
go: ENSG00000130396;
location: SUBCELLULAR LOCATION: Cell junction, adherens junction. Note=Not found at cell-matrix AJs.
name:
Afadin (ALL1-fused gene from chromosome 6 protein) (Protein AF-6) (Afadin adherens junction formation factor)

sequence:

opentargets:
cell junction [GO:0030054]; cell-cell adherens junction [GO:0005913]; cell-cell contact zone [GO:0044291]; cell-cell junction [GO:0005911]; cytosol [GO:0005829]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; tight junction [GO:0070160]; actin filament binding [GO:0051015]; cadherin binding [GO:0045296]; cell adhesion molecule binding [GO:0050839]; protein C-terminus binding [GO:0008022]; Ras GTPase binding [GO:0017016]; adherens junction organization [GO:0034332]; bicellular tight junction assembly [GO:0070830]; cell adhesion [GO:0007155]; cell-cell adhesion mediated by cadherin [GO:0044331]; cell-cell signaling [GO:0007267]; establishment of endothelial intestinal barrier [GO:0090557]; establishment of protein localization to plasma membrane [GO:0061951]; negative regulation of cell migration [GO:0030336]; positive regulation of cell-cell adhesion mediated by cadherin [GO:2000049]; positive regulation of GTPase activity [GO:0043547]; regulation of protein localization [GO:0032880]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=4; IsoId=P55196-4; Sequence=Displayed; Name=1; Synonyms=s-afadin; IsoId=P55196-2; Sequence=VSP_038707, VSP_038708, VSP_000217, VSP_000218; Note=May be due to intron retention. {ECO:0000305}; Name=2; Synonyms=l-afadin; IsoId=P55196-1; Sequence=VSP_038707, VSP_038708, VSP_038709, VSP_038711; Note=May be due to intron retention.; Name=3; IsoId=P55196-3; Sequence=VSP_038707, VSP_038708, VSP_038709, VSP_038710; Note=No experimental confirmation available.; Name=6; IsoId=P55196-6; Sequence=VSP_041197, VSP_041198, VSP_041199; Name=5; IsoId=P55196-5; Sequence=VSP_038707, VSP_019257; Note=No experimental confirmation available.; 


uniprotID: Q5T7M4
geneSymbol: C1QTNF12
length: 302
go: ENSG00000184163;
snps: rs7539412
name:
Adipolin (Adipose-derived insulin-sensitizing factor) (C1q and TNF related protein 12) (Complement C1q tumor necrosis factor-related protein 12) [Cleaved into: Adipolin fC1QTNF12 (Adipolin fCTRP12) (Adipolin full-length form); Adipolin gC1QTNF12 (Adipolin cleaved form) (Adipolin gCTRP12)]

sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; hormone activity [GO:0005179]; negative regulation of gluconeogenesis [GO:0045721]; negative regulation of inflammatory response [GO:0050728]; positive regulation of glucose import [GO:0046326]; positive regulation of insulin receptor signaling pathway [GO:0046628]; positive regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0035774]; positive regulation of protein kinase B signaling [GO:0051897]; regulation of glucose import [GO:0046324]; regulation of glucose metabolic process [GO:0010906]

location:
SUBCELLULAR LOCATION: Adipolin fC1QTNF12: Secreted {ECO:0000269|PubMed:22275362}.; SUBCELLULAR LOCATION: Adipolin gC1QTNF12: Secreted {ECO:0000269|PubMed:22275362}. Note=In sera is the predominant form. {ECO:0000269|PubMed:22275362}.


uniprotID: P62736
geneSymbol: ACTA2
reactome: R-HSA-445355;R-HSA-9013695;
length: 377
go: ENSG00000107796;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
name:
Actin, aortic smooth muscle (Alpha-actin-2) (Cell growth-inhibiting gene 46 protein) [Cleaved into: Actin, aortic smooth muscle, intermediate form]

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cell body [GO:0044297]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; filopodium [GO:0030175]; lamellipodium [GO:0030027]; protein-containing complex [GO:0032991]; smooth muscle contractile fiber [GO:0030485]; ATP binding [GO:0005524]; protein kinase binding [GO:0019901]; glomerular mesangial cell development [GO:0072144]; mesenchyme migration [GO:0090131]; muscle contraction [GO:0006936]; positive regulation of gene expression [GO:0010628]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of blood pressure [GO:0008217]; response to virus [GO:0009615]; vascular smooth muscle contraction [GO:0014829]

snps:
rs794728021 rs112602953 rs751300489 rs121434526 rs387906592 rs1057521105 rs1803028 rs397516685 rs121434528 rs121434527 rs1803027 rs777832794 rs1062398 


uniprotID: P05141
geneSymbol: SLC25A5
reactome: R-HSA-180897;R-HSA-422356;
length: 298
go: ENSG00000005022;
drug: DB00720;
snps: rs371749
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein.
name:
ADP/ATP translocase 2 (ADP,ATP carrier protein 2) (ADP,ATP carrier protein, fibroblast isoform) (Adenine nucleotide translocator 2) (ANT 2) (Solute carrier family 25 member 5) [Cleaved into: ADP/ATP translocase 2, N-terminally processed]

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; membrane raft [GO:0045121]; mitochondrial inner membrane [GO:0005743]; mitochondrial nucleoid [GO:0042645]; mitochondrion [GO:0005739]; MMXD complex [GO:0071817]; myelin sheath [GO:0043209]; nucleus [GO:0005634]; adenine transmembrane transporter activity [GO:0015207]; ATP:ADP antiporter activity [GO:0005471]; RNA binding [GO:0003723]; ubiquitin protein ligase binding [GO:0031625]; cellular response to leukemia inhibitory factor [GO:1990830]; chromosome segregation [GO:0007059]; negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway [GO:1901029]; positive regulation of cell proliferation [GO:0008284]; regulation of insulin secretion [GO:0050796]; viral process [GO:0016032]


uniprotID: Q53FZ2
geneSymbol: ACSM3
reactome: R-HSA-77352;
length: 586
go: ENSG00000005187;
snps: rs5713 rs13306603 rs7196188 rs5716
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250}.
name:
Acyl-coenzyme A synthetase ACSM3, mitochondrial (EC 6.2.1.2) (Acyl-CoA synthetase medium-chain family member 3) (Butyrate--CoA ligase 3) (Butyryl-coenzyme A synthetase 3) (Middle-chain acyl-CoA synthetase 3) (Protein SA homolog)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; acyl-CoA ligase activity [GO:0003996]; ATP binding [GO:0005524]; butyrate-CoA ligase activity [GO:0047760]; fatty acid ligase activity [GO:0015645]; fatty-acyl-CoA synthase activity [GO:0004321]; metal ion binding [GO:0046872]; acyl-CoA metabolic process [GO:0006637]; cholesterol homeostasis [GO:0042632]; fatty acid biosynthetic process [GO:0006633]; regulation of blood pressure [GO:0008217]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q53FZ2-1; Sequence=Displayed; Name=2; IsoId=Q53FZ2-2; Sequence=VSP_028395, VSP_028396; 


uniprotID: P0C7M7
geneSymbol: ACSM4
reactome: R-HSA-177128;
length: 580
go: ENSG00000215009;
snps: rs61584783
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250}.
name:
Acyl-coenzyme A synthetase ACSM4, mitochondrial (EC 6.2.1.2) (Acyl-CoA synthetase medium-chain family member 4)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; acyl-CoA ligase activity [GO:0003996]; ATP binding [GO:0005524]; butyrate-CoA ligase activity [GO:0047760]; fatty acid ligase activity [GO:0015645]; fatty-acyl-CoA synthase activity [GO:0004321]; metal ion binding [GO:0046872]; acyl-CoA metabolic process [GO:0006637]; fatty acid biosynthetic process [GO:0006633]


uniprotID: Q8WV93
geneSymbol: AFG1L
name: AFG1-like ATPase (Lactation elevated protein 1) (EC 3.6.-.-) (Protein AFG1 homolog)
length: 481
go: ENSG00000135537;
location: SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000269|PubMed:26759378}.
sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrial membrane [GO:0031966]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; mitochondrial electron transport, cytochrome c to oxygen [GO:0006123]; mitochondrial protein catabolic process [GO:0035694]; mitochondrion organization [GO:0007005]


uniprotID: P40145
geneSymbol: ADCY8
length: 1251
go: ENSG00000155897;
snps: rs2228949
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
reactome:
R-HSA-163359;R-HSA-163615;R-HSA-164378;R-HSA-170660;R-HSA-170670;R-HSA-381676;R-HSA-418555;R-HSA-418594;R-HSA-418597;R-HSA-432040;R-HSA-442720;R-HSA-5610787;

name:
Adenylate cyclase type 8 (EC 4.6.1.1) (ATP pyrophosphate-lyase 8) (Adenylate cyclase type VIII) (Adenylyl cyclase 8) (AC8) (Ca(2+)/calmodulin-activated adenylyl cyclase)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; axon [GO:0030424]; basolateral plasma membrane [GO:0016323]; dendrite [GO:0030425]; excitatory synapse [GO:0060076]; glutamatergic synapse [GO:0098978]; hippocampal mossy fiber to CA3 synapse [GO:0098686]; integral component of plasma membrane [GO:0005887]; integral component of presynaptic membrane [GO:0099056]; intracellular [GO:0005622]; membrane [GO:0016020]; neuronal cell body membrane [GO:0032809]; 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]; metal ion binding [GO:0046872]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; cAMP biosynthetic process [GO:0006171]; cellular response to glucagon stimulus [GO:0071377]; G protein-coupled receptor signaling pathway [GO:0007186]; glucose mediated signaling pathway [GO:0010255]; learning or memory [GO:0007611]; long-term memory [GO:0007616]; neuroinflammatory response [GO:0150076]; positive regulation of CREB transcription factor activity [GO:0032793]; positive regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0035774]; positive regulation of long-term synaptic depression [GO:1900454]; positive regulation of long-term synaptic potentiation [GO:1900273]; positive regulation of synaptic plasticity [GO:0031915]; regulation of cellular response to stress [GO:0080135]; regulation of cytosolic calcium ion concentration [GO:0051480]; renal water homeostasis [GO:0003091]; signal transduction [GO:0007165]


uniprotID: Q96P64
geneSymbol: AGAP4
length: 663
go: ENSG00000188234;
opentargets: nucleus [GO:0005634]; GTPase activator activity [GO:0005096]; metal ion binding [GO:0046872]
snps: rs15718
name:
Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 (AGAP-4) (Centaurin-gamma-like family member 1) (Centaurin-gamma-like family member 5)

sequence:


uniprotID: Q99996
geneSymbol: AKAP9
length: 3907
go: ENSG00000127914;
snps: rs6964587 rs121908566 rs35759833 rs6960867 rs1063242 rs756245027 rs34956633 rs34327395
reactome:
R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-438066;R-HSA-442729;R-HSA-442982;R-HSA-5576890;R-HSA-5576893;R-HSA-5620912;R-HSA-5673001;R-HSA-6802952;R-HSA-8854518;

name:
A-kinase anchor protein 9 (AKAP-9) (A-kinase anchor protein 350 kDa) (AKAP 350) (hgAKAP 350) (A-kinase anchor protein 450 kDa) (AKAP 450) (AKAP 120-like protein) (Centrosome- and Golgi-localized PKN-associated protein) (CG-NAP) (Protein hyperion) (Protein kinase A-anchoring protein 9) (PRKA9) (Protein yotiao)

sequence:

opentargets:
centrosome [GO:0005813]; cis-Golgi network [GO:0005801]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; dendritic branch [GO:0044307]; extrinsic component of postsynaptic density membrane [GO:0099147]; glutamatergic synapse [GO:0098978]; Golgi apparatus [GO:0005794]; Golgi stack [GO:0005795]; intracellular membrane-bounded organelle [GO:0043231]; neuronal cell body [GO:0043025]; synaptic membrane [GO:0097060]; voltage-gated potassium channel complex [GO:0008076]; DNA binding [GO:0003677]; ion channel binding [GO:0044325]; potassium channel regulator activity [GO:0015459]; protein kinase A regulatory subunit binding [GO:0034237]; protein-containing complex scaffold activity [GO:0032947]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; signaling receptor binding [GO:0005102]; cellular response to cAMP [GO:0071320]; chemical synaptic transmission [GO:0007268]; ciliary basal body-plasma membrane docking [GO:0097711]; G2/M transition of mitotic cell cycle [GO:0000086]; maintenance of centrosome location [GO:0051661]; MAPK cascade [GO:0000165]; microtubule nucleation [GO:0007020]; negative regulation of adenylate cyclase activity [GO:0007194]; positive regulation of microtubule polymerization [GO:0031116]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of potassium ion transmembrane transporter activity [GO:1901018]; regulation of cardiac muscle cell action potential involved in regulation of contraction [GO:0098909]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; regulation of Golgi organization [GO:1903358]; regulation of heart rate by cardiac conduction [GO:0086091]; regulation of membrane repolarization [GO:0060306]; regulation of postsynaptic neurotransmitter receptor activity [GO:0098962]; regulation of ventricular cardiac muscle cell membrane repolarization [GO:0060307]; response to electrical stimulus [GO:0051602]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=2; IsoId=Q99996-2; Sequence=Displayed; Name=1; IsoId=Q99996-1; Sequence=VSP_059522, VSP_059526; Note=No experimental confirmation available.; Name=3; Synonyms=CG-NAP; IsoId=Q99996-3; Sequence=VSP_059525; Name=4; Synonyms=Yotiao; IsoId=Q99996-4; Sequence=VSP_059522, VSP_059523, VSP_059524; Name=5; IsoId=Q99996-5; Sequence=VSP_059522, VSP_059527; Name=6; Synonyms=AKAP350; IsoId=Q99996-6; Sequence=VSP_059522, VSP_059525, VSP_059528; 

location:
SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000269|PubMed:15047863, ECO:0000269|PubMed:19242490, ECO:0000269|PubMed:25217626, ECO:0000269|PubMed:27666745}. Cytoplasm {ECO:0000269|PubMed:9915845}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:12270714, ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:25657325, ECO:0000269|PubMed:29162697, ECO:0000269|PubMed:9915845}. Note=Cytoplasmic in parietal cells (PubMed:9915845). Recruited to the Golgi apparatus by GM130/GOLGA2 (PubMed:25657325). Localization at the centrosome versus Golgi apparatus may be cell line-dependent. In SKBr3 and HEK293F cells, exclusively located at the centrosome (PubMed:29162697). In HeLa, MDA-MB231 and RPE-1 cells, detected at the Golgi apparatus (PubMed:25217626, PubMed:29162697). In SK-BR-3 cells, recruited to the centrosome in the presence of CDK5RAP2 (PubMed:29162697). {ECO:0000269|PubMed:25217626, ECO:0000269|PubMed:25657325, ECO:0000269|PubMed:29162697, ECO:0000269|PubMed:9915845}.


uniprotID: O95622
geneSymbol: ADCY5
length: 1261
go: ENSG00000173175;
drug: DB02587;
snps: rs864309483 rs796065306
reactome:
R-HSA-163359;R-HSA-163615;R-HSA-164378;R-HSA-170660;R-HSA-170670;R-HSA-381676;R-HSA-400042;R-HSA-418555;R-HSA-418594;R-HSA-418597;R-HSA-432040;R-HSA-5610787;

name:
Adenylate cyclase type 5 (EC 4.6.1.1) (ATP pyrophosphate-lyase 5) (Adenylate cyclase type V) (Adenylyl cyclase 5) (AC5)

sequence:

opentargets:
cilium [GO:0005929]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; intermediate filament cytoskeleton [GO:0045111]; plasma membrane [GO:0005886]; adenylate cyclase activity [GO:0004016]; adenylate cyclase binding [GO:0008179]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; protein heterodimerization activity [GO:0046982]; scaffold protein binding [GO:0097110]; adenosine receptor signaling pathway [GO:0001973]; adenylate cyclase-activating dopamine receptor signaling pathway [GO:0007191]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; adenylate cyclase-inhibiting dopamine receptor signaling pathway [GO:0007195]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; cAMP biosynthetic process [GO:0006171]; cellular response to forskolin [GO:1904322]; cellular response to glucagon stimulus [GO:0071377]; G protein-coupled receptor signaling pathway [GO:0007186]; locomotory behavior [GO:0007626]; neuromuscular process controlling balance [GO:0050885]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0061178]; renal water homeostasis [GO:0003091]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95622-1; Sequence=Displayed; Name=2; IsoId=O95622-2; Sequence=VSP_042914, VSP_042915; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305|PubMed:15385642, ECO:0000305|PubMed:26206488}; Multi-pass membrane protein. Cell projection, cilium {ECO:0000250|UniProtKB:P84309}.


