# annotation

uniprotID: Q92831
geneSymbol: KAT2B
length: 832
go: ENSG00000114166;
drug: DB08186;DB01992;DB08291;
snps: rs17006625
reactome:
R-HSA-1912408;R-HSA-2032785;R-HSA-210744;R-HSA-2122947;R-HSA-2644606;R-HSA-2894862;R-HSA-3214847;R-HSA-350054;R-HSA-5250924;R-HSA-5578768;R-HSA-5689901;R-HSA-73762;R-HSA-8936459;R-HSA-8941856;R-HSA-9013508;R-HSA-9013695;R-HSA-9018519;

pdb:
1CM0;1JM4;1N72;1WUG;1WUM;1ZS5;2RNW;2RNX;3GG3;4NSQ;5FDZ;5FE0;5FE1;5FE2;5FE3;5FE4;5FE5;5FE6;5FE7;5FE8;5FE9;5LVQ;5LVR;5MKX;

name:
Histone acetyltransferase KAT2B (EC 2.3.1.48) (Histone acetyltransferase PCAF) (Histone acetylase PCAF) (Lysine acetyltransferase 2B) (P300/CBP-associated factor) (P/CAF)

sequence:

opentargets:
A band [GO:0031672]; actomyosin [GO:0042641]; Ada2/Gcn5/Ada3 transcription activator complex [GO:0005671]; centrosome [GO:0005813]; I band [GO:0031674]; kinetochore [GO:0000776]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PCAF complex [GO:0000125]; protein-containing complex [GO:0032991]; acetyltransferase activity [GO:0016407]; chromatin binding [GO:0003682]; cyclin-dependent protein serine/threonine kinase inhibitor activity [GO:0004861]; histone acetyltransferase activity [GO:0004402]; histone deacetylase binding [GO:0042826]; lysine N-acetyltransferase activity, acting on acetyl phosphate as donor [GO:0004468]; peptide-lysine-N-acetyltransferase activity [GO:0061733]; protein kinase binding [GO:0019901]; protein-containing complex binding [GO:0044877]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription coactivator activity [GO:0003713]; transcription coregulator activity [GO:0003712]; transcription factor binding [GO:0008134]; cell cycle arrest [GO:0007050]; cellular response to insulin stimulus [GO:0032869]; chromatin remodeling [GO:0006338]; heart development [GO:0007507]; histone H3 acetylation [GO:0043966]; histone H3-K9 acetylation [GO:0043970]; internal peptidyl-lysine acetylation [GO:0018393]; limb development [GO:0060173]; N-terminal peptidyl-lysine acetylation [GO:0018076]; negative regulation of cell proliferation [GO:0008285]; negative regulation of centriole replication [GO:0046600]; Notch signaling pathway [GO:0007219]; peptidyl-lysine acetylation [GO:0018394]; positive regulation of gene expression, epigenetic [GO:0045815]; positive regulation of gluconeogenesis by positive regulation of transcription from RNA polymerase II promoter [GO:0035948]; positive regulation of Notch signaling pathway [GO:0045747]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription of Notch receptor target [GO:0007221]; protein acetylation [GO:0006473]; regulation of megakaryocyte differentiation [GO:0045652]; regulation of protein ADP-ribosylation [GO:0010835]; rhythmic process [GO:0048511]; transcription initiation from RNA polymerase II promoter [GO:0006367]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:29174768}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:29174768}. Note=Mainly localizes to the nucleus. Also localizes to centrosomes in late G1 and around the G1/S transition, coinciding with the onset of centriole formation. {ECO:0000269|PubMed:29174768}.


uniprotID: Q6YP21
geneSymbol: KYAT3
reactome: R-HSA-71240;
length: 454
go: ENSG00000137944;
drug: DB00142;DB00114;
snps: rs1059370
name:
Kynurenine--oxoglutarate transaminase 3 (EC 2.6.1.7) (Cysteine-S-conjugate beta-lyase 2) (EC 4.4.1.13) (Kynurenine aminotransferase 3) (Kynurenine aminotransferase III) (KATIII) (Kynurenine--glyoxylate transaminase) (EC 2.6.1.63) (Kynurenine--oxoglutarate transaminase III)

sequence:

opentargets:
cysteine-S-conjugate beta-lyase activity [GO:0047804]; kynurenine-glyoxylate transaminase activity [GO:0047315]; kynurenine-oxoglutarate transaminase activity [GO:0016212]; protein homodimerization activity [GO:0042803]; pyridoxal phosphate binding [GO:0030170]; RNA binding [GO:0003723]; 2-oxoglutarate metabolic process [GO:0006103]; biosynthetic process [GO:0009058]; cellular amino acid metabolic process [GO:0006520]; kynurenine metabolic process [GO:0070189]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6YP21-1; Sequence=Displayed; Name=2; IsoId=Q6YP21-2; Sequence=VSP_025603, VSP_025604; Note=No experimental confirmation available.; Name=3; IsoId=Q6YP21-3; Sequence=VSP_042841; 


uniprotID: Q92993
geneSymbol: KAT5
pdb: 2EKO;2OU2;4QQG;
length: 513
go: ENSG00000172977;
drug: DB01992;DB02039;
snps: rs11541271
reactome:
R-HSA-201722;R-HSA-2559586;R-HSA-3214847;R-HSA-5685938;R-HSA-5685942;R-HSA-5693548;R-HSA-5693554;R-HSA-5693565;R-HSA-5693568;R-HSA-5693571;R-HSA-5693579;R-HSA-5693607;R-HSA-5693616;R-HSA-6804756;R-HSA-69473;R-HSA-9018519;

name:
Histone acetyltransferase KAT5 (EC 2.3.1.48) (60 kDa Tat-interactive protein) (Tip60) (Histone acetyltransferase HTATIP) (HIV-1 Tat interactive protein) (Lysine acetyltransferase 5) (cPLA(2)-interacting protein)

sequence:

opentargets:
histone acetyltransferase complex [GO:0000123]; NuA4 histone acetyltransferase complex [GO:0035267]; nuclear chromatin [GO:0000790]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; Piccolo NuA4 histone acetyltransferase complex [GO:0032777]; Swr1 complex [GO:0000812]; transcription factor complex [GO:0005667]; acetyltransferase activity [GO:0016407]; androgen receptor binding [GO:0050681]; H4 histone acetyltransferase activity [GO:0010485]; histone acetyltransferase activity [GO:0004402]; histone binding [GO:0042393]; metal ion binding [GO:0046872]; repressing transcription factor binding [GO:0070491]; transcription coactivator activity [GO:0003713]; androgen receptor signaling pathway [GO:0030521]; beta-catenin-TCF complex assembly [GO:1904837]; cellular response to estradiol stimulus [GO:0071392]; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator [GO:0006978]; DNA double-strand break processing [GO:0000729]; DNA replication [GO:0006260]; double-strand break repair [GO:0006302]; double-strand break repair via nonhomologous end joining [GO:0006303]; histone acetylation [GO:0016573]; negative regulation of interleukin-2 production [GO:0032703]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of protein acetylation [GO:1901985]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; regulation of growth [GO:0040008]; response to ionizing radiation [GO:0010212]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=2; IsoId=Q92993-1; Sequence=Displayed; Name=1; Synonyms=PLIP; IsoId=Q92993-2; Sequence=VSP_007438; Name=3; IsoId=Q92993-3; Sequence=VSP_009104; Name=4; IsoId=Q92993-4; Sequence=VSP_009104, VSP_007438; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17360565}. Nucleus, nucleolus. Cytoplasm, perinuclear region. Note=Upon stimulation with EDN1, it is exported from the nucleus to the perinuclear region and UV irradiation induces translocation into punctuate subnuclear structures named nuclear bodies.


uniprotID: Q92794
geneSymbol: KAT6A
reactome: R-HSA-3214847;R-HSA-6804758;
pdb: 1M36;2LN0;2OZU;2RC4;3V43;4LJN;4LK9;4LKA;4LLB;5B75;5B76;5B77;5B78;
length: 2004
go: ENSG00000083168;
snps: rs3824276
name:
Histone acetyltransferase KAT6A (EC 2.3.1.48) (MOZ, YBF2/SAS3, SAS2 and TIP60 protein 3) (MYST-3) (Monocytic leukemia zinc finger protein) (Runt-related transcription factor-binding protein 2) (Zinc finger protein 220)

sequence:

opentargets:
cytosol [GO:0005829]; histone acetyltransferase complex [GO:0000123]; MOZ/MORF histone acetyltransferase complex [GO:0070776]; nuclear chromatin [GO:0000790]; nuclear speck [GO:0016607]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleosome [GO:0000786]; nucleus [GO:0005634]; PML body [GO:0016605]; acetyltransferase activity [GO:0016407]; DNA binding [GO:0003677]; H4 histone acetyltransferase activity [GO:0010485]; histone acetyltransferase activity [GO:0004402]; histone binding [GO:0042393]; transcription coactivator activity [GO:0003713]; transcription factor binding [GO:0008134]; zinc ion binding [GO:0008270]; cellular senescence [GO:0090398]; DNA packaging [GO:0006323]; histone acetylation [GO:0016573]; histone H3 acetylation [GO:0043966]; myeloid cell differentiation [GO:0030099]; negative regulation of transcription, DNA-templated [GO:0045892]; nucleosome assembly [GO:0006334]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; protein acetylation [GO:0006473]; regulation of signal transduction by p53 class mediator [GO:1901796]

location:
SUBCELLULAR LOCATION: Nucleus. Nucleus, nucleolus. Nucleus, nucleoplasm. Nucleus, PML body. Note=Recruited into PML body after DNA damage.


uniprotID: Q8WYB5
geneSymbol: KAT6B
reactome: R-HSA-3214847;
pdb: 5U2J;
length: 2073
go: ENSG00000156650;
snps: rs57372986 rs3740321
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Histone acetyltransferase KAT6B (EC 2.3.1.48) (Histone acetyltransferase MOZ2) (MOZ, YBF2/SAS3, SAS2 and TIP60 protein 4) (MYST-4) (Monocytic leukemia zinc finger protein-related factor)

sequence:

opentargets:
histone acetyltransferase complex [GO:0000123]; MOZ/MORF histone acetyltransferase complex [GO:0070776]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleosome [GO:0000786]; nucleus [GO:0005634]; acetyltransferase activity [GO:0016407]; DNA binding [GO:0003677]; H4 histone acetyltransferase activity [GO:0010485]; histone acetyltransferase activity [GO:0004402]; histone binding [GO:0042393]; metal ion binding [GO:0046872]; transcription factor binding [GO:0008134]; cellular response to leukemia inhibitory factor [GO:1990830]; histone acetylation [GO:0016573]; histone H3 acetylation [GO:0043966]; negative regulation of transcription, DNA-templated [GO:0045892]; nucleosome assembly [GO:0006334]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Beta; IsoId=Q8WYB5-1; Sequence=Displayed; Name=2; Synonyms=Alpha; IsoId=Q8WYB5-2; Sequence=VSP_014587; Name=3; IsoId=Q8WYB5-3; Sequence=VSP_014586; 


uniprotID: O95251
geneSymbol: KAT7
reactome: R-HSA-3214847;
pdb: 5GK9;
length: 611
go: ENSG00000136504;
name:
Histone acetyltransferase KAT7 (EC 2.3.1.48) (Histone acetyltransferase binding to ORC1) (Lysine acetyltransferase 7) (MOZ, YBF2/SAS3, SAS2 and TIP60 protein 2) (MYST-2)

sequence:

opentargets:
cytosol [GO:0005829]; histone acetyltransferase complex [GO:0000123]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA replication origin binding [GO:0003688]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; H4 histone acetyltransferase activity [GO:0010485]; histone acetyltransferase activity [GO:0004402]; histone binding [GO:0042393]; transcription regulatory region DNA binding [GO:0044212]; zinc ion binding [GO:0008270]; DNA replication [GO:0006260]; histone H3 acetylation [GO:0043966]; histone H4-K12 acetylation [GO:0043983]; histone H4-K5 acetylation [GO:0043981]; histone H4-K8 acetylation [GO:0043982]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of histone H4 acetylation [GO:0090240]; positive regulation of protein localization to nucleus [GO:1900182]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription, DNA-templated [GO:0006355]; response to actinomycin D [GO:0072716]; response to anisomycin [GO:0072739]; response to dithiothreitol [GO:0072720]; response to hydroxyurea [GO:0072710]; response to sorbitol [GO:0072708]; stress-activated protein kinase signaling cascade [GO:0031098]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=O95251-1; Sequence=Displayed; Name=2; IsoId=O95251-2; Sequence=VSP_042553, VSP_042554; Note=No experimental confirmation available.; Name=3; IsoId=O95251-3; Sequence=VSP_042552, VSP_042553, VSP_042554; Note=No experimental confirmation available.; Name=4; IsoId=O95251-4; Sequence=VSP_042554; Note=No experimental confirmation available.; Name=5; IsoId=O95251-5; Sequence=VSP_042552, VSP_042553; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:10930412, ECO:0000269|PubMed:11278932, ECO:0000269|PubMed:16387653}. Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q5SVQ0}. Nucleus {ECO:0000250|UniProtKB:Q5SVQ0}. Note=Associates with replication origins specifically during the G1 phase of the cell cycle (PubMed:18832067). {ECO:0000269|PubMed:18832067}.


uniprotID: Q9H7Z6
geneSymbol: KAT8
reactome: R-HSA-3214847;
pdb: 2GIV;2PQ8;2Y0M;3QAH;3TOA;3TOB;4DNC;5H43;5J8C;5J8F;5WCI;6BA2;6BA4;6CT2;
length: 458
go: ENSG00000103510;
name:
Histone acetyltransferase KAT8 (EC 2.3.1.48) (Lysine acetyltransferase 8) (MOZ, YBF2/SAS3, SAS2 and TIP60 protein 1) (MYST-1) (hMOF)

sequence:

opentargets:
histone acetyltransferase complex [GO:0000123]; kinetochore [GO:0000776]; MLL1 complex [GO:0071339]; MSL complex [GO:0072487]; nuclear chromatin [GO:0000790]; nuclear matrix [GO:0016363]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; acetyltransferase activity [GO:0016407]; enzyme binding [GO:0019899]; histone acetyltransferase activity [GO:0004402]; histone acetyltransferase activity (H4-K16 specific) [GO:0046972]; histone binding [GO:0042393]; metal ion binding [GO:0046872]; methylated histone binding [GO:0035064]; transcription factor binding [GO:0008134]; histone acetylation [GO:0016573]; histone H4-K16 acetylation [GO:0043984]; histone H4-K5 acetylation [GO:0043981]; histone H4-K8 acetylation [GO:0043982]; myeloid cell differentiation [GO:0030099]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of autophagy [GO:0010506]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H7Z6-1; Sequence=Displayed; Name=2; IsoId=Q9H7Z6-2; Sequence=VSP_014579; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10786633, ECO:0000269|PubMed:20018852}. Chromosome {ECO:0000250}.


uniprotID: Q9BW62
geneSymbol: KATNAL1
pdb: 6B5C;
length: 490
go: ENSG00000102781;
name:
Katanin p60 ATPase-containing subunit A-like 1 (Katanin p60 subunit A-like 1) (EC 5.6.1.1) (p60 katanin-like 1)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; microtubule [GO:0005874]; spindle [GO:0005819]; spindle pole [GO:0000922]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; identical protein binding [GO:0042802]; microtubule binding [GO:0008017]; microtubule-severing ATPase activity [GO:0008568]; cytoplasmic microtubule organization [GO:0031122]; microtubule severing [GO:0051013]; spermatogenesis [GO:0007283]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000255|HAMAP-Rule:MF_03024, ECO:0000269|PubMed:22654668}. Cytoplasm {ECO:0000269|PubMed:26929214}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:26929214}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:26929214}. Note=Colocalizes with microtubules throughout the basal and adluminal compartments of Sertoli cells (By similarity). Localizes within the cytoplasm, partially overlapping with microtubules, in interphase and to the mitotic spindle and spindle poles during mitosis (PubMed:26929214). {ECO:0000250|UniProtKB:Q8K0T4, ECO:0000269|PubMed:26929214}.


uniprotID: Q8IYT4
geneSymbol: KATNAL2
length: 538
go: ENSG00000167216;
snps: rs7233515
name:
Katanin p60 ATPase-containing subunit A-like 2 (Katanin p60 subunit A-like 2) (EC 5.6.1.1) (p60 katanin-like 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; microtubule [GO:0005874]; spindle [GO:0005819]; spindle pole [GO:0000922]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; microtubule binding [GO:0008017]; microtubule-severing ATPase activity [GO:0008568]; cytoplasmic microtubule organization [GO:0031122]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IYT4-1; Sequence=Displayed; Name=2; IsoId=Q8IYT4-2; Sequence=VSP_033523; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000255|HAMAP-Rule:MF_03025}. Cytoplasm {ECO:0000269|PubMed:26929214}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:26929214}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:26929214}. Note=Localizes within the cytoplasm, partially overlapping with microtubules in interphase and to the mitotic spindle and spindle poles during mitosis. {ECO:0000269|PubMed:26929214}.


uniprotID: Q9P2W1
geneSymbol: PSMC3IP
reactome: R-HSA-912446;
length: 217
go: ENSG00000131470;
snps: rs2292754
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11739747}.
name:
Homologous-pairing protein 2 homolog (Nuclear receptor coactivator GT198) (PSMC3-interacting protein) (Proteasome 26S ATPase subunit 3-interacting protein) (Tat-binding protein 1-interacting protein) (TBP-1-interacting protein)

sequence:

opentargets:
nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; nuclear receptor transcription coactivator activity [GO:0030374]; reciprocal meiotic recombination [GO:0007131]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9P2W1-1; Sequence=Displayed; Name=2; IsoId=Q9P2W1-2; Sequence=VSP_030213; Name=3; IsoId=Q9P2W1-3; Sequence=VSP_047716; 


uniprotID: O75600
geneSymbol: GCAT
reactome: R-HSA-8849175;
length: 419
go: ENSG00000100116;
drug: DB00145;DB00114;
snps: rs710187 rs34468367
name:
2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial (AKB ligase) (EC 2.3.1.29) (Aminoacetone synthase) (Glycine acetyltransferase)

sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; glycine C-acetyltransferase activity [GO:0008890]; pyridoxal phosphate binding [GO:0030170]; biosynthetic process [GO:0009058]; cellular amino acid metabolic process [GO:0006520]; L-threonine catabolic process to glycine [GO:0019518]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75600-1; Sequence=Displayed; Name=2; IsoId=O75600-2; Sequence=VSP_044607; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250}. Nucleus {ECO:0000269|PubMed:17688197}. Note=Translocates to the nucleus upon cold and osmotic stress.


uniprotID: Q96EK5
geneSymbol: KIF1BP
name: KIF1-binding protein
length: 621
go: ENSG00000198954;
snps: rs2255607
sequence:

opentargets:
cytoskeleton [GO:0005856]; mitochondrion [GO:0005739]; kinesin binding [GO:0019894]; cell differentiation [GO:0030154]; mitochondrial transport [GO:0006839]; nervous system development [GO:0007399]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:16225668, ECO:0000269|PubMed:20621975, ECO:0000269|PubMed:23427148}.


uniprotID: Q9NYS0
geneSymbol: NKIRAS1
reactome: R-HSA-1810476;R-HSA-445989;R-HSA-933542;
length: 192
go: ENSG00000197885;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15024091}.
name:
NF-kappa-B inhibitor-interacting Ras-like protein 1 (I-kappa-B-interacting Ras-like protein 1) (Kappa B-Ras protein 1) (KappaB-Ras1)

sequence:
MGKGCKVVVCGLLSVGKTAILEQLLYGNHTIGMEDCETMEDVYMASVETDRGVKEQLHLYDTRGLQEGVELPKHYFSFADGFVLVYSVNNLESFQRVELLKKEIDKFKDKKEVAIVVLGNKIDLSEQRQVDAEVAQQWAKSEKVRLWEVTVTDRKTLIEPFTLLASKLSQPQSKSSFPLPGRKNKGNSNSEN

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]


uniprotID: Q9NYR9
geneSymbol: NKIRAS2
reactome: R-HSA-1810476;R-HSA-445989;R-HSA-933542;
length: 191
go: ENSG00000168256;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
NF-kappa-B inhibitor-interacting Ras-like protein 2 (I-kappa-B-interacting Ras-like protein 2) (Kappa B-Ras protein 2) (KappaB-Ras2)

sequence:
MGKSCKVVVCGQASVGKTSILEQLLYGNHVVGSEMIETQEDIYVGSIETDRGVREQVRFYDTRGLRDGAELPRHCFSCTDGYVLVYSTDSRESFQRVELLKKEIDKSKDKKEVTIVVLGNKCDLQEQRRVDPDVAQHWAKSEKVKLWEVSVADRRSLLEPFVYLASKMTQPQSKSAFPLSRKNKGSGSLDG

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9NYR9-1; Sequence=Displayed; Name=2; IsoId=Q9NYR9-2; Sequence=VSP_017412; Note=No experimental confirmation available.; Name=3; IsoId=Q9NYR9-3; Sequence=VSP_043151; Note=No experimental confirmation available.; Name=4; IsoId=Q9NYR9-4; Sequence=VSP_044873, VSP_044874; Note=No experimental confirmation available.; 


uniprotID: Q8IY47
geneSymbol: KBTBD2
name: Kelch repeat and BTB domain-containing protein 2 (BTB and kelch domain-containing protein 1)
length: 623
go: ENSG00000170852;
snps: rs17853781 rs17854425 rs35477666 rs17857323 rs17857324 rs17854424 rs17853783
sequence:


uniprotID: Q8NAB2
geneSymbol: KBTBD3
name: Kelch repeat and BTB domain-containing protein 3 (BTB and kelch domain-containing protein 3)
length: 608
snps: rs35762821
sequence:


uniprotID: Q9NVX7
geneSymbol: KBTBD4
pdb: 2EQX;
name: Kelch repeat and BTB domain-containing protein 4 (BTB and kelch domain-containing protein 4)
length: 518
go: ENSG00000123444;
snps: rs11039302
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NVX7-1; Sequence=Displayed; Name=2; IsoId=Q9NVX7-2; Sequence=VSP_042068; 


uniprotID: Q86V97
geneSymbol: KBTBD6
reactome: R-HSA-8951664;R-HSA-983168;
pdb: 4XC2;
name: Kelch repeat and BTB domain-containing protein 6
length: 674
go: ENSG00000165572;
opentargets: cytosol [GO:0005829]; post-translational protein modification [GO:0043687]
sequence:


uniprotID: Q8WVZ9
geneSymbol: KBTBD7
reactome: R-HSA-5658442;R-HSA-8951664;R-HSA-983168;
name: Kelch repeat and BTB domain-containing protein 7
length: 684
go: ENSG00000120696;
sequence:

opentargets:
cytosol [GO:0005829]; MAPK cascade [GO:0000165]; post-translational protein modification [GO:0043687]


uniprotID: Q8NFY9
geneSymbol: KBTBD8
reactome: R-HSA-8951664;R-HSA-983168;
name: Kelch repeat and BTB domain-containing protein 8 (T-cell activation kelch repeat protein) (TA-KRP)
length: 601
go: ENSG00000163376;
snps: rs13096789
sequence:

opentargets:
Cul3-RING ubiquitin ligase complex [GO:0031463]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; spindle [GO:0005819]; neural crest cell development [GO:0014032]; neural crest formation [GO:0014029]; post-translational protein modification [GO:0043687]; protein monoubiquitination [GO:0006513]; regulation of translation [GO:0006417]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NFY9-1; Sequence=Displayed; Name=2; IsoId=Q8NFY9-2; Sequence=VSP_056107; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:23578279}. Golgi apparatus {ECO:0000269|PubMed:23578279}. Note=Translocates to the spindle apparatus during mitosis. {ECO:0000269|PubMed:23578279}.


uniprotID: O94819
geneSymbol: KBTBD11
length: 623
go: ENSG00000176595;
name:
Kelch repeat and BTB domain-containing protein 11 (Chronic myelogenous leukemia-associated protein) (Kelch domain-containing protein 7B)

sequence:


uniprotID: Q3ZCT8
geneSymbol: KBTBD12
name: Kelch repeat and BTB domain-containing protein 12 (Kelch domain-containing protein 6)
length: 623
go: ENSG00000187715;
snps: rs4141499
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q3ZCT8-1; Sequence=Displayed; Name=2; IsoId=Q3ZCT8-2; Sequence=VSP_032354, VSP_032355; Note=No experimental confirmation available.; 


uniprotID: C9JR72
geneSymbol: KBTBD13
reactome: R-HSA-8951664;R-HSA-983168;
name: Kelch repeat and BTB domain-containing protein 13
length: 458
go: ENSG00000234438;
snps: rs200549195 rs387907090
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21109227, ECO:0000269|PubMed:22542517}.
sequence:

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


uniprotID: Q8N752
geneSymbol: CSNK1A1L
name: Casein kinase I isoform alpha-like (CKI-alpha-like) (EC 2.7.11.1) (CK1)
length: 337
go: ENSG00000180138;
snps: rs56224973 rs373362769 rs56158728 rs9576175 rs17773251 rs17054882 rs56252856 rs56252523 rs55895045
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytosol [GO:0005829]; ATP binding [GO:0005524]; protein serine/threonine kinase activity [GO:0004674]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; Wnt signaling pathway [GO:0016055]


uniprotID: P48729
geneSymbol: CSNK1A1
pdb: 5FQD;6GZD;
name: Casein kinase I isoform alpha (CKI-alpha) (EC 2.7.11.1) (CK1)
length: 337
go: ENSG00000113712;
reactome:
R-HSA-195253;R-HSA-196299;R-HSA-4641262;R-HSA-5339716;R-HSA-5358747;R-HSA-5358749;R-HSA-5358751;R-HSA-5358752;R-HSA-5467337;R-HSA-5467340;R-HSA-5467348;R-HSA-5610783;R-HSA-5610785;R-HSA-5635838;

sequence:

opentargets:
beta-catenin destruction complex [GO:0030877]; centrosome [GO:0005813]; ciliary basal body [GO:0036064]; cilium [GO:0005929]; condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; membrane [GO:0016020]; nuclear speck [GO:0016607]; ribonucleoprotein complex [GO:1990904]; ATP binding [GO:0005524]; kinase activity [GO:0016301]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; beta-catenin destruction complex assembly [GO:1904885]; beta-catenin destruction complex disassembly [GO:1904886]; cell cycle [GO:0007049]; cell division [GO:0051301]; cell morphogenesis [GO:0000902]; cell surface receptor signaling pathway [GO:0007166]; Golgi organization [GO:0007030]; intermediate filament cytoskeleton organization [GO:0045104]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; protein phosphorylation [GO:0006468]; regulation of GTP binding [GO:1904424]; signal transduction [GO:0007165]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P48729-1; Sequence=Displayed; Name=2; IsoId=P48729-2; Sequence=VSP_035455; Name=3; IsoId=P48729-3; Sequence=VSP_055131; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:1409656}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:1409656}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:1409656}. Nucleus speckle {ECO:0000303|PubMed:18305108}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q8BK63}. Note=Localizes to the centrosome in interphase cells, and to kinetochore fibers during mitosis. Also recruited to the keratin cytoskeleton (PubMed:23902688). {ECO:0000269|PubMed:1409656, ECO:0000269|PubMed:23902688}.


uniprotID: P48730
geneSymbol: CSNK1D
pdb: 3UYS;3UYT;3UZP;4HGT;4HNF;4KB8;4KBA;4KBC;4KBK;4TN6;4TW9;4TWC;5IH4;5IH5;5IH6;5MQV;5OKT;5W4W;6GZM;
length: 415
go: ENSG00000141551;
snps: rs104894561 rs397514693 rs56124628
reactome:
R-HSA-204005;R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-400253;R-HSA-5620912;R-HSA-6791226;R-HSA-8854518;

name:
Casein kinase I isoform delta (CKI-delta) (CKId) (EC 2.7.11.1) (Tau-protein kinase CSNK1D) (EC 2.7.11.26)

sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; neuron projection [GO:0043005]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; spindle [GO:0005819]; spindle microtubule [GO:0005876]; ATP binding [GO:0005524]; cadherin binding [GO:0045296]; peptide binding [GO:0042277]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; tau-protein kinase activity [GO:0050321]; cellular response to nerve growth factor stimulus [GO:1990090]; ciliary basal body-plasma membrane docking [GO:0097711]; circadian regulation of gene expression [GO:0032922]; COPII vesicle coating [GO:0048208]; G2/M transition of mitotic cell cycle [GO:0000086]; Golgi organization [GO:0007030]; microtubule nucleation [GO:0007020]; non-motile cilium assembly [GO:1905515]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of non-canonical Wnt signaling pathway [GO:2000052]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of Wnt-mediated midbrain dopaminergic neuron differentiation [GO:1905426]; protein localization to centrosome [GO:0071539]; protein localization to cilium [GO:0061512]; protein localization to Golgi apparatus [GO:0034067]; protein phosphorylation [GO:0006468]; regulation of circadian rhythm [GO:0042752]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; spindle assembly [GO:0051225]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P48730-1; Sequence=Displayed; Name=2; IsoId=P48730-2; Sequence=VSP_010253; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843}. Cytoplasm, perinuclear region. Cell membrane. Cytoplasm, cytoskeleton, spindle. Golgi apparatus. Note=Localized at mitotic spindle microtubules, and at the centrosomes and interphase in interphase cells. Recruited to the spindle apparatus and the centrosomes in response to DNA-damage. Correct subcellular localization requires kinase activity.


uniprotID: P49674
geneSymbol: CSNK1E
pdb: 4HNI;4HOK;
name: Casein kinase I isoform epsilon (CKI-epsilon) (CKIe) (EC 2.7.11.1)
length: 416
go: ENSG00000213923;
snps: rs35665927
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.
reactome:
R-HSA-201688;R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-400253;R-HSA-5620912;R-HSA-6791226;R-HSA-8854518;

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; RNA binding [GO:0003723]; canonical Wnt signaling pathway [GO:0060070]; ciliary basal body-plasma membrane docking [GO:0097711]; circadian regulation of gene expression [GO:0032922]; DNA repair [GO:0006281]; endocytosis [GO:0006897]; G2/M transition of mitotic cell cycle [GO:0000086]; negative regulation of protein binding [GO:0032091]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of non-canonical Wnt signaling pathway [GO:2000052]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; positive regulation of Wnt-mediated midbrain dopaminergic neuron differentiation [GO:1905426]; protein phosphorylation [GO:0006468]; regulation of cellular protein localization [GO:1903827]; regulation of circadian rhythm [GO:0042752]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; signal transduction [GO:0007165]


uniprotID: Q9HCP0
geneSymbol: CSNK1G1
pdb: 2CMW;
name: Casein kinase I isoform gamma-1 (CKI-gamma 1) (EC 2.7.11.1)
length: 422
go: ENSG00000169118;
drug: DB08325;
snps: rs55799101 rs587777544 rs55699712
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytosol [GO:0005829]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; protein serine/threonine kinase activity [GO:0004674]; endocytosis [GO:0006897]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1L; IsoId=Q9HCP0-1; Sequence=Displayed; Name=1S; IsoId=Q9HCP0-2; Sequence=VSP_004748; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: P78368
geneSymbol: CSNK1G2
reactome: R-HSA-1660661;R-HSA-4641262;
pdb: 2C47;
name: Casein kinase I isoform gamma-2 (CKI-gamma 2) (EC 2.7.11.1)
length: 415
go: ENSG00000133275;
drug: DB04604;DB03083;DB03693;
snps: rs55702630 rs55780547 rs55923222 rs56264133 rs56108438 rs56340103 rs55818316 rs55754218 rs56038081
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15077195}.
sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; peptide binding [GO:0042277]; phosphoprotein binding [GO:0051219]; protein serine/threonine kinase activity [GO:0004674]; endocytosis [GO:0006897]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; signal transduction [GO:0007165]; sphingolipid biosynthetic process [GO:0030148]; Wnt signaling pathway [GO:0016055]


uniprotID: Q9Y6M4
geneSymbol: CSNK1G3
pdb: 2CHL;2IZR;2IZS;2IZT;2IZU;4G16;4G17;4HGL;4HGS;6GRO;
name: Casein kinase I isoform gamma-3 (CKI-gamma 3) (EC 2.7.11.1)
length: 447
go: ENSG00000151292;
drug: DB04751;
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytoplasm [GO:0005737]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; cellular protein modification process [GO:0006464]; endocytosis [GO:0006897]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; signal transduction [GO:0007165]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=3; IsoId=Q9Y6M4-1; Sequence=Displayed; Name=2; Synonyms=3L, CSNK1G3L; IsoId=Q9Y6M4-2; Sequence=VSP_004749; Name=3; IsoId=Q9Y6M4-3; Sequence=VSP_010256, VSP_004749; Name=4; IsoId=Q9Y6M4-4; Sequence=VSP_047055, VSP_010256, VSP_004749; Name=5; IsoId=Q9Y6M4-5; Sequence=VSP_047054, VSP_010256, VSP_004749; Name=6; IsoId=Q9Y6M4-6; Sequence=VSP_047053, VSP_047055, VSP_010256, VSP_004749; 


uniprotID: Q13555
geneSymbol: CAMK2G
pdb: 2UX0;2V7O;
length: 558
go: ENSG00000148660;
drug: DB06616;
snps: rs17853266 rs397514627
reactome:
R-HSA-3371571;R-HSA-399719;R-HSA-438066;R-HSA-442729;R-HSA-442742;R-HSA-442982;R-HSA-5576892;R-HSA-5578775;R-HSA-5673001;R-HSA-877300;R-HSA-936837;

name:
Calcium/calmodulin-dependent protein kinase type II subunit gamma (CaM kinase II subunit gamma) (CaMK-II subunit gamma) (EC 2.7.11.17)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endocytic vesicle membrane [GO:0030666]; membrane [GO:0016020]; neuron projection [GO:0043005]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; sarcoplasmic reticulum membrane [GO:0033017]; ATP binding [GO:0005524]; calcium-dependent protein serine/threonine phosphatase activity [GO:0004723]; calmodulin binding [GO:0005516]; calmodulin-dependent protein kinase activity [GO:0004683]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; protein serine/threonine kinase activity [GO:0004674]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; cell differentiation [GO:0030154]; insulin secretion [GO:0030073]; interferon-gamma-mediated signaling pathway [GO:0060333]; MAPK cascade [GO:0000165]; nervous system development [GO:0007399]; protein complex oligomerization [GO:0051259]; regulation of calcium ion transport [GO:0051924]; regulation of skeletal muscle adaptation [GO:0014733]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=11;  Name=1; IsoId=Q13555-1; Sequence=Displayed; Name=2; IsoId=Q13555-2; Sequence=VSP_013349; Name=3; IsoId=Q13555-3; Sequence=VSP_013350; Name=4; IsoId=Q13555-4; Sequence=VSP_004778; Name=5; IsoId=Q13555-5; Sequence=VSP_032699, VSP_032700, VSP_004778; Name=6; IsoId=Q13555-6; Sequence=VSP_032699, VSP_035456; Name=7; Synonyms=gamma F; IsoId=Q13555-7; Sequence=VSP_013350, VSP_035456; Name=8; Synonyms=gamma E; IsoId=Q13555-8; Sequence=VSP_013349, VSP_035456; Name=9; Synonyms=gamma D; IsoId=Q13555-9; Sequence=VSP_013349, VSP_036027, VSP_035456; Name=10; IsoId=Q13555-10; Sequence=VSP_013350, VSP_004778; Name=11; IsoId=Q13555-11; Sequence=VSP_059393, VSP_013349, VSP_059394; 

location:
SUBCELLULAR LOCATION: Sarcoplasmic reticulum membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}.


