# annotation

uniprotID: P04141
geneSymbol: CSF2
reactome: R-HSA-512988;R-HSA-5673001;R-HSA-6783783;R-HSA-8939246;R-HSA-912526;
pdb: 1CSG;2GMF;4NKQ;4RS1;5C7X;5D70;5D71;5D72;6BFQ;6BFS;
length: 144
go: ENSG00000164400;
drug: DB05194;
snps: rs2069640 rs25882
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:1737041, ECO:0000269|PubMed:3925454}.
name:
Granulocyte-macrophage colony-stimulating factor (GM-CSF) (Colony-stimulating factor) (CSF) (Molgramostin) (Sargramostim)

sequence:
MWLQSLLLLGTVACSISAPARSPSPSTQPWEHVNAIQEARRLLNLSRDTAAEMNETVEVISEMFDLQEPTCLQTRLELYKQGLRGSLTKLKGPLTMMASHYKQHCPPTPETSCATQIITFESFKENLKDFLLVIPFDCWEPVQE

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular membrane-bounded organelle [GO:0043231]; cytokine activity [GO:0005125]; granulocyte macrophage colony-stimulating factor receptor binding [GO:0005129]; growth factor activity [GO:0008083]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; cellular response to granulocyte macrophage colony-stimulating factor stimulus [GO:0097011]; cellular response to lipopolysaccharide [GO:0071222]; cytokine-mediated signaling pathway [GO:0019221]; dendritic cell differentiation [GO:0097028]; embryonic placenta development [GO:0001892]; epithelial fluid transport [GO:0042045]; histamine secretion [GO:0001821]; immune response [GO:0006955]; macrophage activation [GO:0042116]; MAPK cascade [GO:0000165]; monocyte differentiation [GO:0030224]; myeloid dendritic cell differentiation [GO:0043011]; negative regulation of cytolysis [GO:0045918]; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001240]; negative regulation of transcription, DNA-templated [GO:0045892]; neutrophil differentiation [GO:0030223]; positive regulation of cell proliferation [GO:0008284]; positive regulation of gene expression [GO:0010628]; positive regulation of interleukin-23 production [GO:0032747]; positive regulation of macrophage derived foam cell differentiation [GO:0010744]; positive regulation of podosome assembly [GO:0071803]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; regulation of circadian sleep/wake cycle, sleep [GO:0045187]; regulation of myeloid cell differentiation [GO:0045637]; response to fluid shear stress [GO:0034405]; response to silicon dioxide [GO:0034021]


uniprotID: Q9UKJ5
geneSymbol: CHIC2
name: Cysteine-rich hydrophobic domain-containing protein 2 (BrX-like translocated in leukemia)
length: 165
go: ENSG00000109220;
sequence:
MADFDEIYEEEEDEERALEEQLLKYSPDPVVVRGSGHVTVFGLSNKFESEFPSSLTGKVAPEEFKASINRVNSCLKKNLPVNVRWLLCGCLCCCCTLGCSMWPVICLSKRTRRSIEKLLEWENNRLYHKLCLHWRLSKRKCETNNMMEYVILIEFLPKTPIFRPD

opentargets:
Golgi apparatus [GO:0005794]; Golgi-associated vesicle [GO:0005798]; intracellular membrane-bounded organelle [GO:0043231]; plasma membrane [GO:0005886]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11257495}. Cytoplasmic vesicle {ECO:0000269|PubMed:11257495}. Note=Also present at a Golgi-like vesicular compartment and at scattered vesicles.


uniprotID: P52757
geneSymbol: CHN2
reactome: R-HSA-194840;
pdb: 1XA6;
name: Beta-chimaerin (Beta-chimerin) (Rho GTPase-activating protein 3)
length: 468
go: ENSG00000106069;
snps: rs3750103 rs34971642
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}.
sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; GTPase activator activity [GO:0005096]; metal ion binding [GO:0046872]; SH3/SH2 adaptor activity [GO:0005070]; intracellular signal transduction [GO:0035556]; regulation of small GTPase mediated signal transduction [GO:0051056]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Name=Beta-2; IsoId=P52757-1; Sequence=Displayed; Name=Beta-1; IsoId=P52757-2; Sequence=Not described; Name=3; IsoId=P52757-3; Sequence=VSP_046271, VSP_046272; Note=No experimental confirmation available.; Name=4; Synonyms=B1-CHNdel ex7p; IsoId=P52757-4; Sequence=VSP_047600, VSP_047601; Name=5; Synonyms=B1-CHNdel ex9; IsoId=P52757-5; Sequence=VSP_046271, VSP_046272, VSP_047602; Name=6; Synonyms=B1-CHNdel ex7p,11; IsoId=P52757-6; Sequence=VSP_047600, VSP_047601, VSP_047603; Name=7; IsoId=P52757-7; Sequence=VSP_046271, VSP_046272, VSP_047603; Name=8; IsoId=P52757-8; Sequence=VSP_053323; Name=Beta-3; IsoId=P52757-9; Sequence=VSP_053679; 


uniprotID: Q9UNE7
geneSymbol: STUB1
reactome: R-HSA-2173788;R-HSA-8863795;R-HSA-8939902;R-HSA-8948751;R-HSA-983168;
pdb: 4KBQ;
length: 303
go: ENSG00000103266;
name:
E3 ubiquitin-protein ligase CHIP (EC 2.3.2.27) (Antigen NY-CO-7) (CLL-associated antigen KW-8) (Carboxy terminus of Hsp70-interacting protein) (RING-type E3 ubiquitin transferase CHIP) (STIP1 homology and U box-containing protein 1)

sequence:

opentargets:
chaperone complex [GO:0101031]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; nuclear inclusion body [GO:0042405]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ubiquitin conjugating enzyme complex [GO:0031371]; ubiquitin ligase complex [GO:0000151]; Z disc [GO:0030018]; chaperone binding [GO:0051087]; enzyme binding [GO:0019899]; G protein-coupled receptor binding [GO:0001664]; heat shock protein binding [GO:0031072]; Hsp70 protein binding [GO:0030544]; Hsp90 protein binding [GO:0051879]; kinase binding [GO:0019900]; misfolded protein binding [GO:0051787]; protein binding, bridging [GO:0030674]; protein homodimerization activity [GO:0042803]; SMAD binding [GO:0046332]; TPR domain binding [GO:0030911]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin protein ligase binding [GO:0031625]; ubiquitin-protein transferase activity [GO:0004842]; ubiquitin-ubiquitin ligase activity [GO:0034450]; cellular response to heat [GO:0034605]; cellular response to hypoxia [GO:0071456]; cellular response to misfolded protein [GO:0071218]; DNA repair [GO:0006281]; endoplasmic reticulum unfolded protein response [GO:0030968]; ERBB2 signaling pathway [GO:0038128]; negative regulation of protein binding [GO:0032091]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; positive regulation of chaperone-mediated protein complex assembly [GO:0090035]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; positive regulation of protein ubiquitination [GO:0031398]; positive regulation of ubiquitin-protein transferase activity [GO:0051443]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein autoubiquitination [GO:0051865]; protein K63-linked ubiquitination [GO:0070534]; protein maturation [GO:0051604]; protein polyubiquitination [GO:0000209]; protein quality control for misfolded or incompletely synthesized proteins [GO:0006515]; protein ubiquitination [GO:0016567]; regulation of glucocorticoid metabolic process [GO:0031943]; regulation of protein stability [GO:0031647]; response to ischemia [GO:0002931]; ubiquitin-dependent ERAD pathway [GO:0030433]; ubiquitin-dependent protein catabolic process [GO:0006511]; ubiquitin-dependent SMAD protein catabolic process [GO:0030579]

snps:
rs690016544 rs587777347 rs587777346 rs587777344 rs587777341 rs146251364 rs587777342 rs587777340 rs587777345 rs587777343 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UNE7-1; Sequence=Displayed; Name=2; IsoId=Q9UNE7-2; Sequence=VSP_015947; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10330192, ECO:0000269|PubMed:17369820, ECO:0000269|PubMed:23973223}. Nucleus {ECO:0000269|PubMed:23973223}. Note=Translocates to the nucleus in response to inflammatory signals in regulatory T-cells (Treg). {ECO:0000269|PubMed:23973223}.


uniprotID: Q14406
geneSymbol: CSHL1
name: Chorionic somatomammotropin hormone-like 1 (Chorionic somatomammotropin-like) (Lactogen-like)
length: 222
go: ENSG00000204414;
snps: rs2727307
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:8083227}.
sequence:

opentargets:
extracellular space [GO:0005615]; growth factor activity [GO:0008083]; growth hormone receptor binding [GO:0005131]; hormone activity [GO:0005179]; metal ion binding [GO:0046872]; animal organ development [GO:0048513]; growth hormone receptor signaling pathway [GO:0060396]; positive regulation of growth [GO:0045927]; positive regulation of JAK-STAT cascade [GO:0046427]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; response to nutrient levels [GO:0031667]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q14406-1; Sequence=Displayed; Name=2; IsoId=Q14406-2; Sequence=VSP_040116; Name=3; IsoId=Q14406-3; Sequence=VSP_040115; Name=4; IsoId=Q14406-4; Sequence=VSP_040114; 


uniprotID: Q4G0I0
geneSymbol: CCSMST1
name: Protein CCSMST1
length: 132
go: ENSG00000174109;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:
MNRVLCAPAAGAVRALRLIGWASRSLHPLPGSRDRAHPAAEEEDDPDRPIEFSSSKANPHRWSVGHTMGKGHQRPWWKVLPLSCFLVALIIWCYLREESEADQWLRQVWGEVPEPSDRSEEPETPAAYRART


uniprotID: Q13098
geneSymbol: GPS1
reactome: R-HSA-5696394;R-HSA-6781823;R-HSA-8856825;R-HSA-8951664;
pdb: 4D10;4D18;4WSN;
length: 491
go: ENSG00000169727;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9535219}. Nucleus {ECO:0000269|PubMed:9535219}.
name:
COP9 signalosome complex subunit 1 (SGN1) (Signalosome subunit 1) (G protein pathway suppressor 1) (GPS-1) (JAB1-containing signalosome subunit 1) (Protein MFH)

sequence:

opentargets:
COP9 signalosome [GO:0008180]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; GTPase inhibitor activity [GO:0005095]; inactivation of MAPK activity [GO:0000188]; JNK cascade [GO:0007254]; nucleotide-excision repair, DNA damage recognition [GO:0000715]; post-translational protein modification [GO:0043687]; protein deneddylation [GO:0000338]; transcription-coupled nucleotide-excision repair [GO:0006283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q13098-4; Sequence=Displayed; Name=4; IsoId=Q13098-5; Sequence=VSP_036242; Name=3; IsoId=Q13098-6; Sequence=VSP_036241, VSP_011882; Note=No experimental confirmation available.; Name=2; IsoId=Q13098-7; Sequence=VSP_036240, VSP_036242; 


uniprotID: P61201
geneSymbol: COPS2
reactome: R-HSA-5696394;R-HSA-6781823;R-HSA-8856825;R-HSA-8951664;
pdb: 4D10;4D18;4WSN;
length: 443
go: ENSG00000166200;
name:
COP9 signalosome complex subunit 2 (SGN2) (Signalosome subunit 2) (Alien homolog) (JAB1-containing signalosome subunit 2) (Thyroid receptor-interacting protein 15) (TR-interacting protein 15) (TRIP-15)

sequence:

opentargets:
COP9 signalosome [GO:0008180]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; transcription corepressor activity [GO:0003714]; cell proliferation [GO:0008283]; negative regulation of nucleic acid-templated transcription [GO:1903507]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; neuron differentiation [GO:0030182]; nucleotide-excision repair, DNA damage recognition [GO:0000715]; post-translational protein modification [GO:0043687]; protein deneddylation [GO:0000338]; protein phosphorylation [GO:0006468]; signal transduction [GO:0007165]; skeletal muscle cell differentiation [GO:0035914]; transcription by RNA polymerase II [GO:0006366]; transcription-coupled nucleotide-excision repair [GO:0006283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P61201-1; Sequence=Displayed; Name=2; IsoId=P61201-2; Sequence=VSP_011884; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9535219}. Nucleus {ECO:0000269|PubMed:10207062}.


uniprotID: Q7L5N1
geneSymbol: COPS6
reactome: R-HSA-5696394;R-HSA-6781823;R-HSA-8856825;R-HSA-8951664;
pdb: 4D10;4D18;4QFT;4R14;4WSN;
length: 327
go: ENSG00000168090;
name:
COP9 signalosome complex subunit 6 (SGN6) (Signalosome subunit 6) (JAB1-containing signalosome subunit 6) (MOV34 homolog) (Vpr-interacting protein) (hVIP)

sequence:

opentargets:
COP9 signalosome [GO:0008180]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleotide-excision repair, DNA damage recognition [GO:0000715]; post-translational protein modification [GO:0043687]; protein deneddylation [GO:0000338]; transcription-coupled nucleotide-excision repair [GO:0006283]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=The interaction with HIV-1 Vpr protein possibly leads its translocation to a perinuclear region.


uniprotID: Q9UBW8
geneSymbol: COPS7A
reactome: R-HSA-5696394;R-HSA-6781823;R-HSA-8856825;R-HSA-8951664;
pdb: 4D10;4D18;4WSN;
length: 275
go: ENSG00000111652;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9535219}. Nucleus {ECO:0000269|PubMed:9535219}.
name:
COP9 signalosome complex subunit 7a (SGN7a) (Signalosome subunit 7a) (Dermal papilla-derived protein 10) (JAB1-containing signalosome subunit 7a)

sequence:

opentargets:
COP9 signalosome [GO:0008180]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleotide-excision repair, DNA damage recognition [GO:0000715]; post-translational protein modification [GO:0043687]; protein deneddylation [GO:0000338]; transcription-coupled nucleotide-excision repair [GO:0006283]; viral process [GO:0016032]


uniprotID: Q9H9Q2
geneSymbol: COPS7B
reactome: R-HSA-5696394;R-HSA-6781823;R-HSA-8856825;R-HSA-8951664;
length: 264
go: ENSG00000144524;
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
name:
COP9 signalosome complex subunit 7b (SGN7b) (Signalosome subunit 7b) (JAB1-containing signalosome subunit 7b)

sequence:

opentargets:
COP9 signalosome [GO:0008180]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleotide-excision repair, DNA damage recognition [GO:0000715]; post-translational protein modification [GO:0043687]; protein deneddylation [GO:0000338]; transcription-coupled nucleotide-excision repair [GO:0006283]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H9Q2-1; Sequence=Displayed; Name=2; IsoId=Q9H9Q2-2; Sequence=VSP_011913; Note=No experimental confirmation available.; Name=3; IsoId=Q9H9Q2-3; Sequence=VSP_040266; 


uniprotID: Q99627
geneSymbol: COPS8
reactome: R-HSA-5696394;R-HSA-6781823;R-HSA-8856825;R-HSA-8951664;
pdb: 4D10;4D18;4WSN;
length: 209
go: ENSG00000198612;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9535219}. Nucleus {ECO:0000269|PubMed:9535219}.
name:
COP9 signalosome complex subunit 8 (SGN8) (Signalosome subunit 8) (COP9 homolog) (hCOP9) (JAB1-containing signalosome subunit 8)

sequence:

opentargets:
COP9 signalosome [GO:0008180]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; activation of NF-kappaB-inducing kinase activity [GO:0007250]; COP9 signalosome assembly [GO:0010387]; negative regulation of cell proliferation [GO:0008285]; nucleotide-excision repair, DNA damage recognition [GO:0000715]; post-translational protein modification [GO:0043687]; protein deneddylation [GO:0000338]; protein phosphorylation [GO:0006468]; transcription-coupled nucleotide-excision repair [GO:0006283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q99627-1; Sequence=Displayed; Name=2; IsoId=Q99627-2; Sequence=VSP_042715; Note=No experimental confirmation available.; 


uniprotID: Q8WXC6
geneSymbol: COPS9
sequence: MKPAVDEMFPEGAGPYVDLDEAGGSTGLLMDLAANEKAVHADFFNDFEDLFDDDDIQ
length: 57
go: ENSG00000172428;
name:
COP9 signalosome complex subunit 9 (CSN acidic protein) (CSNAP) (Myeloma-overexpressed gene 2 protein)

opentargets:
COP9 signalosome [GO:0008180]; cytoplasm [GO:0005737]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cellular response to UV [GO:0034644]; cytoplasmic sequestering of protein [GO:0051220]; negative regulation of protein neddylation [GO:2000435]; positive regulation of cell proliferation [GO:0008284]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=CSNAP {ECO:0000303|PubMed:26456823}; IsoId=Q8WXC6-2; Sequence=Displayed; Name=2; Synonyms=MYEOV2-L {ECO:0000303|Ref.1}; IsoId=Q8WXC6-1; Sequence=VSP_037073, VSP_037074, VSP_037075; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Nucleus {ECO:0000269|PubMed:26456823}. Cytoplasm {ECO:0000269|PubMed:26456823}. Nucleus, nucleoplasm {ECO:0000269|PubMed:26456823}. Note=Excluded from the nucleolus. Recruited to the nucleoplasm and chromatin following DNA damage induction. {ECO:0000269|PubMed:26456823}.; SUBCELLULAR LOCATION: Isoform 2: Nucleus, nucleoplasm {ECO:0000269|PubMed:23776465}. Note=Excluded from the nucleolus. {ECO:0000269|PubMed:23776465}.


uniprotID: P13611
geneSymbol: VCAN
length: 3396
go: ENSG00000038427;
drug: DB08818;
snps: rs2652098 rs2287926 rs309559 rs188703 rs160278 rs3734094 rs160277 rs16900532
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
reactome:
R-HSA-1971475;R-HSA-2022870;R-HSA-2022923;R-HSA-2024101;R-HSA-3000178;R-HSA-3560783;R-HSA-3560801;R-HSA-3595172;R-HSA-3595174;R-HSA-3595177;R-HSA-381426;R-HSA-4420332;R-HSA-8957275;

name:
Versican core protein (Chondroitin sulfate proteoglycan core protein 2) (Chondroitin sulfate proteoglycan 2) (Glial hyaluronate-binding protein) (GHAP) (Large fibroblast proteoglycan) (PG-M)

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi lumen [GO:0005796]; lysosomal lumen [GO:0043202]; membrane [GO:0016020]; calcium ion binding [GO:0005509]; carbohydrate binding [GO:0030246]; extracellular matrix structural constituent conferring compression resistance [GO:0030021]; glycosaminoglycan binding [GO:0005539]; hyaluronic acid binding [GO:0005540]; cell adhesion [GO:0007155]; cell recognition [GO:0008037]; cellular protein metabolic process [GO:0044267]; central nervous system development [GO:0007417]; chondroitin sulfate biosynthetic process [GO:0030206]; chondroitin sulfate catabolic process [GO:0030207]; dermatan sulfate biosynthetic process [GO:0030208]; extracellular matrix organization [GO:0030198]; glial cell migration [GO:0008347]; multicellular organism development [GO:0007275]; osteoblast differentiation [GO:0001649]; post-translational protein modification [GO:0043687]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Additional isoforms seem to exist.; Name=V0; IsoId=P13611-1; Sequence=Displayed; Name=V1; IsoId=P13611-2; Sequence=VSP_003082, VSP_003083; Name=V2; IsoId=P13611-3; Sequence=VSP_003084; Name=V3; IsoId=P13611-4; Sequence=VSP_003082, VSP_003085; Name=Vint; IsoId=P13611-5; Sequence=VSP_003086; 


uniprotID: Q6UVK1
geneSymbol: CSPG4
length: 2322
go: ENSG00000173546;
snps: rs8023621
reactome:
R-HSA-1971475;R-HSA-2022870;R-HSA-2022923;R-HSA-2024101;R-HSA-3560783;R-HSA-3560801;R-HSA-3595172;R-HSA-3595174;R-HSA-3595177;R-HSA-4420332;

name:
Chondroitin sulfate proteoglycan 4 (Chondroitin sulfate proteoglycan NG2) (Melanoma chondroitin sulfate proteoglycan) (Melanoma-associated chondroitin sulfate proteoglycan)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; cell surface [GO:0009986]; collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; focal adhesion [GO:0005925]; Golgi lumen [GO:0005796]; integral component of plasma membrane [GO:0005887]; lamellipodium membrane [GO:0031258]; lysosomal lumen [GO:0043202]; protein kinase binding [GO:0019901]; activation of MAPK activity [GO:0000187]; angiogenesis [GO:0001525]; cell proliferation [GO:0008283]; chondroitin sulfate biosynthetic process [GO:0030206]; chondroitin sulfate catabolic process [GO:0030207]; dermatan sulfate biosynthetic process [GO:0030208]; glial cell migration [GO:0008347]; intracellular signal transduction [GO:0035556]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; tissue remodeling [GO:0048771]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q00657}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q00657}; Extracellular side {ECO:0000250|UniProtKB:Q00657}. Apical cell membrane {ECO:0000250|UniProtKB:Q00657}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q00657}; Extracellular side {ECO:0000250|UniProtKB:Q00657}. Cell projection, lamellipodium membrane {ECO:0000250|UniProtKB:Q00657}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q00657}; Extracellular side {ECO:0000250|UniProtKB:Q00657}. Cell surface {ECO:0000250|UniProtKB:Q00657}. Note=Localized at the apical plasma membrane it relocalizes to the lamellipodia of astrocytoma upon phosphorylation by PRKCA. Localizes to the retraction fibers. Localizes to the plasma membrane of oligodendrocytes (By similarity). {ECO:0000250|UniProtKB:Q00657, ECO:0000250|UniProtKB:Q8VHY0}.


uniprotID: O95196
geneSymbol: CSPG5
length: 566
go: ENSG00000114646;
snps: rs3732530 rs34016925
reactome:
R-HSA-1971475;R-HSA-2022870;R-HSA-2022923;R-HSA-2024101;R-HSA-3560783;R-HSA-3560801;R-HSA-3595172;R-HSA-3595174;R-HSA-3595177;R-HSA-4420332;

name:
Chondroitin sulfate proteoglycan 5 (Acidic leucine-rich EGF-like domain-containing brain protein) (Neuroglycan C)

sequence:

opentargets:
cell surface [GO:0009986]; endoplasmic reticulum membrane [GO:0005789]; extracellular region [GO:0005576]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; Golgi apparatus [GO:0005794]; Golgi lumen [GO:0005796]; Golgi membrane [GO:0000139]; Golgi-associated vesicle membrane [GO:0030660]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic membrane [GO:0099055]; lysosomal lumen [GO:0043202]; membrane [GO:0016020]; growth factor activity [GO:0008083]; cell differentiation [GO:0030154]; chondroitin sulfate biosynthetic process [GO:0030206]; chondroitin sulfate catabolic process [GO:0030207]; dermatan sulfate biosynthetic process [GO:0030208]; intracellular transport [GO:0046907]; nervous system development [GO:0007399]; regulation of growth [GO:0040008]; regulation of synaptic vesicle exocytosis [GO:2000300]; trans-synaptic signaling, modulating synaptic transmission [GO:0099550]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O95196-1; Sequence=Displayed; Name=2; Synonyms=CSPG5-I; IsoId=O95196-2; Sequence=VSP_015761; Name=3; Synonyms=CSPG5-II; IsoId=O95196-3; Sequence=VSP_015760, VSP_015761; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q9ERQ6}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q9ERQ6}. Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q71M36}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q71M36}. Golgi apparatus membrane {ECO:0000250|UniProtKB:Q71M36}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q71M36}. Cell surface {ECO:0000250|UniProtKB:Q71M36}. Note=In neurons, localizes to synaptic junctions. Also detected in the endoplasmic reticulum and the Golgi. Partially enriched in lipid rafts. {ECO:0000250|UniProtKB:Q71M36, ECO:0000250|UniProtKB:Q9ERQ6}.


uniprotID: Q1MSJ5
geneSymbol: CSPP1
name: Centrosome and spindle pole-associated protein 1
length: 1256
go: ENSG00000104218;
snps: rs16933182 rs1808140
sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; microtubule [GO:0005874]; spindle [GO:0005819]; spindle pole [GO:0000922]; positive regulation of cell division [GO:0051781]; positive regulation of cytokinesis [GO:0032467]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=3; IsoId=Q1MSJ5-3; Sequence=Displayed; Note=No experimental confirmation available. {ECO:0000305}; Name=1; Synonyms=CSPP-L; IsoId=Q1MSJ5-1; Sequence=VSP_040072; Name=2; Synonyms=CSPP, CSPP-S; IsoId=Q1MSJ5-2; Sequence=VSP_026475, VSP_026476; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole {ECO:0000250}. Note=Associated with mitotic spindles.


uniprotID: Q9H8E8
geneSymbol: KAT14
reactome: R-HSA-3214847;
length: 782
go: ENSG00000149474;
snps: rs6081011 rs1205193 rs2295182 rs11557577 rs6081027
location: SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Mainly nuclear.
name:
Cysteine-rich protein 2-binding protein (CSRP2-binding protein) (ADA2A-containing complex subunit 2) (ATAC2) (CRP2-binding partner) (CRP2BP) (Lysine acetyltransferase 14)

sequence:

opentargets:
Ada2/Gcn5/Ada3 transcription activator complex [GO:0005671]; cytoplasm [GO:0005737]; nucleus [GO:0005634]; histone acetyltransferase activity [GO:0004402]; LIM domain binding [GO:0030274]; G2/M transition of mitotic cell cycle [GO:0000086]; histone acetylation [GO:0016573]; histone H3 acetylation [GO:0043966]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H8E8-1; Sequence=Displayed; Name=2; IsoId=Q9H8E8-2; Sequence=VSP_000070; Note=May be due to an intron retention.; 


uniprotID: Q96S65
geneSymbol: CSRNP1
length: 589
go: ENSG00000144655;
snps: rs1274958
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
Cysteine/serine-rich nuclear protein 1 (CSRNP-1) (Axin-1 up-regulated gene 1 protein) (Protein URAX1) (TGF-beta-induced apoptosis protein 3) (TAIP-3)

sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; apoptotic process [GO:0006915]; face morphogenesis [GO:0060325]; platelet-derived growth factor receptor signaling pathway [GO:0048008]; positive regulation of transcription by RNA polymerase II [GO:0045944]; post-embryonic development [GO:0009791]; roof of mouth development [GO:0060021]; skeletal system morphogenesis [GO:0048705]


uniprotID: Q9H175
geneSymbol: CSRNP2
length: 543
go: ENSG00000110925;
snps: rs11542510
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
Cysteine/serine-rich nuclear protein 2 (CSRNP-2) (Protein FAM130A1) (TGF-beta-induced apoptosis protein 12) (TAIP-12)

sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; phosphatase binding [GO:0019902]; sequence-specific DNA binding [GO:0043565]; apoptotic process [GO:0006915]; negative regulation of phosphatase activity [GO:0010923]; positive regulation of transcription by RNA polymerase II [GO:0045944]


uniprotID: Q8WYN3
geneSymbol: CSRNP3
length: 585
go: ENSG00000178662;
snps: rs766623860
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
Cysteine/serine-rich nuclear protein 3 (CSRNP-3) (Protein FAM130A2) (TGF-beta-induced apoptosis protein 2) (TAIP-2)

sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; apoptotic process [GO:0006915]; negative regulation of phosphatase activity [GO:0010923]; positive regulation of apoptotic process [GO:0043065]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WYN3-1; Sequence=Displayed; Name=2; IsoId=Q8WYN3-2; Sequence=VSP_034258, VSP_034259; Note=No experimental confirmation available.; 


uniprotID: P21291
geneSymbol: CSRP1
reactome: R-HSA-5660489;
length: 193
go: ENSG00000159176;
snps: rs3738283
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26924529}.
name:
Cysteine and glycine-rich protein 1 (Cysteine-rich protein 1) (CRP) (CRP1) (Epididymis luminal protein 141) (HEL-141)

sequence:
MPNWGGGKKCGVCQKTVYFAEEVQCEGNSFHKSCFLCMVCKKNLDSTTVAVHGEEIYCKSCYGKKYGPKGYGYGQGAGTLSTDKGESLGIKHEEAPGHRPTTNPNASKFAQKIGGSERCPRCSQAVYAAEKVIGAGKSWHKACFRCAKCGKGLESTTLADKDGEIYCKGCYAKNFGPKGFGFGQGAGALVHSE

opentargets:
extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; nucleus [GO:0005634]; RNA binding [GO:0003723]; zinc ion binding [GO:0008270]; platelet aggregation [GO:0070527]


uniprotID: Q16527
geneSymbol: CSRP2
length: 193
go: ENSG00000175183;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
Cysteine and glycine-rich protein 2 (Cysteine-rich protein 2) (CRP2) (LIM domain only protein 5) (LMO-5) (Smooth muscle cell LIM protein) (SmLIM)

sequence:
MPVWGGGNKCGACGRTVYHAEEVQCDGRSFHRCCFLCMVCRKNLDSTTVAIHDEEIYCKSCYGKKYGPKGYGYGQGAGTLNMDRGERLGIKPESVQPHRPTTNPNTSKFAQKYGGAEKCSRCGDSVYAAEKIIGAGKPWHKNCFRCAKCGKSLESTTLTEKEGEIYCKGCYAKNFGPKGFGYGQGAGALVHAQ

opentargets:
focal adhesion [GO:0005925]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; cell differentiation [GO:0030154]; multicellular organism development [GO:0007275]


uniprotID: P50461
geneSymbol: CSRP3
pdb: 2O10;2O13;
length: 194
go: ENSG00000129170;
snps: rs45550635 rs104894205 rs281865416 rs104894204 rs45552933
name:
Cysteine and glycine-rich protein 3 (Cardiac LIM protein) (Cysteine-rich protein 3) (CRP3) (LIM domain protein, cardiac) (Muscle LIM protein)

sequence:
MPNWGGGAKCGACEKTVYHAEEIQCNGRSFHKTCFHCMACRKALDSTTVAAHESEIYCKVCYGRRYGPKGIGYGQGAGCLSTDTGEHLGLQFQQSPKPARSVTTSNPSKFTAKFGESEKCPRCGKSVYAAEKVMGGGKPWHKTCFRCAICGKSLESTNVTDKDGELYCKVCYAKNFGPTGIGFGGLTQQVEKKE

opentargets:
cytoskeleton [GO:0005856]; nucleus [GO:0005634]; Z disc [GO:0030018]; actin binding [GO:0003779]; actinin binding [GO:0042805]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; structural constituent of muscle [GO:0008307]; telethonin binding [GO:0031433]; cardiac muscle contraction [GO:0060048]; cardiac muscle hypertrophy [GO:0003300]; cardiac muscle tissue development [GO:0048738]; cardiac myofibril assembly [GO:0055003]; cellular calcium ion homeostasis [GO:0006874]; detection of muscle stretch [GO:0035995]; negative regulation of actin filament severing [GO:1903919]; negative regulation of myoblast differentiation [GO:0045662]; positive regulation of actin filament severing [GO:1903920]; positive regulation of myoblast differentiation [GO:0045663]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein localization to organelle [GO:0033365]; regulation of the force of heart contraction [GO:0002026]; skeletal muscle tissue development [GO:0007519]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=MLP-a; IsoId=P50461-1; Sequence=Displayed; Name=2; Synonyms=MLP-b; IsoId=P50461-2; Sequence=VSP_058575, VSP_058576; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P50463}. Cytoplasm {ECO:0000269|PubMed:18505755}. Cytoplasm, cytoskeleton {ECO:0000305}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed:24860983}. Cytoplasm, myofibril, sarcomere {ECO:0000269|PubMed:24934443}. Note=Nucleocytoplasmic shuttling protein. Mainly cytoplasmic. In the Z line, found associated with GLRX3 (By similarity). {ECO:0000250|UniProtKB:P50462, ECO:0000250|UniProtKB:P50463}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed:24860983}.


