# annotation

uniprotID: O60506
geneSymbol: SYNCRIP
pdb: 2DGU;2MXT;2NBB;
length: 623
go: ENSG00000135316;
name:
Heterogeneous nuclear ribonucleoprotein Q (hnRNP Q) (Glycine- and tyrosine-rich RNA-binding protein) (GRY-RBP) (NS1-associated protein 1) (Synaptotagmin-binding, cytoplasmic RNA-interacting protein)

sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; CRD-mediated mRNA stability complex [GO:0070937]; endoplasmic reticulum [GO:0005783]; GAIT complex [GO:0097452]; histone pre-mRNA 3'end processing complex [GO:0071204]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; poly(A) binding [GO:0008143]; RNA binding [GO:0003723]; cellular response to interferon-gamma [GO:0071346]; CRD-mediated mRNA stabilization [GO:0070934]; mRNA splicing, via spliceosome [GO:0000398]; negative regulation of translation [GO:0017148]; osteoblast differentiation [GO:0001649]; RNA processing [GO:0006396]; RNA splicing [GO:0008380]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=hnRNP Q3; IsoId=O60506-1; Sequence=Displayed; Name=2; Synonyms=hnRNP Q2; IsoId=O60506-2; Sequence=VSP_009583; Note=May be due to a competing donor splice site.; Name=3; Synonyms=hnRNP Q1; IsoId=O60506-3; Sequence=VSP_009584; Note=May be due to a competing donor splice site and to an exon inclusion.; Name=4; IsoId=O60506-4; Sequence=VSP_009583, VSP_009584; Note=May be due to a competing donor splice site and to an exon inclusion. No experimental confirmation available.; Name=5; IsoId=O60506-5; Sequence=VSP_009581, VSP_009582, VSP_009584; Note=May be due to a competing donor splice site and to an exon inclusion.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11574476, ECO:0000269|PubMed:17289661, ECO:0000269|PubMed:19029303}. Microsome {ECO:0000250|UniProtKB:Q7TMK9}. Endoplasmic reticulum {ECO:0000250}. Nucleus {ECO:0000250|UniProtKB:Q7TMK9}. Note=The tyrosine phosphorylated form bound to RNA is found in microsomes (By similarity). Localized in cytoplasmic mRNP granules containing untranslated mRNAs (By similarity). {ECO:0000250|UniProtKB:O43390, ECO:0000250|UniProtKB:Q7TMK9}.; SUBCELLULAR LOCATION: Isoform 1: Nucleus, nucleoplasm {ECO:0000250|UniProtKB:Q7TMK9}. Note=Expressed predominantly in the nucleoplasm. {ECO:0000250|UniProtKB:Q7TMK9}.; SUBCELLULAR LOCATION: Isoform 2: Nucleus, nucleoplasm {ECO:0000250|UniProtKB:Q7TMK9}. Note=Expressed predominantly in the nucleoplasm. {ECO:0000250|UniProtKB:Q7TMK9}.; SUBCELLULAR LOCATION: Isoform 3: Nucleus, nucleoplasm {ECO:0000250|UniProtKB:Q7TMK9}. Note=Expressed predominantly in the nucleoplasm. {ECO:0000250|UniProtKB:Q7TMK9}.


uniprotID: Q9NSB8
geneSymbol: HOMER2
reactome: R-HSA-6794361;
name: Homer protein homolog 2 (Homer-2) (Cupidin)
length: 354
go: ENSG00000103942;
snps: rs864309524 rs7175005 rs17158223
sequence:

opentargets:
apical part of cell [GO:0045177]; cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; glutamatergic synapse [GO:0098978]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; stereocilium tip [GO:0032426]; actin binding [GO:0003779]; G protein-coupled glutamate receptor binding [GO:0035256]; GKAP/Homer scaffold activity [GO:0030160]; protein domain specific binding [GO:0019904]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; behavioral response to cocaine [GO:0048148]; calcium-mediated signaling using intracellular calcium source [GO:0035584]; chemical homeostasis within a tissue [GO:0048875]; G protein-coupled glutamate receptor signaling pathway [GO:0007216]; negative regulation of calcineurin-NFAT signaling cascade [GO:0070885]; negative regulation of interleukin-2 production [GO:0032703]; regulation of G protein-coupled receptor signaling pathway [GO:0008277]; regulation of store-operated calcium entry [GO:2001256]; sensory perception of sound [GO:0007605]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=2b; IsoId=Q9NSB8-1; Sequence=Displayed; Name=2; Synonyms=2a; IsoId=Q9NSB8-2; Sequence=VSP_041731; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:25816005}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Cell junction, synapse. Cell projection, stereocilium {ECO:0000250|UniProtKB:Q9QWW1}. Note=Postsynaptic density of neuronal cells. The stabilization and clustering of the metabotropic glutamate receptors appears to be mediated by isoform 1 and isoform 2 at the cell surface.


uniprotID: P0CJ77
geneSymbol: MTRNR2L10
name: Humanin-like 10 (HN10) (MT-RNR2-like protein 10)
sequence: MTTRGFSCLLLLIREIDLSAKRRI
length: 24
go: ENSG00000256045;
opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; receptor antagonist activity [GO:0048019]; negative regulation of execution phase of apoptosis [GO:1900118]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:Q8IVG9}. Cytoplasm {ECO:0000250|UniProtKB:Q8IVG9}.


uniprotID: Q6H9L7
geneSymbol: ISM2
length: 571
go: ENSG00000100593;
opentargets: extracellular region [GO:0005576]
snps: rs3742728 rs11850175
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Isthmin-2 (Thrombospondin and AMOP domain-containing isthmin-like protein 1) (Thrombospondin type-1 domain-containing protein 3)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q6H9L7-1; Sequence=Displayed; Name=2; IsoId=Q6H9L7-2; Sequence=VSP_028610, VSP_028611; Name=3; IsoId=Q6H9L7-3; Sequence=VSP_028612; Name=4; IsoId=Q6H9L7-4; Sequence=VSP_029679, VSP_029680; Name=5; IsoId=Q6H9L7-5; Sequence=VSP_029681; 


uniprotID: Q96FZ2
geneSymbol: HMCES
pdb: 5KO9;
length: 354
go: ENSG00000183624;
opentargets: DNA binding [GO:0003677]; peptidase activity [GO:0008233]
name:
Embryonic stem cell-specific 5-hydroxymethylcytosine-binding protein (ES cell-specific 5hmC-binding protein) (Putative peptidase SRAPD1) (EC 3.4.-.-) (SRAP domain-containing protein 1)

sequence:


uniprotID: P09601
geneSymbol: HMOX1
reactome: R-HSA-189483;R-HSA-6785807;R-HSA-917937;
name: Heme oxygenase 1 (HO-1) (EC 1.14.14.18)
length: 288
go: ENSG00000100292;
drug: DB07342;DB02468;DB03906;DB02073;DB01942;DB00157;DB04912;DB04803;DB00163;
snps: rs2071747 rs9282702
pdb:
1N3U;1N45;1NI6;1OYK;1OYL;1OZE;1OZL;1OZR;1OZW;1S13;1S8C;1T5P;1TWN;1TWR;1XJZ;1XK0;1XK1;1XK2;1XK3;3CZY;3HOK;3K4F;3TGM;4WD4;5BTQ;

sequence:

opentargets:
caveola [GO:0005901]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; extracellular space [GO:0005615]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; enzyme binding [GO:0019899]; heme binding [GO:0020037]; heme oxygenase (decyclizing) activity [GO:0004392]; metal ion binding [GO:0046872]; phospholipase D activity [GO:0004630]; protein homodimerization activity [GO:0042803]; angiogenesis [GO:0001525]; cell death [GO:0008219]; cellular iron ion homeostasis [GO:0006879]; cellular response to arsenic-containing substance [GO:0071243]; cellular response to cadmium ion [GO:0071276]; cellular response to cisplatin [GO:0072719]; cellular response to heat [GO:0034605]; cellular response to hypoxia [GO:0071456]; cellular response to nutrient [GO:0031670]; cytokine-mediated signaling pathway [GO:0019221]; endothelial cell proliferation [GO:0001935]; erythrocyte homeostasis [GO:0034101]; excretion [GO:0007588]; heme catabolic process [GO:0042167]; heme oxidation [GO:0006788]; intracellular signal transduction [GO:0035556]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; iron ion homeostasis [GO:0055072]; liver regeneration [GO:0097421]; low-density lipoprotein particle clearance [GO:0034383]; negative regulation of DNA binding [GO:0043392]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of epithelial cell apoptotic process [GO:1904036]; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902042]; negative regulation of leukocyte migration [GO:0002686]; negative regulation of macroautophagy [GO:0016242]; negative regulation of mast cell cytokine production [GO:0032764]; negative regulation of mast cell degranulation [GO:0043305]; negative regulation of muscle cell apoptotic process [GO:0010656]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of smooth muscle cell proliferation [GO:0048662]; negative regulation of vascular smooth muscle cell proliferation [GO:1904706]; positive regulation of angiogenesis [GO:0045766]; positive regulation of apoptotic process [GO:0043065]; positive regulation of blood vessel diameter [GO:0097755]; positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis [GO:1903589]; positive regulation of cell migration involved in sprouting angiogenesis [GO:0090050]; positive regulation of chemokine biosynthetic process [GO:0045080]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of macroautophagy [GO:0016239]; positive regulation of smooth muscle cell proliferation [GO:0048661]; protein homooligomerization [GO:0051260]; regulation of angiogenesis [GO:0045765]; regulation of blood pressure [GO:0008217]; regulation of DNA-binding transcription factor activity [GO:0051090]; regulation of transcription from RNA polymerase II promoter in response to iron [GO:0034395]; regulation of transcription from RNA polymerase II promoter in response to oxidative stress [GO:0043619]; response to estrogen [GO:0043627]; response to hydrogen peroxide [GO:0042542]; response to nicotine [GO:0035094]; response to oxidative stress [GO:0006979]; small GTPase mediated signal transduction [GO:0007264]; smooth muscle hyperplasia [GO:0014806]; wound healing involved in inflammatory response [GO:0002246]

location:
SUBCELLULAR LOCATION: Microsome {ECO:0000269|PubMed:22419571}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:22419571}; Peripheral membrane protein {ECO:0000269|PubMed:22419571}; Cytoplasmic side {ECO:0000269|PubMed:22419571}.


uniprotID: P58876
geneSymbol: HIST1H2BD
name: Histone H2B type 1-D (HIRA-interacting protein 2) (Histone H2B.1 B) (Histone H2B.b) (H2B/b)
length: 126
go: ENSG00000158373;
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
reactome:
R-HSA-1221632;R-HSA-171306;R-HSA-1912408;R-HSA-201722;R-HSA-212300;R-HSA-2299718;R-HSA-2559580;R-HSA-2559582;R-HSA-2559586;R-HSA-3214815;R-HSA-3214847;R-HSA-427359;R-HSA-427389;R-HSA-427413;R-HSA-5250924;R-HSA-5334118;R-HSA-5578749;R-HSA-5617472;R-HSA-5625886;R-HSA-5689880;R-HSA-5693565;R-HSA-5693571;R-HSA-5693607;R-HSA-606279;R-HSA-69473;R-HSA-73728;R-HSA-73777;R-HSA-8866654;R-HSA-8936459;R-HSA-8939236;R-HSA-9018519;R-HSA-912446;R-HSA-977225;

sequence:
MPEPTKSAPAPKKGSKKAVTKAQKKDGKKRKRSRKESYSVYVYKVLKQVHPDTGISSKAMGIMNSFVNDIFERIAGEASRLAHYNKRSTITSREIQTAVRLLLPGELAKHAVSEGTKAVTKYTSSK

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; nucleosome [GO:0000786]; nucleus [GO:0005634]; DNA binding [GO:0003677]; protein heterodimerization activity [GO:0046982]; nucleosome assembly [GO:0006334]; protein ubiquitination [GO:0016567]


uniprotID: O60814
geneSymbol: HIST1H2BK
pdb: 2CV5;
name: Histone H2B type 1-K (H2B K) (HIRA-interacting protein 1)
length: 126
go: ENSG00000197903;
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
reactome:
R-HSA-1221632;R-HSA-171306;R-HSA-1912408;R-HSA-201722;R-HSA-212300;R-HSA-2299718;R-HSA-2559580;R-HSA-2559582;R-HSA-2559586;R-HSA-3214815;R-HSA-3214847;R-HSA-427359;R-HSA-427389;R-HSA-427413;R-HSA-5250924;R-HSA-5334118;R-HSA-5578749;R-HSA-5617472;R-HSA-5625886;R-HSA-5689880;R-HSA-5693565;R-HSA-5693571;R-HSA-5693607;R-HSA-606279;R-HSA-69473;R-HSA-73728;R-HSA-73777;R-HSA-8866654;R-HSA-8936459;R-HSA-8939236;R-HSA-9018519;R-HSA-912446;R-HSA-977225;

sequence:
MPEPAKSAPAPKKGSKKAVTKAQKKDGKKRKRSRKESYSVYVYKVLKQVHPDTGISSKAMGIMNSFVNDIFERIAGEASRLAHYNKRSTITSREIQTAVRLLLPGELAKHAVSEGTKAVTKYTSAK

opentargets:
cytosol [GO:0005829]; extracellular space [GO:0005615]; nucleoplasm [GO:0005654]; nucleosome [GO:0000786]; nucleus [GO:0005634]; DNA binding [GO:0003677]; protein heterodimerization activity [GO:0046982]; antibacterial humoral response [GO:0019731]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; innate immune response in mucosa [GO:0002227]; killing of cells of other organism [GO:0031640]; nucleosome assembly [GO:0006334]; protein ubiquitination [GO:0016567]


uniprotID: P23527
geneSymbol: HIST1H2BO
name: Histone H2B type 1-O (Histone H2B.2) (Histone H2B.n) (H2B/n)
length: 126
go: ENSG00000274641;
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
reactome:
R-HSA-1221632;R-HSA-171306;R-HSA-1912408;R-HSA-201722;R-HSA-212300;R-HSA-2299718;R-HSA-2559580;R-HSA-2559582;R-HSA-2559586;R-HSA-3214815;R-HSA-3214847;R-HSA-427359;R-HSA-427389;R-HSA-427413;R-HSA-5250924;R-HSA-5334118;R-HSA-5578749;R-HSA-5617472;R-HSA-5625886;R-HSA-5689880;R-HSA-5693565;R-HSA-5693571;R-HSA-5693607;R-HSA-606279;R-HSA-69473;R-HSA-73728;R-HSA-73777;R-HSA-8866654;R-HSA-8936459;R-HSA-8939236;R-HSA-9018519;R-HSA-912446;R-HSA-977225;

sequence:
MPDPAKSAPAPKKGSKKAVTKAQKKDGKKRKRSRKESYSIYVYKVLKQVHPDTGISSKAMGIMNSFVNDIFERIAGEASRLAHYNKRSTITSREIQTAVRLLLPGELAKHAVSEGTKAVTKYTSSK

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleosome [GO:0000786]; nucleus [GO:0005634]; DNA binding [GO:0003677]; protein heterodimerization activity [GO:0046982]; nucleosome assembly [GO:0006334]; protein ubiquitination [GO:0016567]


uniprotID: P57053
geneSymbol: H2BFS
name: Histone H2B type F-S (Histone H2B.s) (H2B/s)
length: 126
go: ENSG00000234289;
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
reactome:
R-HSA-1221632;R-HSA-171306;R-HSA-1912408;R-HSA-201722;R-HSA-212300;R-HSA-2299718;R-HSA-2559580;R-HSA-2559582;R-HSA-2559586;R-HSA-427359;R-HSA-427389;R-HSA-427413;R-HSA-5250924;R-HSA-5334118;R-HSA-5578749;R-HSA-5617472;R-HSA-5625886;R-HSA-5693565;R-HSA-5693571;R-HSA-5693607;R-HSA-606279;R-HSA-69473;R-HSA-73728;R-HSA-73777;R-HSA-8936459;R-HSA-8939236;R-HSA-9018519;R-HSA-912446;R-HSA-977225;

sequence:
MPEPAKSAPAPKKGSKKAVTKAQKKDGRKRKRSRKESYSVYVYKVLKQVHPDTGISSKAMGIMNSFVNDIFERIAGEASRLPHYNKRSTITSREIQTAVRLLLPGELAKHAVSEGTKAVTKYTSAK

opentargets:
cytosol [GO:0005829]; extracellular space [GO:0005615]; nucleoplasm [GO:0005654]; nucleosome [GO:0000786]; nucleus [GO:0005634]; DNA binding [GO:0003677]; protein heterodimerization activity [GO:0046982]; antibacterial humoral response [GO:0019731]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; defense response to Gram-positive bacterium [GO:0050830]; innate immune response in mucosa [GO:0002227]; nucleosome assembly [GO:0006334]; substantia nigra development [GO:0021762]


uniprotID: Q16778
geneSymbol: HIST2H2BE
pdb: 4NFT;
name: Histone H2B type 2-E (Histone H2B-GL105) (Histone H2B.q) (H2B/q)
length: 126
go: ENSG00000184678;
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
reactome:
R-HSA-1221632;R-HSA-171306;R-HSA-1912408;R-HSA-201722;R-HSA-212300;R-HSA-2299718;R-HSA-2559580;R-HSA-2559582;R-HSA-2559586;R-HSA-3214815;R-HSA-3214847;R-HSA-427359;R-HSA-427389;R-HSA-427413;R-HSA-5250924;R-HSA-5334118;R-HSA-5578749;R-HSA-5617472;R-HSA-5625886;R-HSA-5689880;R-HSA-5693565;R-HSA-5693571;R-HSA-5693607;R-HSA-606279;R-HSA-69473;R-HSA-73728;R-HSA-73777;R-HSA-8936459;R-HSA-8939236;R-HSA-9018519;R-HSA-912446;R-HSA-977225;

sequence:
MPEPAKSAPAPKKGSKKAVTKAQKKDGKKRKRSRKESYSIYVYKVLKQVHPDTGISSKAMGIMNSFVNDIFERIAGEASRLAHYNKRSTITSREIQTAVRLLLPGELAKHAVSEGTKAVTKYTSSK