uniprotID: Q16566
geneSymbol: CAMK4
reactome: R-HSA-111932;R-HSA-2151201;R-HSA-442717;R-HSA-442745;
pdb: 2W4O;
name: Calcium/calmodulin-dependent protein kinase type IV (CaMK IV) (EC 2.7.11.17) (CaM kinase-GR)
length: 473
go: ENSG00000152495;
snps: rs35548075 rs56360861
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; fibrillar center [GO:0001650]; glutamatergic synapse [GO:0098978]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; postsynapse [GO:0098794]; ATP binding [GO:0005524]; calcium-dependent protein serine/threonine kinase activity [GO:0009931]; calmodulin binding [GO:0005516]; calmodulin-dependent protein kinase activity [GO:0004683]; adaptive immune response [GO:0002250]; inflammatory response [GO:0006954]; intracellular signal transduction [GO:0035556]; long-term memory [GO:0007616]; myeloid dendritic cell differentiation [GO:0043011]; peptidyl-serine phosphorylation [GO:0018105]; positive regulation of transcription, DNA-templated [GO:0045893]; protein phosphorylation [GO:0006468]; regulation of osteoclast differentiation [GO:0045670]; regulation of T cell differentiation in thymus [GO:0033081]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Localized in hippocampal neuron nuclei. In spermatids, associated with chromatin and nuclear matrix (By similarity). {ECO:0000250}.


uniprotID: Q693B1
geneSymbol: KCTD11
length: 232
go: ENSG00000213859;
snps: rs8080182
name:
BTB/POZ domain-containing protein KCTD11 (KCASH1 protein) (Potassium channel tetramerization domain-containing protein 11) (RING-type E3 ubiquitin transferase subunit KCTD11)

sequence:

opentargets:
cytoplasm [GO:0005737]; identical protein binding [GO:0042802]; transferase activity [GO:0016740]; cell cycle [GO:0007049]; negative regulation of neuroblast proliferation [GO:0007406]; negative regulation of smoothened signaling pathway [GO:0045879]; positive regulation of neuron differentiation [GO:0045666]; protein homooligomerization [GO:0051260]; protein ubiquitination [GO:0016567]; regulation of growth [GO:0040008]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=2;  Name=1; Synonyms=sKCTD11; IsoId=Q693B1-1; Sequence=Displayed; Name=2; Synonyms=lKCTD11; IsoId=Q693B1-2; Sequence=VSP_044086; Note=Non-AUG start codon.; 


uniprotID: Q96CX2
geneSymbol: KCTD12
name: BTB/POZ domain-containing protein KCTD12 (Pfetin) (Predominantly fetal expressed T1 domain)
length: 325
go: ENSG00000178695;
sequence:

opentargets:
cell junction [GO:0030054]; postsynaptic membrane [GO:0045211]; presynaptic membrane [GO:0042734]; identical protein binding [GO:0042802]; RNA binding [GO:0003723]; protein homooligomerization [GO:0051260]

location:
SUBCELLULAR LOCATION: Cell junction, synapse, presynaptic cell membrane. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}.


uniprotID: Q9BQ13
geneSymbol: KCTD14
name: BTB/POZ domain-containing protein KCTD14
length: 255
go: ENSG00000151364;
opentargets: protein homooligomerization [GO:0051260]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BQ13-1; Sequence=Displayed; Name=3b; IsoId=Q9BQ13-2; Sequence=VSP_054562; Note=No experimental confirmation available.; Name=2; Synonyms=NDUFC2-KCTD14; IsoId=E9PQ53-1; Sequence=External; Note=Based on a readthrough transcript which may produce a NDUFC2-KCTD14 fusion protein. No experimental confirmation available.; 


uniprotID: Q96SI1
geneSymbol: KCTD15
reactome: R-HSA-8866904;
length: 283
go: ENSG00000153885;
snps: rs17849437
name:
BTB/POZ domain-containing protein KCTD15 (Potassium channel tetramerization domain-containing protein 15)

sequence:

opentargets:
identical protein binding [GO:0042802]; multicellular organism development [GO:0007275]; protein homooligomerization [GO:0051260]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96SI1-1; Sequence=Displayed; Name=2; IsoId=Q96SI1-2; Sequence=VSP_019958, VSP_019959; Note=No experimental confirmation available.; 


uniprotID: Q68DU8
geneSymbol: KCTD16
pdb: 5A15;
length: 428
go: ENSG00000183775;
name:
BTB/POZ domain-containing protein KCTD16 (Potassium channel tetramerization domain-containing protein 16)

sequence:

opentargets:
cell junction [GO:0030054]; postsynaptic membrane [GO:0045211]; presynaptic membrane [GO:0042734]; receptor complex [GO:0043235]; protein homooligomerization [GO:0051260]; regulation of G protein-coupled receptor signaling pathway [GO:0008277]

location:
SUBCELLULAR LOCATION: Cell junction, synapse, presynaptic cell membrane. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250|UniProtKB:Q5DTY9}.


uniprotID: Q8N5Z5
geneSymbol: KCTD17
pdb: 5A6R;
name: BTB/POZ domain-containing protein KCTD17
length: 321
go: ENSG00000100379;
snps: rs17852877 rs786205860
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:25983243}.
sequence:

opentargets:
Cul3-RING ubiquitin ligase complex [GO:0031463]; cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; cullin family protein binding [GO:0097602]; identical protein binding [GO:0042802]; cell projection organization [GO:0030030]; endoplasmic reticulum calcium ion homeostasis [GO:0032469]; positive regulation of cilium assembly [GO:0045724]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein homooligomerization [GO:0051260]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N5Z5-1; Sequence=Displayed; Name=2; IsoId=Q8N5Z5-2; Sequence=VSP_020072; Note=No experimental confirmation available.; 


uniprotID: Q6PI47
geneSymbol: KCTD18
name: BTB/POZ domain-containing protein KCTD18
length: 426
go: ENSG00000155729;
opentargets: protein homooligomerization [GO:0051260]
snps: rs13018579 rs10203154 rs3795969 rs10203042
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6PI47-1; Sequence=Displayed; Name=2; IsoId=Q6PI47-2; Sequence=VSP_020325, VSP_020326; Name=3; IsoId=Q6PI47-3; Sequence=VSP_020323, VSP_020324; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: Q17RG1
geneSymbol: KCTD19
name: BTB/POZ domain-containing protein KCTD19
length: 926
go: ENSG00000168676;
opentargets: protein homooligomerization [GO:0051260]
snps: rs16957289
sequence:


uniprotID: Q7Z5Y7
geneSymbol: KCTD20
name: BTB/POZ domain-containing protein KCTD20 (Potassium channel tetramerization domain containing 20)
length: 419
go: ENSG00000112078;
opentargets: cytoplasm [GO:0005737]; positive regulation of phosphorylation [GO:0042327]
snps: rs2239808
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q7Z5Y7-1; Sequence=Displayed; Name=2; IsoId=Q7Z5Y7-2; Sequence=VSP_021277, VSP_021278; Note=No experimental confirmation available.; Name=3; IsoId=Q7Z5Y7-3; Sequence=VSP_055669; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q8CDD8}. Note=Colocalizes with BTBD10 in filamentous structures. {ECO:0000250|UniProtKB:Q8CDD8}.


uniprotID: Q4G0X4
geneSymbol: KCTD21
length: 260
go: ENSG00000188997;
name:
BTB/POZ domain-containing protein KCTD21 (KCASH2 protein) (Potassium channel tetramerization domain-containing protein 21)

sequence:

opentargets:
cullin family protein binding [GO:0097602]; histone deacetylase binding [GO:0042826]; identical protein binding [GO:0042802]; negative regulation of smoothened signaling pathway [GO:0045879]; protein homooligomerization [GO:0051260]; protein ubiquitination [GO:0016567]; regulation of growth [GO:0040008]; ubiquitin-dependent protein catabolic process [GO:0006511]


uniprotID: A0A087WTH5
geneSymbol: KCNE1B
name: Potassium voltage-gated channel subfamily E member 1B
length: 132
go: ENSG00000276289;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass type I membrane protein {ECO:0000255}.
sequence:
MPRMILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSGDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNVYIESNAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP

opentargets:
integral component of membrane [GO:0016021]; ion channel binding [GO:0044325]; potassium channel regulator activity [GO:0015459]; voltage-gated potassium channel activity [GO:0005249]; membrane repolarization during action potential [GO:0086011]; membrane repolarization during ventricular cardiac muscle cell action potential [GO:0098915]; negative regulation of delayed rectifier potassium channel activity [GO:1902260]; potassium ion export [GO:0071435]; regulation of heart rate by cardiac conduction [GO:0086091]; regulation of ventricular cardiac muscle cell membrane repolarization [GO:0060307]; ventricular cardiac muscle cell action potential [GO:0086005]


uniprotID: Q9NZI2
geneSymbol: KCNIP1
reactome: R-HSA-5576894;
pdb: 1S1E;2I2R;2NZ0;
length: 227
go: ENSG00000182132;
name:
Kv channel-interacting protein 1 (KChIP1) (A-type potassium channel modulatory protein 1) (Potassium channel-interacting protein 1) (Vesicle APC-binding protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; dendrite [GO:0030425]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; calcium ion binding [GO:0005509]; potassium channel activity [GO:0005267]; potassium channel regulator activity [GO:0015459]; voltage-gated ion channel activity [GO:0005244]; regulation of potassium ion transmembrane transport [GO:1901379]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=KCHIP1b; IsoId=Q9NZI2-1; Sequence=Displayed; Name=2; Synonyms=KCHIP1a; IsoId=Q9NZI2-2; Sequence=VSP_015044, VSP_047686; Name=3; IsoId=Q9NZI2-3; Sequence=VSP_015043; Name=4; IsoId=Q9NZI2-4; Sequence=VSP_041511; Name=5; IsoId=Q9NZI2-5; Sequence=VSP_015044, VSP_047687; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10676964}; Peripheral membrane protein {ECO:0000305|PubMed:10676964}. Cytoplasm {ECO:0000269|PubMed:10676964}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q8R426}.


uniprotID: Q9NS61
geneSymbol: KCNIP2
reactome: R-HSA-5576894;
length: 270
go: ENSG00000120049;
name:
Kv channel-interacting protein 2 (KChIP2) (A-type potassium channel modulatory protein 2) (Cardiac voltage-gated potassium channel modulatory subunit) (Potassium channel-interacting protein 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; plasma membrane [GO:0005886]; potassium channel complex [GO:0034705]; voltage-gated potassium channel complex [GO:0008076]; A-type (transient outward) potassium channel activity [GO:0005250]; calcium ion binding [GO:0005509]; ER retention sequence binding [GO:0046923]; identical protein binding [GO:0042802]; ion channel binding [GO:0044325]; potassium channel regulator activity [GO:0015459]; protein N-terminus binding [GO:0047485]; chemical synaptic transmission [GO:0007268]; clustering of voltage-gated potassium channels [GO:0045163]; detection of calcium ion [GO:0005513]; membrane repolarization [GO:0086009]; membrane repolarization during cardiac muscle cell action potential [GO:0086013]; muscle contraction [GO:0006936]; potassium ion export [GO:0071435]; potassium ion export across plasma membrane [GO:0097623]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]; regulation of cation channel activity [GO:2001257]; regulation of heart contraction [GO:0008016]; regulation of potassium ion transmembrane transport [GO:1901379]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Name=1; Synonyms=KChIP2a, KChIP2b, KCHIP2.4, KCHIP2L; IsoId=Q9NS61-1; Sequence=Displayed; Name=2; Synonyms=3, KChIP2.1, KChIP2b; IsoId=Q9NS61-2; Sequence=VSP_015052; Name=3; Synonyms=2, KChIP2.2, KChIP2c, KCHIP2S; IsoId=Q9NS61-3; Sequence=VSP_015051; Name=4; IsoId=Q9NS61-4; Sequence=VSP_015050; Name=5; IsoId=Q9NS61-5; Sequence=VSP_015051, VSP_015056; Name=6; Synonyms=KCHIP4.2; IsoId=Q9NS61-6; Sequence=VSP_015053; Name=7; IsoId=Q9NS61-7; Sequence=VSP_015051, VSP_015055; Name=8; Synonyms=KCHIP2.6; IsoId=Q9NS61-8; Sequence=VSP_015049, VSP_015054; Name=9; Synonyms=KCHIP2.5; IsoId=Q9NS61-9; Sequence=VSP_015051, VSP_015057, VSP_015058; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000250|UniProtKB:Q9JM59}; Lipid-anchor {ECO:0000250|UniProtKB:Q9JM59}. Note=Detected on lipid rafts (By similarity). {ECO:0000250|UniProtKB:Q9JM59}.; SUBCELLULAR LOCATION: Isoform 2: Cell membrane {ECO:0000250|UniProtKB:Q9JM59}; Lipid-anchor {ECO:0000250|UniProtKB:Q9JM59}.; SUBCELLULAR LOCATION: Isoform 6: Cell membrane {ECO:0000250|UniProtKB:Q9JM59}; Lipid-anchor {ECO:0000250|UniProtKB:Q9JM59}.


uniprotID: Q6PIL6
geneSymbol: KCNIP4
reactome: R-HSA-5576894;
length: 250
go: ENSG00000185774;
name:
Kv channel-interacting protein 4 (KChIP4) (A-type potassium channel modulatory protein 4) (Calsenilin-like protein) (Potassium channel-interacting protein 4)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; calcium ion binding [GO:0005509]; potassium channel activity [GO:0005267]; potassium channel regulator activity [GO:0015459]; voltage-gated ion channel activity [GO:0005244]; protein localization to plasma membrane [GO:0072659]; regulation of potassium ion transmembrane transport [GO:1901379]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=KChIP4.1; IsoId=Q6PIL6-1; Sequence=Displayed; Name=2; Synonyms=KChIP4.2; IsoId=Q6PIL6-2; Sequence=VSP_015068; Name=3; Synonyms=KChIP4bs, KCHIP4.2; IsoId=Q6PIL6-3; Sequence=VSP_015066; Name=4; Synonyms=KChIP4a, KChIP4.4; IsoId=Q6PIL6-4; Sequence=VSP_015067; Name=5; IsoId=Q6PIL6-5; Sequence=VSP_043321; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11847232}; Peripheral membrane protein {ECO:0000305|PubMed:11847232}. Cytoplasm {ECO:0000269|PubMed:11847232, ECO:0000269|PubMed:23576435}.; SUBCELLULAR LOCATION: Isoform 4: Endoplasmic reticulum {ECO:0000269|PubMed:23576435}.


uniprotID: P78508
geneSymbol: KCNJ10
reactome: R-HSA-1296041;R-HSA-1296067;R-HSA-997272;
length: 379
go: ENSG00000177807;
drug: DB01392;
snps: rs137853066 rs137853072 rs137853068 rs137853069 rs137853070 rs1130183 rs3795339 rs137853071
name:
ATP-sensitive inward rectifier potassium channel 10 (ATP-dependent inwardly rectifying potassium channel Kir4.1) (Inward rectifier K(+) channel Kir1.2) (Potassium channel, inwardly rectifying subfamily J member 10)

sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; presynapse [GO:0098793]; ATP binding [GO:0005524]; ATP-activated inward rectifier potassium channel activity [GO:0015272]; G-protein activated inward rectifier potassium channel activity [GO:0015467]; inward rectifier potassium channel activity [GO:0005242]; adult walking behavior [GO:0007628]; central nervous system myelination [GO:0022010]; glutamate reuptake [GO:0051935]; potassium ion homeostasis [GO:0055075]; potassium ion import [GO:0010107]; potassium ion transport [GO:0006813]; regulation of ion transmembrane transport [GO:0034765]; regulation of long-term neuronal synaptic plasticity [GO:0048169]; regulation of resting membrane potential [GO:0060075]; visual perception [GO:0007601]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:24561201}; Multi-pass membrane protein. Basolateral cell membrane {ECO:0000269|PubMed:24561201}. Note=In kidney distal convoluted tubules, located in the basolateral membrane where it colocalizes with KCNJ16. {ECO:0000269|PubMed:24561201}.


uniprotID: Q14654
geneSymbol: KCNJ11
reactome: R-HSA-1296025;R-HSA-382556;R-HSA-422356;R-HSA-5578775;R-HSA-5683177;
pdb: 6C3O;6C3P;
length: 390
drug: DB01119;DB00222;DB01016;DB00308;DB00922;DB01154;DB00839;DB00661;DB01392;
snps: rs41309072 rs5219 rs28936678 rs5217 rs1800467 rs5215 rs41282930
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
ATP-sensitive inward rectifier potassium channel 11 (IKATP) (Inward rectifier K(+) channel Kir6.2) (Potassium channel, inwardly rectifying subfamily J member 11)

sequence:

opentargets:
acrosomal vesicle [GO:0001669]; axolemma [GO:0030673]; cell body fiber [GO:0070852]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endosome [GO:0005768]; integral component of plasma membrane [GO:0005887]; intercalated disc [GO:0014704]; inward rectifying potassium channel [GO:0008282]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; neuronal cell body [GO:0043025]; nuclear envelope [GO:0005635]; plasma membrane [GO:0005886]; T-tubule [GO:0030315]; ankyrin binding [GO:0030506]; ATP binding [GO:0005524]; ATP-activated inward rectifier potassium channel activity [GO:0015272]; heat shock protein binding [GO:0031072]; inward rectifier potassium channel activity [GO:0005242]; ion channel binding [GO:0044325]; potassium ion binding [GO:0030955]; protein C-terminus binding [GO:0008022]; voltage-gated potassium channel activity [GO:0005249]; cellular response to glucose stimulus [GO:0071333]; cellular response to nicotine [GO:0071316]; cellular response to tumor necrosis factor [GO:0071356]; glucose metabolic process [GO:0006006]; negative regulation of insulin secretion [GO:0046676]; nervous system process [GO:0050877]; positive regulation of cation channel activity [GO:2001259]; positive regulation of protein localization to plasma membrane [GO:1903078]; potassium ion import [GO:0010107]; potassium ion transmembrane transport [GO:0071805]; regulation of insulin secretion [GO:0050796]; regulation of membrane potential [GO:0042391]; response to ATP [GO:0033198]; response to drug [GO:0042493]; response to estradiol [GO:0032355]; response to ischemia [GO:0002931]; response to testosterone [GO:0033574]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14654-1; Sequence=Displayed; Name=2; IsoId=Q14654-2; Sequence=VSP_045270; 


uniprotID: Q14500
geneSymbol: KCNJ12
reactome: R-HSA-1296041;R-HSA-1296053;R-HSA-5576886;R-HSA-997272;
length: 433
go: ENSG00000184185;
drug: DB00204;DB01392;
snps: rs3752032 rs1657738 rs8076599 rs1657740 rs1714864 rs1657742 rs4985866 rs5021699
name:
ATP-sensitive inward rectifier potassium channel 12 (Inward rectifier K(+) channel Kir2.2) (IRK-2) (Inward rectifier K(+) channel Kir2.2v) (Potassium channel, inwardly rectifying subfamily J member 12)

sequence:

opentargets:
integral component of membrane [GO:0016021]; intrinsic component of membrane [GO:0031224]; plasma membrane [GO:0005886]; G-protein activated inward rectifier potassium channel activity [GO:0015467]; inward rectifier potassium channel activity [GO:0005242]; muscle contraction [GO:0006936]; potassium ion import [GO:0010107]; potassium ion transport [GO:0006813]; protein homotetramerization [GO:0051289]; regulation of heart contraction [GO:0008016]; regulation of ion transmembrane transport [GO:0034765]

location:
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.


uniprotID: O60928
geneSymbol: KCNJ13
length: 360
go: ENSG00000115474;
snps: rs757304681 rs121918542 rs1801251 rs143607153 rs374411396 rs17853727 rs17857137
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Inward rectifier potassium channel 13 (Inward rectifier K(+) channel Kir7.1) (Potassium channel, inwardly rectifying subfamily J member 13)

sequence:

opentargets:
integral component of membrane [GO:0016021]; inward rectifier potassium channel activity [GO:0005242]; potassium ion import [GO:0010107]; potassium ion transport [GO:0006813]; regulation of ion transmembrane transport [GO:0034765]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60928-1; Sequence=Displayed; Name=2; Synonyms=Kir7.1S; IsoId=O60928-2; Sequence=VSP_042627, VSP_042628; 


uniprotID: Q9UNX9
geneSymbol: KCNJ14
reactome: R-HSA-1296053;R-HSA-5576886;
length: 436
go: ENSG00000182324;
drug: DB01392;
snps: rs3745725
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
ATP-sensitive inward rectifier potassium channel 14 (Inward rectifier K(+) channel Kir2.4) (IRK-4) (Potassium channel, inwardly rectifying subfamily J member 14)

sequence:

opentargets:
dendrite [GO:0030425]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; inward rectifier potassium channel activity [GO:0005242]; potassium ion import [GO:0010107]; regulation of ion transmembrane transport [GO:0034765]


uniprotID: B7U540
geneSymbol: KCNJ18
length: 433
go: ENSG00000260458;
snps: rs527236151 rs527236152 rs527236154 rs527236155 rs672601244 rs527236158 rs527236159
name:
Inward rectifier potassium channel 18 (Inward rectifier K(+) channel Kir2.6) (Potassium channel, inwardly rectifying subfamily J member 18)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; inward rectifier potassium channel activity [GO:0005242]; potassium ion import [GO:0010107]; regulation of ion transmembrane transport [GO:0034765]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21665951}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q9Y691
geneSymbol: KCNMB2
reactome: R-HSA-1296052;R-HSA-418457;
pdb: 1JO6;
length: 235
go: ENSG00000197584;ENSG00000275163;
drug: DB01110;DB00721;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Calcium-activated potassium channel subunit beta-2 (BK channel subunit beta-2) (BKbeta2) (Hbeta2) (Calcium-activated potassium channel, subfamily M subunit beta-2) (Charybdotoxin receptor subunit beta-2) (Hbeta3) (K(VCA)beta-2) (Maxi K channel subunit beta-2) (Slo-beta-2)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; calcium-activated potassium channel activity [GO:0015269]; ion channel inhibitor activity [GO:0008200]; potassium channel regulator activity [GO:0015459]; action potential [GO:0001508]; detection of calcium ion [GO:0005513]; neuronal action potential [GO:0019228]; potassium ion transport [GO:0006813]; regulation of vasoconstriction [GO:0019229]


uniprotID: Q9NPA1
geneSymbol: KCNMB3
reactome: R-HSA-1296052;R-HSA-418457;
length: 279
go: ENSG00000171121;
drug: DB01110;DB00721;
snps: rs1170672 rs7645550 rs2276802 rs55710741 rs145985409
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Calcium-activated potassium channel subunit beta-3 (BK channel subunit beta-3) (BKbeta3) (Hbeta3) (Calcium-activated potassium channel, subfamily M subunit beta-3) (Charybdotoxin receptor subunit beta-3) (K(VCA)beta-3) (Maxi K channel subunit beta-3) (Slo-beta-3)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; calcium-activated potassium channel activity [GO:0015269]; potassium channel regulator activity [GO:0015459]; action potential [GO:0001508]; detection of calcium ion [GO:0005513]; neuronal action potential [GO:0019228]; potassium ion transport [GO:0006813]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=3d; IsoId=Q9NPA1-1; Sequence=Displayed; Name=2; Synonyms=3a; IsoId=Q9NPA1-2; Sequence=VSP_009827; Name=3; Synonyms=3c; IsoId=Q9NPA1-3; Sequence=VSP_009828; Name=4; Synonyms=3b; IsoId=Q9NPA1-4; Sequence=VSP_009829, VSP_009830; Name=5; IsoId=Q9NPA1-5; Sequence=VSP_009827, VSP_046090, VSP_046091; Note=No experimental confirmation available.; 


uniprotID: Q86W47
geneSymbol: KCNMB4
reactome: R-HSA-1296052;R-HSA-418457;
pdb: 5Y7L;
length: 210
go: ENSG00000135643;
drug: DB01110;DB00721;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Calcium-activated potassium channel subunit beta-4 (BK channel subunit beta-4) (BKbeta4) (Hbeta4) (Calcium-activated potassium channel, subfamily M subunit beta-4) (Charybdotoxin receptor subunit beta-4) (K(VCA)beta-4) (Maxi K channel subunit beta-4) (Slo-beta-4)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; calcium-activated potassium channel activity [GO:0015269]; potassium channel regulator activity [GO:0015459]; action potential [GO:0001508]; chemical synaptic transmission [GO:0007268]; detection of calcium ion [GO:0005513]; neuronal action potential [GO:0019228]; potassium ion transport [GO:0006813]; regulation of neurotransmitter secretion [GO:0046928]; regulation of vasoconstriction [GO:0019229]


uniprotID: Q9P0J7
geneSymbol: KCMF1
reactome: R-HSA-6798695;
length: 381
go: ENSG00000176407;
name:
E3 ubiquitin-protein ligase KCMF1 (EC 2.3.2.27) (FGF-induced in gastric cancer) (Potassium channel modulatory factor) (PCMF) (RING-type E3 ubiquitin transferase KCMF1) (ZZ-type zinc finger-containing protein 1)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; nucleic acid binding [GO:0003676]; transferase activity [GO:0016740]; zinc ion binding [GO:0008270]; neutrophil degranulation [GO:0043312]


uniprotID: Q9NZV8
geneSymbol: KCND2
reactome: R-HSA-1296072;R-HSA-5576894;
length: 630
go: ENSG00000184408;
drug: DB00321;DB06637;DB00280;DB00458;
snps: rs587777631
name:
Potassium voltage-gated channel subfamily D member 2 (Voltage-gated potassium channel subunit Kv4.2)

sequence:

opentargets:
cell junction [GO:0030054]; dendrite [GO:0030425]; dendritic spine [GO:0043197]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic specialization membrane [GO:0099060]; intrinsic component of plasma membrane [GO:0031226]; neuronal cell body membrane [GO:0032809]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; plasma membrane raft [GO:0044853]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; voltage-gated potassium channel complex [GO:0008076]; A-type (transient outward) potassium channel activity [GO:0005250]; metal ion binding [GO:0046872]; voltage-gated ion channel activity involved in regulation of postsynaptic membrane potential [GO:1905030]; voltage-gated potassium channel activity [GO:0005249]; action potential [GO:0001508]; cellular response to hypoxia [GO:0071456]; chemical synaptic transmission [GO:0007268]; locomotor rhythm [GO:0045475]; neuronal action potential [GO:0019228]; potassium ion transmembrane transport [GO:0071805]; protein homooligomerization [GO:0051260]; regulation of ion transmembrane transport [GO:0034765]; sensory perception of pain [GO:0019233]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11102480, ECO:0000269|PubMed:11507158, ECO:0000269|PubMed:14623880, ECO:0000269|PubMed:14695263, ECO:0000269|PubMed:14980201, ECO:0000269|PubMed:15454437, ECO:0000269|PubMed:16934482, ECO:0000269|PubMed:19171772, ECO:0000269|PubMed:24501278, ECO:0000269|PubMed:24811166}; Multi-pass membrane protein {ECO:0000269|PubMed:11102480, ECO:0000269|PubMed:14980201, ECO:0000305}. Cell projection, dendrite {ECO:0000269|PubMed:11102480}. Cell junction, synapse {ECO:0000250|UniProtKB:Q63881}. Perikaryon {ECO:0000250|UniProtKB:Q63881}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250|UniProtKB:Q63881}. Cell projection, dendritic spine {ECO:0000250|UniProtKB:Q63881}. Cell junction {ECO:0000250|UniProtKB:Q63881}. Note=In neurons, primarily detected on dendrites, dendritic spines and on the neuron cell body, but not on axons. Localized preferentially at the dendrites of pyramidal cells in the hippocampus CA1 layer. Detected at GABAergic synapses. Detected at cell junctions that are distinct from synaptic cell contacts. Detected in lipid rafts. Detected primarily at the endoplasmic reticulum or Golgi when expressed by itself (PubMed:15454437). Interaction with KCNIP1, KCNIP2, KCNIP3 or KCNIP4 promotes expression at the cell membrane (PubMed:15454437, PubMed:24811166). Interaction with DPP6 or DPP10 promotes expression at the cell membrane (By similarity). Internalized from the cell membrane by clathrin-dependent endocytosis in response to activation of AMPA-selective glutamate receptors and PKA-mediated phosphorylation at Ser-552. Redistributed from dendritic spines to the main dendritic shaft in response to activation of AMPA-selective glutamate receptors and activation of PKA (By similarity). {ECO:0000250|UniProtKB:Q63881, ECO:0000250|UniProtKB:Q9Z0V2, ECO:0000269|PubMed:15454437, ECO:0000269|PubMed:24811166}.


uniprotID: P05111
geneSymbol: INHA
reactome: R-HSA-209822;
name: Inhibin alpha chain
length: 366
go: ENSG00000123999;
snps: rs12720061 rs12720062
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; inhibin A complex [GO:0043512]; inhibin B complex [GO:0043513]; inhibin-betaglycan-ActRII complex [GO:0034673]; neuronal cell body [GO:0043025]; photoreceptor inner segment [GO:0001917]; photoreceptor outer segment [GO:0001750]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; hormone activity [GO:0005179]; inhibin binding [GO:0034711]; protein heterodimerization activity [GO:0046982]; signaling receptor binding [GO:0005102]; transforming growth factor beta receptor binding [GO:0005160]; cell cycle arrest [GO:0007050]; cell development [GO:0048468]; cell differentiation [GO:0030154]; cell surface receptor signaling pathway [GO:0007166]; cell-cell signaling [GO:0007267]; erythrocyte differentiation [GO:0030218]; hemoglobin biosynthetic process [GO:0042541]; male gonad development [GO:0008584]; negative regulation of B cell differentiation [GO:0045578]; negative regulation of cell cycle [GO:0045786]; negative regulation of follicle-stimulating hormone secretion [GO:0046882]; negative regulation of interferon-gamma biosynthetic process [GO:0045077]; negative regulation of macrophage differentiation [GO:0045650]; negative regulation of phosphorylation [GO:0042326]; ovarian follicle development [GO:0001541]; positive regulation of follicle-stimulating hormone secretion [GO:0046881]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; regulation of apoptotic process [GO:0042981]; regulation of cell cycle [GO:0051726]; regulation of cell proliferation [GO:0042127]; regulation of MAPK cascade [GO:0043408]; signal transduction [GO:0007165]; skeletal system development [GO:0001501]; SMAD protein signal transduction [GO:0060395]


uniprotID: P15382
geneSymbol: KCNE1
reactome: R-HSA-5576890;R-HSA-5576893;
pdb: 2K21;
length: 129
go: ENSG00000180509;
drug: DB04957;DB00808;
name:
Potassium voltage-gated channel subfamily E member 1 (Delayed rectifier potassium channel subunit IsK) (IKs producing slow voltage-gated potassium channel subunit beta Mink) (Minimal potassium channel)

sequence:
MILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNVYIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP

opentargets:
apical plasma membrane [GO:0016324]; cell surface [GO:0009986]; lysosome [GO:0005764]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; Z disc [GO:0030018]; delayed rectifier potassium channel activity [GO:0005251]; ion channel binding [GO:0044325]; potassium channel regulator activity [GO:0015459]; telethonin binding [GO:0031433]; cardiac muscle cell action potential involved in contraction [GO:0086002]; cellular response to cAMP [GO:0071320]; membrane repolarization [GO:0086009]; membrane repolarization during action potential [GO:0086011]; membrane repolarization during cardiac muscle cell action potential [GO:0086013]; membrane repolarization during ventricular cardiac muscle cell action potential [GO:0098915]; negative regulation of delayed rectifier potassium channel activity [GO:1902260]; negative regulation of protein targeting to membrane [GO:0090315]; positive regulation of potassium ion transmembrane transport [GO:1901381]; potassium ion export [GO:0071435]; potassium ion transmembrane transport [GO:0071805]; protein N-linked glycosylation [GO:0006487]; protein O-linked glycosylation [GO:0006493]; regulation of delayed rectifier potassium channel activity [GO:1902259]; regulation of heart rate by cardiac conduction [GO:0086091]; regulation of potassium ion transmembrane transport [GO:1901379]; regulation of ventricular cardiac muscle cell membrane repolarization [GO:0060307]; sensory perception of sound [GO:0007605]; ventricular cardiac muscle cell action potential [GO:0086005]

snps:
rs28933384 rs199473348 rs144917638 rs199473350 rs17857111 rs199473351 rs1805127 rs199473353 rs17173509 rs199473355 rs199473644 rs281865421 rs147187721 rs141813529 rs199473645 rs79654911 rs199473646 rs74315446 rs74315445 rs199473360 rs1805128 rs199473361 rs199473362 rs77442996 rs142511345 rs199473647 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19219384}; Single-pass type I membrane protein {ECO:0000305}. Apical cell membrane {ECO:0000250|UniProtKB:P15383}. Membrane raft {ECO:0000269|PubMed:20533308}. Note=Colocalizes with KCNB1 at the plasma membrane (By similarity). Targets to the membrane raft when associated with KCNQ1 (PubMed:20533308). {ECO:0000250|UniProtKB:P15383, ECO:0000269|PubMed:20533308}.