uniprotID: Q12887
geneSymbol: COX10
reactome: R-HSA-189451;
name: Protoheme IX farnesyltransferase, mitochondrial (EC 2.5.1.141) (Heme O synthase)
length: 443
go: ENSG00000006695;
location: SUBCELLULAR LOCATION: Mitochondrion membrane; Multi-pass membrane protein.
sequence:

opentargets:
cytochrome complex [GO:0070069]; cytosol [GO:0005829]; integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; farnesyltranstransferase activity [GO:0004311]; protoheme IX farnesyltransferase activity [GO:0008495]; cellular respiration [GO:0045333]; heme a biosynthetic process [GO:0006784]; heme biosynthetic process [GO:0006783]; heme O biosynthetic process [GO:0048034]; mitochondrial electron transport, cytochrome c to oxygen [GO:0006123]; mitochondrial fission [GO:0000266]; proton transmembrane transport [GO:1902600]; respiratory chain complex IV assembly [GO:0008535]

snps:
rs16948978 rs2230351 rs16948986 rs2072279 rs104894555 rs104894560 rs104894556 rs587780911 rs753048807 rs104894557 rs104894557 rs1050214 rs773079584 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q12887-1; Sequence=Displayed; Name=2; IsoId=Q12887-2; Sequence=VSP_056867, VSP_056868; Note=No experimental confirmation available.; 


uniprotID: Q8N8Q8
geneSymbol: COX18
reactome: R-HSA-5628897;R-HSA-611105;
length: 333
go: ENSG00000163626;
name:
Cytochrome c oxidase assembly protein COX18, mitochondrial (COX18Hs) (Cytochrome c oxidase assembly protein 18)

sequence:

opentargets:
integral component of mitochondrial inner membrane [GO:0031305]; membrane insertase activity [GO:0032977]; protein transporter activity [GO:0008565]; mitochondrial respiratory chain complex IV assembly [GO:0033617]; protein insertion into mitochondrial inner membrane from matrix side [GO:0032979]; protein insertion into mitochondrial membrane [GO:0051204]; respiratory chain complex IV assembly [GO:0008535]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Hs1; IsoId=Q8N8Q8-1; Sequence=Displayed; Name=2; Synonyms=Hs2; IsoId=Q8N8Q8-2; Sequence=VSP_022312, VSP_022314; Name=3; Synonyms=Hs3; IsoId=Q8N8Q8-3; Sequence=VSP_022311, VSP_022315; Name=4; IsoId=Q8N8Q8-4; Sequence=VSP_022313, VSP_022316; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:16212937, ECO:0000269|PubMed:28330871}; Multi-pass membrane protein {ECO:0000269|PubMed:16212937}.


uniprotID: P00403
geneSymbol: MT-CO2
reactome: R-HSA-5628897;R-HSA-611105;
pdb: 3VRJ;
name: Cytochrome c oxidase subunit 2 (Cytochrome c oxidase polypeptide II)
length: 227
go: ENSG00000198712;
drug: DB02659;DB04464;DB05412;
snps: rs199474827 rs199474826 rs1116904
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex IV [GO:0005751]; mitochondrion [GO:0005739]; respiratory chain complex IV [GO:0045277]; copper ion binding [GO:0005507]; cytochrome-c oxidase activity [GO:0004129]; ATP synthesis coupled electron transport [GO:0042773]; lactation [GO:0007595]; mitochondrial electron transport, cytochrome c to oxygen [GO:0006123]; positive regulation of ATP biosynthetic process [GO:2001171]; positive regulation of hydrogen peroxide biosynthetic process [GO:0010729]; positive regulation of necrotic cell death [GO:0010940]; response to cold [GO:0009409]


uniprotID: Q9NX08
geneSymbol: COMMD8
reactome: R-HSA-8951664;
name: COMM domain-containing protein 8
length: 183
go: ENSG00000169019;
opentargets: cytosol [GO:0005829]; nucleoplasm [GO:0005654]
snps: rs35444219
sequence:
MEPEEGTPLWRLQKLPAELGPQLLHKIIDGICGRAYPVYQDYHTVWESEEWMHVLEDIAKFFKAIVGKNLPDEEIFQQLNQLNSLHQETIMKCVKSRKDEIKQALSREIVAISSAQLQDFDWQVKLALSSDKIAALRMPLLSLHLDVKENGEVKPYSIEMSREELQNLIQSLEAANKVVLQLK


uniprotID: Q13057
geneSymbol: COASY
reactome: R-HSA-196783;
length: 564
go: ENSG00000068120;
snps: rs615942 rs140709867
name:
Bifunctional coenzyme A synthase (CoA synthase) (NBP) (POV-2) [Includes: Phosphopantetheine adenylyltransferase (EC 2.7.7.3) (Dephospho-CoA pyrophosphorylase) (Pantetheine-phosphate adenylyltransferase) (PPAT); Dephospho-CoA kinase (DPCK) (EC 2.7.1.24) (Dephosphocoenzyme A kinase) (DPCOAK)]

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; mitochondrial matrix [GO:0005759]; mitochondrial outer membrane [GO:0005741]; nucleoplasm [GO:0005654]; ATP binding [GO:0005524]; dephospho-CoA kinase activity [GO:0004140]; pantetheine-phosphate adenylyltransferase activity [GO:0004595]; coenzyme A biosynthetic process [GO:0015937]; coenzyme biosynthetic process [GO:0009108]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=CoASy alpha; IsoId=Q13057-1; Sequence=Displayed; Name=2; Synonyms=CoASy beta; IsoId=Q13057-2; Sequence=VSP_036404; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Mitochondrion matrix {ECO:0000269|PubMed:24360804}. Note=The protein is mainly present in the mitochondrial matrix, probably anchored to the inner mitochondrial membrane, but is also present in cell lysate.


uniprotID: A2RUU4
geneSymbol: CLPSL1
name: Colipase-like protein 1
length: 121
go: ENSG00000204140;
snps: rs34109614
location: SUBCELLULAR LOCATION: Secreted {ECO:0000255|PROSITE-ProRule:PRU00674}.
sequence:
MMLPQWLLLLFLLFFFLFLLTRGSLSPTKYNLLELKESCIRNQDCETGCCQRAPDNCESHCAEKGSEGSLCQTQVFFGQYRACPCLRNLTCIYSKNEKWLSIAYGRCQKIGRQKLAKKMFF

opentargets:
extracellular region [GO:0005576]; enzyme activator activity [GO:0008047]; digestion [GO:0007586]; lipid catabolic process [GO:0016042]; response to food [GO:0032094]


uniprotID: Q99715
geneSymbol: COL12A1
reactome: R-HSA-1442490;R-HSA-1650814;R-HSA-2022090;R-HSA-8948216;
name: Collagen alpha-1(XII) chain
length: 3063
go: ENSG00000111799;
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
sequence:

opentargets:
collagen type XII trimer [GO:0005595]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extracellular vesicle [GO:1903561]; extracellular matrix structural constituent conferring tensile strength [GO:0030020]; cell adhesion [GO:0007155]; collagen fibril organization [GO:0030199]; endodermal cell differentiation [GO:0035987]; growth plate cartilage chondrocyte morphogenesis [GO:0003429]; skeletal system development [GO:0001501]

snps:
rs34730529 rs240736 rs200487396 rs34438461 rs35523808 rs796052093 rs35710072 rs796052094 rs57396313 rs970547 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=The final tissue form of collagen XII may contain homotrimers of either isoform 1 or isoform 2 or any combination of isoform 1 and isoform 2.; Name=1; Synonyms=Long; IsoId=Q99715-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q99715-2; Sequence=VSP_001149; Name=4; IsoId=Q99715-4; Sequence=VSP_024942; 


uniprotID: Q9Y2V7
geneSymbol: COG6
reactome: R-HSA-6807878;R-HSA-6811438;R-HSA-6811440;
length: 657
go: ENSG00000133103;
snps: rs3812882 rs3812883 rs34555836 rs41286961 rs387906959
name:
Conserved oligomeric Golgi complex subunit 6 (COG complex subunit 6) (Component of oligomeric Golgi complex 6)

sequence:

opentargets:
Golgi membrane [GO:0000139]; Golgi transport complex [GO:0017119]; trans-Golgi network membrane [GO:0032588]; ER to Golgi vesicle-mediated transport [GO:0006888]; glycosylation [GO:0070085]; intra-Golgi vesicle-mediated transport [GO:0006891]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y2V7-1; Sequence=Displayed; Name=2; IsoId=Q9Y2V7-2; Sequence=VSP_001131, VSP_001132; Note=No experimental confirmation available.; Name=4; IsoId=Q9Y2V7-4; Sequence=VSP_040375, VSP_040376; 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: Golgi apparatus membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.


uniprotID: Q96H96
geneSymbol: COQ2
reactome: R-HSA-1268020;R-HSA-2142789;
length: 371
snps: rs6818847
name:
4-hydroxybenzoate polyprenyltransferase, mitochondrial (4-HB polyprenyltransferase) (EC 2.5.1.39) (4-hydroxybenzoate decaprenyltransferase) (COQ2 homolog) (hCOQ2) (Para-hydroxybenzoate--polyprenyltransferase) (PHB:PPT) (PHB:polyprenyltransferase)

sequence:

opentargets:
integral component of mitochondrial inner membrane [GO:0031305]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; 4-hydroxybenzoate decaprenyltransferase activity [GO:0002083]; 4-hydroxybenzoate nonaprenyltransferase activity [GO:0047293]; transferase activity, transferring alkyl or aryl (other than methyl) groups [GO:0016765]; glycerol metabolic process [GO:0006071]; isoprenoid biosynthetic process [GO:0008299]; ubiquinone biosynthetic process [GO:0006744]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96H96-1; Sequence=Displayed; Name=3; IsoId=Q96H96-3; Sequence=VSP_017677, VSP_017678; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000255|HAMAP-Rule:MF_03189, ECO:0000269|PubMed:27493029}; Multi-pass membrane protein {ECO:0000255|HAMAP-Rule:MF_03189}; Matrix side {ECO:0000255|HAMAP-Rule:MF_03189}.


uniprotID: Q96A83
geneSymbol: COL26A1
reactome: R-HSA-1442490;R-HSA-1650814;R-HSA-8948216;
pdb: 4AU2;4AU3;4BJ3;
length: 441
go: ENSG00000160963;
snps: rs17471501
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
name:
Collagen alpha-1(XXVI) chain (Alpha-1 type XXVI collagen) (EMI domain-containing protein 2) (Emilin and multimerin domain-containing protein 2) (Emu2)

sequence:

opentargets:
collagen trimer [GO:0005581]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; Golgi apparatus [GO:0005794]; plasma membrane [GO:0005886]; positive regulation of cell-substrate adhesion [GO:0010811]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96A83-1; Sequence=Displayed; Name=2; IsoId=Q96A83-2; Sequence=VSP_008447; Note=May be due to a competing acceptor splice site.; 


uniprotID: Q9Y3A0
geneSymbol: COQ4
length: 265
go: ENSG00000167113;
snps: rs9697215 rs3003601 rs786204770 rs766317663 rs774395996 rs143441644
name:
Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial (Coenzyme Q biosynthesis protein 4 homolog)

sequence:

opentargets:
extrinsic component of mitochondrial inner membrane [GO:0031314]; mitochondrion [GO:0005739]; protein-containing complex [GO:0032991]; ubiquinone biosynthetic process [GO:0006744]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y3A0-1; Sequence=Displayed; Name=2; IsoId=Q9Y3A0-2; Sequence=VSP_036866; 

location:
SUBCELLULAR LOCATION: Isoform 1: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.


uniprotID: Q96JB2
geneSymbol: COG3
reactome: R-HSA-6807878;R-HSA-6811438;R-HSA-6811440;
length: 828
go: ENSG00000136152;
snps: rs747042102 rs2274285
name:
Conserved oligomeric Golgi complex subunit 3 (COG complex subunit 3) (Component of oligomeric Golgi complex 3) (Vesicle-docking protein SEC34 homolog) (p94)

sequence:

opentargets:
cis-Golgi network [GO:0005801]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; Golgi cisterna membrane [GO:0032580]; Golgi membrane [GO:0000139]; Golgi transport complex [GO:0017119]; plasma membrane [GO:0005886]; trans-Golgi network membrane [GO:0032588]; protein transporter activity [GO:0008565]; ER to Golgi vesicle-mediated transport [GO:0006888]; Golgi organization [GO:0007030]; intra-Golgi vesicle-mediated transport [GO:0006891]; intracellular protein transport [GO:0006886]; protein glycosylation [GO:0006486]; protein localization to organelle [GO:0033365]; protein stabilization [GO:0050821]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96JB2-1; Sequence=Displayed; Name=2; IsoId=Q96JB2-2; Sequence=VSP_013652, VSP_013653; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane {ECO:0000269|PubMed:11292827}; Peripheral membrane protein {ECO:0000269|PubMed:11292827}. Note=Associated with the peripheral membrane of cis/medial cisternae.


uniprotID: Q9BQW3
geneSymbol: EBF4
name: Transcription factor COE4 (Early B-cell factor 4) (EBF-4) (Olf-1/EBF-like 4) (O/E-4) (OE-4)
length: 602
go: ENSG00000088881;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
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]; protein dimerization activity [GO:0046983]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; multicellular organism development [GO:0007275]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2; IsoId=Q9BQW3-2; Sequence=Displayed; Name=1; IsoId=Q9BQW3-1; Sequence=VSP_026469, VSP_026470; Note=No experimental confirmation available.; 


uniprotID: Q9BXS0
geneSymbol: COL25A1
reactome: R-HSA-1442490;R-HSA-1650814;R-HSA-8948216;
length: 654
go: ENSG00000188517;
snps: rs780209390
name:
Collagen alpha-1(XXV) chain (Alzheimer disease amyloid-associated protein) (AMY) (CLAC-P) [Cleaved into: Collagen-like Alzheimer amyloid plaque component (CLAC)]

sequence:

opentargets:
collagen trimer [GO:0005581]; endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; amyloid-beta binding [GO:0001540]; extracellular matrix structural constituent [GO:0005201]; heparin binding [GO:0008201]; axonogenesis involved in innervation [GO:0060385]; extracellular matrix organization [GO:0030198]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1 {ECO:0000269|PubMed:11927537}; IsoId=Q9BXS0-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:11927537}; IsoId=Q9BXS0-2; Sequence=VSP_052200; Name=3 {ECO:0000269|PubMed:14656069}; IsoId=Q9BXS0-3; Sequence=VSP_052197, VSP_052198, VSP_052199; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}. Note=After proteolytic cleavage, CLAC is secreted.


uniprotID: P01189
geneSymbol: POMC
pdb: 4XNH;4XPD;4Y49;
length: 267
go: ENSG00000115138;
drug: DB01565;DB01497;DB00836;
snps: rs139750421 rs28932471 rs750136455 rs8192606 rs80326661 rs28932472
reactome:
R-HSA-111885;R-HSA-193048;R-HSA-194002;R-HSA-202040;R-HSA-209952;R-HSA-211976;R-HSA-375276;R-HSA-418555;R-HSA-418594;R-HSA-5579031;R-HSA-6785807;

name:
Pro-opiomelanocortin (POMC) (Corticotropin-lipotropin) [Cleaved into: NPP; Melanotropin gamma (Gamma-MSH); Potential peptide; Corticotropin (Adrenocorticotropic hormone) (ACTH); Melanocyte-stimulating hormone alpha (Alpha-MSH) (Melanotropin alpha); Corticotropin-like intermediary peptide (CLIP); Lipotropin beta (Beta-LPH); Lipotropin gamma (Gamma-LPH); Melanocyte-stimulating hormone beta (Beta-MSH) (Melanotropin beta); Beta-endorphin; Met-enkephalin]

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; peroxisomal matrix [GO:0005782]; secretory granule [GO:0030141]; secretory granule lumen [GO:0034774]; G protein-coupled receptor binding [GO:0001664]; hormone activity [GO:0005179]; signaling receptor binding [GO:0005102]; type 1 melanocortin receptor binding [GO:0070996]; type 3 melanocortin receptor binding [GO:0031781]; type 4 melanocortin receptor binding [GO:0031782]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; cell-cell signaling [GO:0007267]; cellular pigmentation [GO:0033059]; cytokine-mediated signaling pathway [GO:0019221]; G protein-coupled receptor signaling pathway [GO:0007186]; generation of precursor metabolites and energy [GO:0006091]; glucose homeostasis [GO:0042593]; killing of cells of other organism [GO:0031640]; modification of morphology or physiology of other organism [GO:0035821]; negative regulation of tumor necrosis factor production [GO:0032720]; neuropeptide signaling pathway [GO:0007218]; positive regulation of neutrophil mediated killing of fungus [GO:0070965]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of appetite [GO:0032098]; regulation of blood pressure [GO:0008217]; regulation of corticosterone secretion [GO:2000852]; regulation of glycogen metabolic process [GO:0070873]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:P01193}. Note=Melanocyte-stimulating hormone alpha and beta-endorphin are stored in separate granules in hypothalamic POMC neurons, suggesting that secretion may be under the control of different regulatory mechanisms. {ECO:0000250|UniProtKB:P01193}.


uniprotID: Q49B96
geneSymbol: COX19
reactome: R-HSA-1268020;
name: Cytochrome c oxidase assembly protein COX19 (hCOX19)
sequence: MSTAMNFGTKSFQPRPPDKGSFPLDHLGECKSFKEKFMKCLHNNNFENALCRKESKEYLECRMERKLMLQEPLEKLGFGDLTSGKSEAKK
length: 90
go: ENSG00000240230;
opentargets:
cytosol [GO:0005829]; mitochondrial intermembrane space [GO:0005758]; mitochondrion [GO:0005739]; cellular copper ion homeostasis [GO:0006878]; mitochondrial respiratory chain complex IV assembly [GO:0033617]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:16212937, ECO:0000269|PubMed:23345593, ECO:0000269|PubMed:23676665}. Mitochondrion intermembrane space {ECO:0000269|PubMed:23345593, ECO:0000269|PubMed:23676665}. Mitochondrion {ECO:0000269|PubMed:23345593, ECO:0000269|PubMed:23676665}. Note=Partitions between mitochondria and the cytosol in a copper-dependent manner. Enriched in the cytosol when intracellular copper concentrations are elevated. {ECO:0000269|PubMed:23345593}.


uniprotID: Q7KZN9
geneSymbol: COX15
reactome: R-HSA-189451;
name: Cytochrome c oxidase assembly protein COX15 homolog
length: 410
go: ENSG00000014919;
snps: rs28939711 rs397514662
sequence:

opentargets:
cytochrome complex [GO:0070069]; integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain [GO:0005746]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; cytochrome-c oxidase activity [GO:0004129]; oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor [GO:0016653]; oxidoreductase activity, acting on the CH-CH group of donors [GO:0016627]; cellular respiration [GO:0045333]; heme a biosynthetic process [GO:0006784]; heme biosynthetic process [GO:0006783]; mitochondrial electron transport, cytochrome c to oxygen [GO:0006123]; oxidation-reduction process [GO:0055114]; proton transmembrane transport [GO:1902600]; respiratory chain complex IV assembly [GO:0008535]; respiratory gaseous exchange [GO:0007585]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=COX15.1; IsoId=Q7KZN9-1; Sequence=Displayed; Name=2; Synonyms=COX15.2; IsoId=Q7KZN9-2; Sequence=VSP_011281; 

location:
SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000269|PubMed:9878253}; Multi-pass membrane protein {ECO:0000269|PubMed:9878253}.


uniprotID: Q9H9E3
geneSymbol: COG4
reactome: R-HSA-6807878;R-HSA-6811438;R-HSA-6811440;
pdb: 3HR0;
length: 785
go: ENSG00000103051;
snps: rs3931036
name:
Conserved oligomeric Golgi complex subunit 4 (COG complex subunit 4) (Component of oligomeric Golgi complex 4)

sequence:

opentargets:
Golgi membrane [GO:0000139]; Golgi transport complex [GO:0017119]; trans-Golgi network membrane [GO:0032588]; identical protein binding [GO:0042802]; ER to Golgi vesicle-mediated transport [GO:0006888]; Golgi organization [GO:0007030]; Golgi vesicle prefusion complex stabilization [GO:0048213]; protein transport [GO:0015031]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H9E3-1; Sequence=Displayed; Name=2; Synonyms=Cog4S; IsoId=Q9H9E3-2; Sequence=VSP_001127, VSP_001128; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=Q9H9E3-3; Sequence=VSP_037551; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000305|PubMed:11703943}; Peripheral membrane protein {ECO:0000305|PubMed:11703943}; Cytoplasmic side {ECO:0000305|PubMed:11703943}.


uniprotID: Q9Y6Z7
geneSymbol: COLEC10
reactome: R-HSA-166662;R-HSA-166663;
name: Collectin-10 (Collectin liver protein 1) (CL-L1) (Collectin-34) (CL-34)
length: 277
go: ENSG00000184374;
snps: rs773764995
sequence:

opentargets:
collagen trimer [GO:0005581]; cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; chemoattractant activity [GO:0042056]; mannose binding [GO:0005537]; monosaccharide binding [GO:0048029]; serine-type endopeptidase activity [GO:0004252]; complement activation [GO:0006956]; complement activation, lectin pathway [GO:0001867]; cranial skeletal system development [GO:1904888]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:28301481}. Golgi apparatus {ECO:0000250|UniProtKB:Q8CF98}. Cytoplasm {ECO:0000269|PubMed:10224141}.


uniprotID: Q96MW5
geneSymbol: COG8
reactome: R-HSA-6807878;R-HSA-6811438;R-HSA-6811440;
length: 612
go: ENSG00000272617;
snps: rs3027
name:
Conserved oligomeric Golgi complex subunit 8 (COG complex subunit 8) (Component of oligomeric Golgi complex 8)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; Golgi transport complex [GO:0017119]; membrane [GO:0016020]; trans-Golgi network membrane [GO:0032588]; ER to Golgi vesicle-mediated transport [GO:0006888]; intra-Golgi vesicle-mediated transport [GO:0006891]; protein transport [GO:0015031]

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:11703943}; Peripheral membrane protein {ECO:0000269|PubMed:11703943}.


uniprotID: P00395
geneSymbol: MT-CO1
reactome: R-HSA-5628897;R-HSA-611105;
name: Cytochrome c oxidase subunit 1 (EC 1.9.3.1) (Cytochrome c oxidase polypeptide I)
length: 513
go: ENSG00000198804;
drug: DB02659;DB04464;DB09325;
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex III [GO:0005750]; mitochondrial respiratory chain complex IV [GO:0005751]; respiratory chain complex IV [GO:0045277]; cytochrome-c oxidase activity [GO:0004129]; heme binding [GO:0020037]; metal ion binding [GO:0046872]; aerobic respiration [GO:0009060]; aging [GO:0007568]; cerebellum development [GO:0021549]; electron transport coupled proton transport [GO:0015990]; mitochondrial electron transport, cytochrome c to oxygen [GO:0006123]; response to copper ion [GO:0046688]; response to electrical stimulus [GO:0051602]; response to oxidative stress [GO:0006979]

snps:
rs281865417 rs267606883 rs28461189 rs2853818 rs199476127 rs199476126 rs368552121 rs372136420 rs267606884 


uniprotID: P57737
geneSymbol: CORO7
name: Coronin-7 (Crn7) (70 kDa WD repeat tumor rejection antigen homolog)
length: 925
go: ENSG00000262246;
snps: rs17137007 rs3747579 rs35357594 rs9928967
sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; trans-Golgi network [GO:0005802]; actin binding [GO:0003779]; actin filament polymerization [GO:0030041]; Golgi to endosome transport [GO:0006895]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P57737-1; Sequence=Displayed; Name=2; IsoId=P57737-2; Sequence=VSP_038152; Note=No experimental confirmation available.; Name=3; IsoId=P57737-3; Sequence=VSP_046022; Note=No experimental confirmation available. {ECO:0000305}; Name=4; IsoId=P57737-4; Sequence=VSP_046752; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane. Golgi apparatus, trans-Golgi network. Cytoplasmic vesicle {ECO:0000250}. Cytoplasm, cytosol {ECO:0000250}. Note=Predominantly cytosolic. Detected on vesicle-like cytoplasmic structures and on the cis-Golgi. Not associated with actin filaments.


uniprotID: Q6JQN1
geneSymbol: ACAD10
reactome: R-HSA-77289;
name: Acyl-CoA dehydrogenase family member 10 (ACAD-10) (EC 1.3.99.-)
length: 1059
go: ENSG00000111271;
snps: rs35276160 rs35753710 rs36046440 rs34245489
sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; acyl-CoA dehydrogenase activity [GO:0003995]; flavin adenine dinucleotide binding [GO:0050660]; hydrolase activity [GO:0016787]; fatty acid beta-oxidation [GO:0006635]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q6JQN1-1; Sequence=Displayed; Name=2; IsoId=Q6JQN1-2; Sequence=VSP_024634, VSP_024635; Name=3; IsoId=Q6JQN1-3; Sequence=VSP_024630, VSP_024633, VSP_024634, VSP_024635; Note=No experimental confirmation available.; Name=4; IsoId=Q6JQN1-4; Sequence=VSP_024631, VSP_024632; Note=No experimental confirmation available.; Name=5; IsoId=Q6JQN1-5; Sequence=VSP_044980; Note=No experimental confirmation available.; 


uniprotID: P54619
geneSymbol: PRKAG1
reactome: R-HSA-1445148;R-HSA-1632852;R-HSA-2151209;R-HSA-380972;R-HSA-5628897;R-HSA-6804756;
pdb: 2UV4;2UV5;2UV6;2UV7;4CFE;4CFF;4RER;4REW;4ZHX;5EZV;5ISO;6B1U;6B2E;
name: 5'-AMP-activated protein kinase subunit gamma-1 (AMPK gamma1) (AMPK subunit gamma-1) (AMPKg)
length: 331
go: ENSG00000181929;
drug: DB00945;
snps: rs1126930 rs34210356
sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleotide-activated protein kinase complex [GO:0031588]; ADP binding [GO:0043531]; AMP binding [GO:0016208]; ATP binding [GO:0005524]; cAMP-dependent protein kinase activity [GO:0004691]; cAMP-dependent protein kinase regulator activity [GO:0008603]; protein kinase activity [GO:0004672]; protein kinase binding [GO:0019901]; cell cycle arrest [GO:0007050]; fatty acid biosynthetic process [GO:0006633]; import into nucleus [GO:0051170]; macroautophagy [GO:0016236]; positive regulation of gene expression [GO:0010628]; positive regulation of protein kinase activity [GO:0045860]; protein phosphorylation [GO:0006468]; regulation of glycolytic process [GO:0006110]; regulation of protein serine/threonine kinase activity [GO:0071900]; signal transduction [GO:0007165]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P54619-1; Sequence=Displayed; Name=2; IsoId=P54619-2; Sequence=VSP_046711; Note=No experimental confirmation available.; Name=3; IsoId=P54619-3; Sequence=VSP_046712; Note=No experimental confirmation available. May be due to competing acceptor splice site.; 


uniprotID: Q9P2A4
geneSymbol: ABI3
name: ABI gene family member 3 (New molecule including SH3) (Nesh)
length: 366
go: ENSG00000108798;
snps: rs2233369 rs616338 rs616338
sequence:

opentargets:
cytoplasm [GO:0005737]; intracellular [GO:0005622]; lamellipodium [GO:0030027]; membrane [GO:0016020]; identical protein binding [GO:0042802]; SH3 domain binding [GO:0017124]; regulation of cell migration [GO:0030334]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P2A4-1; Sequence=Displayed; Name=2; IsoId=Q9P2A4-2; Sequence=VSP_041467; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11956071}. Note=Colocalizes with PAK2 at leading edge of cells.


uniprotID: P30480
geneSymbol: HLA-B
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
pdb: 4U1J;4U1M;4U1N;
name: HLA class I histocompatibility antigen, B-42 alpha chain (MHC class I antigen B*42)
length: 362
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

snps:
rs1050458 rs1050462 rs1131165 rs1131170 rs1050486 rs713031 rs713031 rs713031 rs1050529 rs1050570 rs1065386 rs1050393 rs1131215 rs1050388 rs1050379 rs1050654 rs1131500 rs1051488 rs2308655 rs2308655 


uniprotID: P47898
geneSymbol: HTR5A
reactome: R-HSA-390666;R-HSA-418594;
name: 5-hydroxytryptamine receptor 5A (5-HT-5) (5-HT-5A) (5-HT5A) (Serotonin receptor 5A)
length: 357
go: ENSG00000157219;
drug: DB06216;DB00408;DB00334;
snps: rs746290830
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
dendrite [GO:0030425]; Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic specialization membrane [GO:0099060]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; rough endoplasmic reticulum [GO:0005791]; 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 serotonin receptor signaling pathway [GO:0007198]; cAMP-mediated signaling [GO:0019933]; 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]; hippocampus development [GO:0021766]; response to estradiol [GO:0032355]


uniprotID: Q9GIY3
geneSymbol: HLA-DRB1
reactome: R-HSA-202424;R-HSA-202427;R-HSA-202430;R-HSA-202433;R-HSA-2132295;R-HSA-389948;R-HSA-877300;
length: 266
name:
HLA class II histocompatibility antigen, DRB1-14 beta chain (MHC class II antigen DRB1*14) (DR-14) (DR14)

sequence:


uniprotID: Q9BYF1
geneSymbol: ACE2
reactome: R-HSA-2022377;
pdb: 1R42;1R4L;1XJP;2AJF;3D0G;3D0H;3D0I;3KBH;3SCI;3SCJ;3SCK;3SCL;6ACG;6ACJ;6ACK;6CS2;
length: 805
go: ENSG00000130234;
drug: DB00722;DB00691;DB05203;DB05358;
snps: rs4646116 rs183135788
name:
Angiotensin-converting enzyme 2 (EC 3.4.17.23) (ACE-related carboxypeptidase) (Angiotensin-converting enzyme homolog) (ACEH) (Metalloprotease MPROT15) [Cleaved into: Processed angiotensin-converting enzyme 2]

sequence:

opentargets:
brush border membrane [GO:0031526]; cell surface [GO:0009986]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; carboxypeptidase activity [GO:0004180]; endopeptidase activity [GO:0004175]; exopeptidase activity [GO:0008238]; metallocarboxypeptidase activity [GO:0004181]; virus receptor activity [GO:0001618]; zinc ion binding [GO:0008270]; angiotensin maturation [GO:0002003]; angiotensin-mediated drinking behavior [GO:0003051]; positive regulation of amino acid transport [GO:0051957]; positive regulation of cardiac muscle contraction [GO:0060452]; positive regulation of gap junction assembly [GO:1903598]; positive regulation of reactive oxygen species metabolic process [GO:2000379]; receptor biosynthetic process [GO:0032800]; receptor-mediated virion attachment to host cell [GO:0046813]; regulation of blood vessel diameter [GO:0097746]; regulation of cardiac conduction [GO:1903779]; regulation of cell proliferation [GO:0042127]; regulation of cytokine production [GO:0001817]; regulation of inflammatory response [GO:0050727]; regulation of systemic arterial blood pressure by renin-angiotensin [GO:0003081]; regulation of vasoconstriction [GO:0019229]; tryptophan transport [GO:0015827]; viral entry into host cell [GO:0046718]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BYF1-1; Sequence=Displayed; Name=2; IsoId=Q9BYF1-2; Sequence=VSP_014901, VSP_014902; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Processed angiotensin-converting enzyme 2: Secreted.; SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Cytoplasm {ECO:0000250}. Note=Detected in both cell membrane and cytoplasm in neurons. {ECO:0000250}.


uniprotID: A5X5Y0
geneSymbol: HTR3E
reactome: R-HSA-112314;
name: 5-hydroxytryptamine receptor 3E (5-HT3-E) (5-HT3E) (Serotonin receptor 3E)
length: 456
go: ENSG00000186038;
drug: DB01049;DB00898;DB13025;
snps: rs7627615 rs13324468
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]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=A5X5Y0-1; Sequence=Displayed; Name=2; Synonyms=5-HT3c1; IsoId=A5X5Y0-2; Sequence=VSP_029804; Name=3; IsoId=A5X5Y0-3; Sequence=VSP_029803; Name=4; Synonyms=5-HT3c1 long; IsoId=A5X5Y0-4; Sequence=VSP_029803, VSP_029804; Name=5; Synonyms=HTR3E_V3; IsoId=A5X5Y0-6; Sequence=VSP_029803, VSP_029804, VSP_045573; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17392525, ECO:0000269|PubMed:19012743}; Multi-pass membrane protein {ECO:0000269|PubMed:17392525, ECO:0000269|PubMed:19012743}. Note=Presumably retained within the endoplasmic reticulum unless complexed with HTR3A.