uniprotID: A8MUL3
geneSymbol: ADARB2-AS1
length: 147
name:
Putative uncharacterized protein ADARB2-AS1 (ADARB2 antisense RNA 1) (ADARB2 antisense gene protein 1)

sequence:
MKQLFPPPPGTSLTHALGAWRGRERAQAATSLLASSASQFPTAVEDALMSVLTSHCAPSTPAATRAQQTGTRGHIHPACPCQQSCVGASRPPGRPQIFLPLTTALSLEAYAADTCSAADFLHNPSSWGKVWYLNEASFDLYSYHYFW


uniprotID: O75077
geneSymbol: ADAM23
reactome: R-HSA-5682910;
length: 832
go: ENSG00000114948;
name:
Disintegrin and metalloproteinase domain-containing protein 23 (ADAM 23) (Metalloproteinase-like, disintegrin-like, and cysteine-rich protein 3) (MDC-3)

sequence:

opentargets:
extracellular region [GO:0005576]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; integral component of presynaptic membrane [GO:0099056]; plasma membrane [GO:0005886]; integrin binding [GO:0005178]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237]; cell adhesion [GO:0007155]; cellular response to leukemia inhibitory factor [GO:1990830]; central nervous system development [GO:0007417]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=Alpha; IsoId=O75077-1; Sequence=Displayed; Name=Beta; IsoId=O75077-2; Sequence=VSP_012046; Name=Gamma; IsoId=O75077-3; Sequence=VSP_012045; 

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


uniprotID: O75689
geneSymbol: ADAP1
pdb: 3FEH;3FM8;3LJU;3MDB;
length: 374
go: ENSG00000105963;
snps: rs10256887
name:
Arf-GAP with dual PH domain-containing protein 1 (Centaurin-alpha-1) (Cnt-a1) (Putative MAPK-activating protein PM25)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; GTPase activator activity [GO:0005096]; inositol 1,3,4,5 tetrakisphosphate binding [GO:0043533]; metal ion binding [GO:0046872]; phosphatidylinositol bisphosphate binding [GO:1902936]; phosphatidylinositol-3,4,5-trisphosphate binding [GO:0005547]; cell surface receptor signaling pathway [GO:0007166]; regulation of GTPase activity [GO:0043087]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O75689-1; Sequence=Displayed; Name=2; IsoId=O75689-2; Sequence=VSP_054794; Name=3; IsoId=O75689-3; Sequence=VSP_054793; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Recruited to the plasma membrane upon epidermal growth factor-dependent activation of phosphatidylinositol 4,5-diphosphate (PtdInsP2) 3-kinase.


uniprotID: Q8IZF2
geneSymbol: ADGRF5
reactome: R-HSA-5683826;
name: Adhesion G protein-coupled receptor F5 (G-protein coupled receptor 116)
length: 1346
go: ENSG00000069122;
snps: rs586024 rs9395218 rs547499
sequence:

opentargets:
apical part of cell [GO:0045177]; cell surface [GO:0009986]; cytoplasmic vesicle [GO:0031410]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; cell surface receptor signaling pathway [GO:0007166]; energy reserve metabolic process [GO:0006112]; erythrocyte development [GO:0048821]; fat cell differentiation [GO:0045444]; G protein-coupled receptor signaling pathway [GO:0007186]; glomerular filtration [GO:0003094]; glucose homeostasis [GO:0042593]; negative regulation of macrophage activation [GO:0043031]; pharyngeal arch artery morphogenesis [GO:0061626]; positive regulation of phospholipid biosynthetic process [GO:0071073]; surfactant homeostasis [GO:0043129]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IZF2-1; Sequence=Displayed; Name=2; IsoId=Q8IZF2-2; Sequence=VSP_010837, VSP_010838; Name=3; IsoId=Q8IZF2-3; Sequence=VSP_039130; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q9WVT0}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q9Y2D8
geneSymbol: SSX2IP
length: 614
go: ENSG00000117155;
snps: rs1057746
name:
Afadin- and alpha-actinin-binding protein (ADIP) (Afadin DIL domain-interacting protein) (SSX2-interacting protein)

sequence:

opentargets:
cell leading edge [GO:0031252]; cell-cell adherens junction [GO:0005913]; centriolar satellite [GO:0034451]; ciliary basal body [GO:0036064]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; protein domain specific binding [GO:0019904]; cell adhesion [GO:0007155]; centrosome cycle [GO:0007098]; cilium assembly [GO:0060271]; intraciliary transport involved in cilium assembly [GO:0035735]; regulation of cell motility [GO:2000145]; regulation of Rac protein signal transduction [GO:0035020]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y2D8-1; Sequence=Displayed; Name=2; IsoId=Q9Y2D8-2; Sequence=VSP_011724, VSP_011725; Note=No experimental confirmation available.; Name=3; IsoId=Q9Y2D8-3; Sequence=VSP_046368; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell junction, adherens junction {ECO:0000250}. Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000269|PubMed:23816619, ECO:0000269|PubMed:24356449}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:24356449}. Note=Not found at cell-matrix AJs. {ECO:0000250}.


uniprotID: Q5BKT4
geneSymbol: ALG10
reactome: R-HSA-446193;
length: 473
go: ENSG00000139133;
location: SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.
name:
Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase (EC 2.4.1.256) (Alpha-1,2-glucosyltransferase ALG10-A) (Alpha-2-glucosyltransferase ALG10-A) (Asparagine-linked glycosylation protein 10 homolog A)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; dolichyl pyrophosphate Glc2Man9GlcNAc2 alpha-1,2-glucosyltransferase activity [GO:0106073]; dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity [GO:0004583]; dolichol-linked oligosaccharide biosynthetic process [GO:0006488]


uniprotID: Q5VTM2
geneSymbol: AGAP9
length: 703
go: ENSG00000204172;
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 9 (AGAP-9) (Centaurin-gamma-like family member 6)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5VTM2-1; Sequence=Displayed; Name=2; IsoId=Q5VTM2-2; Sequence=VSP_044549, VSP_044550, VSP_044551; Note=No experimental confirmation available.; 


uniprotID: Q5T2L2
geneSymbol: AKR1C8P
length: 129
snps: rs7097295
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
name:
Putative aldo-keto reductase family 1 member C8 (Aldo-keto reductase family 1 member C-like protein 1) (EC 1.1.1.-)

sequence:
MMTDLKQSHSVRLNDGPFMPVLGFGTYAPDHTPKSQAAEATKVAIDVGFRHIDSAYLYQNEEEVGQAIWEKIADGTVKREEIFYTIKLWATFFRAELVHPALERSLKKLGPDYVDLFIIHVPFAMKGSS

opentargets:
cytoplasm [GO:0005737]; alcohol dehydrogenase (NADP+) activity [GO:0008106]; alditol:NADP+ 1-oxidoreductase activity [GO:0004032]; ketosteroid monooxygenase activity [GO:0047086]; oxidoreductase activity [GO:0016491]; steroid dehydrogenase activity [GO:0016229]; steroid metabolic process [GO:0008202]


uniprotID: Q9BYD9
geneSymbol: ACTRT3
name: Actin-related protein T3 (ARP-T3) (Actin-related protein M1)
length: 372
go: ENSG00000184378;
opentargets: cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; male germ cell nucleus [GO:0001673]
snps: rs2068178
sequence:

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}. Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.


uniprotID: Q8IUX7
geneSymbol: AEBP1
name: Adipocyte enhancer-binding protein 1 (AE-binding protein 1) (Aortic carboxypeptidase-like protein)
length: 1158
go: ENSG00000106624;
snps: rs2537188 rs11770649 rs4724285 rs13928 rs13898
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; nucleus [GO:0005634]; calmodulin binding [GO:0005516]; carboxypeptidase activity [GO:0004180]; collagen binding [GO:0005518]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; extracellular matrix structural constituent [GO:0005201]; metallocarboxypeptidase activity [GO:0004181]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription corepressor activity [GO:0003714]; zinc ion binding [GO:0008270]; muscle organ development [GO:0007517]; negative regulation of transcription by RNA polymerase II [GO:0000122]; peptide metabolic process [GO:0006518]; protein processing [GO:0016485]; regulation of collagen fibril organization [GO:1904026]; skeletal system development [GO:0001501]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IUX7-1; Sequence=Displayed; Name=2; IsoId=Q8IUX7-2; Sequence=VSP_033467, VSP_033468, VSP_033469; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Secreted {ECO:0000250|UniProtKB:Q640N1}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000250|UniProtKB:Q640N1}. Nucleus {ECO:0000250|UniProtKB:Q640N1}.


uniprotID: Q8TC27
geneSymbol: ADAM32
name: Disintegrin and metalloproteinase domain-containing protein 32 (ADAM 32)
length: 787
go: ENSG00000197140;
opentargets: integral component of membrane [GO:0016021]; metalloendopeptidase activity [GO:0004222]
snps: rs17856744 rs17852343 rs9643859 rs7845771 rs13277386 rs28705715
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:


uniprotID: Q9BRR6
geneSymbol: ADPGK
reactome: R-HSA-70171;
name: ADP-dependent glucokinase (ADP-GK) (ADPGK) (EC 2.7.1.147) (RbBP-35)
length: 497
go: ENSG00000159322;
snps: rs8024644
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; extracellular region [GO:0005576]; membrane [GO:0016020]; ADP-specific glucokinase activity [GO:0043843]; metal ion binding [GO:0046872]; canonical glycolysis [GO:0061621]; glucose metabolic process [GO:0006006]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q9BRR6-1; Sequence=Displayed; Name=2; IsoId=Q9BRR6-2; Sequence=VSP_013552; Name=3; IsoId=Q9BRR6-3; Sequence=VSP_013549; Name=4; IsoId=Q9BRR6-4; Sequence=VSP_013550, VSP_013551, VSP_013552; Name=5; IsoId=Q9BRR6-5; Sequence=VSP_013548, VSP_013553, VSP_013554; Name=6; IsoId=Q9BRR6-6; Sequence=VSP_035014; Note=No experimental confirmation available.; 


uniprotID: Q9HCK5
geneSymbol: AGO4
length: 861
go: ENSG00000134698;
reactome:
R-HSA-1912408;R-HSA-203927;R-HSA-2559580;R-HSA-2559585;R-HSA-4086398;R-HSA-426486;R-HSA-426496;R-HSA-5628897;R-HSA-5687128;R-HSA-8934593;R-HSA-8936459;R-HSA-8943723;R-HSA-8948700;R-HSA-9018519;

name:
Protein argonaute-4 (Argonaute4) (hAgo4) (Argonaute RISC catalytic component 4) (Eukaryotic translation initiation factor 2C 4) (eIF-2C 4) (eIF2C 4)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; micro-ribonucleoprotein complex [GO:0035068]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; P-body [GO:0000932]; RISC complex [GO:0016442]; RISC-loading complex [GO:0070578]; double-stranded RNA binding [GO:0003725]; miRNA binding [GO:0035198]; single-stranded RNA binding [GO:0003727]; male gonad development [GO:0008584]; male meiotic nuclear division [GO:0007140]; miRNA loading onto RISC involved in gene silencing by miRNA [GO:0035280]; miRNA mediated inhibition of translation [GO:0035278]; miRNA metabolic process [GO:0010586]; mRNA catabolic process [GO:0006402]; negative regulation of apoptotic process [GO:0043066]; negative regulation of gene expression [GO:0010629]; positive regulation of gene expression [GO:0010628]; 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 cell morphogenesis [GO:0022604]; regulation of megakaryocyte differentiation [GO:0045652]; RNA secondary structure unwinding [GO:0010501]; synaptonemal complex assembly [GO:0007130]; Wnt signaling pathway, calcium modulating pathway [GO:0007223]

location:
SUBCELLULAR LOCATION: Cytoplasm, P-body {ECO:0000255|HAMAP-Rule:MF_03033, ECO:0000269|PubMed:16081698, ECO:0000269|PubMed:19167051}.


uniprotID: Q9Y4W6
geneSymbol: AFG3L2
reactome: R-HSA-8949664;
pdb: 2LNA;
name: AFG3-like protein 2 (EC 3.4.24.-) (Paraplegin-like protein)
length: 797
go: ENSG00000141385;
drug: DB00171;
sequence:

opentargets:
m-AAA complex [GO:0005745]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237]; unfolded protein binding [GO:0051082]; zinc ion binding [GO:0008270]; axonogenesis [GO:0007409]; calcium import into the mitochondrion [GO:0036444]; cristae formation [GO:0042407]; mitochondrial calcium ion homeostasis [GO:0051560]; mitochondrial calcium ion transmembrane transport [GO:0006851]; mitochondrial fusion [GO:0008053]; mitochondrial protein processing [GO:0034982]; muscle fiber development [GO:0048747]; myelination [GO:0042552]; nerve development [GO:0021675]; neuromuscular junction development [GO:0007528]; protein autoprocessing [GO:0016540]; protein processing [GO:0016485]; proteolysis [GO:0006508]; regulation of multicellular organism growth [GO:0040014]; righting reflex [GO:0060013]

snps:
rs151344512 rs387906889 rs151344513 rs151344515 rs151344515 rs151344514 rs151344518 rs151344517 rs151344520 rs151344521 rs151344522 rs151344523 

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:10395799}. Mitochondrion inner membrane {ECO:0000250|UniProtKB:Q8JZQ2}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q86UQ4
geneSymbol: ABCA13
reactome: R-HSA-6798695;
name: ATP-binding cassette sub-family A member 13
length: 5058
go: ENSG00000179869;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
azurophil granule membrane [GO:0035577]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; ATP binding [GO:0005524]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; lipid transport [GO:0006869]; neutrophil degranulation [GO:0043312]

snps:
rs1880738 rs2361519 rs17712293 rs17547816 rs17132195 rs6583483 rs17712299 rs17132197 rs17661364 rs17092911 rs1880736 rs17132198 rs17132206 rs17132208 rs2222648 rs3931814 rs17132289 rs4917152 rs4917153 rs17132370 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q86UQ4-1; Sequence=Displayed; Name=2; IsoId=Q86UQ4-2; Sequence=VSP_021069, VSP_021070; 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=Q86UQ4-3; Sequence=VSP_021068; Name=4; IsoId=Q86UQ4-4; Sequence=VSP_054634; Name=5; IsoId=Q86UQ4-5; Sequence=VSP_054633, VSP_054634; Name=6; IsoId=Q86UQ4-6; Sequence=VSP_054633, VSP_054634, VSP_054636; Name=7; IsoId=Q86UQ4-7; Sequence=VSP_054633, VSP_054634, VSP_054635; 


uniprotID: Q9UGJ0
geneSymbol: PRKAG2
name: 5'-AMP-activated protein kinase subunit gamma-2 (AMPK gamma2) (AMPK subunit gamma-2) (H91620p)
length: 569
go: ENSG00000106617;
drug: DB00945;
snps: rs3207363 rs121908987 rs121908988 rs28938173 rs121908989 rs121908990 rs121908991
reactome:
R-HSA-1445148;R-HSA-1632852;R-HSA-163680;R-HSA-200425;R-HSA-2151209;R-HSA-380972;R-HSA-5628897;R-HSA-6804756;

sequence:

opentargets:
cytosol [GO:0005829]; extracellular space [GO:0005615]; nucleoplasm [GO:0005654]; nucleotide-activated protein kinase complex [GO:0031588]; ADP binding [GO:0043531]; AMP binding [GO:0016208]; AMP-activated protein kinase activity [GO:0004679]; ATP binding [GO:0005524]; cAMP-dependent protein kinase inhibitor activity [GO:0004862]; cAMP-dependent protein kinase regulator activity [GO:0008603]; phosphorylase kinase regulator activity [GO:0008607]; protein kinase activator activity [GO:0030295]; protein kinase binding [GO:0019901]; ATP biosynthetic process [GO:0006754]; cell cycle arrest [GO:0007050]; fatty acid biosynthetic process [GO:0006633]; glycogen metabolic process [GO:0005977]; intracellular signal transduction [GO:0035556]; macroautophagy [GO:0016236]; negative regulation of protein kinase activity [GO:0006469]; positive regulation of peptidyl-threonine phosphorylation [GO:0010800]; positive regulation of protein kinase activity [GO:0045860]; regulation of fatty acid biosynthetic process [GO:0042304]; regulation of fatty acid metabolic process [GO:0019217]; regulation of fatty acid oxidation [GO:0046320]; regulation of glucose import [GO:0046324]; regulation of glycolytic process [GO:0006110]; sterol biosynthetic process [GO:0016126]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=A; IsoId=Q9UGJ0-1; Sequence=Displayed; Name=B; IsoId=Q9UGJ0-2; Sequence=VSP_000261; Name=C; IsoId=Q9UGJ0-3; Sequence=VSP_015589; 


uniprotID: Q9UDR5
geneSymbol: AASS
reactome: R-HSA-71064;
pdb: 5L76;5L78;5O1N;5O1O;5O1P;
length: 926
go: ENSG00000008311;
drug: DB00142;DB04207;DB00157;DB02338;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250}.
name:
Alpha-aminoadipic semialdehyde synthase, mitochondrial (LKR/SDH) [Includes: Lysine ketoglutarate reductase (LKR) (LOR) (EC 1.5.1.8); Saccharopine dehydrogenase (SDH) (EC 1.5.1.9)]

sequence:

opentargets:
cytoplasm [GO:0005737]; intracellular membrane-bounded organelle [GO:0043231]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity [GO:0047131]; saccharopine dehydrogenase (NADP+, L-lysine-forming) activity [GO:0047130]; saccharopine dehydrogenase activity [GO:0004753]; L-lysine catabolic process to acetyl-CoA via saccharopine [GO:0033512]; lysine biosynthetic process via aminoadipic acid [GO:0019878]; lysine catabolic process [GO:0006554]; protein tetramerization [GO:0051262]


uniprotID: P30466
geneSymbol: HLA-B
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
pdb: 4JQV;4XXC;
name: HLA class I histocompatibility antigen, B-18 alpha chain (MHC class I antigen B*18)
length: 362
snps: rs1071816 rs1131215 rs697742 rs796093434 rs1050696
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