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; nucleoplasm [GO:0005654]; nucleosome [GO:0000786]; nucleus [GO:0005634]; DNA binding [GO:0003677]; protein heterodimerization activity [GO:0046982]; antibacterial humoral response [GO:0019731]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; defense response to Gram-positive bacterium [GO:0050830]; innate immune response in mucosa [GO:0002227]; nucleosome assembly [GO:0006334]


uniprotID: Q16695
geneSymbol: HIST3H3
pdb: 2V1D;2YBP;2YBS;3A6N;3T6R;4V2V;4V2W;
name: Histone H3.1t (H3/t) (H3t) (H3/g)
length: 136
go: ENSG00000168148;
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
reactome:
R-HSA-1221632;R-HSA-171306;R-HSA-201722;R-HSA-2299718;R-HSA-2559586;R-HSA-5693565;R-HSA-5693571;R-HSA-5693607;R-HSA-69473;R-HSA-912446;

sequence:
MARTKQTARKSTGGKAPRKQLATKVARKSAPATGGVKKPHRYRPGTVALREIRRYQKSTELLIRKLPFQRLMREIAQDFKTDLRFQSSAVMALQEACESYLVGLFEDTNLCVIHAKRVTIMPKDIQLARRIRGERA

opentargets:
extracellular exosome [GO:0070062]; nuclear chromosome, telomeric region [GO:0000784]; nuclear nucleosome [GO:0000788]; nucleoplasm [GO:0005654]; nucleosome [GO:0000786]; nucleus [GO:0005634]; nucleosomal DNA binding [GO:0031492]; protein heterodimerization activity [GO:0046982]; double-strand break repair via nonhomologous end joining [GO:0006303]; negative regulation of protein oligomerization [GO:0032460]; nucleosome assembly [GO:0006334]; protein heterotetramerization [GO:0051290]; telomere capping [GO:0016233]


uniprotID: P68431
geneSymbol: HIST1H3A; HIST1H3B; HIST1H3C; HIST1H3D; HIST1H3E; HIST1H3F; HIST1H3G; HIST1H3H; HIST1H3I; HIST1H3J
length: 136
snps: rs1057519904
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
reactome:
R-HSA-1266695;R-HSA-1912408;R-HSA-201722;R-HSA-212300;R-HSA-2299718;R-HSA-2559580;R-HSA-2559582;R-HSA-3214815;R-HSA-3214841;R-HSA-3214842;R-HSA-3214847;R-HSA-3214858;R-HSA-3247509;R-HSA-427359;R-HSA-427389;R-HSA-427413;R-HSA-5250924;R-HSA-5334118;R-HSA-5578749;R-HSA-5617472;R-HSA-5625886;R-HSA-73728;R-HSA-73777;R-HSA-8936459;R-HSA-8939236;R-HSA-9018519;R-HSA-912446;R-HSA-977225;R-HSA-983231;

pdb:
1CS9;1CT6;1O9S;1Q3L;2B2T;2B2U;2B2V;2B2W;2C1J;2C1N;2CO0;2CV5;2KWJ;2KWK;2L75;2LBM;2M0O;2NDF;2NDG;2OQ6;2OT7;2OX0;2RI7;2UXN;2V85;2V89;2VNF;2VPG;2X0L;3A1B;3AFA;3AVR;3AYW;3AZE;3AZF;3AZG;3AZH;3AZI;3AZJ;3AZK;3AZL;3AZM;3AZN;3B95;3KMT;3KQI;3LQI;3LQJ;3MP1;3O34;3O35;3O37;3QJ6;3RIG;3RIY;3SOU;3SOW;3U31;3U3D;3U4S;3U5N;3U5O;3U5P;3UEE;3UEF;3UIG;3UII;3UIK;3V43;3W96;3W97;3W98;3W99;3WA9;3WAA;3WKJ;3X1S;3X1T;3X1U;3X1V;3ZG6;3ZVY;4A0J;4A0N;4A7J;4BD3;4C1Q;4F4U;4F56;4FWF;4HON;4I51;4L7X;4LK9;4LKA;4LLB;4LXL;4N4H;4QBQ;4QBR;4QBS;4TN7;4U68;4UP0;4UY4;4X3K;4Y6L;4YHP;4YHZ;4YM5;4YM6;4Z0R;4Z2M;5AV5;5AV6;5AV8;5AV9;5AVB;5AVC;5B24;5B2I;5B2J;5B31;5C11;5C13;5C3I;5CPI;5CPJ;5CPK;5D6Y;5DAH;5FB0;5FB1;5FFV;5GH9;5GSE;5GSU;5GT0;5GT3;5GTC;5H6Q;5H6R;5HJB;5HJC;5HJD;5HYN;5IQL;5J3V;5J9S;5JHN;5JIN;5JIY;5JJ0;5JRG;5KJH;5KJI;5KKL;5LUG;5M5G;5MR8;5OY3;5SVX;5SVY;5SZB;5SZC;5T0K;5T0M;5T1G;5T1I;5T8R;5TBN;5TDR;5TDW;5U2J;5V21;5V22;5VA6;5VAB;5VGE;5WFC;5WLE;5WVO;5WXG;5WXH;5WYI;5X60;5XF3;5XF4;5XF5;5XFQ;5XFR;5XNV;5Y0C;5Y0D;5Y20;5Z30;6AXJ;6BHD;6BHE;6BHG;6BHH;6BHI;6ETX;

name:
Histone H3.1 (Histone H3/a) (Histone H3/b) (Histone H3/c) (Histone H3/d) (Histone H3/f) (Histone H3/h) (Histone H3/i) (Histone H3/j) (Histone H3/k) (Histone H3/l)

sequence:
MARTKQTARKSTGGKAPRKQLATKAARKSAPATGGVKKPHRYRPGTVALREIRRYQKSTELLIRKLPFQRLVREIAQDFKTDLRFQSSAVMALQEACEAYLVGLFEDTNLCAIHAKRVTIMPKDIQLARRIRGERA

go:
ENSG00000197153;ENSG00000197409;ENSG00000273983;ENSG00000274267;ENSG00000274750;ENSG00000275379;ENSG00000275714;ENSG00000277775;ENSG00000278272;ENSG00000278828;

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; membrane [GO:0016020]; nuclear chromosome [GO:0000228]; nuclear nucleosome [GO:0000788]; nucleoplasm [GO:0005654]; nucleosome [GO:0000786]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; cadherin binding [GO:0045296]; nucleosomal DNA binding [GO:0031492]; protein heterodimerization activity [GO:0046982]; blood coagulation [GO:0007596]; cellular protein metabolic process [GO:0044267]; chromatin organization [GO:0006325]; chromatin silencing at rDNA [GO:0000183]; DNA replication-dependent nucleosome assembly [GO:0006335]; interleukin-7-mediated signaling pathway [GO:0038111]; negative regulation of gene expression, epigenetic [GO:0045814]; nucleosome assembly [GO:0006334]; protein heterotetramerization [GO:0051290]; regulation of gene silencing [GO:0060968]; regulation of gene silencing by miRNA [GO:0060964]; regulation of megakaryocyte differentiation [GO:0045652]; telomere organization [GO:0032200]


uniprotID: P0DPK2
pdb: 5AY8;
name: Histone H3.Y
length: 136
go: ENSG00000269466;
sequence:
MARTKQTARKATAWQAPRKPLATKAAGKRAPPTGGIKKPHRYKPGTLALREIRKYQKSTQLLLRKLPFQRLVREIAQAISPDLRFQSAAIGALQEASEAYLVQLFEDTNLCAIHARRVTIMPRDMQLARRLRREGP

opentargets:
nuclear nucleosome [GO:0000788]; nucleosomal DNA binding [GO:0031492]; protein heterodimerization activity [GO:0046982]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20819935}. Chromosome {ECO:0000269|PubMed:27016736, ECO:0000269|PubMed:28334823, ECO:0000305|PubMed:20819935}. Note=Histone H3.Y-containing nucleosomes are depleted from repressive post-translational histone modifications (PubMed:28334823). Histone H3.Y-containing nucleosomes accumulate around transcription start sites (PubMed:27016736). {ECO:0000269|PubMed:27016736, ECO:0000269|PubMed:28334823}.


uniprotID: Q14974
geneSymbol: KPNB1
reactome: R-HSA-1169408;R-HSA-1655829;R-HSA-168271;R-HSA-168276;R-HSA-180746;R-HSA-211227;R-HSA-6798695;
pdb: 1F59;1IBR;1M5N;1O6O;1O6P;1QGK;1QGR;2P8Q;2Q5D;2QNA;3LWW;3W5K;
length: 876
go: ENSG00000108424;
name:
Importin subunit beta-1 (Importin-90) (Karyopherin subunit beta-1) (Nuclear factor p97) (Pore targeting complex 97 kDa subunit) (PTAC97)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; endoplasmic reticulum tubular network [GO:0071782]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; host cell [GO:0043657]; membrane [GO:0016020]; nuclear envelope [GO:0005635]; nuclear membrane [GO:0031965]; nuclear periphery [GO:0034399]; nuclear pore [GO:0005643]; nucleoplasm [GO:0005654]; specific granule lumen [GO:0035580]; enzyme binding [GO:0019899]; Hsp90 protein binding [GO:0051879]; nuclear localization sequence binding [GO:0008139]; protein domain specific binding [GO:0019904]; protein transporter activity [GO:0008565]; Ran GTPase binding [GO:0008536]; RNA binding [GO:0003723]; zinc ion binding [GO:0008270]; apoptotic DNA fragmentation [GO:0006309]; astral microtubule organization [GO:0030953]; establishment of mitotic spindle localization [GO:0040001]; establishment of protein localization [GO:0045184]; intracellular transport of virus [GO:0075733]; mitotic chromosome movement towards spindle pole [GO:0007079]; mitotic metaphase plate congression [GO:0007080]; mitotic spindle assembly [GO:0090307]; modulation by virus of host process [GO:0019054]; neutrophil degranulation [GO:0043312]; NLS-bearing protein import into nucleus [GO:0006607]; protein import into nucleus [GO:0006606]; protein import into nucleus, translocation [GO:0000060]; Ran protein signal transduction [GO:0031291]; regulation of cholesterol biosynthetic process [GO:0045540]; ribosomal protein import into nucleus [GO:0006610]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14974-1; Sequence=Displayed; Name=2; IsoId=Q14974-2; Sequence=VSP_054612; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11891849}. Nucleus envelope {ECO:0000269|PubMed:11891849}.


uniprotID: P61296
geneSymbol: HAND2
reactome: R-HSA-8878166;
length: 217
go: ENSG00000164107;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}.
name:
Heart- and neural crest derivatives-expressed protein 2 (Class A basic helix-loop-helix protein 26) (bHLHa26) (Deciduum, heart, autonomic nervous system and neural crest derivatives-expressed protein 2) (dHAND)

sequence:

opentargets:
nuclear chromatin [GO:0000790]; protein-containing complex [GO:0032991]; transcription factor complex [GO:0005667]; activating transcription factor binding [GO:0033613]; AT DNA binding [GO:0003680]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; E-box binding [GO:0070888]; 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 regulatory region sequence-specific DNA binding [GO:0000977]; transcription coactivator activity [GO:0003713]; transcription factor binding [GO:0008134]; adult heart development [GO:0007512]; angiogenesis [GO:0001525]; apoptotic process involved in heart morphogenesis [GO:0003278]; cardiac neural crest cell development involved in outflow tract morphogenesis [GO:0061309]; cardiac neural crest cell migration involved in outflow tract morphogenesis [GO:0003253]; cardiac right ventricle formation [GO:0003219]; cartilage morphogenesis [GO:0060536]; cell proliferation involved in outflow tract morphogenesis [GO:0061325]; coronary artery morphogenesis [GO:0060982]; embryonic digit morphogenesis [GO:0042733]; heart development [GO:0007507]; heart looping [GO:0001947]; in utero embryonic development [GO:0001701]; mesenchymal cell proliferation [GO:0010463]; negative regulation of cardiac muscle cell apoptotic process [GO:0010667]; negative regulation of DNA binding [GO:0043392]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of gene expression [GO:0010629]; negative regulation of osteoblast differentiation [GO:0045668]; noradrenergic neuron differentiation [GO:0003357]; odontogenesis of dentin-containing tooth [GO:0042475]; peripheral nervous system neuron development [GO:0048935]; positive regulation of cardiac muscle hypertrophy [GO:0010613]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of gene expression [GO:0010628]; positive regulation of p38MAPK cascade [GO:1900745]; positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis [GO:2000764]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process [GO:2000763]; positive regulation of transcription regulatory region DNA binding [GO:2000679]; positive regulation of transcription, DNA-templated [GO:0045893]; primary palate development [GO:1903929]; regulation of secondary heart field cardioblast proliferation [GO:0003266]; regulation of tissue remodeling [GO:0034103]; suckling behavior [GO:0001967]; sympathetic nervous system development [GO:0048485]; thymus development [GO:0048538]; tongue development [GO:0043586]; visceral serous pericardium development [GO:0061032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P61296-1; Sequence=Displayed; Name=2; IsoId=P61296-2; Sequence=VSP_056880, VSP_056881; Note=No experimental confirmation available.; 


uniprotID: Q6PII5
geneSymbol: HAGHL
name: Hydroxyacylglutathione hydrolase-like protein (EC 3.1.2.-)
length: 290
go: ENSG00000103253;
opentargets: hydrolase activity [GO:0016787]; metal ion binding [GO:0046872]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6PII5-1; Sequence=Displayed; Name=2; IsoId=Q6PII5-2; Sequence=VSP_030054; Name=3; IsoId=Q6PII5-3; Sequence=VSP_030053, VSP_030055; Name=4; IsoId=Q6PII5-4; Sequence=VSP_030052, VSP_030056; 


uniprotID: O43593
geneSymbol: HR
name: Lysine-specific demethylase hairless (EC 1.14.11.-)
length: 1189
go: ENSG00000168453;
snps: rs12675375 rs56140348 rs117197822 rs11990421 rs121434451 rs7014851 rs121434448
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
chromatin [GO:0000785]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin DNA binding [GO:0031490]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; histone demethylase activity (H3-K9 specific) [GO:0032454]; metal ion binding [GO:0046872]; oxidoreductase activity [GO:0016491]; transcription corepressor activity [GO:0003714]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; histone H3-K9 demethylation [GO:0033169]; negative regulation of transcription, DNA-templated [GO:0045892]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=Long; IsoId=O43593-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=O43593-2; Sequence=VSP_004276; 


uniprotID: Q96CS2
geneSymbol: HAUS1
reactome: R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-8854518;
length: 278
go: ENSG00000152240;
name:
HAUS augmin-like complex subunit 1 (Coiled-coil domain-containing protein 5) (Enhancer of invasion-cluster) (HEI-C)

sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; HAUS complex [GO:0070652]; microtubule [GO:0005874]; spindle pole [GO:0000922]; cell division [GO:0051301]; centrosome cycle [GO:0007098]; ciliary basal body-plasma membrane docking [GO:0097711]; G2/M transition of mitotic cell cycle [GO:0000086]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; spindle assembly [GO:0051225]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96CS2-1; Sequence=Displayed; Name=2; IsoId=Q96CS2-2; Sequence=VSP_010781; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:19369198, ECO:0000269|PubMed:19427217}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:15082789, ECO:0000269|PubMed:19369198, ECO:0000269|PubMed:19427217}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000305|PubMed:19369198}. Note=Localizes with the spindle poles in mitotic cells. In metaphase, localizes to the mitotic asters and is highly punctate on the microtubule array. During later stages of mitosis, remains on the spindle but is not present at the interzone, and is finally observed at the microtubule bundles proximal to the midbody, clearly excluded from the midbody. In contrast, does not colocalize with the tubulin cytoskeleton in interphase cells. In interphase, localized at the centrosome and diffusely in the cytoplasm. {ECO:0000269|PubMed:15082789}.


uniprotID: Q7Z4H7
geneSymbol: HAUS6
reactome: R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-8854518;
name: HAUS augmin-like complex subunit 6
length: 955
go: ENSG00000147874;
snps: rs41269003 rs10511670 rs4977493
sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; HAUS complex [GO:0070652]; microtubule [GO:0005874]; microtubule organizing center [GO:0005815]; nuclear speck [GO:0016607]; spindle [GO:0005819]; cell division [GO:0051301]; centrosome cycle [GO:0007098]; ciliary basal body-plasma membrane docking [GO:0097711]; G2/M transition of mitotic cell cycle [GO:0000086]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; spindle assembly [GO:0051225]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q7Z4H7-1; Sequence=Displayed; Name=2; IsoId=Q7Z4H7-2; Sequence=VSP_017017, VSP_017018; Name=3; IsoId=Q7Z4H7-3; Sequence=VSP_040919; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:18443220, ECO:0000269|PubMed:19029337}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:19029337, ECO:0000269|PubMed:19369198, ECO:0000269|PubMed:19427217}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:19369198, ECO:0000269|PubMed:19427217}. Note=Localizes to interphase centrosomes and to mitotic spindle microtubules. {ECO:0000269|PubMed:19369198, ECO:0000269|PubMed:19427217}.