uniprotID: P11230
geneSymbol: CHRNB1
name: Acetylcholine receptor subunit beta
length: 501
go: ENSG00000170175;
drug: DB00674;
snps: rs17856697 rs17856698 rs137852811 rs137852810
sequence:

opentargets:
acetylcholine-gated channel complex [GO:0005892]; cell junction [GO:0030054]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic specialization membrane [GO:0099060]; neuromuscular junction [GO:0031594]; neuron projection [GO:0043005]; synapse [GO:0045202]; acetylcholine binding [GO:0042166]; acetylcholine-gated cation-selective channel activity [GO:0022848]; channel activity [GO:0015267]; ligand-gated ion channel activity [GO:0015276]; transmembrane signaling receptor activity [GO:0004888]; transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential [GO:1904315]; behavioral response to nicotine [GO:0035095]; cation transport [GO:0006812]; chemical synaptic transmission [GO:0007268]; ion transmembrane transport [GO:0034220]; muscle contraction [GO:0006936]; muscle fiber development [GO:0048747]; nervous system process [GO:0050877]; neuromuscular synaptic transmission [GO:0007274]; postsynaptic membrane organization [GO:0001941]; regulation of membrane potential [GO:0042391]; response to nicotine [GO:0035094]; signal transduction [GO:0007165]; skeletal muscle contraction [GO:0003009]; synaptic transmission, cholinergic [GO:0007271]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P11230-1; Sequence=Displayed; Name=2; IsoId=P11230-2; Sequence=VSP_056675; Note=No experimental confirmation available.; 


uniprotID: P34969
geneSymbol: HTR7
reactome: R-HSA-390666;R-HSA-418555;
name: 5-hydroxytryptamine receptor 7 (5-HT-7) (5-HT7) (5-HT-X) (Serotonin receptor 7)
length: 479
go: ENSG00000148680;
snps: rs114969659 rs33954285
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
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]; blood circulation [GO:0008015]; chemical synaptic transmission [GO:0007268]; circadian rhythm [GO:0007623]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; smooth muscle contraction [GO:0006939]; vasoconstriction [GO:0042310]

drug:
DB06288;DB00321;DB00543;DB01238;DB06216;DB01200;DB00248;DB00477;DB00363;DB00988;DB00216;DB00751;DB01049;DB04946;DB00458;DB00408;DB08815;DB00934;DB00247;DB06148;DB00370;DB00334;DB01224;DB13025;DB09068;DB00246;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Isoform A and isoform B appear to be expressed at higher levels.; Name=D; IsoId=P34969-1; Sequence=Displayed; Name=A; IsoId=P34969-2; Sequence=VSP_001857; Name=B; IsoId=P34969-3; Sequence=VSP_001856; 


uniprotID: Q96GR2
geneSymbol: ACSBG1
reactome: R-HSA-75876;
length: 724
go: ENSG00000103740;
snps: rs12899901 rs2304824 rs11072735
name:
Long-chain-fatty-acid--CoA ligase ACSBG1 (EC 6.2.1.3) (Acyl-CoA synthetase bubblegum family member 1) (hBG1) (hsBG) (hsBGM) (Lipidosin)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; 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]; long-chain fatty acid metabolic process [GO:0001676]; long-chain fatty-acyl-CoA biosynthetic process [GO:0035338]; myelination [GO:0042552]; response to glucocorticoid [GO:0051384]; very long-chain fatty acid metabolic process [GO:0000038]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10954726}. Cytoplasmic vesicle {ECO:0000250}. Microsome {ECO:0000250}. Endoplasmic reticulum {ECO:0000250}.


uniprotID: Q9H7C9
geneSymbol: AAMDC
pdb: 2AB1;2Q4Q;
name: Mth938 domain-containing protein (Adipogenesis associated Mth938 domain-containing protein)
length: 122
go: ENSG00000087884;
snps: rs2186564
sequence:
MTSPEIASLSWGQMKVKGSNTTYKDCKVWPGGSRTWDWRETGTEHSPGVQPADVKEVVEKGVQTLVIGRGMSEALKVPSSTVEYLKKHGIDVRVLQTEQAVKEYNALVAQGVRVGGVFHSTC

opentargets:
cytoplasm [GO:0005737]; negative regulation of apoptotic process [GO:0043066]; positive regulation of fat cell differentiation [GO:0045600]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H7C9-1; Sequence=Displayed; Name=2; IsoId=Q9H7C9-2; Sequence=VSP_019267, VSP_019269; Name=3; IsoId=Q9H7C9-3; Sequence=VSP_019266, VSP_019268; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Note=Diffuse distribution with some highly concentrated spots around the nucleus. {ECO:0000250}.


uniprotID: Q709F0
geneSymbol: ACAD11
reactome: R-HSA-77289;
pdb: 2WBI;
name: Acyl-CoA dehydrogenase family member 11 (ACAD-11) (EC 1.3.99.-)
length: 780
go: ENSG00000240303;
snps: rs6776576
sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial membrane [GO:0031966]; nucleus [GO:0005634]; peroxisome [GO:0005777]; acyl-CoA dehydrogenase activity [GO:0003995]; 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]; fatty acid beta-oxidation [GO:0006635]; fatty acid beta-oxidation using acyl-CoA dehydrogenase [GO:0033539]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q709F0-1; Sequence=Displayed; Name=2; IsoId=Q709F0-2; Sequence=VSP_021188; Name=3; IsoId=Q709F0-3; Sequence=VSP_021187; 

location:
SUBCELLULAR LOCATION: Peroxisome {ECO:0000250}. Mitochondrion {ECO:0000269|PubMed:21237683}. Note=Has been detected associated with mitochondrial membrane, but no matrix, in kidney and cerebellum, as well as in a neuroblastoma cell line, but not in skin fibroblasts, where it is observed in cytoplasmic vesicles (PubMed:21237683). No mitochondrial targeting signals could be predicted for any known isoform, including a putative isoform starting at Met-316. {ECO:0000269|PubMed:21237683}.


uniprotID: Q5T8D3
geneSymbol: ACBD5
reactome: R-HSA-390918;
pdb: 3FLV;
name: Acyl-CoA-binding domain-containing protein 5
length: 534
go: ENSG00000107897;
snps: rs7918793
sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; peroxisomal membrane [GO:0005778]; peroxisome [GO:0005777]; fatty-acyl-CoA binding [GO:0000062]; lipid binding [GO:0008289]; autophagy of peroxisome [GO:0030242]; fatty acid catabolic process [GO:0009062]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q5T8D3-1; Sequence=Displayed; Name=2; IsoId=Q5T8D3-2; Sequence=VSP_025447, VSP_025449; Name=3; IsoId=Q5T8D3-3; Sequence=VSP_025446, VSP_025449; Name=4; IsoId=Q5T8D3-4; Sequence=VSP_025448, VSP_025449; 

location:
SUBCELLULAR LOCATION: Peroxisome membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}.


uniprotID: Q9UBJ2
geneSymbol: ABCD2
reactome: R-HSA-1369062;
length: 740
go: ENSG00000173208;
location: SUBCELLULAR LOCATION: Peroxisome membrane; Multi-pass membrane protein.
name:
ATP-binding cassette sub-family D member 2 (Adrenoleukodystrophy-like 1) (Adrenoleukodystrophy-related protein) (hALDR)

sequence:

opentargets:
cytosol [GO:0005829]; integral component of membrane [GO:0016021]; peroxisomal membrane [GO:0005778]; peroxisome [GO:0005777]; ATP binding [GO:0005524]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; long-chain fatty acid transporter activity [GO:0005324]; protein homodimerization activity [GO:0042803]; fatty acid beta-oxidation [GO:0006635]; 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]; positive regulation of fatty acid beta-oxidation [GO:0032000]; positive regulation of unsaturated fatty acid biosynthetic process [GO:2001280]; transmembrane transport [GO:0055085]; very long-chain fatty acid catabolic process [GO:0042760]; very long-chain fatty acid metabolic process [GO:0000038]


uniprotID: Q9NP58
geneSymbol: ABCB6
reactome: R-HSA-1369007;R-HSA-5683371;
pdb: 3NH6;3NH9;3NHA;3NHB;
length: 842
go: ENSG00000115657;
name:
ATP-binding cassette sub-family B member 6, mitochondrial (Mitochondrial ABC transporter 3) (Mt-ABC transporter 3) (P-glycoprotein-related protein) (Ubiquitously-expressed mammalian ABC half transporter)

sequence:

opentargets:
ATP-binding cassette (ABC) transporter complex [GO:0043190]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; endosome [GO:0005768]; endosome membrane [GO:0010008]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of mitochondrial outer membrane [GO:0031307]; mitochondrial envelope [GO:0005740]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; efflux transmembrane transporter activity [GO:0015562]; heme binding [GO:0020037]; heme transporter activity [GO:0015232]; heme-transporting ATPase activity [GO:0015439]; brain development [GO:0007420]; cellular iron ion homeostasis [GO:0006879]; heme transport [GO:0015886]; porphyrin-containing compound biosynthetic process [GO:0006779]; skin development [GO:0043588]; transmembrane transport [GO:0055085]

snps:
rs387906911 rs397514757 rs13018440 rs60322991 rs397514756 rs754667801 rs764893806 rs796065353 rs397514758 rs13402964 rs148211042 rs387906910 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NP58-1; Sequence=Displayed; Name=2; IsoId=Q9NP58-4; Sequence=VSP_021973; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17661442, ECO:0000269|PubMed:23180570}; Multi-pass membrane protein {ECO:0000255}. Mitochondrion outer membrane {ECO:0000269|PubMed:17006453, ECO:0000269|PubMed:17661442, ECO:0000305|PubMed:10837493}; Multi-pass membrane protein {ECO:0000255}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:18279659, ECO:0000269|PubMed:22226084}; Multi-pass membrane protein {ECO:0000255}. Golgi apparatus membrane {ECO:0000269|PubMed:18279659, ECO:0000269|PubMed:22226084}; Multi-pass membrane protein {ECO:0000255}. Endosome membrane {ECO:0000250|UniProtKB:Q9DC29}; Multi-pass membrane protein {ECO:0000255}. Note=localized to the endosome-like compartment and dendrite tips. {ECO:0000250|UniProtKB:Q9DC29}.


uniprotID: P61221
geneSymbol: ABCE1
reactome: R-HSA-909733;
length: 599
go: ENSG00000164163;
snps: rs3816497
name:
ATP-binding cassette sub-family E member 1 (2'-5'-oligoadenylate-binding protein) (HuHP68) (RNase L inhibitor) (Ribonuclease 4 inhibitor) (RNS4I)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; endoribonuclease inhibitor activity [GO:0060698]; iron ion binding [GO:0005506]; ribosomal small subunit binding [GO:0043024]; negative regulation of endoribonuclease activity [GO:0060702]; regulation of type I interferon-mediated signaling pathway [GO:0060338]; ribosomal subunit export from nucleus [GO:0000054]; translational initiation [GO:0006413]; translational termination [GO:0006415]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11585831}. Mitochondrion {ECO:0000269|PubMed:11585831}. Note=Localized to clusters of virus formation at the plasma membrane.


uniprotID: Q8IZY2
geneSymbol: ABCA7
reactome: R-HSA-1369062;
length: 2146
go: ENSG00000064687;
name:
ATP-binding cassette sub-family A member 7 (ABCA-SSN) (Autoantigen SS-N) (Macrophage ABC transporter)

sequence:

opentargets:
ATP-binding cassette (ABC) transporter complex [GO:0043190]; cell junction [GO:0030054]; cell surface [GO:0009986]; early endosome membrane [GO:0031901]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; phagocytic cup [GO:0001891]; plasma membrane [GO:0005886]; ruffle membrane [GO:0032587]; apolipoprotein A-I receptor activity [GO:0034188]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; phosphatidylcholine-translocating ATPase activity [GO:0090554]; phosphatidylserine-translocating ATPase activity [GO:0090556]; transporter activity [GO:0005215]; apolipoprotein A-I-mediated signaling pathway [GO:0038027]; cholesterol efflux [GO:0033344]; high-density lipoprotein particle assembly [GO:0034380]; lipid transport [GO:0006869]; memory [GO:0007613]; negative regulation of amyloid precursor protein biosynthetic process [GO:0042985]; negative regulation of amyloid-beta formation [GO:1902430]; peptide cross-linking [GO:0018149]; phagocytosis [GO:0006909]; phospholipid efflux [GO:0033700]; phospholipid translocation [GO:0045332]; positive regulation of amyloid-beta clearance [GO:1900223]; positive regulation of cholesterol efflux [GO:0010875]; positive regulation of engulfment of apoptotic cell [GO:1901076]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of phagocytosis [GO:0050766]; positive regulation of phospholipid efflux [GO:1902995]; protein localization to nucleus [GO:0034504]

snps:
rs3764645 rs3752232 rs3764647 rs3752233 rs59851484 rs3752239 rs3745842 rs3752246 rs4147918 rs4147934 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Type 1; IsoId=Q8IZY2-1; Sequence=Displayed; Name=2; Synonyms=Type 2; IsoId=Q8IZY2-2; Sequence=VSP_020701, VSP_020702; Note=Inactive for apoA-I-mediated lipid release.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12917409, ECO:0000269|PubMed:14592415}; Multi-pass membrane protein {ECO:0000255}. Golgi apparatus membrane {ECO:0000250|UniProtKB:Q91V24}; Multi-pass membrane protein {ECO:0000255}. Early endosome membrane {ECO:0000250|UniProtKB:Q91V24}; Multi-pass membrane protein {ECO:0000255}. Note=Localizes to cell membrane ruffles and phagocytic cups of macrophages stimulated with C1q or apoptotic cells. Localizes to the cytoplasm of resting macrophages, probably in Golgi and endosomes. Localizes to the apical brush border of cells in the proximal tubules of kidney (By similarity). Isoform 2 may localize to the endoplasmic reticulum (PubMed:14592415). {ECO:0000250|UniProtKB:Q91V24, ECO:0000269|PubMed:14592415}.


uniprotID: Q7Z5R6
geneSymbol: APBB1IP
pdb: 2MWN;3ZDL;
length: 666
go: ENSG00000077420;
snps: rs34081356 rs7903226
reactome:
R-HSA-354192;R-HSA-354194;R-HSA-372708;R-HSA-5674135;R-HSA-6802946;R-HSA-6802948;R-HSA-6802949;R-HSA-6802952;R-HSA-6802955;

name:
Amyloid beta A4 precursor protein-binding family B member 1-interacting protein (APBB1-interacting protein 1) (Proline-rich EVH1 ligand 1) (PREL-1) (Proline-rich protein 73) (Rap1-GTP-interacting adapter molecule) (RIAM) (Retinoic acid-responsive proline-rich protein 1) (RARP-1)

sequence:

opentargets:
cytoskeleton [GO:0005856]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; lamellipodium [GO:0030027]; plasma membrane [GO:0005886]; T cell receptor complex [GO:0042101]; positive regulation of cell adhesion [GO:0045785]; signal transduction [GO:0007165]; T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell [GO:0002291]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z5R6-1; Sequence=Displayed; Name=2; IsoId=Q7Z5R6-2; Sequence=VSP_056542, VSP_056543; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cell projection, lamellipodium {ECO:0000250}. Cell junction, focal adhesion {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Note=Colocalizes with ENA/VASP proteins at lamellipodia tips and focal adhesions, and F-actin at the leading edge. At the membrane surface, associates, via the PH domain, preferentially with the inositol phosphates, PtdIns(5)P and PtdIns(3)P. This binding appears to be necessary for the efficient interaction of the RA domain to Ras-GTPases (By similarity). {ECO:0000250}.


uniprotID: Q8TB40
geneSymbol: ABHD4
reactome: R-HSA-1482839;
length: 342
go: ENSG00000100439;
name:
Protein ABHD4 (EC 3.-.-.-) (Alpha/beta hydrolase domain-containing protein 4) (Abhydrolase domain-containing protein 4) (Alpha/beta-hydrolase 4) (Lyso-N-acylphosphatidylethanolamine lipase)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; lipid droplet [GO:0005811]; carboxylic ester hydrolase activity [GO:0052689]; hydrolase activity [GO:0016787]; lipid catabolic process [GO:0016042]; lipid homeostasis [GO:0055088]; phosphatidylethanolamine acyl-chain remodeling [GO:0036152]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TB40-1; Sequence=Displayed; Name=2; IsoId=Q8TB40-2; Sequence=VSP_056924, VSP_056925; Note=No experimental confirmation available.; 


uniprotID: Q9NUN7
geneSymbol: ACER3
reactome: R-HSA-1660661;
length: 267
go: ENSG00000078124;
name:
Alkaline ceramidase 3 (AlkCDase 3) (Alkaline CDase 3) (EC 3.5.1.-) (Alkaline dihydroceramidase SB89) (Alkaline phytoceramidase) (aPHC)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of endoplasmic reticulum membrane [GO:0030176]; integral component of Golgi membrane [GO:0030173]; phytoceramidase activity [GO:0070774]; ceramide metabolic process [GO:0006672]; phytosphingosine biosynthetic process [GO:0071602]; positive regulation of cell proliferation [GO:0008284]; sphingolipid biosynthetic process [GO:0030148]; sphingosine biosynthetic process [GO:0046512]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NUN7-1; Sequence=Displayed; Name=2; IsoId=Q9NUN7-2; Sequence=VSP_039162, VSP_039163; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein.


uniprotID: P30475
geneSymbol: HLA-B
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
pdb: 4O2C;4O2E;4O2F;
name: HLA class I histocompatibility antigen, B-39 alpha chain (MHC class I antigen B*39)
length: 362
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

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

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


uniprotID: Q2M2I8
geneSymbol: AAK1
reactome: R-HSA-8856825;R-HSA-8856828;
pdb: 4WSQ;5L4Q;5TE0;
name: AP2-associated protein kinase 1 (EC 2.7.11.1) (Adaptor-associated kinase 1)
length: 961
go: ENSG00000115977;
snps: rs34535244 rs6715776 rs56038532 rs55889248 rs35285785 rs34422616
sequence:

opentargets:
cell leading edge [GO:0031252]; clathrin-coated pit [GO:0005905]; clathrin-coated vesicle [GO:0030136]; cytosol [GO:0005829]; extrinsic component of plasma membrane [GO:0019897]; nucleus [GO:0005634]; terminal bouton [GO:0043195]; AP-2 adaptor complex binding [GO:0035612]; ATP binding [GO:0005524]; Notch binding [GO:0005112]; protein serine/threonine kinase activity [GO:0004674]; endocytosis [GO:0006897]; membrane organization [GO:0061024]; positive regulation of Notch signaling pathway [GO:0045747]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; protein stabilization [GO:0050821]; regulation of clathrin-dependent endocytosis [GO:2000369]; regulation of endocytosis [GO:0030100]; regulation of protein localization [GO:0032880]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=AAK1L; IsoId=Q2M2I8-1; Sequence=Displayed; Name=2; Synonyms=AAK1S; IsoId=Q2M2I8-2; Sequence=VSP_039459; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Membrane, clathrin-coated pit {ECO:0000250}. Note=Active when found in clathrin-coated pits at the plasma membrane. In neuronal cells, enriched at presynaptic terminals. In non-neuronal cells, enriched at leading edge of migrating cells (By similarity). {ECO:0000250}.


uniprotID: Q8WWZ4
geneSymbol: ABCA10
reactome: R-HSA-1369062;
name: ATP-binding cassette sub-family A member 10
length: 1543
go: ENSG00000154263;
snps: rs9909216 rs11657804 rs4968849 rs10491178
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; ATP binding [GO:0005524]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; lipid transport [GO:0006869]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8WWZ4-1; Sequence=Displayed; Name=2; Synonyms=ABCA10delta+82; IsoId=Q8WWZ4-2; Sequence=VSP_021061; Name=3; Synonyms=ABCA10delta-104; IsoId=Q8WWZ4-3; Sequence=VSP_021062, VSP_021063; Name=4; Synonyms=ABCA10delta-176; IsoId=Q8WWZ4-4; Sequence=VSP_021065, VSP_021066; Name=5; IsoId=Q8WWZ4-5; Sequence=VSP_021064, VSP_021067; Note=No experimental confirmation available.; 


uniprotID: O00763
geneSymbol: ACACB
reactome: R-HSA-163765;R-HSA-196780;R-HSA-200425;R-HSA-2426168;
pdb: 2DN8;2HJW;2KCC;3FF6;3GID;3GLK;3JRW;3JRX;3TDC;4HQ6;5KKN;
name: Acetyl-CoA carboxylase 2 (EC 6.4.1.2) (ACC-beta) [Includes: Biotin carboxylase (EC 6.3.4.14)]
length: 2458
go: ENSG00000076555;
drug: DB07870;DB00173;DB00121;DB02859;
snps: rs16940029 rs2300455 rs2075260
sequence:

opentargets:
cytosol [GO:0005829]; endomembrane system [GO:0012505]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; acetyl-CoA carboxylase activity [GO:0003989]; ATP binding [GO:0005524]; biotin binding [GO:0009374]; biotin carboxylase activity [GO:0004075]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; acetyl-CoA metabolic process [GO:0006084]; carnitine shuttle [GO:0006853]; energy homeostasis [GO:0097009]; fatty acid biosynthetic process [GO:0006633]; malonyl-CoA biosynthetic process [GO:2001295]; negative regulation of catalytic activity [GO:0043086]; negative regulation of fatty acid beta-oxidation [GO:0031999]; negative regulation of gene expression [GO:0010629]; positive regulation of cellular metabolic process [GO:0031325]; positive regulation of heart growth [GO:0060421]; positive regulation of lipid storage [GO:0010884]; protein homotetramerization [GO:0051289]; regulation of cholesterol biosynthetic process [GO:0045540]; regulation of glucose metabolic process [GO:0010906]; response to drug [GO:0042493]; response to nutrient levels [GO:0031667]; response to organic cyclic compound [GO:0014070]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Long; IsoId=O00763-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=O00763-2; Sequence=VSP_000547; Name=3 {ECO:0000305}; Synonyms=ACC2.v2 {ECO:0000303|PubMed:19190759}; IsoId=O00763-3; Sequence=VSP_057081, VSP_057082; 

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:10677481}. Nucleus {ECO:0000269|PubMed:10677481}. Endomembrane system. Note=May associate with membranes.


uniprotID: Q66LE6
geneSymbol: PPP2R2D
reactome: R-HSA-2465910;
length: 453
go: ENSG00000175470;
snps: rs34473884
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B delta isoform (PP2A subunit B isoform B55-delta) (PP2A subunit B isoform PR55-delta) (PP2A subunit B isoform R2-delta) (PP2A subunit B isoform delta)

sequence:

opentargets:
cytosol [GO:0005829]; protein phosphatase type 2A complex [GO:0000159]; protein phosphatase regulator activity [GO:0019888]; cell division [GO:0051301]; exit from mitosis [GO:0010458]; mitotic cell cycle [GO:0000278]; peptidyl-serine dephosphorylation [GO:0070262]


uniprotID: Q96J66
geneSymbol: ABCC11
reactome: R-HSA-382556;
name: ATP-binding cassette sub-family C member 11 (Multidrug resistance-associated protein 8)
length: 1382
go: ENSG00000121270;
drug: DB00286;DB02527;DB00158;DB00328;DB00563;DB01032;DB04348;
sequence:

opentargets:
cytoplasmic vesicle membrane [GO:0030659]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; vacuolar membrane [GO:0005774]; ATP binding [GO:0005524]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; ATPase-coupled anion transmembrane transporter activity [GO:0043225]; organic anion transmembrane transporter activity [GO:0008514]; purine nucleotide transmembrane transporter activity [GO:0015216]; organic anion transport [GO:0015711]; purine nucleotide transport [GO:0015865]; transmembrane transport [GO:0055085]

snps:
rs16945988 rs17822931 rs11863236 rs17822471 rs41282045 rs16945930 rs16945928 rs16945926 rs41280943 rs16945916 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96J66-1; Sequence=Displayed; Name=2; Synonyms=Isoform A; IsoId=Q96J66-2; Sequence=VSP_017351; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19383836, ECO:0000269|PubMed:25896536}; Multi-pass membrane protein {ECO:0000255}. Vacuole membrane {ECO:0000269|PubMed:19383836}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:25896536}.


uniprotID: Q8NC06
geneSymbol: ACBD4
reactome: R-HSA-390918;
pdb: 2WH5;
name: Acyl-CoA-binding domain-containing protein 4
length: 268
go: ENSG00000181513;
opentargets: fatty-acyl-CoA binding [GO:0000062]; lipid binding [GO:0008289]
snps: rs901754 rs16939879
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NC06-1; Sequence=Displayed; Name=2; IsoId=Q8NC06-2; Sequence=VSP_014089; Name=3; IsoId=Q8NC06-3; Sequence=VSP_014088, VSP_014090; 


uniprotID: O43741
geneSymbol: PRKAB2
pdb: 2F15;2V8Q;2V92;2V9J;2Y8L;2Y8Q;2YA3;4CFH;4EAI;4EAJ;4RER;4REW;6B2E;
name: 5'-AMP-activated protein kinase subunit beta-2 (AMPK subunit beta-2)
length: 272
go: ENSG00000131791;
drug: DB00945;DB00131;
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:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleotide-activated protein kinase complex [GO:0031588]; nucleus [GO:0005634]; identical protein binding [GO:0042802]; protein kinase binding [GO:0019901]; cell cycle arrest [GO:0007050]; fatty acid biosynthetic process [GO:0006633]; macroautophagy [GO:0016236]; positive regulation of cold-induced thermogenesis [GO:0120162]; protein phosphorylation [GO:0006468]; regulation of catalytic activity [GO:0050790]; regulation of fatty acid biosynthetic process [GO:0042304]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43741-1; Sequence=Displayed; Name=2; IsoId=O43741-2; Sequence=VSP_055820, VSP_055821; Note=No experimental confirmation available.; 


uniprotID: O00400
geneSymbol: SLC33A1
reactome: R-HSA-425397;R-HSA-5619061;
length: 549
go: ENSG00000169359;
snps: rs281875283 rs121909484 rs3804769
name:
Acetyl-coenzyme A transporter 1 (AT-1) (Acetyl-CoA transporter 1) (Solute carrier family 33 member 1)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; Golgi membrane [GO:0000139]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; acetyl-CoA transmembrane transporter activity [GO:0008521]; solute:proton symporter activity [GO:0015295]; BMP signaling pathway [GO:0030509]; SMAD protein signal transduction [GO:0060395]; transmembrane transport [GO:0055085]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000305|PubMed:9096318}; Multi-pass membrane protein {ECO:0000305|PubMed:9096318}.


uniprotID: P04217
geneSymbol: A1BG
reactome: R-HSA-114608;R-HSA-6798695;
name: Alpha-1B-glycoprotein (Alpha-1-B glycoprotein)
length: 495
go: ENSG00000121410;
snps: rs893184 rs2241788
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
blood microparticle [GO:0072562]; collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; ficolin-1-rich granule lumen [GO:1904813]; platelet alpha granule lumen [GO:0031093]; secretory granule lumen [GO:0034774]; neutrophil degranulation [GO:0043312]; platelet degranulation [GO:0002576]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P04217-1; Sequence=Displayed; Name=2; IsoId=P04217-2; Sequence=VSP_040323; Note=No experimental confirmation available.; 


uniprotID: P13760
geneSymbol: HLA-DRB1
reactome: R-HSA-202424;R-HSA-202427;R-HSA-202430;R-HSA-202433;R-HSA-2132295;R-HSA-389948;R-HSA-877300;
length: 266
snps: rs707953 rs9269744
pdb:
1D5M;1D5X;1D5Z;1D6E;1J8H;2SEB;3O6F;3T0E;4IS6;4MCY;4MCZ;4MD0;4MD4;4MD5;4MDI;4MDJ;4Y19;4Y1A;5JLZ;5LAX;5NI9;5NIG;6BIJ;6BIL;6BIN;6BIR;6BIV;6BIX;6BIY;6BIZ;

name:
HLA class II histocompatibility antigen, DRB1-4 beta chain (MHC class II antigen DRB1*4) (DR-4) (DR4)

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]; integral component of plasma membrane [GO:0005887]; late endosome membrane [GO:0031902]; lysosomal membrane [GO:0005765]; MHC class II protein complex [GO:0042613]; plasma membrane [GO:0005886]; trans-Golgi network membrane [GO:0032588]; transport vesicle membrane [GO:0030658]; CD4 receptor binding [GO:0042609]; 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 inflammatory response to antigenic stimulus [GO:0002862]; negative regulation of interferon-gamma production [GO:0032689]; negative regulation of T cell proliferation [GO:0042130]; peptide antigen assembly with MHC class II protein complex [GO:0002503]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0035774]; positive regulation of kinase activity [GO:0033674]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of monocyte differentiation [GO:0045657]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of viral entry into host cell [GO:0046598]; protein heterotetramerization [GO:0051290]; protein tetramerization [GO:0051262]; regulation of interleukin-10 secretion [GO:2001179]; regulation of interleukin-4 production [GO:0032673]; signal transduction [GO:0007165]; T cell receptor signaling pathway [GO:0050852]; T-helper 1 type immune response [GO:0042088]


uniprotID: Q9H222
geneSymbol: ABCG5
reactome: R-HSA-1369062;R-HSA-5679090;R-HSA-5679096;
pdb: 5DO7;
name: ATP-binding cassette sub-family G member 5 (Sterolin-1)
length: 651
go: ENSG00000138075;
drug: DB00973;
sequence:

opentargets:
apical plasma membrane [GO:0016324]; ATP-binding cassette (ABC) transporter complex [GO:0043190]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; ATP binding [GO:0005524]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; cholesterol transporter activity [GO:0017127]; drug transmembrane transporter activity [GO:0015238]; metal ion binding [GO:0046872]; protein heterodimerization activity [GO:0046982]; cholesterol efflux [GO:0033344]; cholesterol homeostasis [GO:0042632]; excretion [GO:0007588]; intestinal cholesterol absorption [GO:0030299]; negative regulation of intestinal cholesterol absorption [GO:0045796]; negative regulation of intestinal phytosterol absorption [GO:0010949]; response to ionizing radiation [GO:0010212]; response to nutrient [GO:0007584]; transmembrane transport [GO:0055085]

snps:
rs6756629 rs758551848 rs119480069 rs119479067 rs119479067 rs575266356 rs17031672 rs140899003 rs779109455 rs6720173 rs140374206 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H222-1; Sequence=Displayed; Name=2; IsoId=Q9H222-2; Sequence=VSP_055770; Note=No experimental confirmation available.; 

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


uniprotID: P86434
geneSymbol: ADORA2A-AS1
length: 159
name:
Putative uncharacterized protein ADORA2A-AS1 (ADORA2A antisense RNA 1) (ADORA2A antisense gene protein 1)

sequence:
MEQDWQPGEEVTPGPEPCSKGQAPLYPIVHVTELKHTDPNFPSNSNAVGTSSGWNRIGTGCSHTWDWRFSCTQQALLPLLGAWEWSIDTEAGGGRREQSQKPCSNGGPAAAGEGRVLPSPCFPWSTCQAAIHKVCRWQGCTRPALLAPSLATLKEHSYP


uniprotID: P28288
geneSymbol: ABCD3
reactome: R-HSA-1369062;
name: ATP-binding cassette sub-family D member 3 (70 kDa peroxisomal membrane protein) (PMP70)
length: 659
go: ENSG00000117528;
snps: rs121917999
sequence:

opentargets:
cytosol [GO:0005829]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; mitochondrion [GO:0005739]; peroxisomal matrix [GO:0005782]; peroxisomal membrane [GO:0005778]; peroxisome [GO:0005777]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; long-chain fatty acid transporter activity [GO:0005324]; protein homodimerization activity [GO:0042803]; protein self-association [GO:0043621]; fatty acid beta-oxidation [GO:0006635]; fatty acid biosynthetic process [GO:0006633]; peroxisomal long-chain fatty acid import [GO:0015910]; peroxisome organization [GO:0007031]; response to drug [GO:0042493]; response to organic cyclic compound [GO:0014070]; transmembrane transport [GO:0055085]; very long-chain fatty acid catabolic process [GO:0042760]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P28288-1; Sequence=Displayed; Name=2; IsoId=P28288-2; Sequence=VSP_031189; Note=No experimental confirmation available.; Name=3; IsoId=P28288-3; Sequence=VSP_031187, VSP_031188; 

location:
SUBCELLULAR LOCATION: Peroxisome membrane {ECO:0000269|PubMed:10704444}; Multi-pass membrane protein {ECO:0000255|PROSITE-ProRule:PRU00441, ECO:0000269|PubMed:10704444}.