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


uniprotID: P30939
geneSymbol: HTR1F
reactome: R-HSA-390666;R-HSA-418594;
name: 5-hydroxytryptamine receptor 1F (5-HT-1F) (5-HT1F) (Serotonin receptor 1F)
length: 366
go: ENSG00000179097;
drug: DB00216;DB01049;DB00696;DB01221;DB00247;DB06148;DB00952;DB00953;DB00669;DB13025;DB00315;
sequence:

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

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:8380639, ECO:0000269|PubMed:8384716}; Multi-pass membrane protein {ECO:0000269|PubMed:8380639, ECO:0000269|PubMed:8384716}.


uniprotID: Q15018
geneSymbol: ABRAXAS2
reactome: R-HSA-5689901;
name: BRISC complex subunit Abraxas 2 (Abraxas brother protein 1) (Protein FAM175B)
length: 415
go: ENSG00000165660;
sequence:

opentargets:
BRISC complex [GO:0070552]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; microtubule [GO:0005874]; spindle pole [GO:0000922]; microtubule binding [GO:0008017]; polyubiquitin modification-dependent protein binding [GO:0031593]; attachment of spindle microtubules to kinetochore [GO:0008608]; cell division [GO:0051301]; chromosome segregation [GO:0007059]; mitotic cell cycle [GO:0000278]; mitotic spindle assembly [GO:0090307]; protein deubiquitination [GO:0016579]; protein K63-linked deubiquitination [GO:0070536]; response to ischemia [GO:0002931]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20656690, ECO:0000269|PubMed:21195082, ECO:0000269|PubMed:21282113, ECO:0000269|PubMed:22974638, ECO:0000269|PubMed:24075985, ECO:0000269|PubMed:25283148}. Nucleus {ECO:0000269|PubMed:21282113, ECO:0000269|PubMed:22974638, ECO:0000269|PubMed:24075985, ECO:0000269|PubMed:25283148}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:26195665}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:26195665}. Note=A minor proportion is detected in the nucleus (PubMed:21282113, PubMed:22974638). Translocates into the nucleus in response to DNA damage (PubMed:25283148). Directly binds to microtubules and is detected at the minus end of K-fibers (PubMed:26195665). Co-localizes with NUMA1 at mitotic spindle poles (PubMed:26195665). {ECO:0000269|PubMed:21282113, ECO:0000269|PubMed:22974638, ECO:0000269|PubMed:25283148, ECO:0000269|PubMed:26195665}.


uniprotID: P30485
geneSymbol: HLA-B
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
name: HLA class I histocompatibility antigen, B-47 alpha chain (Bw-47) (MHC class I antigen B*47)
length: 362
snps: rs1131500 rs1051488 rs2308655 rs2308655
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

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


uniprotID: Q9H845
geneSymbol: ACAD9
reactome: R-HSA-6799198;
name: Acyl-CoA dehydrogenase family member 9, mitochondrial (ACAD-9) (EC 1.3.99.-)
length: 621
go: ENSG00000177646;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:20816094}.
sequence:

opentargets:
dendrite [GO:0030425]; mitochondrial inner membrane [GO:0005743]; mitochondrial membrane [GO:0031966]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; fatty-acyl-CoA binding [GO:0000062]; flavin adenine dinucleotide binding [GO:0050660]; long-chain-acyl-CoA dehydrogenase activity [GO:0004466]; medium-chain-acyl-CoA dehydrogenase activity [GO:0070991]; very-long-chain-acyl-CoA dehydrogenase activity [GO:0017099]; long-chain fatty acid metabolic process [GO:0001676]; medium-chain fatty acid metabolic process [GO:0051791]; mitochondrial respiratory chain complex I assembly [GO:0032981]

snps:
rs387907041 rs377547811 rs387907042 rs143383023 rs115532916 rs149753643 rs777282696 rs368949613 rs139145143 rs4494951 rs781149699 rs377022708 


uniprotID: P12814
geneSymbol: ACTN1
reactome: R-HSA-114608;R-HSA-3000170;R-HSA-373753;R-HSA-446388;
pdb: 2EYI;2EYN;2N8Y;2N8Z;
length: 892
go: ENSG00000072110;
name:
Alpha-actinin-1 (Alpha-actinin cytoskeletal isoform) (F-actin cross-linking protein) (Non-muscle alpha-actinin-1)

sequence:

opentargets:
brush border [GO:0005903]; cell projection [GO:0042995]; cell-cell junction [GO:0005911]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; fascia adherens [GO:0005916]; focal adhesion [GO:0005925]; glutamatergic synapse [GO:0098978]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; platelet alpha granule lumen [GO:0031093]; pseudopodium [GO:0031143]; ruffle [GO:0001726]; stress fiber [GO:0001725]; Z disc [GO:0030018]; actin filament binding [GO:0051015]; calcium ion binding [GO:0005509]; double-stranded RNA binding [GO:0003725]; integrin binding [GO:0005178]; ion channel binding [GO:0044325]; nuclear receptor transcription coactivator activity [GO:0030374]; protein homodimerization activity [GO:0042803]; structural constituent of postsynapse [GO:0099186]; vinculin binding [GO:0017166]; actin crosslink formation [GO:0051764]; actin filament bundle assembly [GO:0051017]; actin filament network formation [GO:0051639]; actin filament organization [GO:0007015]; focal adhesion assembly [GO:0048041]; negative regulation of cellular component movement [GO:0051271]; platelet degranulation [GO:0002576]; platelet formation [GO:0030220]; platelet morphogenesis [GO:0036344]; regulation of apoptotic process [GO:0042981]

snps:
rs387907346 rs387907348 rs387907345 rs904887313 rs387907350 rs7157661 rs387907349 rs387907347 rs11557769 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P12814-1; Sequence=Displayed; Name=2; IsoId=P12814-2; Sequence=VSP_041264; Name=3; IsoId=P12814-3; Sequence=VSP_043525; Name=4; IsoId=P12814-4; Sequence=VSP_041264, VSP_047763; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:24069336, ECO:0000269|PubMed:7750553}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed:7750553}. Cell membrane {ECO:0000250|UniProtKB:Q9Z1P2}. Cell junction {ECO:0000250|UniProtKB:Q9Z1P2}. Cell projection, ruffle {ECO:0000250|UniProtKB:Q7TPR4}. Note=Colocalizes with MYOZ2 and PPP3CA at the Z-line of heart and skeletal muscle. Colocalizes with PSD in membrane ruffles and central reticular structures. {ECO:0000250|UniProtKB:Q7TPR4}.


uniprotID: P07510
geneSymbol: CHRNG
reactome: R-HSA-629587;
name: Acetylcholine receptor subunit gamma
length: 517
go: ENSG00000196811;
drug: DB00674;
snps: rs267606726 rs2289080 rs121912670
sequence:

opentargets:
acetylcholine-gated channel complex [GO:0005892]; cell junction [GO:0030054]; integral component of plasma membrane [GO:0005887]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; synapse [GO:0045202]; acetylcholine receptor activity [GO:0015464]; acetylcholine-gated cation-selective channel activity [GO:0022848]; channel activity [GO:0015267]; ligand-gated ion channel activity [GO:0015276]; chemical synaptic transmission [GO:0007268]; ion transmembrane transport [GO:0034220]; muscle contraction [GO:0006936]; nervous system process [GO:0050877]; neuromuscular synaptic transmission [GO:0007274]; regulation of membrane potential [GO:0042391]; response to nicotine [GO:0035094]; signal transduction [GO:0007165]; synaptic transmission, cholinergic [GO:0007271]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P07510-1; Sequence=Displayed; Name=2; IsoId=P07510-2; Sequence=VSP_055775; Note=No experimental confirmation available.; 


uniprotID: Q9NY61
geneSymbol: AATF
reactome: R-HSA-193648;
pdb: 5W6A;
name: Protein AATF (Apoptosis-antagonizing transcription factor) (Rb-binding protein Che-1)
length: 560
go: ENSG00000275700;
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849}.
sequence:

opentargets:
cytoplasm [GO:0005737]; Golgi apparatus [GO:0005794]; nucleolus [GO:0005730]; nucleus [GO:0005634]; leucine zipper domain binding [GO:0043522]; protein kinase binding [GO:0019901]; RNA binding [GO:0003723]; tau protein binding [GO:0048156]; cell adhesion [GO:0007155]; cellular response to DNA damage stimulus [GO:0006974]; embryonic cleavage [GO:0040016]; negative regulation of amyloid precursor protein biosynthetic process [GO:0042985]; negative regulation of apoptotic process [GO:0043066]; negative regulation of reactive oxygen species metabolic process [GO:2000378]; negative regulation of superoxide anion generation [GO:0032929]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of mitotic cell cycle [GO:0007346]; ribosome biogenesis [GO:0042254]


uniprotID: P33897
geneSymbol: ABCD1
reactome: R-HSA-1369062;R-HSA-2046105;R-HSA-2046106;R-HSA-390247;R-HSA-5684045;
name: ATP-binding cassette sub-family D member 1 (Adrenoleukodystrophy protein) (ALDP)
length: 745
go: ENSG00000101986;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; integral component of peroxisomal membrane [GO:0005779]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; mitochondrial membrane [GO:0031966]; perinuclear region of cytoplasm [GO:0048471]; peroxisomal membrane [GO:0005778]; peroxisome [GO:0005777]; ADP binding [GO:0043531]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; enzyme binding [GO:0019899]; fatty-acyl-CoA transmembrane transporter activity [GO:0015607]; identical protein binding [GO:0042802]; long-chain fatty acid transporter activity [GO:0005324]; protein homodimerization activity [GO:0042803]; transporter activity [GO:0005215]; alpha-linolenic acid metabolic process [GO:0036109]; fatty acid beta-oxidation [GO:0006635]; fatty acid beta-oxidation using acyl-CoA oxidase [GO:0033540]; fatty acid elongation [GO:0030497]; fatty acid homeostasis [GO:0055089]; linoleic acid metabolic process [GO:0043651]; long-chain fatty acid catabolic process [GO:0042758]; myelin maintenance [GO:0043217]; negative regulation of cytokine production involved in inflammatory response [GO:1900016]; negative regulation of reactive oxygen species biosynthetic process [GO:1903427]; neuron projection maintenance [GO:1990535]; peroxisomal long-chain fatty acid import [GO:0015910]; peroxisomal membrane transport [GO:0015919]; peroxisome organization [GO:0007031]; positive regulation of fatty acid beta-oxidation [GO:0032000]; positive regulation of unsaturated fatty acid biosynthetic process [GO:2001280]; regulation of cellular response to oxidative stress [GO:1900407]; regulation of fatty acid beta-oxidation [GO:0031998]; regulation of mitochondrial depolarization [GO:0051900]; regulation of oxidative phosphorylation [GO:0002082]; sterol homeostasis [GO:0055092]; transmembrane transport [GO:0055085]; very long-chain fatty acid catabolic process [GO:0042760]; very long-chain fatty-acyl-CoA catabolic process [GO:0036113]

snps:
rs183021839 rs398123110 rs193922097 rs128624216 rs1057517954 rs128624217 rs1131691916 rs1131691743 rs128624218 rs782760033 rs193922098 rs128624213 rs1131691954 rs797044610 rs128624215 rs886044777 rs128624219 rs128624220 rs128624214 rs128624223 rs398123102 rs128624224 rs201568579 rs398123105 rs398123106 rs128624225 rs201774661 rs78993751 rs150346282 rs4010613 rs11146842 rs1064793877 rs201427153 rs782311214 

location:
SUBCELLULAR LOCATION: Peroxisome membrane {ECO:0000269|PubMed:10777694, ECO:0000269|PubMed:16946495, ECO:0000269|PubMed:17609205}; Multi-pass membrane protein {ECO:0000255}. Mitochondrion membrane {ECO:0000269|PubMed:16946495}; Multi-pass membrane protein. Lysosome membrane {ECO:0000269|PubMed:16946495}; Multi-pass membrane protein. Endoplasmic reticulum membrane {ECO:0000269|PubMed:16946495}; Multi-pass membrane protein.


uniprotID: P30685
geneSymbol: HLA-B
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
name: HLA class I histocompatibility antigen, B-35 alpha chain (MHC class I antigen B*35)
length: 362
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
pdb:
1A1N;1A9B;1A9E;1CG9;1XH3;1ZHK;1ZHL;1ZSD;2AK4;2AXF;2AXG;2CIK;2FYY;2FZ3;2H6P;2NW3;2NX5;3BW9;3BWA;3KWW;3KXF;3LKN;3LKO;3LKP;3LKQ;3LKR;3LKS;3MV7;3MV8;3MV9;3VFS;3VFT;3VFU;3VFV;3VFW;4LNR;4PR5;4PRN;4QRR;5XOS;5XOT;6BJ2;6BJ3;6BJ8;

sequence:

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


uniprotID: Q04826
geneSymbol: HLA-B
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
pdb: 5IEH;5IEK;
name: HLA class I histocompatibility antigen, B-40 alpha chain (Bw-60) (MHC class I antigen B*40)
length: 362
snps: rs1050388 rs1050379 rs1050654 rs1131500 rs1051488 rs2308655 rs2308655
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:


uniprotID: Q95365
geneSymbol: HLA-B
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-2172127;R-HSA-877300;R-HSA-909733;R-HSA-983170;
name: HLA class I histocompatibility antigen, B-38 alpha chain (Bw-4) (MHC class I antigen B*38)
length: 362
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

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

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


uniprotID: P25106
geneSymbol: ACKR3
reactome: R-HSA-380108;R-HSA-418594;
length: 362
go: ENSG00000144476;
snps: rs10183641
name:
Atypical chemokine receptor 3 (C-X-C chemokine receptor type 7) (CXC-R7) (CXCR-7) (Chemokine orphan receptor 1) (G-protein coupled receptor 159) (G-protein coupled receptor RDC1 homolog) (RDC-1)

sequence:

opentargets:
cell surface [GO:0009986]; clathrin-coated pit [GO:0005905]; early endosome [GO:0005769]; endosome [GO:0005768]; external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; recycling endosome [GO:0055037]; C-C chemokine binding [GO:0019957]; C-C chemokine receptor activity [GO:0016493]; C-X-C chemokine binding [GO:0019958]; C-X-C chemokine receptor activity [GO:0016494]; chemokine binding [GO:0019956]; coreceptor activity [GO:0015026]; scavenger receptor activity [GO:0005044]; angiogenesis [GO:0001525]; calcium-mediated signaling [GO:0019722]; cell adhesion [GO:0007155]; cell chemotaxis [GO:0060326]; chemokine-mediated signaling pathway [GO:0070098]; chemotaxis [GO:0006935]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage [GO:1902230]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of mesenchymal stem cell migration [GO:1905322]; receptor internalization [GO:0031623]; vasculogenesis [GO:0001570]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cytoplasm, perinuclear region. Early endosome. Recycling endosome {ECO:0000250}. Note=Predominantly localizes to endocytic vesicles, and upon stimulation by the ligand is internalized via clathrin-coated pits in a beta-arrestin-dependent manner. Once internalized, the ligand dissociates from the receptor, and is targeted to degradation while the receptor is recycled back to the cell membrane.