uniprotID: Q96D42
geneSymbol: HAVCR1
pdb: 5DZO;5F70;
length: 359
snps: rs2270922
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
name:
Hepatitis A virus cellular receptor 1 (HAVcr-1) (Kidney injury molecule 1) (KIM-1) (T-cell immunoglobulin and mucin domain-containing protein 1) (TIMD-1) (T-cell immunoglobulin mucin receptor 1) (TIM) (TIM-1) (T-cell membrane protein 1) (CD antigen CD365)

sequence:

opentargets:
integral component of membrane [GO:0016021]; motile cilium [GO:0031514]; virus receptor activity [GO:0001618]


uniprotID: O00165
geneSymbol: HAX1
length: 279
go: ENSG00000143575;
snps: rs11556344 rs179363871 rs179363870 rs17851425 rs141970914 rs1804715
name:
HCLS1-associated protein X-1 (HS1-associating protein X-1) (HAX-1) (HS1-binding protein 1) (HSP1BP-1)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cell cortex [GO:0005938]; cytoplasmic vesicle [GO:0031410]; endoplasmic reticulum [GO:0005783]; lamellipodium [GO:0030027]; mitochondrial intermembrane space [GO:0005758]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; nuclear envelope [GO:0005635]; nuclear membrane [GO:0031965]; P-body [GO:0000932]; plasma membrane [GO:0005886]; sarcoplasmic reticulum [GO:0016529]; transcription factor complex [GO:0005667]; interleukin-1 binding [GO:0019966]; protein N-terminus binding [GO:0047485]; cellular response to cytokine stimulus [GO:0071345]; negative regulation of apoptotic process [GO:0043066]; positive regulation of actin cytoskeleton reorganization [GO:2000251]; positive regulation of granulocyte differentiation [GO:0030854]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of actin filament polymerization [GO:0030833]; regulation of apoptotic process [GO:0042981]; regulation of autophagy of mitochondrion [GO:1903146]; regulation of protein targeting to mitochondrion [GO:1903214]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=O00165-1; Sequence=Displayed; Name=2; IsoId=O00165-2; Sequence=VSP_038537; Name=3; IsoId=O00165-3; Sequence=VSP_038536; Name=4; IsoId=O00165-4; Sequence=VSP_038538, VSP_038539; Name=5; IsoId=O00165-5; Sequence=VSP_038543; Name=6; IsoId=O00165-6; Sequence=VSP_038544, VSP_038545; 

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:18971376, ECO:0000269|PubMed:9058808}. Endoplasmic reticulum {ECO:0000269|PubMed:18971376, ECO:0000269|PubMed:9058808}. Nucleus membrane {ECO:0000269|PubMed:9058808}. Cytoplasmic vesicle {ECO:0000250|UniProtKB:O35387}. Cytoplasm, cell cortex {ECO:0000269|PubMed:26997484}. Cell membrane {ECO:0000269|PubMed:26997484}; Peripheral membrane protein {ECO:0000269|PubMed:26997484}; Cytoplasmic side {ECO:0000269|PubMed:26997484}. Sarcoplasmic reticulum {ECO:0000250|UniProtKB:Q7TSE9}. Cytoplasm, P-body {ECO:0000269|PubMed:23164465}.; SUBCELLULAR LOCATION: Isoform 1: Cytoplasm {ECO:0000269|PubMed:23164465}. Nucleus {ECO:0000269|PubMed:23164465}. Note=Predominantly cytoplasmic. Also detected in the nucleus when nuclear export is inhibited, and in response to cellular stress caused by arsenite (in vitro). {ECO:0000269|PubMed:23164465}.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm {ECO:0000269|PubMed:23164465}. Nucleus {ECO:0000269|PubMed:23164465}. Note=Predominantly cytoplasmic. Also detected in the nucleus when nuclear export is inhibited (in vitro). {ECO:0000269|PubMed:23164465}.; SUBCELLULAR LOCATION: Isoform 4: Cytoplasm {ECO:0000269|PubMed:23164465}. Nucleus {ECO:0000269|PubMed:23164465}. Note=Shuttles between nucleus and cytoplasm. {ECO:0000269|PubMed:23164465}.; SUBCELLULAR LOCATION: Isoform 5: Cytoplasm {ECO:0000269|PubMed:23164465}. Note=Predominantly cytoplasmic. {ECO:0000269|PubMed:23164465}.


uniprotID: P69905
geneSymbol: HBA1; HBA2
reactome: R-HSA-1237044;R-HSA-1247673;R-HSA-2168880;
name: Hemoglobin subunit alpha (Alpha-globin) (Hemoglobin alpha chain)
length: 142
go: ENSG00000188536;ENSG00000206172;
drug: DB07427;DB07428;DB02126;DB00893;DB09146;DB00358;DB07645;
pdb:
1A00;1A01;1A0U;1A0Z;1A3N;1A3O;1A9W;1ABW;1ABY;1AJ9;1B86;1BAB;1BBB;1BIJ;1BUW;1BZ0;1BZ1;1BZZ;1C7B;1C7C;1C7D;1CLS;1CMY;1COH;1DKE;1DXT;1DXU;1DXV;1FDH;1FN3;1G9V;1GBU;1GBV;1GLI;1GZX;1HAB;1HAC;1HBA;1HBB;1HBS;1HCO;1HDB;1HGA;1HGB;1HGC;1HHO;1IRD;1J3Y;1J3Z;1J40;1J41;1J7S;1J7W;1J7Y;1JY7;1K0Y;1K1K;1KD2;1LFL;1LFQ;1LFT;1LFV;1LFY;1LFZ;1LJW;1M9P;1MKO;1NEJ;1NIH;1NQP;1O1I;1O1J;1O1K;1O1L;1O1M;1O1N;1O1O;1O1P;1QI8;1QSH;1QSI;1QXD;1QXE;1R1X;1R1Y;1RPS;1RQ3;1RQ4;1RQA;1RVW;1SDK;1SDL;1SHR;1SI4;1THB;1UIW;1VWT;1XXT;1XY0;1XYE;1XZ2;1XZ4;1XZ5;1XZ7;1XZU;1XZV;1Y01;1Y09;1Y0A;1Y0C;1Y0D;1Y0T;1Y0W;1Y22;1Y2Z;1Y31;1Y35;1Y45;1Y46;1Y4B;1Y4F;1Y4G;1Y4P;1Y4Q;1Y4R;1Y4V;1Y5F;1Y5J;1Y5K;1Y7C;1Y7D;1Y7G;1Y7Z;1Y83;1Y85;1Y8W;1YDZ;1YE0;1YE1;1YE2;1YEN;1YEO;1YEQ;1YEU;1YEV;1YFF;1YG5;1YGD;1YGF;1YH9;1YHE;1YHR;1YIE;1YIH;1YVQ;1YVT;1YZI;1Z8U;2D5Z;2D60;2DN1;2DN2;2DN3;2DXM;2H35;2HBC;2HBD;2HBE;2HBF;2HBS;2HCO;2HHB;2HHD;2HHE;2M6Z;2W6V;2W72;2YRS;3B75;3D17;3D7O;3DUT;3HHB;3HXN;3IA3;3IC0;3IC2;3KMF;3NL7;3NMM;3ODQ;3ONZ;3OO4;3OO5;3OVU;3P5Q;3QJB;3QJC;3QJD;3QJE;3R5I;3S48;3S65;3S66;3SZK;3WCP;3WHM;4FC3;4HHB;4IJ2;4L7Y;4M4A;4M4B;4MQC;4MQG;4MQH;4MQI;4MQJ;4MQK;4N7N;4N7O;4N7P;4N8T;4NI0;4NI1;4ROL;4ROM;4WJG;4X0L;4XS0;5E29;5E6E;5E83;5EE4;5HU6;5HY8;5JDO;5KDQ;5KSI;5KSJ;5NI1;5SW7;5U3I;5UCU;5UFJ;5URC;5VMM;5WOG;5WOH;5X2R;5X2S;5X2T;5X2U;6BB5;6BNR;6BWP;6BWU;6DI4;6HBW;

sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

opentargets:
blood microparticle [GO:0072562]; cytosol [GO:0005829]; cytosolic small ribosomal subunit [GO:0022627]; endocytic vesicle lumen [GO:0071682]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; haptoglobin-hemoglobin complex [GO:0031838]; hemoglobin complex [GO:0005833]; membrane [GO:0016020]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; organic acid binding [GO:0043177]; oxygen binding [GO:0019825]; oxygen carrier activity [GO:0005344]; bicarbonate transport [GO:0015701]; cellular oxidant detoxification [GO:0098869]; hydrogen peroxide catabolic process [GO:0042744]; oxygen transport [GO:0015671]; positive regulation of cell death [GO:0010942]; protein heterooligomerization [GO:0051291]; receptor-mediated endocytosis [GO:0006898]; response to hydrogen peroxide [GO:0042542]

snps:
rs33981821 rs36030576 rs34090856 rs34751764 rs33986902 rs281864805 rs33961916 rs281864805 rs281864806 rs34817956 rs281860608 rs33938574 rs35615982 rs35331909 rs33964317 rs35816645 rs35210126 rs281860648 rs281860619 rs35993097 rs34504387 rs35628685 rs41525149 rs33943087 rs11548605 rs34324664 rs34608326 rs33939421 rs281864819 rs281864821 rs281864822 rs281864822 rs281865556 rs281864823 rs281864823 rs111033605 rs281864543 rs111033606 rs281864825 rs281864826 rs281864828 rs281860623 rs41491146 rs33978134 rs281864830 rs281864830 rs281860624 rs281864831 rs281864833 rs281864833 rs281864834 rs281864834 rs41392146 rs41518249 rs281864835 rs281864836 rs281864837 rs281864838 rs281864839 rs281864841 rs281864841 rs281864843 rs41378349 rs281864845 rs28928878 rs281864846 rs281860659 rs111033598 rs33985574 rs281865558 rs41515649 rs281864848 rs281864849 rs1060339 rs281864853 rs281864853 rs281864854 rs281864856 rs33921047 rs281864857 rs33991223 rs281864858 rs281864860 rs281864860 rs281864861 rs111033602 rs281860607 rs281860603 rs281864863 rs281864864 rs281864865 rs281860612 rs41331747 rs281864777 rs281864866 rs281864868 rs281864867 rs281864869 rs281864873 rs281864494 rs281864874 rs281864875 rs281864876 rs281864879 rs281864878 rs281864881 rs281864881 rs41338947 rs281864882 rs41344646 rs63750752 rs63750073 rs41479844 rs28928889 rs281864885 rs281860618 rs267607269 rs267607269 rs281864887 rs281864888 rs281864946 rs36075744 rs35187567 rs41479347 rs41397847 rs41397847 rs33957766 rs33957766 rs33933481 rs33972894 rs281864889 rs41528545 rs41529844 rs63751417 rs56308100 rs55948437 rs63749809 rs41364652 rs41469945 rs41469945 rs63750801 rs41361546 rs56348461 rs55870409 rs63750134 rs63751282 rs63751282 rs63751282 


uniprotID: O60381
geneSymbol: HBP1
pdb: 2E6O;3QVE;
length: 514
go: ENSG00000105856;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267, ECO:0000269|PubMed:10562551}.
name:
HMG box-containing protein 1 (HMG box transcription factor 1) (High mobility group box transcription factor 1)

sequence:

opentargets:
nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA binding [GO:0003723]; cell cycle arrest [GO:0007050]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O60381-1; Sequence=Displayed; Name=2; IsoId=O60381-2; Sequence=VSP_014655; Note=No experimental confirmation available.; Name=3; IsoId=O60381-3; Sequence=VSP_014656; 


uniprotID: Q96G21
geneSymbol: IMP4
reactome: R-HSA-6790901;R-HSA-6791226;
length: 291
go: ENSG00000136718;
name:
U3 small nucleolar ribonucleoprotein protein IMP4 (U3 snoRNP protein IMP4) (Brix domain-containing protein 4)

sequence:

opentargets:
fibrillar center [GO:0001650]; Mpp10 complex [GO:0034457]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; preribosome [GO:0030684]; small-subunit processome [GO:0032040]; rRNA primary transcript binding [GO:0042134]; snoRNA binding [GO:0030515]; rRNA processing [GO:0006364]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12655004, ECO:0000269|PubMed:16533400}.


uniprotID: P08631
geneSymbol: HCK
reactome: R-HSA-164944;R-HSA-2029481;R-HSA-912631;
length: 526
go: ENSG00000101336;
drug: DB06616;DB01962;DB04216;
snps: rs56029200 rs55722810 rs17093828
pdb:
1AD5;1BU1;1QCF;2C0I;2C0O;2C0T;2HCK;2HK5;2OI3;2OJ2;3HCK;3NHN;3RBB;3REA;3REB;3VRY;3VRZ;3VS0;3VS1;3VS2;3VS3;3VS4;3VS5;3VS6;3VS7;4HCK;4LUD;4LUE;4ORZ;4U5W;5H09;5H0B;5H0E;5H0G;5H0H;5HCK;5NUH;5ZJ6;

name:
Tyrosine-protein kinase HCK (EC 2.7.10.2) (Hematopoietic cell kinase) (Hemopoietic cell kinase) (p59-HCK/p60-HCK) (p59Hck) (p61Hck)

sequence:

opentargets:
caveola [GO:0005901]; cell projection [GO:0042995]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; focal adhesion [GO:0005925]; Golgi apparatus [GO:0005794]; lysosome [GO:0005764]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; transport vesicle [GO:0030133]; ATP binding [GO:0005524]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; phosphotyrosine residue binding [GO:0001784]; protein tyrosine kinase activity [GO:0004713]; signaling receptor binding [GO:0005102]; cell adhesion [GO:0007155]; cell differentiation [GO:0030154]; cytokine-mediated signaling pathway [GO:0019221]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; inflammatory response [GO:0006954]; innate immune response-activating signal transduction [GO:0002758]; integrin-mediated signaling pathway [GO:0007229]; interferon-gamma-mediated signaling pathway [GO:0060333]; leukocyte degranulation [GO:0043299]; leukocyte migration involved in immune response [GO:0002522]; lipopolysaccharide-mediated signaling pathway [GO:0031663]; mesoderm development [GO:0007498]; negative regulation of apoptotic process [GO:0043066]; peptidyl-tyrosine autophosphorylation [GO:0038083]; peptidyl-tyrosine phosphorylation [GO:0018108]; positive regulation of actin cytoskeleton reorganization [GO:2000251]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of cell proliferation [GO:0008284]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of cell shape [GO:0008360]; regulation of defense response to virus by virus [GO:0050690]; regulation of DNA-binding transcription factor activity [GO:0051090]; regulation of inflammatory response [GO:0050727]; regulation of phagocytosis [GO:0050764]; regulation of podosome assembly [GO:0071801]; respiratory burst after phagocytosis [GO:0045728]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=4;  Name=1; Synonyms=p60-HCK, p61Hck; IsoId=P08631-1; Sequence=Displayed; Note=Initiates from a CTG codon.; Name=2; Synonyms=p59-HCK, p59Hck; IsoId=P08631-2; Sequence=VSP_018858; Name=3; IsoId=P08631-3; Sequence=VSP_018858, VSP_041926; Name=4; IsoId=P08631-4; Sequence=VSP_041926; Note=Initiates from a CTG codon.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Lysosome. Membrane; Lipid-anchor. Cell projection, podosome membrane; Lipid-anchor. Cytoplasm, cytosol. Note=Associated with specialized secretory lysosomes called azurophil granules. At least half of this isoform is found in the cytoplasm, some of this fraction is myristoylated.; SUBCELLULAR LOCATION: Isoform 2: Cell membrane {ECO:0000269|PubMed:11904303}; Lipid-anchor {ECO:0000269|PubMed:11904303}. Membrane, caveola {ECO:0000269|PubMed:11904303}; Lipid-anchor {ECO:0000269|PubMed:11904303}. Cell junction, focal adhesion {ECO:0000269|PubMed:11904303}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:11904303}. Golgi apparatus {ECO:0000269|PubMed:11904303}. Cytoplasmic vesicle {ECO:0000269|PubMed:11904303}. Lysosome {ECO:0000269|PubMed:11904303}. Nucleus {ECO:0000269|PubMed:11904303}. Note=20% of this isoform is associated with caveolae. Localization at the cell membrane and at caveolae requires palmitoylation at Cys-3. Colocalizes with the actin cytoskeleton at focal adhesions.; SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle. Cytoplasm, cytosol.


uniprotID: Q9BZV3
geneSymbol: IMPG2
length: 1241
go: ENSG00000081148;
drug: DB08818;
snps: rs201893545 rs34375459 rs571391 rs116450347 rs713993049
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
name:
Interphotoreceptor matrix proteoglycan 2 (Interphotoreceptor matrix proteoglycan of 200 kDa) (IPM 200) (Sialoprotein associated with cones and rods proteoglycan) (Spacrcan)

sequence:

opentargets:
extracellular matrix [GO:0031012]; integral component of membrane [GO:0016021]; interphotoreceptor matrix [GO:0033165]; receptor complex [GO:0043235]; extracellular matrix structural constituent [GO:0005201]; heparin binding [GO:0008201]; hyaluronic acid binding [GO:0005540]; visual perception [GO:0007601]


uniprotID: P14317
geneSymbol: HCLS1
length: 486
go: ENSG00000180353;
snps: rs2070179 rs2070180 rs9869984
name:
Hematopoietic lineage cell-specific protein (Hematopoietic cell-specific LYN substrate 1) (LckBP1) (p75)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; transcription factor complex [GO:0005667]; actin binding [GO:0003779]; protein kinase binding [GO:0019901]; protein-containing complex binding [GO:0044877]; RNA polymerase II transcription factor binding [GO:0001085]; SH3 domain binding [GO:0017124]; actin filament polymerization [GO:0030041]; cellular response to cytokine stimulus [GO:0071345]; erythrocyte differentiation [GO:0030218]; intracellular signal transduction [GO:0035556]; negative regulation of leukocyte apoptotic process [GO:2000107]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of actin cytoskeleton reorganization [GO:2000251]; positive regulation of cell proliferation [GO:0008284]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of granulocyte differentiation [GO:0030854]; positive regulation of macrophage differentiation [GO:0045651]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of protein import into nucleus [GO:0042307]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; regulation of actin filament polymerization [GO:0030833]; regulation of transcription, DNA-templated [GO:0006355]; response to hormone [GO:0009725]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P14317-1; Sequence=Displayed; Name=2; IsoId=P14317-2; Sequence=VSP_056429, VSP_056430; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:7682714}; Peripheral membrane protein {ECO:0000269|PubMed:7682714}. Cytoplasm {ECO:0000269|PubMed:7682714}. Mitochondrion {ECO:0000305|PubMed:7682714}.