uniprotID: P01889
geneSymbol: HLA-B
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-6798695;R-HSA-877300;R-HSA-909733;R-HSA-983170;
pdb: 3VCL;4U1H;4U1K;5EO0;5EO1;5WMN;5WMO;5WMP;6AT5;6AVF;6AVG;
name: HLA class I histocompatibility antigen, B-7 alpha chain (MHC class I antigen B*7)
length: 362
go: ENSG00000234745;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
cell surface [GO:0009986]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; ER to Golgi transport vesicle membrane [GO:0012507]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; MHC class I protein complex [GO:0042612]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; secretory granule membrane [GO:0030667]; peptide antigen binding [GO:0042605]; signaling receptor binding [GO:0005102]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent [GO:0002480]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; immune response [GO:0006955]; interferon-gamma-mediated signaling pathway [GO:0060333]; neutrophil degranulation [GO:0043312]; protection from natural killer cell mediated cytotoxicity [GO:0042270]; regulation of dendritic cell differentiation [GO:2001198]; regulation of immune response [GO:0050776]; regulation of interleukin-12 production [GO:0032655]; regulation of interleukin-6 production [GO:0032675]; regulation of T cell anergy [GO:0002667]; type I interferon signaling pathway [GO:0060337]; viral process [GO:0016032]

snps:
rs1050458 rs1050462 rs1131165 rs1131170 rs1050486 rs713031 rs713031 rs713031 rs1050529 rs1050570 rs1065386 rs1050393 rs1131215 rs1050388 rs796332753 rs1140412 rs1050379 rs709055 rs709055 rs1050654 rs2308466 rs2308466 rs2523600 rs2523600 rs2308466 rs1050696 rs1131500 rs1051488 rs2308655 rs2308655 


uniprotID: Q8WW27
geneSymbol: APOBEC4
reactome: R-HSA-72200;R-HSA-75094;
length: 367
go: ENSG00000173627;
snps: rs16861394 rs1174658 rs10911391 rs16861381 rs1174657 rs10911390
name:
Putative C->U-editing enzyme APOBEC-4 (EC 3.5.4.-) (Apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like 4)

sequence:

opentargets:
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines [GO:0016814]; zinc ion binding [GO:0008270]; mRNA processing [GO:0006397]


uniprotID: Q4LEZ3
geneSymbol: AARD
name: Alanine and arginine-rich domain-containing protein
length: 155
go: ENSG00000205002;
opentargets: lung development [GO:0030324]
snps: rs16889283
sequence:
MGPGDFRRCRERISQGLQGLPGRAELWFPPRPACDFFGDGRSTDIQEEALAASPLLEDLRRRLTRAFQWAVQRAISRRVQEAAAAAAAREEQSWTGVEATLARLRAELVEMHFQNHQLARTLLDLNMKVQQLKKEYELEITSDSQSPKDDAANPE


uniprotID: Q2M3G0
geneSymbol: ABCB5
reactome: R-HSA-382556;
name: ATP-binding cassette sub-family B member 5 (ABCB5 P-gp) (P-glycoprotein ABCB5)
length: 1257
go: ENSG00000004846;
drug: DB04851;
snps: rs2301641 rs13222448 rs35885925 rs17143304 rs6461515
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; efflux transmembrane transporter activity [GO:0015562]; xenobiotic transmembrane transporting ATPase activity [GO:0008559]; cell differentiation [GO:0030154]; compound eye corneal lens development [GO:0048058]; regulation of membrane potential [GO:0042391]; transmembrane transport [GO:0055085]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=4; IsoId=Q2M3G0-4; Sequence=Displayed; Name=2; Synonyms=ABCB5alpha; IsoId=Q2M3G0-2; Sequence=VSP_056752, VSP_056753, VSP_056756; Name=3; IsoId=Q2M3G0-3; Sequence=VSP_056752, VSP_056754, VSP_056755; Note=No experimental confirmation available.; Name=1; Synonyms=ABCB5beta; IsoId=Q2M3G0-1; Sequence=VSP_056752; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12960149}; Multi-pass membrane protein {ECO:0000255|PROSITE-ProRule:PRU00441, ECO:0000269|PubMed:12960149}.


uniprotID: Q96QU6
geneSymbol: ACCS
name: 1-aminocyclopropane-1-carboxylate synthase-like protein 1 (ACC synthase-like protein 1)
length: 501
go: ENSG00000110455;
drug: DB03214;
snps: rs33952257 rs2018795 rs35514614 rs3107275
sequence:

opentargets:
catalytic activity [GO:0003824]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; pyridoxal phosphate binding [GO:0030170]; 1-aminocyclopropane-1-carboxylate biosynthetic process [GO:0042218]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96QU6-1; Sequence=Displayed; Name=2; IsoId=Q96QU6-2; Sequence=VSP_055800, VSP_055801; Note=No experimental confirmation available.; 


uniprotID: Q86V21
geneSymbol: AACS
reactome: R-HSA-77111;
length: 672
go: ENSG00000081760;
snps: rs11549081 rs59883951
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250}.
name:
Acetoacetyl-CoA synthetase (EC 6.2.1.16) (Acyl-CoA synthetase family member 1) (Protein sur-5 homolog)

sequence:

opentargets:
cytosol [GO:0005829]; acetoacetate-CoA ligase activity [GO:0030729]; ATP binding [GO:0005524]; butyrate-CoA ligase activity [GO:0047760]; adipose tissue development [GO:0060612]; cellular response to cholesterol [GO:0071397]; cellular response to glucose stimulus [GO:0071333]; cellular response to testosterone stimulus [GO:0071394]; fatty acid metabolic process [GO:0006631]; ketone body biosynthetic process [GO:0046951]; liver development [GO:0001889]; positive regulation of insulin secretion [GO:0032024]; response to ethanol [GO:0045471]; response to nutrient [GO:0007584]; response to oleic acid [GO:0034201]; response to purine-containing compound [GO:0014074]; response to starvation [GO:0042594]; white fat cell differentiation [GO:0050872]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86V21-1; Sequence=Displayed; Name=2; IsoId=Q86V21-2; Sequence=VSP_030702; Note=No experimental confirmation available.; Name=3; IsoId=Q86V21-3; Sequence=VSP_030701; Note=No experimental confirmation available.; 


uniprotID: P30453
geneSymbol: HLA-A
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-6798695;R-HSA-877300;R-HSA-909733;R-HSA-983170;
length: 365
snps: rs1136688 rs1059509 rs1059516
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
HLA class I histocompatibility antigen, A-34 alpha chain (Aw-34) (HLA class I histocompatibility antigen, A-10 alpha chain) (MHC class I antigen A*34)

sequence:

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


uniprotID: P17174
geneSymbol: GOT1
reactome: R-HSA-1237112;R-HSA-70263;R-HSA-70614;
pdb: 3II0;3WZF;
length: 413
go: ENSG00000120053;
drug: DB00128;DB00151;DB00142;DB04299;DB00114;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:1974457}.
name:
Aspartate aminotransferase, cytoplasmic (cAspAT) (EC 2.6.1.1) (EC 2.6.1.3) (Cysteine aminotransferase, cytoplasmic) (Cysteine transaminase, cytoplasmic) (cCAT) (Glutamate oxaloacetate transaminase 1) (Transaminase A)

sequence:

opentargets:
axon terminus [GO:0043679]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; lysosome [GO:0005764]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; carboxylic acid binding [GO:0031406]; L-aspartate:2-oxoglutarate aminotransferase activity [GO:0004069]; L-cysteine:2-oxoglutarate aminotransferase activity [GO:0047801]; phosphatidylserine decarboxylase activity [GO:0004609]; pyridoxal phosphate binding [GO:0030170]; 2-oxoglutarate metabolic process [GO:0006103]; aspartate biosynthetic process [GO:0006532]; aspartate catabolic process [GO:0006533]; aspartate metabolic process [GO:0006531]; cellular amino acid biosynthetic process [GO:0008652]; cellular response to insulin stimulus [GO:0032869]; cellular response to mechanical stimulus [GO:0071260]; fatty acid homeostasis [GO:0055089]; gluconeogenesis [GO:0006094]; glutamate catabolic process to 2-oxoglutarate [GO:0019551]; glutamate catabolic process to aspartate [GO:0019550]; glutamate metabolic process [GO:0006536]; glycerol biosynthetic process [GO:0006114]; negative regulation of collagen biosynthetic process [GO:0032966]; negative regulation of cytosolic calcium ion concentration [GO:0051481]; negative regulation of mitochondrial depolarization [GO:0051902]; Notch signaling pathway [GO:0007219]; oxaloacetate metabolic process [GO:0006107]; positive regulation of transforming growth factor beta receptor signaling pathway [GO:0030511]; response to cadmium ion [GO:0046686]; response to carbohydrate [GO:0009743]; response to glucocorticoid [GO:0051384]; response to immobilization stress [GO:0035902]; response to transition metal nanoparticle [GO:1990267]; transdifferentiation [GO:0060290]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P17174-1; Sequence=Displayed; Name=2; IsoId=P17174-2; Sequence=VSP_055799; Note=No experimental confirmation available.; 


uniprotID: P30542
geneSymbol: ADORA1
reactome: R-HSA-417973;R-HSA-418594;
pdb: 5N2S;5UEN;6D9H;
name: Adenosine receptor A1
length: 326
go: ENSG00000163485;
snps: rs11547175 rs11547174 rs11547176 rs899207013 rs17852405 rs748346254
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:27134041}; Multi-pass membrane protein.
sequence:

opentargets:
axolemma [GO:0030673]; basolateral plasma membrane [GO:0016323]; calyx of Held [GO:0044305]; dendritic spine [GO:0043197]; endoplasmic reticulum [GO:0005783]; 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]; postsynaptic density [GO:0014069]; presynaptic active zone [GO:0048786]; terminal bouton [GO:0043195]; G protein-coupled adenosine receptor activity [GO:0001609]; G protein-coupled receptor binding [GO:0001664]; G-protein beta/gamma-subunit complex binding [GO:0031683]; heat shock protein binding [GO:0031072]; heterotrimeric G-protein binding [GO:0032795]; neurotransmitter receptor activity involved in regulation of presynaptic cytosolic calcium ion concentration [GO:0099582]; protein heterodimerization activity [GO:0046982]; purine nucleoside binding [GO:0001883]; activation of MAPKK activity [GO:0000186]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; apoptotic signaling pathway [GO:0097190]; cell-cell signaling [GO:0007267]; cognition [GO:0050890]; detection of temperature stimulus involved in sensory perception of pain [GO:0050965]; excitatory postsynaptic potential [GO:0060079]; fatty acid homeostasis [GO:0055089]; G protein-coupled receptor signaling pathway [GO:0007186]; inflammatory response [GO:0006954]; lipid catabolic process [GO:0016042]; negative regulation of acute inflammatory response [GO:0002674]; negative regulation of apoptotic process [GO:0043066]; negative regulation of blood vessel diameter [GO:0097756]; negative regulation of cell proliferation [GO:0008285]; negative regulation of circadian sleep/wake cycle, non-REM sleep [GO:0042323]; negative regulation of glutamate secretion [GO:0014050]; negative regulation of heart contraction [GO:0045822]; negative regulation of hormone secretion [GO:0046888]; negative regulation of leukocyte migration [GO:0002686]; negative regulation of lipid catabolic process [GO:0050995]; negative regulation of long-term synaptic depression [GO:1900453]; negative regulation of long-term synaptic potentiation [GO:1900272]; negative regulation of mucus secretion [GO:0070256]; negative regulation of neurotrophin production [GO:0032900]; negative regulation of renal sodium excretion [GO:0035814]; negative regulation of synaptic transmission, GABAergic [GO:0032229]; negative regulation of synaptic transmission, glutamatergic [GO:0051967]; negative regulation of systemic arterial blood pressure [GO:0003085]; nervous system development [GO:0007399]; phagocytosis [GO:0006909]; positive regulation of epidermal growth factor-activated receptor activity [GO:0045741]; positive regulation of lipid catabolic process [GO:0050996]; positive regulation of neuron death [GO:1901216]; positive regulation of nucleoside transport [GO:0032244]; positive regulation of peptide secretion [GO:0002793]; positive regulation of potassium ion transport [GO:0043268]; positive regulation of protein dephosphorylation [GO:0035307]; positive regulation of systemic arterial blood pressure [GO:0003084]; protein targeting to membrane [GO:0006612]; regulation of cardiac muscle cell contraction [GO:0086004]; regulation of glomerular filtration [GO:0003093]; regulation of respiratory gaseous exchange by neurological system process [GO:0002087]; regulation of sensory perception of pain [GO:0051930]; relaxation of vascular smooth muscle [GO:0060087]; response to hypoxia [GO:0001666]; signal transduction [GO:0007165]; temperature homeostasis [GO:0001659]; triglyceride homeostasis [GO:0070328]

drug:
DB00640;DB01223;DB00201;DB04932;DB00651;DB00824;DB00996;DB05360;DB06471;DB01303;DB00806;DB04954;DB01412;DB00277;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P30542-1; Sequence=Displayed; Name=2; IsoId=P30542-2; Sequence=VSP_034401, VSP_034402; 


uniprotID: Q4W5N1
geneSymbol: ABCA11P
name: Putative ATP-binding cassette sub-family A member 11
length: 156
sequence:
MKYGNEIMNKDPVFRISPRSRGTHTNPEEPEEDVQAERVQAANALTTPNLEEEPVITASCLHKEYYETKKVAFQQQRRKQPSEMFRFVLKSEVLGLLGHNGAGKSTSIKMITGCTVPTAGVVVLQGNRASVRQQRDNSLKFLGTALRRTHCVPNLQ

opentargets:
integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; ATP binding [GO:0005524]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; lipid transport [GO:0006869]


uniprotID: P30462
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-14 alpha chain (MHC class I antigen B*14)
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]; integral component of plasma membrane [GO:0005887]; MHC class I protein complex [GO:0042612]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; peptide antigen binding [GO:0042605]; TAP binding [GO:0046977]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent [GO:0002480]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; immune response [GO:0006955]; interferon-gamma-mediated signaling pathway [GO:0060333]; regulation of immune response [GO:0050776]; type I interferon signaling pathway [GO:0060337]

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


uniprotID: Q9H2F3
geneSymbol: HSD3B7
reactome: R-HSA-193368;R-HSA-193775;R-HSA-193807;
length: 369
go: ENSG00000099377;
snps: rs104894518 rs9938550 rs34212827
location: SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.
name:
3 beta-hydroxysteroid dehydrogenase type 7 (3 beta-hydroxysteroid dehydrogenase type VII) (3-beta-HSD VII) (3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase) (C(27) 3-beta-HSD) (EC 1.1.1.-) (Cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase) (EC 1.1.1.181)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; lipid droplet [GO:0005811]; 3-beta-hydroxy-delta5-steroid dehydrogenase activity [GO:0003854]; cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity [GO:0047016]; oxidoreductase activity [GO:0016491]; oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor [GO:0016616]; B cell chemotaxis [GO:0035754]; bile acid biosynthetic process [GO:0006699]; cholesterol catabolic process [GO:0006707]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H2F3-1; Sequence=Displayed; Name=2; IsoId=Q9H2F3-2; Sequence=VSP_042658; Note=No experimental confirmation available.; 


uniprotID: Q8N0Z2
geneSymbol: ABRA
name: Actin-binding Rho-activating protein (Striated muscle activator of Rho-dependent signaling) (STARS)
length: 381
go: ENSG00000174429;
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; plasma membrane [GO:0005886]; sarcomere [GO:0030017]; actin binding [GO:0003779]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of Rho protein signal transduction [GO:0035025]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; protein import into nucleus, translocation [GO:0000060]

location:
SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Note=Localized to the I-band of the sarcomere and to a lesser extent to the sarcomeric structure between Z-lines. {ECO:0000250}.


uniprotID: P45954
geneSymbol: ACADSB
reactome: R-HSA-70895;
pdb: 2JIF;
length: 432
go: ENSG00000196177;
drug: DB00167;DB00313;
snps: rs12263012 rs1799823 rs137852649 rs1131430 rs12357783
location: SUBCELLULAR LOCATION: Mitochondrion matrix.
name:
Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial (SBCAD) (EC 1.3.8.5) (2-methyl branched chain acyl-CoA dehydrogenase) (2-MEBCAD) (2-methylbutyryl-coenzyme A dehydrogenase) (2-methylbutyryl-CoA dehydrogenase)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; acyl-CoA dehydrogenase activity [GO:0003995]; flavin adenine dinucleotide binding [GO:0050660]; branched-chain amino acid catabolic process [GO:0009083]; fatty acid metabolic process [GO:0006631]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P45954-1; Sequence=Displayed; Name=2; IsoId=P45954-2; Sequence=VSP_055778; Note=No experimental confirmation available.; 


uniprotID: P00505
geneSymbol: GOT2
reactome: R-HSA-1614558;R-HSA-389661;R-HSA-70263;R-HSA-70614;
pdb: 5AX8;
length: 430
go: ENSG00000125166;
drug: DB02783;DB00128;DB00142;DB00114;
snps: rs11558171 rs11076256 rs30842 rs17849335
name:
Aspartate aminotransferase, mitochondrial (mAspAT) (EC 2.6.1.1) (EC 2.6.1.7) (Fatty acid-binding protein) (FABP-1) (Glutamate oxaloacetate transaminase 2) (Kynurenine aminotransferase 4) (Kynurenine aminotransferase IV) (Kynurenine--oxoglutarate transaminase 4) (Kynurenine--oxoglutarate transaminase IV) (Plasma membrane-associated fatty acid-binding protein) (FABPpm) (Transaminase A)

sequence:

opentargets:
cell surface [GO:0009986]; extracellular exosome [GO:0070062]; mitochondrial inner membrane [GO:0005743]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; T-tubule [GO:0030315]; 4-hydroxyglutamate transaminase activity [GO:0047578]; amino acid binding [GO:0016597]; enzyme binding [GO:0019899]; kynurenine-oxoglutarate transaminase activity [GO:0016212]; L-aspartate:2-oxoglutarate aminotransferase activity [GO:0004069]; phospholipid binding [GO:0005543]; protein homodimerization activity [GO:0042803]; pyridoxal phosphate binding [GO:0030170]; RNA binding [GO:0003723]; 2-oxoglutarate metabolic process [GO:0006103]; 4-hydroxyproline catabolic process [GO:0019470]; aspartate biosynthetic process [GO:0006532]; aspartate catabolic process [GO:0006533]; aspartate metabolic process [GO:0006531]; cellular amino acid biosynthetic process [GO:0008652]; fatty acid transport [GO:0015908]; female pregnancy [GO:0007565]; gluconeogenesis [GO:0006094]; glutamate catabolic process to 2-oxoglutarate [GO:0019551]; glutamate catabolic process to aspartate [GO:0019550]; glutamate metabolic process [GO:0006536]; glyoxylate metabolic process [GO:0046487]; lactation [GO:0007595]; oxaloacetate metabolic process [GO:0006107]; response to ethanol [GO:0045471]; response to insulin [GO:0032868]; response to morphine [GO:0043278]; response to muscle activity [GO:0014850]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P00505-1; Sequence=Displayed; Name=2; IsoId=P00505-2; Sequence=VSP_054848; 

location:
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:9537447}. Cell membrane {ECO:0000269|PubMed:9537447}. Note=Exposure to alcohol promotes translocation to the cell membrane.


uniprotID: P28223
geneSymbol: HTR2A
reactome: R-HSA-390666;R-HSA-416476;
name: 5-hydroxytryptamine receptor 2A (5-HT-2) (5-HT-2A) (Serotonin receptor 2A)
length: 471
go: ENSG00000102468;
snps: rs1805055 rs6304 rs6308 rs6314
sequence:

opentargets:
axon [GO:0030424]; caveola [GO:0005901]; cell body fiber [GO:0070852]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; dendrite [GO:0030425]; dendritic shaft [GO:0043198]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic membrane [GO:0099055]; integral component of presynaptic membrane [GO:0099056]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding [GO:0071886]; drug binding [GO:0008144]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled serotonin receptor activity [GO:0004993]; G-protein alpha-subunit binding [GO:0001965]; neurotransmitter receptor activity [GO:0030594]; protein-containing complex binding [GO:0044877]; serotonin binding [GO:0051378]; virus receptor activity [GO:0001618]; activation of phospholipase C activity [GO:0007202]; aging [GO:0007568]; artery smooth muscle contraction [GO:0014824]; behavioral response to cocaine [GO:0048148]; cell death [GO:0008219]; cellular calcium ion homeostasis [GO:0006874]; chemical synaptic transmission [GO:0007268]; detection of mechanical stimulus involved in sensory perception of pain [GO:0050966]; detection of temperature stimulus involved in sensory perception of pain [GO:0050965]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; memory [GO:0007613]; negative regulation of potassium ion transport [GO:0043267]; negative regulation of synaptic transmission, glutamatergic [GO:0051967]; phosphatidylinositol 3-kinase signaling [GO:0014065]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; phospholipase C-activating serotonin receptor signaling pathway [GO:0007208]; positive regulation of cell proliferation [GO:0008284]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of fat cell differentiation [GO:0045600]; positive regulation of glycolytic process [GO:0045821]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of phosphatidylinositol biosynthetic process [GO:0010513]; positive regulation of vasoconstriction [GO:0045907]; protein localization to cytoskeleton [GO:0044380]; regulation of dopamine secretion [GO:0014059]; regulation of synaptic vesicle exocytosis [GO:2000300]; release of sequestered calcium ion into cytosol [GO:0051209]; response to drug [GO:0042493]; serotonin receptor signaling pathway [GO:0007210]; sleep [GO:0030431]; temperature homeostasis [GO:0001659]; urinary bladder smooth muscle contraction [GO:0014832]

drug:
DB01614;DB06288;DB00321;DB00543;DB08927;DB04599;DB05026;DB05227;DB00714;DB01238;DB06216;DB05687;DB09128;DB01200;DB09016;DB00248;DB06016;DB00477;DB01239;DB08810;DB00604;DB01242;DB00363;DB00924;DB00434;DB06512;DB01151;DB01488;DB00843;DB01142;DB05492;DB00751;DB01049;DB00696;DB06678;DB04908;DB00875;DB04842;DB00502;DB05079;DB04946;DB00458;DB01221;DB00589;DB00408;DB06077;DB08815;DB05743;DB00934;DB00933;DB01403;DB00247;DB06148;DB00805;DB00370;DB01442;DB01618;DB01149;DB00540;DB00334;DB01267;DB00715;DB01186;DB05316;DB01621;DB00413;DB00420;DB01069;DB00777;DB01224;DB00409;DB00734;DB00268;DB06144;DB01079;DB01622;DB00679;DB01623;DB13025;DB00656;DB00726;DB01392;DB00246;DB01624;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P28223-1; Sequence=Displayed; Name=2; IsoId=P28223-2; Sequence=VSP_046663; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:28129538}; Multi-pass membrane protein {ECO:0000305}. Cell projection, dendrite {ECO:0000250}. Cell projection, axon {ECO:0000250|UniProtKB:P14842}. Cytoplasmic vesicle {ECO:0000250|UniProtKB:P14842}. Membrane, caveola {ECO:0000250|UniProtKB:P14842}. Note=Localizes to the postsynaptic thickening of axo-dendritic synapses. {ECO:0000250}.


uniprotID: Q13685
geneSymbol: AAMP
name: Angio-associated migratory cell protein
length: 434
go: ENSG00000127837;
snps: rs2305835
location: SUBCELLULAR LOCATION: Cell membrane. Cytoplasm.
sequence:

opentargets:
cell surface [GO:0009986]; cytosol [GO:0005829]; intercellular bridge [GO:0045171]; microtubule cytoskeleton [GO:0015630]; plasma membrane [GO:0005886]; heparin binding [GO:0008201]; unfolded protein binding [GO:0051082]; angiogenesis [GO:0001525]; cell differentiation [GO:0030154]; positive regulation of endothelial cell migration [GO:0010595]; ribosomal large subunit biogenesis [GO:0042273]; smooth muscle cell migration [GO:0014909]


uniprotID: Q9NYB9
geneSymbol: ABI2
reactome: R-HSA-2029482;R-HSA-4420097;R-HSA-5663213;
pdb: 2ED0;3P8C;4N78;
length: 513
go: ENSG00000138443;
name:
Abl interactor 2 (Abelson interactor 2) (Abi-2) (Abl-binding protein 3) (AblBP3) (Arg-binding protein 1) (ArgBP1)

sequence:

opentargets:
cell-cell adherens junction [GO:0005913]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; dendrite [GO:0030425]; filopodium tip [GO:0032433]; lamellipodium [GO:0030027]; nucleus [GO:0005634]; SCAR complex [GO:0031209]; cytoskeletal adaptor activity [GO:0008093]; DNA binding [GO:0003677]; kinase binding [GO:0019900]; proline-rich region binding [GO:0070064]; protein-containing complex binding [GO:0044877]; SH3 domain binding [GO:0017124]; ubiquitin protein ligase binding [GO:0031625]; actin polymerization or depolymerization [GO:0008154]; camera-type eye development [GO:0043010]; cell migration [GO:0016477]; cytoskeleton organization [GO:0007010]; dendrite development [GO:0016358]; learning or memory [GO:0007611]; peptidyl-tyrosine phosphorylation [GO:0018108]; positive regulation of Arp2/3 complex-mediated actin nucleation [GO:2000601]; Rac protein signal transduction [GO:0016601]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Abi-2b; IsoId=Q9NYB9-1; Sequence=Displayed; Name=2; IsoId=Q9NYB9-2; Sequence=VSP_010761, VSP_010762, VSP_010763; Name=3; Synonyms=Abi-2a; IsoId=Q9NYB9-3; Sequence=VSP_010759, VSP_010760, VSP_010761, VSP_010762; Name=4; IsoId=Q9NYB9-4; Sequence=VSP_010761; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11516653, ECO:0000269|PubMed:7590236, ECO:0000269|PubMed:8649853}. Nucleus {ECO:0000269|PubMed:7590236}.; SUBCELLULAR LOCATION: Isoform 1: Cell projection, lamellipodium {ECO:0000269|PubMed:11516653, ECO:0000269|PubMed:15572692}. Cell projection, filopodium {ECO:0000269|PubMed:11516653}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:15572692}. Cell junction, adherens junction {ECO:0000269|PubMed:15572692}. Note=Isoform 1 but not isoform 3 is localized to protruding lamellipodia and filopodia tips (PubMed:11516653, PubMed:15572692). Present at nascent adherens junctions, where it clusters adjacent to the tips of F-actin protrusions (PubMed:15572692). {ECO:0000269|PubMed:11516653, ECO:0000269|PubMed:15572692}.


uniprotID: Q05901
geneSymbol: CHRNB3
reactome: R-HSA-629594;R-HSA-629597;
name: Neuronal acetylcholine receptor subunit beta-3
length: 458
go: ENSG00000147432;
drug: DB00898;DB00674;DB00184;
snps: rs35327613
sequence:

opentargets:
acetylcholine-gated channel complex [GO:0005892]; cell junction [GO:0030054]; dopaminergic synapse [GO:0098691]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; synapse [GO:0045202]; acetylcholine-gated cation-selective channel activity [GO:0022848]; channel activity [GO:0015267]; ligand-gated ion channel activity [GO:0015276]; transmembrane signaling receptor activity [GO:0004888]; chemical synaptic transmission [GO:0007268]; ion transmembrane transport [GO:0034220]; nervous system process [GO:0050877]; neuromuscular synaptic transmission [GO:0007274]; regulation of membrane potential [GO:0042391]; regulation of synaptic vesicle exocytosis [GO:2000300]; response to nicotine [GO:0035094]; signal transduction [GO:0007165]; synaptic transmission, cholinergic [GO:0007271]


uniprotID: Q07000
geneSymbol: HLA-C
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
name: HLA class I histocompatibility antigen, Cw-15 alpha chain (MHC class I antigen Cw*15)
length: 366
snps: rs1050409 rs1065382 rs1131103 rs1050276
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:


uniprotID: Q5QJU3
geneSymbol: ACER2
reactome: R-HSA-1660661;
length: 275
go: ENSG00000177076;
snps: rs10964136
name:
Alkaline ceramidase 2 (AlkCDase 2) (Alkaline CDase 2) (haCER2) (EC 3.5.1.23) (Acylsphingosine deacylase 3-like) (N-acylsphingosine amidohydrolase 3-like)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of Golgi membrane [GO:0030173]; ceramidase activity [GO:0102121]; dihydroceramidase activity [GO:0071633]; N-acylsphingosine amidohydrolase activity [GO:0017040]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; cellular response to drug [GO:0035690]; ceramide metabolic process [GO:0006672]; negative regulation of cell adhesion mediated by integrin [GO:0033629]; negative regulation of cell-matrix adhesion [GO:0001953]; negative regulation of protein glycosylation in Golgi [GO:0090285]; positive regulation of cell death [GO:0010942]; positive regulation of cell proliferation [GO:0008284]; response to retinoic acid [GO:0032526]; sphingolipid biosynthetic process [GO:0030148]; sphingosine biosynthetic process [GO:0046512]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5QJU3-1; Sequence=Displayed; Name=2; IsoId=Q5QJU3-2; Sequence=VSP_020033; Name=3; IsoId=Q5QJU3-3; Sequence=VSP_020033, VSP_020034, VSP_020035; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:16940153, ECO:0000269|PubMed:20089856}; Multi-pass membrane protein {ECO:0000269|PubMed:16940153, ECO:0000269|PubMed:20089856}.


uniprotID: P13746
geneSymbol: HLA-A
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
pdb: 1Q94;1QVO;1X7Q;2HN7;4MJ5;4MJ6;4N8V;4UQ2;5GRD;5GRG;5GSD;5WJL;5WJN;5WKF;5WKH;
name: HLA class I histocompatibility antigen, A-11 alpha chain (MHC class I antigen A*11)
length: 365
snps: rs199474430 rs78306866 rs1136688 rs1136702 rs1059488 rs1059509 rs1059516 rs1059520 rs17185861
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
cell surface [GO:0009986]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; integral component of plasma membrane [GO:0005887]; MHC class I protein complex [GO:0042612]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; beta-2-microglobulin binding [GO:0030881]; peptide antigen binding [GO:0042605]; TAP binding [GO:0046977]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent [GO:0002480]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; immune response [GO:0006955]; interferon-gamma-mediated signaling pathway [GO:0060333]; protection from natural killer cell mediated cytotoxicity [GO:0042270]; regulation of immune response [GO:0050776]; type I interferon signaling pathway [GO:0060337]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P13746-1; Sequence=Displayed; Name=2; Synonyms=Long; IsoId=P13746-2; Sequence=VSP_008099; Note=Only produced by allele A*1103.; 


uniprotID: Q0P651
geneSymbol: ABHD18
length: 414
go: ENSG00000164074;
opentargets: extracellular region [GO:0005576]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Protein ABHD18 (Alpha/beta hydrolase domain-containing protein 18) (Abhydrolase domain-containing protein 18)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q0P651-1; Sequence=Displayed; Name=2; IsoId=Q0P651-2; Sequence=VSP_027893; Note=No experimental confirmation available.; Name=3; IsoId=Q0P651-3; Sequence=VSP_027892, VSP_027894; Note=No experimental confirmation available.; Name=4; IsoId=Q0P651-4; Sequence=VSP_027891, VSP_027894; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: P10314
geneSymbol: HLA-A
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
name: HLA class I histocompatibility antigen, A-32 alpha chain (MHC class I antigen A*32)
length: 365
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