uniprotID: Q8WXA8
geneSymbol: HTR3C
reactome: R-HSA-112314;
name: 5-hydroxytryptamine receptor 3C (5-HT3-C) (5-HT3C) (Serotonin receptor 3C)
length: 447
go: ENSG00000178084;
drug: DB01049;DB00898;DB13025;
snps: rs142791028 rs6766410 rs6807362
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; synapse [GO:0045202]; serotonin-gated cation-selective channel activity [GO:0022850]; transmembrane signaling receptor activity [GO:0004888]; chemical synaptic transmission [GO:0007268]; ion transmembrane transport [GO:0034220]; nervous system process [GO:0050877]; regulation of membrane potential [GO:0042391]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17392525}; Multi-pass membrane protein {ECO:0000269|PubMed:17392525}. Note=Presumably retained within the endoplasmic reticulum unless complexed with HTR3A.


uniprotID: Q29974
geneSymbol: HLA-DRB1
reactome: R-HSA-202424;R-HSA-202427;R-HSA-202430;R-HSA-202433;R-HSA-2132295;R-HSA-389948;R-HSA-877300;
length: 266
snps: rs9269744
name:
HLA class II histocompatibility antigen, DRB1-16 beta chain (MHC class II antigen DRB1*16) (DR-16) (DR16)

sequence:

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

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18305173}; Single-pass type I membrane protein {ECO:0000269|PubMed:18305173}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:18305173}; Single-pass type I membrane protein {ECO:0000269|PubMed:18305173}. Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:18305173}; Single-pass type I membrane protein {ECO:0000269|PubMed:18305173}. Endosome membrane {ECO:0000269|PubMed:18305173}; Single-pass type I membrane protein {ECO:0000269|PubMed:18305173}. Lysosome membrane {ECO:0000269|PubMed:18305173}; Single-pass type I membrane protein {ECO:0000269|PubMed:18305173}. Late endosome membrane {ECO:0000269|PubMed:18305173}; Single-pass type I membrane protein {ECO:0000269|PubMed:18305173}. Note=The MHC class II complex transits through a number of intracellular compartments in the endocytic pathway until it reaches the cell membrane for antigen presentation.


uniprotID: Q9BUJ0
geneSymbol: ABHD14A
length: 271
go: ENSG00000248487;
snps: rs17849626 rs404527
name:
Protein ABHD14A (EC 3.-.-.-) (Alpha/beta hydrolase domain-containing protein 14A) (Abhydrolase domain-containing protein 14A)

sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; hydrolase activity [GO:0016787]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.


uniprotID: Q5JWF8
geneSymbol: ACTL10
name: Actin-like protein 10
length: 245
go: ENSG00000182584;
sequence:


uniprotID: P01911
geneSymbol: HLA-DRB1
reactome: R-HSA-202424;R-HSA-202427;R-HSA-202430;R-HSA-202433;R-HSA-2132295;R-HSA-389948;R-HSA-877300;
pdb: 1BX2;1YMM;2WBJ;
length: 266
go: ENSG00000196126;
snps: rs707953 rs1059569 rs11554462 rs17886918 rs9269941 rs17885482 rs1059633 rs9269744
name:
HLA class II histocompatibility antigen, DRB1-15 beta chain (DW2.2/DR2.2) (MHC class II antigen DRB1*15)

sequence:

opentargets:
cell surface [GO:0009986]; clathrin-coated endocytic vesicle membrane [GO:0030669]; endocytic vesicle membrane [GO:0030666]; ER to Golgi transport vesicle membrane [GO:0012507]; extracellular exosome [GO:0070062]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; late endosome membrane [GO:0031902]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; MHC class II protein complex [GO:0042613]; plasma membrane [GO:0005886]; trans-Golgi network membrane [GO:0032588]; transport vesicle membrane [GO:0030658]; MHC class II protein complex binding [GO:0023026]; peptide antigen binding [GO:0042605]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; interferon-gamma-mediated signaling pathway [GO:0060333]; polysaccharide assembly with MHC class II protein complex [GO:0002506]; T cell receptor signaling pathway [GO:0050852]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18305173}; Single-pass type I membrane protein {ECO:0000269|PubMed:18305173}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:18305173}; Single-pass type I membrane protein {ECO:0000269|PubMed:18305173}. Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:18305173}; Single-pass type I membrane protein {ECO:0000269|PubMed:18305173}. Endosome membrane {ECO:0000269|PubMed:18305173}; Single-pass type I membrane protein {ECO:0000269|PubMed:18305173}. Lysosome membrane {ECO:0000269|PubMed:18305173}; Single-pass type I membrane protein {ECO:0000269|PubMed:18305173}. Late endosome membrane {ECO:0000269|PubMed:18305173}; Single-pass type I membrane protein {ECO:0000269|PubMed:18305173}. Note=The MHC class II complex transits through a number of intracellular compartments in the endocytic pathway until it reaches the cell membrane for antigen presentation.


uniprotID: Q96P26
geneSymbol: NT5C1B
reactome: R-HSA-74259;
length: 610
go: ENSG00000185013;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Cytosolic 5'-nucleotidase 1B (cN1B) (EC 3.1.3.5) (Autoimmune infertility-related protein) (Cytosolic 5'-nucleotidase IB) (cN-IB)

sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; 5'-nucleotidase activity [GO:0008253]; magnesium ion binding [GO:0000287]; nucleotide binding [GO:0000166]; purine nucleotide catabolic process [GO:0006195]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=CN-Ib alpha; IsoId=Q96P26-1; Sequence=Displayed; Name=2; IsoId=Q96P26-2; Sequence=VSP_010201; Note=No experimental confirmation available.; Name=3; IsoId=Q96P26-3; Sequence=VSP_010202; Note=No experimental confirmation available.; Name=4; IsoId=Q96P26-4; Sequence=VSP_010203; Note=No experimental confirmation available.; 


uniprotID: O95477
geneSymbol: ABCA1
reactome: R-HSA-1989781;R-HSA-5682113;R-HSA-8963896;
pdb: 5XJY;
length: 2261
go: ENSG00000165029;
drug: DB00171;DB01016;DB01599;
name:
ATP-binding cassette sub-family A member 1 (ATP-binding cassette transporter 1) (ABC-1) (ATP-binding cassette 1) (Cholesterol efflux regulatory protein)

sequence:

opentargets:
endocytic vesicle [GO:0030139]; endoplasmic reticulum membrane [GO:0005789]; external side of plasma membrane [GO:0009897]; Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; intracellular membrane-bounded organelle [GO:0043231]; membrane raft [GO:0045121]; perinuclear region of cytoplasm [GO:0048471]; phagocytic vesicle [GO:0045335]; plasma membrane [GO:0005886]; anion transmembrane transporter activity [GO:0008509]; apolipoprotein A-I binding [GO:0034186]; apolipoprotein A-I receptor activity [GO:0034188]; apolipoprotein binding [GO:0034185]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; ATPase binding [GO:0051117]; cholesterol binding [GO:0015485]; cholesterol transporter activity [GO:0017127]; high-density lipoprotein particle binding [GO:0008035]; phosphatidylcholine-translocating ATPase activity [GO:0090554]; phosphatidylserine-translocating ATPase activity [GO:0090556]; phospholipid binding [GO:0005543]; phospholipid transporter activity [GO:0005548]; signaling receptor binding [GO:0005102]; small GTPase binding [GO:0031267]; syntaxin binding [GO:0019905]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; cellular response to cholesterol [GO:0071397]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to low-density lipoprotein particle stimulus [GO:0071404]; cellular response to retinoic acid [GO:0071300]; cholesterol efflux [GO:0033344]; cholesterol homeostasis [GO:0042632]; cholesterol metabolic process [GO:0008203]; endosomal transport [GO:0016197]; G protein-coupled receptor signaling pathway [GO:0007186]; high-density lipoprotein particle assembly [GO:0034380]; interleukin-1 beta secretion [GO:0050702]; intracellular cholesterol transport [GO:0032367]; lipid transport [GO:0006869]; lysosome organization [GO:0007040]; negative regulation of cholesterol storage [GO:0010887]; negative regulation of macrophage derived foam cell differentiation [GO:0010745]; phagocytosis, engulfment [GO:0006911]; phospholipid efflux [GO:0033700]; phospholipid homeostasis [GO:0055091]; phospholipid translocation [GO:0045332]; platelet dense granule organization [GO:0060155]; positive regulation of cholesterol efflux [GO:0010875]; protein lipidation [GO:0006497]; regulation of Cdc42 protein signal transduction [GO:0032489]; regulation of high-density lipoprotein particle assembly [GO:0090107]; regulation of lipid metabolic process [GO:0019216]; response to drug [GO:0042493]; response to laminar fluid shear stress [GO:0034616]; response to nutrient [GO:0007584]; reverse cholesterol transport [GO:0043691]

snps:
rs145183203 rs2230806 rs9282541 rs142625938 rs758100110 rs775035559 rs9282543 rs138487227 rs147675550 rs2853574 rs137854496 rs137854496 rs2853578 rs374190304 rs2066718 rs35819696 rs138880920 rs145582736 rs2066715 rs2066714 rs28937314 rs28937313 rs137854495 rs141021096 rs13306072 rs745593394 rs28933692 rs33918808 rs76881554 rs562403512 rs137854500 rs147743782 rs145689805 rs189206655 rs137854494 rs137854497 rs1997618 rs2230808 rs1883024 rs150125857 rs137854498 rs760507032 rs146292819 rs1055285452 rs760768125 rs142688906 rs137854499 rs137854501 rs369098049 rs2853577 rs564764153 rs34879708 rs144588452 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:19258317, ECO:0000269|PubMed:19556522}; Multi-pass membrane protein {ECO:0000269|PubMed:19258317, ECO:0000269|PubMed:19556522}.


uniprotID: P08173
geneSymbol: CHRM4
reactome: R-HSA-390648;R-HSA-418594;
pdb: 5DSG;6D9H;
name: Muscarinic acetylcholine receptor M4
length: 479
go: ENSG00000180720;
sequence:

opentargets:
cell junction [GO:0030054]; dendrite [GO:0030425]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; G protein-coupled acetylcholine receptor activity [GO:0016907]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled serotonin receptor activity [GO:0004993]; neurotransmitter receptor activity [GO:0030594]; adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway [GO:0007197]; cell proliferation [GO:0008283]; cell surface receptor signaling pathway [GO:0007166]; chemical synaptic transmission [GO:0007268]; G protein-coupled acetylcholine receptor signaling pathway [GO:0007213]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; regulation of locomotion [GO:0040012]; signal transduction [GO:0007165]

drug:
DB08897;DB05752;DB00321;DB00543;DB01238;DB00572;DB00767;DB00835;DB01239;DB00568;DB00363;DB00785;DB00496;DB01151;DB01142;DB06702;DB00725;DB00424;DB00458;DB01625;DB01221;DB00408;DB00934;DB01403;DB00340;DB00622;DB00540;DB00334;DB00715;DB00454;DB00387;DB00420;DB01069;DB00777;DB01224;DB00747;DB01591;DB00342;DB01036;DB00376;DB00726;DB00809;DB09076;DB00246;

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


uniprotID: Q9Y614
geneSymbol: ACTL7B
name: Actin-like protein 7B (Actin-like-7-beta)
length: 415
go: ENSG00000148156;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}.
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; structural constituent of cytoskeleton [GO:0005200]


uniprotID: Q86TW2
geneSymbol: ADCK1
name: Uncharacterized aarF domain-containing protein kinase 1 (EC 2.7.11.-)
length: 530
go: ENSG00000063761;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular region [GO:0005576]; ATP binding [GO:0005524]; protein serine/threonine kinase activity [GO:0004674]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86TW2-1; Sequence=Displayed; Name=2; IsoId=Q86TW2-2; Sequence=VSP_020885; Note=No experimental confirmation available.; Name=3; IsoId=Q86TW2-3; Sequence=VSP_046794; Note=No experimental confirmation available.; 


uniprotID: O95081
geneSymbol: AGFG2
length: 481
go: ENSG00000106351;
opentargets: membrane [GO:0016020]; GTPase activator activity [GO:0005096]; metal ion binding [GO:0046872]
snps: rs34731997
name:
Arf-GAP domain and FG repeat-containing protein 2 (HIV-1 Rev-binding protein-like protein) (Rev/Rex activation domain-binding protein related) (RAB-R)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95081-1; Sequence=Displayed; Name=2; IsoId=O95081-2; Sequence=VSP_010667, VSP_010668; 


uniprotID: P25100
geneSymbol: ADRA1D
reactome: R-HSA-390696;R-HSA-416476;R-HSA-416482;
length: 572
go: ENSG00000171873;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Alpha-1D adrenergic receptor (Alpha-1A adrenergic receptor) (Alpha-1D adrenoreceptor) (Alpha-1D adrenoceptor) (Alpha-adrenergic receptor 1a)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; adrenergic receptor activity [GO:0004935]; alpha1-adrenergic receptor activity [GO:0004937]; adenylate cyclase-activating adrenergic receptor signaling pathway [GO:0071880]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; cell proliferation [GO:0008283]; cell-cell signaling [GO:0007267]; DNA metabolic process [GO:0006259]; G protein-coupled receptor signaling pathway [GO:0007186]; multicellular organism development [GO:0007275]; positive regulation of cell proliferation [GO:0008284]

drug:
DB00346;DB00321;DB00543;DB00182;DB01200;DB00248;DB01136;DB00477;DB09202;DB00575;DB00298;DB01151;DB00590;DB01142;DB04855;DB06262;DB05492;DB00668;DB01049;DB00696;DB00800;DB00458;DB00598;DB00934;DB01365;DB01403;DB00723;DB06148;DB00211;DB00370;DB00622;DB00368;DB00540;DB00935;DB01186;DB00925;DB00388;DB00457;DB00420;DB00777;DB01224;DB05469;DB06144;DB06207;DB00706;DB01162;DB13025;DB06694;


uniprotID: Q8WTP8
geneSymbol: AEN
name: Apoptosis-enhancing nuclease (EC 3.1.-.-) (Interferon-stimulated 20 kDa exonuclease-like 1)
length: 325
go: ENSG00000181026;
snps: rs3743477 rs8026929 rs8027765
sequence:

opentargets:
nuclear membrane [GO:0031965]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; exonuclease activity [GO:0004527]; nucleic acid binding [GO:0003676]; intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:0042771]; response to ionizing radiation [GO:0010212]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WTP8-1; Sequence=Displayed; Name=2; IsoId=Q8WTP8-2; Sequence=VSP_032132; 

location:
SUBCELLULAR LOCATION: Nucleus. Nucleus, nucleolus. Note=Localized predomintly in the nucleolus. Translocates from the nucleolus to the nucleoplasm upon apoptosis induction.


uniprotID: Q9H9L7
geneSymbol: AKIRIN1
name: Akirin-1
length: 192
go: ENSG00000174574;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18066067}.
sequence:
MACGATLKRPMEFEAALLSPGSPKRRRCAPLPGPTPGLRPPDAEPPPPFQTQTPPQSLQQPAPPGSERRLPTPEQIFQNIKQEYSRYQRWRHLEVVLNQSEACASESQPHSSALTAPSSPGSSWMKKDQPTFTLRQVGIICERLLKDYEDKIREEYEQILNTKLAEQYESFVKFTHDQIMRRYGTRPTSYVS

opentargets:
nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; myoblast migration involved in skeletal muscle regeneration [GO:0014839]; negative regulation of satellite cell differentiation [GO:1902725]; negative regulation of skeletal muscle satellite cell proliferation [GO:1902723]; positive regulation of lamellipodium assembly [GO:0010592]; positive regulation of macrophage chemotaxis [GO:0010759]; positive regulation of myoblast differentiation [GO:0045663]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H9L7-1; Sequence=Displayed; Name=2; IsoId=Q9H9L7-2; Sequence=VSP_042769; Note=No experimental confirmation available.; 


uniprotID: Q8IVF2
geneSymbol: AHNAK2
pdb: 4CN0;
name: Protein AHNAK2
length: 5795
go: ENSG00000185567;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
costamere [GO:0043034]; cytoplasm [GO:0005737]; cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; sarcolemma [GO:0042383]; T-tubule [GO:0030315]; Z disc [GO:0030018]; regulation of RNA splicing [GO:0043484]

snps:
rs2278607 rs748458962 rs2819440 rs2819435 rs11846918 rs2582514 rs12890949 rs11845746 rs11160826 rs2819426 rs2819429 rs4264326 rs2582514 rs11160826 rs2819426 rs10438247 rs4264326 rs28380382 rs11160825 rs10438246 rs2819423 rs10141053 rs2582511 rs2013462 rs2582505 rs534942818 rs2819423 rs2819422 rs2819421 rs2582513 rs9672139 rs4465542 rs9672139 rs2819420 rs61421370 rs2819419 rs3742935 rs2819420 rs748358 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IVF2-1; Sequence=Displayed; Name=2; IsoId=Q8IVF2-2; Sequence=VSP_031550; Note=No experimental confirmation available.; Name=3; IsoId=Q8IVF2-3; Sequence=VSP_031551; 


uniprotID: P35368
geneSymbol: ADRA1B
reactome: R-HSA-390696;R-HSA-416476;R-HSA-416482;
name: Alpha-1B adrenergic receptor (Alpha-1B adrenoreceptor) (Alpha-1B adrenoceptor)
length: 520
go: ENSG00000170214;
snps: rs8192448
sequence:

opentargets:
caveola [GO:0005901]; cytoplasm [GO:0005737]; integral component of plasma membrane [GO:0005887]; nuclear membrane [GO:0031965]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; adrenergic receptor activity [GO:0004935]; alpha1-adrenergic receptor activity [GO:0004937]; protein heterodimerization activity [GO:0046982]; adenylate cyclase-activating adrenergic receptor signaling pathway [GO:0071880]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; cell proliferation [GO:0008283]; cell-cell signaling [GO:0007267]; G protein-coupled receptor signaling pathway [GO:0007186]; glucose homeostasis [GO:0042593]; intracellular signal transduction [GO:0035556]; multicellular organism development [GO:0007275]; norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure [GO:0001994]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of smooth muscle contraction [GO:0045987]; positive regulation of vasoconstriction [GO:0045907]; regulation of cardiac muscle contraction [GO:0055117]

drug:
DB01614;DB00346;DB00321;DB00543;DB00182;DB01238;DB09128;DB01200;DB00248;DB01136;DB00477;DB09202;DB00575;DB00363;DB00298;DB01151;DB01576;DB00590;DB01142;DB04855;DB06262;DB05492;DB00668;DB01049;DB00696;DB00800;DB00458;DB00598;DB01255;DB00408;DB00934;DB01365;DB01403;DB00723;DB06148;DB00211;DB00370;DB00745;DB01149;DB00622;DB00368;DB00540;DB00334;DB00935;DB01267;DB01186;DB01579;DB00925;DB00388;DB00457;DB00420;DB01608;DB00777;DB01224;DB05469;DB00734;DB06144;DB06207;DB00706;DB01162;DB01622;DB00679;DB13025;DB00726;DB06694;DB00246;