uniprotID: Q9UL51
geneSymbol: HCN2
reactome: R-HSA-1296061;
pdb: 2MPF;3U10;
length: 889
go: ENSG00000099822;
drug: DB02527;DB02315;
snps: rs55687900
name:
Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2 (Brain cyclic nucleotide-gated channel 2) (BCNG-2)

sequence:

opentargets:
HCN channel complex [GO:0098855]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; cAMP binding [GO:0030552]; identical protein binding [GO:0042802]; intracellular cAMP-activated cation channel activity [GO:0005222]; voltage-gated potassium channel activity [GO:0005249]; voltage-gated sodium channel activity [GO:0005248]; cell-cell signaling [GO:0007267]; cellular response to cAMP [GO:0071320]; cellular response to cGMP [GO:0071321]; membrane depolarization during cardiac muscle cell action potential [GO:0086012]; potassium ion import across plasma membrane [GO:1990573]; potassium ion transmembrane transport [GO:0071805]; regulation of ion transmembrane transport [GO:0034765]; regulation of membrane potential [GO:0042391]; sodium ion import across plasma membrane [GO:0098719]; sodium ion transmembrane transport [GO:0035725]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10228147, ECO:0000269|PubMed:10524219}; Multi-pass membrane protein {ECO:0000269|PubMed:10228147, ECO:0000269|PubMed:10524219}.


uniprotID: P80217
geneSymbol: IFI35
reactome: R-HSA-909733;
name: Interferon-induced 35 kDa protein (IFP 35) (Ifi-35)
length: 286
go: ENSG00000068079;
opentargets: cytosol [GO:0005829]; nucleus [GO:0005634]; type I interferon signaling pathway [GO:0060337]
snps: rs588703 rs588703
location: SUBCELLULAR LOCATION: Nucleus. Note=Nuclear following IFN treatment.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P80217-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=P80217-2; Sequence=VSP_003569; Note=Due to a polymorphism at the 3'-splice acceptor site of intron 4.; 


uniprotID: Q6PI98
geneSymbol: INO80C
reactome: R-HSA-5689603;R-HSA-5696394;
name: INO80 complex subunit C (IES6 homolog) (hIes6)
length: 192
go: ENSG00000153391;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18922472}.
sequence:
MAAQIPIVATTSTPGIVRNSKKRPASPSHNGSSGGGYGASKKKKASASSFAQGISMEAMSENKMVPSEFSTGPVEKAAKPLPFKDPNFVHSGHGGAVAGKKNRTWKNLKQILASERALPWQLNDPNYFSIDAPPSFKPAKKYSDVSGLLANYTDPQSKLRFSTIEEFSYIRRLPSDVVTGYLALRKATSIVP

opentargets:
fibrillar center [GO:0001650]; Ino80 complex [GO:0031011]; MLL1 complex [GO:0071339]; nucleoplasm [GO:0005654]; chromatin remodeling [GO:0006338]; DNA recombination [GO:0006310]; DNA repair [GO:0006281]; protein deubiquitination [GO:0016579]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6PI98-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q6PI98-3; Sequence=VSP_014531; Note=No experimental confirmation available.; Name=3; IsoId=Q6PI98-4; Sequence=VSP_044967; Note=No experimental confirmation available.; 


uniprotID: Q53TQ3
geneSymbol: INO80D
reactome: R-HSA-5689603;R-HSA-5696394;
name: INO80 complex subunit D
length: 878
go: ENSG00000114933;
snps: rs2909111
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18922472}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA recombination [GO:0006310]; DNA repair [GO:0006281]; protein deubiquitination [GO:0016579]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q53TQ3-1; Sequence=Displayed; Name=2; IsoId=Q53TQ3-2; Sequence=VSP_040824; 


uniprotID: Q8NI35
geneSymbol: PATJ
reactome: R-HSA-420029;
pdb: 1VF6;2D92;2DAZ;2DB5;2DLU;2DM8;2DMZ;2EHR;4Q2N;
length: 1801
go: ENSG00000132849;
name:
InaD-like protein (Inadl protein) (hINADL) (Pals1-associated tight junction protein) (Protein associated to tight junctions)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; bicellular tight junction [GO:0005923]; cell junction [GO:0030054]; centrosome [GO:0005813]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; microtubule organizing center [GO:0005815]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; bicellular tight junction assembly [GO:0070830]; intracellular signal transduction [GO:0035556]

snps:
rs3762321 rs1286823 rs7516332 rs1286812 rs1134764 rs12141598 rs12141599 rs2799627 rs1056513 rs1134767 rs2498982 rs13376115 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8NI35-1; Sequence=Displayed; Name=2; IsoId=Q8NI35-2; Sequence=VSP_014205, VSP_014207; Name=3; IsoId=Q8NI35-3; Sequence=VSP_014207; Name=4; IsoId=Q8NI35-4; Sequence=VSP_014206, VSP_014207; Name=5; IsoId=Q8NI35-5; Sequence=VSP_014204, VSP_014208, VSP_014209; 

location:
SUBCELLULAR LOCATION: Cell junction, tight junction {ECO:0000269|PubMed:22006950}. Apical cell membrane {ECO:0000250|UniProtKB:Q63ZW7}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q63ZW7}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:Q63ZW7}. Cell membrane {ECO:0000250|UniProtKB:Q63ZW7}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q63ZW7}. Note=Localized in the paranodal region of myelinating Schwann cells (By similarity). Membrane-associated. Localizes to tight junctions in epithelial cells (PubMed:22006950). Also found at the apical plasma membrane. {ECO:0000250|UniProtKB:Q63ZW7, ECO:0000269|PubMed:22006950}.


uniprotID: C9JVW0
geneSymbol: INAFM1
name: Putative transmembrane protein INAFM1 (InaF-motif-containing protein 1) (Proline-rich protein 24)
length: 142
go: ENSG00000257704;
opentargets: integral component of membrane [GO:0016021]; calcium channel regulator activity [GO:0005246]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MRGTSCVGGGAESPGGAGLSEGPRGRWLRLAPVCAYFLCVSLAAVLLAVYYGLIWVPTRSPAAPAGPQPSAPSPPCAARPGVPPVPAPAAASLSCLLGVPGGPRPQLQLPLSRRRRYSDPDRRPSRQTPRETPEAAEGRRPG


uniprotID: P17181
geneSymbol: IFNAR1
reactome: R-HSA-909733;R-HSA-912694;
pdb: 3S98;3SE3;3SE4;4PO6;
length: 557
go: ENSG00000142166;
drug: DB00011;DB00018;DB00069;DB00060;DB00068;DB05258;DB05472;DB00008;DB00022;
snps: rs2257167 rs17875833 rs17875834
name:
Interferon alpha/beta receptor 1 (IFN-R-1) (IFN-alpha/beta receptor 1) (Cytokine receptor class-II member 1) (Cytokine receptor family 2 member 1) (CRF2-1) (Type I interferon receptor 1)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; late endosome [GO:0005770]; lysosome [GO:0005764]; plasma membrane [GO:0005886]; type I interferon binding [GO:0019962]; type I interferon receptor activity [GO:0004905]; cellular response to interferon-alpha [GO:0035457]; cytokine-mediated signaling pathway [GO:0019221]; JAK-STAT cascade [GO:0007259]; response to lipopolysaccharide [GO:0032496]; response to virus [GO:0009615]; type I interferon signaling pathway [GO:0060337]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P17181-1; Sequence=Displayed; Name=2; Synonyms=Sol-1, Soluble form 1; IsoId=P17181-2; Sequence=VSP_029930, VSP_029931; Note=Incomplete sequence.; Name=3; Synonyms=Sol-2, Soluble form 2; IsoId=P17181-3; Sequence=VSP_029928, VSP_029929; Note=Incomplete sequence.; Name=4; IsoId=P17181-4; Sequence=VSP_055322; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000269|PubMed:14532120, ECO:0000269|PubMed:18056411, ECO:0000269|PubMed:2153461, ECO:0000305|PubMed:7665574}; Single-pass type I membrane protein {ECO:0000305}. Late endosome {ECO:0000269|PubMed:18056411, ECO:0000305|PubMed:14532120}. Lysosome {ECO:0000269|PubMed:18056411, ECO:0000305|PubMed:14532120}. Note=Interferon binding triggers internalization of the receptor from the cell membrane into endosomes and then into lysosomes. {ECO:0000269|PubMed:14532120, ECO:0000269|PubMed:18056411}.


uniprotID: Q9NTI7
geneSymbol: INKA2
length: 297
go: ENSG00000197852;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26607847}.
name:
PAK4-inhibitor INKA2 (Induced in neural crest by AP2-alpha protein-related homolog) (HInca-r) (Inka box actin regulator 2)

sequence:

opentargets:
nucleus [GO:0005634]; protein kinase binding [GO:0019901]; protein serine/threonine kinase inhibitor activity [GO:0030291]


uniprotID: Q8IU57
geneSymbol: IFNLR1
reactome: R-HSA-449836;R-HSA-8854691;
pdb: 3OG4;3OG6;5IXD;5IXI;5L04;5T5W;
length: 520
go: ENSG00000185436;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.
name:
Interferon lambda receptor 1 (IFN-lambda receptor 1) (IFN-lambda-R1) (Cytokine receptor class-II member 12) (Cytokine receptor family 2 member 12) (CRF2-12) (Interleukin-28 receptor subunit alpha) (IL-28 receptor subunit alpha) (IL-28R-alpha) (IL-28RA) (Likely interleukin or cytokine receptor 2) (LICR2)

sequence:

opentargets:
integral component of membrane [GO:0016021]; interleukin-28 receptor complex [GO:0032002]; plasma membrane [GO:0005886]; cytokine-mediated signaling pathway [GO:0019221]; defense response to virus [GO:0051607]; mucosal immune response [GO:0002385]; negative regulation of cell proliferation [GO:0008285]; regulation of defense response to virus by host [GO:0050691]; response to type III interferon [GO:0034342]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=IL-28R-alpha-v1; IsoId=Q8IU57-1; Sequence=Displayed; Name=2; Synonyms=IL-28R-alpha-v2; IsoId=Q8IU57-2; Sequence=VSP_011890; Name=3; Synonyms=IL-28R-alpha-v3; IsoId=Q8IU57-3; Sequence=VSP_011888, VSP_011889, VSP_011892; Name=4; Synonyms=Secreted; IsoId=Q8IU57-4; Sequence=VSP_011891, VSP_011892; 


uniprotID: O95050
geneSymbol: INMT
reactome: R-HSA-2408552;
pdb: 2A14;
length: 263
go: ENSG00000241644;
snps: rs4723010 rs2302339 rs56800285 rs2302340 rs6970210 rs4720015 rs6970605
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Indolethylamine N-methyltransferase (Indolamine N-methyltransferase) (EC 2.1.1.49) (EC 2.1.1.96) (Aromatic alkylamine N-methyltransferase) (Amine N-methyltransferase) (Arylamine N-methyltransferase) (Thioether S-methyltransferase) (TEMT)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; amine N-methyltransferase activity [GO:0030748]; S-adenosyl-L-methionine:beta-alanine N-methyltransferase activity [GO:0102707]; thioether S-methyltransferase activity [GO:0004790]; amine metabolic process [GO:0009308]; methylation [GO:0032259]; response to toxic substance [GO:0009636]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95050-1; Sequence=Displayed; Name=2; IsoId=O95050-2; Sequence=VSP_045922; Note=No experimental confirmation available.; 


uniprotID: Q96DB2
geneSymbol: HDAC11
reactome: R-HSA-2122947;R-HSA-2644606;R-HSA-2894862;
name: Histone deacetylase 11 (HD11) (EC 3.5.1.98)
length: 347
go: ENSG00000163517;
drug: DB05015;DB06603;
location: SUBCELLULAR LOCATION: Nucleus. Note=Predominantly nuclear.
sequence:

opentargets:
histone deacetylase complex [GO:0000118]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; histone deacetylase activity [GO:0004407]; NAD-dependent histone deacetylase activity (H3-K14 specific) [GO:0032041]; transcription factor binding [GO:0008134]; chromatin organization [GO:0006325]; histone deacetylation [GO:0016575]; oligodendrocyte development [GO:0014003]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96DB2-1; Sequence=Displayed; Name=2; IsoId=Q96DB2-2; Sequence=VSP_043082, VSP_043083; Note=No experimental confirmation available.; 


uniprotID: Q13547
geneSymbol: HDAC1
pdb: 1TYI;4BKX;5ICN;
name: Histone deacetylase 1 (HD1) (EC 3.5.1.98)
length: 482
go: ENSG00000116478;
drug: DB05015;DB05921;DB05651;DB06603;DB06176;DB05223;DB02546;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10846170}.
reactome:
R-HSA-1362277;R-HSA-1362300;R-HSA-1538133;R-HSA-193670;R-HSA-201722;R-HSA-2122947;R-HSA-2173795;R-HSA-2173796;R-HSA-2644606;R-HSA-2894862;R-HSA-3214815;R-HSA-3769402;R-HSA-427389;R-HSA-427413;R-HSA-4551638;R-HSA-4641265;R-HSA-539107;R-HSA-6804758;R-HSA-73762;R-HSA-8936459;R-HSA-8943724;R-HSA-9018519;R-HSA-983231;

sequence:

opentargets:
chromatin [GO:0000785]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; heterochromatin [GO:0000792]; histone deacetylase complex [GO:0000118]; neuronal cell body [GO:0043025]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; NuRD complex [GO:0016581]; protein-containing complex [GO:0032991]; Sin3 complex [GO:0016580]; Sin3-type complex [GO:0070822]; transcription factor complex [GO:0005667]; activating transcription factor binding [GO:0033613]; core promoter sequence-specific DNA binding [GO:0001046]; deacetylase activity [GO:0019213]; DNA-binding transcription factor activity [GO:0003700]; E-box binding [GO:0070888]; enzyme binding [GO:0019899]; histone deacetylase activity [GO:0004407]; histone deacetylase binding [GO:0042826]; Krueppel-associated box domain binding [GO:0035851]; NAD-dependent histone deacetylase activity (H3-K14 specific) [GO:0032041]; NF-kappaB binding [GO:0051059]; p53 binding [GO:0002039]; promoter-specific chromatin binding [GO:1990841]; protein deacetylase activity [GO:0033558]; protein N-terminus binding [GO:0047485]; repressing transcription factor binding [GO:0070491]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II repressing transcription factor binding [GO:0001103]; RNA polymerase II transcription factor binding [GO:0001085]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; ATP-dependent chromatin remodeling [GO:0043044]; beta-catenin-TCF complex assembly [GO:1904837]; blood coagulation [GO:0007596]; chromatin organization [GO:0006325]; chromatin remodeling [GO:0006338]; circadian regulation of gene expression [GO:0032922]; embryonic digit morphogenesis [GO:0042733]; endoderm development [GO:0007492]; epidermal cell differentiation [GO:0009913]; eyelid development in camera-type eye [GO:0061029]; fungiform papilla formation [GO:0061198]; hair follicle placode formation [GO:0060789]; hippocampus development [GO:0021766]; histone deacetylation [GO:0016575]; histone H3 deacetylation [GO:0070932]; histone H4 deacetylation [GO:0070933]; methylation-dependent chromatin silencing [GO:0006346]; negative regulation by host of viral transcription [GO:0043922]; negative regulation of androgen receptor signaling pathway [GO:0060766]; negative regulation of apoptotic process [GO:0043066]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of gene expression [GO:0010629]; negative regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043124]; negative regulation of intrinsic apoptotic signaling pathway [GO:2001243]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; neuron differentiation [GO:0030182]; odontogenesis of dentin-containing tooth [GO:0042475]; positive regulation of cell proliferation [GO:0008284]; positive regulation of oligodendrocyte differentiation [GO:0048714]; positive regulation of receptor biosynthetic process [GO:0010870]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; protein deacetylation [GO:0006476]; regulation of megakaryocyte differentiation [GO:0045652]


uniprotID: O15327
geneSymbol: INPP4B
reactome: R-HSA-1660499;R-HSA-1660516;R-HSA-1855183;
length: 924
go: ENSG00000109452;
snps: rs1064226
name:
Type II inositol 3,4-bisphosphate 4-phosphatase (EC 3.1.3.66) (Inositol polyphosphate 4-phosphatase type II)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; inositol-1,3,4-trisphosphate 4-phosphatase activity [GO:0017161]; inositol-3,4-bisphosphate 4-phosphatase activity [GO:0052828]; phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity [GO:0016316]; phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity [GO:0034597]; inositol phosphate metabolic process [GO:0043647]; phosphatidylinositol biosynthetic process [GO:0006661]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O15327-1; Sequence=Displayed; Name=2; Synonyms=stubby; IsoId=O15327-2; Sequence=VSP_047696, VSP_047697; 


uniprotID: Q96DU7
geneSymbol: ITPKC
reactome: R-HSA-1855204;
pdb: 2A98;
length: 683
go: ENSG00000086544;
name:
Inositol-trisphosphate 3-kinase C (EC 2.7.1.127) (Inositol 1,4,5-trisphosphate 3-kinase C) (IP3 3-kinase C) (IP3K C) (InsP 3-kinase C)

sequence:

opentargets:
cytosol [GO:0005829]; nuclear speck [GO:0016607]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; inositol-1,4,5-trisphosphate 3-kinase activity [GO:0008440]; inositol phosphate biosynthetic process [GO:0032958]; inositol phosphate metabolic process [GO:0043647]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12747803}. Cytoplasm {ECO:0000269|PubMed:12747803}. Note=Shuttles actively between nucleus and cytoplasm with both nuclear import and nuclear export activity.