uniprotID: Q9NXR8
geneSymbol: ING3
reactome: R-HSA-3214847;
pdb: 1X4I;
name: Inhibitor of growth protein 3 (p47ING3)
length: 418
go: ENSG00000071243;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
NuA4 histone acetyltransferase complex [GO:0035267]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; Piccolo NuA4 histone acetyltransferase complex [GO:0032777]; Swr1 complex [GO:0000812]; metal ion binding [GO:0046872]; methylated histone binding [GO:0035064]; histone H2A acetylation [GO:0043968]; histone H4 acetylation [GO:0043967]; positive regulation of apoptotic process [GO:0043065]; regulation of growth [GO:0040008]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NXR8-1; Sequence=Displayed; Name=2; IsoId=Q9NXR8-2; Sequence=VSP_012885, VSP_012886; 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=Q9NXR8-3; Sequence=VSP_012887, VSP_012888; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q9UNL4
geneSymbol: ING4
reactome: R-HSA-3214847;
pdb: 2K1J;2M1R;2PNX;2VNF;4AFL;
name: Inhibitor of growth protein 4 (p29ING4)
length: 249
go: ENSG00000111653;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15029197, ECO:0000269|PubMed:16973615}.
sequence:

opentargets:
cytosol [GO:0005829]; histone acetyltransferase complex [GO:0000123]; intermediate filament cytoskeleton [GO:0045111]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; methylated histone binding [GO:0035064]; transcription coactivator activity [GO:0003713]; apoptotic process [GO:0006915]; cell cycle arrest [GO:0007050]; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator [GO:0006978]; DNA replication [GO:0006260]; histone H3 acetylation [GO:0043966]; histone H4-K12 acetylation [GO:0043983]; histone H4-K5 acetylation [GO:0043981]; histone H4-K8 acetylation [GO:0043982]; negative regulation of cell proliferation [GO:0008285]; negative regulation of growth [GO:0045926]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of apoptotic process [GO:0043065]; protein acetylation [GO:0006473]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; Synonyms=ING4_v1; IsoId=Q9UNL4-1; Sequence=Displayed; Name=2; IsoId=Q9UNL4-2; Sequence=VSP_012518, VSP_012519; Note=May be due to a competing donor splice site.; Name=3; Synonyms=deltaEx2; IsoId=Q9UNL4-3; Sequence=VSP_041288; Name=4; Synonyms=ING4_v4; IsoId=Q9UNL4-4; Sequence=VSP_041291; Note=Lacks the nuclear localization signal (NLS), resulting in increased cytoplasmic localization. {ECO:0000244|PubMed:19608861}; Name=5; IsoId=Q9UNL4-5; Sequence=VSP_041289; Name=6; Synonyms=ING4_v2; IsoId=Q9UNL4-6; Sequence=VSP_041292; Note=Lacks the nuclear localization signal (NLS), resulting in increased cytoplasmic localization.; Name=7; Synonyms=ING4_v3; IsoId=Q9UNL4-7; Sequence=VSP_041290; Note=Lacks the nuclear localization signal (NLS), resulting in increased cytoplasmic localization.; Name=8; Synonyms=deltaEx6A; IsoId=Q9UNL4-8; Sequence=VSP_041293; 


uniprotID: Q8WYH8
geneSymbol: ING5
reactome: R-HSA-3214847;R-HSA-6804758;
pdb: 3C6W;5ME8;5MTO;
name: Inhibitor of growth protein 5 (p28ING5)
length: 240
go: ENSG00000168395;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18794358}.
sequence:

opentargets:
MOZ/MORF histone acetyltransferase complex [GO:0070776]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; methylated histone binding [GO:0035064]; DNA replication [GO:0006260]; histone H3 acetylation [GO:0043966]; negative regulation of cell proliferation [GO:0008285]; negative regulation of growth [GO:0045926]; positive regulation of apoptotic process [GO:0043065]; positive regulation of transcription, DNA-templated [GO:0045893]; protein acetylation [GO:0006473]; regulation of signal transduction by p53 class mediator [GO:1901796]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WYH8-1; Sequence=Displayed; Name=2; IsoId=Q8WYH8-2; Sequence=VSP_012528; Note=No experimental confirmation available.; 


uniprotID: Q9H3M0
geneSymbol: KCNF1
reactome: R-HSA-1296072;
length: 494
go: ENSG00000162975;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Potassium voltage-gated channel subfamily F member 1 (Voltage-gated potassium channel subunit Kv5.1) (kH1)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; potassium channel activity [GO:0005267]; voltage-gated potassium channel activity [GO:0005249]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]; protein homooligomerization [GO:0051260]; regulation of ion transmembrane transport [GO:0034765]


uniprotID: P15260
geneSymbol: IFNGR1
reactome: R-HSA-877300;R-HSA-877312;
pdb: 1FG9;1FYH;1JRH;
length: 489
go: ENSG00000027697;
drug: DB00033;
name:
Interferon gamma receptor 1 (IFN-gamma receptor 1) (IFN-gamma-R1) (CDw119) (Interferon gamma receptor alpha-chain) (IFN-gamma-R-alpha) (CD antigen CD119)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; cytokine binding [GO:0019955]; interferon-gamma receptor activity [GO:0004906]; cytokine-mediated signaling pathway [GO:0019221]; interferon-gamma-mediated signaling pathway [GO:0060333]; regulation of interferon-gamma-mediated signaling pathway [GO:0060334]; response to virus [GO:0009615]; signal transduction [GO:0007165]

snps:
rs11575936 rs945137618 rs121912715 rs17175322 rs104893974 rs104893973 rs137854904 rs55666220 rs1311661488 rs17175350 rs199641966 rs374787981 rs1887415 rs752113778 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P15260-1; Sequence=Displayed; Name=2; IsoId=P15260-2; Sequence=VSP_055589, VSP_055590, VSP_055591; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10811850}; Single-pass type I membrane protein {ECO:0000255}.


uniprotID: P38484
geneSymbol: IFNGR2
reactome: R-HSA-877300;R-HSA-877312;
pdb: 5EH1;
length: 337
go: ENSG00000159128;
drug: DB00033;
snps: rs4986958 rs9808753 rs17878639 rs74315444 rs17878711
name:
Interferon gamma receptor 2 (IFN-gamma receptor 2) (IFN-gamma-R2) (Interferon gamma receptor accessory factor 1) (AF-1) (Interferon gamma receptor beta-chain) (IFN-gamma-R-beta) (Interferon gamma transducer 1)

sequence:

opentargets:
cytoplasmic vesicle membrane [GO:0030659]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; Golgi membrane [GO:0000139]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; interferon-gamma receptor activity [GO:0004906]; cell surface receptor signaling pathway [GO:0007166]; cytokine-mediated signaling pathway [GO:0019221]; interferon-gamma-mediated signaling pathway [GO:0060333]; regulation of interferon-gamma-mediated signaling pathway [GO:0060334]; response to virus [GO:0009615]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15356148, ECO:0000269|PubMed:15924140, ECO:0000269|PubMed:27599734}; Single-pass type I membrane protein {ECO:0000255}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:10605012}; Single-pass type I membrane protein {ECO:0000255}. Golgi apparatus membrane {ECO:0000269|PubMed:23963039}; Single-pass type I membrane protein {ECO:0000255}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:23963039}; Single-pass type I membrane protein {ECO:0000255}. Cytoplasm {ECO:0000269|PubMed:10605012}. Note=Has low cell surface expression and high cytoplasmic expression in T cells. The bias towards cytoplasmic expression may be due to ligand-independent receptor internalization and recycling. {ECO:0000269|PubMed:10605012, ECO:0000269|PubMed:15356148}.


uniprotID: Q9P2D3
geneSymbol: HEATR5B
name: HEAT repeat-containing protein 5B
length: 2071
go: ENSG00000008869;
snps: rs2302657
sequence:

opentargets:
cytosol [GO:0005829]; endocytic vesicle [GO:0030139]; membrane [GO:0016020]; endocytosis [GO:0006897]; protein localization [GO:0008104]; retrograde transport, endosome to Golgi [GO:0042147]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9P2D3-1; Sequence=Displayed; Name=2; IsoId=Q9P2D3-2; Sequence=VSP_029690, VSP_029691; Name=3; IsoId=Q9P2D3-3; Sequence=VSP_029692; 


uniprotID: Q8TDB4
geneSymbol: MGARP
length: 240
go: ENSG00000137463;
snps: rs3208941
name:
Protein MGARP (Corneal endothelium-specific protein 1) (CESP-1) (Hypoxia up-regulated mitochondrial movement regulator protein) (Mitochondria-localized glutamic acid-rich protein) (Ovary-specific acidic protein)

sequence:

opentargets:
axon cytoplasm [GO:1904115]; integral component of mitochondrial outer membrane [GO:0031307]; mitochondrion [GO:0005739]; anterograde axonal transport [GO:0008089]; axonal transport of mitochondrion [GO:0019896]; cellular response to gonadotropin-releasing hormone [GO:0097211]; cellular response to hypoxia [GO:0071456]; cellular response to steroid hormone stimulus [GO:0071383]; positive regulation of mitochondrion organization [GO:0010822]; protein targeting to mitochondrion [GO:0006626]; retrograde axonal transport [GO:0008090]

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:16565373, ECO:0000269|PubMed:21447634}. Mitochondrion outer membrane {ECO:0000250|UniProtKB:Q8VI64}; Single-pass type IV membrane protein {ECO:0000250|UniProtKB:Q8VI64}; Cytoplasmic side {ECO:0000250|UniProtKB:Q8VI64}. Note=Colocalizes with RHOT1, RHOT2, TRAK1 and TRAK2 at the mitochondrion. {ECO:0000250|UniProtKB:Q8VI64}.


uniprotID: O43719
geneSymbol: HTATSF1
pdb: 2DIT;
name: HIV Tat-specific factor 1 (Tat-SF1)
length: 755
go: ENSG00000102241;
snps: rs2071913 rs12852634 rs17339410
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15485897, ECO:0000269|PubMed:8849451}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; U2 snRNP [GO:0005686]; U2-type spliceosomal complex [GO:0005684]; RNA binding [GO:0003723]; mRNA splicing, via spliceosome [GO:0000398]; regulation of DNA-templated transcription, elongation [GO:0032784]; regulation of transcription by RNA polymerase II [GO:0006357]; viral genome replication [GO:0019079]


uniprotID: Q12891
geneSymbol: HYAL2
reactome: R-HSA-2160916;
length: 473
go: ENSG00000068001;
snps: rs709210 rs35455589
name:
Hyaluronidase-2 (Hyal-2) (EC 3.2.1.35) (Hyaluronoglucosaminidase-2) (Lung carcinoma protein 2) (LuCa-2)

sequence:

opentargets:
anchored component of external side of plasma membrane [GO:0031362]; anchored component of plasma membrane [GO:0046658]; apical plasma membrane [GO:0016324]; cell surface [GO:0009986]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; endocytic vesicle [GO:0030139]; endoplasmic reticulum [GO:0005783]; Golgi membrane [GO:0000139]; lysosome [GO:0005764]; membrane raft [GO:0045121]; microvillus [GO:0005902]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; RNA polymerase II transcription factor complex [GO:0090575]; enzyme binding [GO:0019899]; hyaluronic acid binding [GO:0005540]; hyaluronoglucuronidase activity [GO:0033906]; hyalurononglucosaminidase activity [GO:0004415]; receptor signaling protein tyrosine kinase inhibitor activity [GO:0030294]; receptor tyrosine kinase binding [GO:0030971]; transcription coactivator activity [GO:0003713]; transforming growth factor beta binding [GO:0050431]; virus receptor activity [GO:0001618]; carbohydrate metabolic process [GO:0005975]; cartilage development [GO:0051216]; cellular response to fibroblast growth factor stimulus [GO:0044344]; cellular response to interleukin-1 [GO:0071347]; cellular response to transforming growth factor beta stimulus [GO:0071560]; cellular response to tumor necrosis factor [GO:0071356]; cellular response to UV-B [GO:0071493]; defense response to virus [GO:0051607]; fusion of virus membrane with host plasma membrane [GO:0019064]; glycosaminoglycan catabolic process [GO:0006027]; hematopoietic progenitor cell differentiation [GO:0002244]; hyaluronan catabolic process [GO:0030214]; kidney development [GO:0001822]; monocyte activation [GO:0042117]; multicellular organism aging [GO:0010259]; multicellular organismal iron ion homeostasis [GO:0060586]; negative regulation of cell growth [GO:0030308]; negative regulation of fibroblast migration [GO:0010764]; negative regulation of MAP kinase activity [GO:0043407]; negative regulation of protein kinase B signaling [GO:0051898]; negative regulation of protein tyrosine kinase activity [GO:0061099]; positive regulation of extrinsic apoptotic signaling pathway [GO:2001238]; positive regulation of inflammatory response [GO:0050729]; positive regulation of interleukin-6 secretion [GO:2000778]; positive regulation of interleukin-8 secretion [GO:2000484]; positive regulation of protein import into nucleus [GO:0042307]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of urine volume [GO:0035810]; renal water absorption [GO:0070295]; response to antibiotic [GO:0046677]; response to reactive oxygen species [GO:0000302]; response to virus [GO:0009615]; skeletal system morphogenesis [GO:0048705]; transformation of host cell by virus [GO:0019087]; viral entry into host cell [GO:0046718]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11296287}; Lipid-anchor, GPI-anchor {ECO:0000269|PubMed:11296287}.


uniprotID: Q9NWB7
geneSymbol: IFT57
reactome: R-HSA-5610787;R-HSA-5620924;
length: 429
go: ENSG00000114446;
name:
Intraflagellar transport protein 57 homolog (Dermal papilla-derived protein 8) (Estrogen-related receptor beta-like protein 1) (HIP1-interacting protein) (MHS4R2)

sequence:

opentargets:
axoneme [GO:0005930]; centrosome [GO:0005813]; ciliary basal body [GO:0036064]; ciliary tip [GO:0097542]; cilium [GO:0005929]; dendrite terminus [GO:0044292]; Golgi apparatus [GO:0005794]; intraciliary transport particle B [GO:0030992]; photoreceptor connecting cilium [GO:0032391]; DNA binding [GO:0003677]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; apoptotic process [GO:0006915]; heart looping [GO:0001947]; intraciliary transport involved in cilium assembly [GO:0035735]; left/right pattern formation [GO:0060972]; motile cilium assembly [GO:0044458]; negative regulation of epithelial cell proliferation [GO:0050680]; neural tube closure [GO:0001843]; non-motile cilium assembly [GO:1905515]; regulation of apoptotic process [GO:0042981]; smoothened signaling pathway [GO:0007224]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250}. Note=Concentrates within the inner segment of cilia. {ECO:0000250}.


uniprotID: P05019
geneSymbol: IGF1
reactome: R-HSA-114608;R-HSA-2404192;R-HSA-2428928;R-HSA-2428933;R-HSA-381426;R-HSA-422085;
name: Insulin-like growth factor I (IGF-I) (Mechano growth factor) (MGF) (Somatomedin-C)
length: 195
go: ENSG00000017427;
snps: rs587779350 rs17884626 rs6213
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:P05017}.
pdb:
1B9G;1BQT;1GF1;1GZR;1GZY;1GZZ;1H02;1H59;1IMX;1PMX;1TGR;1WQJ;2DSP;2DSQ;2DSR;2GF1;3GF1;3LRI;4XSS;5U8Q;6FF3;

sequence:
MGKISSLPTQLFKCCFCDFLKVKMHTMSSSHLFYLALCLLTFTSSATAGPETLCGAELVDALQFVCGDRGFYFNKPTGYGSSSRRAPQTGIVDECCFRSCDLRRLEMYCAPLKPAKSARSVRAQRHTDMPKTQKYQPPSTNKNTKSQRRKGWPKTHPGGEQKEGTEASLQIRGKKKEQRREIGSRNAECRGKKGK

opentargets:
alphav-beta3 integrin-IGF-1-IGF1R complex [GO:0035867]; exocytic vesicle [GO:0070382]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; insulin-like growth factor binding protein complex [GO:0016942]; insulin-like growth factor ternary complex [GO:0042567]; platelet alpha granule lumen [GO:0031093]; growth factor activity [GO:0008083]; hormone activity [GO:0005179]; insulin receptor binding [GO:0005158]; insulin-like growth factor receptor binding [GO:0005159]; integrin binding [GO:0005178]; activation of MAPK activity [GO:0000187]; activation of protein kinase B activity [GO:0032148]; bone mineralization involved in bone maturation [GO:0035630]; cell activation [GO:0001775]; cell proliferation [GO:0008283]; cellular protein metabolic process [GO:0044267]; cellular response to amyloid-beta [GO:1904646]; ERK1 and ERK2 cascade [GO:0070371]; glycolate metabolic process [GO:0009441]; insulin-like growth factor receptor signaling pathway [GO:0048009]; muscle hypertrophy [GO:0014896]; muscle organ development [GO:0007517]; myoblast differentiation [GO:0045445]; myoblast proliferation [GO:0051450]; myotube cell development [GO:0014904]; negative regulation of apoptotic process [GO:0043066]; negative regulation of extrinsic apoptotic signaling pathway [GO:2001237]; negative regulation of gene expression [GO:0010629]; negative regulation of oocyte development [GO:0060283]; negative regulation of release of cytochrome c from mitochondria [GO:0090201]; negative regulation of smooth muscle cell apoptotic process [GO:0034392]; negative regulation of vascular associated smooth muscle cell apoptotic process [GO:1905460]; phosphatidylinositol 3-kinase signaling [GO:0014065]; phosphatidylinositol-mediated signaling [GO:0048015]; platelet degranulation [GO:0002576]; positive regulation of activated T cell proliferation [GO:0042104]; positive regulation of calcineurin-NFAT signaling cascade [GO:0070886]; positive regulation of cardiac muscle hypertrophy [GO:0010613]; positive regulation of cell growth involved in cardiac muscle cell development [GO:0061051]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of DNA binding [GO:0043388]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of gene expression [GO:0010628]; positive regulation of glucose import [GO:0046326]; positive regulation of glycogen biosynthetic process [GO:0045725]; positive regulation of glycolytic process [GO:0045821]; positive regulation of glycoprotein biosynthetic process [GO:0010560]; positive regulation of insulin-like growth factor receptor signaling pathway [GO:0043568]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of mitotic nuclear division [GO:0045840]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of protein import into nucleus, translocation [GO:0033160]; positive regulation of protein secretion [GO:0050714]; positive regulation of Ras protein signal transduction [GO:0046579]; positive regulation of smooth muscle cell migration [GO:0014911]; positive regulation of smooth muscle cell proliferation [GO:0048661]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription regulatory region DNA binding [GO:2000679]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of trophectodermal cell proliferation [GO:1904075]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; positive regulation of vascular smooth muscle cell proliferation [GO:1904707]; protein kinase B signaling [GO:0043491]; protein stabilization [GO:0050821]; proteoglycan biosynthetic process [GO:0030166]; Ras protein signal transduction [GO:0007265]; regulation of gene expression [GO:0010468]; regulation of multicellular organism growth [GO:0040014]; response to heat [GO:0009408]; signal transduction [GO:0007165]; skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration [GO:0014834]; skeletal system development [GO:0001501]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=IGF-IB; IsoId=P05019-1; Sequence=Displayed; Name=2; Synonyms=IGF-IA; IsoId=P05019-2; Sequence=VSP_039637; Name=3; IsoId=P05019-3; Sequence=VSP_043317, VSP_039637; Note=Expressed in liver.; Name=4; IsoId=P05019-4; Sequence=VSP_047399; Note=Gene prediction based on EST data.; 


uniprotID: P0DOX2
name: Immunoglobulin alpha-2 heavy chain (Immunoglobulin alpha-2 heavy chain BUT)
length: 455
sequence:

opentargets:
extracellular region [GO:0005576]; plasma membrane [GO:0005886]; antigen binding [GO:0003823]; adaptive immune response [GO:0002250]


uniprotID: Q9UK17
geneSymbol: KCND3
reactome: R-HSA-1296072;R-HSA-5576894;
pdb: 1S1G;2NZ0;
length: 655
go: ENSG00000171385;
drug: DB00321;DB06637;DB00280;DB00458;
snps: rs797045634 rs397515476 rs397515477 rs397515478 rs786205867 rs150401343 rs149344567
name:
Potassium voltage-gated channel subfamily D member 3 (Voltage-gated potassium channel subunit Kv4.3)

sequence:

opentargets:
dendrite [GO:0030425]; GABA-ergic synapse [GO:0098982]; integral component of membrane [GO:0016021]; integral component of postsynaptic specialization membrane [GO:0099060]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; sarcolemma [GO:0042383]; voltage-gated potassium channel complex [GO:0008076]; A-type (transient outward) potassium channel activity [GO:0005250]; ion channel binding [GO:0044325]; metal ion binding [GO:0046872]; voltage-gated potassium channel activity [GO:0005249]; membrane repolarization [GO:0086009]; membrane repolarization during cardiac muscle cell action potential [GO:0086013]; membrane repolarization during ventricular cardiac muscle cell action potential [GO:0098915]; potassium ion export [GO:0071435]; potassium ion export across plasma membrane [GO:0097623]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]; protein homooligomerization [GO:0051260]; regulation of heart rate by cardiac conduction [GO:0086091]; regulation of ion transmembrane transport [GO:0034765]; ventricular cardiac muscle cell membrane repolarization [GO:0099625]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=KCND3L, Long; IsoId=Q9UK17-1; Sequence=Displayed; Name=2; Synonyms=KCND3S, Short; IsoId=Q9UK17-2; Sequence=VSP_008826; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q62897}; Multi-pass membrane protein {ECO:0000255}. Cell membrane, sarcolemma {ECO:0000250|UniProtKB:Q62897}; Multi-pass membrane protein {ECO:0000255}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q62897}. Note=Interaction with palmitoylated KCNIP2 and KCNIP3 enhances cell surface expression. {ECO:0000250|UniProtKB:Q62897}.


uniprotID: Q9UK53
geneSymbol: ING1
pdb: 2QIC;
name: Inhibitor of growth protein 1
length: 422
go: ENSG00000153487;
snps: rs7338333
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; metal ion binding [GO:0046872]; methylated histone binding [GO:0035064]; cell cycle [GO:0007049]; negative regulation of cell growth [GO:0030308]; negative regulation of cell proliferation [GO:0008285]; regulation of cell death [GO:0010941]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=p47ING1a, ING1-ALT2; IsoId=Q9UK53-1; Sequence=Displayed; Name=2; Synonyms=p33ING1b, Variant A; IsoId=Q9UK53-2; Sequence=VSP_009126; Name=3; Synonyms=p24ING1c, ING1-ALT1, Variant B; IsoId=Q9UK53-3; Sequence=VSP_009129; Name=4; Synonyms=Variant C; IsoId=Q9UK53-4; Sequence=VSP_009127; Name=5; IsoId=Q9UK53-5; Sequence=VSP_009128; 


uniprotID: P08476
geneSymbol: INHBA
reactome: R-HSA-1502540;R-HSA-209822;R-HSA-2473224;
pdb: 1NYS;1NYU;1S4Y;2ARP;2ARV;2B0U;2P6A;3B4V;4MID;5HLY;5HLZ;
name: Inhibin beta A chain (Activin beta-A chain) (Erythroid differentiation protein) (EDF)
length: 426
go: ENSG00000122641;
snps: rs41294833 rs1361491625
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
activin A complex [GO:0043509]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; inhibin A complex [GO:0043512]; perinuclear region of cytoplasm [GO:0048471]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; hormone activity [GO:0005179]; identical protein binding [GO:0042802]; inhibin binding [GO:0034711]; peptide hormone binding [GO:0017046]; protein heterodimerization activity [GO:0046982]; transforming growth factor beta receptor binding [GO:0005160]; type II activin receptor binding [GO:0070699]; activin receptor signaling pathway [GO:0032924]; cell cycle arrest [GO:0007050]; cell development [GO:0048468]; cell differentiation [GO:0030154]; cell surface receptor signaling pathway [GO:0007166]; cell-cell signaling [GO:0007267]; cellular response to cholesterol [GO:0071397]; cellular response to follicle-stimulating hormone stimulus [GO:0071372]; defense response [GO:0006952]; endodermal cell differentiation [GO:0035987]; erythrocyte differentiation [GO:0030218]; extrinsic apoptotic signaling pathway [GO:0097191]; eyelid development in camera-type eye [GO:0061029]; G1/S transition of mitotic cell cycle [GO:0000082]; GABAergic neuron differentiation [GO:0097154]; hair follicle development [GO:0001942]; hematopoietic progenitor cell differentiation [GO:0002244]; hemoglobin biosynthetic process [GO:0042541]; male gonad development [GO:0008584]; mesodermal cell differentiation [GO:0048333]; negative regulation of B cell differentiation [GO:0045578]; negative regulation of cell cycle [GO:0045786]; negative regulation of cell growth [GO:0030308]; negative regulation of cell proliferation [GO:0008285]; negative regulation of follicle-stimulating hormone secretion [GO:0046882]; negative regulation of interferon-gamma biosynthetic process [GO:0045077]; negative regulation of macrophage differentiation [GO:0045650]; negative regulation of phosphorylation [GO:0042326]; nervous system development [GO:0007399]; odontogenesis [GO:0042476]; ovarian follicle development [GO:0001541]; positive regulation of cellular protein metabolic process [GO:0032270]; positive regulation of erythrocyte differentiation [GO:0045648]; positive regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001241]; positive regulation of follicle-stimulating hormone secretion [GO:0046881]; positive regulation of gene expression [GO:0010628]; positive regulation of ovulation [GO:0060279]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; progesterone secretion [GO:0042701]; regulation of apoptotic process [GO:0042981]; regulation of follicle-stimulating hormone secretion [GO:0046880]; regulation of MAPK cascade [GO:0043408]; regulation of transcription by RNA polymerase II [GO:0006357]; response to drug [GO:0042493]; roof of mouth development [GO:0060021]; SMAD protein signal transduction [GO:0060395]; striatal medium spiny neuron differentiation [GO:0021773]


uniprotID: Q9Y6H6
geneSymbol: KCNE3
reactome: R-HSA-5576890;R-HSA-5576893;
pdb: 2NDJ;
length: 103
go: ENSG00000175538;
snps: rs200856070 rs34604640 rs17215437 rs121908441
name:
Potassium voltage-gated channel subfamily E member 3 (MinK-related peptide 2) (Minimum potassium ion channel-related peptide 2) (Potassium channel subunit beta MiRP2)

sequence:
METTNGTETWYESLHAVLKALNATLHSNLLCRPGPGLGPDNQTEERRASLPGRDDNSYMYILFVMFLFAVTVGSLILGYTRSRKVDKRSDPYHVYIKNRVSMI

opentargets:
cytoplasm [GO:0005737]; dendrite [GO:0030425]; membrane raft [GO:0045121]; neuronal cell body membrane [GO:0032809]; perikaryon [GO:0043204]; vesicle [GO:0031982]; voltage-gated potassium channel complex [GO:0008076]; ion channel binding [GO:0044325]; potassium channel regulator activity [GO:0015459]; voltage-gated potassium channel activity [GO:0005249]; membrane repolarization during action potential [GO:0086011]; membrane repolarization during ventricular cardiac muscle cell action potential [GO:0098915]; negative regulation of delayed rectifier potassium channel activity [GO:1902260]; negative regulation of membrane repolarization during ventricular cardiac muscle cell action potential [GO:1905025]; negative regulation of potassium ion export across plasma membrane [GO:1903765]; negative regulation of voltage-gated potassium channel activity [GO:1903817]; positive regulation of voltage-gated calcium channel activity [GO:1901387]; potassium ion export [GO:0071435]; regulation of heart rate by cardiac conduction [GO:0086091]; regulation of ventricular cardiac muscle cell membrane repolarization [GO:0060307]; ventricular cardiac muscle cell action potential [GO:0086005]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12954870}; Single-pass type I membrane protein {ECO:0000305}. Cytoplasm {ECO:0000269|PubMed:12954870}. Perikaryon {ECO:0000269|PubMed:12954870}. Cell projection, dendrite {ECO:0000269|PubMed:12954870}. Membrane raft {ECO:0000269|PubMed:20533308}. Note=Colocalizes with KCNB1 at high-density somatodendritic clusters on the surface of hippocampal neurons. {ECO:0000269|PubMed:12954870}.


uniprotID: Q8WWG9
geneSymbol: KCNE4
reactome: R-HSA-5576890;R-HSA-5576893;
length: 221
go: ENSG00000152049;
snps: rs13409084 rs12621643
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
name:
Potassium voltage-gated channel subfamily E member 4 (MinK-related peptide 3) (Minimum potassium ion channel-related peptide 3) (Potassium channel subunit beta MiRP3)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; integral component of membrane [GO:0016021]; ion channel binding [GO:0044325]; potassium channel regulator activity [GO:0015459]; voltage-gated potassium channel activity [GO:0005249]; membrane repolarization during action potential [GO:0086011]; membrane repolarization during ventricular cardiac muscle cell action potential [GO:0098915]; negative regulation of delayed rectifier potassium channel activity [GO:1902260]; potassium ion export [GO:0071435]; regulation of heart rate by cardiac conduction [GO:0086091]; regulation of ventricular cardiac muscle cell membrane repolarization [GO:0060307]; ventricular cardiac muscle cell action potential [GO:0086005]


uniprotID: Q9UIX4
geneSymbol: KCNG1
reactome: R-HSA-1296072;
length: 513
go: ENSG00000026559;
snps: rs17791052
name:
Potassium voltage-gated channel subfamily G member 1 (Voltage-gated potassium channel subunit Kv6.1) (kH2)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; delayed rectifier potassium channel activity [GO:0005251]; potassium channel activity [GO:0005267]; voltage-gated potassium channel activity [GO:0005249]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]; protein homooligomerization [GO:0051260]; regulation of delayed rectifier potassium channel activity [GO:1902259]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UIX4-1; Sequence=Displayed; Name=2; IsoId=Q9UIX4-2; Sequence=VSP_001024, VSP_001025; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19074135}; Multi-pass membrane protein {ECO:0000305}. Note=Colocalizes with KCNB1 at the plasma membrane (PubMed:19074135). {ECO:0000269|PubMed:19074135}.


uniprotID: Q8TDN1
geneSymbol: KCNG4
reactome: R-HSA-1296072;
length: 519
go: ENSG00000168418;
snps: rs35379218 rs11646443 rs17736370 rs4782905 rs7196482 rs35649980
name:
Potassium voltage-gated channel subfamily G member 4 (Voltage-gated potassium channel subunit Kv6.4)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; delayed rectifier potassium channel activity [GO:0005251]; ion channel binding [GO:0044325]; voltage-gated potassium channel activity [GO:0005249]; potassium ion transmembrane transport [GO:0071805]; protein homooligomerization [GO:0051260]; regulation of ion transmembrane transport [GO:0034765]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TDN1-1; Sequence=Displayed; Name=2; IsoId=Q8TDN1-2; Sequence=VSP_001029, VSP_001030; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19074135}; Multi-pass membrane protein {ECO:0000305}. Note=Has to be associated with KCNB1 or possibly another partner to get inserted in the plasma membrane. Colocalizes with KCNB1 at the plasma membrane. Remains intracellular in the absence of KCNB1 (PubMed:19074135). {ECO:0000269|PubMed:19074135}.