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. signaling in cardiac myocytes. Colocalizes with GNAQ, PLCB1 as well as LAP2 at the nuclear membrane of cardiac myocytes.


uniprotID: Q96JD6
geneSymbol: AKR1E2
length: 320
go: ENSG00000165568;
snps: rs35429729 rs17133693
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
name:
1,5-anhydro-D-fructose reductase (AF reductase) (EC 1.1.1.263) (Aldo-keto reductase family 1 member C-like protein 2) (Aldo-keto reductase family 1 member E2) (LoopADR) (Testis aldo-keto reductase) (htAKR) (Testis-specific protein) (hTSP)

sequence:

opentargets:
cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; nucleoplasm [GO:0005654]; 1,5-anhydro-D-fructose reductase activity [GO:0050571]; alcohol dehydrogenase (NADP+) activity [GO:0008106]; alditol:NADP+ 1-oxidoreductase activity [GO:0004032]; oxidoreductase activity [GO:0016491]; oxidation-reduction process [GO:0055114]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q96JD6-1; Sequence=Displayed; Name=2; Synonyms=HTSP2 {ECO:0000303|PubMed:12604216}, htAKR2 {ECO:0000303|PubMed:15118078}; IsoId=Q96JD6-2; Sequence=VSP_025615; Name=3; Synonyms=HTSP1 {ECO:0000303|PubMed:12604216}, htAKR1 {ECO:0000303|PubMed:15118078}; IsoId=Q96JD6-3; Sequence=VSP_025615, VSP_025616, VSP_025617; Name=4; Synonyms=HTSP4 {ECO:0000303|PubMed:12604216}, htAKR4 {ECO:0000303|PubMed:15118078}; IsoId=Q96JD6-4; Sequence=VSP_025616, VSP_025617; Name=5; Synonyms=HTSP3 {ECO:0000303|PubMed:12604216}, htAKR3 {ECO:0000303|PubMed:15118078}; IsoId=Q96JD6-5; Sequence=VSP_025614; 


uniprotID: Q9UKJ8
geneSymbol: ADAM21
reactome: R-HSA-1300644;
name: Disintegrin and metalloproteinase domain-containing protein 21 (ADAM 21) (EC 3.4.24.-)
length: 722
go: ENSG00000139985;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
axon [GO:0030424]; integral component of membrane [GO:0016021]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237]; binding of sperm to zona pellucida [GO:0007339]; single fertilization [GO:0007338]


uniprotID: P45381
geneSymbol: ASPA
reactome: R-HSA-70614;
pdb: 2I3C;2O4H;2O53;2Q51;4MRI;4MXU;4NFR;4TNU;
name: Aspartoacylase (EC 3.5.1.15) (Aminoacylase-2) (ACY-2)
length: 313
go: ENSG00000108381;
drug: DB00128;
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus {ECO:0000250}.
sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; aminoacylase activity [GO:0004046]; aspartoacylase activity [GO:0019807]; hydrolase activity, acting on ester bonds [GO:0016788]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; aspartate catabolic process [GO:0006533]; cellular amino acid biosynthetic process [GO:0008652]; central nervous system myelination [GO:0022010]; positive regulation of oligodendrocyte differentiation [GO:0048714]

snps:
rs769653717 rs104894551 rs766328537 rs776777887 rs1446467099 rs1057521115 rs773049803 rs777936704 rs104894548 rs937670540 rs770706390 rs144321760 rs1014551540 rs786204572 rs104894550 rs1057516995 rs104894552 rs761064915 rs750505963 rs28940279 rs774323189 rs28940574 rs376854191 


uniprotID: O95831
geneSymbol: AIFM1
pdb: 1M6I;4BUR;4BV6;4FDC;4LII;5FMH;5FS6;5FS7;5FS8;5FS9;5KVH;5KVI;
name: Apoptosis-inducing factor 1, mitochondrial (EC 1.1.1.-) (Programmed cell death protein 8)
length: 613
go: ENSG00000156709;
drug: DB03147;DB05282;
sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial inner membrane [GO:0005743]; mitochondrial intermembrane space [GO:0005758]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; DNA binding [GO:0003677]; FAD binding [GO:0071949]; NAD(P)H oxidase activity [GO:0016174]; oxidoreductase activity, acting on NAD(P)H [GO:0016651]; protein dimerization activity [GO:0046983]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; apoptotic process [GO:0006915]; cellular response to aldosterone [GO:1904045]; cellular response to estradiol stimulus [GO:0071392]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to nitric oxide [GO:0071732]; cellular response to oxygen-glucose deprivation [GO:0090650]; chromosome condensation [GO:0030261]; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress [GO:0070059]; mitochondrial respiratory chain complex I assembly [GO:0032981]; neuron apoptotic process [GO:0051402]; neuron differentiation [GO:0030182]; positive regulation of apoptotic process [GO:0043065]; positive regulation of neuron apoptotic process [GO:0043525]; regulation of apoptotic DNA fragmentation [GO:1902510]; response to ischemia [GO:0002931]; response to L-glutamate [GO:1902065]

snps:
rs863225432 rs184474885 rs724160026 rs724160021 rs724160020 rs863225431 rs724160022 rs281864468 rs724160023 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=AIF; IsoId=O95831-1; Sequence=Displayed; Name=2; IsoId=O95831-2; Sequence=VSP_004357; Name=3; Synonyms=AIF-exB, AIF2; IsoId=O95831-3; Sequence=VSP_022953; Note=Brain-specific.; Name=4; Synonyms=AIFsh2; IsoId=O95831-4; Sequence=VSP_043637, VSP_043638; Note=Does not induce nuclear apoptosis.; Name=5; Synonyms=AIFsh; IsoId=O95831-5; Sequence=VSP_046248; Note=Pro-apoptotic isoform, strongly down-regulated in many tumor cells, up-regulated by gamma-irradiation.; Name=6; IsoId=O95831-6; Sequence=VSP_047646, VSP_043637, VSP_043638; 

location:
SUBCELLULAR LOCATION: Mitochondrion intermembrane space. Mitochondrion inner membrane. Cytoplasm. Nucleus. Cytoplasm, perinuclear region. Note=Proteolytic cleavage during or just after translocation into the mitochondrial intermembrane space (IMS) results in the formation of an inner-membrane-anchored mature form (AIFmit). During apoptosis, further proteolytic processing leads to a mature form, which is confined to the mitochondrial IMS in a soluble form (AIFsol). AIFsol is released to the cytoplasm in response to specific death signals, and translocated to the nucleus, where it induces nuclear apoptosis. Colocalizes with EIF3G in the nucleus and perinuclear region.; SUBCELLULAR LOCATION: Isoform 3: Mitochondrion intermembrane space {ECO:0000269|PubMed:20111043}. Mitochondrion inner membrane {ECO:0000269|PubMed:20111043}. Note=Has a stronger membrane anchorage than isoform 1.; SUBCELLULAR LOCATION: Isoform 5: Cytoplasm {ECO:0000269|PubMed:16365034}.


uniprotID: P50052
geneSymbol: AGTR2
reactome: R-HSA-375276;R-HSA-418594;
pdb: 5UNF;5UNG;5UNH;
name: Type-2 angiotensin II receptor (Angiotensin II type-2 receptor) (AT2)
length: 363
go: ENSG00000180772;
drug: DB05739;DB01349;
snps: rs121917810 rs3729977 rs5191 rs1042860 rs35474657 rs121917811
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
extracellular region [GO:0005576]; integral component of plasma membrane [GO:0005887]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; angiotensin type II receptor activity [GO:0004945]; peptide hormone binding [GO:0017046]; receptor antagonist activity [GO:0048019]; transcription factor binding [GO:0008134]; aldosterone secretion [GO:0035932]; angiotensin-mediated vasodilation involved in regulation of systemic arterial blood pressure [GO:0002033]; blood vessel remodeling [GO:0001974]; brain development [GO:0007420]; brain renin-angiotensin system [GO:0002035]; cell growth involved in cardiac muscle cell development [GO:0061049]; cell surface receptor signaling pathway [GO:0007166]; cellular response to dexamethasone stimulus [GO:0071549]; cellular sodium ion homeostasis [GO:0006883]; cerebellar cortex development [GO:0021695]; dopamine biosynthetic process [GO:0042416]; exploration behavior [GO:0035640]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway coupled to cGMP nucleotide second messenger [GO:0007199]; inflammatory response [GO:0006954]; intracellular signal transduction [GO:0035556]; negative regulation of blood vessel endothelial cell migration [GO:0043537]; negative regulation of cell growth [GO:0030308]; negative regulation of fibroblast proliferation [GO:0048147]; negative regulation of heart rate [GO:0010459]; negative regulation of icosanoid secretion [GO:0032304]; negative regulation of neurotrophin TRK receptor signaling pathway [GO:0051387]; negative regulation of norepinephrine secretion [GO:0010700]; nitric oxide mediated signal transduction [GO:0007263]; positive regulation of branching involved in ureteric bud morphogenesis [GO:0090190]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cytokine secretion [GO:0050715]; positive regulation of extrinsic apoptotic signaling pathway [GO:2001238]; positive regulation of metanephric glomerulus development [GO:0072300]; positive regulation of nitric oxide biosynthetic process [GO:0045429]; positive regulation of nitric-oxide synthase activity [GO:0051000]; positive regulation of phosphoprotein phosphatase activity [GO:0032516]; positive regulation of renal sodium excretion [GO:0035815]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of blood pressure [GO:0008217]; regulation of metanephros size [GO:0035566]; regulation of protein import into nucleus [GO:0042306]; regulation of systemic arterial blood pressure by circulatory renin-angiotensin [GO:0001991]; renin-angiotensin regulation of aldosterone production [GO:0002018]; vasodilation [GO:0042311]


uniprotID: Q9P2G1
geneSymbol: ANKIB1
name: Ankyrin repeat and IBR domain-containing protein 1 (EC 2.3.2.31)
length: 1089
go: ENSG00000001629;
snps: rs38794
sequence:

opentargets:
cytoplasm [GO:0005737]; ubiquitin ligase complex [GO:0000151]; metal ion binding [GO:0046872]; ubiquitin conjugating enzyme binding [GO:0031624]; ubiquitin protein ligase activity [GO:0061630]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; protein polyubiquitination [GO:0000209]; ubiquitin-dependent protein catabolic process [GO:0006511]


uniprotID: Q9UKF5
geneSymbol: ADAM29
length: 820
go: ENSG00000168594;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Disintegrin and metalloproteinase domain-containing protein 29 (ADAM 29) (Cancer/testis antigen 73) (CT73)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237]; spermatogenesis [GO:0007283]

snps:
rs544557652 rs267600087 rs899870236 rs772388824 rs866380131 rs140083180 rs267600089 rs267600090 rs150047888 rs267600091 rs267600093 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=Alpha; IsoId=Q9UKF5-1; Sequence=Displayed; Name=Beta; IsoId=Q9UKF5-2; Sequence=VSP_005491; Name=Gamma; IsoId=Q9UKF5-3; Sequence=VSP_005492, VSP_005493; 


uniprotID: Q5VUY0
geneSymbol: AADACL3
name: Arylacetamide deacetylase-like 3 (EC 3.1.1.-)
length: 407
go: ENSG00000188984;
opentargets: integral component of membrane [GO:0016021]; carboxylic ester hydrolase activity [GO:0052689]
snps: rs3010877 rs3000859 rs17038445 rs7513079 rs3000931 rs11121969
sequence:


uniprotID: O95994
geneSymbol: AGR2
pdb: 2LNS;2LNT;
length: 175
go: ENSG00000106541;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:15834940}. Endoplasmic reticulum {ECO:0000250}.
name:
Anterior gradient protein 2 homolog (AG-2) (hAG-2) (HPC8) (Secreted cement gland protein XAG-2 homolog)

sequence:
MEKIPVSAFLLLVALSYTLARDTTVKPGAKKDTKDSRPKLPQTLSRGWGDQLIWTQTYEEALYKSKTSNKPLMIIHHLDECPHSQALKKVFAENKEIQKLAEQFVLLNLVYETTDKHLSPDGQYVPRIMFVDPSLTVRADITGRYSNRLYAYEPADTALLLDNMKKALKLLKTEL

opentargets:
endoplasmic reticulum [GO:0005783]; extracellular space [GO:0005615]; dystroglycan binding [GO:0002162]; epidermal growth factor receptor binding [GO:0005154]; protein homodimerization activity [GO:0042803]; digestive tract morphogenesis [GO:0048546]; lung goblet cell differentiation [GO:0060480]; mucus secretion [GO:0070254]; negative regulation of cell death [GO:0060548]; positive regulation of cell-substrate adhesion [GO:0010811]; positive regulation of developmental growth [GO:0048639]; positive regulation of epidermal growth factor receptor signaling pathway [GO:0045742]; positive regulation of gene expression [GO:0010628]; positive regulation of IRE1-mediated unfolded protein response [GO:1903896]; positive regulation of PERK-mediated unfolded protein response [GO:1903899]; positive regulation of protein localization to plasma membrane [GO:1903078]


uniprotID: P42568
geneSymbol: MLLT3
reactome: R-HSA-112382;R-HSA-674695;R-HSA-75955;
pdb: 2LM0;2MV7;2N4Q;2NDF;2NDG;4TMP;5HJB;5HJD;
length: 568
go: ENSG00000171843;
name:
Protein AF-9 (ALL1-fused gene from chromosome 9 protein) (Myeloid/lymphoid or mixed-lineage leukemia translocated to chromosome 3 protein) (YEATS domain-containing protein 3)

sequence:

opentargets:
chromosome [GO:0005694]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription elongation factor complex [GO:0008023]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone binding [GO:0042393]; lysine-acetylated histone binding [GO:0070577]; modification-dependent protein binding [GO:0140030]; anterior/posterior pattern specification [GO:0009952]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of Wnt signaling pathway, planar cell polarity pathway [GO:2000096]; segment specification [GO:0007379]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase II promoter [GO:0006368]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P42568-1; Sequence=Displayed; Name=2; IsoId=P42568-2; Sequence=VSP_054924; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00376, ECO:0000269|PubMed:27105114}. Chromosome {ECO:0000269|PubMed:25417107, ECO:0000269|PubMed:27105114}. Note=Colocalizes with acylated histone H3 (PubMed:25417107, PubMed:27105114). Colocalizes with histone H3 crotonylated at 'Lys-18' (H3K18cr) (PubMed:27105114). {ECO:0000269|PubMed:25417107, ECO:0000269|PubMed:27105114}.