uniprotID: Q02577
geneSymbol: NHLH2
length: 135
go: ENSG00000177551;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}.
name:
Helix-loop-helix protein 2 (HEN-2) (Class A basic helix-loop-helix protein 34) (bHLHa34) (Nescient helix loop helix 2) (NSCL-2)

sequence:
MMLSPDQAADSDHPSSAHSDPESLGGTDTKVLGSVSDLEPVEEAEGDGKGGSRAALYPHPQQLSREEKRRRRRATAKYRSAHATRERIRVEAFNLAFAELRKLLPTLPPDKKLSKIEILRLAICYISYLNHVLDV

opentargets:
nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II activating transcription factor binding [GO:0001102]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; cell differentiation [GO:0030154]; central nervous system development [GO:0007417]; mating behavior [GO:0007617]; ovulation cycle [GO:0042698]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: Q96PC2
geneSymbol: IP6K3
reactome: R-HSA-1855167;
name: Inositol hexakisphosphate kinase 3 (InsP6 kinase 3) (EC 2.7.4.21) (Inositol hexaphosphate kinase 3)
length: 410
go: ENSG00000161896;
snps: rs34431226 rs34573836 rs4713668 rs34343647
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11502751}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; ATP binding [GO:0005524]; inositol 5-diphosphate pentakisphosphate 5-kinase activity [GO:0052836]; inositol diphosphate tetrakisphosphate kinase activity [GO:0052839]; inositol heptakisphosphate kinase activity [GO:0000829]; inositol hexakisphosphate 1-kinase activity [GO:0052723]; inositol hexakisphosphate 3-kinase activity [GO:0052724]; inositol hexakisphosphate 5-kinase activity [GO:0000832]; inositol hexakisphosphate 6-kinase activity [GO:0000831]; inositol hexakisphosphate kinase activity [GO:0000828]; inositol-1,3,4,5,6-pentakisphosphate kinase activity [GO:0000827]; inositol phosphate biosynthetic process [GO:0032958]; inositol phosphate metabolic process [GO:0043647]; phosphatidylinositol metabolic process [GO:0046488]; protein phosphorylation [GO:0006468]


uniprotID: Q5T8I9
geneSymbol: HENMT1
reactome: R-HSA-5601884;
pdb: 4XCX;5WY0;
name: Small RNA 2'-O-methyltransferase (EC 2.1.1.n8) (HEN1 methyltransferase homolog 1)
length: 393
go: ENSG00000162639;
snps: rs9988420 rs35974434 rs17850887
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; P granule [GO:0043186]; metal ion binding [GO:0046872]; O-methyltransferase activity [GO:0008171]; RNA binding [GO:0003723]; RNA methyltransferase activity [GO:0008173]; piRNA metabolic process [GO:0034587]; production of siRNA involved in RNA interference [GO:0030422]; RNA methylation [GO:0001510]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q568P9}. Note=Component of the meiotic nuage, also named P granule, a germ-cell-specific organelle required to repress transposon activity during meiosis. {ECO:0000250|UniProtKB:Q568P9}.


uniprotID: P81172
geneSymbol: HAMP
pdb: 1M4E;1M4F;2KEF;3H0T;4QAE;
sequence: MALSSQIWAACLLLLLLLASLTSGSVFPQQTGQLAELQPQDRAGARASWMPMFQRRRRRDTHFPICIFCCGCCHRSKCGMCCKT
length: 84
go: ENSG00000105697;
snps: rs779021719 rs104894696
location: SUBCELLULAR LOCATION: Secreted.
name:
Hepcidin (Liver-expressed antimicrobial peptide 1) (LEAP-1) (Putative liver tumor regressor) (PLTR) [Cleaved into: Hepcidin-25 (Hepc25); Hepcidin-20 (Hepc20)]

opentargets:
apical cortex [GO:0045179]; cell [GO:0005623]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; intercalated disc [GO:0014704]; hormone activity [GO:0005179]; iron channel inhibitor activity [GO:0097690]; signaling receptor binding [GO:0005102]; acute-phase response [GO:0006953]; aging [GO:0007568]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; cellular iron ion homeostasis [GO:0006879]; cellular response to bile acid [GO:1903413]; cellular response to interleukin-6 [GO:0071354]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to tumor necrosis factor [GO:0071356]; cellular response to X-ray [GO:0071481]; defense response to bacterium [GO:0042742]; defense response to fungus [GO:0050832]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; immune response [GO:0006955]; killing of cells of other organism [GO:0031640]; liver regeneration [GO:0097421]; multicellular organismal iron ion homeostasis [GO:0060586]; negative regulation of ferrous iron export [GO:1904039]; negative regulation of intestinal absorption [GO:1904479]; negative regulation of ion transmembrane transporter activity [GO:0032413]; negative regulation of iron channel activity [GO:1904255]; negative regulation of iron ion transmembrane transport [GO:0034760]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of cell growth involved in cardiac muscle cell development [GO:0061051]; positive regulation of protein polyubiquitination [GO:1902916]; positive regulation of receptor catabolic process [GO:2000646]; positive regulation of receptor internalization [GO:0002092]; response to erythropoietin [GO:0036017]; response to ethanol [GO:0045471]; response to iron ion [GO:0010039]; response to iron ion starvation [GO:1990641]; response to vitamin A [GO:0033189]; response to zinc ion [GO:0010043]


uniprotID: O95714
geneSymbol: HERC2
reactome: R-HSA-3108214;R-HSA-5693565;R-HSA-5693571;R-HSA-5693607;R-HSA-69473;R-HSA-983168;
pdb: 2KEO;3KCI;4L1M;
length: 4834
go: ENSG00000128731;
snps: rs397518474
name:
E3 ubiquitin-protein ligase HERC2 (EC 2.3.2.26) (HECT domain and RCC1-like domain-containing protein 2) (HECT-type E3 ubiquitin transferase HERC2)

sequence:

opentargets:
centriole [GO:0005814]; cytoplasm [GO:0005737]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; guanyl-nucleotide exchange factor activity [GO:0005085]; SUMO binding [GO:0032183]; ubiquitin protein ligase binding [GO:0031625]; ubiquitin-protein transferase activity [GO:0004842]; zinc ion binding [GO:0008270]; cellular response to DNA damage stimulus [GO:0006974]; double-strand break repair via nonhomologous end joining [GO:0006303]; intracellular protein transport [GO:0006886]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein ubiquitination [GO:0016567]; spermatogenesis [GO:0007283]

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Nucleus. Note=Recruited to sites of DNA damage in response to ionizing radiation (IR) via its interaction with RNF8. May loose association with centrosomes during mitosis.


uniprotID: Q9BQS7
geneSymbol: HEPH
reactome: R-HSA-425410;R-HSA-917937;
name: Hephaestin (EC 1.-.-.-)
length: 1158
go: ENSG00000089472;
snps: rs17216603
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; intracellular [GO:0005622]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; copper ion binding [GO:0005507]; ferrous iron binding [GO:0008198]; ferroxidase activity [GO:0004322]; oxidoreductase activity, oxidizing metal ions [GO:0016722]; cellular iron ion homeostasis [GO:0006879]; copper ion transport [GO:0006825]; iron ion transport [GO:0006826]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9BQS7-1; Sequence=Displayed; Name=2; IsoId=Q9BQS7-2; Sequence=VSP_011627; Name=3; IsoId=Q9BQS7-3; Sequence=VSP_047331; Note=No experimental confirmation available.; Name=4; IsoId=Q9BQS7-4; Sequence=VSP_047332; Note=No experimental confirmation available.; 


uniprotID: Q9UII4
geneSymbol: HERC5
reactome: R-HSA-1169408;R-HSA-168928;R-HSA-936440;R-HSA-983168;
length: 1024
go: ENSG00000138646;
snps: rs17014143
name:
E3 ISG15--protein ligase HERC5 (EC 2.3.2.-) (Cyclin-E-binding protein 1) (HECT domain and RCC1-like domain-containing protein 5)

sequence:

opentargets:
cytosol [GO:0005829]; perinuclear region of cytoplasm [GO:0048471]; ISG15 transferase activity [GO:0042296]; RNA binding [GO:0003723]; ubiquitin-protein transferase activity [GO:0004842]; defense response to virus [GO:0051607]; innate immune response [GO:0045087]; ISG15-protein conjugation [GO:0032020]; negative regulation of type I interferon production [GO:0032480]; protein polyubiquitination [GO:0000209]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; regulation of defense response to virus [GO:0050688]

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000269|PubMed:20542004}. Note=Associated with the polyribosomes, probably via the 60S subunit.


uniprotID: P07686
geneSymbol: HEXB
reactome: R-HSA-1660662;R-HSA-2022857;R-HSA-2024101;R-HSA-2160916;R-HSA-3656248;R-HSA-6798695;
pdb: 1NOU;1NOW;1NP0;1O7A;1QBD;2GJX;2GK1;3LMY;5BRO;
length: 556
snps: rs820878 rs11556045 rs10805890 rs28942073
location: SUBCELLULAR LOCATION: Lysosome.
name:
Beta-hexosaminidase subunit beta (EC 3.2.1.52) (Beta-N-acetylhexosaminidase subunit beta) (Hexosaminidase subunit B) (Cervical cancer proto-oncogene 7 protein) (HCC-7) (N-acetyl-beta-glucosaminidase subunit beta) [Cleaved into: Beta-hexosaminidase subunit beta chain B; Beta-hexosaminidase subunit beta chain A]

sequence:

opentargets:
acrosomal vesicle [GO:0001669]; azurophil granule [GO:0042582]; azurophil granule lumen [GO:0035578]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; lysosomal lumen [GO:0043202]; membrane [GO:0016020]; acetylglucosaminyltransferase activity [GO:0008375]; beta-N-acetylhexosaminidase activity [GO:0004563]; N-acetyl-beta-D-galactosaminidase activity [GO:0102148]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; astrocyte cell migration [GO:0043615]; cellular calcium ion homeostasis [GO:0006874]; cellular protein metabolic process [GO:0044267]; chondroitin sulfate catabolic process [GO:0030207]; ganglioside catabolic process [GO:0006689]; glycosphingolipid metabolic process [GO:0006687]; hyaluronan catabolic process [GO:0030214]; keratan sulfate catabolic process [GO:0042340]; lipid storage [GO:0019915]; locomotory behavior [GO:0007626]; lysosome organization [GO:0007040]; male courtship behavior [GO:0008049]; myelination [GO:0042552]; neuromuscular process controlling balance [GO:0050885]; neutrophil degranulation [GO:0043312]; oligosaccharide catabolic process [GO:0009313]; oogenesis [GO:0048477]; penetration of zona pellucida [GO:0007341]; phospholipid biosynthetic process [GO:0008654]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of cell shape [GO:0008360]; sensory perception of sound [GO:0007605]; skeletal system development [GO:0001501]


uniprotID: Q9HCC6
geneSymbol: HES4
length: 221
go: ENSG00000188290;
name:
Transcription factor HES-4 (hHES4) (Class B basic helix-loop-helix protein 42) (bHLHb42) (Hairy and enhancer of split 4) (bHLH factor Hes4)

sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; sequence-specific double-stranded DNA binding [GO:1990837]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; cell differentiation [GO:0030154]; Notch signaling pathway [GO:0007219]; regulation of neurogenesis [GO:0050767]; somitogenesis [GO:0001756]


uniprotID: P61925
geneSymbol: PKIA
sequence: MTDVETTYADFIASGRTGRRNAIHDILVSSASGNSNELALKLAGLDINKTEGEEDAQRSSTEQSGEAQGEAAKSES
length: 76
go: ENSG00000171033;
pdb:
1CMK;1JLU;1Q8T;1VEB;1XH4;1XH5;1XH6;1XH7;1XH8;1XH9;1XHA;1YDR;2C1A;2C1B;2F7E;2GNI;2JDS;2JDT;2JDV;2L1L;2UVX;2UVY;2UVZ;2UW0;2UW3;2UW4;2UW5;2UW6;2UW7;2UW8;2VNW;2VNY;2VO0;2VO3;2VO6;2VO7;3AMA;3AMB;3L9L;3L9M;3L9N;3MVJ;3NX8;3OOG;3OVV;3OWP;3OXT;3P0M;3POO;3VQH;3WYG;3X2U;3X2V;3X2W;4AXA;4IAC;4IAD;4IAF;4IAI;4IAK;4IAY;4IAZ;4IB0;4IB1;4IB3;4IE9;4IJ9;4O21;4O22;4UJ1;4UJ2;4UJ9;4UJA;4UJB;4WB5;4WB6;4WB7;4WB8;4Z83;4Z84;5BX6;5BX7;5DH9;5LCP;5LCQ;5LCR;5LCT;5LCU;5M0B;5M0C;5M0L;5M0U;5M6V;5M6Y;5M71;5M75;5N23;5XOJ;

name:
cAMP-dependent protein kinase inhibitor alpha (PKI-alpha) (cAMP-dependent protein kinase inhibitor, muscle/brain isoform)

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; cAMP-dependent protein kinase inhibitor activity [GO:0004862]; protein kinase A catalytic subunit binding [GO:0034236]; negative regulation of cAMP-dependent protein kinase activity [GO:2000480]; negative regulation of protein import into nucleus [GO:0042308]; negative regulation of transcription by RNA polymerase II [GO:0000122]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]

drug:
DB07107;DB06959;DB07857;DB07860;DB08073;DB08568;DB07858;DB08756;DB07855;DB07876;DB08070;DB08113;DB07859;DB07996;DB07856;DB04707;DB07947;DB08231;DB07995;DB07997;DB07854;


uniprotID: A2PYH4
geneSymbol: HFM1
name: Probable ATP-dependent DNA helicase HFM1 (EC 3.6.4.12) (SEC63 domain-containing protein 1)
length: 1435
go: ENSG00000162669;
snps: rs11165778 rs282009 rs587777269 rs587777268 rs11584478
sequence:

opentargets:
ATP binding [GO:0005524]; helicase activity [GO:0004386]; nucleic acid binding [GO:0003676]; resolution of meiotic recombination intermediates [GO:0000712]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A2PYH4-1; Sequence=Displayed; Name=2; IsoId=A2PYH4-2; Sequence=VSP_032249, VSP_032250, VSP_032251; 


uniprotID: P41236
geneSymbol: PPP1R2
name: Protein phosphatase inhibitor 2 (IPP-2)
length: 205
go: ENSG00000184203;
sequence:

opentargets:
protein phosphatase inhibitor activity [GO:0004864]; protein serine/threonine phosphatase inhibitor activity [GO:0004865]; generation of precursor metabolites and energy [GO:0006091]; glycogen metabolic process [GO:0005977]; regulation of phosphoprotein phosphatase activity [GO:0043666]; regulation of signal transduction [GO:0009966]


uniprotID: Q8IWB1
geneSymbol: ITPRIP
name: Inositol 1,4,5-trisphosphate receptor-interacting protein (Protein DANGER)
length: 547
go: ENSG00000148841;
opentargets: membrane [GO:0016020]; plasma membrane [GO:0005886]
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:16990268}.
sequence:


uniprotID: Q04756
geneSymbol: HGFAC
reactome: R-HSA-6806942;
pdb: 1YBW;1YC0;2R0K;2R0L;2WUB;2WUC;3K2U;
length: 655
go: ENSG00000109758;
snps: rs3748034 rs16844370 rs1987546 rs16844401 rs2498323
name:
Hepatocyte growth factor activator (HGF activator) (HGFA) (EC 3.4.21.-) [Cleaved into: Hepatocyte growth factor activator short chain; Hepatocyte growth factor activator long chain]

sequence:

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; rough endoplasmic reticulum [GO:0005791]; serine-type endopeptidase activity [GO:0004252]; serine-type peptidase activity [GO:0008236]; proteolysis [GO:0006508]

location:
SUBCELLULAR LOCATION: Secreted. Note=Secreted as an inactive single-chain precursor and is then activated to a heterodimeric form.