uniprotID: O95259
geneSymbol: KCNH1
reactome: R-HSA-1296072;
pdb: 5J7E;
length: 989
go: ENSG00000143473;
snps: rs727502822 rs730882172 rs730882174 rs730882176 rs730882173 rs727502819 rs730882175 rs727502821
name:
Potassium voltage-gated channel subfamily H member 1 (Ether-a-go-go potassium channel 1) (EAG channel 1) (h-eag) (hEAG1) (Voltage-gated potassium channel subunit Kv10.1)

sequence:

opentargets:
axolemma [GO:0030673]; cell junction [GO:0030054]; cell surface [GO:0009986]; dendrite [GO:0030425]; early endosome membrane [GO:0031901]; integral component of plasma membrane [GO:0005887]; integral component of presynaptic membrane [GO:0099056]; intracellular membrane-bounded organelle [GO:0043231]; nuclear inner membrane [GO:0005637]; perikaryon [GO:0043204]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; voltage-gated potassium channel complex [GO:0008076]; 14-3-3 protein binding [GO:0071889]; calmodulin binding [GO:0005516]; delayed rectifier potassium channel activity [GO:0005251]; identical protein binding [GO:0042802]; ion channel binding [GO:0044325]; phosphatidylinositol bisphosphate binding [GO:1902936]; phosphorelay sensor kinase activity [GO:0000155]; protein heterodimerization activity [GO:0046982]; protein kinase binding [GO:0019901]; voltage-gated potassium channel activity [GO:0005249]; cellular response to calcium ion [GO:0071277]; myoblast fusion [GO:0007520]; phosphatidylinositol-mediated signaling [GO:0048015]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]; regulation of cell proliferation [GO:0042127]; regulation of ion transmembrane transport [GO:0034765]; regulation of membrane potential [GO:0042391]; startle response [GO:0001964]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2; Synonyms=hEAGB; IsoId=O95259-1; Sequence=Displayed; Name=1; Synonyms=hEAG; IsoId=O95259-2; Sequence=VSP_000964; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10880439, ECO:0000269|PubMed:11943152, ECO:0000269|PubMed:21559285, ECO:0000269|PubMed:22732247, ECO:0000269|PubMed:22841712, ECO:0000269|PubMed:25556795, ECO:0000269|PubMed:27005320, ECO:0000269|PubMed:27325704, ECO:0000269|PubMed:27618660, ECO:0000269|PubMed:9738473}; Multi-pass membrane protein {ECO:0000269|PubMed:21559285}. Nucleus inner membrane {ECO:0000269|PubMed:21559285}; Multi-pass membrane protein {ECO:0000269|PubMed:21559285}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q63472}. Cell projection, axon {ECO:0000250|UniProtKB:Q63472}. Cell junction, synapse, presynaptic cell membrane {ECO:0000250|UniProtKB:Q63472}. Perikaryon {ECO:0000250|UniProtKB:Q63472}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250|UniProtKB:Q63472}. Early endosome membrane {ECO:0000269|PubMed:22841712}. Note=Perinuclear KCNH1 is located to NPC-free islands.


uniprotID: Q12809
geneSymbol: KCNH2
reactome: R-HSA-1296072;R-HSA-5576890;
pdb: 1BYW;1UJL;2L0W;2L1M;2L4R;2LE7;2N7G;4HP9;4HQA;5VA1;5VA2;5VA3;
length: 1159
go: ENSG00000055118;
name:
Potassium voltage-gated channel subfamily H member 2 (Eag homolog) (Ether-a-go-go-related gene potassium channel 1) (ERG-1) (Eag-related protein 1) (Ether-a-go-go-related protein 1) (H-ERG) (hERG-1) (hERG1) (Voltage-gated potassium channel subunit Kv11.1)

sequence:

opentargets:
cell surface [GO:0009986]; integral component of plasma membrane [GO:0005887]; inward rectifier potassium channel complex [GO:1902937]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; C3HC4-type RING finger domain binding [GO:0055131]; delayed rectifier potassium channel activity [GO:0005251]; identical protein binding [GO:0042802]; inward rectifier potassium channel activity [GO:0005242]; phosphorelay sensor kinase activity [GO:0000155]; protein homodimerization activity [GO:0042803]; scaffold protein binding [GO:0097110]; ubiquitin protein ligase binding [GO:0031625]; voltage-gated potassium channel activity [GO:0005249]; voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization [GO:0086008]; voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization [GO:1902282]; cardiac muscle contraction [GO:0060048]; cellular response to drug [GO:0035690]; membrane depolarization during action potential [GO:0086010]; membrane repolarization [GO:0086009]; membrane repolarization during action potential [GO:0086011]; membrane repolarization during cardiac muscle cell action potential [GO:0086013]; membrane repolarization during ventricular cardiac muscle cell action potential [GO:0098915]; negative regulation of potassium ion export [GO:1902303]; negative regulation of potassium ion transmembrane transport [GO:1901380]; positive regulation of potassium ion transmembrane transport [GO:1901381]; potassium ion export [GO:0071435]; potassium ion export across plasma membrane [GO:0097623]; potassium ion homeostasis [GO:0055075]; potassium ion transmembrane transport [GO:0071805]; regulation of heart rate by cardiac conduction [GO:0086091]; regulation of heart rate by hormone [GO:0003064]; regulation of membrane potential [GO:0042391]; regulation of membrane repolarization [GO:0060306]; regulation of potassium ion transmembrane transport [GO:1901379]; regulation of ventricular cardiac muscle cell membrane repolarization [GO:0060307]; ventricular cardiac muscle cell action potential [GO:0086005]

drug:
DB00346;DB01118;DB00276;DB00637;DB04957;DB01136;DB00477;DB00537;DB00604;DB01211;DB00204;DB00590;DB01142;DB04855;DB00199;DB01218;DB00308;DB00458;DB01110;DB01100;DB00457;DB01182;DB00908;DB06144;DB00489;DB01162;DB00342;DB00679;DB00661;

snps:
rs199472825 rs199473486 rs199472827 rs199472830 rs199472832 rs199472833 rs199472834 rs199473487 rs199472835 rs199472836 rs199472839 rs199473490 rs199472840 rs199473491 rs199472842 rs199472843 rs199472844 rs199472845 rs199472846 rs199472847 rs199473492 rs199472847 rs199473414 rs199473415 rs121912511 rs199473416 rs199473417 rs199473418 rs199473419 rs199473420 rs199473421 rs199473421 rs199473422 rs199473666 rs199473422 rs199472848 rs199473494 rs199472851 rs199472851 rs199472852 rs121912515 rs199472855 rs121912515 rs199472857 rs199472858 rs199472859 rs199472861 rs199473499 rs199472864 rs199472865 rs199472866 rs36210422 rs41308954 rs199472869 rs199473501 rs199472872 rs199472873 rs199472876 rs199472878 rs199472881 rs199472883 rs199472884 rs199472885 rs199473504 rs199472886 rs199472887 rs199473505 rs138776684 rs199473506 rs199472892 rs199472893 rs199473507 rs199472894 rs199472895 rs199472896 rs199472897 rs199472898 rs199472897 rs199472899 rs199472900 rs199472901 rs199473509 rs9770044 rs199472902 rs199473510 rs199472903 rs199473511 rs121912505 rs199472905 rs199472906 rs199472907 rs199472908 rs28928905 rs199472911 rs199472911 rs199472912 rs199472912 rs199472913 rs199472914 rs199473515 rs199472915 rs199472916 rs199473516 rs199472918 rs199472919 rs121912516 rs199472920 rs199472921 rs121912504 rs199472922 rs199472922 rs199472924 rs199473518 rs199472925 rs199472927 rs199473520 rs199472928 rs199472928 rs9333649 rs199473423 rs9333649 rs9333649 rs199473423 rs121912508 rs199473426 rs199473428 rs199473428 rs199473430 rs199473431 rs104894021 rs28928904 rs28928904 rs28928904 rs199472931 rs199472933 rs199472933 rs199472933 rs199472934 rs199472935 rs199472936 rs199472936 rs199473522 rs199472938 rs199472939 rs199472940 rs199472941 rs199472941 rs199472942 rs199472943 rs199473524 rs199472944 rs199472945 rs199472945 rs199472946 rs199472949 rs199473525 rs199472950 rs199472952 rs199472952 rs199472953 rs199473039 rs121912507 rs199472955 rs199472956 rs199472957 rs41307295 rs199472957 rs199473526 rs199472958 rs199473527 rs199472961 rs199472962 rs199472963 rs199472964 rs199472965 rs199472966 rs199472968 rs199473528 rs199472969 rs199472970 rs199473529 rs199472971 rs199472972 rs199472972 rs199472973 rs199472974 rs199472975 rs199472977 rs199472978 rs199472979 rs199472980 rs199472981 rs199472982 rs199472983 rs199472984 rs199473531 rs199473532 rs199472986 rs199473533 rs199472989 rs121912512 rs199472990 rs199472992 rs199472993 rs199472994 rs199472995 rs12720441 rs199473535 rs199472997 rs138498207 rs199472998 rs199472999 rs199472999 rs199473000 rs121912510 rs199473537 rs199473001 rs121912506 rs199473538 rs199473004 rs199473005 rs199473006 rs199473007 rs121912513 rs143512106 rs199473432 rs199473433 rs199473668 rs1805123 rs199473669 rs199473435 rs77331749 rs76420733 rs199473670 rs199473438 rs199473439 rs199473440 rs199473009 rs199473009 rs199473010 rs199473540 rs121912514 rs199473017 rs149955375 rs199473018 rs199473019 rs199473542 rs41313074 rs41307280 rs41307274 rs41307271 rs199473021 rs199473022 rs199473544 rs199473026 rs41307270 rs199473027 rs199473029 rs199473545 rs199473546 rs199473035 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=A; IsoId=Q12809-1; Sequence=Displayed; Name=B; IsoId=Q12809-2; Sequence=VSP_000965; Name=4; IsoId=Q12809-4; Sequence=VSP_000966; Note=No experimental confirmation available.; Name=A-USO; IsoId=Q12809-5; Sequence=VSP_047880, VSP_047881; Note=Twice more abundant than isoform 1 in heart.; Name=B-USO; IsoId=Q12809-6; Sequence=VSP_047878, VSP_047879, VSP_047880, VSP_047881; Name=3.1; IsoId=Q12809-7; Sequence=VSP_047877; Note=Primate-specific. Lacks a domain that is crucial for slow channel deactivation.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18559421, ECO:0000269|PubMed:19412172, ECO:0000269|PubMed:26363003}; Multi-pass membrane protein {ECO:0000269|PubMed:18559421, ECO:0000269|PubMed:19412172}.


uniprotID: Q9ULD8
geneSymbol: KCNH3
reactome: R-HSA-1296072;
length: 1083
go: ENSG00000135519;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Potassium voltage-gated channel subfamily H member 3 (Brain-specific eag-like channel 1) (BEC1) (Ether-a-go-go-like potassium channel 2) (ELK channel 2) (ELK2) (Voltage-gated potassium channel subunit Kv12.2)

sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; phosphorelay sensor kinase activity [GO:0000155]; voltage-gated potassium channel activity [GO:0005249]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]; regulation of ion transmembrane transport [GO:0034765]; regulation of membrane potential [GO:0042391]


uniprotID: Q9UQ05
geneSymbol: KCNH4
reactome: R-HSA-1296072;
length: 1017
go: ENSG00000089558;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Potassium voltage-gated channel subfamily H member 4 (Brain-specific eag-like channel 2) (BEC2) (Ether-a-go-go-like potassium channel 1) (ELK channel 1) (ELK1) (Voltage-gated potassium channel subunit Kv12.3)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; phosphorelay sensor kinase activity [GO:0000155]; voltage-gated potassium channel activity [GO:0005249]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]; regulation of ion transmembrane transport [GO:0034765]; regulation of membrane potential [GO:0042391]


uniprotID: Q8NCM2
geneSymbol: KCNH5
reactome: R-HSA-1296072;
length: 988
go: ENSG00000140015;
snps: rs587777164 rs4902176
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Potassium voltage-gated channel subfamily H member 5 (Ether-a-go-go potassium channel 2) (hEAG2) (Voltage-gated potassium channel subunit Kv10.2)

sequence:

opentargets:
cell surface [GO:0009986]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; calmodulin binding [GO:0005516]; ion channel binding [GO:0044325]; phosphorelay sensor kinase activity [GO:0000155]; protein heterodimerization activity [GO:0046982]; voltage-gated potassium channel activity [GO:0005249]; potassium ion transmembrane transport [GO:0071805]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; regulation of ion transmembrane transport [GO:0034765]; regulation of membrane potential [GO:0042391]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q8NCM2-1; Sequence=Displayed; Name=2; Synonyms=2b; IsoId=Q8NCM2-2; Sequence=VSP_000973, VSP_000974; Name=3; IsoId=Q8NCM2-3; Sequence=VSP_000972, VSP_000975, VSP_000976; 


uniprotID: Q9H252
geneSymbol: KCNH6
reactome: R-HSA-1296072;
length: 994
go: ENSG00000173826;
drug: DB00590;DB00308;DB01110;DB00457;DB01162;
snps: rs35399062 rs35819807
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Potassium voltage-gated channel subfamily H member 6 (Ether-a-go-go-related gene potassium channel 2) (ERG-2) (Eag-related protein 2) (Ether-a-go-go-related protein 2) (hERG-2) (hERG2) (Voltage-gated potassium channel subunit Kv11.2)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; voltage-gated potassium channel activity [GO:0005249]; potassium ion transmembrane transport [GO:0071805]; regulation of ion transmembrane transport [GO:0034765]; regulation of membrane potential [GO:0042391]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q9H252-1; Sequence=Displayed; Name=2; IsoId=Q9H252-2; Sequence=VSP_000977, VSP_000978; Name=3; IsoId=Q9H252-3; Sequence=VSP_000979, VSP_000980; 


uniprotID: Q9NS40
geneSymbol: KCNH7
reactome: R-HSA-1296072;
length: 1196
go: ENSG00000184611;
drug: DB00590;DB00308;DB01110;DB00457;DB01162;
snps: rs6757850
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Potassium voltage-gated channel subfamily H member 7 (Ether-a-go-go-related gene potassium channel 3) (ERG-3) (Eag-related protein 3) (Ether-a-go-go-related protein 3) (hERG-3) (Voltage-gated potassium channel subunit Kv11.3)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; voltage-gated potassium channel activity [GO:0005249]; potassium ion transmembrane transport [GO:0071805]; regulation of ion transmembrane transport [GO:0034765]; regulation of membrane potential [GO:0042391]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NS40-1; Sequence=Displayed; Name=2; IsoId=Q9NS40-2; Sequence=VSP_037116, VSP_037117, VSP_037118; Note=No experimental confirmation available.; 


uniprotID: Q8WZA9
geneSymbol: IRGQ
name: Immunity-related GTPase family Q protein
length: 623
go: ENSG00000167378;
opentargets: GTP binding [GO:0005525]
sequence:


uniprotID: Q9H1K1
geneSymbol: ISCU
reactome: R-HSA-1362409;
pdb: 5KZ5;5WKP;5WLW;
length: 167
go: ENSG00000136003;
snps: rs2287555
name:
Iron-sulfur cluster assembly enzyme ISCU, mitochondrial (NifU-like N-terminal domain-containing protein) (NifU-like protein)

sequence:
MAAAGAFRLRRAASALLLRSPRLPARELSAPARLYHKKVVDHYENPRNVGSLDKTSKNVGTGLVGAPACGDVMKLQIQVDEKGKIVDARFKTFGCGSAIASSSLATEWVKGKTVEEALTIKNTDIAKELCLPPVKLHCSMLAEDAIKAALADYKLKQEPKKGEAEKK

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; 2 iron, 2 sulfur cluster binding [GO:0051537]; 4 iron, 4 sulfur cluster binding [GO:0051539]; ferrous iron binding [GO:0008198]; iron ion binding [GO:0005506]; iron-sulfur transferase activity [GO:0036455]; protein-containing complex scaffold activity [GO:0032947]; cellular iron ion homeostasis [GO:0006879]; iron-sulfur cluster assembly [GO:0016226]; small molecule metabolic process [GO:0044281]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=ISCU2; IsoId=Q9H1K1-1; Sequence=Displayed; Name=2; Synonyms=ISCU1; IsoId=Q9H1K1-2; Sequence=VSP_013492; 

location:
SUBCELLULAR LOCATION: Isoform 1: Mitochondrion {ECO:0000269|PubMed:11060020, ECO:0000269|PubMed:26702583}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Nucleus {ECO:0000269|PubMed:11060020}.


uniprotID: Q12794
geneSymbol: HYAL1
reactome: R-HSA-2024101;R-HSA-2160916;R-HSA-2206280;
pdb: 2PE4;
length: 435
go: ENSG00000114378;
snps: rs104893743
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:9223416}. Lysosome {ECO:0000269|PubMed:9223416}.
name:
Hyaluronidase-1 (Hyal-1) (EC 3.2.1.35) (Hyaluronoglucosaminidase-1) (Lung carcinoma protein 1) (LuCa-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; hyaluranon cable [GO:0036117]; lysosomal lumen [GO:0043202]; lysosome [GO:0005764]; hyaluronan synthase activity [GO:0050501]; hyalurononglucosaminidase activity [GO:0004415]; transcription factor binding [GO:0008134]; carbohydrate metabolic process [GO:0005975]; cartilage development [GO:0051216]; cellular response to fibroblast growth factor stimulus [GO:0044344]; cellular response to interleukin-1 [GO:0071347]; cellular response to pH [GO:0071467]; cellular response to platelet-derived growth factor stimulus [GO:0036120]; cellular response to tumor necrosis factor [GO:0071356]; cellular response to UV-B [GO:0071493]; chondroitin sulfate catabolic process [GO:0030207]; embryonic skeletal joint morphogenesis [GO:0060272]; hyaluronan biosynthetic process [GO:0030213]; hyaluronan catabolic process [GO:0030214]; hyaluronan metabolic process [GO:0030212]; inflammatory response [GO:0006954]; negative regulation of cell growth [GO:0030308]; positive regulation of angiogenesis [GO:0045766]; positive regulation of cell adhesion [GO:0045785]; positive regulation of cell growth [GO:0030307]; positive regulation of epithelial cell migration [GO:0010634]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of G1/S transition of mitotic cell cycle [GO:1900087]; positive regulation of growth [GO:0045927]; positive regulation of hyaluranon cable assembly [GO:1900106]; response to antibiotic [GO:0046677]; response to reactive oxygen species [GO:0000302]; response to virus [GO:0009615]; viral entry into host cell [GO:0046718]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q12794-1; Sequence=Displayed; Name=2; Synonyms=HYAl1v1; IsoId=Q12794-2; Sequence=VSP_015920; Note=Enzymatically inactive.; Name=3; Synonyms=HYAl1v2; IsoId=Q12794-3; Sequence=VSP_015917; Note=Enzymatically inactive.; Name=4; Synonyms=HYAl1v3; IsoId=Q12794-4; Sequence=VSP_015918, VSP_015919; Note=Enzymatically inactive.; Name=5; Synonyms=HYAl1v4; IsoId=Q12794-5; Sequence=VSP_015916; Note=Enzymatically inactive.; Name=6; Synonyms=HYAl1v5; IsoId=Q12794-6; Sequence=VSP_015915; Note=Enzymatically inactive.; Name=7; IsoId=Q12794-7; Sequence=VSP_015921, VSP_015922; Note=No experimental confirmation available.; 


uniprotID: Q96AB3
geneSymbol: ISOC2
name: Isochorismatase domain-containing protein 2
length: 205
go: ENSG00000063241;
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; catalytic activity [GO:0003824]; protein destabilization [GO:0031648]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96AB3-1; Sequence=Displayed; Name=2; IsoId=Q96AB3-2; Sequence=VSP_022000; Name=3; IsoId=Q96AB3-3; Sequence=VSP_038741; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17658461}. Nucleus {ECO:0000269|PubMed:17658461}. Note=Localizes to the nucleus in the presence of CDKN2A.


uniprotID: Q8N109
geneSymbol: KIR2DL5A
name: Killer cell immunoglobulin-like receptor 2DL5A (CD antigen CD158f1)
length: 375
go: ENSG00000274143;
opentargets: integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
sequence:


uniprotID: O75578
geneSymbol: ITGA10
reactome: R-HSA-216083;R-HSA-447041;R-HSA-75892;
name: Integrin alpha-10
length: 1167
go: ENSG00000143127;
snps: rs6665210 rs36073645 rs2274618 rs35515885 rs2274616
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
integrin alpha10-beta1 complex [GO:0034680]; integrin complex [GO:0008305]; plasma membrane [GO:0005886]; collagen binding [GO:0005518]; collagen binding involved in cell-matrix adhesion [GO:0098639]; metal ion binding [GO:0046872]; cell-matrix adhesion [GO:0007160]; extracellular matrix organization [GO:0030198]; integrin-mediated signaling pathway [GO:0007229]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O75578-1; Sequence=Displayed; Name=2; IsoId=O75578-2; Sequence=VSP_013114, VSP_013115; Note=No experimental confirmation available.; Name=3; IsoId=O75578-3; Sequence=VSP_054483; Note=No experimental confirmation available.; 


uniprotID: Q9UKX5
geneSymbol: ITGA11
reactome: R-HSA-216083;
name: Integrin alpha-11
length: 1188
go: ENSG00000137809;
snps: rs2306022 rs2306024 rs7168069 rs2271725 rs4777035
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
focal adhesion [GO:0005925]; integrin alpha11-beta1 complex [GO:0034681]; integrin complex [GO:0008305]; membrane [GO:0016020]; plasma membrane [GO:0005886]; collagen binding [GO:0005518]; collagen binding involved in cell-matrix adhesion [GO:0098639]; collagen receptor activity [GO:0038064]; metal ion binding [GO:0046872]; cell adhesion [GO:0007155]; cell adhesion mediated by integrin [GO:0033627]; cell-matrix adhesion [GO:0007160]; collagen-activated signaling pathway [GO:0038065]; extracellular matrix organization [GO:0030198]; integrin-mediated signaling pathway [GO:0007229]; muscle organ development [GO:0007517]; osteoblast differentiation [GO:0001649]; substrate-dependent cell migration [GO:0006929]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UKX5-1; Sequence=Displayed; Name=2; IsoId=Q9UKX5-2; Sequence=VSP_053416; 


uniprotID: P20702
geneSymbol: ITGAX
reactome: R-HSA-202733;R-HSA-216083;R-HSA-3000178;R-HSA-6785807;R-HSA-6798695;
pdb: 1N3Y;2LUV;3K6S;3K71;3K72;4NEH;4NEN;5ES4;
length: 1163
go: ENSG00000140678;
snps: rs2230424 rs1574566 rs2230428 rs2230429 rs17853815 rs189592567 rs2230427 rs181404376
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Integrin alpha-X (CD11 antigen-like family member C) (Leu M5) (Leukocyte adhesion glycoprotein p150,95 alpha chain) (Leukocyte adhesion receptor p150,95) (CD antigen CD11c)

sequence:

opentargets:
cell surface [GO:0009986]; ficolin-1-rich granule membrane [GO:0101003]; integrin complex [GO:0008305]; membrane [GO:0016020]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; tertiary granule membrane [GO:0070821]; metal ion binding [GO:0046872]; signaling receptor activity [GO:0038023]; animal organ morphogenesis [GO:0009887]; cell adhesion [GO:0007155]; cytokine-mediated signaling pathway [GO:0019221]; extracellular matrix organization [GO:0030198]; heterotypic cell-cell adhesion [GO:0034113]; integrin-mediated signaling pathway [GO:0007229]; leukocyte migration [GO:0050900]; neutrophil degranulation [GO:0043312]


uniprotID: Q86VH2
geneSymbol: KIF27
reactome: R-HSA-6811434;R-HSA-983189;
name: Kinesin-like protein KIF27
length: 1401
go: ENSG00000165115;
snps: rs12001918 rs35594736 rs55654273
sequence:

opentargets:
cilium [GO:0005929]; cytoplasm [GO:0005737]; kinesin complex [GO:0005871]; microtubule [GO:0005874]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; cilium assembly [GO:0060271]; epithelial cilium movement [GO:0003351]; microtubule-based movement [GO:0007018]; ventricular system development [GO:0021591]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=KIF27A; IsoId=Q86VH2-1; Sequence=Displayed; Name=2; Synonyms=KIF27B; IsoId=Q86VH2-2; Sequence=VSP_028603; Name=3; Synonyms=KIF27C; IsoId=Q86VH2-3; Sequence=VSP_028604; Name=4; IsoId=Q86VH2-4; Sequence=VSP_028602, VSP_028605, VSP_028606; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305}. Cell projection, cilium {ECO:0000250}. Note=Localizes to centrioles and basal bodies. {ECO:0000250}.


uniprotID: P08514
geneSymbol: ITGA2B
length: 1039
go: ENSG00000005961;
drug: DB00054;DB04863;DB00775;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
reactome:
R-HSA-114608;R-HSA-216083;R-HSA-3000178;R-HSA-354192;R-HSA-354194;R-HSA-372708;R-HSA-445144;R-HSA-5674135;R-HSA-6802946;R-HSA-6802948;R-HSA-6802949;R-HSA-6802952;R-HSA-6802955;R-HSA-8936459;

pdb:
1DPK;1DPQ;1JX5;1KUP;1KUZ;1M8O;1RN0;1S4W;1TYE;1UV9;2K1A;2K9J;2KNC;2MTP;2N9Y;2VC2;2VDK;2VDL;2VDM;2VDN;2VDO;2VDP;2VDQ;2VDR;3FCS;3FCU;3NID;3NIF;3NIG;3T3M;3T3P;3ZDX;3ZDY;3ZDZ;3ZE0;3ZE1;3ZE2;4CAK;4Z7N;4Z7O;4Z7Q;5HDB;

name:
Integrin alpha-IIb (GPalpha IIb) (GPIIb) (Platelet membrane glycoprotein IIb) (CD antigen CD41) [Cleaved into: Integrin alpha-IIb heavy chain; Integrin alpha-IIb light chain, form 1; Integrin alpha-IIb light chain, form 2]

sequence:

opentargets:
blood microparticle [GO:0072562]; cell surface [GO:0009986]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; integrin complex [GO:0008305]; plasma membrane [GO:0005886]; platelet alpha granule membrane [GO:0031092]; extracellular matrix binding [GO:0050840]; fibrinogen binding [GO:0070051]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; cell-matrix adhesion [GO:0007160]; extracellular matrix organization [GO:0030198]; integrin-mediated signaling pathway [GO:0007229]; platelet aggregation [GO:0070527]; platelet degranulation [GO:0002576]; positive regulation of leukocyte migration [GO:0002687]; regulation of megakaryocyte differentiation [GO:0045652]

snps:
rs5915 rs1052533574 rs137852911 rs137852907 rs1126554 rs137852910 rs137852908 rs766006685 rs75622274 rs780786843 rs76811038 rs7207402 rs77961246 rs761174160 rs763762304 rs74475415 rs5911 rs77458039 rs80002943 rs5914 rs78657866 rs78165611 rs879255514 rs766503255 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P08514-1; Sequence=Displayed; Name=2; IsoId=P08514-2; Sequence=VSP_002737; Name=3; Synonyms=tr-alpha-IIb {ECO:0000303|PubMed:9809974}; IsoId=P08514-3; Sequence=VSP_002736; 


uniprotID: P17301
geneSymbol: ITGA2
reactome: R-HSA-216083;R-HSA-3000157;R-HSA-3000170;R-HSA-3000178;R-HSA-447041;R-HSA-75892;R-HSA-8874081;
pdb: 1AOX;1DZI;1PQB;1V7P;4BJ3;5HJ2;5THP;
length: 1181
snps: rs1801106 rs3212557 rs2287870 rs3212645
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Integrin alpha-2 (CD49 antigen-like family member B) (Collagen receptor) (Platelet membrane glycoprotein Ia) (GPIa) (VLA-2 subunit alpha) (CD antigen CD49b)

sequence:

opentargets:
axon terminus [GO:0043679]; basal part of cell [GO:0045178]; cell surface [GO:0009986]; external side of plasma membrane [GO:0009897]; focal adhesion [GO:0005925]; integrin alpha2-beta1 complex [GO:0034666]; integrin complex [GO:0008305]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; amyloid-beta binding [GO:0001540]; collagen binding [GO:0005518]; collagen binding involved in cell-matrix adhesion [GO:0098639]; collagen receptor activity [GO:0038064]; heparan sulfate proteoglycan binding [GO:0043395]; integrin binding [GO:0005178]; laminin binding [GO:0043236]; metal ion binding [GO:0046872]; protein heterodimerization activity [GO:0046982]; protein-containing complex binding [GO:0044877]; virus receptor activity [GO:0001618]; animal organ morphogenesis [GO:0009887]; blood coagulation [GO:0007596]; cell adhesion [GO:0007155]; cell adhesion mediated by integrin [GO:0033627]; cell proliferation [GO:0008283]; cell-matrix adhesion [GO:0007160]; cell-substrate adhesion [GO:0031589]; cellular response to estradiol stimulus [GO:0071392]; cellular response to mechanical stimulus [GO:0071260]; collagen-activated signaling pathway [GO:0038065]; detection of mechanical stimulus involved in sensory perception of pain [GO:0050966]; establishment of protein localization [GO:0045184]; extracellular matrix organization [GO:0030198]; female pregnancy [GO:0007565]; focal adhesion assembly [GO:0048041]; hepatocyte differentiation [GO:0070365]; hypotonic response [GO:0006971]; integrin-mediated signaling pathway [GO:0007229]; mammary gland development [GO:0030879]; mesodermal cell differentiation [GO:0048333]; positive regulation of alkaline phosphatase activity [GO:0010694]; positive regulation of cell adhesion [GO:0045785]; positive regulation of cell projection organization [GO:0031346]; positive regulation of collagen binding [GO:0033343]; positive regulation of collagen biosynthetic process [GO:0032967]; positive regulation of DNA binding [GO:0043388]; positive regulation of epithelial cell migration [GO:0010634]; positive regulation of inflammatory response [GO:0050729]; positive regulation of leukocyte migration [GO:0002687]; positive regulation of phagocytosis, engulfment [GO:0060100]; positive regulation of positive chemotaxis [GO:0050927]; positive regulation of smooth muscle cell migration [GO:0014911]; positive regulation of smooth muscle cell proliferation [GO:0048661]; positive regulation of smooth muscle contraction [GO:0045987]; positive regulation of translation [GO:0045727]; positive regulation of transmission of nerve impulse [GO:0051971]; response to amine [GO:0014075]; response to drug [GO:0042493]; response to hypoxia [GO:0001666]; response to L-ascorbic acid [GO:0033591]; response to muscle activity [GO:0014850]; response to parathyroid hormone [GO:0071107]; skin morphogenesis [GO:0043589]; substrate-dependent cell migration [GO:0006929]


uniprotID: Q14571
geneSymbol: ITPR2
length: 2701
go: ENSG00000123104;
drug: DB00201;
snps: rs2230384 rs2230373 rs2230382 rs786204832
location: SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.
reactome:
R-HSA-112043;R-HSA-114508;R-HSA-139853;R-HSA-1489509;R-HSA-2029485;R-HSA-2871809;R-HSA-381676;R-HSA-4086398;R-HSA-422356;R-HSA-5218921;R-HSA-5578775;R-HSA-5607763;R-HSA-983695;

name:
Inositol 1,4,5-trisphosphate receptor type 2 (IP3 receptor isoform 2) (IP3R 2) (InsP3R2) (Type 2 inositol 1,4,5-trisphosphate receptor) (Type 2 InsP3 receptor)

sequence:

opentargets:
cell cortex [GO:0005938]; cytoplasmic vesicle membrane [GO:0030659]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; platelet dense tubular network membrane [GO:0031095]; receptor complex [GO:0043235]; sarcoplasmic reticulum [GO:0016529]; sarcoplasmic reticulum membrane [GO:0033017]; secretory granule membrane [GO:0030667]; calcium ion binding [GO:0005509]; calcium ion transmembrane transporter activity [GO:0015085]; inositol 1,4,5 trisphosphate binding [GO:0070679]; inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity [GO:0005220]; phosphatidylinositol binding [GO:0035091]; scaffold protein binding [GO:0097110]; cellular response to cAMP [GO:0071320]; cellular response to ethanol [GO:0071361]; platelet activation [GO:0030168]; regulation of cardiac conduction [GO:1903779]; regulation of insulin secretion [GO:0050796]; release of sequestered calcium ion into cytosol [GO:0051209]; response to hypoxia [GO:0001666]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=Q14571-1; Sequence=Displayed; Name=Short; Synonyms=TIPR; IsoId=Q14571-2; Sequence=VSP_002699, VSP_002700; 


uniprotID: Q14573
geneSymbol: ITPR3
pdb: 6DQJ;6DQN;6DQS;6DQV;6DQZ;6DR0;6DR2;6DRA;6DRC;
length: 2671
go: ENSG00000096433;
drug: DB00201;
snps: rs2229646 rs11963294 rs2229633 rs2296333 rs9461899 rs12528378 rs2229641 rs2229642
location: SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.
reactome:
R-HSA-112043;R-HSA-114508;R-HSA-139853;R-HSA-1489509;R-HSA-2029485;R-HSA-2871809;R-HSA-381676;R-HSA-4086398;R-HSA-422356;R-HSA-5218921;R-HSA-5578775;R-HSA-5607763;R-HSA-983695;

name:
Inositol 1,4,5-trisphosphate receptor type 3 (IP3 receptor isoform 3) (IP3R 3) (InsP3R3) (Type 3 inositol 1,4,5-trisphosphate receptor) (Type 3 InsP3 receptor)

sequence:

opentargets:
apical part of cell [GO:0045177]; brush border [GO:0005903]; cytoplasm [GO:0005737]; cytoplasmic vesicle membrane [GO:0030659]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; myelin sheath [GO:0043209]; neuronal cell body [GO:0043025]; nuclear outer membrane [GO:0005640]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; platelet dense tubular network membrane [GO:0031095]; receptor complex [GO:0043235]; sarcoplasmic reticulum [GO:0016529]; secretory granule membrane [GO:0030667]; calcium ion binding [GO:0005509]; calcium-release channel activity [GO:0015278]; inositol 1,3,4,5 tetrakisphosphate binding [GO:0043533]; inositol 1,4,5 trisphosphate binding [GO:0070679]; inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity [GO:0005220]; inositol hexakisphosphate binding [GO:0000822]; phosphatidylinositol binding [GO:0035091]; calcium ion transport into cytosol [GO:0060402]; G protein-coupled receptor signaling pathway [GO:0007186]; long-term synaptic potentiation [GO:0060291]; memory [GO:0007613]; platelet activation [GO:0030168]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; protein heterooligomerization [GO:0051291]; protein homooligomerization [GO:0051260]; regulation of cardiac conduction [GO:1903779]; regulation of insulin secretion [GO:0050796]; release of sequestered calcium ion into cytosol [GO:0051209]; response to calcium ion [GO:0051592]; sensory perception of bitter taste [GO:0050913]; sensory perception of sweet taste [GO:0050916]; sensory perception of umami taste [GO:0050917]


uniprotID: Q9Y496
geneSymbol: KIF3A
reactome: R-HSA-1445148;R-HSA-2132295;R-HSA-5610787;R-HSA-5620924;R-HSA-5635838;R-HSA-6811434;R-HSA-983189;
name: Kinesin-like protein KIF3A (Microtubule plus end-directed kinesin motor 3A)
length: 699
go: ENSG00000131437;
snps: rs17854353
sequence:

opentargets:
axon cytoplasm [GO:1904115]; centriole [GO:0005814]; centrosome [GO:0005813]; ciliary tip [GO:0097542]; cilium [GO:0005929]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; kinesin complex [GO:0005871]; kinesin II complex [GO:0016939]; microtubule [GO:0005874]; microtubule cytoskeleton [GO:0015630]; ATP binding [GO:0005524]; ATP-dependent microtubule motor activity, plus-end-directed [GO:0008574]; ATPase activity [GO:0016887]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; protein phosphatase binding [GO:0019903]; Rab GTPase binding [GO:0017137]; spectrin binding [GO:0030507]; anterograde axonal transport [GO:0008089]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; axon guidance [GO:0007411]; centriole-centriole cohesion [GO:0010457]; cilium assembly [GO:0060271]; intraciliary transport involved in cilium assembly [GO:0035735]; microtubule anchoring at centrosome [GO:0034454]; microtubule-based movement [GO:0007018]; organelle organization [GO:0006996]; plus-end-directed vesicle transport along microtubule [GO:0072383]; protein localization to cell junction [GO:1902414]; protein transport [GO:0015031]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305}. Cell projection, cilium {ECO:0000250|UniProtKB:P28741}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:23386061}. Note=Localizes to the subdistal appendage region of the centriole. {ECO:0000269|PubMed:23386061}.