uniprotID: Q5VW22
geneSymbol: AGAP6
length: 663
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 6 (AGAP-6) (Centaurin-gamma-like family member 3)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5VW22-1; Sequence=Displayed; Note=Prediction based on family homologs sequence.; Name=2; IsoId=Q5VW22-2; Sequence=VSP_040815; 


uniprotID: P15121
geneSymbol: AKR1B1
reactome: R-HSA-196108;R-HSA-5652227;
name: Aldose reductase (AR) (EC 1.1.1.21) (Aldehyde reductase) (Aldo-keto reductase family 1 member B1)
length: 316
go: ENSG00000085662;
snps: rs5054 rs5056 rs5057 rs2229542 rs5061 rs5062
location: SUBCELLULAR LOCATION: Cytoplasm.
pdb:
1ABN;1ADS;1AZ1;1AZ2;1EF3;1EL3;1IEI;1MAR;1PWL;1PWM;1T40;1T41;1US0;1X96;1X97;1X98;1XGD;1Z3N;1Z89;1Z8A;2ACQ;2ACR;2ACS;2ACU;2AGT;2DUX;2DUZ;2DV0;2F2K;2FZ8;2FZ9;2FZB;2FZD;2HV5;2HVN;2HVO;2I16;2I17;2IKG;2IKH;2IKI;2IKJ;2INE;2INZ;2IPW;2IQ0;2IQD;2IS7;2ISF;2J8T;2NVC;2NVD;2PD5;2PD9;2PDB;2PDC;2PDF;2PDG;2PDH;2PDI;2PDJ;2PDK;2PDL;2PDM;2PDN;2PDP;2PDQ;2PDU;2PDW;2PDX;2PDY;2PEV;2PF8;2PFH;2PZN;2QXW;2R24;3BCJ;3DN5;3G5E;3GHR;3GHS;3GHT;3GHU;3LBO;3LD5;3LEN;3LEP;3LQG;3LQL;3LZ3;3LZ5;3M0I;3M4H;3M64;3MB9;3MC5;3ONB;3ONC;3P2V;3Q65;3Q67;3RX2;3RX3;3RX4;3S3G;3T42;3U2C;3V35;3V36;4GCA;4GQ0;4IGS;4JIR;4LAU;4LAZ;4LB3;4LB4;4LBR;4LBS;4NKC;4PR4;4PRR;4PRT;4PUU;4PUW;4Q7B;4QBX;4QR6;4QX4;4QXI;4RPQ;4XZH;4XZI;4YS1;4YU1;5HA7;5OU0;5OUJ;5OUK;

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; mast cell granule [GO:0042629]; nucleoplasm [GO:0005654]; paranodal junction [GO:0033010]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane bounded cell projection cytoplasm [GO:0032838]; Schmidt-Lanterman incisure [GO:0043220]; Schwann cell microvillus [GO:0097454]; alcohol dehydrogenase (NADP+) activity [GO:0008106]; alditol:NADP+ 1-oxidoreductase activity [GO:0004032]; electron transfer activity [GO:0009055]; glyceraldehyde oxidoreductase activity [GO:0043795]; oxidoreductase activity [GO:0016491]; C21-steroid hormone biosynthetic process [GO:0006700]; carbohydrate metabolic process [GO:0005975]; cellular hyperosmotic salinity response [GO:0071475]; cellular response to methylglyoxal [GO:0097238]; cellular response to peptide [GO:1901653]; daunorubicin metabolic process [GO:0044597]; doxorubicin metabolic process [GO:0044598]; fructose biosynthetic process [GO:0046370]; inner medullary collecting duct development [GO:0072061]; maternal process involved in female pregnancy [GO:0060135]; naphthalene metabolic process [GO:0018931]; negative regulation of apoptotic process [GO:0043066]; norepinephrine metabolic process [GO:0042415]; oxidation-reduction process [GO:0055114]; positive regulation of JAK-STAT cascade [GO:0046427]; positive regulation of smooth muscle cell proliferation [GO:0048661]; regulation of urine volume [GO:0035809]; renal water homeostasis [GO:0003091]; response to thyroid hormone [GO:0097066]; response to water deprivation [GO:0009414]; sorbitol biosynthetic process [GO:0006061]; stress-activated protein kinase signaling cascade [GO:0031098]; tissue homeostasis [GO:0001894]

drug:
DB07028;DB07030;DB03461;DB07139;DB07187;DB02007;DB02020;DB05327;DB04272;DB02021;DB02994;DB02834;DB08084;DB01689;DB02518;DB00157;DB05383;DB02712;DB00605;DB02383;


uniprotID: Q8N556
geneSymbol: AFAP1
name: Actin filament-associated protein 1 (110 kDa actin filament-associated protein) (AFAP-110)
length: 730
go: ENSG00000196526;
snps: rs28406288 rs41264705
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, stress fiber {ECO:0000269|PubMed:15485829}.
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; actin binding [GO:0003779]; regulation of cytoskeleton organization [GO:0051493]; regulation of signal transduction [GO:0009966]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N556-1; Sequence=Displayed; Name=2; IsoId=Q8N556-2; Sequence=VSP_044838; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: O43823
geneSymbol: AKAP8
name: A-kinase anchor protein 8 (AKAP-8) (A-kinase anchor protein 95 kDa) (AKAP 95)
length: 692
go: ENSG00000105127;
sequence:

opentargets:
condensed chromosome [GO:0000793]; female pronucleus [GO:0001939]; Golgi apparatus [GO:0005794]; membrane [GO:0016020]; mitochondrion [GO:0005739]; nuclear matrix [GO:0016363]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; double-stranded DNA binding [GO:0003690]; histone deacetylase binding [GO:0042826]; NF-kappaB binding [GO:0051059]; protein kinase A regulatory subunit binding [GO:0034237]; RNA binding [GO:0003723]; zinc ion binding [GO:0008270]; cell cycle G2/M phase transition [GO:0044839]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to prostaglandin E stimulus [GO:0071380]; innate immune response [GO:0045087]; mitotic cell cycle [GO:0000278]; mitotic chromosome condensation [GO:0007076]; negative regulation of tumor necrosis factor production [GO:0032720]; positive regulation of histone deacetylation [GO:0031065]; protein transport [GO:0015031]; regulation of histone phosphorylation [GO:0033127]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19277197}. Nucleus matrix {ECO:0000269|PubMed:10601332}. Nucleus, nucleolus {ECO:0000269|PubMed:26683827}. Cytoplasm {ECO:0000250|UniProtKB:Q9DBR0}. Note=Associated with the nuclear matrix in interphase and redistributes mostly to chromatin at mitosis. However, mitotic chromatin localization has been questioned. Upon nuclear reassembly at the end of mitosis, is sequestered into the daughter nuclei where it re-acquires an interphase distribution. Localized to the nucleolus in interphase. Colocalizes with GJA1 at the nuclear membrane specifically during cell cycle G1/S phase. {ECO:0000269|PubMed:10601332, ECO:0000269|PubMed:26683827, ECO:0000269|PubMed:26880274}.


uniprotID: Q03154
geneSymbol: ACY1
reactome: R-HSA-5423646;R-HSA-5579007;
pdb: 1Q7L;
name: Aminoacylase-1 (ACY-1) (EC 3.5.1.14) (N-acyl-L-amino-acid amidohydrolase)
length: 408
go: ENSG00000243989;
drug: DB06151;DB00128;
snps: rs887540 rs121912700 rs121912699 rs121912698 rs150480963 rs148346337 rs2229152 rs121912701
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; aminoacylase activity [GO:0004046]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; metallopeptidase activity [GO:0008237]; cellular amino acid metabolic process [GO:0006520]; xenobiotic metabolic process [GO:0006805]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q03154-1; Sequence=Displayed; Name=2; IsoId=Q03154-2; Sequence=VSP_046877; Note=Gene prediction based on EST data.; Name=3; IsoId=Q03154-3; Sequence=VSP_046878; Note=Gene prediction based on EST data.; Name=4; IsoId=Q03154-4; Sequence=VSP_046876; Note=Gene prediction based on EST data.; 


uniprotID: Q7Z4H4
geneSymbol: ADM2
reactome: R-HSA-418555;R-HSA-419812;
length: 148
go: ENSG00000128165;
location: SUBCELLULAR LOCATION: Secreted.
name:
ADM2 (Intermedin) [Cleaved into: Adrenomedullin-2 (AM2) (Intermedin-long) (IMDL); Intermedin-short (IMDS)]

sequence:
MARIPTAALGCISLLCLQLPGSLSRSLGGDPRPVKPREPPARSPSSSLQPRHPAPRPVVWKLHRALQAQRGAGLAPVMGQPLRDGGRQHSGPRRHSGPRRTQAQLLRVGCVLGTCQVQNLSHRLWQLMGPAGRQDSAPVDPSSPHSYG

opentargets:
extracellular region [GO:0005576]; intracellular [GO:0005622]; hormone activity [GO:0005179]; protein-containing complex binding [GO:0044877]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; angiogenesis [GO:0001525]; digestion [GO:0007586]; feeding behavior [GO:0007631]; G protein-coupled receptor signaling pathway [GO:0007186]; negative regulation of blood pressure [GO:0045776]; positive regulation of angiogenesis [GO:0045766]; positive regulation of gene expression [GO:0010628]; protein phosphorylation [GO:0006468]


uniprotID: Q7Z591
geneSymbol: AKNA
name: AT-hook-containing transcription factor
length: 1439
go: ENSG00000106948;
snps: rs3748176 rs1265891 rs3748178 rs2250242 rs2787344
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11268217}.
sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; fibrillar center [GO:0001650]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; 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]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; Synonyms=B2, D; IsoId=Q7Z591-1; Sequence=Displayed; Name=2; Synonyms=E; IsoId=Q7Z591-2; Sequence=VSP_025936; Name=3; IsoId=Q7Z591-3; Sequence=VSP_025939; Name=4; IsoId=Q7Z591-4; Sequence=VSP_025932, VSP_025940; Note=No experimental confirmation available.; Name=5; Synonyms=F1; IsoId=Q7Z591-5; Sequence=VSP_025933; Name=6; IsoId=Q7Z591-6; Sequence=VSP_025937, VSP_025938; Name=7; Synonyms=A; IsoId=Q7Z591-7; Sequence=VSP_025935; Name=8; IsoId=Q7Z591-8; Sequence=VSP_025934; 


uniprotID: Q6P461
geneSymbol: ACSM6
reactome: R-HSA-77352;
length: 480
go: ENSG00000173124;
snps: rs591157 rs11188225 rs7090248
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
name:
Acyl-coenzyme A synthetase ACSM6, mitochondrial (EC 6.2.1.2) (Acyl-CoA synthetase medium-chain family member 6)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; acyl-CoA ligase activity [GO:0003996]; ATP binding [GO:0005524]; butyrate-CoA ligase activity [GO:0047760]; fatty acid ligase activity [GO:0015645]; fatty-acyl-CoA synthase activity [GO:0004321]; GTP binding [GO:0005525]; metal ion binding [GO:0046872]; acyl-CoA metabolic process [GO:0006637]; fatty acid biosynthetic process [GO:0006633]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6P461-1; Sequence=Displayed; Name=2; IsoId=Q6P461-2; Sequence=VSP_033908, VSP_033910, VSP_033911; Note=No experimental confirmation available.; Name=3; IsoId=Q6P461-3; Sequence=VSP_033909; Note=No experimental confirmation available.; 


uniprotID: Q6P093
geneSymbol: AADACL2
name: Arylacetamide deacetylase-like 2 (EC 3.1.1.-)
length: 401
go: ENSG00000197953;
drug: DB07814;DB07815;
snps: rs1972977 rs1052562
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; carboxylic ester hydrolase activity [GO:0052689]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6P093-1; Sequence=Displayed; Name=2; IsoId=Q6P093-3; Sequence=VSP_038389, VSP_038390; 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.; 


uniprotID: Q9Y653
geneSymbol: ADGRG1
length: 693
go: ENSG00000205336;
name:
Adhesion G-protein coupled receptor G1 (G-protein coupled receptor 56) (Protein TM7XN1) [Cleaved into: ADGRG1 N-terminal fragment (ADGRG1 NT) (GPR56 N-terminal fragment) (GPR56 NT) (GPR56(N)) (GPR56 extracellular subunit) (GPR56 subunit alpha); ADGRG1 C-terminal fragment (ADGRG1 CT) (GPR56 C-terminal fragment) (GPR56 CT) (GPR56(C)) (GPR56 seven-transmembrane subunit) (GPR56 7TM) (GPR56 subunit beta)]

sequence:

opentargets:
extracellular exosome [GO:0070062]; glial limiting end-foot [GO:0097451]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; membrane raft [GO:0045121]; collagen binding [GO:0005518]; extracellular matrix binding [GO:0050840]; G protein-coupled receptor activity [GO:0004930]; heparin binding [GO:0008201]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; angiogenesis [GO:0001525]; brain development [GO:0007420]; cell adhesion [GO:0007155]; cell migration [GO:0016477]; cell surface receptor signaling pathway [GO:0007166]; cell-cell signaling [GO:0007267]; cerebral cortex radial glia guided migration [GO:0021801]; cerebral cortex regionalization [GO:0021796]; G protein-coupled receptor signaling pathway [GO:0007186]; layer formation in cerebral cortex [GO:0021819]; negative regulation of cell proliferation [GO:0008285]; negative regulation of neuron migration [GO:2001223]; positive regulation of cell adhesion [GO:0045785]; positive regulation of neural precursor cell proliferation [GO:2000179]; positive regulation of Rho protein signal transduction [GO:0035025]; protein kinase C signaling [GO:0070528]; Rho protein signal transduction [GO:0007266]; seminiferous tubule development [GO:0072520]; vascular endothelial growth factor production [GO:0010573]

snps:
rs764367185 rs121908462 rs121908466 rs121908465 rs1801257 rs1801255 rs121908463 rs17379472 rs556518689 rs16958679 rs121908464 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9Y653-1; Sequence=Displayed; Name=2; Synonyms=S1; IsoId=Q9Y653-2; Sequence=VSP_035068; Name=3; Synonyms=S2; IsoId=Q9Y653-3; Sequence=VSP_047555, VSP_035068; Name=4; Synonyms=S3; IsoId=Q9Y653-4; Sequence=VSP_047556; Name=5; Synonyms=S4; IsoId=Q9Y653-5; Sequence=VSP_047554; Note=Has no predictable signal peptide.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21349848, ECO:0000269|PubMed:24949629}; Multi-pass membrane protein {ECO:0000255}.; SUBCELLULAR LOCATION: ADGRG1 N-terminal fragment: Secreted {ECO:0000269|PubMed:21349848}.; SUBCELLULAR LOCATION: ADGRG1 C-terminal fragment: Membrane raft {ECO:0000269|PubMed:24949629}. Note=Interaction with its ligand COL3A1 leads to the release of ADGRG1 NT from the membrane and triggers the association of ADGRG1 CT with lipid rafts. {ECO:0000269|PubMed:24949629}.


uniprotID: Q9H0P7
geneSymbol: AGPAT4-IT1
name: Putative uncharacterized protein encoded by AGPAT4-IT1 (AGPAT4 intronic transcript 1)
length: 198
sequence:
MADTQCCPPPCEFISSAGTDLALGMGWDATLCLLPFTGFGKCAGIWNHMDEEPDNGDDRGSRRTTGQGRKWAAHGTMAAPRVHTDYHPGGGSACSSVKVRSHVGHTGVFFFVDQDPLAVSLTSQSLIPPLIKPGLLKAWGFLLLCAQPSANGHSLCCLLYTDLVSSHELSPFRALCLGPSDAPSACASCNCLASTYYL


uniprotID: P08172
geneSymbol: CHRM2
reactome: R-HSA-390648;R-HSA-418594;R-HSA-8856825;R-HSA-8856828;
pdb: 1LUB;3UON;4MQS;4MQT;
name: Muscarinic acetylcholine receptor M2
length: 466
go: ENSG00000181072;
sequence:

opentargets:
asymmetric synapse [GO:0032279]; axon terminus [GO:0043679]; cell junction [GO:0030054]; cholinergic synapse [GO:0098981]; clathrin-coated vesicle membrane [GO:0030665]; dendrite [GO:0030425]; glutamatergic synapse [GO:0098978]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic membrane [GO:0099055]; integral component of presynaptic membrane [GO:0099056]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; symmetric synapse [GO:0032280]; arrestin family protein binding [GO:1990763]; drug binding [GO:0008144]; G protein-coupled acetylcholine receptor activity [GO:0016907]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled serotonin receptor activity [GO:0004993]; neurotransmitter receptor activity [GO:0030594]; adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway [GO:0007197]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; chemical synaptic transmission [GO:0007268]; G protein-coupled acetylcholine receptor signaling pathway [GO:0007213]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; membrane organization [GO:0061024]; nervous system development [GO:0007399]; phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway [GO:0007207]; regulation of heart contraction [GO:0008016]; regulation of smooth muscle contraction [GO:0006940]; regulation of synaptic vesicle exocytosis [GO:2000300]; response to virus [GO:0009615]

drug:
DB08897;DB05752;DB00321;DB00543;DB00517;DB01238;DB00572;DB00767;DB01019;DB00835;DB00411;DB01239;DB00568;DB00363;DB00907;DB00785;DB00434;DB00496;DB01151;DB00804;DB08801;DB01075;DB01231;DB00280;DB01135;DB01142;DB00392;DB06702;DB01148;DB00483;DB00986;DB00725;DB00424;DB00458;DB00332;DB01221;DB00408;DB00934;DB01403;DB00462;DB00340;DB01336;DB01226;DB00622;DB00540;DB00334;DB01062;DB00383;DB01337;DB00715;DB00454;DB01085;DB01338;DB00387;DB00420;DB01069;DB00777;DB01224;DB00728;DB00747;DB01591;DB00202;DB00342;DB01409;DB01036;DB00505;DB00508;DB00376;DB00726;DB00809;DB09076;DB00246;