uniprotID: P26927
geneSymbol: MST1
reactome: R-HSA-8852405;
pdb: 2ASU;4QT8;
length: 711
snps: rs6791037 rs3197999
location: SUBCELLULAR LOCATION: Secreted.
name:
Hepatocyte growth factor-like protein (Macrophage stimulatory protein) (Macrophage-stimulating protein) (MSP) [Cleaved into: Hepatocyte growth factor-like protein alpha chain; Hepatocyte growth factor-like protein beta chain]

sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; receptor tyrosine kinase binding [GO:0030971]; serine-type endopeptidase activity [GO:0004252]; hepatocyte growth factor receptor signaling pathway [GO:0048012]; negative regulation of gluconeogenesis [GO:0045721]; positive regulation of mammary gland epithelial cell proliferation [GO:0033601]; regulation of cAMP-dependent protein kinase activity [GO:2000479]; regulation of macrophage chemotaxis [GO:0010758]


uniprotID: Q6NVY1
geneSymbol: HIBCH
reactome: R-HSA-70895;
pdb: 3BPT;
length: 386
go: ENSG00000198130;
drug: DB04216;
snps: rs1058180 rs121918329
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250}.
name:
3-hydroxyisobutyryl-CoA hydrolase, mitochondrial (EC 3.1.2.4) (3-hydroxyisobutyryl-coenzyme A hydrolase) (HIB-CoA hydrolase) (HIBYL-CoA-H)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; 3-hydroxyisobutyryl-CoA hydrolase activity [GO:0003860]; branched-chain amino acid catabolic process [GO:0009083]; fatty acid beta-oxidation [GO:0006635]; valine catabolic process [GO:0006574]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6NVY1-1; Sequence=Displayed; Name=2; IsoId=Q6NVY1-2; Sequence=VSP_024780; Note=No experimental confirmation available.; 


uniprotID: Q16665
geneSymbol: HIF1A
pdb: 1D7G;1H2K;1H2L;1H2M;1L3E;1L8C;1LM8;1LQB;2ILM;3HQR;3HQU;4AJY;4H6J;5JWP;5L9B;5L9V;5LA9;5LAS;
length: 826
go: ENSG00000100644;
drug: DB02342;DB01136;DB08687;
snps: rs11549465 rs11549467 rs1802821
reactome:
R-HSA-1234158;R-HSA-1234162;R-HSA-1234176;R-HSA-2122947;R-HSA-400253;R-HSA-5689880;R-HSA-6785807;R-HSA-8849473;R-HSA-8857538;R-HSA-8951664;

name:
Hypoxia-inducible factor 1-alpha (HIF-1-alpha) (HIF1-alpha) (ARNT-interacting protein) (Basic-helix-loop-helix-PAS protein MOP1) (Class E basic helix-loop-helix protein 78) (bHLHe78) (Member of PAS protein 1) (PAS domain-containing protein 8)

sequence:

opentargets:
axon cytoplasm [GO:1904115]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; motile cilium [GO:0031514]; nuclear body [GO:0016604]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; RNA polymerase II transcription factor complex [GO:0090575]; transcription factor complex [GO:0005667]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; E-box binding [GO:0070888]; enzyme binding [GO:0019899]; histone acetyltransferase binding [GO:0035035]; histone deacetylase binding [GO:0042826]; Hsp90 protein binding [GO:0051879]; nuclear hormone receptor binding [GO:0035257]; p53 binding [GO:0002039]; protein domain specific binding [GO:0019904]; protein heterodimerization activity [GO:0046982]; protein kinase binding [GO:0019901]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; transcription factor binding [GO:0008134]; ubiquitin protein ligase binding [GO:0031625]; angiogenesis [GO:0001525]; axonal transport of mitochondrion [GO:0019896]; B-1 B cell homeostasis [GO:0001922]; cardiac ventricle morphogenesis [GO:0003208]; cartilage development [GO:0051216]; cellular iron ion homeostasis [GO:0006879]; cellular response to hypoxia [GO:0071456]; cellular response to interleukin-1 [GO:0071347]; cerebral cortex development [GO:0021987]; collagen metabolic process [GO:0032963]; connective tissue replacement involved in inflammatory response wound healing [GO:0002248]; cytokine-mediated signaling pathway [GO:0019221]; digestive tract morphogenesis [GO:0048546]; dopaminergic neuron differentiation [GO:0071542]; elastin metabolic process [GO:0051541]; embryonic hemopoiesis [GO:0035162]; embryonic placenta development [GO:0001892]; epithelial cell differentiation involved in mammary gland alveolus development [GO:0061030]; epithelial to mesenchymal transition [GO:0001837]; glucose homeostasis [GO:0042593]; heart looping [GO:0001947]; hemoglobin biosynthetic process [GO:0042541]; hypoxia-inducible factor-1alpha signaling pathway [GO:0097411]; intestinal epithelial cell maturation [GO:0060574]; iris morphogenesis [GO:0061072]; lactate metabolic process [GO:0006089]; lactation [GO:0007595]; mRNA transcription by RNA polymerase II [GO:0042789]; muscle cell cellular homeostasis [GO:0046716]; negative regulation of bone mineralization [GO:0030502]; negative regulation of gene expression [GO:0010629]; negative regulation of growth [GO:0045926]; negative regulation of mesenchymal cell apoptotic process [GO:2001054]; negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway [GO:1903377]; negative regulation of reactive oxygen species metabolic process [GO:2000378]; negative regulation of thymocyte apoptotic process [GO:0070244]; negative regulation of TOR signaling [GO:0032007]; neural crest cell migration [GO:0001755]; neural fold elevation formation [GO:0021502]; outflow tract morphogenesis [GO:0003151]; oxygen homeostasis [GO:0032364]; positive regulation of angiogenesis [GO:0045766]; positive regulation of autophagy of mitochondrion [GO:1903599]; positive regulation of blood vessel endothelial cell migration [GO:0043536]; positive regulation of chemokine production [GO:0032722]; positive regulation of chemokine-mediated signaling pathway [GO:0070101]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of epithelial cell migration [GO:0010634]; positive regulation of erythrocyte differentiation [GO:0045648]; positive regulation of gene expression [GO:0010628]; positive regulation of glycolytic process [GO:0045821]; positive regulation of hormone biosynthetic process [GO:0046886]; positive regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0035774]; positive regulation of macroautophagy [GO:0016239]; positive regulation of neuroblast proliferation [GO:0002052]; positive regulation of nitric-oxide synthase activity [GO:0051000]; positive regulation of pri-miRNA transcription by RNA polymerase II [GO:1902895]; positive regulation of receptor biosynthetic process [GO:0010870]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription from RNA polymerase II promoter in response to hypoxia [GO:0061419]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of vascular endothelial growth factor production [GO:0010575]; positive regulation of vascular endothelial growth factor receptor signaling pathway [GO:0030949]; post-translational protein modification [GO:0043687]; protein deubiquitination [GO:0016579]; regulation of aerobic respiration [GO:1903715]; regulation of gene expression [GO:0010468]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription from RNA polymerase II promoter in response to hypoxia [GO:0061418]; regulation of transcription from RNA polymerase II promoter in response to oxidative stress [GO:0043619]; regulation of transcription, DNA-templated [GO:0006355]; regulation of transforming growth factor beta2 production [GO:0032909]; response to hypoxia [GO:0001666]; response to iron ion [GO:0010039]; response to muscle activity [GO:0014850]; retina vasculature development in camera-type eye [GO:0061298]; signal transduction [GO:0007165]; transcription by RNA polymerase II [GO:0006366]; vascular endothelial growth factor production [GO:0010573]; visual learning [GO:0008542]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q16665-1; Sequence=Displayed; Name=2; IsoId=Q16665-2; Sequence=VSP_047335, VSP_007738; Note=No experimental confirmation available.; Name=3; Synonyms=I.3; IsoId=Q16665-3; Sequence=VSP_044942; Note=Up-regulated in peripheral T-lymphocytes after T-cell receptor stimulation. Highest expression in peripheral blood leukocytes and thymus.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9822602}. Nucleus {ECO:0000269|PubMed:22009797, ECO:0000269|PubMed:9822602}. Nucleus speckle {ECO:0000250|UniProtKB:Q61221}. Note=Colocalizes with HIF3A in the nucleus and speckles (By similarity). Cytoplasmic in normoxia, nuclear translocation in response to hypoxia (PubMed:9822602). {ECO:0000250|UniProtKB:Q61221}.


uniprotID: Q9BX68
geneSymbol: HINT2
pdb: 4INC;4INI;4NJX;4NJY;4NJZ;4NK0;5KM5;5KM8;5KM9;
length: 163
go: ENSG00000137133;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:16762638, ECO:0000269|PubMed:18653718}.
name:
Histidine triad nucleotide-binding protein 2, mitochondrial (HINT-2) (EC 3.-.-.-) (HINT-3) (HIT-17kDa) (PKCI-1-related HIT protein)

sequence:
MAAAVVLAAGLRAARRAVAATGVRGGQVRGAAGVTDGNEVAKAQQATPGGAAPTIFSRILDKSLPADILYEDQQCLVFRDVAPQAPVHFLVIPKKPIPRISQAEEEDQQLLGHLLLVAKQTAKAEGLGDGYRLVINDGKLGAQSVYHLHIHVLGGRQLQWPPG

opentargets:
mitochondrion [GO:0005739]; nucleolus [GO:0005730]; hydrolase activity [GO:0016787]; nucleotide binding [GO:0000166]; apoptotic process [GO:0006915]; lipid catabolic process [GO:0016042]; negative regulation of peptidyl-lysine acetylation [GO:2000757]; steroid biosynthetic process [GO:0006694]


uniprotID: Q13568
geneSymbol: IRF5
reactome: R-HSA-877300;R-HSA-909733;
pdb: 3DSH;
name: Interferon regulatory factor 5 (IRF-5)
length: 498
go: ENSG00000128604;
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Shuttles between the nucleus and the cytoplasm.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; identical protein binding [GO:0042802]; sequence-specific DNA binding [GO:0043565]; transcription regulatory region DNA binding [GO:0044212]; defense response to virus [GO:0051607]; interferon-gamma-mediated signaling pathway [GO:0060333]; positive regulation of apoptotic process [GO:0043065]; positive regulation of interferon-alpha production [GO:0032727]; positive regulation of interferon-beta production [GO:0032728]; positive regulation of interleukin-12 production [GO:0032735]; positive regulation of transcription by RNA polymerase II [GO:0045944]; response to muramyl dipeptide [GO:0032495]; response to peptidoglycan [GO:0032494]; type I interferon signaling pathway [GO:0060337]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q13568-1; Sequence=Displayed; Name=2; IsoId=Q13568-2; Sequence=VSP_041375; Name=3; IsoId=Q13568-3; Sequence=VSP_043924; Name=4; IsoId=Q13568-4; Sequence=VSP_043925; Name=5; IsoId=Q13568-5; Sequence=VSP_044822; Name=6; IsoId=Q13568-6; Sequence=VSP_053330, VSP_053331; 


uniprotID: Q02556
geneSymbol: IRF8
reactome: R-HSA-877300;R-HSA-909733;
length: 426
go: ENSG00000140968;
snps: rs397514711 rs397514710
name:
Interferon regulatory factor 8 (IRF-8) (Interferon consensus sequence-binding protein) (H-ICSBP) (ICSBP)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; autophagy [GO:0006914]; cellular response to interferon-gamma [GO:0071346]; cellular response to lipopolysaccharide [GO:0071222]; defense response to bacterium [GO:0042742]; defense response to protozoan [GO:0042832]; immune response [GO:0006955]; interferon-gamma-mediated signaling pathway [GO:0060333]; myeloid cell differentiation [GO:0030099]; negative regulation of growth of symbiont in host [GO:0044130]; negative regulation of transcription by RNA polymerase II [GO:0000122]; phagocytosis [GO:0006909]; positive regulation of interferon-gamma production [GO:0032729]; positive regulation of interleukin-12 production [GO:0032735]; positive regulation of transcription by RNA polymerase II [GO:0045944]; type I interferon signaling pathway [GO:0060337]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23166356, ECO:0000269|PubMed:25122610}. Cytoplasm {ECO:0000269|PubMed:25122610}. Note=In resting macrophages, localizes in the cytoplasm. Translocated in the nucleus upon IFN-gamma induction. {ECO:0000269|PubMed:25122610}.


uniprotID: Q8NCD3
geneSymbol: HJURP
reactome: R-HSA-606279;
pdb: 3R45;
length: 748
go: ENSG00000123485;
snps: rs2302154 rs2286430 rs3806589 rs3732215 rs17863822 rs3821238 rs3771333 rs12582 rs10511
name:
Holliday junction recognition protein (14-3-3-associated AKT substrate) (Fetal liver-expressing gene 1 protein) (Up-regulated in lung cancer 9)

sequence:

opentargets:
chromosome, centromeric region [GO:0000775]; condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; histone binding [GO:0042393]; identical protein binding [GO:0042802]; cell cycle [GO:0007049]; CENP-A containing nucleosome assembly [GO:0034080]; chromosome segregation [GO:0007059]; regulation of DNA binding [GO:0051101]; regulation of protein complex assembly [GO:0043254]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NCD3-1; Sequence=Displayed; Name=2; IsoId=Q8NCD3-2; Sequence=VSP_037468; Note=No experimental confirmation available.; Name=3; IsoId=Q8NCD3-3; Sequence=VSP_037467; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus. Chromosome, centromere. Note=Localizes in centromeres during late telophase and early G1, when CENPA nucleosomes are assembled. Localizes to nucleolus during S phase, nucleolus site being often related to storage.


uniprotID: P13747
geneSymbol: HLA-E
pdb: 1KPR;1KTL;1MHE;2ESV;3AM8;3BZE;3BZF;3CDG;3CII;5W1V;5W1W;
name: HLA class I histocompatibility antigen, alpha chain E (MHC class I antigen E)
length: 358
snps: rs1059510 rs1264457 rs41562314
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
reactome:
R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-2172127;R-HSA-2424491;R-HSA-877300;R-HSA-909733;R-HSA-983170;

sequence:

opentargets:
cell surface [GO:0009986]; early endosome membrane [GO:0031901]; ER to Golgi transport vesicle membrane [GO:0012507]; extracellular exosome [GO:0070062]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; MHC class I protein complex [GO:0042612]; MHC class Ib protein complex [GO:0032398]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; beta-2-microglobulin binding [GO:0030881]; MHC class I protein binding [GO:0042288]; natural killer cell lectin-like receptor binding [GO:0046703]; peptide antigen binding [GO:0042605]; signaling receptor binding [GO:0005102]; T cell receptor binding [GO:0042608]; adaptive immune response [GO:0002250]; antibacterial humoral response [GO:0019731]; antigen processing and presentation of endogenous peptide antigen via MHC class Ib [GO:0002476]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent [GO:0002480]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; CD8-positive, alpha-beta T cell activation [GO:0036037]; defense response to Gram-positive bacterium [GO:0050830]; immune response [GO:0006955]; innate immune response [GO:0045087]; interferon-gamma-mediated signaling pathway [GO:0060333]; positive regulation of CD8-positive, alpha-beta T cell proliferation [GO:2000566]; positive regulation of immunoglobulin secretion [GO:0051024]; positive regulation of interleukin-13 production [GO:0032736]; positive regulation of interleukin-4 production [GO:0032753]; positive regulation of natural killer cell mediated immunity [GO:0002717]; positive regulation of T cell mediated cytotoxicity [GO:0001916]; positive regulation of TRAIL production [GO:0032759]; positive regulation of tumor necrosis factor production [GO:0032760]; protection from natural killer cell mediated cytotoxicity [GO:0042270]; regulation of immune response [GO:0050776]; regulation of natural killer cell mediated immunity [GO:0002715]; type I interferon signaling pathway [GO:0060337]


uniprotID: Q14527
geneSymbol: HLTF
reactome: R-HSA-8866654;
pdb: 2MZN;4HRE;4HRH;4S0N;4XZF;4XZG;5BNH;5K5F;
length: 1009
go: ENSG00000071794;
snps: rs2305868 rs2228257 rs2229361
name:
Helicase-like transcription factor (EC 2.3.2.27) (EC 3.6.4.-) (DNA-binding protein/plasminogen activator inhibitor 1 regulator) (HIP116) (RING finger protein 80) (RING-type E3 ubiquitin transferase HLTF) (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 3) (Sucrose nonfermenting protein 2-like 3)

sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; DNA binding [GO:0003677]; helicase activity [GO:0004386]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA binding [GO:0003723]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin protein ligase binding [GO:0031625]; zinc ion binding [GO:0008270]; chromatin organization [GO:0006325]; protein ubiquitination [GO:0016567]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=2;  Name=1; IsoId=Q14527-1; Sequence=Displayed; Name=2; IsoId=Q14527-2; Sequence=VSP_018873; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000269|PubMed:8672239}. Nucleus, nucleolus {ECO:0000250}. Nucleus, nucleoplasm {ECO:0000250}. Note=Nuclear localization is stimulated by progesterone. {ECO:0000250}.


uniprotID: P82970
geneSymbol: HMGN5
name: High mobility group nucleosome-binding domain-containing protein 5 (Nucleosome-binding protein 1)
length: 282
go: ENSG00000198157;
sequence:

opentargets:
chromatin [GO:0000785]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; nucleosomal DNA binding [GO:0031492]; RNA binding [GO:0003723]; chromatin organization [GO:0006325]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell cycle arrest [GO:0071157]; positive regulation of cell proliferation [GO:0008284]; positive regulation of gene expression [GO:0010628]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of transcription, DNA-templated [GO:0006355]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11161810}. Note=Associates with nucleosomes in euchromatin and is largely excluded from constitutive heterochromatin. {ECO:0000250}.


uniprotID: Q96S16
geneSymbol: JMJD8
name: JmjC domain-containing protein 8 (Jumonji domain-containing protein 8)
length: 264
go: ENSG00000161999;
sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; nucleus [GO:0005634]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of sprouting angiogenesis [GO:1903672]; regulation of glycolytic process [GO:0006110]; regulation of pyruvate kinase activity [GO:1903302]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96S16-1; Sequence=Displayed; Name=2; IsoId=Q96S16-2; Sequence=VSP_034849; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000269|PubMed:29133832}. Cytoplasm {ECO:0000269|PubMed:27199445}.