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

snps:
rs199474430 rs2231004 rs1136695 rs1136700 rs1059488 rs3173420 rs1059509 rs1059516 rs1059517 rs1059536 rs9256983 rs1059542 


uniprotID: Q8N5Z0
geneSymbol: AADAT
reactome: R-HSA-71064;R-HSA-71240;
pdb: 2QLR;2R2N;2VGZ;2XH1;3DC1;3UE8;4GDY;4GE4;4GE7;4GE9;4GEB;5EFS;5EUN;5TF5;6D0A;
length: 425
go: ENSG00000109576;
drug: DB00142;DB00114;
snps: rs56350236
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
name:
Kynurenine/alpha-aminoadipate aminotransferase, mitochondrial (KAT/AadAT) (2-aminoadipate aminotransferase) (2-aminoadipate transaminase) (EC 2.6.1.39) (Alpha-aminoadipate aminotransferase) (AadAT) (Kynurenine aminotransferase II) (Kynurenine--oxoglutarate aminotransferase II) (Kynurenine--oxoglutarate transaminase 2) (EC 2.6.1.7) (Kynurenine--oxoglutarate transaminase II)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; 2-aminoadipate transaminase activity [GO:0047536]; kynurenine-oxoglutarate transaminase activity [GO:0016212]; protein homodimerization activity [GO:0042803]; pyridoxal phosphate binding [GO:0030170]; 2-oxoglutarate metabolic process [GO:0006103]; biosynthetic process [GO:0009058]; glutamate metabolic process [GO:0006536]; kynurenine metabolic process [GO:0070189]; L-lysine catabolic process to acetyl-CoA via saccharopine [GO:0033512]; lysine catabolic process [GO:0006554]; tryptophan catabolic process [GO:0006569]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N5Z0-1; Sequence=Displayed; Note=May be due to a competing donor splice site.; Name=2; IsoId=Q8N5Z0-2; Sequence=VSP_009874; 


uniprotID: P05067
geneSymbol: APP
length: 770
go: ENSG00000142192;
drug: DB05150;DB09148;DB09149;DB09151;DB02235;DB05846;
reactome:
R-HSA-114608;R-HSA-3000178;R-HSA-381426;R-HSA-416476;R-HSA-418594;R-HSA-432720;R-HSA-444473;R-HSA-445989;R-HSA-844456;R-HSA-879415;R-HSA-8862803;R-HSA-8957275;R-HSA-933542;R-HSA-977225;

pdb:
1AAP;1AMB;1AMC;1AML;1BA4;1BA6;1BJB;1BJC;1BRC;1CA0;1HZ3;1IYT;1MWP;1OWT;1QCM;1QWP;1QXC;1QYT;1TAW;1TKN;1UO7;1UO8;1UOA;1UOI;1X11;1Z0Q;1ZE7;1ZE9;1ZJD;2BEG;2BOM;2BP4;2FJZ;2FK1;2FK2;2FK3;2FKL;2FMA;2G47;2IPU;2LFM;2LLM;2LMN;2LMO;2LMP;2LMQ;2LNQ;2LOH;2LP1;2LZ3;2LZ4;2M4J;2M9R;2M9S;2MGT;2MJ1;2MPZ;2MVX;2MXU;2NAO;2OTK;2R0W;2WK3;2Y29;2Y2A;2Y3J;2Y3K;2Y3L;3AYU;3BAE;3BKJ;3DXC;3DXD;3DXE;3GCI;3IFL;3IFN;3IFO;3IFP;3JQ5;3JQL;3JTI;3KTM;3L33;3L81;3MOQ;3MXC;3MXY;3NYJ;3NYL;3OVJ;3OW9;3PZZ;3Q2X;3SV1;3U0T;3UMH;3UMI;3UMK;4HIX;4JFN;4M1C;4MDR;4MVI;4MVK;4MVL;4NGE;4OJF;4ONF;4ONG;4PQD;4PWQ;4XXD;5AEF;5AM8;5AMB;5BUO;5C67;5CSZ;5HOW;5HOX;5HOY;5KK3;5LFY;5LV0;5MY4;5MYO;5MYX;5OQV;5TXD;5VOS;5VZY;5W3P;6CO3;6GFI;

name:
Amyloid-beta A4 protein (ABPP) (APPI) (APP) (Alzheimer disease amyloid protein) (Amyloid precursor protein) (Amyloid-beta precursor protein) (Cerebral vascular amyloid peptide) (CVAP) (PreA4) (Protease nexin-II) (PN-II) [Cleaved into: N-APP; Soluble APP-alpha (S-APP-alpha); Soluble APP-beta (S-APP-beta); C99 (Beta-secretase C-terminal fragment) (Beta-CTF); Amyloid-beta protein 42 (Abeta42) (Beta-APP42); Amyloid-beta protein 40 (Abeta40) (Beta-APP40); C83 (Alpha-secretase C-terminal fragment) (Alpha-CTF); P3(42); P3(40); C80; Gamma-secretase C-terminal fragment 59 (Amyloid intracellular domain 59) (AICD-59) (AID(59)) (Gamma-CTF(59)); Gamma-secretase C-terminal fragment 57 (Amyloid intracellular domain 57) (AICD-57) (AID(57)) (Gamma-CTF(57)); Gamma-secretase C-terminal fragment 50 (Amyloid intracellular domain 50) (AICD-50) (AID(50)) (Gamma-CTF(50)); C31]

sequence:

opentargets:
amyloid-beta complex [GO:0106003]; apical part of cell [GO:0045177]; astrocyte projection [GO:0097449]; axon [GO:0030424]; cell surface [GO:0009986]; cell-cell junction [GO:0005911]; ciliary rootlet [GO:0035253]; clathrin-coated pit [GO:0005905]; COPII-coated ER to Golgi transport vesicle [GO:0030134]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendritic shaft [GO:0043198]; dendritic spine [GO:0043197]; early endosome [GO:0005769]; endoplasmic reticulum lumen [GO:0005788]; endosome [GO:0005768]; endosome lumen [GO:0031904]; endosome to plasma membrane transport vesicle [GO:0070381]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; Golgi lumen [GO:0005796]; growth cone filopodium [GO:1990812]; growth cone lamellipodium [GO:1990761]; high-density lipoprotein particle [GO:0034364]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; intermediate-density lipoprotein particle [GO:0034363]; intracellular [GO:0005622]; lipoprotein particle [GO:1990777]; main axon [GO:0044304]; membrane [GO:0016020]; membrane raft [GO:0045121]; neuromuscular junction [GO:0031594]; nuclear envelope lumen [GO:0005641]; perikaryon [GO:0043204]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; platelet alpha granule lumen [GO:0031093]; presynaptic active zone [GO:0048786]; protein-containing complex [GO:0032991]; receptor complex [GO:0043235]; rough endoplasmic reticulum [GO:0005791]; smooth endoplasmic reticulum [GO:0005790]; spindle midzone [GO:0051233]; synapse [GO:0045202]; trans-Golgi network membrane [GO:0032588]; acetylcholine receptor activator activity [GO:0030549]; acetylcholine receptor binding [GO:0033130]; amylin binding [GO:0097645]; apolipoprotein binding [GO:0034185]; chaperone binding [GO:0051087]; chemoattractant activity [GO:0042056]; DNA binding [GO:0003677]; enzyme binding [GO:0019899]; ephrin receptor binding [GO:0046875]; frizzled binding [GO:0005109]; growth factor receptor binding [GO:0070851]; heparan sulfate binding [GO:1904399]; heparan sulfate proteoglycan binding [GO:0043395]; heparin binding [GO:0008201]; identical protein binding [GO:0042802]; insulin receptor binding [GO:0005158]; integrin binding [GO:0005178]; low-density lipoprotein particle receptor binding [GO:0050750]; peptidase activator activity [GO:0016504]; protein dimerization activity [GO:0046983]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; PTB domain binding [GO:0051425]; receptor activator activity [GO:0030546]; serine-type endopeptidase inhibitor activity [GO:0004867]; signaling receptor binding [GO:0005102]; transition metal ion binding [GO:0046914]; activation of MAPK activity [GO:0000187]; activation of MAPKKK activity [GO:0000185]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; adult locomotory behavior [GO:0008344]; amyloid fibril formation [GO:1990000]; antibacterial humoral response [GO:0019731]; antifungal humoral response [GO:0019732]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; associative learning [GO:0008306]; astrocyte activation [GO:0048143]; astrocyte activation involved in immune response [GO:0002265]; axo-dendritic transport [GO:0008088]; axon midline choice point recognition [GO:0016199]; axonogenesis [GO:0007409]; calcium-mediated signaling [GO:0019722]; cell adhesion [GO:0007155]; cellular copper ion homeostasis [GO:0006878]; cellular process [GO:0009987]; cellular protein metabolic process [GO:0044267]; cellular response to amyloid-beta [GO:1904646]; cellular response to cAMP [GO:0071320]; cellular response to copper ion [GO:0071280]; cellular response to manganese ion [GO:0071287]; cellular response to nerve growth factor stimulus [GO:1990090]; cellular response to norepinephrine stimulus [GO:0071874]; cholesterol metabolic process [GO:0008203]; collateral sprouting in absence of injury [GO:0048669]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; dendrite development [GO:0016358]; endocytosis [GO:0006897]; extracellular matrix organization [GO:0030198]; forebrain development [GO:0030900]; G protein-coupled receptor signaling pathway [GO:0007186]; innate immune response [GO:0045087]; ionotropic glutamate receptor signaling pathway [GO:0035235]; learning [GO:0007612]; learning or memory [GO:0007611]; lipoprotein metabolic process [GO:0042157]; locomotory behavior [GO:0007626]; mating behavior [GO:0007617]; memory [GO:0007613]; microglia development [GO:0014005]; microglial cell activation [GO:0001774]; modulation of age-related behavioral decline [GO:0090647]; modulation of excitatory postsynaptic potential [GO:0098815]; mRNA polyadenylation [GO:0006378]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cell proliferation [GO:0008285]; negative regulation of gene expression [GO:0010629]; negative regulation of long-term synaptic potentiation [GO:1900272]; negative regulation of mitochondrion organization [GO:0010823]; negative regulation of neuron death [GO:1901215]; negative regulation of neuron differentiation [GO:0045665]; negative regulation of pri-miRNA transcription by RNA polymerase II [GO:1902894]; negative regulation of protein localization to nucleus [GO:1900181]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neuromuscular process controlling balance [GO:0050885]; neuron apoptotic process [GO:0051402]; neuron projection development [GO:0031175]; neuron projection maintenance [GO:1990535]; neuron remodeling [GO:0016322]; Notch signaling pathway [GO:0007219]; platelet degranulation [GO:0002576]; positive regulation of 1-phosphatidylinositol-3-kinase activity [GO:0061903]; positive regulation of amyloid fibril formation [GO:1905908]; positive regulation of amyloid-beta formation [GO:1902004]; positive regulation of apoptotic process [GO:0043065]; positive regulation of astrocyte activation [GO:0061890]; positive regulation of cell activation [GO:0050867]; positive regulation of cellular response to thapsigargin [GO:1905893]; positive regulation of cellular response to tunicamycin [GO:1905896]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of excitatory postsynaptic potential [GO:2000463]; positive regulation of G protein-coupled receptor internalization [GO:1904022]; positive regulation of G protein-coupled receptor signaling pathway [GO:0045745]; positive regulation of G2/M transition of mitotic cell cycle [GO:0010971]; positive regulation of gene expression [GO:0010628]; positive regulation of JNK cascade [GO:0046330]; positive regulation of long-term synaptic potentiation [GO:1900273]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of membrane protein ectodomain proteolysis [GO:0051044]; positive regulation of microglial cell activation [GO:1903980]; positive regulation of mitotic cell cycle [GO:0045931]; positive regulation of monocyte chemotaxis [GO:0090026]; positive regulation of neuron apoptotic process [GO:0043525]; positive regulation of neuron death [GO:1901216]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; positive regulation of nitric oxide biosynthetic process [GO:0045429]; positive regulation of oxidative stress-induced neuron death [GO:1903223]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of peptidyl-threonine phosphorylation [GO:0010800]; positive regulation of phosphorylation [GO:0042327]; positive regulation of protein binding [GO:0032092]; positive regulation of protein import [GO:1904591]; positive regulation of protein kinase A signaling [GO:0010739]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of protein metabolic process [GO:0051247]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of protein tyrosine kinase activity [GO:0061098]; positive regulation of receptor binding [GO:1900122]; positive regulation of response to endoplasmic reticulum stress [GO:1905898]; positive regulation of superoxide anion generation [GO:0032930]; positive regulation of T cell migration [GO:2000406]; positive regulation of tau-protein kinase activity [GO:1902949]; positive regulation of transcription by RNA polymerase II [GO:0045944]; post-translational protein modification [GO:0043687]; protein homooligomerization [GO:0051260]; protein phosphorylation [GO:0006468]; protein tetramerization [GO:0051262]; protein trimerization [GO:0070206]; regulation of acetylcholine-gated cation channel activity [GO:1903048]; regulation of amyloid fibril formation [GO:1905906]; regulation of dendritic spine maintenance [GO:1902950]; regulation of epidermal growth factor-activated receptor activity [GO:0007176]; regulation of gene expression [GO:0010468]; regulation of long-term neuronal synaptic plasticity [GO:0048169]; regulation of multicellular organism growth [GO:0040014]; regulation of NMDA receptor activity [GO:2000310]; regulation of peptidyl-tyrosine phosphorylation [GO:0050730]; regulation of presynapse assembly [GO:1905606]; regulation of response to calcium ion [GO:1905945]; regulation of spontaneous synaptic transmission [GO:0150003]; regulation of synapse structure or activity [GO:0050803]; regulation of toll-like receptor signaling pathway [GO:0034121]; regulation of translation [GO:0006417]; regulation of Wnt signaling pathway [GO:0030111]; response to lead ion [GO:0010288]; response to oxidative stress [GO:0006979]; response to yeast [GO:0001878]; smooth endoplasmic reticulum calcium ion homeostasis [GO:0051563]; suckling behavior [GO:0001967]; synapse organization [GO:0050808]; synaptic growth at neuromuscular junction [GO:0051124]; tumor necrosis factor production [GO:0032640]; visual learning [GO:0008542]

snps:
rs45588932 rs63750363 rs281865161 rs63750064 rs63750671 rs63751039 rs63750579 rs63750579 rs63749810 rs63750921 rs63750066 rs1800557 rs63750643 rs63750973 rs63750734 rs63750399 rs63750264 rs63749964 rs63750264 rs63750264 rs63751122 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=11;  Comment=Additional isoforms seem to exist. Experimental confirmation may be lacking for some isoforms.; Name=APP770; Synonyms=PreA4 770; IsoId=P05067-1; Sequence=Displayed; Note=A major isoform.; Name=APP305; IsoId=P05067-2; Sequence=VSP_000005, VSP_000006; Name=L-APP677; IsoId=P05067-3; Sequence=VSP_000002, VSP_000004, VSP_000009; Note=The L-isoforms are referred to as appicans.; Name=APP695; Synonyms=PreA4 695; IsoId=P05067-4; Sequence=VSP_000002, VSP_000004; Note=A major isoform.; Name=L-APP696; IsoId=P05067-5; Sequence=VSP_000002, VSP_000003, VSP_000009; Note=The L-isoforms are referred to as appicans.; Name=APP714; IsoId=P05067-6; Sequence=VSP_000002, VSP_000003; Name=L-APP733; IsoId=P05067-7; Sequence=VSP_000007, VSP_000008, VSP_000009; Note=The L-isoforms are referred to as appicans.; Name=APP751; Synonyms=PreA4 751; IsoId=P05067-8; Sequence=VSP_000007, VSP_000008; Note=A major isoform.; Name=L-APP752; IsoId=P05067-9; Sequence=VSP_000009; Name=APP639; IsoId=P05067-10; Sequence=VSP_009116, VSP_009117, VSP_009118; Name=11; IsoId=P05067-11; Sequence=VSP_045446, VSP_045447; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10383380, ECO:0000269|PubMed:20580937, ECO:0000305|PubMed:25122912}; Single-pass type I membrane protein {ECO:0000305|PubMed:10383380, ECO:0000305|PubMed:25122912}. Membrane {ECO:0000269|PubMed:2900137, ECO:0000305|PubMed:22584060}; Single-pass type I membrane protein {ECO:0000269|PubMed:2900137, ECO:0000305|PubMed:22584060}. Perikaryon {ECO:0000269|PubMed:10341243}. Cell projection, growth cone {ECO:0000269|PubMed:10341243}. Membrane, clathrin-coated pit {ECO:0000269|PubMed:20580937}. Early endosome {ECO:0000269|PubMed:20580937}. Cytoplasmic vesicle {ECO:0000269|PubMed:20580937, ECO:0000269|PubMed:25122912}. Note=Cell surface protein that rapidly becomes internalized via clathrin-coated pits. Only a minor proportion is present at the cell membrane; most of the protein is present in intracellular vesicles (PubMed:20580937). During maturation, the immature APP (N-glycosylated in the endoplasmic reticulum) moves to the Golgi complex where complete maturation occurs (O-glycosylated and sulfated). After alpha-secretase cleavage, soluble APP is released into the extracellular space and the C-terminal is internalized to endosomes and lysosomes. Some APP accumulates in secretory transport vesicles leaving the late Golgi compartment and returns to the cell surface. Gamma-CTF(59) peptide is located to both the cytoplasm and nuclei of neurons. It can be translocated to the nucleus through association with APBB1 (Fe65). Amyloid-beta protein 42 associates with FRPL1 at the cell surface and the complex is then rapidly internalized. APP sorts to the basolateral surface in epithelial cells. During neuronal differentiation, the Thr-743 phosphorylated form is located mainly in growth cones, moderately in neurites and sparingly in the cell body (PubMed:10341243). Casein kinase phosphorylation can occur either at the cell surface or within a post-Golgi compartment. Associates with GPC1 in perinuclear compartments. Colocalizes with SORL1 in a vesicular pattern in cytoplasm and perinuclear regions. {ECO:0000269|PubMed:10341243, ECO:0000269|PubMed:20580937}.


uniprotID: P27348
geneSymbol: YWHAQ
reactome: R-HSA-111447;R-HSA-1445148;R-HSA-5625740;R-HSA-5628897;R-HSA-75035;
pdb: 2BTP;5IQP;
name: 14-3-3 protein theta (14-3-3 protein T-cell) (14-3-3 protein tau) (Protein HS1)
length: 245
go: ENSG00000134308;
location: SUBCELLULAR LOCATION: Cytoplasm. Note=In neurons, axonally transported to the nerve terminals.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; membrane [GO:0016020]; mitochondrion [GO:0005739]; protein-containing complex [GO:0032991]; synapse [GO:0045202]; 14-3-3 protein binding [GO:0071889]; identical protein binding [GO:0042802]; ion channel binding [GO:0044325]; protein C-terminus binding [GO:0008022]; protein domain specific binding [GO:0019904]; protein N-terminus binding [GO:0047485]; membrane organization [GO:0061024]; negative regulation of ion transmembrane transport [GO:0034766]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway [GO:1900740]; substantia nigra development [GO:0021762]


uniprotID: Q13639
geneSymbol: HTR4
reactome: R-HSA-390666;R-HSA-418555;
pdb: 5EM9;
name: 5-hydroxytryptamine receptor 4 (5-HT-4) (5-HT4) (Serotonin receptor 4)
length: 388
go: ENSG00000164270;
drug: DB08810;DB00604;DB01049;DB01233;DB00904;DB04873;DB06480;DB04917;DB05905;DB05655;DB01079;DB13025;
snps: rs199508638 rs34826744
sequence:

opentargets:
cytoplasm [GO:0005737]; dendrite [GO:0030425]; endosome [GO:0005768]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled serotonin receptor activity [GO:0004993]; neurotransmitter receptor activity [GO:0030594]; 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]; regulation of appetite [GO:0032098]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Comment=Additional isoforms seem to exist.; Name=5-HT4(B); IsoId=Q13639-1; Sequence=Displayed; Name=5-HT4(A); Synonyms=5-HT4S; IsoId=Q13639-2; Sequence=VSP_001849; Name=5-HT4(C); IsoId=Q13639-3; Sequence=VSP_001848; Name=5-HT4(D); IsoId=Q13639-4; Sequence=VSP_001847; Name=5-HT4(E); Synonyms=H5-HT4(g); IsoId=Q13639-5; Sequence=VSP_001846; Note=Mainly expressed in atria and cardiac ventricle.; Name=5-HT4(F); IsoId=Q13639-6; Sequence=VSP_001845; Name=5-HT4(G); IsoId=Q13639-7; Sequence=VSP_001850; Name=5-HT4(I); IsoId=Q13639-8; Sequence=VSP_043316; Note=Expressed in all cardiovascular tissues analyzed.; Name=5-HT4c1; IsoId=Q13639-9; Sequence=VSP_047862; 

location:
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Endosome. Note=Interaction with SNX27 mediates recruitment to early endosomes, while interaction with SLC9A3R1 and EZR might target the protein to specialized subcellular regions, such as microvilli. {ECO:0000250}.


uniprotID: Q8IZ83
geneSymbol: ALDH16A1
name: Aldehyde dehydrogenase family 16 member A1
length: 802
go: ENSG00000161618;
snps: rs3745312 rs1320303
sequence:

opentargets:
membrane [GO:0016020]; oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor [GO:0016620]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IZ83-1; Sequence=Displayed; Name=2; IsoId=Q8IZ83-2; Sequence=VSP_029982, VSP_029983; Note=No experimental confirmation available.; Name=3; IsoId=Q8IZ83-3; Sequence=VSP_043280; Note=No experimental confirmation available.; 


uniprotID: Q6PCB6
geneSymbol: ABHD17C
length: 329
go: ENSG00000136379;
name:
Alpha/beta hydrolase domain-containing protein 17C (Abhydrolase domain-containing protein 17C) (EC 3.1.2.22)

sequence:

opentargets:
cell junction [GO:0030054]; dendritic spine [GO:0043197]; glutamatergic synapse [GO:0098978]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; recycling endosome membrane [GO:0055038]; palmitoyl-(protein) hydrolase activity [GO:0008474]; negative regulation of protein localization to microtubule [GO:1902817]; positive regulation of protein localization to endosome [GO:1905668]; protein depalmitoylation [GO:0002084]; protein palmitoylation [GO:0018345]; regulation of postsynapse organization [GO:0099175]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6PCB6-1; Sequence=Displayed; Name=2; IsoId=Q6PCB6-2; Sequence=VSP_027273; 

location:
SUBCELLULAR LOCATION: Recycling endosome membrane {ECO:0000250|UniProtKB:B5DFK7}; Lipid-anchor {ECO:0000250|UniProtKB:B5DFK7}; Cytoplasmic side {ECO:0000250|UniProtKB:B5DFK7}. Cell projection, dendritic spine {ECO:0000250|UniProtKB:B5DFK7}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250|UniProtKB:B5DFK7}.


uniprotID: P31937
geneSymbol: HIBADH
reactome: R-HSA-70895;
pdb: 2GF2;2I9P;
name: 3-hydroxyisobutyrate dehydrogenase, mitochondrial (HIBADH) (EC 1.1.1.31)
length: 336
go: ENSG00000106049;
drug: DB00157;
location: SUBCELLULAR LOCATION: Mitochondrion.
sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; 3-hydroxyisobutyrate dehydrogenase activity [GO:0008442]; NAD binding [GO:0051287]; NADP binding [GO:0050661]; oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor [GO:0016616]; branched-chain amino acid catabolic process [GO:0009083]; valine catabolic process [GO:0006574]


uniprotID: P30457
geneSymbol: HLA-A
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
length: 365
snps: rs199474430 rs1136688 rs1059509 rs1059516
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
HLA class I histocompatibility antigen, A-66 alpha chain (Aw-66) (HLA class I histocompatibility antigen, A-10 alpha chain) (MHC class I antigen A*66)

sequence:


uniprotID: P22760
geneSymbol: AADAC
reactome: R-HSA-211945;
name: Arylacetamide deacetylase (EC 3.1.1.3)
length: 399
go: ENSG00000114771;
snps: rs1803155
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; organelle membrane [GO:0031090]; catalytic activity [GO:0003824]; deacetylase activity [GO:0019213]; lipase activity [GO:0016298]; serine hydrolase activity [GO:0017171]; triglyceride lipase activity [GO:0004806]; positive regulation of triglyceride catabolic process [GO:0010898]; xenobiotic metabolic process [GO:0006805]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type II membrane protein. Microsome membrane; Single-pass type II membrane protein.


uniprotID: P30510
geneSymbol: HLA-C
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
name: HLA class I histocompatibility antigen, Cw-14 alpha chain (MHC class I antigen Cw*14)
length: 366
snps: rs1050409 rs1065382 rs28626310 rs2308574 rs1131103 rs1050276
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

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


uniprotID: Q6UXT9
geneSymbol: ABHD15
length: 468
go: ENSG00000168792;
snps: rs542939
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Protein ABHD15 (EC 3.1.1.-) (Alpha/beta hydrolase domain-containing protein 15) (Abhydrolase domain-containing protein 15)

sequence:

opentargets:
extracellular region [GO:0005576]; membrane [GO:0016020]; hydrolase activity [GO:0016787]; cellular lipid metabolic process [GO:0044255]


uniprotID: P56378
geneSymbol: MP68
name: 6.8 kDa mitochondrial proteolipid
sequence: MLQSIIKNIWIPMKPYYTKVYQEIWIGMGLMGFIVYKIRAADKRSKALKASAPAPGHH
length: 58
go: ENSG00000156411;
snps: rs1053419
opentargets:
integral component of membrane [GO:0016021]; mitochondrial proton-transporting ATP synthase complex [GO:0005753]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P56378-1; Sequence=Displayed; Name=2; IsoId=P56378-2; Sequence=VSP_047043; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250}. Mitochondrion membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.


uniprotID: Q5TYW2
geneSymbol: ANKRD20A1
name: Ankyrin repeat domain-containing protein 20A1
length: 823
opentargets: plasma membrane [GO:0005886]
sequence:


uniprotID: Q09428
geneSymbol: ABCC8
reactome: R-HSA-1296025;R-HSA-422356;R-HSA-5683177;
pdb: 6C3O;6C3P;
name: ATP-binding cassette sub-family C member 8 (Sulfonylurea receptor 1)
length: 1581
go: ENSG00000006071;
sequence:

opentargets:
inward rectifying potassium channel [GO:0008282]; membrane [GO:0016020]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; sarcolemma [GO:0042383]; synaptic vesicle membrane [GO:0030672]; ATP binding [GO:0005524]; ATP-activated inward rectifier potassium channel activity [GO:0015272]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; ion channel binding [GO:0044325]; potassium channel activity [GO:0005267]; sulfonylurea receptor activity [GO:0008281]; cellular glucose homeostasis [GO:0001678]; cellular response to organic substance [GO:0071310]; female pregnancy [GO:0007565]; memory [GO:0007613]; negative regulation of angiogenesis [GO:0016525]; negative regulation of glial cell proliferation [GO:0060253]; negative regulation of insulin secretion [GO:0046676]; negative regulation of low-density lipoprotein particle clearance [GO:0010989]; negative regulation of maintenance of permeability of blood-brain barrier [GO:1905604]; negative regulation of neuroblast migration [GO:0061855]; negative regulation of wound healing [GO:0061045]; positive regulation of tight junction disassembly [GO:1905075]; positive regulation of tumor necrosis factor production [GO:0032760]; positive regulation of uterine smooth muscle relaxation [GO:1900721]; positive regulation of voltage-gated potassium channel activity [GO:1903818]; potassium ion transport [GO:0006813]; regulation of insulin secretion [GO:0050796]; response to drug [GO:0042493]; response to insulin [GO:0032868]; response to lipopolysaccharide [GO:0032496]; response to pH [GO:0009268]; response to zinc ion [GO:0010043]; transmembrane transport [GO:0055085]; visual learning [GO:0008542]

drug:
DB00171;DB00672;DB01120;DB00222;DB01067;DB01251;DB01016;DB01382;DB01252;DB00731;DB00912;DB00839;DB01124;

snps:
rs781059815 rs200670692 rs267606623 rs80356634 rs72559734 rs201682634 rs193929360 rs193929360 rs10400391 rs761749884 rs72559731 rs60637558 rs80356637 rs80356637 rs137852672 rs797045213 rs80356640 rs193929366 rs80356642 rs1048095 rs768017509 rs778892038 rs185040406 rs769569410 rs80356651 rs72559728 rs67254669 rs372307320 rs72559727 rs4148619 rs137852674 rs72559726 rs58241708 rs777986828 rs72559723 rs767572066 rs140068774 rs761862121 rs72559721 rs201351976 rs193922400 rs137852675 rs367850779 rs139964066 rs200563930 rs67767715 rs28936370 rs28936370 rs757110 rs925231098 rs137852673 rs773448052 rs72559718 rs769279368 rs137852676 rs1446306735 rs28938469 rs80356653 rs387906407 rs72559717 rs72559716 rs72559715 rs746480424 rs28936371 rs137852671 rs72559713 rs1221760584 rs8192690 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q09428-1; Sequence=Displayed; Name=2; IsoId=Q09428-2; Sequence=VSP_000055; Name=3; Synonyms=SUR1Delta2; IsoId=Q09428-3; Sequence=VSP_044090; Note=Abundant isoform with prodiabetic properties, predominant in heart.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:24814349}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q9Y312
geneSymbol: AAR2
name: Protein AAR2 homolog (AAR2 splicing factor homolog)
length: 384
go: ENSG00000131043;
opentargets: spliceosomal complex [GO:0005681]; spliceosomal tri-snRNP complex assembly [GO:0000244]
snps: rs6121183
sequence:


uniprotID: Q29960
geneSymbol: HLA-C
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
name: HLA class I histocompatibility antigen, Cw-16 alpha chain (MHC class I antigen Cw*16)
length: 366
snps: rs1050409 rs1065382 rs28626310 rs2308574 rs1131103 rs1050276
sequence:

opentargets:
cell surface [GO:0009986]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; ER to Golgi transport vesicle membrane [GO:0012507]; extracellular region [GO:0005576]; 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]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q29960-1; Sequence=Displayed; Name=2; IsoId=Q29960-2; Sequence=VSP_008096; 


uniprotID: Q04917
geneSymbol: YWHAH
reactome: R-HSA-111447;R-HSA-1445148;R-HSA-5625740;R-HSA-5628897;R-HSA-75035;
pdb: 2C63;2C74;
name: 14-3-3 protein eta (Protein AS1)
length: 246
go: ENSG00000128245;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; glutamatergic synapse [GO:0098978]; intercalated disc [GO:0014704]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; presynapse [GO:0098793]; actin binding [GO:0003779]; enzyme binding [GO:0019899]; glucocorticoid receptor binding [GO:0035259]; identical protein binding [GO:0042802]; insulin-like growth factor receptor binding [GO:0005159]; ion channel binding [GO:0044325]; protein domain specific binding [GO:0019904]; protein heterodimerization activity [GO:0046982]; sodium channel regulator activity [GO:0017080]; glucocorticoid catabolic process [GO:0006713]; glucocorticoid receptor signaling pathway [GO:0042921]; intracellular protein transport [GO:0006886]; membrane depolarization during action potential [GO:0086010]; membrane organization [GO:0061024]; negative regulation of dendrite morphogenesis [GO:0050774]; positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway [GO:1900740]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of neuron differentiation [GO:0045664]; regulation of sodium ion transmembrane transporter activity [GO:2000649]; regulation of sodium ion transport [GO:0002028]; regulation of synaptic plasticity [GO:0048167]; substantia nigra development [GO:0021762]


uniprotID: Q15822
geneSymbol: CHRNA2
reactome: R-HSA-629594;R-HSA-629597;
pdb: 5FJV;
name: Neuronal acetylcholine receptor subunit alpha-2
length: 529
go: ENSG00000120903;
snps: rs2472553 rs891398 rs104894063 rs1018084204
sequence:

opentargets:
acetylcholine-gated channel complex [GO:0005892]; cell junction [GO:0030054]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; 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]; ligand-gated ion channel activity [GO:0015276]; chemical synaptic transmission [GO:0007268]; ion transmembrane transport [GO:0034220]; ion transport [GO:0006811]; nervous system process [GO:0050877]; protein heterooligomerization [GO:0051291]; regulation of membrane potential [GO:0042391]; signal transduction [GO:0007165]

drug:
DB00732;DB00810;DB00411;DB00565;DB01245;DB00514;DB01135;DB00898;DB00674;DB00483;DB00657;DB01336;DB00416;DB01226;DB00184;DB01337;DB01338;DB00721;DB00728;DB05740;DB01199;DB01339;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15822-1; Sequence=Displayed; Name=2; IsoId=Q15822-2; Sequence=VSP_055156; Note=No experimental confirmation available.; 


uniprotID: Q969T7
geneSymbol: NT5C3B
reactome: R-HSA-429958;
length: 300
go: ENSG00000141698;
snps: rs1046403 rs1046404
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
name:
7-methylguanosine phosphate-specific 5'-nucleotidase (7-methylguanosine nucleotidase) (EC 3.1.3.91) (Cytosolic 5'-nucleotidase 3B) (Cytosolic 5'-nucleotidase III-like protein) (cN-III-like protein) (EC 3.1.3.5) (N(7)-methylguanylate 5'-phosphatase)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; 5'-nucleotidase activity [GO:0008253]; magnesium ion binding [GO:0000287]; nucleotide binding [GO:0000166]; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay [GO:0043928]; nucleotide metabolic process [GO:0009117]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q969T7-1; Sequence=Displayed; Name=2; IsoId=Q969T7-2; Sequence=VSP_046297; 


uniprotID: Q9UNA3
geneSymbol: A4GNT
reactome: R-HSA-913709;
name: Alpha-1,4-N-acetylglucosaminyltransferase (Alpha4GnT) (EC 2.4.1.-)
length: 340
go: ENSG00000118017;
snps: rs2246945
sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; acetylglucosaminyltransferase activity [GO:0008375]; carbohydrate metabolic process [GO:0005975]; glycoprotein biosynthetic process [GO:0009101]; negative regulation of epithelial cell proliferation [GO:0050680]; O-glycan processing [GO:0016266]; protein O-linked glycosylation [GO:0006493]