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22278061, ECO:0000269|PubMed:24256733, ECO:0000269|PubMed:3443095}; Multi-pass membrane protein {ECO:0000269|PubMed:22278061, ECO:0000269|PubMed:24256733}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Note=Phosphorylation in response to agonist binding promotes receptor internalization. {ECO:0000250|UniProtKB:P06199}.


uniprotID: Q04771
geneSymbol: ACVR1
pdb: 3H9R;3MTF;3OOM;3Q4U;4BGG;4C02;4DYM;5OXG;5OY6;6EIX;6GI6;6GIN;6GIP;
length: 509
go: ENSG00000115170;
drug: DB00171;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Activin receptor type-1 (EC 2.7.11.30) (Activin receptor type I) (ACTR-I) (Activin receptor-like kinase 2) (ALK-2) (Serine/threonine-protein kinase receptor R1) (SKR1) (TGF-B superfamily receptor type I) (TSR-I)

sequence:

opentargets:
activin receptor complex [GO:0048179]; apical part of cell [GO:0045177]; integral component of plasma membrane [GO:0005887]; receptor complex [GO:0043235]; activin binding [GO:0048185]; activin receptor activity, type I [GO:0016361]; ATP binding [GO:0005524]; BMP receptor activity [GO:0098821]; growth factor binding [GO:0019838]; metal ion binding [GO:0046872]; peptide hormone binding [GO:0017046]; protein homodimerization activity [GO:0042803]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; SMAD binding [GO:0046332]; transforming growth factor beta binding [GO:0050431]; transforming growth factor beta receptor activity, type I [GO:0005025]; transforming growth factor beta-activated receptor activity [GO:0005024]; transmembrane receptor protein serine/threonine kinase activity [GO:0004675]; activin receptor signaling pathway [GO:0032924]; acute inflammatory response [GO:0002526]; atrial septum primum morphogenesis [GO:0003289]; atrioventricular valve morphogenesis [GO:0003181]; BMP signaling pathway [GO:0030509]; BMP signaling pathway involved in heart development [GO:0061312]; branching involved in blood vessel morphogenesis [GO:0001569]; cardiac muscle cell fate commitment [GO:0060923]; cellular response to BMP stimulus [GO:0071773]; determination of left/right symmetry [GO:0007368]; embryonic heart tube morphogenesis [GO:0003143]; endocardial cushion cell fate commitment [GO:0061445]; endocardial cushion fusion [GO:0003274]; endocardial cushion morphogenesis [GO:0003203]; G1/S transition of mitotic cell cycle [GO:0000082]; gastrulation with mouth forming second [GO:0001702]; germ cell development [GO:0007281]; heart development [GO:0007507]; in utero embryonic development [GO:0001701]; mesoderm formation [GO:0001707]; mitral valve morphogenesis [GO:0003183]; negative regulation of activin receptor signaling pathway [GO:0032926]; negative regulation of extrinsic apoptotic signaling pathway [GO:2001237]; negative regulation of signal transduction [GO:0009968]; neural crest cell migration [GO:0001755]; pathway-restricted SMAD protein phosphorylation [GO:0060389]; pattern specification process [GO:0007389]; peptidyl-threonine phosphorylation [GO:0018107]; pharyngeal system development [GO:0060037]; positive regulation of bone mineralization [GO:0030501]; positive regulation of cell migration [GO:0030335]; positive regulation of determination of dorsal identity [GO:2000017]; positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation [GO:1905007]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; protein phosphorylation [GO:0006468]; regulation of ossification [GO:0030278]; smooth muscle cell differentiation [GO:0051145]; transforming growth factor beta receptor signaling pathway [GO:0007179]; ventricular septum morphogenesis [GO:0060412]

snps:
rs13406336 rs55957214 rs34056189 rs387906591 rs121912678 rs387906589 rs387906588 rs387906588 rs121912679 rs387906590 


uniprotID: Q7Z6V5
geneSymbol: ADAT2
reactome: R-HSA-6782315;
pdb: 3DH1;
length: 191
go: ENSG00000189007;
name:
tRNA-specific adenosine deaminase 2 (EC 3.5.4.33) (Deaminase domain-containing protein 1) (tRNA-specific adenosine-34 deaminase subunit ADAT2)

sequence:
MEAKAAPKPAASGACSVSAEETEKWMEEAMHMAKEALENTEVPVGCLMVYNNEVVGKGRNEVNQTKNATRHAEMVAIDQVLDWCRQSGKSPSEVFEHTVLYVTVEPCIMCAAALRLMKIPLVVYGCQNERFGGCGSVLNIASADLPNTGRPFQCIPGYRAEEAVEMLKTFYKQENPNAPKSKVRKKECQKS

opentargets:
nucleoplasm [GO:0005654]; tRNA-specific adenosine-34 deaminase complex [GO:0052718]; tRNA-specific adenosine-34 deaminase activity [GO:0052717]; zinc ion binding [GO:0008270]; tRNA modification [GO:0006400]; tRNA wobble adenosine to inosine editing [GO:0002100]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z6V5-1; Sequence=Displayed; Name=2; IsoId=Q7Z6V5-2; Sequence=VSP_025582; 


uniprotID: Q86Y34
geneSymbol: ADGRG3
reactome: R-HSA-6798695;
length: 549
go: ENSG00000182885;
snps: rs2290178
name:
Adhesion G protein-coupled receptor G3 (G-protein coupled receptor 97) (G-protein coupled receptor PGR26)

sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; G protein-coupled receptor activity [GO:0004930]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; B cell differentiation [GO:0030183]; cell surface receptor signaling pathway [GO:0007166]; G protein-coupled receptor signaling pathway [GO:0007186]; negative regulation of CREB transcription factor activity [GO:0032792]; negative regulation of NIK/NF-kappaB signaling [GO:1901223]; neutrophil degranulation [GO:0043312]; regulation of cell migration [GO:0030334]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22575658}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q5VUJ5
geneSymbol: AGAP7P
length: 663
opentargets: nucleus [GO:0005634]; GTPase activator activity [GO:0005096]; metal ion binding [GO:0046872]
name:
Putative Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 7 (AGAP-7) (Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 7 pseudogene) (Centaurin-gamma-like family member 4)

sequence:


uniprotID: P13798
geneSymbol: APEH
reactome: R-HSA-6798695;R-HSA-72764;
length: 732
go: ENSG00000164062;
snps: rs3816877
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Acylamino-acid-releasing enzyme (AARE) (EC 3.4.19.1) (Acyl-peptide hydrolase) (APH) (Acylaminoacyl-peptidase) (Oxidized protein hydrolase) (OPH)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; nuclear membrane [GO:0031965]; identical protein binding [GO:0042802]; omega peptidase activity [GO:0008242]; RNA binding [GO:0003723]; serine-type endopeptidase activity [GO:0004252]; amyloid-beta metabolic process [GO:0050435]; neutrophil degranulation [GO:0043312]; proteolysis [GO:0006508]; translational termination [GO:0006415]


uniprotID: Q9BYV1
geneSymbol: AGXT2
reactome: R-HSA-389661;R-HSA-73621;
length: 514
go: ENSG00000113492;
drug: DB00145;DB00160;DB00114;DB00119;
snps: rs37370 rs37370 rs37370 rs16870794 rs37369 rs180749 rs17245714 rs16899974
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:20018850, ECO:0000269|PubMed:24586340}.
name:
Alanine--glyoxylate aminotransferase 2, mitochondrial (AGT 2) (EC 2.6.1.44) ((R)-3-amino-2-methylpropionate--pyruvate transaminase) (EC 2.6.1.40) (Beta-ALAAT II) (Beta-alanine-pyruvate aminotransferase) (D-AIBAT)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; (R)-3-amino-2-methylpropionate-pyruvate transaminase activity [GO:0047305]; alanine-glyoxylate transaminase activity [GO:0008453]; pyridoxal phosphate binding [GO:0030170]; glycine biosynthetic process, by transamination of glyoxylate [GO:0019265]; glyoxylate catabolic process [GO:0009436]; glyoxylate metabolic process [GO:0046487]; L-alanine catabolic process, by transamination [GO:0019481]; positive regulation of nitric oxide biosynthetic process [GO:0045429]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BYV1-1; Sequence=Displayed; Name=2; IsoId=Q9BYV1-2; Sequence=VSP_055802; Note=No experimental confirmation available.; 


uniprotID: O14561
geneSymbol: NDUFAB1
reactome: R-HSA-389661;R-HSA-611105;R-HSA-6799198;R-HSA-77289;
pdb: 2DNW;5OOL;5OOM;5XTB;5XTC;5XTD;5XTH;5XTI;
length: 156
go: ENSG00000004779;
drug: DB00157;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:12611891, ECO:0000269|PubMed:28892042}.
name:
Acyl carrier protein, mitochondrial (ACP) (CI-SDAP) (NADH-ubiquinone oxidoreductase 9.6 kDa subunit)

sequence:
MASRVLSAYVSRLPAAFAPLPRVRMLAVARPLSTALCSAGTQTRLGTLQPALVLAQVPGRVTQLCRQYSDMPPLTLEGIQDRVLYVLKLYDKIDPEKLSVNSHFMKDLGLDSLDQVEIIMAMEDEFGFEIPDIDAEKLMCPQEIVDYIADKKDVYE

opentargets:
cytosol [GO:0005829]; mitochondrial inner membrane [GO:0005743]; mitochondrial matrix [GO:0005759]; mitochondrial membrane [GO:0031966]; mitochondrial respiratory chain complex I [GO:0005747]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; acyl binding [GO:0000035]; acyl carrier activity [GO:0000036]; calcium ion binding [GO:0005509]; fatty acid binding [GO:0005504]; NADH dehydrogenase (ubiquinone) activity [GO:0008137]; phosphopantetheine binding [GO:0031177]; fatty acid biosynthetic process [GO:0006633]; lipid A biosynthetic process [GO:0009245]; mitochondrial electron transport, NADH to ubiquinone [GO:0006120]; mitochondrial respiratory chain complex I assembly [GO:0032981]; protein lipoylation [GO:0009249]


uniprotID: P00813
geneSymbol: ADA
reactome: R-HSA-74217;
pdb: 1M7M;3IAR;
name: Adenosine deaminase (EC 3.5.4.4) (Adenosine aminohydrolase)
length: 363
go: ENSG00000196839;
sequence:

opentargets:
cell junction [GO:0030054]; cell surface [GO:0009986]; cytoplasmic vesicle lumen [GO:0060205]; cytosol [GO:0005829]; dendrite cytoplasm [GO:0032839]; external side of plasma membrane [GO:0009897]; extracellular space [GO:0005615]; lysosome [GO:0005764]; membrane [GO:0016020]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; adenosine deaminase activity [GO:0004000]; purine nucleoside binding [GO:0001883]; zinc ion binding [GO:0008270]; adenosine catabolic process [GO:0006154]; aging [GO:0007568]; cell adhesion [GO:0007155]; dATP catabolic process [GO:0046061]; deoxyadenosine catabolic process [GO:0006157]; embryonic digestive tract development [GO:0048566]; germinal center B cell differentiation [GO:0002314]; histamine secretion [GO:0001821]; hypoxanthine salvage [GO:0043103]; inosine biosynthetic process [GO:0046103]; liver development [GO:0001889]; lung alveolus development [GO:0048286]; negative regulation of adenosine receptor signaling pathway [GO:0060169]; negative regulation of circadian sleep/wake cycle, non-REM sleep [GO:0042323]; negative regulation of inflammatory response [GO:0050728]; negative regulation of leukocyte migration [GO:0002686]; negative regulation of mature B cell apoptotic process [GO:0002906]; negative regulation of mucus secretion [GO:0070256]; negative regulation of penile erection [GO:0060407]; negative regulation of thymocyte apoptotic process [GO:0070244]; Peyer's patch development [GO:0048541]; placenta development [GO:0001890]; positive regulation of alpha-beta T cell differentiation [GO:0046638]; positive regulation of B cell proliferation [GO:0030890]; positive regulation of calcium-mediated signaling [GO:0050850]; positive regulation of germinal center formation [GO:0002636]; positive regulation of heart rate [GO:0010460]; positive regulation of smooth muscle contraction [GO:0045987]; positive regulation of T cell differentiation in thymus [GO:0033089]; positive regulation of T cell receptor signaling pathway [GO:0050862]; purine nucleotide salvage [GO:0032261]; purine ribonucleoside monophosphate biosynthetic process [GO:0009168]; purine-containing compound salvage [GO:0043101]; regulation of cell-cell adhesion mediated by integrin [GO:0033632]; response to hydrogen peroxide [GO:0042542]; response to hypoxia [GO:0001666]; response to morphine [GO:0043278]; response to vitamin E [GO:0033197]; T cell activation [GO:0042110]; trophectodermal cell differentiation [GO:0001829]; xanthine biosynthetic process [GO:0046111]

drug:
DB07783;DB04218;DB00640;DB00975;DB00974;DB05057;DB02616;DB02096;DB03572;DB03220;DB02830;DB03370;DB01280;DB00552;DB04440;DB00277;DB00194;

snps:
rs73598374 rs121908725 rs121908724 rs121908730 rs121908736 rs11555566 rs121908726 rs267606634 rs121908714 rs121908714 rs121908717 rs267606635 rs121908739 rs121908731 rs121908732 rs61732239 rs121908737 rs121908733 rs121908728 rs121908735 rs121908722 rs121908719 rs121908727 rs121908734 rs121908740 rs121908716 rs114025668 rs121908723 rs121908729 rs121908738 rs121908721 rs121908718 rs199422327 rs121908715 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11772392, ECO:0000269|PubMed:8101391}; Peripheral membrane protein; Extracellular side. Cell junction {ECO:0000269|PubMed:11772392}. Cytoplasmic vesicle lumen {ECO:0000250|UniProtKB:P03958}. Cytoplasm {ECO:0000250}. Lysosome {ECO:0000269|PubMed:8452534}. Note=Colocalized with DPP4 at the cell surface. {ECO:0000269|PubMed:11772392}.