uniprotID: P52926
geneSymbol: HMGA2
reactome: R-HSA-2559584;
name: High mobility group protein HMGI-C (High mobility group AT-hook protein 2)
length: 109
go: ENSG00000149948;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:
MSARGEGAGQPSTSAQGQPAAPAPQKRGRGRPRKQQQEPTGEPSPKRPRGRPKGSKNKSPSKAAQKKAEATGEKRPRGRPRKWPQQVVQKKPAQEETEETSSQESAEED

opentargets:
nuclear chromosome [GO:0000228]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-DNA complex [GO:0032993]; senescence-associated heterochromatin focus [GO:0035985]; SMAD protein complex [GO:0071141]; 5'-deoxyribose-5-phosphate lyase activity [GO:0051575]; AT DNA binding [GO:0003680]; C2H2 zinc finger domain binding [GO:0070742]; cAMP response element binding [GO:0035497]; DNA binding [GO:0003677]; DNA binding, bending [GO:0008301]; DNA-(apurinic or apyrimidinic site) endonuclease activity [GO:0003906]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-dependent protein kinase activity [GO:0004677]; MH1 domain binding [GO:0035501]; MH2 domain binding [GO:0035500]; nucleosomal DNA binding [GO:0031492]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; SMAD binding [GO:0046332]; transcription coregulator activity [GO:0003712]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; base-excision repair [GO:0006284]; cell division [GO:0051301]; chondrocyte differentiation [GO:0002062]; chondrocyte proliferation [GO:0035988]; chromatin organization [GO:0006325]; chromosome breakage [GO:0031052]; chromosome condensation [GO:0030261]; DNA damage response, detection of DNA damage [GO:0042769]; endodermal cell differentiation [GO:0035987]; epithelial to mesenchymal transition [GO:0001837]; fat cell differentiation [GO:0045444]; heterochromatin assembly [GO:0031507]; histone H2A-S139 phosphorylation [GO:0035978]; mesenchymal cell differentiation [GO:0048762]; mesodermal cell differentiation [GO:0048333]; mesodermal-endodermal cell signaling [GO:0003131]; mitotic G2 DNA damage checkpoint [GO:0007095]; multicellular organism development [GO:0007275]; negative regulation by host of viral transcription [GO:0043922]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cellular senescence [GO:2000773]; negative regulation of DNA binding [GO:0043392]; negative regulation of double-strand break repair via nonhomologous end joining [GO:2001033]; negative regulation of single stranded viral RNA replication via double stranded DNA intermediate [GO:0045869]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; oncogene-induced cell senescence [GO:0090402]; positive regulation of angiogenesis [GO:0045766]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cell cycle arrest [GO:0071158]; positive regulation of cell proliferation in bone marrow [GO:0071864]; positive regulation of cellular response to X-ray [GO:2000685]; positive regulation of cellular senescence [GO:2000774]; positive regulation of gene expression [GO:0010628]; positive regulation of response to DNA damage stimulus [GO:2001022]; positive regulation of stem cell proliferation [GO:2000648]; 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]; regulation of cell cycle process [GO:0010564]; regulation of cellular response to drug [GO:2001038]; regulation of growth [GO:0040008]; regulation of stem cell population maintenance [GO:2000036]; regulation of transcription, DNA-templated [GO:0006355]; response to virus [GO:0009615]; senescence-associated heterochromatin focus assembly [GO:0035986]; stem cell differentiation [GO:0048863]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=HMGA2a; IsoId=P52926-1; Sequence=Displayed; Name=2; Synonyms=HMGA2f; IsoId=P52926-2; Sequence=VSP_042564; Name=3; Synonyms=HMGA2d'; IsoId=P52926-3; Sequence=VSP_047772; Name=4; Synonyms=HMGA2d; IsoId=P52926-4; Sequence=VSP_047773; Name=5; Synonyms=HMGA2c'; IsoId=P52926-5; Sequence=VSP_047774; Name=6; Synonyms=HMGA2c; IsoId=P52926-6; Sequence=VSP_047775; 


uniprotID: Q9HDC5
geneSymbol: JPH1
name: Junctophilin-1 (JP-1) (Junctophilin type 1)
length: 661
go: ENSG00000104369;
snps: rs16938829 rs16938828
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; junctional membrane complex [GO:0030314]; junctional sarcoplasmic reticulum membrane [GO:0014701]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; sarcoplasmic reticulum [GO:0016529]; Z disc [GO:0030018]; calcium-release channel activity [GO:0015278]; structural constituent of muscle [GO:0008307]; calcium ion transport into cytosol [GO:0060402]; muscle organ development [GO:0007517]; regulation of ryanodine-sensitive calcium-release channel activity [GO:0060314]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Endoplasmic reticulum membrane {ECO:0000250}; Single-pass type IV membrane protein {ECO:0000250}. Sarcoplasmic reticulum membrane {ECO:0000250}; Single-pass type IV membrane protein {ECO:0000250}. Note=Localized predominantly on the plasma membrane. The transmembrane domain is anchored in endoplasmic/sarcoplasmic reticulum membrane, while the N-terminal part associates with the plasma membrane. In skeletal muscle cells, it is predominantly localized at the junction of the A and I bands (By similarity). {ECO:0000250}.


uniprotID: P04196
geneSymbol: HRG
reactome: R-HSA-114608;R-HSA-75205;
name: Histidine-rich glycoprotein (Histidine-proline-rich glycoprotein) (HPRG)
length: 525
go: ENSG00000113905;
snps: rs4516605 rs121918122 rs3733008 rs10770 rs9898 rs2276804 rs2228243 rs2229331 rs1042445 rs1042464
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:21215706}.
sequence:

opentargets:
blood microparticle [GO:0072562]; cell surface [GO:0009986]; collagen-containing extracellular matrix [GO:0062023]; endolysosome [GO:0036019]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]; platelet alpha granule lumen [GO:0031093]; cysteine-type endopeptidase inhibitor activity [GO:0004869]; heme binding [GO:0020037]; heparan sulfate proteoglycan binding [GO:0043395]; heparin binding [GO:0008201]; immunoglobulin binding [GO:0019865]; metal ion binding [GO:0046872]; serine-type endopeptidase inhibitor activity [GO:0004867]; signaling receptor binding [GO:0005102]; zinc ion binding [GO:0008270]; angiogenesis [GO:0001525]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; chemotaxis [GO:0006935]; cytolysis in other organism [GO:0051715]; defense response to fungus [GO:0050832]; fibrinolysis [GO:0042730]; heme transport [GO:0015886]; negative regulation of angiogenesis [GO:0016525]; negative regulation of blood vessel endothelial cell migration [GO:0043537]; negative regulation of cell adhesion [GO:0007162]; negative regulation of cell adhesion mediated by integrin [GO:0033629]; negative regulation of cell growth [GO:0030308]; negative regulation of cell proliferation [GO:0008285]; negative regulation of endopeptidase activity [GO:0010951]; negative regulation of endothelial cell chemotaxis [GO:2001027]; negative regulation of fibrinolysis [GO:0051918]; negative regulation of lamellipodium assembly [GO:0010593]; negative regulation of vascular endothelial growth factor signaling pathway [GO:1900747]; platelet activation [GO:0030168]; platelet degranulation [GO:0002576]; positive regulation of apoptotic process [GO:0043065]; positive regulation of blood vessel remodeling [GO:2000504]; positive regulation of focal adhesion assembly [GO:0051894]; positive regulation of immune response to tumor cell [GO:0002839]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of blood coagulation [GO:0030193]; regulation of gene expression [GO:0010468]; regulation of peptidyl-tyrosine phosphorylation [GO:0050730]; regulation of platelet activation [GO:0010543]; regulation of protein complex assembly [GO:0043254]


uniprotID: Q8WXH2
geneSymbol: JPH3
name: Junctophilin-3 (JP-3) (Junctophilin type 3) (Trinucleotide repeat-containing gene 22 protein)
length: 748
go: ENSG00000154118;
snps: rs17857118 rs17853660 rs17853661
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; junctional membrane complex [GO:0030314]; junctional sarcoplasmic reticulum membrane [GO:0014701]; plasma membrane [GO:0005886]; calcium-release channel activity [GO:0015278]; calcium ion transport into cytosol [GO:0060402]; exploration behavior [GO:0035640]; learning [GO:0007612]; locomotion [GO:0040011]; memory [GO:0007613]; neuromuscular process controlling balance [GO:0050885]; regulation of neuronal synaptic plasticity [GO:0048168]; regulation of ryanodine-sensitive calcium-release channel activity [GO:0060314]; regulation of synaptic plasticity [GO:0048167]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q8WXH2-1; Sequence=Displayed; Name=2; IsoId=Q8WXH2-2; Sequence=VSP_002787, VSP_002788; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Endoplasmic reticulum membrane {ECO:0000250}; Single-pass type IV membrane protein {ECO:0000250}. Note=Localized predominantly on the plasma membrane. The transmembrane domain is anchored in endoplasmic reticulum membrane, while the N-terminal part associates with the plasma membrane (By similarity). {ECO:0000250}.


uniprotID: Q96JJ6
geneSymbol: JPH4
name: Junctophilin-4 (JP-4) (Junctophilin-like 1 protein)
length: 628
go: ENSG00000092051;
sequence:

opentargets:
dendritic shaft [GO:0043198]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; junctional membrane complex [GO:0030314]; junctional sarcoplasmic reticulum membrane [GO:0014701]; plasma membrane [GO:0005886]; smooth endoplasmic reticulum [GO:0005790]; calcium-release channel activity [GO:0015278]; calcium ion transport into cytosol [GO:0060402]; learning [GO:0007612]; neuromuscular process controlling balance [GO:0050885]; regulation of cytokine production [GO:0001817]; regulation of ryanodine-sensitive calcium-release channel activity [GO:0060314]; regulation of store-operated calcium entry [GO:2001256]; regulation of synaptic plasticity [GO:0048167]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Endoplasmic reticulum membrane {ECO:0000250}; Single-pass type IV membrane protein {ECO:0000250}. Note=Localized predominantly on the plasma membrane. The transmembrane domain is anchored in endoplasmic reticulum membrane, while the N-terminal part associates with the plasma membrane (By similarity). {ECO:0000250}.


uniprotID: A0A1B0GWH4
geneSymbol: HSFX3
name: Heat shock transcription factor, X-linked member 3
length: 333
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; cellular response to heat [GO:0034605]; positive regulation of transcription from RNA polymerase II promoter in response to heat stress [GO:0061408]


uniprotID: P83105
geneSymbol: HTRA4
name: Serine protease HTRA4 (EC 3.4.21.-) (High-temperature requirement factor A4)
length: 476
go: ENSG00000169495;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:

opentargets:
extracellular region [GO:0005576]; endopeptidase activity [GO:0004175]; insulin-like growth factor binding [GO:0005520]; serine-type endopeptidase activity [GO:0004252]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; proteolysis [GO:0006508]; regulation of cell growth [GO:0001558]


uniprotID: P0DMV8
geneSymbol: HSPA1A
reactome: R-HSA-168330;R-HSA-3371453;R-HSA-3371497;R-HSA-3371568;R-HSA-3371571;R-HSA-450408;R-HSA-6798695;
name: Heat shock 70 kDa protein 1A (Heat shock 70 kDa protein 1) (HSP70-1) (HSP70.1)
length: 641
go: ENSG00000204388;ENSG00000204389;
snps: rs562047
pdb:
1HJO;1S3X;1XQS;2E88;2E8A;2LMG;3A8Y;3ATU;3ATV;3AY9;3D2E;3D2F;3JXU;3LOF;3Q49;4IO8;4J8F;4PO2;4WV5;4WV7;5AQW;5AQX;5AQY;5AQZ;5AR0;5BN8;5BN9;5BPL;5BPM;5BPN;5GJJ;5MKR;5MKS;5XI9;5XIR;

sequence:

opentargets:
aggresome [GO:0016235]; blood microparticle [GO:0072562]; centriole [GO:0005814]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; focal adhesion [GO:0005925]; inclusion body [GO:0016234]; mitochondrion [GO:0005739]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; protein-containing complex [GO:0032991]; ribonucleoprotein complex [GO:1990904]; vesicle [GO:0031982]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; ATPase activity, coupled [GO:0042623]; C3HC4-type RING finger domain binding [GO:0055131]; cadherin binding [GO:0045296]; denatured protein binding [GO:0031249]; disordered domain specific binding [GO:0097718]; enzyme binding [GO:0019899]; G protein-coupled receptor binding [GO:0001664]; heat shock protein binding [GO:0031072]; histone deacetylase binding [GO:0042826]; misfolded protein binding [GO:0051787]; protein binding involved in protein folding [GO:0044183]; protein N-terminus binding [GO:0047485]; RNA binding [GO:0003723]; signaling receptor binding [GO:0005102]; transcription corepressor activity [GO:0003714]; ubiquitin protein ligase binding [GO:0031625]; unfolded protein binding [GO:0051082]; virus receptor activity [GO:0001618]; ATP metabolic process [GO:0046034]; cellular heat acclimation [GO:0070370]; cellular response to heat [GO:0034605]; cellular response to oxidative stress [GO:0034599]; cellular response to unfolded protein [GO:0034620]; chaperone cofactor-dependent protein refolding [GO:0051085]; chaperone-mediated protein complex assembly [GO:0051131]; mRNA catabolic process [GO:0006402]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell death [GO:0060548]; negative regulation of cell growth [GO:0030308]; negative regulation of cell proliferation [GO:0008285]; negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway [GO:1902236]; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001240]; negative regulation of inclusion body assembly [GO:0090084]; negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway [GO:1901029]; negative regulation of protein ubiquitination [GO:0031397]; negative regulation of transcription from RNA polymerase II promoter in response to stress [GO:0097201]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; neutrophil degranulation [GO:0043312]; positive regulation of endoribonuclease activity [GO:1902380]; positive regulation of erythrocyte differentiation [GO:0045648]; positive regulation of gene expression [GO:0010628]; positive regulation of interleukin-8 production [GO:0032757]; positive regulation of microtubule nucleation [GO:0090063]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway [GO:0070434]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; positive regulation of RNA splicing [GO:0033120]; positive regulation of tumor necrosis factor-mediated signaling pathway [GO:1903265]; protein refolding [GO:0042026]; protein stabilization [GO:0050821]; regulation of cellular response to heat [GO:1900034]; regulation of mitotic spindle assembly [GO:1901673]; regulation of mRNA stability [GO:0043488]; regulation of protein ubiquitination [GO:0031396]; response to unfolded protein [GO:0006986]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P0DMV8-1; Sequence=Displayed; Name=2; IsoId=P0DMV8-2; Sequence=VSP_044427; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17289661}. Nucleus {ECO:0000269|PubMed:27137183}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:27137183}. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs.


uniprotID: A0A1B0GTS1
geneSymbol: HSFX4
name: Heat shock transcription factor, X-linked member 4
length: 333
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; cellular response to heat [GO:0034605]; positive regulation of transcription from RNA polymerase II promoter in response to heat stress [GO:0061408]


uniprotID: P57058
geneSymbol: HUNK
length: 714
go: ENSG00000142149;
snps: rs35133981 rs10775648 rs56021554 rs56240027
name:
Hormonally up-regulated neu tumor-associated kinase (EC 2.7.11.1) (B19) (Serine/threonine-protein kinase MAK-V)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; ATP binding [GO:0005524]; protein serine/threonine kinase activity [GO:0004674]; intracellular signal transduction [GO:0035556]; multicellular organism development [GO:0007275]; protein phosphorylation [GO:0006468]; signal transduction [GO:0007165]


uniprotID: P42357
geneSymbol: HAL
reactome: R-HSA-70921;
name: Histidine ammonia-lyase (Histidase) (EC 4.3.1.3)
length: 657
go: ENSG00000084110;
drug: DB00117;
snps: rs121434327 rs121434328 rs121434329 rs121434330 rs7297245
sequence:

opentargets:
cytosol [GO:0005829]; histidine ammonia-lyase activity [GO:0004397]; histidine catabolic process [GO:0006548]; histidine catabolic process to glutamate and formamide [GO:0019556]; histidine catabolic process to glutamate and formate [GO:0019557]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P42357-1; Sequence=Displayed; Name=2; IsoId=P42357-2; Sequence=VSP_044704; Note=No experimental confirmation available.; Name=3; IsoId=P42357-3; Sequence=VSP_046003; Note=No experimental confirmation available.; 


uniprotID: Q2TB90
geneSymbol: HKDC1
name: Putative hexokinase HKDC1 (EC 2.7.1.1) (Hexokinase domain-containing protein 1)
length: 917
go: ENSG00000156510;
snps: rs10823320 rs874556 rs7899445 rs1111335 rs906219
sequence:

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; fructokinase activity [GO:0008865]; glucokinase activity [GO:0004340]; glucose binding [GO:0005536]; mannokinase activity [GO:0019158]; cellular glucose homeostasis [GO:0001678]; glycolytic process [GO:0006096]; hexose metabolic process [GO:0019318]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q2TB90-1; Sequence=Displayed; Name=2; IsoId=Q2TB90-2; Sequence=VSP_027535, VSP_027536; Note=No experimental confirmation available.; Name=3; IsoId=Q2TB90-3; Sequence=VSP_027533, VSP_027534; Note=No experimental confirmation available.; 


uniprotID: Q16534
geneSymbol: HLF
name: Hepatic leukemia factor
length: 295
go: ENSG00000108924;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; double-stranded DNA binding [GO:0003690]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; multicellular organism development [GO:0007275]; positive regulation of transcription by RNA polymerase II [GO:0045944]; rhythmic process [GO:0048511]; skeletal muscle cell differentiation [GO:0035914]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q16534-1; Sequence=Displayed; Name=2; IsoId=Q16534-2; Sequence=VSP_053852; Note=No experimental confirmation available.; 


uniprotID: Q6NYC1
geneSymbol: JMJD6
reactome: R-HSA-3214842;
pdb: 3K2O;3LD8;3LDB;6BNH;6FQC;
length: 403
go: ENSG00000070495;
name:
Bifunctional arginine demethylase and lysyl-hydroxylase JMJD6 (EC 1.14.11.-) (Histone arginine demethylase JMJD6) (JmjC domain-containing protein 6) (Jumonji domain-containing protein 6) (Lysyl-hydroxylase JMJD6) (Peptide-lysine 5-dioxygenase JMJD6) (Phosphatidylserine receptor) (Protein PTDSR)

sequence:

opentargets:
cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ribonucleoprotein complex [GO:1990904]; histone demethylase activity [GO:0032452]; histone demethylase activity (H3-R2 specific) [GO:0033746]; histone demethylase activity (H4-R3 specific) [GO:0033749]; identical protein binding [GO:0042802]; iron ion binding [GO:0005506]; peptidyl-lysine 5-dioxygenase activity [GO:0070815]; protein homodimerization activity [GO:0042803]; RNA binding [GO:0003723]; signaling receptor activity [GO:0038023]; single-stranded RNA binding [GO:0003727]; transcription coactivator activity [GO:0003713]; cell surface receptor signaling pathway [GO:0007166]; erythrocyte development [GO:0048821]; heart development [GO:0007507]; histone H3-R2 demethylation [GO:0070078]; histone H4-R3 demethylation [GO:0070079]; kidney development [GO:0001822]; lung development [GO:0030324]; macrophage activation [GO:0042116]; mRNA processing [GO:0006397]; peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine [GO:0018395]; positive regulation of transcription, DNA-templated [GO:0045893]; recognition of apoptotic cell [GO:0043654]; regulation of mRNA splicing, via spliceosome [GO:0048024]; retina development in camera-type eye [GO:0060041]; RNA splicing [GO:0008380]; sprouting angiogenesis [GO:0002040]; T cell differentiation in thymus [GO:0033077]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Alpha; IsoId=Q6NYC1-1; Sequence=Displayed; Name=2; Synonyms=Beta; IsoId=Q6NYC1-2; Sequence=VSP_014022, VSP_014023; Name=3; IsoId=Q6NYC1-3; Sequence=VSP_014023; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm. Nucleus, nucleolus. Note=Mainly found throughout the nucleoplasm outside of regions containing heterochromatic DNA, with some localization in nucleolus. During mitosis, excluded from the nucleus and reappears in the telophase of the cell cycle.