uniprotID: P05107
geneSymbol: ITGB2
reactome: R-HSA-166016;R-HSA-198933;R-HSA-202733;R-HSA-216083;R-HSA-6785807;R-HSA-6798695;
length: 769
drug: DB00641;
pdb:
1JX3;1L3Y;1YUK;2JF1;2P26;2P28;2V7D;3K6S;3K71;3K72;4NEH;4NEN;5E6R;5E6S;5E6U;5E6V;5E6W;5E6X;5ES4;5XR1;

name:
Integrin beta-2 (Cell surface adhesion glycoproteins LFA-1/CR3/p150,95 subunit beta) (Complement receptor C3 subunit beta) (CD antigen CD18)

sequence:

opentargets:
cell surface [GO:0009986]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular vesicle [GO:1903561]; ficolin-1-rich granule membrane [GO:0101003]; focal adhesion [GO:0005925]; integrin alphaL-beta2 complex [GO:0034687]; integrin alphaM-beta2 complex [GO:0034688]; integrin complex [GO:0008305]; membrane [GO:0016020]; plasma membrane [GO:0005886]; plasma membrane raft [GO:0044853]; receptor complex [GO:0043235]; specific granule membrane [GO:0035579]; tertiary granule membrane [GO:0070821]; amyloid-beta binding [GO:0001540]; cell adhesion molecule binding [GO:0050839]; complement component C3b binding [GO:0001851]; heat shock protein binding [GO:0031072]; ICAM-3 receptor activity [GO:0030369]; integrin binding [GO:0005178]; metal ion binding [GO:0046872]; protein heterodimerization activity [GO:0046982]; protein kinase binding [GO:0019901]; aging [GO:0007568]; amyloid-beta clearance [GO:0097242]; apoptotic process [GO:0006915]; cell adhesion [GO:0007155]; cell adhesion mediated by integrin [GO:0033627]; cell migration [GO:0016477]; cell-cell adhesion [GO:0098609]; cell-cell adhesion via plasma-membrane adhesion molecules [GO:0098742]; cell-cell signaling [GO:0007267]; cell-matrix adhesion [GO:0007160]; cellular extravasation [GO:0045123]; cellular response to low-density lipoprotein particle stimulus [GO:0071404]; cytokine-mediated signaling pathway [GO:0019221]; endodermal cell differentiation [GO:0035987]; endothelial cell migration [GO:0043542]; extracellular matrix organization [GO:0030198]; heterotypic cell-cell adhesion [GO:0034113]; inflammatory response [GO:0006954]; integrin-mediated signaling pathway [GO:0007229]; leukocyte cell-cell adhesion [GO:0007159]; leukocyte migration [GO:0050900]; leukocyte migration involved in inflammatory response [GO:0002523]; microglial cell activation [GO:0001774]; natural killer cell activation [GO:0030101]; negative regulation of dopamine metabolic process [GO:0045963]; neutrophil chemotaxis [GO:0030593]; neutrophil degranulation [GO:0043312]; neutrophil migration [GO:1990266]; phagocytosis, engulfment [GO:0006911]; positive regulation of angiogenesis [GO:0045766]; positive regulation of microglial cell activation [GO:1903980]; positive regulation of neuron death [GO:1901216]; positive regulation of neutrophil degranulation [GO:0043315]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of nitric oxide biosynthetic process [GO:0045429]; positive regulation of prostaglandin-E synthase activity [GO:2000363]; positive regulation of protein targeting to membrane [GO:0090314]; positive regulation of superoxide anion generation [GO:0032930]; receptor clustering [GO:0043113]; receptor internalization [GO:0031623]; regulation of cell shape [GO:0008360]; regulation of immune response [GO:0050776]; regulation of peptidyl-tyrosine phosphorylation [GO:0050730]; toll-like receptor 4 signaling pathway [GO:0034142]

snps:
rs137852615 rs137852615 rs137852617 rs137852611 rs137852612 rs137852614 rs137852610 rs179363873 rs137852618 rs137852616 rs179363874 rs137852613 rs235330 rs5030672 rs137852609 rs179363872 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21193407, ECO:0000269|PubMed:28807980}; Single-pass type I membrane protein {ECO:0000305}. Membrane raft {ECO:0000269|PubMed:21193407}; Single-pass type I membrane protein {ECO:0000305}.


uniprotID: Q13572
geneSymbol: ITPK1
reactome: R-HSA-1855167;R-HSA-1855204;R-HSA-983231;
pdb: 2ODT;2Q7D;2QB5;
length: 414
go: ENSG00000100605;
name:
Inositol-tetrakisphosphate 1-kinase (EC 2.7.1.134) (Inositol 1,3,4-trisphosphate 5/6-kinase) (Inositol-triphosphate 5/6-kinase) (Ins(1,3,4)P(3) 5/6-kinase) (EC 2.7.1.159)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; ATP binding [GO:0005524]; catalytic activity [GO:0003824]; inositol tetrakisphosphate 1-kinase activity [GO:0047325]; inositol tetrakisphosphate 6-kinase activity [GO:0000825]; inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity [GO:0052825]; inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity [GO:0052659]; inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity [GO:0052831]; inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity [GO:0052830]; inositol-1,3,4-trisphosphate 5-kinase activity [GO:0052726]; inositol-1,3,4-trisphosphate 6-kinase activity [GO:0052725]; inositol-3,4,6-trisphosphate 1-kinase activity [GO:0052835]; isomerase activity [GO:0016853]; magnesium ion binding [GO:0000287]; blood coagulation [GO:0007596]; inositol phosphate metabolic process [GO:0043647]; inositol phosphorylation [GO:0052746]; inositol trisphosphate metabolic process [GO:0032957]; necroptotic process [GO:0070266]; neural tube development [GO:0021915]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13572-1; Sequence=Displayed; Name=2; IsoId=Q13572-2; Sequence=VSP_016478, VSP_016479; Note=No experimental confirmation available.; 


uniprotID: Q86UX2
geneSymbol: ITIH5
length: 942
snps: rs12761771 rs36056263 rs36056263 rs35892621 rs2275069 rs34213756 rs10795551
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
name:
Inter-alpha-trypsin inhibitor heavy chain H5 (ITI heavy chain H5) (ITI-HC5) (Inter-alpha-inhibitor heavy chain 5)

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; serine-type endopeptidase inhibitor activity [GO:0004867]; hyaluronan metabolic process [GO:0030212]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q86UX2-1; Sequence=Displayed; Name=2; IsoId=Q86UX2-2; Sequence=VSP_033190, VSP_033191; Name=3; IsoId=Q86UX2-3; Sequence=VSP_033188, VSP_033189; Name=4; IsoId=Q86UX2-4; Sequence=VSP_035727, VSP_035728, VSP_035729, VSP_035730; Note=No experimental confirmation available.; 


uniprotID: Q96ST2
geneSymbol: IWS1
reactome: R-HSA-112382;R-HSA-674695;R-HSA-75955;
pdb: 6EMR;
name: Protein IWS1 homolog (IWS1-like protein)
length: 819
go: ENSG00000163166;
snps: rs34377117 rs34785867
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; mRNA processing [GO:0006397]; mRNA transport [GO:0051028]; regulation of histone H3-K36 trimethylation [GO:2001253]; regulation of histone H4 acetylation [GO:0090239]; regulation of mRNA export from nucleus [GO:0010793]; regulation of mRNA processing [GO:0050684]; RNA splicing [GO:0008380]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase II promoter [GO:0006368]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96ST2-1; Sequence=Displayed; Name=2; IsoId=Q96ST2-2; Sequence=VSP_016992; Note=No experimental confirmation available.; Name=3; IsoId=Q96ST2-3; Sequence=VSP_016993; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00649, ECO:0000269|PubMed:17184735, ECO:0000269|PubMed:17234882}.


uniprotID: Q8WWU7
geneSymbol: ITLN2
name: Intelectin-2 (Endothelial lectin HL-2)
length: 325
go: ENSG00000158764;
snps: rs6680969 rs12090411
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular region [GO:0005576]; carbohydrate binding [GO:0030246]; metal ion binding [GO:0046872]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WWU7-1; Sequence=Displayed; Name=2; IsoId=Q8WWU7-2; Sequence=VSP_055093; Note=No experimental confirmation available.; 


uniprotID: Q14643
geneSymbol: ITPR1
length: 2758
go: ENSG00000150995;
drug: DB00201;DB04077;
snps: rs397514536 rs35789999 rs3749383 rs397514535 rs752281590 rs878853176
reactome:
R-HSA-112043;R-HSA-114508;R-HSA-139853;R-HSA-1489509;R-HSA-2029485;R-HSA-2871809;R-HSA-381676;R-HSA-4086398;R-HSA-418457;R-HSA-422356;R-HSA-5218921;R-HSA-5578775;R-HSA-5607763;R-HSA-983695;

name:
Inositol 1,4,5-trisphosphate receptor type 1 (IP3 receptor isoform 1) (IP3R 1) (InsP3R1) (Type 1 inositol 1,4,5-trisphosphate receptor) (Type 1 InsP3 receptor)

sequence:

opentargets:
calcineurin complex [GO:0005955]; cytoplasmic vesicle membrane [GO:0030659]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; nuclear inner membrane [GO:0005637]; nucleolus [GO:0005730]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; platelet dense granule membrane [GO:0031088]; platelet dense tubular network [GO:0031094]; platelet dense tubular network membrane [GO:0031095]; postsynaptic density [GO:0014069]; sarcoplasmic reticulum [GO:0016529]; Schaffer collateral - CA1 synapse [GO:0098685]; secretory granule membrane [GO:0030667]; transport vesicle membrane [GO:0030658]; calcium channel inhibitor activity [GO:0019855]; calcium ion binding [GO:0005509]; calcium ion transmembrane transporter activity [GO:0015085]; calcium-release channel activity [GO:0015278]; inositol 1,4,5 trisphosphate binding [GO:0070679]; inositol 1,4,5-trisphosphate receptor activity involved in regulation of postsynaptic cytosolic calcium levels [GO:0098695]; inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity [GO:0005220]; phosphatidylinositol binding [GO:0035091]; calcium ion transport [GO:0006816]; endoplasmic reticulum calcium ion homeostasis [GO:0032469]; epithelial fluid transport [GO:0042045]; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress [GO:0070059]; negative regulation of calcium-mediated signaling [GO:0050849]; platelet activation [GO:0030168]; post-embryonic development [GO:0009791]; regulation of autophagy [GO:0010506]; regulation of cardiac conduction [GO:1903779]; regulation of insulin secretion [GO:0050796]; release of sequestered calcium ion into cytosol [GO:0051209]; response to hypoxia [GO:0001666]; signal transduction [GO:0007165]; voluntary musculoskeletal movement [GO:0050882]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Comment=There is a combination of three alternatively spliced domains at site SI, SIII and site SII (A and C). Experimental confirmation may be lacking for some isoforms.; Name=1; Synonyms=SISIIISIIAC; IsoId=Q14643-1; Sequence=Displayed; Name=2; Synonyms=SI-SIIISIIAC; IsoId=Q14643-2; Sequence=VSP_002687; Name=3; Synonyms=SISIII-SII; IsoId=Q14643-3; Sequence=VSP_002688, VSP_002689, VSP_002690; Name=4; Synonyms=SI-SIII-SII; IsoId=Q14643-4; Sequence=VSP_002687, VSP_002688, VSP_002689, VSP_002690; Name=5; Synonyms=SI-SIII-SIIAC; IsoId=Q14643-5; Sequence=VSP_002687, VSP_002688; Name=6; Synonyms=SISIIISIIA; IsoId=Q14643-6; Sequence=VSP_002690; Name=7; Synonyms=SI-SIII-SIIA; IsoId=Q14643-7; Sequence=VSP_002687, VSP_002690; Name=8; Synonyms=SI-SIII-SIIA; IsoId=Q14643-8; Sequence=VSP_002687, VSP_002688, VSP_002690; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000305|PubMed:27108798}; Multi-pass membrane protein {ECO:0000255}. Cytoplasmic vesicle, secretory vesicle membrane {ECO:0000250|UniProtKB:Q9TU34}; Multi-pass membrane protein {ECO:0000255}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:27108798}. Note=Endoplasmic reticulum and secretory granules (By similarity). {ECO:0000250|UniProtKB:Q9TU34}.


uniprotID: Q9NQC1
geneSymbol: JADE2
reactome: R-HSA-3214847;
length: 790
go: ENSG00000043143;
snps: rs34200923
name:
E3 ubiquitin-protein ligase Jade-2 (EC 2.3.2.27) (Jade family PHD finger protein 2) (PHD finger protein 15)

sequence:

opentargets:
extracellular exosome [GO:0070062]; histone acetyltransferase complex [GO:0000123]; nucleoplasm [GO:0005654]; metal ion binding [GO:0046872]; transferase activity [GO:0016740]; histone H3 acetylation [GO:0043966]; histone H4-K12 acetylation [GO:0043983]; histone H4-K5 acetylation [GO:0043981]; histone H4-K8 acetylation [GO:0043982]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NQC1-1; Sequence=Displayed; Name=2; IsoId=Q9NQC1-2; Sequence=VSP_021051; Name=3; IsoId=Q9NQC1-3; Sequence=VSP_021050; Note=No experimental confirmation available.; 


uniprotID: Q99081
geneSymbol: TCF12
reactome: R-HSA-375170;R-HSA-8939236;
pdb: 2KNH;4JOL;
length: 682
go: ENSG00000140262;
snps: rs12442879 rs36060670 rs886037641
location: SUBCELLULAR LOCATION: Nucleus.
name:
Transcription factor 12 (TCF-12) (Class B basic helix-loop-helix protein 20) (bHLHb20) (DNA-binding protein HTF4) (E-box-binding protein) (Transcription factor HTF-4)

sequence:

opentargets:
cytoplasm [GO:0005737]; intracellular membrane-bounded organelle [GO:0043231]; nuclear chromatin [GO:0000790]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase II transcription factor complex [GO:0090575]; transcription factor complex [GO:0005667]; bHLH transcription factor binding [GO:0043425]; cAMP response element binding [GO:0035497]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; E-box binding [GO:0070888]; enhancer binding [GO:0035326]; HMG box domain binding [GO:0071837]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; SMAD binding [GO:0046332]; transcription factor binding [GO:0008134]; immune response [GO:0006955]; muscle organ development [GO:0007517]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of hematopoietic stem cell differentiation [GO:1902036]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=a; IsoId=Q99081-1; Sequence=Displayed; Name=2; Synonyms=b; IsoId=Q99081-2; Sequence=VSP_039109, VSP_039110; Name=3; Synonyms=c; IsoId=Q99081-3; Sequence=VSP_040024; Name=4; IsoId=Q99081-4; Sequence=VSP_057419, VSP_057420; Note=No experimental confirmation available.; 


uniprotID: P35568
geneSymbol: IRS1
pdb: 1IRS;1K3A;1QQG;2Z8C;5U1M;
name: Insulin receptor substrate 1 (IRS-1)
length: 1242
go: ENSG00000169047;
drug: DB08513;
snps: rs1801108 rs1801118 rs1801276 rs104893642 rs1801120 rs1801277 rs1801278 rs3731594
reactome:
R-HSA-109704;R-HSA-112399;R-HSA-112412;R-HSA-1257604;R-HSA-1266695;R-HSA-198203;R-HSA-2219530;R-HSA-2428928;R-HSA-2586552;R-HSA-5673001;R-HSA-6811558;R-HSA-74713;R-HSA-74749;R-HSA-9603381;R-HSA-982772;

sequence:

opentargets:
caveola [GO:0005901]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; insulin receptor complex [GO:0005899]; intracellular membrane-bounded organelle [GO:0043231]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; insulin receptor binding [GO:0005158]; insulin-like growth factor receptor binding [GO:0005159]; phosphatidylinositol 3-kinase binding [GO:0043548]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; phosphotyrosine residue binding [GO:0001784]; protein kinase C binding [GO:0005080]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; SH2 domain binding [GO:0042169]; SH3/SH2 adaptor activity [GO:0005070]; transmembrane receptor protein tyrosine kinase adaptor activity [GO:0005068]; cellular response to insulin stimulus [GO:0032869]; glucose homeostasis [GO:0042593]; insulin receptor signaling pathway [GO:0008286]; insulin-like growth factor receptor signaling pathway [GO:0048009]; interleukin-7-mediated signaling pathway [GO:0038111]; MAPK cascade [GO:0000165]; negative regulation of insulin receptor signaling pathway [GO:0046627]; negative regulation of insulin secretion [GO:0046676]; phosphatidylinositol 3-kinase signaling [GO:0014065]; phosphatidylinositol-mediated signaling [GO:0048015]; positive regulation of cell proliferation [GO:0008284]; positive regulation of fatty acid beta-oxidation [GO:0032000]; positive regulation of glucose import [GO:0046326]; positive regulation of glucose metabolic process [GO:0010907]; positive regulation of glycogen biosynthetic process [GO:0045725]; positive regulation of insulin receptor signaling pathway [GO:0046628]; positive regulation of phosphatidylinositol 3-kinase activity [GO:0043552]; positive regulation of protein kinase B signaling [GO:0051897]; response to insulin [GO:0032868]; response to peptide hormone [GO:0043434]; signal transduction [GO:0007165]


uniprotID: Q9Y4H2
geneSymbol: IRS2
pdb: 3FQW;3FQX;
name: Insulin receptor substrate 2 (IRS-2)
length: 1338
go: ENSG00000185950;
snps: rs35223808 rs549588978 rs201499247 rs35927012 rs1805097
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250}.
reactome:
R-HSA-109704;R-HSA-112399;R-HSA-112412;R-HSA-1257604;R-HSA-1266695;R-HSA-198203;R-HSA-2219530;R-HSA-2428928;R-HSA-2586552;R-HSA-5673001;R-HSA-6811558;R-HSA-74713;R-HSA-74749;R-HSA-8853659;R-HSA-982772;

sequence:

opentargets:
cytosol [GO:0005829]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; 14-3-3 protein binding [GO:0071889]; insulin receptor binding [GO:0005158]; phosphatidylinositol 3-kinase binding [GO:0043548]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein domain specific binding [GO:0019904]; protein kinase binding [GO:0019901]; protein phosphatase binding [GO:0019903]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; axon guidance [GO:0007411]; brain development [GO:0007420]; cell proliferation [GO:0008283]; cellular response to glucose stimulus [GO:0071333]; cellular response to insulin stimulus [GO:0032869]; glucose metabolic process [GO:0006006]; insulin receptor signaling pathway [GO:0008286]; interleukin-7-mediated signaling pathway [GO:0038111]; lipid homeostasis [GO:0055088]; mammary gland development [GO:0030879]; MAPK cascade [GO:0000165]; negative regulation of B cell apoptotic process [GO:0002903]; negative regulation of kinase activity [GO:0033673]; negative regulation of plasma membrane long-chain fatty acid transport [GO:0010748]; phosphatidylinositol-mediated signaling [GO:0048015]; positive regulation of B cell proliferation [GO:0030890]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of fatty acid beta-oxidation [GO:0032000]; positive regulation of glucose import [GO:0046326]; positive regulation of glucose metabolic process [GO:0010907]; positive regulation of glycogen biosynthetic process [GO:0045725]; positive regulation of insulin secretion [GO:0032024]; positive regulation of mesenchymal cell proliferation [GO:0002053]; positive regulation of protein kinase B signaling [GO:0051897]; regulation of lipid metabolic process [GO:0019216]; response to glucose [GO:0009749]; signal transduction [GO:0007165]


uniprotID: P32754
geneSymbol: HPD
reactome: R-HSA-71182;
pdb: 3ISQ;5EC3;
length: 393
go: ENSG00000158104;
drug: DB02850;DB00348;
snps: rs1154510 rs11833399 rs137852865 rs36023382
name:
4-hydroxyphenylpyruvate dioxygenase (EC 1.13.11.27) (4-hydroxyphenylpyruvic acid oxidase) (4HPPD) (HPD) (HPPDase)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; Golgi membrane [GO:0000139]; 4-hydroxyphenylpyruvate dioxygenase activity [GO:0003868]; metal ion binding [GO:0046872]; L-phenylalanine catabolic process [GO:0006559]; tyrosine catabolic process [GO:0006572]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P32754-1; Sequence=Displayed; Name=2; IsoId=P32754-2; Sequence=VSP_044302; 


uniprotID: Q969F9
geneSymbol: HPS3
name: Hermansky-Pudlak syndrome 3 protein
length: 1004
go: ENSG00000163755;
snps: rs34388030 rs747708121 rs121908316
sequence:

opentargets:
BLOC-2 complex [GO:0031084]; cytoplasm [GO:0005737]; organelle organization [GO:0006996]; pigmentation [GO:0043473]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q969F9-1; Sequence=Displayed; Name=2; IsoId=Q969F9-2; Sequence=VSP_003878, VSP_003879; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q91VB4}. Cytoplasm, cytosol {ECO:0000269|PubMed:15030569}.


uniprotID: Q6P1K1
geneSymbol: SLC48A1
length: 146
go: ENSG00000211584;
name:
Heme transporter HRG1 (Heme-responsive gene 1 protein homolog) (HRG-1) (hHRG-1) (Solute carrier family 48 member 1)

sequence:
MAPSRLQLGLRAAYSGISSVAGFSIFLVWTVVYRQPGTAAMGGLAGVLALWVLVTHVMYMQDYWRTWLKGLRGFFFVGVLFSAVSIAAFCTFLVLAITRHQSLTDPTSYYLSSVWSFISFKWAFLLSLYAHRYRADFADISILSDF

opentargets:
endosome membrane [GO:0010008]; integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]; plasma membrane [GO:0005886]; heme binding [GO:0020037]; heme transporter activity [GO:0015232]; heme transport [GO:0015886]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6P1K1-1; Sequence=Displayed; Name=2; IsoId=Q6P1K1-2; Sequence=VSP_035184; 

location:
SUBCELLULAR LOCATION: Endosome membrane {ECO:0000269|PubMed:18418376}; Multi-pass membrane protein {ECO:0000269|PubMed:18418376}. Lysosome membrane {ECO:0000269|PubMed:18418376}; Multi-pass membrane protein {ECO:0000269|PubMed:18418376}.


uniprotID: Q92743
geneSymbol: HTRA1
reactome: R-HSA-1474228;
pdb: 2JOA;2YTW;3NUM;3NWU;3NZI;3TJN;3TJO;3TJQ;
length: 480
go: ENSG00000166033;
snps: rs369149111 rs864622781 rs781563777 rs113993968 rs864622782 rs113993969 rs772225907
name:
Serine protease HTRA1 (EC 3.4.21.-) (High-temperature requirement A serine peptidase 1) (L56) (Serine protease 11)

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; insulin-like growth factor binding [GO:0005520]; serine-type endopeptidase activity [GO:0004252]; serine-type peptidase activity [GO:0008236]; chorionic trophoblast cell differentiation [GO:0060718]; dentinogenesis [GO:0097187]; extracellular matrix disassembly [GO:0022617]; negative regulation of BMP signaling pathway [GO:0030514]; negative regulation of defense response to virus [GO:0050687]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; placenta development [GO:0001890]; positive regulation of epithelial cell proliferation [GO:0050679]; proteolysis [GO:0006508]; regulation of cell growth [GO:0001558]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21297635}. Secreted {ECO:0000269|PubMed:15208355, ECO:0000269|PubMed:9852107}. Cytoplasm, cytosol {ECO:0000269|PubMed:15208355, ECO:0000269|PubMed:20671064}. Note=Predominantly secreted (PubMed:15208355). Also found associated with the plasma membrane (PubMed:21297635). {ECO:0000269|PubMed:15208355, ECO:0000269|PubMed:21297635}.


uniprotID: Q96CN7
geneSymbol: ISOC1
name: Isochorismatase domain-containing protein 1
length: 298
go: ENSG00000066583;
opentargets: cytoplasm [GO:0005737]; peroxisome [GO:0005777]; catalytic activity [GO:0003824]
sequence:


uniprotID: Q9H7L2
geneSymbol: KIR3DX1
length: 352
opentargets: extracellular region [GO:0005576]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Putative killer cell immunoglobulin-like receptor-like protein KIR3DX1 (Leukocyte receptor cluster member 12)

sequence:


uniprotID: Q9Y287
geneSymbol: ITM2B
reactome: R-HSA-977225;
length: 266
go: ENSG00000136156;
snps: rs11556905 rs606231283
name:
Integral membrane protein 2B (Immature BRI2) (imBRI2) (Protein E25B) (Transmembrane protein BRI) (Bri) [Cleaved into: BRI2, membrane form (Mature BRI2) (mBRI2); BRI2 intracellular domain (BRI2 ICD); BRI2C, soluble form; Bri23 peptide (Bri2-23) (ABri23) (C-terminal peptide) (P23 peptide)]

sequence:

opentargets:
endosome membrane [GO:0010008]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; Golgi-associated vesicle membrane [GO:0030660]; integral component of organelle membrane [GO:0031301]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; plasma membrane [GO:0005886]; amyloid-beta binding [GO:0001540]; ATP binding [GO:0005524]; cellular protein metabolic process [GO:0044267]; negative regulation of amyloid precursor protein biosynthetic process [GO:0042985]; nervous system development [GO:0007399]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y287-1; Sequence=Displayed; Name=2; IsoId=Q9Y287-2; Sequence=VSP_055326; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Integral membrane protein 2B: Golgi apparatus membrane {ECO:0000269|PubMed:14656991, ECO:0000269|PubMed:19114711}; Single-pass type II membrane protein {ECO:0000269|PubMed:10526337}. Note=Immature BRI2 (imBRI2) is cleaved by furin in the Golgi into mBRI2 and a Bri23 peptide. mBRI2 is transported to the plasma membrane and Bri23 peptide is secreted.; SUBCELLULAR LOCATION: BRI2, membrane form: Cell membrane {ECO:0000269|PubMed:18440095, ECO:0000269|PubMed:19748705, ECO:0000269|PubMed:21752865}; Single-pass type II membrane protein {ECO:0000269|PubMed:10526337}. Endosome membrane {ECO:0000269|PubMed:19748705}; Single-pass type II membrane protein {ECO:0000269|PubMed:10526337}. Note=Mature BRI2 (mBRI2) needs to be transported from the endoplasmic reticulum compartment to the cell membrane in order to be able to inhibit APP processing. {ECO:0000269|PubMed:19748705}.; SUBCELLULAR LOCATION: Bri23 peptide: Secreted {ECO:0000269|PubMed:10526337, ECO:0000269|PubMed:14656991, ECO:0000269|PubMed:18524908}. Note=Detected in the cerebral spinal fluid (CSF). {ECO:0000269|PubMed:18524908}.; SUBCELLULAR LOCATION: BRI2C, soluble form: Secreted {ECO:0000269|PubMed:17965014}.


uniprotID: Q969R8
geneSymbol: ITFG2
name: KICSTOR complex protein ITFG2 (Integrin-alpha FG-GAP repeat-containing protein 2)
length: 447
go: ENSG00000111203;
sequence:

opentargets:
cytosol [GO:0005829]; KICSTOR complex [GO:0140007]; lysosomal membrane [GO:0005765]; nucleoplasm [GO:0005654]; cellular response to amino acid starvation [GO:0034198]; cellular response to glucose starvation [GO:0042149]; germinal center B cell differentiation [GO:0002314]; negative regulation of TORC1 signaling [GO:1904262]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q969R8-1; Sequence=Displayed; Name=2; IsoId=Q969R8-2; Sequence=VSP_055985, VSP_055986; 

location:
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:28199306}. Note=Localization to lysosomes is amino acid-independent. {ECO:0000269|PubMed:28199306}.


uniprotID: Q99661
geneSymbol: KIF2C
pdb: 2HEH;4UBF;4Y05;5MIO;
name: Kinesin-like protein KIF2C (Kinesin-like protein 6) (Mitotic centromere-associated kinesin) (MCAK)
length: 725
go: ENSG00000142945;
drug: DB04395;
snps: rs4342887
reactome:
R-HSA-141444;R-HSA-2132295;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-6811434;R-HSA-68877;R-HSA-983189;

sequence:

opentargets:
centrosome [GO:0005813]; chromosome, centromeric region [GO:0000775]; condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; kinesin complex [GO:0005871]; kinetochore [GO:0000776]; membrane [GO:0016020]; microtubule [GO:0005874]; microtubule cytoskeleton [GO:0015630]; microtubule plus-end [GO:0035371]; nucleus [GO:0005634]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; centromeric DNA binding [GO:0019237]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; microtubule plus-end binding [GO:0051010]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; attachment of mitotic spindle microtubules to kinetochore [GO:0051315]; cell division [GO:0051301]; cell proliferation [GO:0008283]; establishment or maintenance of microtubule cytoskeleton polarity [GO:0030951]; metaphase plate congression [GO:0051310]; microtubule depolymerization [GO:0007019]; microtubule-based movement [GO:0007018]; mitotic cell cycle [GO:0000278]; mitotic metaphase plate congression [GO:0007080]; regulation of chromosome segregation [GO:0051983]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q99661-1; Sequence=Displayed; Name=2; Synonyms=tsMCAK; IsoId=Q99661-2; Sequence=VSP_002866; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:19632184, ECO:0000269|PubMed:21820309, ECO:0000269|PubMed:23891108}. Nucleus {ECO:0000250|UniProtKB:P70096}. Chromosome, centromere {ECO:0000269|PubMed:14960279, ECO:0000269|PubMed:17485487}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:14960279, ECO:0000269|PubMed:17485487, ECO:0000269|PubMed:23891108}. Note=Associates with the microtubule network at the growing distal tip (the plus-end) of microtubules, probably through interaction with MTUS2/TIP150 and MAPRE1 (By similarity). Association with microtubule plus ends is also mediated by interaction with KIF18B. Centromeric localization requires the presence of BUB1 and SGO2. {ECO:0000250|UniProtKB:P70096, ECO:0000269|PubMed:17485487, ECO:0000269|PubMed:21820309}.


uniprotID: P19827
geneSymbol: ITIH1
length: 911
go: ENSG00000055957;
snps: rs1042777 rs678 rs1042779 rs1042904 rs1042849
location: SUBCELLULAR LOCATION: Secreted.
name:
Inter-alpha-trypsin inhibitor heavy chain H1 (ITI heavy chain H1) (ITI-HC1) (Inter-alpha-inhibitor heavy chain 1) (Inter-alpha-trypsin inhibitor complex component III) (Serum-derived hyaluronan-associated protein) (SHAP)

sequence:

opentargets:
blood microparticle [GO:0072562]; collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; calcium ion binding [GO:0005509]; serine-type endopeptidase inhibitor activity [GO:0004867]; hyaluronan metabolic process [GO:0030212]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P19827-1; Sequence=Displayed; Name=2; IsoId=P19827-2; Sequence=VSP_045420; Note=No experimental confirmation available.; Name=3; IsoId=P19827-3; Sequence=VSP_045419; Note=No experimental confirmation available.; 


uniprotID: P00739
geneSymbol: HPR
reactome: R-HSA-2168880;
name: Haptoglobin-related protein
length: 348
go: ENSG00000261701;
snps: rs11642506 rs152832 rs152833 rs1049933 rs2021171 rs1065360 rs12646
sequence:

opentargets:
blood microparticle [GO:0072562]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; spherical high-density lipoprotein particle [GO:0034366]; hemoglobin binding [GO:0030492]; serine-type endopeptidase activity [GO:0004252]; acute inflammatory response [GO:0002526]; positive regulation of cell death [GO:0010942]; receptor-mediated endocytosis [GO:0006898]; response to organic substance [GO:0010033]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P00739-1; Sequence=Displayed; Name=2; IsoId=P00739-2; Sequence=VSP_014529; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:16778136}. Note=Secreted into blood plasma and associated with subtypes of high density lipoproteins (HDL). {ECO:0000269|PubMed:16778136}.