uniprotID: Q08117
geneSymbol: AES
reactome: R-HSA-4641265;
length: 197
go: ENSG00000104964;
snps: rs1802578
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
Amino-terminal enhancer of split (Amino enhancer of split) (Gp130-associated protein GAM) (Grg-5) (Groucho-related protein 5) (Protein ESP1) (Protein GRG)

sequence:
MMFPQSRHSGSSHLPQQLKFTTSDSCDRIKDEFQLLQAQYHSLKLECDKLASEKSEMQRHYVMYYEMSYGLNIEMHKQAEIVKRLNGICAQVLPYLSQEHQQQVLGAIERAKQVTAPELNSIIRQQLQAHQLSQLQALALPLTPLPVGLQPPSLPAVSAGTGLLSLSALGSQAHLSKEDKNGHDGDTHQEDDGEKSD

opentargets:
nucleus [GO:0005634]; transcription factor complex [GO:0005667]; identical protein binding [GO:0042802]; repressing transcription factor binding [GO:0070491]; transcription corepressor activity [GO:0003714]; animal organ morphogenesis [GO:0009887]; cellular response to extracellular stimulus [GO:0031668]; multicellular organism development [GO:0007275]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of gene expression [GO:0010629]; negative regulation of protein binding [GO:0032091]; negative regulation of response to cytokine stimulus [GO:0060761]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of anoikis [GO:2000210]; regulation of growth [GO:0040008]; response to interleukin-1 [GO:0070555]; skeletal system development [GO:0001501]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=AES-1; IsoId=Q08117-1; Sequence=Displayed; Name=2; Synonyms=AES-2; IsoId=Q08117-2; Sequence=VSP_043527; 


uniprotID: O43306
geneSymbol: ADCY6
length: 1168
go: ENSG00000174233;
snps: rs3730071 rs786204798
reactome:
R-HSA-163359;R-HSA-163615;R-HSA-164378;R-HSA-170660;R-HSA-170670;R-HSA-381676;R-HSA-400042;R-HSA-418555;R-HSA-418594;R-HSA-418597;R-HSA-432040;R-HSA-5610787;

name:
Adenylate cyclase type 6 (EC 4.6.1.1) (ATP pyrophosphate-lyase 6) (Adenylate cyclase type VI) (Adenylyl cyclase 6) (Ca(2+)-inhibitable adenylyl cyclase)

sequence:

opentargets:
cilium [GO:0005929]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; intrinsic component of plasma membrane [GO:0031226]; membrane [GO:0016020]; plasma membrane [GO:0005886]; adenylate cyclase activity [GO:0004016]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; protein kinase binding [GO:0019901]; protein kinase C binding [GO:0005080]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; cAMP biosynthetic process [GO:0006171]; cellular response to catecholamine stimulus [GO:0071870]; cellular response to forskolin [GO:1904322]; cellular response to glucagon stimulus [GO:0071377]; cellular response to prostaglandin E stimulus [GO:0071380]; cellular response to vasopressin [GO:1904117]; dopamine receptor signaling pathway [GO:0007212]; G protein-coupled receptor signaling pathway [GO:0007186]; negative regulation of neuron projection development [GO:0010977]; negative regulation of urine volume [GO:0035811]; regulation of blood vessel diameter [GO:0097746]; renal water homeostasis [GO:0003091]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43306-1; Sequence=Displayed; Name=2; IsoId=O43306-2; Sequence=VSP_000244; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17110384}; Multi-pass membrane protein {ECO:0000305}. Cell projection, cilium {ECO:0000250|UniProtKB:Q01341}.


uniprotID: Q08AH3
geneSymbol: ACSM2A
reactome: R-HSA-177128;
pdb: 2VZE;2WD9;3B7W;3C5E;3DAY;3EQ6;3GPC;
length: 577
go: ENSG00000183747;
snps: rs4643305 rs4586421 rs1133607 rs1054977
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250}.
name:
Acyl-coenzyme A synthetase ACSM2A, mitochondrial (EC 6.2.1.2) (Acyl-CoA synthetase medium-chain family member 2A) (Butyrate--CoA ligase 2A) (Butyryl-coenzyme A synthetase 2A) (Middle-chain acyl-CoA synthetase 2A)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; acyl-CoA ligase activity [GO:0003996]; ATP binding [GO:0005524]; butyrate-CoA ligase activity [GO:0047760]; fatty acid ligase activity [GO:0015645]; fatty-acyl-CoA synthase activity [GO:0004321]; metal ion binding [GO:0046872]; acyl-CoA metabolic process [GO:0006637]; fatty acid biosynthetic process [GO:0006633]; glucose homeostasis [GO:0042593]; medium-chain fatty-acyl-CoA metabolic process [GO:0036112]; triglyceride homeostasis [GO:0070328]


uniprotID: Q9H8T0
geneSymbol: AKTIP
name: AKT-interacting protein (Ft1) (Fused toes protein homolog)
length: 292
go: ENSG00000166971;
sequence:

opentargets:
cytosol [GO:0005829]; FHF complex [GO:0070695]; plasma membrane [GO:0005886]; apoptotic process [GO:0006915]; early endosome to late endosome transport [GO:0045022]; endosome organization [GO:0007032]; endosome to lysosome transport [GO:0008333]; lysosome organization [GO:0007040]; positive regulation of protein binding [GO:0032092]; positive regulation of protein phosphorylation [GO:0001934]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H8T0-1; Sequence=Displayed; Name=2; IsoId=Q9H8T0-2; Sequence=VSP_037631; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14749367}. Cell membrane {ECO:0000269|PubMed:14749367}; Peripheral membrane protein {ECO:0000269|PubMed:14749367}.


uniprotID: Q6NUN0
geneSymbol: ACSM5
reactome: R-HSA-177128;
length: 579
go: ENSG00000183549;
snps: rs9928053 rs559741756 rs7192210 rs59025904 rs8062344 rs12931877 rs554734865
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250}.
name:
Acyl-coenzyme A synthetase ACSM5, mitochondrial (EC 6.2.1.2) (Acyl-CoA synthetase medium-chain family member 5)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; acyl-CoA ligase activity [GO:0003996]; ATP binding [GO:0005524]; butyrate-CoA ligase activity [GO:0047760]; fatty acid ligase activity [GO:0015645]; fatty-acyl-CoA synthase activity [GO:0004321]; GTP binding [GO:0005525]; metal ion binding [GO:0046872]; acyl-CoA metabolic process [GO:0006637]; fatty acid biosynthetic process [GO:0006633]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6NUN0-1; Sequence=Displayed; Name=2; IsoId=Q6NUN0-2; Sequence=VSP_028398; Note=No experimental confirmation available.; 


uniprotID: Q9BRQ8
geneSymbol: AIFM2
reactome: R-HSA-6803204;
length: 373
go: ENSG00000042286;
snps: rs10999147 rs2271694
name:
Apoptosis-inducing factor 2 (EC 1.-.-.-) (Apoptosis-inducing factor homologous mitochondrion-associated inducer of death) (Apoptosis-inducing factor-like mitochondrion-associated inducer of death) (p53-responsive gene 3 protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; lipid droplet [GO:0005811]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; DNA binding [GO:0003677]; electron-transferring-flavoprotein dehydrogenase activity [GO:0004174]; flavin adenine dinucleotide binding [GO:0050660]; apoptotic mitochondrial changes [GO:0008637]; positive regulation of apoptotic process [GO:0043065]; regulation of apoptotic process [GO:0042981]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:11980907, ECO:0000269|PubMed:12135761}; IsoId=Q9BRQ8-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:15489334}; IsoId=Q9BRQ8-2; Sequence=VSP_052047, VSP_052048; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Mitochondrion outer membrane. Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}.


uniprotID: Q96M93
geneSymbol: ADAD1
name: Adenosine deaminase domain-containing protein 1 (Testis nuclear RNA-binding protein)
length: 576
go: ENSG00000164113;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleolus [GO:0005730]; nucleus [GO:0005634]; double-stranded RNA adenosine deaminase activity [GO:0003726]; double-stranded RNA binding [GO:0003725]; tRNA-specific adenosine deaminase activity [GO:0008251]; adenosine to inosine editing [GO:0006382]; multicellular organism development [GO:0007275]; RNA processing [GO:0006396]; spermatid development [GO:0007286]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96M93-1; Sequence=Displayed; Name=2; IsoId=Q96M93-2; Sequence=VSP_029226; Name=3; IsoId=Q96M93-3; Sequence=VSP_029225; 


uniprotID: Q9P0K1
geneSymbol: ADAM22
reactome: R-HSA-5682910;
pdb: 3G5C;5Y2Z;5Y31;
length: 906
go: ENSG00000008277;
snps: rs2279542 rs4728730 rs17255978
name:
Disintegrin and metalloproteinase domain-containing protein 22 (ADAM 22) (Metalloproteinase-disintegrin ADAM22-3) (Metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2)

sequence:

opentargets:
axon [GO:0030424]; glutamatergic synapse [GO:0098978]; integral component of membrane [GO:0016021]; integral component of postsynaptic density membrane [GO:0099061]; plasma membrane [GO:0005886]; integrin binding [GO:0005178]; metalloendopeptidase activity [GO:0004222]; adult locomotory behavior [GO:0008344]; cell adhesion [GO:0007155]; central nervous system development [GO:0007417]; myelination in peripheral nervous system [GO:0022011]; negative regulation of cell adhesion [GO:0007162]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=Epsilon; IsoId=Q9P0K1-1; Sequence=Displayed; Name=2; Synonyms=Delta; IsoId=Q9P0K1-2; Sequence=VSP_005482, VSP_005484; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. {ECO:0000305}; Name=3; Synonyms=Alpha; IsoId=Q9P0K1-3; Sequence=VSP_005483; Name=4; Synonyms=Beta; IsoId=Q9P0K1-4; Sequence=VSP_005482, VSP_005483; Name=5; IsoId=Q9P0K1-5; Sequence=VSP_005482; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:27066583}; Single-pass type I membrane protein {ECO:0000305}. Cell projection, axon {ECO:0000250|UniProtKB:Q9R1V6}.


uniprotID: P13945
geneSymbol: ADRB3
reactome: R-HSA-390696;R-HSA-418555;
pdb: 2CDW;
name: Beta-3 adrenergic receptor (Beta-3 adrenoreceptor) (Beta-3 adrenoceptor)
length: 408
go: ENSG00000188778;
snps: rs4994 rs28364012 rs4995 rs36031925
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; adrenergic receptor activity [GO:0004935]; beta-adrenergic receptor activity [GO:0004939]; beta3-adrenergic receptor activity [GO:0015052]; epinephrine binding [GO:0051379]; norepinephrine binding [GO:0051380]; protein homodimerization activity [GO:0042803]; activation of adenylate cyclase activity [GO:0007190]; adenylate cyclase-activating adrenergic receptor signaling pathway [GO:0071880]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; carbohydrate metabolic process [GO:0005975]; energy reserve metabolic process [GO:0006112]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; generation of precursor metabolites and energy [GO:0006091]; norepinephrine-epinephrine-mediated vasodilation involved in regulation of systemic arterial blood pressure [GO:0002025]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of MAPK cascade [GO:0043410]

drug:
DB00321;DB00182;DB01102;DB00217;DB08807;DB06726;DB08808;DB01407;DB06262;DB01363;DB00668;DB01288;DB01064;DB01365;DB08893;DB00368;DB00540;DB00334;DB00571;DB06190;DB05395;DB00726;


uniprotID: Q5TGY3
geneSymbol: AHDC1
name: AT-hook DNA-binding motif-containing protein 1
length: 1603
go: ENSG00000126705;
opentargets: DNA binding [GO:0003677]
snps: rs4908364
sequence:


uniprotID: Q9H0C2
geneSymbol: SLC25A31
length: 315
go: ENSG00000151475;
name:
ADP/ATP translocase 4 (ADP,ATP carrier protein 4) (Adenine nucleotide translocator 4) (ANT 4) (Solute carrier family 25 member 31) (Sperm flagellar energy carrier protein)

sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; motile cilium [GO:0031514]; nucleus [GO:0005634]; ATP:ADP antiporter activity [GO:0005471]

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein. Cell projection, cilium, flagellum. Note=In sperm flagellum this protein is located in the fibrous sheath, a non-mitochondrial region.


uniprotID: Q9NUB1
geneSymbol: ACSS1
reactome: R-HSA-71384;
pdb: 3GLR;3GLT;3GLU;4BVE;4BVF;4BVG;4C78;5Y4H;5YTK;
length: 689
go: ENSG00000154930;
drug: DB00131;DB00171;
snps: rs6050249
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:16788062}.
name:
Acetyl-coenzyme A synthetase 2-like, mitochondrial (EC 6.2.1.1) (Acetate--CoA ligase 2) (Acetyl-CoA synthetase 2) (AceCS2) (Acyl-CoA synthetase short-chain family member 1)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; acetate-CoA ligase activity [GO:0003987]; AMP binding [GO:0016208]; ATP binding [GO:0005524]; acetate biosynthetic process [GO:0019413]; acetyl-CoA biosynthetic process [GO:0006085]; acetyl-CoA biosynthetic process from acetate [GO:0019427]; ethanol oxidation [GO:0006069]; propionate biosynthetic process [GO:0019542]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9NUB1-1; Sequence=Displayed; Name=2; IsoId=Q9NUB1-2; Sequence=VSP_007249; Note=No experimental confirmation available.; Name=3; IsoId=Q9NUB1-3; Sequence=VSP_044693, VSP_044694; Note=No experimental confirmation available.; Name=4; IsoId=Q9NUB1-4; Sequence=VSP_045546, VSP_045547; Note=No experimental confirmation available.; 


uniprotID: O00170
geneSymbol: AIP
reactome: R-HSA-8937144;R-HSA-8950505;
pdb: 2LKN;4AIF;4APO;
length: 330
snps: rs145047094 rs641081 rs4930199
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
AH receptor-interacting protein (AIP) (Aryl-hydrocarbon receptor-interacting protein) (HBV X-associated protein 2) (XAP-2) (Immunophilin homolog ARA9)

sequence:

opentargets:
aryl hydrocarbon receptor complex [GO:0034751]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; aryl hydrocarbon receptor binding [GO:0017162]; GAF domain binding [GO:0036004]; transcription coactivator activity [GO:0003713]; transcription factor binding [GO:0008134]; unfolded protein binding [GO:0051082]; interleukin-12-mediated signaling pathway [GO:0035722]; negative regulation of cyclic-nucleotide phosphodiesterase activity [GO:0051344]; protein maturation by protein folding [GO:0022417]; protein targeting to mitochondrion [GO:0006626]; regulation of protein kinase A signaling [GO:0010738]; xenobiotic metabolic process [GO:0006805]


uniprotID: Q09666
geneSymbol: AHNAK
pdb: 4DRW;4FTG;4HRG;
name: Neuroblast differentiation-associated protein AHNAK (Desmoyokin)
length: 5890
go: ENSG00000124942;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cell-cell contact zone [GO:0044291]; costamere [GO:0043034]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; sarcolemma [GO:0042383]; T-tubule [GO:0030315]; vesicle [GO:0031982]; cadherin binding [GO:0045296]; RNA binding [GO:0003723]; S100 protein binding [GO:0044548]; structural molecule activity conferring elasticity [GO:0097493]; protein complex oligomerization [GO:0051259]; regulation of RNA splicing [GO:0043484]; regulation of voltage-gated calcium channel activity [GO:1901385]

snps:
rs664761 rs1298288 rs61524789 rs11824660 rs566144 rs11231129 rs11231128 rs11828907 rs12795508 rs12801302 rs12801153 rs12801123 rs11231126 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q09666-1; Sequence=Displayed; Name=2; IsoId=Q09666-2; Sequence=VSP_044233, VSP_044234; 


uniprotID: P43652
geneSymbol: AFM
pdb: 5OKL;
name: Afamin (Alpha-albumin) (Alpha-Alb)
length: 599
go: ENSG00000079557;
snps: rs41265665 rs2276444
sequence:

opentargets:
blood microparticle [GO:0072562]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; vitamin E binding [GO:0008431]; protein stabilization [GO:0050821]; protein transport within extracellular region [GO:0071693]; vitamin transport [GO:0051180]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:12463752, ECO:0000269|PubMed:15952736, ECO:0000269|PubMed:26902720, ECO:0000269|PubMed:7517938}.


uniprotID: P51857
geneSymbol: AKR1D1
reactome: R-HSA-193368;R-HSA-193775;R-HSA-193807;
pdb: 3BUR;3BUV;3BV7;3CAQ;3CAS;3CAV;3CMF;3COT;3DOP;3G1R;3UZW;3UZX;3UZY;3UZZ;
length: 326
go: ENSG00000122787;
drug: DB07447;DB00548;DB01216;
snps: rs121918343 rs267606649 rs121918342 rs267606650
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
3-oxo-5-beta-steroid 4-dehydrogenase (EC 1.3.1.3) (Aldo-keto reductase family 1 member D1) (Delta(4)-3-ketosteroid 5-beta-reductase) (Delta(4)-3-oxosteroid 5-beta-reductase)

sequence:

opentargets:
cytosol [GO:0005829]; alcohol dehydrogenase (NADP+) activity [GO:0008106]; alditol:NADP+ 1-oxidoreductase activity [GO:0004032]; aldo-keto reductase (NADP) activity [GO:0004033]; delta4-3-oxosteroid 5beta-reductase activity [GO:0047787]; ketosteroid monooxygenase activity [GO:0047086]; oxidoreductase activity [GO:0016491]; steroid binding [GO:0005496]; steroid dehydrogenase activity [GO:0016229]; androgen metabolic process [GO:0008209]; bile acid biosynthetic process [GO:0006699]; bile acid catabolic process [GO:0030573]; C21-steroid hormone metabolic process [GO:0008207]; cholesterol catabolic process [GO:0006707]; digestion [GO:0007586]; oxidation-reduction process [GO:0055114]; steroid metabolic process [GO:0008202]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P51857-1; Sequence=Displayed; Name=2; IsoId=P51857-2; Sequence=VSP_042901; Note=No experimental confirmation available.; Name=3; IsoId=P51857-3; Sequence=VSP_042913; Note=No experimental confirmation available.; 