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000255}.


uniprotID: Q95604
geneSymbol: HLA-C
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
name: HLA class I histocompatibility antigen, Cw-17 alpha chain (MHC class I antigen Cw*17)
length: 372
snps: rs1050409 rs1065382 rs28626310 rs41543814 rs1050276
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

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


uniprotID: Q96IU4
geneSymbol: ABHD14B
reactome: R-HSA-156584;
pdb: 1IMJ;
length: 210
go: ENSG00000114779;
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Predominantly cytoplasmic.
name:
Protein ABHD14B (EC 3.-.-.-) (Alpha/beta hydrolase domain-containing protein 14B) (Abhydrolase domain-containing protein 14B) (CCG1-interacting factor B)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleolus [GO:0005730]; nucleus [GO:0005634]; hydrolase activity [GO:0016787]; 3'-phosphoadenosine 5'-phosphosulfate metabolic process [GO:0050427]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96IU4-1; Sequence=Displayed; Name=2; IsoId=Q96IU4-2; Sequence=VSP_008058; Note=No experimental confirmation available.; 


uniprotID: Q9Y235
geneSymbol: APOBEC2
reactome: R-HSA-72200;R-HSA-75094;
pdb: 2NYT;
name: C->U-editing enzyme APOBEC-2 (EC 3.5.4.36) (mRNA(cytosine(6666)) deaminase 2)
length: 224
go: ENSG00000124701;
snps: rs2076472
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; cytidine deaminase activity [GO:0004126]; identical protein binding [GO:0042802]; RNA binding [GO:0003723]; zinc ion binding [GO:0008270]; cytidine to uridine editing [GO:0016554]; DNA demethylation [GO:0080111]; mRNA modification [GO:0016556]; mRNA processing [GO:0006397]


uniprotID: P08910
geneSymbol: ABHD2
length: 425
go: ENSG00000140526;
snps: rs17851730
name:
Monoacylglycerol lipase ABHD2 (EC 3.1.1.23) (2-arachidonoylglycerol hydrolase) (Abhydrolase domain-containing protein 2) (Lung alpha/beta hydrolase 2) (Protein PHPS1-2)

sequence:

opentargets:
acrosomal vesicle [GO:0001669]; integral component of membrane [GO:0016021]; sperm flagellum [GO:0036126]; sperm plasma membrane [GO:0097524]; acylglycerol lipase activity [GO:0047372]; hormone binding [GO:0042562]; lipase activity [GO:0016298]; short-chain carboxylesterase activity [GO:0034338]; steroid hormone receptor activity [GO:0003707]; acrosome reaction [GO:0007340]; acylglycerol catabolic process [GO:0046464]; cellular lipid metabolic process [GO:0044255]; medium-chain fatty acid biosynthetic process [GO:0051792]; medium-chain fatty acid catabolic process [GO:0051793]; negative regulation of cell migration [GO:0030336]; response to progesterone [GO:0032570]; response to wounding [GO:0009611]; sperm capacitation [GO:0048240]; steroid hormone mediated signaling pathway [GO:0043401]

location:
SUBCELLULAR LOCATION: Cell projection, cilium, flagellum membrane {ECO:0000305|PubMed:26989199}; Single-pass type II membrane protein {ECO:0000305}. Cell membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.


uniprotID: Q8NF67
geneSymbol: ANKRD20A12P
name: Putative ankyrin repeat domain-containing protein 20A12 pseudogene
length: 263
sequence:


uniprotID: P28222
geneSymbol: HTR1B
reactome: R-HSA-390666;R-HSA-418594;
pdb: 2G1X;4IAQ;4IAR;5V54;6G79;
length: 390
go: ENSG00000135312;
snps: rs130060 rs130061 rs130063 rs130064
name:
5-hydroxytryptamine receptor 1B (5-HT-1B) (5-HT1B) (S12) (Serotonin 1D beta receptor) (5-HT-1D-beta) (Serotonin receptor 1B)

sequence:

opentargets:
calyx of Held [GO:0044305]; cytoplasm [GO:0005737]; dendrite [GO:0030425]; integral component of plasma membrane [GO:0005887]; integral component of presynaptic membrane [GO:0099056]; plasma membrane [GO:0005886]; serotonergic synapse [GO:0099154]; drug binding [GO:0008144]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled serotonin receptor activity [GO:0004993]; neurotransmitter receptor activity [GO:0030594]; serotonin binding [GO:0051378]; voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels [GO:0099626]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; adenylate cyclase-inhibiting serotonin receptor signaling pathway [GO:0007198]; bone remodeling [GO:0046849]; cellular response to alkaloid [GO:0071312]; cellular response to drug [GO:0035690]; cellular response to temperature stimulus [GO:0071502]; chemical synaptic transmission [GO:0007268]; drinking behavior [GO:0042756]; G protein-coupled receptor internalization [GO:0002031]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; negative regulation of serotonin secretion [GO:0014063]; negative regulation of synaptic transmission, GABAergic [GO:0032229]; negative regulation of synaptic transmission, glutamatergic [GO:0051967]; positive regulation of vascular smooth muscle cell proliferation [GO:1904707]; presynaptic modulation of chemical synaptic transmission [GO:0099171]; protein kinase C-activating G protein-coupled receptor signaling pathway [GO:0007205]; regulation of behavior [GO:0050795]; regulation of dopamine secretion [GO:0014059]; regulation of synaptic vesicle exocytosis [GO:2000300]; response to cocaine [GO:0042220]; response to ethanol [GO:0045471]; response to mineralocorticoid [GO:0051385]; vasoconstriction [GO:0042310]

drug:
DB00918;DB00321;DB00543;DB00714;DB01238;DB06216;DB08807;DB01200;DB00248;DB00363;DB04884;DB00320;DB00216;DB01049;DB00696;DB00998;DB01221;DB00589;DB00408;DB05743;DB00247;DB00952;DB06096;DB00334;DB00904;DB01359;DB01186;DB00960;DB00413;DB00571;DB01224;DB00953;DB00268;DB00669;DB13025;DB09068;DB01392;DB00246;DB00315;

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10452531, ECO:0000269|PubMed:1315531, ECO:0000269|PubMed:1328844, ECO:0000269|PubMed:1348246, ECO:0000269|PubMed:1351684, ECO:0000269|PubMed:1559993, ECO:0000269|PubMed:1565658, ECO:0000269|PubMed:1610347, ECO:0000269|PubMed:23519210, ECO:0000269|PubMed:23519215}; Multi-pass membrane protein {ECO:0000269|PubMed:10452531, ECO:0000269|PubMed:1315531, ECO:0000269|PubMed:1328844, ECO:0000269|PubMed:1348246, ECO:0000269|PubMed:1351684, ECO:0000269|PubMed:1559993, ECO:0000269|PubMed:1565658, ECO:0000269|PubMed:1610347, ECO:0000269|PubMed:23519210, ECO:0000269|PubMed:23519215}.


uniprotID: Q7Z5M8
geneSymbol: ABHD12B
length: 362
go: ENSG00000131969;
opentargets: hydrolase activity [GO:0016787]
snps: rs28564871 rs7154732
name:
Protein ABHD12B (EC 3.-.-.-) (Abhydrolase domain-containing protein 12B) (Alpha/beta hydrolase domain-containing protein 12B)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Variant 1; IsoId=Q7Z5M8-1; Sequence=Displayed; Name=2; Synonyms=Variant 3; IsoId=Q7Z5M8-2; Sequence=VSP_010687; Name=4; Synonyms=Variant 4; IsoId=Q7Z5M8-4; Sequence=VSP_041149, VSP_041150; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=5; IsoId=Q7Z5M8-5; Sequence=VSP_010687, VSP_010688, VSP_010689; Note=No experimental confirmation available.; 


uniprotID: Q4UJ75
geneSymbol: ANKRD20A4
name: Ankyrin repeat domain-containing protein 20A4
length: 823
sequence:


uniprotID: Q6H8Q1
geneSymbol: ABLIM2
reactome: R-HSA-418885;
pdb: 1V6G;1WIG;2L3X;
name: Actin-binding LIM protein 2 (abLIM-2) (Actin-binding LIM protein family member 2)
length: 611
go: ENSG00000163995;
snps: rs757430763
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; actin filament binding [GO:0051015]; metal ion binding [GO:0046872]; actin cytoskeleton organization [GO:0030036]; lamellipodium assembly [GO:0030032]; transcription, DNA-templated [GO:0006351]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Name=1; IsoId=Q6H8Q1-1; Sequence=Displayed; Name=2; IsoId=Q6H8Q1-2; Sequence=VSP_012117; Name=3; IsoId=Q6H8Q1-3; Sequence=VSP_012113, VSP_012115, VSP_012117; Name=4; IsoId=Q6H8Q1-4; Sequence=VSP_012112, VSP_012113, VSP_012114, VSP_012116; Note=No experimental confirmation available.; Name=5; IsoId=Q6H8Q1-5; Sequence=VSP_012116, VSP_012117; Note=No experimental confirmation available.; Name=6; IsoId=Q6H8Q1-6; Sequence=VSP_012113, VSP_012115, VSP_012116, VSP_012118, VSP_012119; Note=No experimental confirmation available.; Name=7; IsoId=Q6H8Q1-7; Sequence=VSP_012115; Name=8; IsoId=Q6H8Q1-8; Sequence=VSP_012115, VSP_012116, VSP_012117; Note=No experimental confirmation available.; Name=9; IsoId=Q6H8Q1-9; Sequence=VSP_046646, VSP_012116; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Note=In skeletal muscle, sarcomeric or cosarcomeric localization. {ECO:0000250}.


uniprotID: Q5SQ80
geneSymbol: ANKRD20A2
name: Ankyrin repeat domain-containing protein 20A2
length: 823
sequence:


uniprotID: Q5VUR7
geneSymbol: ANKRD20A3
name: Ankyrin repeat domain-containing protein 20A3
length: 823
sequence:


uniprotID: Q9TQE0
geneSymbol: HLA-DRB1
reactome: R-HSA-202424;R-HSA-202427;R-HSA-202430;R-HSA-202433;R-HSA-2132295;R-HSA-389948;R-HSA-877300;
length: 266
snps: rs707953 rs9269744
name:
HLA class II histocompatibility antigen, DRB1-9 beta chain (MHC class II antigen DRB1*9) (DR-9) (DR9)

sequence:

opentargets:
clathrin-coated endocytic vesicle membrane [GO:0030669]; endocytic vesicle membrane [GO:0030666]; ER to Golgi transport vesicle membrane [GO:0012507]; external side of plasma membrane [GO:0009897]; extracellular space [GO:0005615]; 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]; peptide antigen binding [GO:0042605]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; detection of bacterium [GO:0016045]; humoral immune response mediated by circulating immunoglobulin [GO:0002455]; immune response [GO:0006955]; immunoglobulin production involved in immunoglobulin mediated immune response [GO:0002381]; inflammatory response to antigenic stimulus [GO:0002437]; interferon-gamma-mediated signaling pathway [GO:0060333]; negative regulation of interferon-gamma production [GO:0032689]; negative regulation of T cell proliferation [GO:0042130]; positive regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0035774]; protein tetramerization [GO:0051262]; regulation of interleukin-10 secretion [GO:2001179]; regulation of interleukin-4 production [GO:0032673]; T cell receptor signaling pathway [GO:0050852]; T-helper 1 type immune response [GO:0042088]


uniprotID: Q15027
geneSymbol: ACAP1
pdb: 3JUE;3T9K;4CKG;4CKH;4F1P;4NSW;
name: Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1 (Centaurin-beta-1) (Cnt-b1)
length: 740
go: ENSG00000072818;
snps: rs35933585 rs759855054 rs754740225 rs35019942
sequence:

opentargets:
membrane [GO:0016020]; recycling endosome membrane [GO:0055038]; GTPase activator activity [GO:0005096]; metal ion binding [GO:0046872]; protein transport [GO:0015031]

location:
SUBCELLULAR LOCATION: Recycling endosome membrane {ECO:0000269|PubMed:16256741}; Peripheral membrane protein {ECO:0000269|PubMed:16256741}; Cytoplasmic side {ECO:0000269|PubMed:16256741}.


uniprotID: P46098
geneSymbol: HTR3A
reactome: R-HSA-112314;
length: 478
go: ENSG00000166736;
snps: rs117793058 rs4938063 rs35815285 rs183698487
name:
5-hydroxytryptamine receptor 3A (5-HT3-A) (5-HT3A) (5-hydroxytryptamine receptor 3) (5-HT-3) (5-HT3R) (Serotonin receptor 3A) (Serotonin-gated ion channel receptor)

sequence:

opentargets:
axon [GO:0030424]; cell junction [GO:0030054]; cleavage furrow [GO:0032154]; cytoplasm [GO:0005737]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic membrane [GO:0099055]; integral component of presynaptic membrane [GO:0099056]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; serotonin-activated cation-selective channel complex [GO:1904602]; synapse [GO:0045202]; serotonin binding [GO:0051378]; serotonin-gated cation-selective channel activity [GO:0022850]; transmembrane signaling receptor activity [GO:0004888]; cellular response to growth factor stimulus [GO:0071363]; chemical synaptic transmission [GO:0007268]; ion transmembrane transport [GO:0034220]; nervous system process [GO:0050877]; positive regulation of ion transmembrane transporter activity [GO:0032414]; regulation of membrane potential [GO:0042391]; response to cocaine [GO:0042220]; response to ethanol [GO:0045471]; signal transduction [GO:0007165]

drug:
DB00969;DB00543;DB01238;DB01161;DB04885;DB00604;DB00363;DB05049;DB00757;DB01049;DB00898;DB00889;DB00408;DB01043;DB00333;DB01233;DB00370;DB00334;DB00904;DB00377;DB00721;DB01224;DB04917;DB00728;DB06204;DB13025;DB00726;DB11699;DB01199;DB09068;DB00246;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=5-HT3R-AS; IsoId=P46098-1; Sequence=Displayed; Name=2; Synonyms=5-HT3R-AL; IsoId=P46098-2; Sequence=VSP_000078; Name=3; IsoId=P46098-3; Sequence=VSP_042214; Name=4; IsoId=P46098-4; Sequence=VSP_043484; Note=No experimental confirmation available.; Name=5; IsoId=P46098-5; Sequence=VSP_043484, VSP_000078; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: O94929
geneSymbol: ABLIM3
reactome: R-HSA-418885;
pdb: 1UJS;2DJ7;
name: Actin-binding LIM protein 3 (abLIM-3) (Actin-binding LIM protein family member 3)
length: 683
go: ENSG00000173210;
snps: rs35907283
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; glutamatergic synapse [GO:0098978]; lamellipodium [GO:0030027]; stress fiber [GO:0001725]; actin filament binding [GO:0051015]; metal ion binding [GO:0046872]; actin cytoskeleton organization [GO:0030036]; cilium assembly [GO:0060271]; lamellipodium assembly [GO:0030032]; positive regulation of protein targeting to mitochondrion [GO:1903955]; positive regulation of transcription by RNA polymerase II [GO:0045944]; transcription, DNA-templated [GO:0006351]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O94929-1; Sequence=Displayed; Name=2; IsoId=O94929-2; Sequence=VSP_012127, VSP_012128, VSP_012130; Note=No experimental confirmation available.; Name=3; IsoId=O94929-3; Sequence=VSP_012127, VSP_012129; Note=No experimental confirmation available.; Name=4; IsoId=O94929-4; Sequence=VSP_012126; Note=No experimental confirmation available.; 


uniprotID: Q8IZP0
geneSymbol: ABI1
reactome: R-HSA-2029482;R-HSA-4420097;R-HSA-5663213;
length: 508
go: ENSG00000136754;
snps: rs2306236
name:
Abl interactor 1 (Abelson interactor 1) (Abi-1) (Abl-binding protein 4) (AblBP4) (Eps8 SH3 domain-binding protein) (Eps8-binding protein) (Nap1-binding protein) (Nap1BP) (Spectrin SH3 domain-binding protein 1) (e3B1)

sequence:

opentargets:
cell junction [GO:0030054]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; filopodium tip [GO:0032433]; growth cone [GO:0030426]; intracellular [GO:0005622]; lamellipodium [GO:0030027]; neuron projection [GO:0043005]; nucleus [GO:0005634]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; SCAR complex [GO:0031209]; cadherin binding [GO:0045296]; cytoskeletal protein binding [GO:0008092]; protein tyrosine kinase activator activity [GO:0030296]; protein-containing complex binding [GO:0044877]; SH3 domain binding [GO:0017124]; transcription factor binding [GO:0008134]; actin polymerization or depolymerization [GO:0008154]; dendrite morphogenesis [GO:0048813]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; lamellipodium morphogenesis [GO:0072673]; megakaryocyte development [GO:0035855]; negative regulation of cell proliferation [GO:0008285]; peptidyl-tyrosine phosphorylation [GO:0018108]; somitogenesis [GO:0001756]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=12;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q8IZP0-1; Sequence=Displayed; Name=2; Synonyms=long, B48; IsoId=Q8IZP0-2; Sequence=VSP_010749, VSP_010750, VSP_010751, VSP_010752; Name=3; IsoId=Q8IZP0-3; Sequence=VSP_010750, VSP_010752; Name=4; IsoId=Q8IZP0-4; Sequence=VSP_010750, VSP_010751, VSP_010752; Name=5; IsoId=Q8IZP0-5; Sequence=VSP_010749, VSP_010750; Name=6; IsoId=Q8IZP0-6; Sequence=VSP_010750, VSP_010751; Name=7; Synonyms=4; IsoId=Q8IZP0-7; Sequence=VSP_010750, VSP_010751, VSP_010754, VSP_010755; Name=8; Synonyms=5; IsoId=Q8IZP0-8; Sequence=VSP_010750, VSP_010751, VSP_010754, VSP_010752; Name=9; Synonyms=2; IsoId=Q8IZP0-9; Sequence=VSP_010750; Name=10; Synonyms=B30; IsoId=Q8IZP0-10; Sequence=VSP_010749, VSP_010750, VSP_010751, VSP_010754, VSP_010752, VSP_010753; Name=11; IsoId=Q8IZP0-11; Sequence=VSP_043403, VSP_010750, VSP_010751, VSP_010754, VSP_010752, VSP_010753; Note=No experimental confirmation available.; Name=12; IsoId=Q8IZP0-12; Sequence=VSP_044604, VSP_010752; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}. Cell projection, lamellipodium {ECO:0000250}. Cell projection, filopodium {ECO:0000250}. Cell projection, growth cone {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Note=Localized to protruding lamellipodia and filopodia tips. Also localized to neuronal growth cones and synaptosomes. May shuttle from the postsynaptic densities to the nucleus (By similarity). {ECO:0000250}.


uniprotID: P01912
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: 1A6A;
length: 266
snps: rs1059569 rs9269941 rs1059633
name:
HLA class II histocompatibility antigen, DRB1-3 chain (Clone P2-beta-3) (MHC class II antigen DRB1*3)

sequence:

opentargets:
clathrin-coated endocytic vesicle membrane [GO:0030669]; endocytic vesicle membrane [GO:0030666]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; late endosome membrane [GO:0031902]; lysosomal membrane [GO:0005765]; MHC class II protein complex [GO:0042613]; plasma membrane [GO:0005886]; trans-Golgi network membrane [GO:0032588]; transport vesicle membrane [GO:0030658]; peptide antigen binding [GO:0042605]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; humoral immune response mediated by circulating immunoglobulin [GO:0002455]; immunoglobulin production involved in immunoglobulin mediated immune response [GO:0002381]; interferon-gamma-mediated signaling pathway [GO:0060333]; peptide antigen assembly with MHC class II protein complex [GO:0002503]; T cell receptor signaling pathway [GO:0050852]


uniprotID: Q30167
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;
name: HLA class II histocompatibility antigen, DRB1-10 beta chain (DRw10) (MHC class II antigen DRB1*10)
length: 266
snps: rs9269744
sequence:


uniprotID: Q96P50
geneSymbol: ACAP3
name: Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3 (Centaurin-beta-5) (Cnt-b5)
length: 834
go: ENSG00000131584;
sequence:

opentargets:
growth cone [GO:0030426]; GTPase activator activity [GO:0005096]; metal ion binding [GO:0046872]; neuron migration [GO:0001764]; regulation of neuron projection development [GO:0010975]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96P50-3; Sequence=Displayed; Name=2; IsoId=Q96P50-1; Sequence=VSP_035993, VSP_035994; Name=3; IsoId=Q96P50-4; Sequence=VSP_035992; Note=No experimental confirmation available.; 


uniprotID: P01011
geneSymbol: SERPINA3
reactome: R-HSA-114608;R-HSA-6798695;
pdb: 1AS4;1QMN;2ACH;3CAA;3DLW;4CAA;
length: 423
go: ENSG00000196136;
snps: rs4934 rs1800463 rs17473 rs17853314 rs755521612 rs10956
location: SUBCELLULAR LOCATION: Secreted.
name:
Alpha-1-antichymotrypsin (ACT) (Cell growth-inhibiting gene 24/25 protein) (Serpin A3) [Cleaved into: Alpha-1-antichymotrypsin His-Pro-less]

sequence:

opentargets:
azurophil granule lumen [GO:0035578]; blood microparticle [GO:0072562]; collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; nucleus [GO:0005634]; platelet alpha granule lumen [GO:0031093]; secretory granule lumen [GO:0034774]; DNA binding [GO:0003677]; serine-type endopeptidase inhibitor activity [GO:0004867]; acute-phase response [GO:0006953]; inflammatory response [GO:0006954]; maintenance of gastrointestinal epithelium [GO:0030277]; negative regulation of endopeptidase activity [GO:0010951]; neutrophil degranulation [GO:0043312]; platelet degranulation [GO:0002576]; regulation of lipid metabolic process [GO:0019216]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P01011-1; Sequence=Displayed; Name=2; IsoId=P01011-2; Sequence=VSP_014227, VSP_014228; Note=No experimental confirmation available.; Name=3; IsoId=P01011-3; Sequence=VSP_014225, VSP_014226; Note=No experimental confirmation available.; 


uniprotID: P62258
geneSymbol: YWHAE
pdb: 2BR9;3UAL;3UBW;6EIH;
name: 14-3-3 protein epsilon (14-3-3E)
length: 255
go: ENSG00000108953;
drug: DB01780;
reactome:
R-HSA-111447;R-HSA-1445148;R-HSA-2028269;R-HSA-205025;R-HSA-2565942;R-HSA-3371453;R-HSA-3371511;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-5625740;R-HSA-5628897;R-HSA-75035;R-HSA-8854518;R-HSA-8862803;R-HSA-8876198;

sequence:

opentargets:
central region of growth cone [GO:0090724]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; glutamatergic synapse [GO:0098978]; kinesin complex [GO:0005871]; melanosome [GO:0042470]; membrane [GO:0016020]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; cadherin binding [GO:0045296]; calcium channel regulator activity [GO:0005246]; enzyme binding [GO:0019899]; histone deacetylase binding [GO:0042826]; identical protein binding [GO:0042802]; ion channel binding [GO:0044325]; MHC class II protein complex binding [GO:0023026]; phosphoprotein binding [GO:0051219]; phosphoserine residue binding [GO:0050815]; potassium channel regulator activity [GO:0015459]; protein domain specific binding [GO:0019904]; protein heterodimerization activity [GO:0046982]; Rab guanyl-nucleotide exchange factor activity [GO:0017112]; RNA binding [GO:0003723]; scaffold protein binding [GO:0097110]; ubiquitin protein ligase binding [GO:0031625]; cellular response to heat [GO:0034605]; ciliary basal body-plasma membrane docking [GO:0097711]; G2/M transition of mitotic cell cycle [GO:0000086]; hippo signaling [GO:0035329]; intracellular signal transduction [GO:0035556]; MAPK cascade [GO:0000165]; membrane organization [GO:0061024]; membrane repolarization during cardiac muscle cell action potential [GO:0086013]; negative regulation of calcium ion export across plasma membrane [GO:1905913]; negative regulation of calcium ion transmembrane transporter activity [GO:1901020]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of peptidyl-serine dephosphorylation [GO:1902309]; positive regulation of protein export from nucleus [GO:0046827]; positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway [GO:1900740]; protein localization to nucleus [GO:0034504]; regulation of cellular response to heat [GO:1900034]; regulation of cytosolic calcium ion concentration [GO:0051480]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; regulation of heart rate by cardiac conduction [GO:0086091]; regulation of heart rate by hormone [GO:0003064]; regulation of membrane repolarization [GO:0060306]; regulation of postsynaptic membrane neurotransmitter receptor levels [GO:0099072]; regulation of potassium ion transmembrane transporter activity [GO:1901016]; substantia nigra development [GO:0021762]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P62258-1; Sequence=Displayed; Name=SV; IsoId=P62258-2; Sequence=VSP_040621; Note=Unable to dimerize with YWHAZ.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12917326}. Cytoplasm {ECO:0000269|PubMed:12917326}. Melanosome {ECO:0000269|PubMed:12042314, ECO:0000269|PubMed:17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO:0000269|PubMed:12042314, ECO:0000269|PubMed:17081065}.


uniprotID: P30461
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-13 alpha chain (MHC class I antigen B*13)
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]; positive regulation of T cell mediated cytotoxicity [GO:0001916]; regulation of immune response [GO:0050776]; type I interferon signaling pathway [GO:0060337]


uniprotID: Q8IUA7
geneSymbol: ABCA9
reactome: R-HSA-1369062;
name: ATP-binding cassette sub-family A member 9
length: 1624
go: ENSG00000154258;
snps: rs1860447 rs17684521 rs2302294 rs9916254
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; ATP binding [GO:0005524]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; lipid transport [GO:0006869]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8IUA7-1; Sequence=Displayed; Name=2; Synonyms=ABCA9delta+55; IsoId=Q8IUA7-2; Sequence=VSP_020705; Note=No experimental confirmation available.; Name=3; Synonyms=ABCA9delta+73; IsoId=Q8IUA7-3; Sequence=VSP_020707, VSP_020709; Note=No experimental confirmation available.; Name=4; Synonyms=ABCA9delta-95; IsoId=Q8IUA7-4; Sequence=VSP_020708, VSP_020709; Note=No experimental confirmation available.; Name=5; IsoId=Q8IUA7-5; Sequence=VSP_020706; Note=No experimental confirmation available.; 


uniprotID: Q13085
geneSymbol: ACACA
reactome: R-HSA-163765;R-HSA-196780;R-HSA-200425;R-HSA-2426168;R-HSA-3371599;R-HSA-75105;
pdb: 2YL2;3COJ;4ASI;6G2D;6G2H;6G2I;
length: 2346
go: ENSG00000278540;
drug: DB00121;
snps: rs2287351 rs146351326
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Acetyl-CoA carboxylase 1 (ACC1) (EC 6.4.1.2) (ACC-alpha) [Includes: Biotin carboxylase (EC 6.3.4.14)]

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytosol [GO:0005829]; fibrillar center [GO:0001650]; acetyl-CoA carboxylase activity [GO:0003989]; ATP binding [GO:0005524]; biotin carboxylase activity [GO:0004075]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; acetyl-CoA metabolic process [GO:0006084]; carnitine shuttle [GO:0006853]; cellular response to prostaglandin E stimulus [GO:0071380]; fatty acid biosynthetic process [GO:0006633]; fatty-acyl-CoA biosynthetic process [GO:0046949]; lipid homeostasis [GO:0055088]; malonyl-CoA biosynthetic process [GO:2001295]; positive regulation of cellular metabolic process [GO:0031325]; protein homotetramerization [GO:0051289]; protein metabolic process [GO:0019538]; regulation of cholesterol biosynthetic process [GO:0045540]; tissue homeostasis [GO:0001894]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage; Named isoforms=4;  Name=1; IsoId=Q13085-1; Sequence=Displayed; Name=2; Synonyms=E5A; IsoId=Q13085-2; Sequence=VSP_026099; Name=3; Synonyms=E5B; IsoId=Q13085-3; Sequence=VSP_026098; Name=4; IsoId=Q13085-4; Sequence=VSP_026100; 


uniprotID: Q86UK0
geneSymbol: ABCA12
reactome: R-HSA-1369062;R-HSA-5682294;
length: 2595
go: ENSG00000144452;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
ATP-binding cassette sub-family A member 12 (ATP-binding cassette transporter 12) (ATP-binding cassette 12)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; epidermal lamellar body [GO:0097209]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; plasma membrane [GO:0005886]; apolipoprotein A-I receptor binding [GO:0034191]; ATP binding [GO:0005524]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; lipid transporter activity [GO:0005319]; lipid-transporting ATPase activity [GO:0034040]; signaling receptor binding [GO:0005102]; cellular homeostasis [GO:0019725]; ceramide transport [GO:0035627]; establishment of skin barrier [GO:0061436]; keratinization [GO:0031424]; lipid homeostasis [GO:0055088]; lipid transport [GO:0006869]; lung alveolus development [GO:0048286]; phospholipid efflux [GO:0033700]; positive regulation of cholesterol efflux [GO:0010875]; positive regulation of protein localization to cell surface [GO:2000010]; protein localization to plasma membrane [GO:0072659]; regulated exocytosis [GO:0045055]; secretion by cell [GO:0032940]; surfactant homeostasis [GO:0043129]; transmembrane transport [GO:0055085]

snps:
rs16853238 rs11890512 rs11890468 rs11891778 rs746315995 rs7560008 rs370640837 rs16853149 rs7560008 rs267606622 rs13414448 rs28940269 rs28940268 rs28940270 rs28940271 rs13401480 rs1457513156 rs28940568 rs181314573 rs1213011 rs726070 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q86UK0-1; Sequence=Displayed; Name=2; IsoId=Q86UK0-2; Sequence=VSP_011283, VSP_011284; Note=No experimental confirmation available.; 


uniprotID: P29275
geneSymbol: ADORA2B
reactome: R-HSA-417973;R-HSA-418555;R-HSA-5683826;
name: Adenosine receptor A2b
length: 332
go: ENSG00000170425;
drug: DB00640;DB04932;DB00824;DB00277;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; Schaffer collateral - CA1 synapse [GO:0098685]; G protein-coupled adenosine receptor activity [GO:0001609]; activation of adenylate cyclase activity [GO:0007190]; activation of MAPK activity [GO:0000187]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; cellular defense response [GO:0006968]; cellular protein metabolic process [GO:0044267]; cellular response to extracellular stimulus [GO:0031668]; excretion [GO:0007588]; G protein-coupled receptor signaling pathway [GO:0007186]; JNK cascade [GO:0007254]; positive regulation of cGMP-mediated signaling [GO:0010753]; positive regulation of chemokine production [GO:0032722]; positive regulation of chronic inflammatory response to non-antigenic stimulus [GO:0002882]; positive regulation of guanylate cyclase activity [GO:0031284]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of mast cell degranulation [GO:0043306]; positive regulation of vascular endothelial growth factor production [GO:0010575]; regulation of synaptic vesicle exocytosis [GO:2000300]; relaxation of vascular smooth muscle [GO:0060087]


uniprotID: Q15758
geneSymbol: SLC1A5
reactome: R-HSA-352230;
pdb: 5LLM;5LLU;5LM4;5MJU;6GCT;
length: 541
go: ENSG00000105281;
drug: DB00174;DB00130;
snps: rs3027956 rs3027961
name:
Neutral amino acid transporter B(0) (ATB(0)) (Baboon M7 virus receptor) (RD114/simian type D retrovirus receptor) (Sodium-dependent neutral amino acid transporter type 2) (Solute carrier family 1 member 5)

sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; melanosome [GO:0042470]; membrane [GO:0016020]; plasma membrane [GO:0005886]; amino acid transmembrane transporter activity [GO:0015171]; L-glutamine transmembrane transporter activity [GO:0015186]; L-serine transmembrane transporter activity [GO:0015194]; metal ion binding [GO:0046872]; neutral amino acid transmembrane transporter activity [GO:0015175]; signaling receptor activity [GO:0038023]; symporter activity [GO:0015293]; virus receptor activity [GO:0001618]; amino acid transport [GO:0006865]; glutamine secretion [GO:0010585]; glutamine transport [GO:0006868]; L-glutamine import across plasma membrane [GO:1903803]; neutral amino acid transport [GO:0015804]; protein homotrimerization [GO:0070207]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=3;  Comment=A number of isoforms are produced by alternative initiation. Isoforms start at multiple alternative CUG and GUG codons. {ECO:0000269|PubMed:11350958}; Name=1; IsoId=Q15758-1; Sequence=Displayed; Name=2; IsoId=Q15758-2; Sequence=VSP_046354; Note=No experimental confirmation available.; Name=3; IsoId=Q15758-3; Sequence=VSP_046851; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:8702519, ECO:0000305|PubMed:29872227}; Multi-pass membrane protein {ECO:0000269|PubMed:29872227}. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.