uniprotID: O14792
geneSymbol: HS3ST1
reactome: R-HSA-2022928;
pdb: 1ZRH;
length: 307
go: ENSG00000002587;
drug: DB01812;
snps: rs11559238 rs34719057
location: SUBCELLULAR LOCATION: Golgi apparatus lumen {ECO:0000305}.
name:
Heparan sulfate glucosamine 3-O-sulfotransferase 1 (EC 2.8.2.23) (Heparan sulfate D-glucosaminyl 3-O-sulfotransferase 1) (3-OST-1) (Heparan sulfate 3-O-sulfotransferase 1) (h3-OST-1)

sequence:

opentargets:
Golgi lumen [GO:0005796]; [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity [GO:0008467]; sulfotransferase activity [GO:0008146]; glycosaminoglycan biosynthetic process [GO:0006024]


uniprotID: Q86XA9
geneSymbol: HEATR5A
name: HEAT repeat-containing protein 5A
length: 2040
go: ENSG00000129493;
sequence:

opentargets:
cytosol [GO:0005829]; endocytic vesicle [GO:0030139]; endocytosis [GO:0006897]; protein localization [GO:0008104]; retrograde transport, endosome to Golgi [GO:0042147]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86XA9-1; Sequence=Displayed; Name=2; IsoId=Q86XA9-2; Sequence=VSP_029686; Note=No experimental confirmation available.; Name=3; IsoId=Q86XA9-3; Sequence=VSP_029685; 


uniprotID: Q96NU7
geneSymbol: AMDHD1
reactome: R-HSA-70921;
name: Probable imidazolonepropionase (EC 3.5.2.7) (Amidohydrolase domain-containing protein 1)
length: 426
go: ENSG00000139344;
snps: rs7955450 rs17024904
sequence:

opentargets:
cytosol [GO:0005829]; hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides [GO:0016812]; imidazolonepropionase activity [GO:0050480]; metal ion binding [GO:0046872]; histidine catabolic process [GO:0006548]; histidine catabolic process to glutamate and formamide [GO:0019556]; histidine catabolic process to glutamate and formate [GO:0019557]


uniprotID: Q7Z4S6
geneSymbol: KIF21A
reactome: R-HSA-6811434;R-HSA-983189;
pdb: 5D3A;5NFD;5YBU;5YBV;
name: Kinesin-like protein KIF21A (Kinesin-like protein KIF2) (Renal carcinoma antigen NY-REN-62)
length: 1674
go: ENSG00000139116;
snps: rs121912588 rs121912590 rs121912589 rs121912586 rs121912585 rs121912587
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305}.
sequence:

opentargets:
cytosol [GO:0005829]; kinesin complex [GO:0005871]; microtubule [GO:0005874]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; microtubule-based movement [GO:0007018]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q7Z4S6-1; Sequence=Displayed; Name=2; IsoId=Q7Z4S6-2; Sequence=VSP_010870; Name=3; IsoId=Q7Z4S6-3; Sequence=VSP_010871; Note=No experimental confirmation available.; Name=4; IsoId=Q7Z4S6-4; Sequence=VSP_010872; Note=No experimental confirmation available.; Name=5; IsoId=Q7Z4S6-5; Sequence=VSP_010870, VSP_046791, VSP_046792; Name=6; IsoId=Q7Z4S6-6; Sequence=VSP_010870, VSP_046790, VSP_046792; 


uniprotID: P43627
geneSymbol: KIR2DL2
reactome: R-HSA-198933;
pdb: 1EFX;2DL2;2DLI;
length: 348
snps: rs3810343 rs613240 rs673568
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
name:
Killer cell immunoglobulin-like receptor 2DL2 (CD158 antigen-like family member B1) (MHC class I NK cell receptor) (Natural killer-associated transcript 6) (NKAT-6) (p58 natural killer cell receptor clone CL-43) (p58 NK receptor CL-43) (CD antigen CD158b1)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; regulation of immune response [GO:0050776]


uniprotID: P43632
geneSymbol: KIR2DS4
reactome: R-HSA-2172127;
pdb: 3H8N;
length: 304
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
name:
Killer cell immunoglobulin-like receptor 2DS4 (CD158 antigen-like family member I) (MHC class I NK cell receptor) (Natural killer-associated transcript 8) (NKAT-8) (P58 natural killer cell receptor clones CL-39/CL-17) (p58 NK receptor CL-39/CL-17) (CD antigen CD158i)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; innate immune response [GO:0045087]

snps:
rs1130480 rs1130481 rs1130482 rs1130487 rs1143508 rs1130491 rs10406301 rs4806591 rs1049290 rs1063326 


uniprotID: Q8N7Y1
geneSymbol: KIRREL3-AS3
length: 241
name:
Putative uncharacterized protein KIRREL3-AS3 (KIRREL3 antisense RNA 1) (KIRREL3 antisense gene protein 1) (Proline-rich protein 10)

sequence:


uniprotID: Q9NS87
geneSymbol: KIF15
reactome: R-HSA-2132295;R-HSA-6811434;R-HSA-983189;
pdb: 4BN2;
length: 1388
go: ENSG00000163808;
snps: rs34862960 rs11710339 rs3804583 rs17076986
name:
Kinesin-like protein KIF15 (Kinesin-like protein 2) (hKLP2) (Kinesin-like protein 7) (Serologically defined breast cancer antigen NY-BR-62)

sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; kinesin complex [GO:0005871]; membrane [GO:0016020]; microtubule [GO:0005874]; plus-end kinesin complex [GO:0005873]; spindle [GO:0005819]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; DNA binding [GO:0003677]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; motor activity [GO:0003774]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; cell proliferation [GO:0008283]; microtubule-based movement [GO:0007018]; mitotic cell cycle [GO:0000278]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9NS87-1; Sequence=Displayed; Name=2; IsoId=Q9NS87-2; Sequence=VSP_032753; Name=3; IsoId=Q9NS87-3; Sequence=VSP_032752; Name=4; IsoId=Q9NS87-4; Sequence=VSP_032754, VSP_032755; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton, spindle. Note=Detected during the interphase in the cytoplasm as finely punctuate pattern and irregularly shaped dots. Detected during mitosis on the mitotic spindle. Colocalizes with TPX2 in mitosis. Localizes at the central spindle at anaphase (By similarity). Localizes at the sites of invaginating cell membranes, a position that corresponds to the location of the contractile actomyosin ring of dividing cells (By similarity). Colocalizes with actin in interphase (By similarity). Colocalizes in dendrites and in growth cone of axons with microtubules (By similarity). {ECO:0000250}.


uniprotID: P0DOX3
pdb: 1ZVO;
name: Immunoglobulin delta heavy chain (Immunoglobulin delta heavy chain WAH)
length: 512
sequence:

opentargets:
extracellular space [GO:0005615]; plasma membrane [GO:0005886]; antigen binding [GO:0003823]; adaptive immune response [GO:0002250]; monocyte activation [GO:0042117]; positive regulation of interleukin-1 beta secretion [GO:0050718]; positive regulation of interleukin-1 secretion [GO:0050716]; positive regulation of tumor necrosis factor secretion [GO:1904469]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000303|PubMed:11282392, ECO:0000303|PubMed:20176268, ECO:0000303|PubMed:22158414}. Cell membrane {ECO:0000303|PubMed:11282392, ECO:0000303|PubMed:20176268, ECO:0000303|PubMed:22158414}.


uniprotID: P08069
geneSymbol: IGF1R
reactome: R-HSA-2404192;R-HSA-2428928;R-HSA-2428933;
length: 1367
go: ENSG00000140443;
drug: DB07474;DB05023;DB05759;DB05900;DB00047;DB00030;DB00046;DB00071;DB01277;DB04395;DB05897;DB05184;
pdb:
1IGR;1JQH;1K3A;1M7N;1P4O;2OJ9;2ZM3;3D94;3F5P;3I81;3LVP;3LW0;3NW5;3NW6;3NW7;3O23;3QQU;4D2R;4XSS;5FXQ;5FXR;5FXS;5HZN;5U8Q;5U8R;

name:
Insulin-like growth factor 1 receptor (EC 2.7.10.1) (Insulin-like growth factor I receptor) (IGF-I receptor) (CD antigen CD221) [Cleaved into: Insulin-like growth factor 1 receptor alpha chain; Insulin-like growth factor 1 receptor beta chain]

sequence:

opentargets:
alphav-beta3 integrin-IGF-1-IGF1R complex [GO:0035867]; axon [GO:0030424]; cytoplasm [GO:0005737]; insulin receptor complex [GO:0005899]; integral component of plasma membrane [GO:0005887]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; ATP binding [GO:0005524]; identical protein binding [GO:0042802]; insulin binding [GO:0043559]; insulin receptor binding [GO:0005158]; insulin receptor substrate binding [GO:0043560]; insulin-activated receptor activity [GO:0005009]; insulin-like growth factor binding [GO:0005520]; insulin-like growth factor I binding [GO:0031994]; insulin-like growth factor-activated receptor activity [GO:0005010]; phosphatidylinositol 3-kinase binding [GO:0043548]; protein tyrosine kinase activity [GO:0004713]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; amyloid-beta clearance [GO:0097242]; cell differentiation [GO:0030154]; cellular response to amyloid-beta [GO:1904646]; dendritic spine maintenance [GO:0097062]; glucose homeostasis [GO:0042593]; immune response [GO:0006955]; inactivation of MAPKK activity [GO:0051389]; insulin receptor signaling pathway [GO:0008286]; insulin-like growth factor receptor signaling pathway [GO:0048009]; negative regulation of apoptotic process [GO:0043066]; negative regulation of signal transduction [GO:0009968]; peptidyl-tyrosine autophosphorylation [GO:0038083]; phosphatidylinositol 3-kinase signaling [GO:0014065]; phosphatidylinositol-mediated signaling [GO:0048015]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of protein complex disassembly [GO:0043243]; protein autophosphorylation [GO:0046777]; protein tetramerization [GO:0051262]; regulation of JNK cascade [GO:0046328]; signal transduction [GO:0007165]

snps:
rs121912426 rs121912427 rs45445894 rs34516635 rs33958176 rs56248469 rs45553041 rs121912429 rs34061581 rs35224135 rs45611935 rs141802822 rs34102392 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17524361}; Single-pass type I membrane protein {ECO:0000269|PubMed:17524361}.


uniprotID: Q96LB3
geneSymbol: IFT74
reactome: R-HSA-5620924;
length: 600
go: ENSG00000096872;
snps: rs10812505 rs11555693 rs12004404 rs17694549 rs34628525 rs138591335 rs3429
name:
Intraflagellar transport protein 74 homolog (Capillary morphogenesis gene 1 protein) (CMG-1) (Coiled-coil domain-containing protein 2)

sequence:

opentargets:
centrosome [GO:0005813]; ciliary tip [GO:0097542]; cilium [GO:0005929]; cytoplasmic vesicle [GO:0031410]; intraciliary transport particle B [GO:0030992]; motile cilium [GO:0031514]; nucleus [GO:0005634]; beta-tubulin binding [GO:0048487]; chromatin binding [GO:0003682]; cilium assembly [GO:0060271]; determination of left/right symmetry [GO:0007368]; heart development [GO:0007507]; intraciliary transport involved in cilium assembly [GO:0035735]; keratinocyte development [GO:0003334]; negative regulation of epithelial cell proliferation [GO:0050680]; non-motile cilium assembly [GO:1905515]; Notch signaling pathway [GO:0007219]; positive regulation of cell adhesion mediated by integrin [GO:0033630]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96LB3-1; Sequence=Displayed; Name=2; IsoId=Q96LB3-2; Sequence=VSP_041328; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium. Cytoplasmic vesicle. Note=Localizes along primary cilia at interphase and around the basal body/centriole at interphase and mitosis.


uniprotID: Q13099
geneSymbol: IFT88
reactome: R-HSA-5610787;R-HSA-5620924;
length: 833
go: ENSG00000032742;
snps: rs2442455 rs9509307 rs9552254
name:
Intraflagellar transport protein 88 homolog (Recessive polycystic kidney disease protein Tg737 homolog) (Tetratricopeptide repeat protein 10) (TPR repeat protein 10)

sequence:

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; ciliary basal body [GO:0036064]; ciliary base [GO:0097546]; ciliary tip [GO:0097542]; cilium [GO:0005929]; intraciliary transport particle B [GO:0030992]; motile cilium [GO:0031514]; non-motile cilium [GO:0097730]; sperm flagellum [GO:0036126]; kinesin binding [GO:0019894]; cilium assembly [GO:0060271]; inner ear receptor cell stereocilium organization [GO:0060122]; intraciliary transport involved in cilium assembly [GO:0035735]; kidney development [GO:0001822]; non-motile cilium assembly [GO:1905515]; regulation of autophagosome assembly [GO:2000785]; regulation of cilium assembly [GO:1902017]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q13099-1; Sequence=Displayed; Name=2; IsoId=Q13099-2; Sequence=VSP_035429; Name=3; IsoId=Q13099-3; Sequence=VSP_040620; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000250|UniProtKB:Q61371}. Cell projection, cilium {ECO:0000269|PubMed:28428259}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:27767179, ECO:0000269|PubMed:28428259, ECO:0000269|PubMed:28625565}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:27767179}. Cytoplasm {ECO:0000250|UniProtKB:Q61371}. Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:Q61371}. Note=Colocalizes with ENTR1 and gamma-tubulin at the basal body of primary cilia. Colocalizes with ENTR1 and pericentrin at the centrosome. {ECO:0000269|PubMed:27767179}.


uniprotID: P27352
geneSymbol: GIF
reactome: R-HSA-196741;R-HSA-3359457;R-HSA-3359462;R-HSA-3359463;
pdb: 2CKT;2PMV;3KQ4;
name: Gastric intrinsic factor (Intrinsic factor) (IF) (INF)
length: 417
go: ENSG00000134812;
drug: DB00115;
snps: rs35211634 rs121434322 rs11825834 rs35867471
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
apical plasma membrane [GO:0016324]; endosome [GO:0005768]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; lysosomal lumen [GO:0043202]; microvillus [GO:0005902]; cobalamin binding [GO:0031419]; cobalamin metabolic process [GO:0009235]; cobalamin transport [GO:0015889]; cobalt ion transport [GO:0006824]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P27352-1; Sequence=Displayed; Name=2; IsoId=P27352-2; Sequence=VSP_041585; 


uniprotID: Q6U949
geneSymbol: IGF2-AS
length: 168
snps: rs17883406 rs17883142 rs1003483 rs1003484
name:
Putative insulin-like growth factor 2 antisense gene protein (IGF2 antisense RNA 1) (IGF2 antisense gene protein 1) (PEG8/IGF2AS protein) (Putative insulin-like growth factor 2 antisense gene protein 1) (IGF2-AS1)

sequence:
MSKRKWRGFRGAQQERAQPPAASPQPCPAPHAGLPGGSRRRAPAPAGQQQMRAESRSGAQRRRGSARRGAHREAGGCVRGRTRSSGSERSNALWQAVDAAEALALSSPLRRPWDQAQHFTNPAPFSKGPQSAPPSPPAGRRRRGADLALTPLAGEGHTRWRQPGRPGK


uniprotID: P78318
geneSymbol: IGBP1
pdb: 4IYP;
length: 339
go: ENSG00000089289;
snps: rs6625580
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
name:
Immunoglobulin-binding protein 1 (B-cell signal transduction molecule alpha 4) (Protein alpha-4) (CD79a-binding protein 1) (Protein phosphatase 2/4/6 regulatory subunit) (Renal carcinoma antigen NY-REN-16)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; protein phosphatase 2A binding [GO:0051721]; protein phosphatase regulator activity [GO:0019888]; B cell activation [GO:0042113]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of stress-activated MAPK cascade [GO:0032873]; negative regulation of transcription by RNA polymerase II [GO:0000122]; regulation of microtubule-based movement [GO:0060632]; response to interleukin-1 [GO:0070555]; response to tumor necrosis factor [GO:0034612]; signal transduction [GO:0007165]


uniprotID: Q8IVU1
geneSymbol: IGDCC3
name: Immunoglobulin superfamily DCC subclass member 3 (Putative neuronal cell adhesion molecule)
length: 814
go: ENSG00000174498;
snps: rs12907128
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; neuromuscular process controlling balance [GO:0050885]


uniprotID: P29622
geneSymbol: SERPINA4
reactome: R-HSA-114608;
name: Kallistatin (Kallikrein inhibitor) (Peptidase inhibitor 4) (PI-4) (Serpin A4)
length: 427
go: ENSG00000100665;
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; platelet dense granule lumen [GO:0031089]; serine-type endopeptidase inhibitor activity [GO:0004867]; negative regulation of endopeptidase activity [GO:0010951]; platelet degranulation [GO:0002576]


uniprotID: Q8TDY8
geneSymbol: IGDCC4
name: Immunoglobulin superfamily DCC subclass member 4 (Neighbor of punc e11) (Protein DDM36) (hDDM36)
length: 1250
go: ENSG00000103742;
opentargets: integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]
snps: rs34355056 rs12442757 rs1469778 rs33918653 rs33918653
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TDY8-1; Sequence=Displayed; Name=2; IsoId=Q8TDY8-2; Sequence=VSP_028046; Note=No experimental confirmation available.; 


uniprotID: Q86T24
geneSymbol: ZBTB33
pdb: 2LT7;3FKC;3M4T;3M8V;4F6M;4F6N;5VMU;5VMV;5VMW;5VMX;5VMY;5VMZ;
name: Transcriptional regulator Kaiso (Zinc finger and BTB domain-containing protein 33)
length: 672
go: ENSG00000177485;
sequence:

opentargets:
cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; methyl-CpG binding [GO:0008327]; sequence-specific DNA binding [GO:0043565]; intracellular signal transduction [GO:0035556]; negative regulation of transcription, DNA-templated [GO:0045892]; Wnt signaling pathway [GO:0016055]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15781635, ECO:0000269|PubMed:16354688}. Cytoplasm {ECO:0000269|PubMed:15781635}. Note=Also cytoplasmic in cells grown at high densities.


uniprotID: Q6UW32
geneSymbol: IGFL1
name: Insulin growth factor-like family member 1
length: 110
go: ENSG00000188293;
opentargets: extracellular space [GO:0005615]; signaling receptor binding [GO:0005102]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:16890402, ECO:0000269|PubMed:21454693}.
sequence:
MAPRGCIVAVFAIFCISRLLCSHGAPVAPMTPYLMLCQPHKRCGDKFYDPLQHCCYDDAVVPLARTQTCGNCTFRVCFEQCCPWTFMVKLINQNCDSARTSDDRLCRSVS


uniprotID: Q6UWQ7
geneSymbol: IGFL2
name: Insulin growth factor-like family member 2
length: 119
go: ENSG00000204866;
opentargets: extracellular space [GO:0005615]; signaling receptor binding [GO:0005102]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MVPRIFAPAYVSVCLLLLCPREVIAPAGSEPWLCQPAPRCGDKIYNPLEQCCYNDAIVSLSETRQCGPPCTFWPCFELCCLDSFGLTNDFVVKLKVQGVNSQCHSSPISSKCESRRRFP

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6UWQ7-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q6UWQ7-2; Sequence=VSP_016606; 


uniprotID: Q6UXB1
geneSymbol: IGFL3
name: Insulin growth factor-like family member 3
length: 125
go: ENSG00000188624;
opentargets: extracellular space [GO:0005615]; signaling receptor binding [GO:0005102]
snps: rs10406448
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MRPRCCILALVCWITVFLLQCSKGTTDAPVGSGLWLCQPTPRCGNKIYNPSEQCCYDDAILSLKETRRCGSTCTFWPCFELCCPESFGPQQKFLVKLRVLGMKSQCHLSPISRSCTRNRRHVLYP


uniprotID: Q6B9Z1
geneSymbol: IGFL4
name: Insulin growth factor-like family member 4
length: 124
go: ENSG00000204869;
opentargets: extracellular space [GO:0005615]; signaling receptor binding [GO:0005102]
snps: rs10412490 rs17271272
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MVPRISAAIFIFELLGSNSEGVTDLRLWLCQPAPRCGEWTYNPLEQCCDDGVILDLNQTRLCGSSCTFWPCFQHCCLESLGSQNQTVVRFKVPGMKPDCKSSPITRICAQEYHPKSPVSRSDLI


uniprotID: Q86VF2
geneSymbol: IGFN1
length: 1251
go: ENSG00000163395;
opentargets: nucleus [GO:0005634]; sarcomere [GO:0030017]; Z disc [GO:0030018]
snps: rs6690992 rs3738270
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000250}.
name:
Immunoglobulin-like and fibronectin type III domain-containing protein 1 (EEF1A2-binding protein 1) (KY-interacting protein 1)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q86VF2-1; Sequence=Displayed; Name=2; IsoId=Q86VF2-2; Sequence=VSP_035055, VSP_035056; Name=3; IsoId=Q86VF2-3; Sequence=VSP_035055, VSP_035056, VSP_035059, VSP_035060; Note=No experimental confirmation available.; Name=4; IsoId=Q86VF2-4; Sequence=VSP_035057, VSP_035058; Note=No experimental confirmation available.; Name=5; IsoId=Q86VF2-5; Sequence=VSP_045740; Note=No experimental confirmation available.; 


uniprotID: Q14678
geneSymbol: KANK1
reactome: R-HSA-9018519;
pdb: 5YBJ;5YBU;
length: 1352
go: ENSG00000107104;
snps: rs17857145 rs28374506 rs17857159 rs4465020 rs912174 rs3824421 rs3824420 rs12352313 rs34832656
name:
KN motif and ankyrin repeat domain-containing protein 1 (Ankyrin repeat domain-containing protein 15) (Kidney ankyrin repeat-containing protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ruffle membrane [GO:0032587]; beta-catenin binding [GO:0008013]; actin cytoskeleton organization [GO:0030036]; cell proliferation [GO:0008283]; glomerular visceral epithelial cell migration [GO:0090521]; negative regulation of actin filament polymerization [GO:0030837]; negative regulation of cell migration [GO:0030336]; negative regulation of insulin receptor signaling pathway [GO:0046627]; negative regulation of lamellipodium morphogenesis [GO:2000393]; negative regulation of neuron projection development [GO:0010977]; negative regulation of Rho protein signal transduction [GO:0035024]; negative regulation of ruffle assembly [GO:1900028]; negative regulation of substrate adhesion-dependent cell spreading [GO:1900025]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of Wnt signaling pathway [GO:0030177]; positive regulation of wound healing [GO:0090303]; regulation of establishment of cell polarity [GO:2000114]; regulation of Rho protein signal transduction [GO:0035023]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage; Named isoforms=2;  Name=1; Synonyms=Kank-L; IsoId=Q14678-1; Sequence=Displayed; Name=2; Synonyms=Kank-S; IsoId=Q14678-2; Sequence=VSP_043958; 

location:
SUBCELLULAR LOCATION: Cell projection, ruffle membrane {ECO:0000269|PubMed:19559006}. Cytoplasm {ECO:0000269|PubMed:12133830, ECO:0000269|PubMed:16968744}. Nucleus {ECO:0000269|PubMed:16968744}. Note=Colocalizes with KIF21A in membrane ruffles (PubMed:19559006). Shuttles between the cytoplasm and nucleus (PubMed:16968744). {ECO:0000269|PubMed:16968744, ECO:0000269|PubMed:19559006}.; SUBCELLULAR LOCATION: Isoform 1: Cytoplasm {ECO:0000269|PubMed:16968744, ECO:0000269|PubMed:25961457}. Nucleus {ECO:0000269|PubMed:16968744, ECO:0000269|PubMed:25961457}. Note=Shuttles between the cytoplasm and nucleus. {ECO:0000269|PubMed:16968744}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000269|PubMed:16968744}. Nucleus {ECO:0000269|PubMed:16968744}. Note=Shuttles between the cytoplasm and nucleus. {ECO:0000269|PubMed:16968744}.


uniprotID: Q63ZY3
geneSymbol: KANK2
pdb: 4HBD;5YBV;
length: 851
go: ENSG00000197256;
snps: rs755237 rs17616661 rs606231303
name:
KN motif and ankyrin repeat domain-containing protein 2 (Ankyrin repeat domain-containing protein 25) (Matrix-remodeling-associated protein 3) (SRC-1-interacting protein) (SIP) (SRC-interacting protein) (SRC1-interacting protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrion [GO:0005739]; apoptotic process [GO:0006915]; glomerular visceral epithelial cell migration [GO:0090521]; kidney epithelium development [GO:0072073]; negative regulation of cell proliferation [GO:0008285]; negative regulation of G1/S transition of mitotic cell cycle [GO:2000134]; negative regulation of intracellular estrogen receptor signaling pathway [GO:0033147]; negative regulation of programmed cell death [GO:0043069]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of vitamin D receptor signaling pathway [GO:0070563]; regulation of Rho protein signal transduction [GO:0035023]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q63ZY3-1; Sequence=Displayed; Name=2; IsoId=Q63ZY3-2; Sequence=VSP_019427; Note=No experimental confirmation available.; Name=3; IsoId=Q63ZY3-3; Sequence=VSP_019428, VSP_019429; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17476305, ECO:0000269|PubMed:17996375, ECO:0000269|PubMed:22371500, ECO:0000269|PubMed:25961457}. Mitochondrion {ECO:0000269|PubMed:22371500}.


uniprotID: Q6NY19
geneSymbol: KANK3
length: 840
go: ENSG00000186994;
opentargets: cytoplasm [GO:0005737]; negative regulation of actin filament polymerization [GO:0030837]
snps: rs890850 rs890853 rs2913955
name:
KN motif and ankyrin repeat domain-containing protein 3 (Ankyrin repeat domain-containing protein 47)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6NY19-1; Sequence=Displayed; Name=2; IsoId=Q6NY19-2; Sequence=VSP_019607; 


uniprotID: Q5T7N3
geneSymbol: KANK4
length: 995
go: ENSG00000132854;
snps: rs17123306 rs11207949 rs2258470 rs2666472 rs2941679 rs34591898
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17996375, ECO:0000269|PubMed:25961457}.
name:
KN motif and ankyrin repeat domain-containing protein 4 (Ankyrin repeat domain-containing protein 38)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; microtubule cytoskeleton [GO:0015630]; negative regulation of actin filament polymerization [GO:0030837]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5T7N3-1; Sequence=Displayed; Name=2; IsoId=Q5T7N3-2; Sequence=VSP_019552, VSP_019553; Note=No experimental confirmation available.; 


uniprotID: Q7Z3B3
geneSymbol: KANSL1
reactome: R-HSA-3214847;
pdb: 4CY1;4CY2;
length: 1105
snps: rs17585974 rs17662853 rs35643216 rs34043286 rs7220988 rs34579536
name:
KAT8 regulatory NSL complex subunit 1 (MLL1/MLL complex subunit KANSL1) (MSL1 homolog 1) (hMSL1v1) (NSL complex protein NSL1) (Non-specific lethal 1 homolog)

sequence:

opentargets:
condensed chromosome kinetochore [GO:0000777]; histone acetyltransferase complex [GO:0000123]; MLL1 complex [GO:0071339]; NSL complex [GO:0044545]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; histone acetyltransferase binding [GO:0035035]; histone H4-K16 acetylation [GO:0043984]; histone H4-K5 acetylation [GO:0043981]; histone H4-K8 acetylation [GO:0043982]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q7Z3B3-1; Sequence=Displayed; Name=2; IsoId=Q7Z3B3-2; Sequence=VSP_041132, VSP_041133; Note=May be due to an intron retention. No experimental confirmation available.; Name=3; IsoId=Q7Z3B3-4; Sequence=VSP_041132, VSP_041133, VSP_058944; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20018852}. Nucleus. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:20813266}.


uniprotID: Q9H9L4
geneSymbol: KANSL2
reactome: R-HSA-3214847;
pdb: 4CY2;
name: KAT8 regulatory NSL complex subunit 2 (NSL complex protein NSL2) (Non-specific lethal 2 homolog)
length: 492
go: ENSG00000139620;
snps: rs17238800 rs3741628
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20018852}.
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytosol [GO:0005829]; histone acetyltransferase complex [GO:0000123]; NSL complex [GO:0044545]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; histone H4-K16 acetylation [GO:0043984]; histone H4-K5 acetylation [GO:0043981]; histone H4-K8 acetylation [GO:0043982]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H9L4-1; Sequence=Displayed; Name=2; IsoId=Q9H9L4-4; Sequence=VSP_042530, VSP_042531; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q9P2N6
geneSymbol: KANSL3
reactome: R-HSA-3214847;
length: 904
go: ENSG00000114982;
snps: rs34406082
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20018852}.
name:
KAT8 regulatory NSL complex subunit 3 (NSL complex protein NSL3) (Non-specific lethal 3 homolog) (Serum inhibited-related protein) (Testis development protein PRTD)

sequence:

opentargets:
histone acetyltransferase complex [GO:0000123]; intracellular membrane-bounded organelle [GO:0043231]; NSL complex [GO:0044545]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; histone H4-K16 acetylation [GO:0043984]; histone H4-K5 acetylation [GO:0043981]; histone H4-K8 acetylation [GO:0043982]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; IsoId=Q9P2N6-1; Sequence=Displayed; Note=No experimental confirmation available. Gene prediction based on orthology in N-terminus. {ECO:0000305}; Name=2; IsoId=Q9P2N6-2; Sequence=VSP_025333; 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=Q9P2N6-3; Sequence=VSP_025329; Name=4; IsoId=Q9P2N6-4; Sequence=VSP_025325, VSP_025329; Name=5; IsoId=Q9P2N6-5; Sequence=VSP_025325, VSP_025329, VSP_025332; Note=No experimental confirmation available.; Name=6; IsoId=Q9P2N6-6; Sequence=VSP_025324, VSP_025326, VSP_025329, VSP_025332; Note=No experimental confirmation available.; Name=7; IsoId=Q9P2N6-7; Sequence=VSP_025325, VSP_025327, VSP_025328; Note=No experimental confirmation available.; Name=8; IsoId=Q9P2N6-8; Sequence=VSP_025325, VSP_025329, VSP_025330, VSP_025331; Note=No experimental confirmation available.; 


uniprotID: P10644
geneSymbol: PRKAR1A
reactome: R-HSA-163615;R-HSA-164378;R-HSA-180024;R-HSA-381676;R-HSA-432040;R-HSA-5610787;R-HSA-983231;
pdb: 5KJX;5KJY;5KJZ;
length: 381
go: ENSG00000108946;
drug: DB02527;DB02315;DB05798;
snps: rs137853303 rs281864786 rs387906695 rs387906694 rs387906693
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23115245}.
name:
cAMP-dependent protein kinase type I-alpha regulatory subunit (Tissue-specific extinguisher 1) (TSE1)

sequence:

opentargets:
cAMP-dependent protein kinase complex [GO:0005952]; ciliary base [GO:0097546]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; glutamatergic synapse [GO:0098978]; membrane [GO:0016020]; neuromuscular junction [GO:0031594]; nucleotide-activated protein kinase complex [GO:0031588]; plasma membrane raft [GO:0044853]; protein-containing complex [GO:0032991]; 3',5'-cyclic-GMP phosphodiesterase activity [GO:0047555]; cAMP binding [GO:0030552]; cAMP-dependent protein kinase inhibitor activity [GO:0004862]; cAMP-dependent protein kinase regulator activity [GO:0008603]; protein domain specific binding [GO:0019904]; protein kinase A catalytic subunit binding [GO:0034236]; ubiquitin protein ligase binding [GO:0031625]; activation of protein kinase A activity [GO:0034199]; blood coagulation [GO:0007596]; cardiac muscle cell proliferation [GO:0060038]; cellular response to glucagon stimulus [GO:0071377]; cGMP-mediated signaling [GO:0019934]; female meiotic nuclear division [GO:0007143]; intracellular signal transduction [GO:0035556]; mesoderm formation [GO:0001707]; negative regulation of activated T cell proliferation [GO:0046007]; negative regulation of cAMP-dependent protein kinase activity [GO:2000480]; negative regulation of meiotic nuclear division [GO:0045835]; regulation of transcription by RNA polymerase II [GO:0006357]; renal water homeostasis [GO:0003091]; sarcomere organization [GO:0045214]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P10644-1; Sequence=Displayed; Name=2; IsoId=P10644-2; Sequence=VSP_054833, VSP_054834; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: P31321
geneSymbol: PRKAR1B
reactome: R-HSA-163615;R-HSA-164378;R-HSA-180024;R-HSA-381676;R-HSA-432040;R-HSA-5610787;R-HSA-983231;
pdb: 4DIN;4F9K;
name: cAMP-dependent protein kinase type I-beta regulatory subunit
length: 381
go: ENSG00000188191;
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23115245}.
sequence:

opentargets:
cAMP-dependent protein kinase complex [GO:0005952]; ciliary base [GO:0097546]; cytosol [GO:0005829]; glutamatergic synapse [GO:0098978]; hippocampal mossy fiber to CA3 synapse [GO:0098686]; plasma membrane [GO:0005886]; Schaffer collateral - CA1 synapse [GO:0098685]; 3',5'-cyclic-GMP phosphodiesterase activity [GO:0047555]; cAMP binding [GO:0030552]; cAMP-dependent protein kinase inhibitor activity [GO:0004862]; cAMP-dependent protein kinase regulator activity [GO:0008603]; protein kinase A catalytic subunit binding [GO:0034236]; activation of protein kinase A activity [GO:0034199]; blood coagulation [GO:0007596]; cellular response to glucagon stimulus [GO:0071377]; cGMP-mediated signaling [GO:0019934]; learning or memory [GO:0007611]; modulation of chemical synaptic transmission [GO:0050804]; negative regulation of cAMP-dependent protein kinase activity [GO:2000480]; protein phosphorylation [GO:0006468]; regulation of synaptic vesicle cycle [GO:0098693]; renal water homeostasis [GO:0003091]


uniprotID: P13861
geneSymbol: PRKAR2A
pdb: 2IZX;2KYG;4ZP3;5H78;5XBY;
name: cAMP-dependent protein kinase type II-alpha regulatory subunit
length: 404
go: ENSG00000114302;
drug: DB05798;
reactome:
R-HSA-163615;R-HSA-164378;R-HSA-180024;R-HSA-381676;R-HSA-432040;R-HSA-5610787;R-HSA-9010642;R-HSA-983231;

sequence:

opentargets:
cAMP-dependent protein kinase complex [GO:0005952]; centrosome [GO:0005813]; ciliary base [GO:0097546]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; membrane [GO:0016020]; nucleotide-activated protein kinase complex [GO:0031588]; plasma membrane [GO:0005886]; plasma membrane raft [GO:0044853]; protein-containing complex [GO:0032991]; 3',5'-cyclic-GMP phosphodiesterase activity [GO:0047555]; cAMP binding [GO:0030552]; cAMP-dependent protein kinase inhibitor activity [GO:0004862]; cAMP-dependent protein kinase regulator activity [GO:0008603]; protein domain specific binding [GO:0019904]; protein kinase A catalytic subunit binding [GO:0034236]; ubiquitin protein ligase binding [GO:0031625]; activation of protein kinase A activity [GO:0034199]; blood coagulation [GO:0007596]; cellular response to glucagon stimulus [GO:0071377]; cGMP-mediated signaling [GO:0019934]; intracellular signal transduction [GO:0035556]; negative regulation of cAMP-dependent protein kinase activity [GO:2000480]; renal water homeostasis [GO:0003091]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P13861-1; Sequence=Displayed; Name=2; IsoId=P13861-2; Sequence=VSP_056821; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21423175}. Cell membrane {ECO:0000269|PubMed:21423175}. Note=Colocalizes with PJA2 in the cytoplasm and the cell membrane.