uniprotID: P30508
geneSymbol: HLA-C
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
name: HLA class I histocompatibility antigen, Cw-12 alpha chain (MHC class I antigen Cw*12)
length: 366
snps: rs1050409 rs1065382 rs28626310 rs41543814 rs2308557 rs17408553 rs2308574 rs1131103 rs1050276
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

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


uniprotID: Q8WTS1
geneSymbol: ABHD5
reactome: R-HSA-163560;
length: 349
go: ENSG00000011198;
snps: rs104893676 rs2302349 rs28939077 rs28939078
name:
1-acylglycerol-3-phosphate O-acyltransferase ABHD5 (EC 2.3.1.51) (Abhydrolase domain-containing protein 5) (Lipid droplet-binding protein CGI-58)

sequence:

opentargets:
cytosol [GO:0005829]; lipid droplet [GO:0005811]; 1-acylglycerol-3-phosphate O-acyltransferase activity [GO:0003841]; carboxylic ester hydrolase activity [GO:0052689]; lysophosphatidic acid acyltransferase activity [GO:0042171]; cell differentiation [GO:0030154]; fatty acid metabolic process [GO:0006631]; lipid homeostasis [GO:0055088]; negative regulation of sequestering of triglyceride [GO:0010891]; phosphatidic acid biosynthetic process [GO:0006654]; positive regulation of lipoprotein lipase activity [GO:0051006]; positive regulation of triglyceride catabolic process [GO:0010898]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18832586}. Lipid droplet {ECO:0000250}. Note=Colocalized with PLIN and ADRP on the surface of lipid droplets. The localization is dependent upon the metabolic status of the adipocytes and the activity of PKA (By similarity). {ECO:0000250}.


uniprotID: P30926
geneSymbol: CHRNB4
reactome: R-HSA-629587;R-HSA-629594;R-HSA-629597;R-HSA-6798695;
pdb: 2ASG;
name: Neuronal acetylcholine receptor subunit beta-4
length: 498
go: ENSG00000117971;
drug: DB00514;DB00898;DB00674;DB01227;DB00184;DB01090;
snps: rs12914008 rs141876090 rs56218866 rs61737502
sequence:

opentargets:
acetylcholine-gated channel complex [GO:0005892]; cell junction [GO:0030054]; cholinergic synapse [GO:0098981]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; specific granule membrane [GO:0035579]; synapse [GO:0045202]; tertiary granule membrane [GO:0070821]; acetylcholine binding [GO:0042166]; acetylcholine receptor activity [GO:0015464]; acetylcholine-gated cation-selective channel activity [GO:0022848]; ligand-gated ion channel activity [GO:0015276]; protein heterodimerization activity [GO:0046982]; action potential [GO:0001508]; behavioral response to nicotine [GO:0035095]; chemical synaptic transmission [GO:0007268]; ion transmembrane transport [GO:0034220]; ion transport [GO:0006811]; locomotory behavior [GO:0007626]; nervous system process [GO:0050877]; neuromuscular synaptic transmission [GO:0007274]; neutrophil degranulation [GO:0043312]; positive regulation of transmission of nerve impulse [GO:0051971]; protein heterooligomerization [GO:0051291]; regulation of membrane potential [GO:0042391]; regulation of neurotransmitter secretion [GO:0046928]; regulation of smooth muscle contraction [GO:0006940]; response to nicotine [GO:0035094]; signal transduction [GO:0007165]; smooth muscle contraction [GO:0006939]; synaptic transmission involved in micturition [GO:0060084]; synaptic transmission, cholinergic [GO:0007271]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P30926-1; Sequence=Displayed; Name=2; IsoId=P30926-2; Sequence=VSP_046674, VSP_046675; 


uniprotID: P18463
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-37 alpha chain (MHC class I antigen B*37)
length: 362
snps: rs1131170 rs1050486 rs713031 rs713031 rs713031 rs1050529
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]; positive regulation of T cell mediated cytotoxicity [GO:0001916]; regulation of immune response [GO:0050776]; type I interferon signaling pathway [GO:0060337]


uniprotID: Q9H3Z7
geneSymbol: ABHD16B
length: 469
opentargets: hydrolase activity [GO:0016787]
snps: rs2281534
name:
Protein ABHD16B (EC 3.-.-.-) (Alpha/beta hydrolase domain-containing protein 16B) (Abhydrolase domain-containing protein 16B)

sequence:


uniprotID: Q70Z44
geneSymbol: HTR3D
reactome: R-HSA-112314;
name: 5-hydroxytryptamine receptor 3D (5-HT3-D) (5-HT3D) (Serotonin receptor 3D)
length: 454
go: ENSG00000186090;
drug: DB01049;DB00898;DB13025;
snps: rs6443930 rs1000952 rs6789754
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]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q70Z44-1; Sequence=Displayed; Name=2; IsoId=Q70Z44-2; Sequence=VSP_029798, VSP_029799, VSP_029801; Name=3; IsoId=Q70Z44-3; Sequence=VSP_029797, VSP_029800, VSP_029801; Name=4; IsoId=Q70Z44-4; Sequence=VSP_044828, VSP_044829, VSP_044830, VSP_029801; Note=No experimental confirmation available.; 

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: Q6UWZ7
geneSymbol: ABRAXAS1
reactome: R-HSA-5689901;R-HSA-5693565;R-HSA-5693571;R-HSA-5693607;R-HSA-69473;
pdb: 4JLU;4U4A;4Y18;4Y2G;
name: BRCA1-A complex subunit Abraxas 1 (Coiled-coil domain-containing protein 98) (Protein FAM175A)
length: 409
go: ENSG00000163322;
snps: rs12642536 rs12642536 rs201627097 rs13125836
sequence:

opentargets:
BRCA1-A complex [GO:0070531]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; polyubiquitin modification-dependent protein binding [GO:0031593]; chromatin organization [GO:0006325]; double-strand break repair [GO:0006302]; double-strand break repair via nonhomologous end joining [GO:0006303]; positive regulation of DNA repair [GO:0045739]; protein deubiquitination [GO:0016579]; response to ionizing radiation [GO:0010212]; signal transduction involved in G2 DNA damage checkpoint [GO:0072425]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6UWZ7-1; Sequence=Displayed; Name=2; IsoId=Q6UWZ7-2; Sequence=VSP_058196; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17525340, ECO:0000269|PubMed:17643121, ECO:0000269|PubMed:17643122}. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs). {ECO:0000305}.


uniprotID: A8K2U0
geneSymbol: A2ML1
length: 1454
go: ENSG00000166535;
snps: rs11047499 rs1860926 rs1558526 rs1860967 rs7959680 rs10219561 rs7308811 rs201083574 rs7315591
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:16298998}.
name:
Alpha-2-macroglobulin-like protein 1 (C3 and PZP-like alpha-2-macroglobulin domain-containing protein 9)

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; peptidase inhibitor activity [GO:0030414]; serine-type endopeptidase inhibitor activity [GO:0004867]; regulation of endopeptidase activity [GO:0052548]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A8K2U0-1; Sequence=Displayed; Name=2; IsoId=A8K2U0-2; Sequence=VSP_057135; Note=No experimental confirmation available.; 


uniprotID: P50406
geneSymbol: HTR6
reactome: R-HSA-390666;R-HSA-418555;
name: 5-hydroxytryptamine receptor 6 (5-HT-6) (5-HT6) (Serotonin receptor 6)
length: 440
go: ENSG00000158748;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
cilium [GO:0005929]; 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]; histamine receptor activity [GO:0004969]; neurotransmitter receptor activity [GO:0030594]; cerebral cortex cell migration [GO:0021795]; 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]; positive regulation of TOR signaling [GO:0032008]

drug:
DB00321;DB00543;DB01238;DB06216;DB00477;DB00363;DB01488;DB01142;DB01049;DB04946;DB00458;DB00408;DB06148;DB00540;DB00334;DB01224;DB06144;DB05042;DB13025;DB00246;


uniprotID: Q95IE3
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, DRB1-12 beta chain (MHC class II antigen DRB1*12) (DR-12) (DR12)

sequence:


uniprotID: Q9NRG9
geneSymbol: AAAS
name: Aladin (Adracalin)
length: 546
go: ENSG00000094914;
snps: rs121918549 rs13330 rs121918550
location: SUBCELLULAR LOCATION: Nucleus, nuclear pore complex {ECO:0000269|PubMed:19782045}.
sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; membrane [GO:0016020]; nuclear envelope [GO:0005635]; nuclear membrane [GO:0031965]; nuclear pore [GO:0005643]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; fertilization [GO:0009566]; learning [GO:0007612]; mRNA export from nucleus [GO:0006406]; nucleocytoplasmic transport [GO:0006913]; regulation of nucleocytoplasmic transport [GO:0046822]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=AAAS-v1; IsoId=Q9NRG9-1; Sequence=Displayed; Name=2; Synonyms=AAAS-v2; IsoId=Q9NRG9-2; Sequence=VSP_043014; Note=Ubiquitously expressed.; 


uniprotID: Q13362
geneSymbol: PPP2R5C
pdb: 2IAE;2JAK;2NPP;2NYL;2NYM;3FGA;5JJA;5K6S;5SW9;5SWF;
length: 524
go: ENSG00000078304;
snps: rs3742424
location: SUBCELLULAR LOCATION: Nucleus. Chromosome, centromere.
reactome:
R-HSA-141444;R-HSA-195253;R-HSA-196299;R-HSA-2467813;R-HSA-2500257;R-HSA-389513;R-HSA-432142;R-HSA-4641262;R-HSA-5339716;R-HSA-5358747;R-HSA-5358749;R-HSA-5358751;R-HSA-5358752;R-HSA-5467337;R-HSA-5467340;R-HSA-5467348;R-HSA-5663220;R-HSA-5673000;R-HSA-5675221;R-HSA-6804757;R-HSA-6811558;R-HSA-68877;

name:
Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform (PP2A B subunit isoform B'-gamma) (PP2A B subunit isoform B56-gamma) (PP2A B subunit isoform PR61-gamma) (PP2A B subunit isoform R5-gamma) (Renal carcinoma antigen NY-REN-29)

sequence:

opentargets:
chromosome, centromeric region [GO:0000775]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein phosphatase type 2A complex [GO:0000159]; protein phosphatase activator activity [GO:0072542]; protein phosphatase regulator activity [GO:0019888]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:0042771]; negative regulation of cell proliferation [GO:0008285]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; regulation of phosphatidylinositol 3-kinase signaling [GO:0014066]; regulation of protein autophosphorylation [GO:0031952]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=Gamma-3; IsoId=Q13362-1; Sequence=Displayed; Name=Gamma-1; IsoId=Q13362-2; Sequence=VSP_005112; Name=Gamma-2; IsoId=Q13362-3; Sequence=VSP_005113; Name=4; IsoId=Q13362-4; Sequence=VSP_043645, VSP_005113; Note=No experimental confirmation available.; Name=5; IsoId=Q13362-5; Sequence=VSP_046768; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: P16190
geneSymbol: HLA-A
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
name: HLA class I histocompatibility antigen, A-33 alpha chain (Aw-19) (Aw-33) (MHC class I antigen A*33)
length: 365
snps: rs1059509 rs1059516
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:


uniprotID: P30455
geneSymbol: HLA-A
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
name: HLA class I histocompatibility antigen, A-36 alpha chain (Aw-36) (MHC class I antigen A*36)
length: 365
snps: rs199474430 rs1136702 rs1059488 rs1059509 rs1059516 rs1059520 rs17185861
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

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


uniprotID: O94911
geneSymbol: ABCA8
reactome: R-HSA-382556;
name: ATP-binding cassette sub-family A member 8
length: 1581
go: ENSG00000141338;
snps: rs16973446 rs4147979 rs35621847 rs12150510 rs35844316 rs16973424 rs35403175
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; xenobiotic transmembrane transporting ATPase activity [GO:0008559]; lipid transport [GO:0006869]; transmembrane transport [GO:0055085]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O94911-1; Sequence=Displayed; Name=2; IsoId=O94911-2; Sequence=VSP_020703; Note=No experimental confirmation available.; Name=3; IsoId=O94911-3; Sequence=VSP_053440; Note=No experimental confirmation available.; 


uniprotID: P01009
geneSymbol: SERPINA1
reactome: R-HSA-114608;R-HSA-204005;R-HSA-381426;R-HSA-5694530;R-HSA-6798695;R-HSA-8957275;
length: 418
go: ENSG00000197249;
drug: DB03345;DB05481;
pdb:
1ATU;1D5S;1EZX;1HP7;1IZ2;1KCT;1OO8;1OPH;1PSI;1QLP;1QMB;2D26;2QUG;3CWL;3CWM;3DRM;3DRU;3NDD;3NDF;3NE4;3T1P;4PYW;5IO1;5NBU;5NBV;7API;8API;9API;

name:
Alpha-1-antitrypsin (Alpha-1 protease inhibitor) (Alpha-1-antiproteinase) (Serpin A1) [Cleaved into: Short peptide from AAT (SPAAT)]

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; COPII-coated ER to Golgi transport vesicle [GO:0030134]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; ficolin-1-rich granule lumen [GO:1904813]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; intracellular membrane-bounded organelle [GO:0043231]; platelet alpha granule lumen [GO:0031093]; identical protein binding [GO:0042802]; protease binding [GO:0002020]; serine-type endopeptidase inhibitor activity [GO:0004867]; acute-phase response [GO:0006953]; blood coagulation [GO:0007596]; cellular protein metabolic process [GO:0044267]; COPII vesicle coating [GO:0048208]; ER to Golgi vesicle-mediated transport [GO:0006888]; negative regulation of endopeptidase activity [GO:0010951]; neutrophil degranulation [GO:0043312]; platelet degranulation [GO:0002576]; post-translational protein modification [GO:0043687]

snps:
rs199422212 rs11558262 rs149319176 rs28931570 rs28931569 rs199687431 rs55819880 rs111850950 rs28931568 rs1490133295 rs199422213 rs886044322 rs28931572 rs709932 rs11558261 rs112030253 rs112030253 rs199422208 rs6647 rs28929470 rs121912714 rs17580 rs201788603 rs1802959 rs143370956 rs28929474 rs121912713 rs569384943 rs12233 rs121912712 rs199422209 rs1303 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P01009-1; Sequence=Displayed; Name=2; IsoId=P01009-2; Sequence=VSP_028889; Note=No experimental confirmation available.; Name=3; IsoId=P01009-3; Sequence=VSP_028890; 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.; 

location:
SUBCELLULAR LOCATION: Secreted. Endoplasmic reticulum. Note=The S and Z allele are not secreted effectively and accumulate intracellularly in the endoplasmic reticulum.; SUBCELLULAR LOCATION: Short peptide from AAT: Secreted, extracellular space, extracellular matrix.


uniprotID: Q8N139
geneSymbol: ABCA6
reactome: R-HSA-1369062;
name: ATP-binding cassette sub-family A member 6
length: 1617
go: ENSG00000154262;
snps: rs4968839 rs9282554 rs9282553 rs7212506 rs2302134
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; ATP binding [GO:0005524]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; lipid transport [GO:0006869]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N139-1; Sequence=Displayed; Name=2; Synonyms=ABCA6delta-139; IsoId=Q8N139-2; Sequence=VSP_020697, VSP_020698; Name=3; IsoId=Q8N139-3; Sequence=VSP_020695, VSP_020696; Note=No experimental confirmation available.; 


uniprotID: Q96SE0
geneSymbol: ABHD1
length: 405
snps: rs34127901 rs6715286 rs2304678
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
name:
Protein ABHD1 (EC 3.1.1.-) (Alpha/beta hydrolase domain-containing protein 1) (Abhydrolase domain-containing protein 1) (Lung alpha/beta hydrolase 1)

sequence:

opentargets:
integral component of membrane [GO:0016021]; acylglycerol lipase activity [GO:0047372]; lipase activity [GO:0016298]; short-chain carboxylesterase activity [GO:0034338]; cellular lipid metabolic process [GO:0044255]; medium-chain fatty acid biosynthetic process [GO:0051792]; medium-chain fatty acid catabolic process [GO:0051793]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96SE0-1; Sequence=Displayed; Name=2; IsoId=Q96SE0-3; Sequence=VSP_054269, VSP_054270; Note=No experimental confirmation available.; 


uniprotID: Q96AP0
geneSymbol: ACD
reactome: R-HSA-1221632;R-HSA-171306;R-HSA-2559586;
pdb: 2I46;5H65;5I2X;5I2Y;5UN7;5XYF;
name: Adrenocortical dysplasia protein homolog (POT1 and TIN2-interacting protein)
length: 544
go: ENSG00000102977;
snps: rs72547495 rs201441120 rs6979
sequence:

opentargets:
nuclear body [GO:0016604]; nuclear chromosome, telomeric region [GO:0000784]; nuclear telomere cap complex [GO:0000783]; nucleoplasm [GO:0005654]; shelterin complex [GO:0070187]; DNA polymerase binding [GO:0070182]; protein binding involved in negative regulation of telomere maintenance via telomerase [GO:1902496]; protein-containing complex binding [GO:0044877]; telomeric DNA binding [GO:0042162]; embryonic limb morphogenesis [GO:0030326]; establishment of protein localization to telomere [GO:0070200]; intracellular protein transport [GO:0006886]; mitotic telomere maintenance via semi-conservative replication [GO:1902990]; negative regulation of telomere maintenance via telomerase [GO:0032211]; positive regulation of single-stranded telomeric DNA binding [GO:0060381]; positive regulation of telomerase activity [GO:0051973]; positive regulation of telomere maintenance via telomerase [GO:0032212]; protection from non-homologous end joining at telomere [GO:0031848]; protein localization to chromosome, telomeric region [GO:0070198]; segmentation [GO:0035282]; skeletal system development [GO:0001501]; telomere assembly [GO:0032202]; telomere capping [GO:0016233]; telomere maintenance [GO:0000723]; telomere-telomerase complex assembly [GO:1905324]; urogenital system development [GO:0001655]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96AP0-1; Sequence=Displayed; Name=2; IsoId=Q96AP0-2; Sequence=VSP_019066; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15181449, ECO:0000269|PubMed:25205116, ECO:0000269|PubMed:25233904}. Chromosome, telomere {ECO:0000269|PubMed:15181449, ECO:0000269|PubMed:25205116, ECO:0000269|PubMed:25233904}.


uniprotID: O60706
geneSymbol: ABCC9
reactome: R-HSA-1296025;R-HSA-382556;R-HSA-5578775;R-HSA-5678420;
name: ATP-binding cassette sub-family C member 9 (Sulfonylurea receptor 2)
length: 1549
go: ENSG00000069431;
drug: DB00171;DB01016;
sequence:

opentargets:
inward rectifying potassium channel [GO:0008282]; membrane [GO:0016020]; plasma membrane [GO:0005886]; sarcolemma [GO:0042383]; sarcomere [GO:0030017]; ATP binding [GO:0005524]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; ATPase-coupled anion transmembrane transporter activity [GO:0043225]; ion channel binding [GO:0044325]; potassium channel activity [GO:0005267]; potassium channel regulator activity [GO:0015459]; sulfonylurea receptor activity [GO:0008281]; transporter activity [GO:0005215]; defense response to virus [GO:0051607]; potassium ion import [GO:0010107]; potassium ion transport [GO:0006813]; response to drug [GO:0042493]; transmembrane transport [GO:0055085]

snps:
rs387907230 rs387907211 rs387907229 rs387907210 rs35404804 rs387907228 rs387907227 rs387907209 rs387907208 rs72559751 rs387906805 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=SUR2A; IsoId=O60706-1; Sequence=Displayed; Name=SUR2B; IsoId=O60706-2; Sequence=VSP_000058; 

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


uniprotID: P17787
geneSymbol: CHRNB2
reactome: R-HSA-629587;R-HSA-629594;R-HSA-629597;
pdb: 2GVT;2K58;2K59;2KSR;2LM2;5KXI;6CNJ;6CNK;
name: Neuronal acetylcholine receptor subunit beta-2
length: 502
go: ENSG00000160716;
drug: DB05458;DB00514;DB00898;DB00674;DB00184;DB05855;DB05740;
snps: rs74315291 rs74315291 rs55685423
sequence:

opentargets:
acetylcholine-gated channel complex [GO:0005892]; cell junction [GO:0030054]; cholinergic synapse [GO:0098981]; 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 postsynaptic specialization membrane [GO:0099060]; integral component of presynaptic membrane [GO:0099056]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; plasma membrane raft [GO:0044853]; 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]; protein heterodimerization activity [GO:0046982]; acetylcholine receptor signaling pathway [GO:0095500]; action potential [GO:0001508]; associative learning [GO:0008306]; B cell activation [GO:0042113]; behavioral response to nicotine [GO:0035095]; calcium ion transport [GO:0006816]; central nervous system projection neuron axonogenesis [GO:0021952]; chemical synaptic transmission [GO:0007268]; cognition [GO:0050890]; conditioned taste aversion [GO:0001661]; ion transmembrane transport [GO:0034220]; ion transport [GO:0006811]; lateral geniculate nucleus development [GO:0021771]; learning [GO:0007612]; locomotory behavior [GO:0007626]; membrane depolarization [GO:0051899]; memory [GO:0007613]; negative regulation of action potential [GO:0045759]; nervous system process [GO:0050877]; neuromuscular synaptic transmission [GO:0007274]; optic nerve morphogenesis [GO:0021631]; positive regulation of B cell proliferation [GO:0030890]; positive regulation of dopamine secretion [GO:0033603]; positive regulation of synaptic transmission, dopaminergic [GO:0032226]; protein heterooligomerization [GO:0051291]; regulation of circadian sleep/wake cycle, non-REM sleep [GO:0045188]; regulation of circadian sleep/wake cycle, REM sleep [GO:0042320]; regulation of dendrite morphogenesis [GO:0048814]; regulation of dopamine metabolic process [GO:0042053]; regulation of dopamine secretion [GO:0014059]; regulation of membrane potential [GO:0042391]; regulation of synapse assembly [GO:0051963]; regulation of synaptic transmission, dopaminergic [GO:0032225]; regulation of synaptic vesicle exocytosis [GO:2000300]; response to acetylcholine [GO:1905144]; response to cocaine [GO:0042220]; response to ethanol [GO:0045471]; response to hypoxia [GO:0001666]; response to nicotine [GO:0035094]; sensory perception of pain [GO:0019233]; sensory perception of sound [GO:0007605]; signal transduction [GO:0007165]; smooth muscle contraction [GO:0006939]; social behavior [GO:0035176]; synaptic transmission involved in micturition [GO:0060084]; synaptic transmission, cholinergic [GO:0007271]; vestibulocochlear nerve development [GO:0021562]; visual learning [GO:0008542]; visual perception [GO:0007601]


uniprotID: Q00005
geneSymbol: PPP2R2B
length: 443
go: ENSG00000156475;
snps: rs11547494
name:
Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform (PP2A subunit B isoform B55-beta) (PP2A subunit B isoform PR55-beta) (PP2A subunit B isoform R2-beta) (PP2A subunit B isoform beta)

sequence:

opentargets:
cytoskeleton [GO:0005856]; cytosol [GO:0005829]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; protein phosphatase type 2A complex [GO:0000159]; protein phosphatase regulator activity [GO:0019888]; apoptotic process [GO:0006915]; mitotic cell cycle [GO:0000278]; peptidyl-serine dephosphorylation [GO:0070262]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; Synonyms=Bbeta, Bbeta1; IsoId=Q00005-1; Sequence=Displayed; Note=Conserved additional ATG codons are found 5' of the putative initiator codon in transcripts supporting isoform 1. They may initiate the translation of upstream short open reading frames altering the expression of that isoform as described in PubMed:1849734.; Name=2; Synonyms=Bbeta2; IsoId=Q00005-2; Sequence=VSP_037976; Note=Contains a cryptic mitochondrial transit peptide at positions 1-26. {ECO:0000250}; Name=3; IsoId=Q00005-3; Sequence=VSP_037977; Name=4; IsoId=Q00005-4; Sequence=VSP_037978; Name=5; IsoId=Q00005-5; Sequence=VSP_037979; Name=6; IsoId=Q00005-6; Sequence=VSP_044923; Name=7; IsoId=Q00005-7; Sequence=VSP_045748; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Membrane {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000250}. Mitochondrion {ECO:0000250}. Mitochondrion outer membrane {ECO:0000250}. Note=Under basal conditions, localizes to both cytosolic and mitochondrial compartments. Relocalizes from the cytosolic to the mitochondrial compartment during apoptosis. Its targeting to the outer mitochondrial membrane (OMM) involves an association with import receptors of the TOM complex and is required to promote proapoptotic activity (By similarity). {ECO:0000250}.


uniprotID: Q15057
geneSymbol: ACAP2
name: Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 (Centaurin-beta-2) (Cnt-b2)
length: 778
go: ENSG00000114331;
location: SUBCELLULAR LOCATION: Endosome membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.
sequence:

opentargets:
endosome membrane [GO:0010008]; membrane [GO:0016020]; GTPase activator activity [GO:0005096]; metal ion binding [GO:0046872]; phosphatidylinositol-3,5-bisphosphate binding [GO:0080025]; Rab GTPase binding [GO:0017137]; cellular response to nerve growth factor stimulus [GO:1990090]; endocytic recycling [GO:0032456]


uniprotID: Q9BR61
geneSymbol: ACBD6
reactome: R-HSA-77289;
pdb: 2COP;
name: Acyl-CoA-binding domain-containing protein 6
length: 282
go: ENSG00000230124;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18268358}.
sequence:

opentargets:
cytosol [GO:0005829]; fatty-acyl-CoA binding [GO:0000062]; lipid binding [GO:0008289]; acyl-CoA metabolic process [GO:0006637]


uniprotID: O00767
geneSymbol: SCD
reactome: R-HSA-2426168;R-HSA-75105;
pdb: 4ZYO;
length: 359
go: ENSG00000099194;
snps: rs2234970
name:
Acyl-CoA desaturase (EC 1.14.19.1) (Delta(9)-desaturase) (Delta-9 desaturase) (Fatty acid desaturase) (Stearoyl-CoA desaturase) (hSCD1)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; nucleolus [GO:0005730]; iron ion binding [GO:0005506]; oxidoreductase activity [GO:0016491]; stearoyl-CoA 9-desaturase activity [GO:0004768]; fatty-acyl-CoA biosynthetic process [GO:0046949]; monounsaturated fatty acid biosynthetic process [GO:1903966]; positive regulation of cold-induced thermogenesis [GO:0120162]; regulation of cholesterol biosynthetic process [GO:0045540]; unsaturated fatty acid biosynthetic process [GO:0006636]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15907797}; Multi-pass membrane protein {ECO:0000269|PubMed:18765284, ECO:0000305}.


uniprotID: Q15825
geneSymbol: CHRNA6
reactome: R-HSA-629594;R-HSA-629597;
name: Neuronal acetylcholine receptor subunit alpha-6
length: 494
go: ENSG00000147434;
drug: DB09028;DB00898;DB00674;DB00184;DB01273;
snps: rs16891583
sequence:

opentargets:
acetylcholine-gated channel complex [GO:0005892]; cell junction [GO:0030054]; dopaminergic synapse [GO:0098691]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic membrane [GO:0099055]; integral component of presynaptic membrane [GO:0099056]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; synapse [GO:0045202]; acetylcholine receptor activity [GO:0015464]; acetylcholine-gated cation-selective channel activity [GO:0022848]; ligand-gated ion channel activity [GO:0015276]; chemical synaptic transmission [GO:0007268]; ion transmembrane transport [GO:0034220]; 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]; 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=Q15825-1; Sequence=Displayed; Name=2; IsoId=Q15825-2; Sequence=VSP_042713; Note=No experimental confirmation available.; 


uniprotID: Q13131
geneSymbol: PRKAA1
reactome: R-HSA-1632852;R-HSA-380972;R-HSA-5628897;R-HSA-6804756;
pdb: 4RED;4RER;4REW;5EZV;
length: 559
go: ENSG00000132356;
drug: DB00945;DB00131;DB00171;DB00914;
snps: rs17855679 rs928784854
name:
5'-AMP-activated protein kinase catalytic subunit alpha-1 (AMPK subunit alpha-1) (EC 2.7.11.1) (Acetyl-CoA carboxylase kinase) (ACACA kinase) (EC 2.7.11.27) (Hydroxymethylglutaryl-CoA reductase kinase) (HMGCR kinase) (EC 2.7.11.31) (Tau-protein kinase PRKAA1) (EC 2.7.11.26)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; axon [GO:0030424]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; neuronal cell body [GO:0043025]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleotide-activated protein kinase complex [GO:0031588]; nucleus [GO:0005634]; [acetyl-CoA carboxylase] kinase activity [GO:0050405]; [hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity [GO:0047322]; AMP-activated protein kinase activity [GO:0004679]; ATP binding [GO:0005524]; cAMP-dependent protein kinase activity [GO:0004691]; chromatin binding [GO:0003682]; histone serine kinase activity [GO:0035174]; metal ion binding [GO:0046872]; protein C-terminus binding [GO:0008022]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; tau-protein kinase activity [GO:0050321]; activation of MAPK activity [GO:0000187]; CAMKK-AMPK signaling cascade [GO:0061762]; cell cycle arrest [GO:0007050]; cellular response to calcium ion [GO:0071277]; cellular response to ethanol [GO:0071361]; cellular response to glucose starvation [GO:0042149]; cellular response to glucose stimulus [GO:0071333]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to hypoxia [GO:0071456]; cellular response to nutrient levels [GO:0031669]; cellular response to organonitrogen compound [GO:0071417]; cellular response to oxidative stress [GO:0034599]; cellular response to prostaglandin E stimulus [GO:0071380]; cholesterol biosynthetic process [GO:0006695]; cold acclimation [GO:0009631]; energy homeostasis [GO:0097009]; fatty acid biosynthetic process [GO:0006633]; fatty acid homeostasis [GO:0055089]; fatty acid oxidation [GO:0019395]; glucose homeostasis [GO:0042593]; glucose metabolic process [GO:0006006]; intracellular signal transduction [GO:0035556]; lipid biosynthetic process [GO:0008610]; macroautophagy [GO:0016236]; motor behavior [GO:0061744]; negative regulation of apoptotic process [GO:0043066]; negative regulation of gene expression [GO:0010629]; negative regulation of glucose import in response to insulin stimulus [GO:2001274]; negative regulation of glucosylceramide biosynthetic process [GO:0046318]; negative regulation of lipid catabolic process [GO:0050995]; negative regulation of TOR signaling [GO:0032007]; negative regulation of tubulin deacetylation [GO:1904428]; neuron cellular homeostasis [GO:0070050]; positive regulation of autophagy [GO:0010508]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cellular protein localization [GO:1903829]; positive regulation of cholesterol biosynthetic process [GO:0045542]; positive regulation of gene expression [GO:0010628]; positive regulation of glycolytic process [GO:0045821]; positive regulation of mitochondrial transcription [GO:1903109]; positive regulation of peptidyl-lysine acetylation [GO:2000758]; positive regulation of protein targeting to mitochondrion [GO:1903955]; positive regulation of skeletal muscle tissue development [GO:0048643]; protein heterooligomerization [GO:0051291]; protein phosphorylation [GO:0006468]; regulation of circadian rhythm [GO:0042752]; regulation of microtubule cytoskeleton organization [GO:0070507]; regulation of peptidyl-serine phosphorylation [GO:0033135]; regulation of stress granule assembly [GO:0062028]; regulation of vesicle-mediated transport [GO:0060627]; response to activity [GO:0014823]; response to caffeine [GO:0031000]; response to camptothecin [GO:1901563]; response to gamma radiation [GO:0010332]; response to hypoxia [GO:0001666]; response to UV [GO:0009411]; rhythmic process [GO:0048511]; signal transduction [GO:0007165]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13131-1; Sequence=Displayed; Name=2; IsoId=Q13131-2; Sequence=VSP_035431; 