uniprotID: P31323
geneSymbol: PRKAR2B
name: cAMP-dependent protein kinase type II-beta regulatory subunit
length: 418
go: ENSG00000005249;
drug: DB02527;
snps: rs3729881
reactome:
R-HSA-163615;R-HSA-164378;R-HSA-180024;R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-381676;R-HSA-432040;R-HSA-5610787;R-HSA-5620912;R-HSA-8854518;R-HSA-983231;

sequence:

opentargets:
cAMP-dependent protein kinase complex [GO:0005952]; centrosome [GO:0005813]; ciliary base [GO:0097546]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendritic shaft [GO:0043198]; dendritic spine [GO:0043197]; extracellular exosome [GO:0070062]; glutamatergic synapse [GO:0098978]; membrane raft [GO:0045121]; neuronal cell body [GO:0043025]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; 3',5'-cyclic-GMP phosphodiesterase activity [GO:0047555]; cAMP binding [GO:0030552]; cAMP-dependent protein kinase inhibitor activity [GO:0004862]; cAMP-dependent protein kinase regulator activity [GO:0008603]; protein domain specific binding [GO:0019904]; protein kinase A catalytic subunit binding [GO:0034236]; ubiquitin protein ligase binding [GO:0031625]; activation of protein kinase A activity [GO:0034199]; blood coagulation [GO:0007596]; cellular response to glucagon stimulus [GO:0071377]; cGMP-mediated signaling [GO:0019934]; ciliary basal body-plasma membrane docking [GO:0097711]; fatty acid metabolic process [GO:0006631]; G2/M transition of mitotic cell cycle [GO:0000086]; intracellular signal transduction [GO:0035556]; learning [GO:0007612]; modulation of chemical synaptic transmission [GO:0050804]; negative regulation of cAMP-dependent protein kinase activity [GO:2000480]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; renal water homeostasis [GO:0003091]; response to clozapine [GO:0097338]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21423175}. Cell membrane {ECO:0000269|PubMed:21423175}. Note=Colocalizes with PJA2 in the cytoplasm and at the cell membrane.


uniprotID: Q86Y91
geneSymbol: KIF18B
reactome: R-HSA-6811434;R-HSA-983189;
name: Kinesin-like protein KIF18B
length: 864
go: ENSG00000186185;
snps: rs17546822
sequence:

opentargets:
astral microtubule [GO:0000235]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; kinesin complex [GO:0005871]; microtubule [GO:0005874]; microtubule end [GO:1990752]; microtubule plus-end [GO:0035371]; mitotic spindle astral microtubule [GO:0061673]; mitotic spindle midzone [GO:1990023]; nuclear body [GO:0016604]; nucleus [GO:0005634]; ATP binding [GO:0005524]; ATP-dependent microtubule motor activity, plus-end-directed [GO:0008574]; ATPase activity [GO:0016887]; kinesin binding [GO:0019894]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; motor activity [GO:0003774]; cell division [GO:0051301]; microtubule depolymerization [GO:0007019]; microtubule-based movement [GO:0007018]; mitotic cell cycle [GO:0000278]; mitotic sister chromatid segregation [GO:0000070]; regulation of cell division [GO:0051302]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q86Y91-1; Sequence=Displayed; Name=2; IsoId=Q86Y91-2; Sequence=VSP_040706, VSP_040707, VSP_040708; Note=No experimental confirmation available.; Name=3; IsoId=Q86Y91-3; Sequence=VSP_040705, VSP_040706; Name=4; IsoId=Q86Y91-4; Sequence=VSP_040706; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Cytoplasm, cytoskeleton. Note=Present predominantly in the nucleus and to a lesser extent in the cytoplasm of interphase cells. During mitosis, found to be closely associated with astral microtubule plus ends emanating from the spindle pole during prometaphase and metaphase.


uniprotID: Q9ULI4
geneSymbol: KIF26A
reactome: R-HSA-2132295;R-HSA-6811434;R-HSA-983189;
name: Kinesin-like protein KIF26A
length: 1882
go: ENSG00000066735;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305}.
sequence:

opentargets:
cytosol [GO:0005829]; kinesin complex [GO:0005871]; microtubule [GO:0005874]; ATP binding [GO:0005524]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; enteric nervous system development [GO:0048484]; microtubule-based movement [GO:0007018]; negative regulation of signal transduction [GO:0009968]; regulation of cell growth by extracellular stimulus [GO:0001560]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]


uniprotID: P43626
geneSymbol: KIR2DL1
reactome: R-HSA-198933;
pdb: 1IM9;1NKR;
length: 348
snps: rs2304224 rs3810343 rs35509911 rs673568 rs687885
name:
Killer cell immunoglobulin-like receptor 2DL1 (CD158 antigen-like family member A) (MHC class I NK cell receptor) (Natural killer-associated transcript 1) (NKAT-1) (p58 natural killer cell receptor clones CL-42/47.11) (p58 NK receptor CL-42/47.11) (p58.1 MHC class-I-specific NK receptor) (CD antigen CD158a)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; signaling receptor activity [GO:0038023]; immune response [GO:0006955]; natural killer cell inhibitory signaling pathway [GO:0002769]; regulation of immune response [GO:0050776]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P43626-1; Sequence=Displayed; Name=2; IsoId=P43626-2; Sequence=VSP_056314; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18624290}; Single-pass type I membrane protein.


uniprotID: P43628
geneSymbol: KIR2DL3
reactome: R-HSA-198933;
pdb: 1B6U;
length: 341
go: ENSG00000243772;
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
name:
Killer cell immunoglobulin-like receptor 2DL3 (CD158 antigen-like family member B2) (KIR-023GB) (Killer inhibitory receptor cl 2-3) (MHC class I NK cell receptor) (NKAT2a) (NKAT2b) (Natural killer-associated transcript 2) (NKAT-2) (p58 natural killer cell receptor clone CL-6) (p58 NK receptor CL-6) (p58.2 MHC class-I-specific NK receptor) (CD antigen CD158b2)

sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; antigen binding [GO:0003823]; signaling receptor activity [GO:0038023]; immune response [GO:0006955]; regulation of immune response [GO:0050776]

snps:
rs3810343 rs202032116 rs683003 rs613240 rs35719984 rs78713511 rs138897134 rs35861855 rs4020187 rs1049267 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P43628-1; Sequence=Displayed; Name=2; Synonyms=NKAT2a-delta-Ig2; IsoId=P43628-2; Sequence=VSP_007814; 


uniprotID: P43631
geneSymbol: KIR2DS2
reactome: R-HSA-198933;R-HSA-2172127;
pdb: 1M4K;4N8V;
length: 304
snps: rs189739973 rs1049626616 rs2262065 rs1063326
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
name:
Killer cell immunoglobulin-like receptor 2DS2 (CD158 antigen-like family member J) (MHC class I NK cell receptor) (NK receptor 183 ActI) (Natural killer-associated transcript 5) (NKAT-5) (p58 natural killer cell receptor clone CL-49) (p58 NK receptor CL-49) (CD antigen CD158j)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; transmembrane signaling receptor activity [GO:0004888]; immune response [GO:0006955]; innate immune response [GO:0045087]; regulation of immune response [GO:0050776]


uniprotID: Q14953
geneSymbol: KIR2DS5
reactome: R-HSA-2172127;
length: 304
name:
Killer cell immunoglobulin-like receptor 2DS5 (CD158 antigen-like family member G) (MHC class I NK cell receptor) (Natural killer-associated transcript 9) (NKAT-9) (CD antigen CD158g)

sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; HLA-C specific inhibitory MHC class I receptor activity [GO:0030110]; immune response [GO:0006955]; innate immune response [GO:0045087]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18624290, ECO:0000269|PubMed:18682925, ECO:0000269|PubMed:24269691}; Single-pass type I membrane protein {ECO:0000305}; Extracellular side {ECO:0000269|PubMed:18682925, ECO:0000269|PubMed:24269691}.


uniprotID: P52732
geneSymbol: KIF11
reactome: R-HSA-2132295;R-HSA-6811434;R-HSA-983189;
length: 1056
go: ENSG00000138160;
drug: DB04331;
snps: rs387906643 rs387906642 rs34417963
pdb:
1II6;1Q0B;1X88;1YRS;2FKY;2FL2;2FL6;2FME;2G1Q;2GM1;2IEH;2PG2;2Q2Y;2Q2Z;2UYI;2UYM;2WOG;2X2R;2X7C;2X7D;2X7E;2XAE;3CJO;3HQD;3K3B;3K5E;3KEN;3L9H;3WPN;3ZCW;4A1Z;4A28;4A50;4A51;4A5Y;4AP0;4AQV;4AQW;4AS7;4B7B;4BBG;4BXN;4CK5;4CK6;4CK7;4ZCA;4ZHI;5JV3;6G6Y;6G6Z;

name:
Kinesin-like protein KIF11 (Kinesin-like protein 1) (Kinesin-like spindle protein HKSP) (Kinesin-related motor protein Eg5) (Thyroid receptor-interacting protein 5) (TR-interacting protein 5) (TRIP-5)

sequence:

opentargets:
cytosol [GO:0005829]; kinesin complex [GO:0005871]; membrane [GO:0016020]; microtubule [GO:0005874]; mitotic spindle [GO:0072686]; nucleus [GO:0005634]; spindle [GO:0005819]; spindle microtubule [GO:0005876]; spindle pole [GO:0000922]; ATP binding [GO:0005524]; ATP-dependent microtubule motor activity, plus-end-directed [GO:0008574]; ATPase activity [GO:0016887]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; protein kinase binding [GO:0019901]; protein-containing complex binding [GO:0044877]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; cell division [GO:0051301]; microtubule-based movement [GO:0007018]; mitotic cell cycle [GO:0000278]; mitotic centrosome separation [GO:0007100]; mitotic spindle assembly [GO:0090307]; mitotic spindle organization [GO:0007052]; regulation of mitotic centrosome separation [GO:0046602]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]; spindle organization [GO:0007051]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19001501, ECO:0000269|PubMed:23857769}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:19001501}.


uniprotID: Q9P2E2
geneSymbol: KIF17
reactome: R-HSA-5620924;
name: Kinesin-like protein KIF17 (KIF3-related motor protein)
length: 1029
go: ENSG00000117245;
snps: rs2296225 rs56750936 rs522496 rs558760 rs13375609 rs631357
sequence:

opentargets:
axoneme [GO:0005930]; ciliary basal body [GO:0036064]; cilium [GO:0005929]; cytosol [GO:0005829]; dendrite cytoplasm [GO:0032839]; intraciliary transport particle B [GO:0030992]; kinesin complex [GO:0005871]; microtubule [GO:0005874]; neuron projection [GO:0043005]; periciliary membrane compartment [GO:1990075]; photoreceptor connecting cilium [GO:0032391]; ATP binding [GO:0005524]; ATP-dependent microtubule motor activity, plus-end-directed [GO:0008574]; ATPase activity [GO:0016887]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; anterograde dendritic transport of neurotransmitter receptor complex [GO:0098971]; intraciliary transport involved in cilium assembly [GO:0035735]; microtubule-based movement [GO:0007018]; protein transport [GO:0015031]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=KIF17b; IsoId=Q9P2E2-1; Sequence=Displayed; Name=2; IsoId=Q9P2E2-3; Sequence=VSP_040346; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305}. Cell projection, cilium {ECO:0000250|UniProtKB:Q99PW8}.


uniprotID: Q2TAC6
geneSymbol: KIF19
reactome: R-HSA-6811434;R-HSA-983189;
name: Kinesin-like protein KIF19
length: 998
go: ENSG00000196169;
snps: rs2382644 rs2271535 rs9891620 rs9675190
sequence:

opentargets:
axoneme [GO:0005930]; cilium [GO:0005929]; kinesin complex [GO:0005871]; microtubule [GO:0005874]; ATP binding [GO:0005524]; ATP-dependent microtubule motor activity, plus-end-directed [GO:0008574]; ATPase activity [GO:0016887]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; axonemal microtubule depolymerization [GO:0060404]; microtubule-based movement [GO:0007018]; plus-end specific microtubule depolymerization [GO:0070462]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q2TAC6-1; Sequence=Displayed; Name=2; IsoId=Q2TAC6-2; Sequence=VSP_023208, VSP_023209; Note=Due to intron retention.; Name=3; IsoId=Q2TAC6-3; Sequence=VSP_023207, VSP_023208, VSP_023209; Note=Due to intron retention. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}. Cell projection, cilium {ECO:0000250}. Note=Localizes to cilia tips. {ECO:0000250}.


uniprotID: Q12756
geneSymbol: KIF1A
reactome: R-HSA-6811434;R-HSA-983189;
pdb: 4EGX;4EJQ;4UXO;4UXP;4UXR;4UXS;
length: 1690
go: ENSG00000130294;
drug: DB04395;
name:
Kinesin-like protein KIF1A (Axonal transporter of synaptic vesicles) (Microtubule-based motor KIF1A) (Unc-104- and KIF1A-related protein) (hUnc-104)

sequence:

opentargets:
axon [GO:0030424]; axon cytoplasm [GO:1904115]; cytosol [GO:0005829]; dendrite [GO:0030425]; kinesin complex [GO:0005871]; microtubule [GO:0005874]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; postsynapse [GO:0098794]; synaptic vesicle [GO:0008021]; ATP binding [GO:0005524]; ATP-dependent microtubule motor activity, plus-end-directed [GO:0008574]; ATPase activity [GO:0016887]; identical protein binding [GO:0042802]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; motor activity [GO:0003774]; protein homodimerization activity [GO:0042803]; anterograde axonal transport [GO:0008089]; anterograde neuronal dense core vesicle transport [GO:1990048]; cytoskeleton-dependent intracellular transport [GO:0030705]; interkinetic nuclear migration [GO:0022027]; microtubule-based movement [GO:0007018]; protein transport along microtubule [GO:0098840]; retrograde neuronal dense core vesicle transport [GO:1990049]; vesicle-mediated transport [GO:0016192]

snps:
rs182395595 rs672601362 rs786200949 rs387906799 rs672601363 rs1064795534 rs374178011 rs672601364 rs672601365 rs370623844 rs672601366 rs371039513 rs672601367 rs797045164 rs672601368 rs672601368 rs201314877 rs373882732 rs672601371 rs672601369 rs387906798 rs672601370 rs375423065 rs387907259 rs373042822 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q12756-1; Sequence=Displayed; Name=2; IsoId=Q12756-2; Sequence=VSP_021853, VSP_021854, VSP_021855; Name=3; IsoId=Q12756-3; Sequence=VSP_021853, VSP_021854; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:21376300}. Note=Expressed in distal regions of neurites. {ECO:0000269|PubMed:25265257}.


uniprotID: P06756
geneSymbol: ITGAV
length: 1048
go: ENSG00000138448;
drug: DB00098;
snps: rs3738918 rs2230615 rs2230616
reactome:
R-HSA-1236973;R-HSA-1566948;R-HSA-210990;R-HSA-2129379;R-HSA-216083;R-HSA-3000157;R-HSA-3000170;R-HSA-3000178;R-HSA-4420097;R-HSA-445144;R-HSA-6798695;

pdb:
1JV2;1L5G;1M1X;1U8C;3IJE;4G1E;4G1M;4MMX;4MMY;4MMZ;4O02;4UM8;4UM9;5FFG;5FFO;5NEM;5NER;5NET;5NEU;6AVQ;6AVR;6AVU;6DJP;

name:
Integrin alpha-V (Vitronectin receptor) (Vitronectin receptor subunit alpha) (CD antigen CD51) [Cleaved into: Integrin alpha-V heavy chain; Integrin alpha-V light chain]

sequence:

opentargets:
alphav-beta3 integrin-HMGB1 complex [GO:0035868]; alphav-beta3 integrin-IGF-1-IGF1R complex [GO:0035867]; alphav-beta3 integrin-PKCalpha complex [GO:0035866]; cell surface [GO:0009986]; cytosol [GO:0005829]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; filopodium membrane [GO:0031527]; focal adhesion [GO:0005925]; integral component of plasma membrane [GO:0005887]; integrin alphav-beta3 complex [GO:0034683]; integrin alphav-beta5 complex [GO:0034684]; integrin alphav-beta6 complex [GO:0034685]; integrin alphav-beta8 complex [GO:0034686]; integrin complex [GO:0008305]; lamellipodium membrane [GO:0031258]; membrane [GO:0016020]; microvillus membrane [GO:0031528]; phagocytic vesicle [GO:0045335]; plasma membrane [GO:0005886]; ruffle membrane [GO:0032587]; specific granule membrane [GO:0035579]; coreceptor activity [GO:0015026]; extracellular matrix binding [GO:0050840]; extracellular matrix protein binding [GO:1990430]; fibronectin binding [GO:0001968]; integrin binding [GO:0005178]; metal ion binding [GO:0046872]; opsonin binding [GO:0001846]; protease binding [GO:0002020]; protein kinase C binding [GO:0005080]; transforming growth factor beta binding [GO:0050431]; virus receptor activity [GO:0001618]; voltage-gated calcium channel activity [GO:0005245]; angiogenesis [GO:0001525]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; apolipoprotein A-I-mediated signaling pathway [GO:0038027]; apoptotic cell clearance [GO:0043277]; calcium ion transmembrane transport [GO:0070588]; cell adhesion [GO:0007155]; cell adhesion mediated by integrin [GO:0033627]; cell-matrix adhesion [GO:0007160]; cell-substrate adhesion [GO:0031589]; endodermal cell differentiation [GO:0035987]; entry of symbiont into host cell by promotion of host phagocytosis [GO:0052066]; ERK1 and ERK2 cascade [GO:0070371]; extracellular matrix organization [GO:0030198]; extrinsic apoptotic signaling pathway in absence of ligand [GO:0097192]; heterotypic cell-cell adhesion [GO:0034113]; integrin-mediated signaling pathway [GO:0007229]; leukocyte migration [GO:0050900]; negative chemotaxis [GO:0050919]; negative regulation of entry of bacterium into host cell [GO:2000536]; negative regulation of extrinsic apoptotic signaling pathway [GO:2001237]; negative regulation of lipid storage [GO:0010888]; negative regulation of lipid transport [GO:0032369]; negative regulation of lipoprotein metabolic process [GO:0050748]; negative regulation of low-density lipoprotein particle receptor biosynthetic process [GO:0045715]; negative regulation of macrophage derived foam cell differentiation [GO:0010745]; neutrophil degranulation [GO:0043312]; positive regulation of cell adhesion [GO:0045785]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of osteoblast proliferation [GO:0033690]; regulation of phagocytosis [GO:0050764]; regulation of transforming growth factor beta activation [GO:1901388]; substrate adhesion-dependent cell spreading [GO:0034446]; transforming growth factor-beta secretion [GO:0038044]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]; vasculogenesis [GO:0001570]; viral entry into host cell [GO:0046718]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P06756-1; Sequence=Displayed; Name=2; IsoId=P06756-2; Sequence=VSP_024351; Note=No experimental confirmation available.; Name=3; IsoId=P06756-3; Sequence=VSP_044914; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. Cell junction, focal adhesion {ECO:0000269|PubMed:17158881}.


uniprotID: Q9UIL4
geneSymbol: KIF25
reactome: R-HSA-6811434;R-HSA-983189;
name: Kinesin-like protein KIF25 (Kinesin-like protein 3)
length: 384
go: ENSG00000125337;
snps: rs4708626 rs34049091 rs12197062 rs2073634
sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; kinesin complex [GO:0005871]; microtubule [GO:0005874]; ATP binding [GO:0005524]; ATP-dependent microtubule motor activity, minus-end-directed [GO:0008569]; ATPase activity [GO:0016887]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; establishment of spindle orientation [GO:0051294]; microtubule-based movement [GO:0007018]; mitotic sister chromatid segregation [GO:0000070]; negative regulation of autophagy [GO:0010507]; negative regulation of mitotic centrosome separation [GO:0046603]; nucleus localization [GO:0051647]; organelle organization [GO:0006996]; protein homotetramerization [GO:0051289]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UIL4-1; Sequence=Displayed; Name=2; IsoId=Q9UIL4-2; Sequence=VSP_002867; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250|UniProtKB:Q4R918}.


uniprotID: B7ZC32
geneSymbol: KIF28P
reactome: R-HSA-6811434;R-HSA-983189;
name: Kinesin-like protein KIF28P (Kinesin-like protein 6)
length: 967
sequence:

opentargets:
intracellular [GO:0005622]; kinesin complex [GO:0005871]; microtubule [GO:0005874]; mitochondrial membrane [GO:0031966]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; cytoskeleton-dependent intracellular transport [GO:0030705]; microtubule-based movement [GO:0007018]; mitochondrion organization [GO:0007005]; organelle transport along microtubule [GO:0072384]

location:
SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.


uniprotID: Q9NQX7
geneSymbol: ITM2C
length: 267
go: ENSG00000135916;
snps: rs2289235
name:
Integral membrane protein 2C (Cerebral protein 14) (Transmembrane protein BRI3) [Cleaved into: CT-BRI3]

sequence:

opentargets:
extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; amyloid-beta binding [GO:0001540]; ATP binding [GO:0005524]; negative regulation of amyloid precursor protein biosynthetic process [GO:0042985]; negative regulation of neuron projection development [GO:0010977]; neuron differentiation [GO:0030182]; positive regulation of extrinsic apoptotic signaling pathway [GO:2001238]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NQX7-1; Sequence=Displayed; Name=2; IsoId=Q9NQX7-2; Sequence=VSP_013471; Name=3; IsoId=Q9NQX7-3; Sequence=VSP_013472; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}. Cell membrane {ECO:0000269|PubMed:19114711}; Single-pass type II membrane protein {ECO:0000269|PubMed:19114711}.


uniprotID: P13612
geneSymbol: ITGA4
reactome: R-HSA-198933;R-HSA-202733;R-HSA-216083;R-HSA-8949275;
pdb: 3V4P;3V4V;4HKC;5C7Z;5FPI;
length: 1032
go: ENSG00000115232;
drug: DB04997;DB05092;DB05802;DB00108;DB05122;DB05468;DB06822;DB09033;
snps: rs35322532 rs1143675 rs1143676
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Integrin alpha-4 (CD49 antigen-like family member D) (Integrin alpha-IV) (VLA-4 subunit alpha) (CD antigen CD49d)

sequence:

opentargets:
cell surface [GO:0009986]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; growth cone [GO:0030426]; integrin alpha4-beta7 complex [GO:0034669]; membrane [GO:0016020]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; cell adhesion molecule binding [GO:0050839]; coreceptor activity [GO:0015026]; fibronectin binding [GO:0001968]; metal ion binding [GO:0046872]; protein antigen binding [GO:1990405]; axonogenesis involved in innervation [GO:0060385]; B cell differentiation [GO:0030183]; cell-matrix adhesion [GO:0007160]; cell-matrix adhesion involved in ameboidal cell migration [GO:0003366]; cellular response to cytokine stimulus [GO:0071345]; clathrin-dependent extracellular exosome endocytosis [GO:1990771]; diapedesis [GO:0050904]; endodermal cell differentiation [GO:0035987]; extracellular matrix organization [GO:0030198]; heterotypic cell-cell adhesion [GO:0034113]; integrin-mediated signaling pathway [GO:0007229]; leukocyte cell-cell adhesion [GO:0007159]; leukocyte migration [GO:0050900]; leukocyte tethering or rolling [GO:0050901]; negative regulation of protein homodimerization activity [GO:0090074]; neuron projection extension [GO:1990138]; positive regulation of endothelial cell apoptotic process [GO:2000353]; positive regulation of leukocyte tethering or rolling [GO:1903238]; positive regulation of T cell migration [GO:2000406]; positive regulation of vascular endothelial cell proliferation [GO:1905564]; receptor clustering [GO:0043113]; regulation of immune response [GO:0050776]; substrate adhesion-dependent cell spreading [GO:0034446]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P13612-1; Sequence=Displayed; Name=2; IsoId=P13612-2; Sequence=VSP_056612, VSP_056613; Note=No experimental confirmation available.; 


uniprotID: Q8NHY5
geneSymbol: HUS1B
name: Checkpoint protein HUS1B (hHUS1B)
length: 278
go: ENSG00000188996;
snps: rs1766848 rs17136239 rs1211554
sequence:

opentargets:
checkpoint clamp complex [GO:0030896]; nucleolus [GO:0005730]; site of double-strand break [GO:0035861]; double-strand break repair via homologous recombination [GO:0000724]; intra-S DNA damage checkpoint [GO:0031573]; meiotic DNA integrity checkpoint [GO:0044778]; mitotic DNA replication checkpoint [GO:0033314]; nucleotide-excision repair [GO:0006289]


uniprotID: Q9H1H9
geneSymbol: KIF13A
reactome: R-HSA-390471;
name: Kinesin-like protein KIF13A (Kinesin-like protein RBKIN)
length: 1805
go: ENSG00000137177;
snps: rs17689215 rs12211658
sequence:

opentargets:
centrosome [GO:0005813]; endosome membrane [GO:0010008]; kinesin complex [GO:0005871]; microtubule [GO:0005874]; midbody [GO:0030496]; trans-Golgi network membrane [GO:0032588]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; cargo loading into vesicle [GO:0035459]; cell cycle [GO:0007049]; cell division [GO:0051301]; endosome to lysosome transport [GO:0008333]; Golgi to plasma membrane protein transport [GO:0043001]; intracellular protein transport [GO:0006886]; melanosome organization [GO:0032438]; microtubule-based movement [GO:0007018]; plus-end-directed vesicle transport along microtubule [GO:0072383]; regulation of cytokinesis [GO:0032465]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=RBKIN1; IsoId=Q9H1H9-1; Sequence=Displayed; Name=2; Synonyms=RBKIN2; IsoId=Q9H1H9-2; Sequence=VSP_002870; Name=3; IsoId=Q9H1H9-3; Sequence=VSP_021724, VSP_002870, VSP_021725, VSP_021726; Name=4; IsoId=Q9H1H9-4; Sequence=VSP_021724, VSP_002870; Name=5; IsoId=Q9H1H9-5; Sequence=VSP_045584, VSP_045585; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Midbody. Endosome membrane. Golgi apparatus membrane {ECO:0000250}. Note=Recruited to the midbody during cytokinesis.


uniprotID: Q96L93
geneSymbol: KIF16B
reactome: R-HSA-6811434;R-HSA-983189;
pdb: 2V14;6EE0;
name: Kinesin-like protein KIF16B (Sorting nexin-23)
length: 1317
go: ENSG00000089177;
snps: rs2236145 rs2236144 rs8116503 rs6034464 rs8123195
sequence:

opentargets:
cytosol [GO:0005829]; early endosome [GO:0005769]; early endosome membrane [GO:0031901]; endosome [GO:0005768]; kinesin complex [GO:0005871]; microtubule [GO:0005874]; phagocytic vesicle [GO:0045335]; ATP binding [GO:0005524]; ATP-dependent microtubule motor activity, plus-end-directed [GO:0008574]; ATPase activity [GO:0016887]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; phosphatidylinositol-3,4,5-trisphosphate binding [GO:0005547]; phosphatidylinositol-3,4-bisphosphate binding [GO:0043325]; phosphatidylinositol-3,5-bisphosphate binding [GO:0080025]; phosphatidylinositol-3-phosphate binding [GO:0032266]; Rab GTPase binding [GO:0017137]; cellular response to interferon-gamma [GO:0071346]; early endosome to late endosome transport [GO:0045022]; endoderm development [GO:0007492]; epidermal growth factor receptor signaling pathway [GO:0007173]; fibroblast growth factor receptor signaling pathway [GO:0008543]; formation of primary germ layer [GO:0001704]; Golgi to endosome transport [GO:0006895]; microtubule-based movement [GO:0007018]; receptor catabolic process [GO:0032801]; regulation of receptor recycling [GO:0001919]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q96L93-1; Sequence=Displayed; Name=2; IsoId=Q96L93-2; Sequence=VSP_010851; Name=3; IsoId=Q96L93-4; Sequence=VSP_010852; Note=No experimental confirmation available.; Name=4; IsoId=Q96L93-5; Sequence=VSP_015858; Note=No experimental confirmation available.; Name=5; IsoId=Q96L93-6; Sequence=VSP_041318; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305}. Early endosome membrane. Note=It is unclear whether association with endosomes is mediated via phosphatidylinositol 3-phosphate (PtdIns(3)P)-binding or via its interaction with RAB14.


uniprotID: Q8NI77
geneSymbol: KIF18A
pdb: 3LRE;5OAM;5OCU;5OGC;
name: Kinesin-like protein KIF18A (Marrow stromal KIF18A) (MS-KIF18A)
length: 898
go: ENSG00000121621;
snps: rs12272419 rs34913484 rs10458896
reactome:
R-HSA-141444;R-HSA-2132295;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-6811434;R-HSA-68877;R-HSA-983189;

sequence:

opentargets:
caveola [GO:0005901]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; kinesin complex [GO:0005871]; kinetochore [GO:0000776]; kinetochore microtubule [GO:0005828]; microtubule [GO:0005874]; microtubule cytoskeleton [GO:0015630]; microtubule organizing center [GO:0005815]; mitotic spindle astral microtubule [GO:0061673]; mitotic spindle midzone [GO:1990023]; nucleus [GO:0005634]; ruffle [GO:0001726]; actin binding [GO:0003779]; ATP binding [GO:0005524]; ATP-dependent microtubule motor activity, plus-end-directed [GO:0008574]; ATPase activity [GO:0016887]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; microtubule plus-end binding [GO:0051010]; tubulin-dependent ATPase activity [GO:0070463]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; cellular response to estradiol stimulus [GO:0071392]; male meiotic nuclear division [GO:0007140]; microtubule depolymerization [GO:0007019]; microtubule-based movement [GO:0007018]; mitotic metaphase plate congression [GO:0007080]; mitotic sister chromatid segregation [GO:0000070]; protein transport [GO:0015031]; regulation of microtubule cytoskeleton organization [GO:0070507]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]; seminiferous tubule development [GO:0072520]

location:
SUBCELLULAR LOCATION: Cell projection, ruffle. Cytoplasm. Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.


uniprotID: P43630
geneSymbol: KIR3DL2
reactome: R-HSA-198933;
length: 455
go: ENSG00000240403;
snps: rs3188286 rs633870 rs1048271 rs3745902 rs3745903
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
name:
Killer cell immunoglobulin-like receptor 3DL2 (CD158 antigen-like family member K) (MHC class I NK cell receptor) (Natural killer-associated transcript 4) (NKAT-4) (p70 natural killer cell receptor clone CL-5) (p70 NK receptor CL-5) (CD antigen CD158k)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; cellular defense response [GO:0006968]; regulation of immune response [GO:0050776]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P43630-1; Sequence=Displayed; Name=2; IsoId=P43630-2; Sequence=VSP_047374; 


uniprotID: Q14943
geneSymbol: KIR3DS1
reactome: R-HSA-2172127;
length: 382
go: ENSG00000275434;
snps: rs605219 rs1142881 rs643347 rs375468097 rs2273731 rs680891 rs1049215
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
name:
Killer cell immunoglobulin-like receptor 3DS1 (MHC class I NK cell receptor) (Natural killer-associated transcript 10) (NKAT-10)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; MHC class I receptor activity [GO:0032393]; immune response [GO:0006955]; innate immune response [GO:0045087]; natural killer cell activation [GO:0030101]


uniprotID: Q9Y6Z4
geneSymbol: KIF25-AS1
length: 181
snps: rs9355149 rs2516801 rs9364382
name:
Putative uncharacterized protein KIF25-AS1 (KIF25 antisense RNA 1) (KIF25 antisense gene protein 1) (Protein HGC6.1)

sequence:
MGDIFKNNGVLQGRLRAVACAPHCFGPRLRCLHHDQGLTELAWGTWPHSHPVRHQPQMPSARECCSIVCMAAKEVSAPKAPGSPWMVPGDVAMSGHRVGALDERGHPNPQTGHCRGGSVSVTWSSVSCCRGRLAAVRVMIARDPSTCHLAKGCSPAWGFLPQARGPAGTRTPQRRCSSHEA