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


uniprotID: Q9NRW3
geneSymbol: APOBEC3C
reactome: R-HSA-72200;R-HSA-75094;
pdb: 3VM8;3VOW;
name: DNA dC->dU-editing enzyme APOBEC-3C (A3C) (EC 3.5.4.-) (APOBEC1-like) (Phorbolin I)
length: 190
go: ENSG00000244509;
location: SUBCELLULAR LOCATION: Nucleus. Cytoplasm.
sequence:
MNPQIRNPMKAMYPGTFYFQFKNLWEANDRNETWLCFTVEGIKRRSVVSWKTGVFRNQVDSETHCHAERCFLSWFCDDILSPNTKYQVTWYTSWSPCPDCAGEVAEFLARHSNVNLTIFTARLYYFQYPCYQEGLRSLSQEGVAVEIMDYEDFKYCWENFVYNDNEPFKPWKGLKTNFRLLKRRLRESLQ

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; P-body [GO:0000932]; cytidine deaminase activity [GO:0004126]; RNA binding [GO:0003723]; zinc ion binding [GO:0008270]; cytidine deamination [GO:0009972]; 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]; viral process [GO:0016032]


uniprotID: P10323
geneSymbol: ACR
reactome: R-HSA-1300645;
name: Acrosin (EC 3.4.21.10) [Cleaved into: Acrosin light chain; Acrosin heavy chain]
length: 421
go: ENSG00000100312;
snps: rs1064734 rs1064735
sequence:

opentargets:
acrosomal matrix [GO:0043159]; extracellular region [GO:0005576]; Golgi-associated vesicle [GO:0005798]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; amidase activity [GO:0004040]; copper ion binding [GO:0005507]; DNA binding [GO:0003677]; drug binding [GO:0008144]; fucose binding [GO:0042806]; mannose binding [GO:0005537]; protease binding [GO:0002020]; serine-type endopeptidase activity [GO:0004252]; zinc ion binding [GO:0008270]; acrosome matrix dispersal [GO:0002077]; acrosome reaction [GO:0007340]; activation of adenylate cyclase activity [GO:0007190]; binding of sperm to zona pellucida [GO:0007339]; penetration of zona pellucida [GO:0007341]; response to steroid hormone [GO:0048545]; single fertilization [GO:0007338]


uniprotID: P01023
geneSymbol: A2M
reactome: R-HSA-114608;R-HSA-140837;R-HSA-1474228;R-HSA-194840;R-HSA-8963896;
pdb: 1BV8;2P9R;4ACQ;
length: 1474
go: ENSG00000175899;
drug: DB00626;DB00102;DB08888;
snps: rs226405 rs1800434 rs3180392 rs1800433 rs669
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:6203908}.
name:
Alpha-2-macroglobulin (Alpha-2-M) (C3 and PZP-like alpha-2-macroglobulin domain-containing protein 5)

sequence:

opentargets:
blood microparticle [GO:0072562]; collagen-containing extracellular matrix [GO:0062023]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; platelet alpha granule lumen [GO:0031093]; calcium-dependent protein binding [GO:0048306]; enzyme binding [GO:0019899]; growth factor binding [GO:0019838]; GTPase activator activity [GO:0005096]; interleukin-1 binding [GO:0019966]; interleukin-8 binding [GO:0019959]; protease binding [GO:0002020]; serine-type endopeptidase inhibitor activity [GO:0004867]; signaling receptor binding [GO:0005102]; tumor necrosis factor binding [GO:0043120]; blood coagulation, intrinsic pathway [GO:0007597]; extracellular matrix disassembly [GO:0022617]; negative regulation of complement activation, lectin pathway [GO:0001869]; platelet degranulation [GO:0002576]; regulation of small GTPase mediated signal transduction [GO:0051056]; stem cell differentiation [GO:0048863]


uniprotID: Q9H172
geneSymbol: ABCG4
reactome: R-HSA-1369062;
name: ATP-binding cassette sub-family G member 4
length: 646
go: ENSG00000172350;
snps: rs35060365
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; cholesterol transporter activity [GO:0017127]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; sterol-transporting ATPase activity [GO:0034041]; cellular response to leukemia inhibitory factor [GO:1990830]; cholesterol efflux [GO:0033344]; cholesterol transport [GO:0030301]; transmembrane transport [GO:0055085]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=B; IsoId=Q9H172-1; Sequence=Displayed; Name=2; Synonyms=T3, T4; IsoId=Q9H172-2; Sequence=VSP_054267; Name=3; Synonyms=M, T1; IsoId=Q9H172-3; Sequence=VSP_054268; Name=4; Synonyms=T2; IsoId=Q9H172-4; Sequence=VSP_054266; 


uniprotID: Q8NFV4
geneSymbol: ABHD11
length: 315
go: ENSG00000106077;
opentargets: mitochondrion [GO:0005739]; hydrolase activity [GO:0016787]
name:
Protein ABHD11 (EC 3.-.-.-) (Alpha/beta hydrolase domain-containing protein 11) (Abhydrolase domain-containing protein 11) (Williams-Beuren syndrome chromosomal region 21 protein)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=A; IsoId=Q8NFV4-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q8NFV4-2; Sequence=VSP_023925, VSP_023928; Name=3; Synonyms=C; IsoId=Q8NFV4-3; Sequence=VSP_023926, VSP_023927; Name=4; Synonyms=D; IsoId=Q8NFV4-4; Sequence=VSP_023924; Name=5; Synonyms=E; IsoId=Q8NFV4-5; Sequence=VSP_023924, VSP_023929, VSP_023930; Name=6; IsoId=Q8NFV4-6; Sequence=VSP_046994; Note=Gene prediction based on EST data.; 


uniprotID: Q7L211
geneSymbol: ABHD13
length: 337
go: ENSG00000139826;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
name:
Protein ABHD13 (EC 3.-.-.-) (Alpha/beta hydrolase domain-containing protein 13) (Abhydrolase domain-containing protein 13)

sequence:

opentargets:
dendrite cytoplasm [GO:0032839]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; palmitoyl-(protein) hydrolase activity [GO:0008474]; protein depalmitoylation [GO:0002084]


uniprotID: A7E2S9
geneSymbol: ANKRD30BL
name: Putative ankyrin repeat domain-containing protein 30B-like
length: 258
go: ENSG00000163046;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A7E2S9-1; Sequence=Displayed; Note=Gene prediction based on EST data.; Name=2; IsoId=A7E2S9-2; Sequence=VSP_039808; 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: P07108
geneSymbol: DBI
reactome: R-HSA-77289;
pdb: 2CB8;2FJ9;
name: Acyl-CoA-binding protein (ACBP) (Diazepam-binding inhibitor) (DBI) (Endozepine) (EP)
sequence: MSQAEFEKAAEEVRHLKTKPSDEEMLFIYGHYKQATVGDINTERPGMLDFTGKAKWDAWNELKGTSKEDAMKAYINKVEELKKKYGI
length: 87
go: ENSG00000155368;
drug: DB01992;DB03381;
snps: rs8192504 rs8192506 rs8192507
opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; perinuclear endoplasmic reticulum [GO:0097038]; benzodiazepine receptor binding [GO:0030156]; lipid binding [GO:0008289]; long-chain fatty acyl-CoA binding [GO:0036042]; protein dimerization activity [GO:0046983]; acyl-CoA metabolic process [GO:0006637]; phosphatidylcholine acyl-chain remodeling [GO:0036151]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=6;  Name=1; Synonyms=ACBP-1a, Short; IsoId=P07108-1; Sequence=Displayed; Name=2; Synonyms=ACBP-1b, Long; IsoId=P07108-2; Sequence=VSP_000068; Name=3; Synonyms=ACBP-1c; IsoId=P07108-3; Sequence=VSP_038680; Name=4; Synonyms=ACBP-1a1-g; IsoId=P07108-4; Sequence=VSP_043437; Name=5; Synonyms=ACBP-1g; IsoId=P07108-5; Sequence=VSP_043438; Name=6; Synonyms=ACBP-1e; IsoId=P07108-6; Sequence=VSP_044114; Note=Predominantly expressed in adipose tissue and hippocampus.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000269|PubMed:17953517, ECO:0000269|PubMed:21698759}. Golgi apparatus {ECO:0000269|PubMed:17953517, ECO:0000269|PubMed:21698759}. Note=Golgi localization is dependent on ligand binding (PubMed:17953517). {ECO:0000269|PubMed:17953517}.


uniprotID: Q07001
geneSymbol: CHRND
reactome: R-HSA-629587;
name: Acetylcholine receptor subunit delta
length: 517
go: ENSG00000135902;
drug: DB00674;
snps: rs121909509 rs121909504 rs121909506 rs760395222 rs121909503 rs41265127 rs121909502 rs145955590
sequence:

opentargets:
acetylcholine-gated channel complex [GO:0005892]; cell junction [GO:0030054]; cytosol [GO:0005829]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic specialization membrane [GO:0099060]; neuromuscular junction [GO:0031594]; neuron projection [GO:0043005]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; synapse [GO:0045202]; acetylcholine binding [GO:0042166]; acetylcholine-gated cation-selective channel activity [GO:0022848]; ligand-gated ion channel activity [GO:0015276]; transmembrane signaling receptor activity [GO:0004888]; transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential [GO:1904315]; chemical synaptic transmission [GO:0007268]; ion transmembrane transport [GO:0034220]; muscle contraction [GO:0006936]; musculoskeletal movement [GO:0050881]; nervous system process [GO:0050877]; neuromuscular process [GO:0050905]; neuromuscular synaptic transmission [GO:0007274]; 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]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q07001-1; Sequence=Displayed; Name=2; IsoId=Q07001-2; Sequence=VSP_046423; Note=No experimental confirmation available.; 


uniprotID: P12821
geneSymbol: ACE
reactome: R-HSA-2022377;
length: 1306
go: ENSG00000159640;
pdb:
1O86;1O8A;1UZE;1UZF;2C6F;2C6N;2IUL;2IUX;2OC2;2XY9;2XYD;2YDM;3BKK;3BKL;3L3N;3NXQ;4APH;4APJ;4BXK;4BZR;4BZS;4C2N;4C2O;4C2P;4C2Q;4C2R;4CA5;4CA6;4UFA;4UFB;5AM8;5AM9;5AMA;5AMB;5AMC;6EN5;6EN6;6F9R;6F9T;6F9U;6F9V;

name:
Angiotensin-converting enzyme (ACE) (EC 3.2.1.-) (EC 3.4.15.1) (Dipeptidyl carboxypeptidase I) (Kininase II) (CD antigen CD143) [Cleaved into: Angiotensin-converting enzyme, soluble form]

sequence:

opentargets:
endosome [GO:0005768]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; lysosome [GO:0005764]; plasma membrane [GO:0005886]; actin binding [GO:0003779]; bradykinin receptor binding [GO:0031711]; carboxypeptidase activity [GO:0004180]; chloride ion binding [GO:0031404]; dipeptidyl-peptidase activity [GO:0008239]; drug binding [GO:0008144]; endopeptidase activity [GO:0004175]; exopeptidase activity [GO:0008238]; metallodipeptidase activity [GO:0070573]; metallopeptidase activity [GO:0008237]; mitogen-activated protein kinase binding [GO:0051019]; mitogen-activated protein kinase kinase binding [GO:0031434]; peptidyl-dipeptidase activity [GO:0008241]; tripeptidyl-peptidase activity [GO:0008240]; zinc ion binding [GO:0008270]; amyloid-beta metabolic process [GO:0050435]; angiotensin maturation [GO:0002003]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; arachidonic acid secretion [GO:0050482]; blood vessel remodeling [GO:0001974]; cell proliferation in bone marrow [GO:0071838]; heart contraction [GO:0060047]; hematopoietic stem cell differentiation [GO:0060218]; hormone catabolic process [GO:0042447]; kidney development [GO:0001822]; mononuclear cell proliferation [GO:0032943]; negative regulation of gap junction assembly [GO:1903597]; negative regulation of gene expression [GO:0010629]; negative regulation of protein binding [GO:0032091]; neutrophil mediated immunity [GO:0002446]; peptide catabolic process [GO:0043171]; positive regulation of blood pressure [GO:0045777]; positive regulation of peptidyl-cysteine S-nitrosylation [GO:2000170]; positive regulation of peptidyl-tyrosine autophosphorylation [GO:1900086]; positive regulation of protein binding [GO:0032092]; positive regulation of protein tyrosine kinase activity [GO:0061098]; positive regulation of systemic arterial blood pressure [GO:0003084]; posttranscriptional regulation of gene expression [GO:0010608]; proteolysis [GO:0006508]; regulation of angiotensin metabolic process [GO:0060177]; regulation of blood pressure [GO:0008217]; regulation of blood vessel diameter [GO:0097746]; regulation of hematopoietic stem cell proliferation [GO:1902033]; regulation of renal output by angiotensin [GO:0002019]; regulation of smooth muscle cell migration [GO:0014910]; regulation of systemic arterial blood pressure by renin-angiotensin [GO:0003081]; regulation of vasoconstriction [GO:0019229]; spermatogenesis [GO:0007283]

drug:
DB02032;DB00542;DB00616;DB01197;DB01340;DB00584;DB09477;DB00492;DB00722;DB00691;DB03740;DB00886;DB00790;DB00881;DB00178;DB01180;DB01348;DB08836;DB00519;DB13166;

snps:
rs13306087 rs12720754 rs3730025 rs4302 rs4303 rs4303 rs989500910 rs2229839 rs56394458 rs13306085 rs12720746 rs4314 rs12709426 rs13306091 rs3730043 rs4976 rs4977 rs12709442 rs121912703 rs4980 rs4364 rs4981 rs4317 rs4318 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=Somatic-1; IsoId=P12821-1; Sequence=Displayed; Name=Somatic-2; Synonyms=Soluble; IsoId=P12821-2; Sequence=VSP_029932, VSP_029933; Note=Incomplete sequence.; Name=Testis-specific; Synonyms=ACE-T; IsoId=P12821-3, P22966-1; Sequence=VSP_035120, VSP_035121; Name=4; IsoId=P12821-4; Sequence=VSP_054836, VSP_054837; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Angiotensin-converting enzyme, soluble form: Secreted.; SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Cytoplasm {ECO:0000250}. Note=Detected in both cell membrane and cytoplasm in neurons. {ECO:0000250}.


uniprotID: P46952
geneSymbol: HAAO
reactome: R-HSA-71240;
pdb: 2QNK;5TK5;5TKQ;
length: 286
go: ENSG00000162882;
snps: rs3816183 rs3816182
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000305|PubMed:7514594}.
name:
3-hydroxyanthranilate 3,4-dioxygenase (EC 1.13.11.6) (3-hydroxyanthranilate oxygenase) (3-HAO) (h3HAO) (3-hydroxyanthranilic acid dioxygenase) (HAD)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; 3-hydroxyanthranilate 3,4-dioxygenase activity [GO:0000334]; electron transfer activity [GO:0009055]; ferrous iron binding [GO:0008198]; 'de novo' NAD biosynthetic process from tryptophan [GO:0034354]; anthranilate metabolic process [GO:0043420]; NAD biosynthetic process [GO:0009435]; neuron cellular homeostasis [GO:0070050]; quinolinate biosynthetic process [GO:0019805]; quinolinate metabolic process [GO:0046874]; response to cadmium ion [GO:0046686]; response to zinc ion [GO:0010043]; tryptophan catabolic process [GO:0006569]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P46952-1; Sequence=Displayed; Name=2; IsoId=P46952-2; Sequence=VSP_036239; 


uniprotID: P30490
geneSymbol: HLA-B
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
pdb: 3W39;
length: 362
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
HLA class I histocompatibility antigen, B-52 alpha chain (Bw-52) (HLA class I histocompatibility antigen, B-5 alpha chain) (MHC class I antigen B*52)

sequence:


uniprotID: Q9BTE6
geneSymbol: AARSD1
name: Alanyl-tRNA editing protein Aarsd1 (Alanyl-tRNA synthetase domain-containing protein 1)
length: 412
go: ENSG00000108825;ENSG00000266967;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; alanine-tRNA ligase activity [GO:0004813]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; nucleic acid binding [GO:0003676]; Ser-tRNA(Ala) hydrolase activity [GO:0002196]; alanyl-tRNA aminoacylation [GO:0006419]; regulation of translational fidelity [GO:0006450]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BTE6-1; Sequence=Displayed; Name=2; IsoId=Q9BTE6-2; Sequence=VSP_023014; Note=Based on a readthrough transcript which may produce a PTGES3L-AARSD1 fusion protein. No experimental confirmation available.; Name=3; IsoId=Q9BTE6-3; Sequence=VSP_043142; Note=Based on a readthrough transcript which may produce a PTGES3L-AARSD1 fusion protein. No experimental confirmation available.; 


uniprotID: P30479
geneSymbol: HLA-B
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
pdb: 3LN4;3LN5;
name: HLA class I histocompatibility antigen, B-41 alpha chain (Bw-41) (MHC class I antigen B*41)
length: 362
snps: rs1050462 rs1131165 rs1050654 rs1131500 rs1051488 rs2308655 rs2308655
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:


uniprotID: Q8TDX5
geneSymbol: ACMSD
reactome: R-HSA-71240;
pdb: 2WM1;4IGM;4IGN;4IH3;4OFC;
name: 2-amino-3-carboxymuconate-6-semialdehyde decarboxylase (EC 4.1.1.45) (Picolinate carboxylase)
length: 336
go: ENSG00000153086;
sequence:

opentargets:
cytosol [GO:0005829]; aminocarboxymuconate-semialdehyde decarboxylase activity [GO:0001760]; hydrolase activity [GO:0016787]; zinc ion binding [GO:0008270]; negative regulation of quinolinate biosynthetic process [GO:1904985]; picolinic acid biosynthetic process [GO:1905004]; protein complex oligomerization [GO:0051259]; regulation of 'de novo' NAD biosynthetic process from tryptophan [GO:1905012]; tryptophan catabolic process [GO:0006569]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:12140278}; IsoId=Q8TDX5-1; Sequence=Displayed; Name=2 {ECO:0000305}; IsoId=Q8TDX5-2; Sequence=VSP_050622, VSP_050623; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: O00590
geneSymbol: ACKR2
length: 384
go: ENSG00000144648;
snps: rs2228467 rs2228469 rs6779520 rs2228468
name:
Atypical chemokine receptor 2 (C-C chemokine receptor D6) (Chemokine receptor CCR-10) (Chemokine receptor CCR-9) (Chemokine-binding protein 2) (Chemokine-binding protein D6)

sequence:

opentargets:
actin filament [GO:0005884]; cytosol [GO:0005829]; early endosome [GO:0005769]; external side of plasma membrane [GO:0009897]; integral component of plasma membrane [GO:0005887]; intracellular membrane-bounded organelle [GO:0043231]; nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; recycling endosome [GO:0055037]; C-C chemokine binding [GO:0019957]; C-C chemokine receptor activity [GO:0016493]; chemokine binding [GO:0019956]; chemokine receptor activity [GO:0004950]; scavenger receptor activity [GO:0005044]; calcium-mediated signaling [GO:0019722]; cell chemotaxis [GO:0060326]; chemotaxis [GO:0006935]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; inflammatory response [GO:0006954]; multicellular organism development [GO:0007275]; positive regulation of cytosolic calcium ion concentration [GO:0007204]

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


uniprotID: Q96GS6
geneSymbol: ABHD17A
length: 310
go: ENSG00000129968;
name:
Alpha/beta hydrolase domain-containing protein 17A (Abhydrolase domain-containing protein 17A) (EC 3.1.2.22)

sequence:

opentargets:
anchored component of postsynaptic density membrane [GO:0099031]; anchored component of postsynaptic recycling endosome membrane [GO:0099033]; cell junction [GO:0030054]; dendritic spine [GO:0043197]; endosome membrane [GO:0010008]; glutamatergic synapse [GO:0098978]; membrane [GO:0016020]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; palmitoyl-(protein) hydrolase activity [GO:0008474]; negative regulation of protein localization to microtubule [GO:1902817]; positive regulation of protein localization to endosome [GO:1905668]; protein depalmitoylation [GO:0002084]; protein localization to membrane [GO:0072657]; protein palmitoylation [GO:0018345]; regulation of postsynapse organization [GO:0099175]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96GS6-1; Sequence=Displayed; Name=2; IsoId=Q96GS6-2; Sequence=VSP_027268; Name=3; IsoId=Q96GS6-3; Sequence=VSP_027269, VSP_027270; Name=4; IsoId=Q96GS6-4; Sequence=VSP_027271; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26701913}; Lipid-anchor {ECO:0000269|PubMed:26701913}; Cytoplasmic side {ECO:0000269|PubMed:26701913}. Endosome membrane {ECO:0000269|PubMed:26701913}; Lipid-anchor {ECO:0000269|PubMed:26701913}; Cytoplasmic side {ECO:0000269|PubMed:26701913}. Cell projection, dendritic spine {ECO:0000250|UniProtKB:Q5XIJ5}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250|UniProtKB:Q5XIJ5}.


uniprotID: Q15067
geneSymbol: ACOX1
reactome: R-HSA-1989781;R-HSA-2046106;R-HSA-390247;R-HSA-9033241;R-HSA-9033500;
length: 660
go: ENSG00000161533;
drug: DB07930;DB03147;
snps: rs3744032 rs17855420 rs118204091 rs780887410 rs118204090 rs118204092 rs758962364 rs1135640
location: SUBCELLULAR LOCATION: Peroxisome {ECO:0000250|UniProtKB:P07872}.
name:
Peroxisomal acyl-coenzyme A oxidase 1 (AOX) (EC 1.3.3.6) (Palmitoyl-CoA oxidase) (Straight-chain acyl-CoA oxidase) (SCOX)

sequence:

opentargets:
cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; peroxisomal matrix [GO:0005782]; peroxisomal membrane [GO:0005778]; peroxisome [GO:0005777]; plasma membrane [GO:0005886]; acyl-CoA oxidase activity [GO:0003997]; FAD binding [GO:0071949]; fatty acid binding [GO:0005504]; flavin adenine dinucleotide binding [GO:0050660]; palmitoyl-CoA oxidase activity [GO:0016401]; PDZ domain binding [GO:0030165]; protein N-terminus binding [GO:0047485]; signaling receptor binding [GO:0005102]; alpha-linolenic acid metabolic process [GO:0036109]; cholesterol homeostasis [GO:0042632]; fatty acid beta-oxidation using acyl-CoA oxidase [GO:0033540]; fatty acid oxidation [GO:0019395]; generation of precursor metabolites and energy [GO:0006091]; lipid homeostasis [GO:0055088]; lipid metabolic process [GO:0006629]; peroxisome fission [GO:0016559]; prostaglandin metabolic process [GO:0006693]; protein targeting to peroxisome [GO:0006625]; regulation of lipid metabolic process [GO:0019216]; spermatogenesis [GO:0007283]; very long-chain fatty acid metabolic process [GO:0000038]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=ACOX1a, SCOX-exon 3I; IsoId=Q15067-1; Sequence=Displayed; Name=2; Synonyms=ACOX1b, SCOX-exon 3II; IsoId=Q15067-2; Sequence=VSP_000146; Name=3; IsoId=Q15067-3; Sequence=VSP_046129, VSP_000146; Note=No experimental confirmation available.; 


uniprotID: P42025
geneSymbol: ACTR1B
reactome: R-HSA-2132295;R-HSA-6798695;
name: Beta-centractin (Actin-related protein 1B) (ARP1B)
length: 376
go: ENSG00000115073;
snps: rs11547231 rs11692435
sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dynactin complex [GO:0005869]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; membrane [GO:0016020]; microtubule cytoskeleton [GO:0015630]; secretory granule lumen [GO:0034774]; ATP binding [GO:0005524]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; neutrophil degranulation [GO:0043312]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.


uniprotID: Q08AH1
geneSymbol: ACSM1
reactome: R-HSA-177135;R-HSA-177162;
length: 577
go: ENSG00000166743;
snps: rs16970511 rs8056709 rs16970453
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250}.
name:
Acyl-coenzyme A synthetase ACSM1, mitochondrial (EC 6.2.1.2) (Acyl-CoA synthetase medium-chain family member 1) (Butyrate--CoA ligase 1) (Butyryl-coenzyme A synthetase 1) (Lipoate-activating enzyme) (Middle-chain acyl-CoA synthetase 1)

sequence:

opentargets:
blood microparticle [GO:0072562]; extracellular exosome [GO:0070062]; mitochondrial matrix [GO:0005759]; 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]; GTP binding [GO:0005525]; metal ion binding [GO:0046872]; acyl-CoA metabolic process [GO:0006637]; benzoate metabolic process [GO:0018874]; butyrate metabolic process [GO:0019605]; cholesterol homeostasis [GO:0042632]; energy derivation by oxidation of organic compounds [GO:0015980]; fatty acid biosynthetic process [GO:0006633]; fatty acid oxidation [GO:0019395]; xenobiotic metabolic process [GO:0006805]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q08AH1-1; Sequence=Displayed; Name=2; IsoId=Q08AH1-2; Sequence=VSP_028391; 


uniprotID: P30486
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-48 alpha chain (Bw-48) (MHC class I antigen B*48)
length: 362
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

snps:
rs1050458 rs1050462 rs1131165 rs1131170 rs1050486 rs713031 rs713031 rs713031 rs1050529 rs1050388 rs1050379 rs1050654 rs2308466 rs2308466 rs2523600 rs2523600 rs2308466 rs1050696 rs1131500 rs1051488 rs2308655 rs2308655 


uniprotID: P30487
geneSymbol: HLA-B
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
length: 362
snps: rs1050462 rs1131165
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
HLA class I histocompatibility antigen, B-49 alpha chain (HLA class I histocompatibility antigen, B-21 alpha chain) (MHC class I antigen B*49)

sequence:


uniprotID: O95342
geneSymbol: ABCB11
reactome: R-HSA-159418;R-HSA-193368;R-HSA-5678520;
name: Bile salt export pump (ATP-binding cassette sub-family B member 11)
length: 1321
go: ENSG00000073734;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; bile acid-exporting ATPase activity [GO:0015432]; canalicular bile acid transmembrane transporter activity [GO:0015126]; sodium-exporting ATPase activity, phosphorylative mechanism [GO:0008554]; transporter activity [GO:0005215]; bile acid and bile salt transport [GO:0015721]; bile acid biosynthetic process [GO:0006699]; canalicular bile acid transport [GO:0015722]

drug:
DB00171;DB00559;DB00477;DB02659;DB00501;DB00845;DB00091;DB00694;DB03619;DB01234;DB00390;DB00997;DB00977;DB00693;DB02703;DB01016;DB02123;DB01026;DB01051;DB01229;DB01174;DB08901;DB00175;DB00396;DB00908;DB00206;DB01045;DB01098;DB00675;DB04348;DB00197;DB01586;DB00661;DB00570;DB00541;

snps:
rs11568361 rs72551307 rs11568357 rs72551306 rs200739891 rs11568372 rs2287617 rs72551305 rs371656014 rs121908935 rs2287622 rs2287622 rs2287622 rs369860506 rs72549402 rs886043807 rs11568367 rs912519986 rs11568364 rs376216286 rs138642043 rs118109635 rs777469571 rs72549400 rs761363245 rs72549399 rs72549398 rs756220860 rs72549395 rs1521808 rs72549394 


uniprotID: Q08462
geneSymbol: ADCY2
length: 1091
go: ENSG00000078295;
drug: DB02587;
snps: rs13166360 rs34043481
name:
Adenylate cyclase type 2 (EC 4.6.1.1) (ATP pyrophosphate-lyase 2) (Adenylate cyclase type II) (Adenylyl cyclase 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; dendrite [GO:0030425]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; adenylate cyclase activity [GO:0004016]; adenylate cyclase binding [GO:0008179]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; manganese ion binding [GO:0030145]; protein heterodimerization activity [GO:0046982]; 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]; cAMP-mediated signaling [GO:0019933]; cellular response to forskolin [GO:1904322]; 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=Q08462-1; Sequence=Displayed; Name=2; IsoId=Q08462-2; Sequence=VSP_055811, VSP_055812; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:15385642}; Multi-pass membrane protein {ECO:0000305}. Cell membrane {ECO:0000269|PubMed:11549699, ECO:0000269|PubMed:21228062}; Multi-pass membrane protein {ECO:0000305}. Cytoplasm {ECO:0000269|PubMed:11549699}.


uniprotID: P06280
geneSymbol: GLA
reactome: R-HSA-1660662;R-HSA-6798695;
pdb: 1R46;1R47;3GXN;3GXP;3GXT;3HG2;3HG3;3HG4;3HG5;3LX9;3LXA;3LXB;3LXC;3S5Y;3S5Z;3TV8;4NXS;
length: 429
go: ENSG00000102393;
drug: DB05018;
location: SUBCELLULAR LOCATION: Lysosome.
name:
Alpha-galactosidase A (EC 3.2.1.22) (Alpha-D-galactosidase A) (Alpha-D-galactoside galactohydrolase) (Melibiase) (Agalsidase)

sequence:

opentargets:
azurophil granule lumen [GO:0035578]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; Golgi apparatus [GO:0005794]; lysosomal lumen [GO:0043202]; lysosome [GO:0005764]; alpha-galactosidase activity [GO:0004557]; catalytic activity [GO:0003824]; galactoside binding [GO:0016936]; hydrolase activity [GO:0016787]; protein homodimerization activity [GO:0042803]; raffinose alpha-galactosidase activity [GO:0052692]; signaling receptor binding [GO:0005102]; glycoside catabolic process [GO:0016139]; glycosphingolipid catabolic process [GO:0046479]; glycosphingolipid metabolic process [GO:0006687]; glycosylceramide catabolic process [GO:0046477]; negative regulation of nitric oxide biosynthetic process [GO:0045019]; negative regulation of nitric-oxide synthase activity [GO:0051001]; neutrophil degranulation [GO:0043312]; oligosaccharide metabolic process [GO:0009311]

snps:
rs150547672 rs869312133 rs869312134 rs104894847 rs869312135 rs869312448 rs869312136 rs104894835 rs869312137 rs869312138 rs104894831 rs797044613 rs398123201 rs398123203 rs869312254 rs398123205 rs1057521047 rs869312256 rs869312258 rs104894836 rs869312258 rs869312262 rs869312139 rs104894848 rs104894833 rs781927744 rs781838005 rs869312140 rs869312141 rs869312141 rs886041315 rs869312270 rs113173389 rs869312273 rs104894834 rs372966991 rs869312142 rs869312142 rs782197638 rs869312298 rs886044845 rs104894845 rs104894845 rs104894837 rs869312143 rs28935195 rs869312307 rs869312311 rs28935196 rs869312144 rs869312318 rs869312145 rs869312146 rs869312340 rs869312147 rs727503950 rs104894838 rs869312344 rs869312148 rs397515870 rs869312149 rs869312150 rs28935197 rs869312151 rs869312381 rs869312383 rs104894840 rs104894840 rs869312152 rs797044746 rs869312386 rs397515873 rs397515874 rs727503948 rs869312393 rs727505292 rs869312153 rs869312399 rs869312399 rs869312154 rs869312404 rs28935486 rs190347120 rs869312407 rs28935487 rs730880451 rs28935488 rs28935488 rs28935495 rs869312432 rs28935485 rs869312437 rs140329381 rs140329381 rs104894846 rs104894830 rs28935489 rs104894828 rs869312155 rs28935490 rs28935490 rs869312156 rs869312157 rs869312158 rs730880439 rs869312159 rs28935491 rs869312160 rs869312160 rs28935492 rs104894832 rs869312161 rs869312214 rs28935493 rs869312162 rs869312163 rs869312163 rs104894827 rs797044774 rs782598150 rs28935494 rs111422676 rs869312227 rs727504348 rs869312164 rs869312165 rs782449839 rs104894852 