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=HGC6.1.1; IsoId=Q9Y6Z4-1; Sequence=Displayed; Name=2; Synonyms=HGC6.1.2; IsoId=Q9Y6Z4-2; Sequence=VSP_007375; 


uniprotID: P86397
geneSymbol: HTD2
reactome: R-HSA-75105;
pdb: 3IR3;
length: 168
go: ENSG00000255154;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:17898086}.
name:
Hydroxyacyl-thioester dehydratase type 2, mitochondrial (HsHTD2) (EC 4.2.1.-) (3-hydroxyacyl-[acyl-carrier-protein] dehydratase)

sequence:
MFPLISSHHLWWGGLRRTVCLNLPVLTLQHFQHMHIKVGDRAELRRAFTQTDVATFSELTGDVNPLHLNEDFAKHTKFGNTIVHGVLINGLISALLGTKMPGPGCVFLSQEISFPAPLYIGEVVLASAEVKKLKRFIAIIAVSCSVIESKKTVMEGWVKVMVPEASKS

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; 3-hydroxyacyl-CoA dehydratase activity [GO:0018812]; fatty acid metabolic process [GO:0006631]; fatty-acyl-CoA biosynthetic process [GO:0046949]


uniprotID: Q96I82
geneSymbol: KAZALD1
name: Kazal-type serine protease inhibitor domain-containing protein 1
length: 304
go: ENSG00000107821;
snps: rs11547671 rs11190812 rs807037 rs36116329
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
sequence:

opentargets:
interstitial matrix [GO:0005614]; insulin-like growth factor binding [GO:0005520]; cell differentiation [GO:0030154]; extracellular matrix organization [GO:0030198]; multicellular organism development [GO:0007275]; ossification [GO:0001503]; regulation of cell growth [GO:0001558]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96I82-1; Sequence=Displayed; Name=2; IsoId=Q96I82-2; Sequence=VSP_014303, VSP_014304; 


uniprotID: Q674X7
geneSymbol: KAZN
reactome: R-HSA-6809371;
name: Kazrin
length: 775
go: ENSG00000189337;
snps: rs10803354 rs12048768
sequence:

opentargets:
cornified envelope [GO:0001533]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; desmosome [GO:0030057]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; cornification [GO:0070268]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q674X7-1; Sequence=Displayed; Name=2; Synonyms=A; IsoId=Q674X7-2; Sequence=VSP_031901, VSP_031903; Name=3; Synonyms=B; IsoId=Q674X7-3; Sequence=VSP_031899, VSP_031901, VSP_031903; Name=4; Synonyms=C, D; IsoId=Q674X7-4; Sequence=VSP_031898, VSP_031901, VSP_031903; Name=5; IsoId=Q674X7-5; Sequence=VSP_031900, VSP_031902; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Cell junction, desmosome. Nucleus. Note=Observed at the apical plasma membrane of keratinocytes. Partially colocalizes with PPL and DP at desmosomes, and with PP at the interdesmosomal plasma membrane. Colocalizes with cortical actin-based membrane structures.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm. Cell junction, desmosome. Nucleus. Note=Observed at the apical plasma membrane of keratinocytes. Partially colocalizes with PPL and DP at desmosomes, and with PP at the interdesmosomal plasma membrane. Colocalizes with cortical actin-based membrane structures.; SUBCELLULAR LOCATION: Isoform 4: Cytoplasm. Cell junction, desmosome. Nucleus. Note=Observed at the apical plasma membrane of keratinocytes. Partially colocalizes with PPL and DP at desmosomes, and with PP at the interdesmosomal plasma membrane. Colocalizes with cortical actin-based membrane structures.


uniprotID: Q99712
geneSymbol: KCNJ15
reactome: R-HSA-1296041;R-HSA-997272;
length: 375
go: ENSG00000157551;
drug: DB01392;
snps: rs3746875 rs199857043 rs2230033
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
ATP-sensitive inward rectifier potassium channel 15 (Inward rectifier K(+) channel Kir1.3) (Inward rectifier K(+) channel Kir4.2) (Potassium channel, inwardly rectifying subfamily J member 15)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G-protein activated inward rectifier potassium channel activity [GO:0015467]; inward rectifier potassium channel activity [GO:0005242]; potassium ion import [GO:0010107]; potassium ion transport [GO:0006813]; regulation of ion transmembrane transport [GO:0034765]


uniprotID: Q9NPI9
geneSymbol: KCNJ16
reactome: R-HSA-1296041;R-HSA-1296067;R-HSA-997272;
length: 418
go: ENSG00000153822;
snps: rs9302912
name:
Inward rectifier potassium channel 16 (Inward rectifier K(+) channel Kir5.1) (Potassium channel, inwardly rectifying subfamily J member 16)

sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; G-protein activated inward rectifier potassium channel activity [GO:0015467]; inward rectifier potassium channel activity [GO:0005242]; potassium ion import [GO:0010107]; potassium ion transport [GO:0006813]; regulation of ion transmembrane transport [GO:0034765]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:24561201}; Multi-pass membrane protein. Basolateral cell membrane {ECO:0000269|PubMed:24561201}. Note=In kidney distal convoluted tubules, located in the basolateral membrane in the presence of KCNJ10. {ECO:0000269|PubMed:24561201}.


uniprotID: Q12791
geneSymbol: KCNMA1
reactome: R-HSA-1296052;R-HSA-418457;
pdb: 2K44;3MT5;3NAF;
length: 1236
go: ENSG00000156113;
drug: DB00436;DB00356;DB01003;DB01119;DB01159;DB00999;DB00774;DB01110;DB00721;
snps: rs137853333 rs886039469
name:
Calcium-activated potassium channel subunit alpha-1 (BK channel) (BKCA alpha) (Calcium-activated potassium channel, subfamily M subunit alpha-1) (K(VCA)alpha) (KCa1.1) (Maxi K channel) (MaxiK) (Slo-alpha) (Slo1) (Slowpoke homolog) (Slo homolog) (hSlo)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; caveola [GO:0005901]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; voltage-gated potassium channel complex [GO:0008076]; actin binding [GO:0003779]; calcium-activated potassium channel activity [GO:0015269]; identical protein binding [GO:0042802]; large conductance calcium-activated potassium channel activity [GO:0060072]; metal ion binding [GO:0046872]; outward rectifier potassium channel activity [GO:0015271]; voltage-gated potassium channel activity [GO:0005249]; cellular potassium ion homeostasis [GO:0030007]; micturition [GO:0060073]; negative regulation of cell volume [GO:0045794]; positive regulation of apoptotic process [GO:0043065]; potassium ion transport [GO:0006813]; regulation of ion transmembrane transport [GO:0034765]; regulation of membrane potential [GO:0042391]; response to calcium ion [GO:0051592]; response to carbon monoxide [GO:0034465]; response to hypoxia [GO:0001666]; response to osmotic stress [GO:0006970]; smooth muscle contraction involved in micturition [GO:0060083]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Comment=May be partially controlled by hormonal stress. Additional isoforms seem to exist.; Name=1; Synonyms=SAKCA; IsoId=Q12791-1; Sequence=Displayed; Name=2; Synonyms=BKTM; IsoId=Q12791-2; Sequence=VSP_009955, VSP_009958; Name=3; IsoId=Q12791-3; Sequence=VSP_009954; Name=4; Synonyms=hbr5; IsoId=Q12791-4; Sequence=VSP_009956; Name=5; IsoId=Q12791-5; Sequence=VSP_009955; Name=6; IsoId=Q12791-6; Sequence=VSP_009952, VSP_009953; Note=No experimental confirmation available.; Name=7; Synonyms=gBK; IsoId=Q12791-7; Sequence=VSP_009957; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:20693285, ECO:0000269|PubMed:22399288}; Multi-pass membrane protein {ECO:0000269|PubMed:20693285, ECO:0000269|PubMed:22399288}.


uniprotID: Q16558
geneSymbol: KCNMB1
reactome: R-HSA-1296052;R-HSA-418457;
length: 191
go: ENSG00000145936;
drug: DB01110;DB00721;
snps: rs11739136 rs2301149
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Calcium-activated potassium channel subunit beta-1 (BK channel subunit beta-1) (BKbeta) (BKbeta1) (Hbeta1) (Calcium-activated potassium channel, subfamily M subunit beta-1) (Calcium-activated potassium channel subunit beta) (Charybdotoxin receptor subunit beta-1) (K(VCA)beta-1) (Maxi K channel subunit beta-1) (Slo-beta-1) (Slo-beta)

sequence:
MVKKLVMAQKRGETRALCLGVTMVVCAVITYYILVTTVLPLYQKSVWTQESKCHLIETNIRDQEELKGKKVPQYPCLWVNVSAAGRWAVLYHTEDTRDQNQQCSYIPGSVDNYQTARADVEKVRAKFQEQQVFYCFSAPRGNETSVLFQRLYGPQALLFSLFWPTFLLTGGLLIIAMVKSNQYLSILAAQK

opentargets:
plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; calcium-activated potassium channel activity [GO:0015269]; potassium channel regulator activity [GO:0015459]; aging [GO:0007568]; cellular response to bile acid [GO:1903413]; cellular response to ethanol [GO:0071361]; cellular response to hypoxia [GO:0071456]; chemical synaptic transmission [GO:0007268]; detection of calcium ion [GO:0005513]; positive regulation of blood vessel diameter [GO:0097755]; positive regulation of potassium ion transmembrane transport [GO:1901381]; potassium ion transport [GO:0006813]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q16558-1; Sequence=Displayed; Name=2; IsoId=Q16558-2; Sequence=VSP_009822, VSP_009823; Note=No experimental confirmation available.; 


uniprotID: Q09470
geneSymbol: KCNA1
reactome: R-HSA-1296072;
pdb: 2AFL;
length: 495
go: ENSG00000111262;
drug: DB00321;DB06637;DB01189;DB00228;DB00753;DB01028;DB01115;DB01236;
name:
Potassium voltage-gated channel subfamily A member 1 (Voltage-gated K(+) channel HuKI) (Voltage-gated potassium channel HBK1) (Voltage-gated potassium channel subunit Kv1.1)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; axon [GO:0030424]; axon terminus [GO:0043679]; calyx of Held [GO:0044305]; cell junction [GO:0030054]; cell surface [GO:0009986]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; dendrite [GO:0030425]; endoplasmic reticulum [GO:0005783]; glutamatergic synapse [GO:0098978]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic membrane [GO:0099055]; integral component of presynaptic membrane [GO:0099056]; juxtaparanode region of axon [GO:0044224]; neuronal cell body [GO:0043025]; paranode region of axon [GO:0033270]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; presynaptic membrane [GO:0042734]; synapse [GO:0045202]; voltage-gated potassium channel complex [GO:0008076]; delayed rectifier potassium channel activity [GO:0005251]; disordered domain specific binding [GO:0097718]; potassium channel activity [GO:0005267]; potassium ion transmembrane transporter activity [GO:0015079]; voltage-gated ion channel activity involved in regulation of postsynaptic membrane potential [GO:1905030]; voltage-gated ion channel activity involved in regulation of presynaptic membrane potential [GO:0099508]; voltage-gated potassium channel activity [GO:0005249]; cell communication by electrical coupling [GO:0010644]; cellular protein localization [GO:0034613]; cellular response to magnesium ion [GO:0071286]; chemical synaptic transmission [GO:0007268]; detection of mechanical stimulus involved in sensory perception of pain [GO:0050966]; detection of mechanical stimulus involved in sensory perception of touch [GO:0050976]; hippocampus development [GO:0021766]; magnesium ion homeostasis [GO:0010960]; neuroblast proliferation [GO:0007405]; neuromuscular process [GO:0050905]; neuronal action potential [GO:0019228]; neuronal signal transduction [GO:0023041]; positive regulation of voltage-gated potassium channel activity [GO:1903818]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]; protein homooligomerization [GO:0051260]; regulation of membrane potential [GO:0042391]; regulation of muscle contraction [GO:0006937]; startle response [GO:0001964]

snps:
rs104894349 rs104894357 rs2229000 rs104894354 rs28933383 rs28933383 rs28933383 rs104894348 rs28933381 rs28933382 rs104894356 rs121918067 rs104894353 rs104894355 rs104894352 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12077175, ECO:0000269|PubMed:15837928, ECO:0000269|PubMed:17136396, ECO:0000269|PubMed:17156368, ECO:0000269|PubMed:19307729, ECO:0000269|PubMed:19903818, ECO:0000269|PubMed:19912772, ECO:0000269|PubMed:19968958, ECO:0000269|PubMed:23903368}; Multi-pass membrane protein {ECO:0000305}. Membrane {ECO:0000269|PubMed:11086297}. Cell projection, axon {ECO:0000269|PubMed:11086297}. Cytoplasmic vesicle {ECO:0000269|PubMed:23774215}. Perikaryon {ECO:0000250|UniProtKB:P10499}. Endoplasmic reticulum {ECO:0000250|UniProtKB:P10499}. Cell projection, dendrite {ECO:0000250|UniProtKB:P16388}. Cell junction {ECO:0000250|UniProtKB:P16388}. Cell junction, synapse {ECO:0000250|UniProtKB:P16388}. Cell junction, synapse, presynaptic cell membrane {ECO:0000250|UniProtKB:P10499}. Note=Homotetrameric KCNA1 is primarily located in the endoplasmic reticulum. Interaction with KCNA2 and KCNAB2 or with KCNA4 and KCNAB2 promotes expression at the cell membrane (By similarity). Detected at axon terminals (By similarity). {ECO:0000250|UniProtKB:P10499, ECO:0000250|UniProtKB:P16388}.


uniprotID: P16389
geneSymbol: KCNA2
reactome: R-HSA-1296072;
length: 499
go: ENSG00000177301;
drug: DB06637;
snps: rs786205231 rs786205232 rs876657390 rs876657389
name:
Potassium voltage-gated channel subfamily A member 2 (NGK1) (Voltage-gated K(+) channel HuKIV) (Voltage-gated potassium channel HBK5) (Voltage-gated potassium channel subunit Kv1.2)

sequence:

opentargets:
axon [GO:0030424]; axon terminus [GO:0043679]; calyx of Held [GO:0044305]; dendrite [GO:0030425]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; integral component of presynaptic membrane [GO:0099056]; juxtaparanode region of axon [GO:0044224]; lamellipodium [GO:0030027]; lamellipodium membrane [GO:0031258]; neuronal cell body membrane [GO:0032809]; paranodal junction [GO:0033010]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; delayed rectifier potassium channel activity [GO:0005251]; kinesin binding [GO:0019894]; outward rectifier potassium channel activity [GO:0015271]; potassium channel activity [GO:0005267]; voltage-gated potassium channel activity [GO:0005249]; neuronal action potential [GO:0019228]; optic nerve structural organization [GO:0021633]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]; protein homooligomerization [GO:0051260]; regulation of circadian sleep/wake cycle, non-REM sleep [GO:0045188]; regulation of dopamine secretion [GO:0014059]; regulation of ion transmembrane transport [GO:0034765]; sensory perception of pain [GO:0019233]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P16389-1; Sequence=Displayed; Name=2; IsoId=P16389-2; Sequence=VSP_043077; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11211111, ECO:0000269|PubMed:19912772, ECO:0000269|PubMed:20220134, ECO:0000269|PubMed:23769686, ECO:0000269|PubMed:8495559}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P63142, ECO:0000305}. Membrane {ECO:0000250|UniProtKB:P63142}. Cell projection, axon {ECO:0000269|PubMed:16473933}. Cell junction, synapse {ECO:0000250|UniProtKB:P63142}. Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:P63142}. Cell projection, lamellipodium membrane {ECO:0000250|UniProtKB:P63142}. Cell junction, synapse, synaptosome {ECO:0000250|UniProtKB:P63141}. Cell junction, synapse, presynaptic cell membrane {ECO:0000250|UniProtKB:P63141}. Cell projection, dendrite {ECO:0000250|UniProtKB:P63141}. Cell junction, paranodal septate junction {ECO:0000250|UniProtKB:P63141}. Note=KCNA2 by itself is detected both at the endoplasmic reticulum and at the cell membrane. Coexpression with KCNA4 or with beta subunits promotes expression at the cell membrane. Coexpression with KCNA1 inhibits cell surface expression. In myelinated peripheral axons, clustered in the juxtaparadonal region and at an internodal line located along the mesaxon and below the Schmidt-Lanterman incisures (By similarity). {ECO:0000250|UniProtKB:P63141, ECO:0000250|UniProtKB:P63142}.


uniprotID: P22001
geneSymbol: KCNA3
reactome: R-HSA-1296072;
pdb: 4BGC;
length: 575
go: ENSG00000177272;
drug: DB06637;
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein.
name:
Potassium voltage-gated channel subfamily A member 3 (HGK5) (HLK3) (HPCN3) (Voltage-gated K(+) channel HuKIII) (Voltage-gated potassium channel subunit Kv1.3)

sequence:

opentargets:
axon [GO:0030424]; calyx of Held [GO:0044305]; glutamatergic synapse [GO:0098978]; integral component of membrane [GO:0016021]; integral component of postsynaptic membrane [GO:0099055]; integral component of presynaptic membrane [GO:0099056]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; delayed rectifier potassium channel activity [GO:0005251]; outward rectifier potassium channel activity [GO:0015271]; voltage-gated ion channel activity [GO:0005244]; voltage-gated potassium channel activity [GO:0005249]; potassium ion export [GO:0071435]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]; protein homooligomerization [GO:0051260]; regulation of ion transmembrane transport [GO:0034765]


uniprotID: P22459
geneSymbol: KCNA4
reactome: R-HSA-1296072;
length: 653
go: ENSG00000182255;
drug: DB02299;DB06637;
name:
Potassium voltage-gated channel subfamily A member 4 (HPCN2) (Voltage-gated K(+) channel HuKII) (Voltage-gated potassium channel HBK4) (Voltage-gated potassium channel HK1) (Voltage-gated potassium channel subunit Kv1.4)

sequence:

opentargets:
axon [GO:0030424]; dendritic spine [GO:0043197]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; delayed rectifier potassium channel activity [GO:0005251]; potassium ion binding [GO:0030955]; voltage-gated potassium channel activity [GO:0005249]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]; protein homooligomerization [GO:0051260]; regulation of ion transmembrane transport [GO:0034765]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17156368, ECO:0000269|PubMed:19912772, ECO:0000269|PubMed:19968958, ECO:0000269|PubMed:8495559}; Multi-pass membrane protein {ECO:0000255}. Cell projection, axon {ECO:0000250|UniProtKB:P15385}.


uniprotID: P22460
geneSymbol: KCNA5
reactome: R-HSA-1296072;
length: 613
go: ENSG00000130037;
drug: DB06637;
snps: rs1056464 rs148708451 rs12720445
name:
Potassium voltage-gated channel subfamily A member 5 (HPCN1) (Voltage-gated potassium channel HK2) (Voltage-gated potassium channel subunit Kv1.5)

sequence:

opentargets:
cell surface [GO:0009986]; endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; intercalated disc [GO:0014704]; intracellular canaliculus [GO:0046691]; membrane raft [GO:0045121]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; potassium channel complex [GO:0034705]; voltage-gated potassium channel complex [GO:0008076]; Z disc [GO:0030018]; alpha-actinin binding [GO:0051393]; delayed rectifier potassium channel activity [GO:0005251]; outward rectifier potassium channel activity [GO:0015271]; protein kinase binding [GO:0019901]; scaffold protein binding [GO:0097110]; signaling receptor binding [GO:0005102]; voltage-gated potassium channel activity [GO:0005249]; voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization [GO:0086089]; voltage-gated potassium channel activity involved in bundle of His cell action potential repolarization [GO:0086087]; voltage-gated potassium channel activity involved in SA node cell action potential repolarization [GO:0086090]; atrial cardiac muscle cell action potential [GO:0086014]; membrane hyperpolarization [GO:0060081]; membrane repolarization during atrial cardiac muscle cell action potential [GO:0098914]; membrane repolarization during bundle of His cell action potential [GO:0086050]; membrane repolarization during SA node cell action potential [GO:0086052]; negative regulation of cytosolic calcium ion concentration [GO:0051481]; Notch signaling pathway [GO:0007219]; positive regulation of G1/S transition of mitotic cell cycle [GO:1900087]; positive regulation of myoblast proliferation [GO:2000288]; potassium ion export [GO:0071435]; potassium ion homeostasis [GO:0055075]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]; protein homooligomerization [GO:0051260]; regulation of atrial cardiac muscle cell membrane repolarization [GO:0060372]; regulation of heart rate by cardiac conduction [GO:0086091]; regulation of insulin secretion [GO:0050796]; regulation of membrane potential [GO:0042391]; regulation of potassium ion transport [GO:0043266]; regulation of vasoconstriction [GO:0019229]; response to hydrogen peroxide [GO:0042542]; response to hyperoxia [GO:0055093]; response to hypoxia [GO:0001666]; response to mechanical stimulus [GO:0009612]; response to organic substance [GO:0010033]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P22460-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P22460-2; Sequence=VSP_037110; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12130714, ECO:0000269|PubMed:8505626}; Multi-pass membrane protein {ECO:0000305}.


uniprotID: P17658
geneSymbol: KCNA6
reactome: R-HSA-1296072;
length: 529
go: ENSG00000130035;ENSG00000151079;
drug: DB06637;
name:
Potassium voltage-gated channel subfamily A member 6 (Voltage-gated potassium channel HBK2) (Voltage-gated potassium channel subunit Kv1.6)

sequence:

opentargets:
axon terminus [GO:0043679]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; potassium channel complex [GO:0034705]; voltage-gated potassium channel complex [GO:0008076]; delayed rectifier potassium channel activity [GO:0005251]; voltage-gated potassium channel activity [GO:0005249]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]; protein homooligomerization [GO:0051260]; regulation of ion transmembrane transport [GO:0034765]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:14575698, ECO:0000269|PubMed:2347305}; Multi-pass membrane protein {ECO:0000305}.


uniprotID: Q96RP8
geneSymbol: KCNA7
reactome: R-HSA-1296072;
length: 456
go: ENSG00000104848;
drug: DB06637;
snps: rs1611775 rs1017219
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
name:
Potassium voltage-gated channel subfamily A member 7 (Voltage-gated potassium channel subunit Kv1.7)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; delayed rectifier potassium channel activity [GO:0005251]; voltage-gated potassium channel activity [GO:0005249]; potassium ion transmembrane transport [GO:0071805]; protein homooligomerization [GO:0051260]; regulation of ion transmembrane transport [GO:0034765]


uniprotID: Q14721
geneSymbol: KCNB1
reactome: R-HSA-1296072;R-HSA-381676;
length: 858
go: ENSG00000158445;
drug: DB06637;
snps: rs587777848 rs587777849 rs587777850 rs2229006 rs2229006 rs34467662 rs34280195
name:
Potassium voltage-gated channel subfamily B member 1 (Delayed rectifier potassium channel 1) (DRK1) (h-DRK1) (Voltage-gated potassium channel subunit Kv2.1)

sequence:

opentargets:
axon [GO:0030424]; cell junction [GO:0030054]; dendrite [GO:0030425]; dendrite membrane [GO:0032590]; integral component of membrane [GO:0016021]; lateral plasma membrane [GO:0016328]; neuronal cell body membrane [GO:0032809]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; sarcolemma [GO:0042383]; voltage-gated potassium channel complex [GO:0008076]; delayed rectifier potassium channel activity [GO:0005251]; ion channel binding [GO:0044325]; protein heterodimerization activity [GO:0046982]; voltage-gated potassium channel activity [GO:0005249]; action potential [GO:0001508]; cellular response to glucose stimulus [GO:0071333]; cellular response to nutrient levels [GO:0031669]; glucose homeostasis [GO:0042593]; glutamate receptor signaling pathway [GO:0007215]; negative regulation of insulin secretion [GO:0046676]; positive regulation of calcium ion-dependent exocytosis [GO:0045956]; positive regulation of catecholamine secretion [GO:0033605]; positive regulation of long-term synaptic depression [GO:1900454]; positive regulation of norepinephrine secretion [GO:0010701]; positive regulation of protein targeting to membrane [GO:0090314]; potassium ion transmembrane transport [GO:0071805]; protein homooligomerization [GO:0051260]; protein localization to plasma membrane [GO:0072659]; regulation of action potential [GO:0098900]; regulation of insulin secretion [GO:0050796]; regulation of ion transmembrane transport [GO:0034765]; regulation of motor neuron apoptotic process [GO:2000671]; vesicle docking involved in exocytosis [GO:0006904]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10484328, ECO:0000269|PubMed:11852086, ECO:0000269|PubMed:12060745, ECO:0000269|PubMed:12560340, ECO:0000269|PubMed:1283219, ECO:0000269|PubMed:19074135, ECO:0000269|PubMed:19223394, ECO:0000269|PubMed:19717558, ECO:0000269|PubMed:24477962, ECO:0000269|PubMed:24901643, ECO:0000269|PubMed:26503721, ECO:0000269|PubMed:8081723}. Perikaryon {ECO:0000269|PubMed:24477962}. Cell projection, axon {ECO:0000269|PubMed:24477962}. Cell projection, dendrite {ECO:0000269|PubMed:24477962}. Membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250|UniProtKB:P15387}. Cell junction, synapse {ECO:0000250|UniProtKB:P15387}. Cell junction, synapse, synaptosome {ECO:0000250|UniProtKB:P15387}. Lateral cell membrane {ECO:0000250|UniProtKB:P15387}. Cell membrane, sarcolemma {ECO:0000250|UniProtKB:P15387}. Note=Localizes to high-density somatodendritic clusters and non-clustered sites on the surface of neocortical and hippocampal pyramidal neurons in a cortical actin cytoskeleton-dependent manner (PubMed:24477962). Localizes also to high-density clusters in the axon initial segment (AIS), at ankyrin-G-deficient sites, on the surface of neocortical and hippocampal pyramidal neurons (PubMed:24477962). KCNB1-containing AIS clusters localize either in close apposition to smooth endoplasmic reticulum cisternal organelles or with GABA-A receptor-containing synapses of hippocampal and cortical pyramidal neurons, respectively (PubMed:24477962). Localizes to high-density clusters on the cell surface of atrial and ventricular myocytes and at the lateral plasma membrane in epithelial cells. Localizes both to the axial and transverse tubules (T tubule) and sarcolemma in ventricular myocytes. Associated with lipid raft domains. In cortical neurons, apoptotic injuries induce de novo plasma membrane insertion in a SNARE-dependent manner causing an apoptotic potassium current surge. {ECO:0000250|UniProtKB:P15387, ECO:0000250|UniProtKB:Q03717, ECO:0000269|PubMed:12060745, ECO:0000269|PubMed:19074135, ECO:0000269|PubMed:24477962, ECO:0000269|PubMed:24901643}.


uniprotID: Q92953
geneSymbol: KCNB2
reactome: R-HSA-1296072;
length: 911
go: ENSG00000182674;
drug: DB06637;
snps: rs770305852 rs16938507
name:
Potassium voltage-gated channel subfamily B member 2 (Voltage-gated potassium channel subunit Kv2.2)

sequence:

opentargets:
dendrite [GO:0030425]; integral component of membrane [GO:0016021]; neuronal cell body [GO:0043025]; neuronal cell body membrane [GO:0032809]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; delayed rectifier potassium channel activity [GO:0005251]; protein heterodimerization activity [GO:0046982]; voltage-gated potassium channel activity [GO:0005249]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]; protein homooligomerization [GO:0051260]; protein localization to plasma membrane [GO:0072659]; regulation of ion transmembrane transport [GO:0034765]; regulation of smooth muscle contraction [GO:0006940]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q63099}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q63099}. Perikaryon {ECO:0000250|UniProtKB:Q63099}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q63099}. Note=Localized uniformly throughout cell bodies and dendrites. Colocalizes with KCNB1 to high-density somatodendritic clusters on cortical pyramidal neurons. {ECO:0000250|UniProtKB:Q63099}.


uniprotID: P48547
geneSymbol: KCNC1
reactome: R-HSA-1296072;
length: 511
go: ENSG00000129159;
drug: DB06637;
snps: rs727502818
name:
Potassium voltage-gated channel subfamily C member 1 (NGK2) (Voltage-gated potassium channel subunit Kv3.1) (Voltage-gated potassium channel subunit Kv4)

sequence:

opentargets:
axolemma [GO:0030673]; axon [GO:0030424]; calyx of Held [GO:0044305]; cell surface [GO:0009986]; dendrite membrane [GO:0032590]; integral component of membrane [GO:0016021]; integral component of postsynaptic membrane [GO:0099055]; integral component of presynaptic membrane [GO:0099056]; neuronal cell body [GO:0043025]; neuronal cell body membrane [GO:0032809]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; delayed rectifier potassium channel activity [GO:0005251]; ion channel binding [GO:0044325]; kinesin binding [GO:0019894]; voltage-gated ion channel activity involved in regulation of presynaptic membrane potential [GO:0099508]; voltage-gated potassium channel activity [GO:0005249]; cellular response to drug [GO:0035690]; cerebellum development [GO:0021549]; globus pallidus development [GO:0021759]; positive regulation of voltage-gated potassium channel activity [GO:1903818]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]; protein homooligomerization [GO:0051260]; protein tetramerization [GO:0051262]; response to amine [GO:0014075]; response to auditory stimulus [GO:0010996]; response to fibroblast growth factor [GO:0071774]; response to light intensity [GO:0009642]; response to nerve growth factor [GO:1990089]; response to potassium ion [GO:0035864]; response to toxic substance [GO:0009636]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P48547-1; Sequence=Displayed; Name=2; IsoId=P48547-2; Sequence=VSP_055129; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:25401298}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q96PR1
geneSymbol: KCNC2
reactome: R-HSA-1296072;R-HSA-381676;
length: 638
go: ENSG00000166006;
drug: DB06637;
name:
Potassium voltage-gated channel subfamily C member 2 (Shaw-like potassium channel) (Voltage-gated potassium channel Kv3.2)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; axolemma [GO:0030673]; axon [GO:0030424]; basolateral plasma membrane [GO:0016323]; cell junction [GO:0030054]; dendrite [GO:0030425]; dendrite membrane [GO:0032590]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; membrane [GO:0016020]; neuronal cell body [GO:0043025]; neuronal cell body membrane [GO:0032809]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; presynaptic membrane [GO:0042734]; synapse [GO:0045202]; terminal bouton [GO:0043195]; vesicle [GO:0031982]; voltage-gated potassium channel complex [GO:0008076]; delayed rectifier potassium channel activity [GO:0005251]; ion channel binding [GO:0044325]; voltage-gated ion channel activity involved in regulation of presynaptic membrane potential [GO:0099508]; voltage-gated potassium channel activity [GO:0005249]; cellular response to ammonium ion [GO:0071242]; cellular response to nitric oxide [GO:0071732]; cellular response to toxic substance [GO:0097237]; globus pallidus development [GO:0021759]; nitric oxide-cGMP-mediated signaling pathway [GO:0038060]; positive regulation of voltage-gated potassium channel activity [GO:1903818]; potassium ion transmembrane transport [GO:0071805]; protein heterooligomerization [GO:0051291]; protein homooligomerization [GO:0051260]; regulation of insulin secretion [GO:0050796]; response to amine [GO:0014075]; response to ethanol [GO:0045471]; response to light intensity [GO:0009642]; response to magnesium ion [GO:0032026]; response to nerve growth factor [GO:1990089]; response to organic cyclic compound [GO:0014070]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=Kv3.2b; IsoId=Q96PR1-1; Sequence=Displayed; Name=2; Synonyms=Kv3.2d; IsoId=Q96PR1-2; Sequence=VSP_029271; Name=3; Synonyms=Kv3.2a; IsoId=Q96PR1-3; Sequence=VSP_029272; Name=4; Synonyms=Kv3.2c; IsoId=Q96PR1-4; Sequence=VSP_029269, VSP_029270; Name=5; IsoId=Q96PR1-5; Sequence=VSP_044742; Note=No experimental confirmation available.; Name=6; IsoId=Q96PR1-6; Sequence=VSP_046002; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15709110}; Multi-pass membrane protein {ECO:0000255}. Membrane {ECO:0000250|UniProtKB:Q14B80}; Multi-pass membrane protein {ECO:0000255}. Perikaryon {ECO:0000250|UniProtKB:Q14B80}. Cell projection, axon {ECO:0000250|UniProtKB:Q14B80}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q14B80}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250|UniProtKB:Q14B80}. Cell junction, synapse, presynaptic cell membrane {ECO:0000250|UniProtKB:Q14B80}. Cell junction, synapse, synaptosome {ECO:0000250|UniProtKB:P22462}. Cell junction, synapse {ECO:0000250|UniProtKB:P22462}. Apical cell membrane {ECO:0000250|UniProtKB:P22462}. Basolateral cell membrane {ECO:0000250|UniProtKB:P22462}. Note=Colocalizes with parvalbumin in globus pallidus neurons. Localizes in thalamocortical axons and synapses. Localizes on the surface of cell somata, proximal dendrites and axonal membranes. Also detected throughout the neuropil. Localized in starburst cell somata and proximal dendrite processes. Colocalized with GABA in presynaptic terminals. Clustered in patches in somatic and proximal dendritic membrane as well as in axons and presnypatic terminals of GABAergic interneurons; some of these patches are found near postsynaptic sites. {ECO:0000250|UniProtKB:P22462, ECO:0000250|UniProtKB:Q14B80}.