uniprotID: P0C7T4
geneSymbol: HMSD
sequence: MEIFIEVFSHFLLQLTELTLNMCLELPTGSLEKSLMISSQVLQIPVANSTKQR
length: 53
go: ENSG00000221887;
name:
Minor histocompatibility protein HMSD variant form (HSMD-v) [Cleaved into: Minor histocompatibility antigen ACC-6 (mHA ACC-6)]

opentargets:
activation of immune response [GO:0002253]; cytolysis [GO:0019835]; positive regulation of interferon-gamma secretion [GO:1902715]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2; Synonyms=HMSD-v; IsoId=P0C7T4-1; Sequence=Displayed; Note=This alternative splicing event arises as a consequence of an intronic polymorphism.; Name=1; Synonyms=HMSD; IsoId=A8MTL9-1; Sequence=External; 


uniprotID: Q9NSC5
geneSymbol: HOMER3
reactome: R-HSA-6794361;
pdb: 2P8V;3CVF;
name: Homer protein homolog 3 (Homer-3)
length: 361
go: ENSG00000051128;
snps: rs1059240
sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; G protein-coupled glutamate receptor binding [GO:0035256]; identical protein binding [GO:0042802]; G protein-coupled glutamate receptor signaling pathway [GO:0007216]; negative regulation of calcineurin-NFAT signaling cascade [GO:0070885]; negative regulation of interleukin-2 production [GO:0032703]; protein targeting [GO:0006605]; regulation of store-operated calcium entry [GO:2001256]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=3a; IsoId=Q9NSC5-1; Sequence=Displayed; Name=2; IsoId=Q9NSC5-2; Sequence=VSP_009077; Name=3; Synonyms=3c; IsoId=Q9NSC5-3; Sequence=VSP_009075, VSP_009076; Name=4; Synonyms=3d; IsoId=Q9NSC5-4; Sequence=VSP_009073, VSP_009074; Name=5; IsoId=Q9NSC5-5; Sequence=VSP_045715; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Note=Postsynaptic density of neuronal cells. {ECO:0000250}.


uniprotID: Q8TB92
geneSymbol: HMGCLL1
reactome: R-HSA-77111;
length: 370
go: ENSG00000146151;
name:
3-hydroxymethyl-3-methylglutaryl-CoA lyase, cytoplasmic (EC 4.1.3.4) (3-hydroxymethyl-3-methylglutaryl-CoA lyase-like protein 1) (Endoplasmic reticulum 3-hydroxymethyl-3-methylglutaryl-CoA lyase) (er-cHL)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; membrane [GO:0016020]; perinuclear region of cytoplasm [GO:0048471]; hydroxymethylglutaryl-CoA lyase activity [GO:0004419]; metal ion binding [GO:0046872]; ketone body biosynthetic process [GO:0046951]; leucine catabolic process [GO:0006552]; lipid metabolic process [GO:0006629]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8TB92-1; Sequence=Displayed; Name=2; IsoId=Q8TB92-2; Sequence=VSP_033752; Name=3; IsoId=Q8TB92-4; Sequence=VSP_038021, VSP_038022; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; Name=4; IsoId=Q8TB92-5; Sequence=VSP_033752, VSP_044324; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Endoplasmic reticulum membrane; Peripheral membrane protein.


uniprotID: Q6MZM0
geneSymbol: HEPHL1
name: Hephaestin-like protein 1 (EC 1.-.-.-)
length: 1159
go: ENSG00000181333;
snps: rs1945783 rs12291622
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; copper ion binding [GO:0005507]; ferroxidase activity [GO:0004322]; oxidoreductase activity, oxidizing metal ions [GO:0016722]; copper ion transport [GO:0006825]; oxidation-reduction process [GO:0055114]


uniprotID: O60674
geneSymbol: JAK2
name: Tyrosine-protein kinase JAK2 (EC 2.7.10.2) (Janus kinase 2) (JAK-2)
length: 1132
go: ENSG00000096968;
drug: DB07162;DB08067;DB07161;DB08877;DB08895;DB05243;
reactome:
R-HSA-1059683;R-HSA-110056;R-HSA-112411;R-HSA-1170546;R-HSA-1433557;R-HSA-2586552;R-HSA-3214858;R-HSA-512988;R-HSA-5673000;R-HSA-5673001;R-HSA-6785807;R-HSA-6788467;R-HSA-6802946;R-HSA-6802949;R-HSA-6802952;R-HSA-6802955;R-HSA-69231;R-HSA-877300;R-HSA-877312;R-HSA-8854691;R-HSA-8984722;R-HSA-9020591;R-HSA-9020933;R-HSA-9020956;R-HSA-912526;R-HSA-982772;R-HSA-983231;

pdb:
2B7A;2W1I;2XA4;3E62;3E63;3E64;3FUP;3IO7;3IOK;3JY9;3KCK;3KRR;3LPB;3Q32;3RVG;3TJC;3TJD;3UGC;3ZMM;4AQC;4BBE;4BBF;4C61;4C62;4D0W;4D0X;4D1S;4E4M;4E6D;4E6Q;4F08;4F09;4FVP;4FVQ;4FVR;4GFM;4GMY;4HGE;4IVA;4JI9;4JIA;4P7E;4YTC;4YTF;4YTH;4YTI;4Z32;4ZIM;5AEP;5CF4;5CF5;5CF6;5CF8;5HEZ;5I4N;5L3A;5TQ3;5TQ4;5TQ5;5TQ6;5TQ7;5TQ8;5USY;5USZ;5UT0;5UT1;5UT2;5UT3;5UT4;5UT5;5UT6;5WEV;5WIJ;5WIK;5WIL;5WIM;5WIN;6AAJ;6BBV;6BRW;6BS0;6BSS;6DRW;6E2P;6E2Q;6M9H;

sequence:

opentargets:
caveola [GO:0005901]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; endosome lumen [GO:0031904]; focal adhesion [GO:0005925]; glutamatergic synapse [GO:0098978]; membrane raft [GO:0045121]; nuclear matrix [GO:0016363]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; postsynapse [GO:0098794]; acetylcholine receptor binding [GO:0033130]; ATP binding [GO:0005524]; growth hormone receptor binding [GO:0005131]; heme binding [GO:0020037]; histone binding [GO:0042393]; histone kinase activity (H3-Y41 specific) [GO:0035401]; identical protein binding [GO:0042802]; insulin receptor substrate binding [GO:0043560]; interleukin-12 receptor binding [GO:0005143]; metal ion binding [GO:0046872]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; peptide hormone receptor binding [GO:0051428]; phosphatidylinositol 3-kinase binding [GO:0043548]; protein C-terminus binding [GO:0008022]; protein kinase activity [GO:0004672]; protein kinase binding [GO:0019901]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; SH2 domain binding [GO:0042169]; signaling receptor binding [GO:0005102]; type 1 angiotensin receptor binding [GO:0031702]; actin filament polymerization [GO:0030041]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway [GO:0097296]; activation of Janus kinase activity [GO:0042976]; activation of MAPKK activity [GO:0000186]; adaptive immune response [GO:0002250]; apoptotic process [GO:0006915]; axon regeneration [GO:0031103]; blood coagulation [GO:0007596]; cell differentiation [GO:0030154]; cytokine-mediated signaling pathway [GO:0019221]; enzyme linked receptor protein signaling pathway [GO:0007167]; erythrocyte differentiation [GO:0030218]; extrinsic apoptotic signaling pathway [GO:0097191]; G protein-coupled receptor signaling pathway [GO:0007186]; growth hormone receptor signaling pathway [GO:0060396]; histone H3-Y41 phosphorylation [GO:0035409]; interferon-gamma-mediated signaling pathway [GO:0060333]; interleukin-12-mediated signaling pathway [GO:0035722]; interleukin-23-mediated signaling pathway [GO:0038155]; interleukin-27-mediated signaling pathway [GO:0070106]; interleukin-35-mediated signaling pathway [GO:0070757]; interleukin-6-mediated signaling pathway [GO:0070102]; intracellular signal transduction [GO:0035556]; intrinsic apoptotic signaling pathway in response to oxidative stress [GO:0008631]; JAK-STAT cascade [GO:0007259]; JAK-STAT cascade involved in growth hormone signaling pathway [GO:0060397]; mammary gland epithelium development [GO:0061180]; MAPK cascade [GO:0000165]; mesoderm development [GO:0007498]; mineralocorticoid receptor signaling pathway [GO:0031959]; modulation of chemical synaptic transmission [GO:0050804]; negative regulation of cardiac muscle cell apoptotic process [GO:0010667]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cell-cell adhesion [GO:0022408]; negative regulation of DNA binding [GO:0043392]; negative regulation of heart contraction [GO:0045822]; negative regulation of neuron apoptotic process [GO:0043524]; peptidyl-tyrosine phosphorylation [GO:0018108]; platelet-derived growth factor receptor signaling pathway [GO:0048008]; positive regulation of cell activation [GO:0050867]; positive regulation of cell differentiation [GO:0045597]; positive regulation of cell migration [GO:0030335]; positive regulation of cell-substrate adhesion [GO:0010811]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of DNA binding [GO:0043388]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of epithelial cell apoptotic process [GO:1904037]; positive regulation of growth factor dependent skeletal muscle satellite cell proliferation [GO:1902728]; positive regulation of growth hormone receptor signaling pathway [GO:0060399]; positive regulation of inflammatory response [GO:0050729]; positive regulation of insulin secretion [GO:0032024]; positive regulation of interleukin-1 beta production [GO:0032731]; positive regulation of nitric oxide biosynthetic process [GO:0045429]; positive regulation of nitric-oxide synthase biosynthetic process [GO:0051770]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of phosphoprotein phosphatase activity [GO:0032516]; positive regulation of protein import into nucleus, translocation [GO:0033160]; positive regulation of tumor necrosis factor production [GO:0032760]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; positive regulation of vascular smooth muscle cell proliferation [GO:1904707]; postsynapse to nucleus signaling pathway [GO:0099527]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of inflammatory response [GO:0050727]; regulation of interferon-gamma-mediated signaling pathway [GO:0060334]; regulation of JAK-STAT cascade [GO:0046425]; regulation of nitric oxide biosynthetic process [GO:0045428]; response to antibiotic [GO:0046677]; response to hydroperoxide [GO:0033194]; response to interleukin-12 [GO:0070671]; response to lipopolysaccharide [GO:0032496]; response to tumor necrosis factor [GO:0034612]; signal transduction [GO:0007165]; tumor necrosis factor-mediated signaling pathway [GO:0033209]; tyrosine phosphorylation of STAT protein [GO:0007260]

snps:
rs56118985 rs55667734 rs55953208 rs2230723 rs121912473 rs17490221 rs121912472 rs77375493 rs77375493 rs41316003 

location:
SUBCELLULAR LOCATION: Endomembrane system {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cytoplasm {ECO:0000269|PubMed:19783980}. Nucleus {ECO:0000269|PubMed:19783980}.


uniprotID: P0CJ72
geneSymbol: MTRNR2L5
name: Humanin-like 5 (HN5) (MT-RNR2-like protein 5)
sequence: MATPGFSCLLLSTSEIDLPMKRRV
length: 24
go: ENSG00000249860;
snps: rs11004928
opentargets:
extracellular region [GO:0005576]; mitochondrion [GO:0005739]; receptor antagonist activity [GO:0048019]; cellular response to staurosporine [GO:0072734]; negative regulation of execution phase of apoptosis [GO:1900118]; negative regulation of mitochondrial membrane permeability involved in apoptotic process [GO:1902109]


uniprotID: P19622
geneSymbol: EN2
name: Homeobox protein engrailed-2 (Homeobox protein en-2) (Hu-En-2)
length: 333
go: ENSG00000164778;
drug: DB03309;
snps: rs3735653
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
fibrillar center [GO:0001650]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; embryonic brain development [GO:1990403]; hindbrain development [GO:0030902]; midbrain development [GO:0030901]; multicellular organism development [GO:0007275]; negative regulation of neuron apoptotic process [GO:0043524]; neuron development [GO:0048666]; positive regulation of transcription by RNA polymerase II [GO:0045944]


uniprotID: Q9Y5L2
geneSymbol: HILPDA
reactome: R-HSA-8964572;
name: Hypoxia-inducible lipid droplet-associated protein (Hypoxia-inducible gene 2 protein)
sequence: MKHVLNLYLLGVVLTLLSIFVRVMESLEGLLESPSPGTSWTTRSQLANTEPTKGLPDHPSRSM
length: 63
go: ENSG00000135245;
opentargets:
cell surface [GO:0009986]; cytosol [GO:0005829]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; lipid droplet [GO:0005811]; nucleoplasm [GO:0005654]; secretory granule [GO:0030141]; signaling receptor binding [GO:0005102]; autocrine signaling [GO:0035425]; cellular response to hypoxia [GO:0071456]; lipid droplet organization [GO:0034389]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cytokine production [GO:0001819]; positive regulation of lipid storage [GO:0010884]

location:
SUBCELLULAR LOCATION: Lipid droplet. Secreted. Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.


uniprotID: B2RXH8
geneSymbol: HNRNPCL2
name: Heterogeneous nuclear ribonucleoprotein C-like 2 (hnRNP C-like-2)
length: 293
go: ENSG00000275774;
opentargets: nucleus [GO:0005634]; RNA binding [GO:0003723]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Note=Component of ribonucleosomes. {ECO:0000250}.
sequence:


uniprotID: P37235
geneSymbol: HPCAL1
pdb: 5T7C;
length: 193
go: ENSG00000115756;
opentargets: membrane [GO:0016020]; calcium ion binding [GO:0005509]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}.
name:
Hippocalcin-like protein 1 (Calcium-binding protein BDR-1) (HLP2) (Visinin-like protein 3) (VILIP-3)

sequence:
MGKQNSKLRPEVLQDLRENTEFTDHELQEWYKGFLKDCPTGHLTVDEFKKIYANFFPYGDASKFAEHVFRTFDTNGDGTIDFREFIIALSVTSRGKLEQKLKWAFSMYDLDGNGYISRSEMLEIVQAIYKMVSSVMKMPEDESTPEKRTDKIFRQMDTNNDGKLSLEEFIRGAKSDPSIVRLLQCDPSSASQF


uniprotID: Q8WWQ2
geneSymbol: HPSE2
reactome: R-HSA-2024096;
name: Inactive heparanase-2 (Hpa2)
length: 592
go: ENSG00000172987;
snps: rs17110744 rs10883100
sequence:

opentargets:
extracellular matrix [GO:0031012]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; heparan sulfate proteoglycan binding [GO:0043395]; heparanase activity [GO:0030305]; extracellular matrix organization [GO:0030198]; glycosaminoglycan catabolic process [GO:0006027]; positive regulation of cell proliferation [GO:0008284]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=HPA2c; IsoId=Q8WWQ2-1; Sequence=Displayed; Name=2; IsoId=Q8WWQ2-2; Sequence=VSP_015852, VSP_015853; Name=3; Synonyms=HPA2b; IsoId=Q8WWQ2-3; Sequence=VSP_015851; Name=4; Synonyms=HPA2a; IsoId=Q8WWQ2-4; Sequence=VSP_015850; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:20576607}.


uniprotID: Q96IR7
geneSymbol: HPDL
length: 371
go: ENSG00000186603;
name:
4-hydroxyphenylpyruvate dioxygenase-like protein (EC 1.13.-.-) (Glyoxalase domain-containing protein 1)

sequence:

opentargets:
4-hydroxyphenylpyruvate dioxygenase activity [GO:0003868]; metal ion binding [GO:0046872]; aromatic amino acid family metabolic process [GO:0009072]


uniprotID: P07910
geneSymbol: HNRNPC
reactome: R-HSA-4570464;R-HSA-72163;R-HSA-72203;
pdb: 1TXP;1WF2;2MXY;2MZ1;3LN4;
name: Heterogeneous nuclear ribonucleoproteins C1/C2 (hnRNP C1/C2)
length: 306
go: ENSG00000092199;
location: SUBCELLULAR LOCATION: Nucleus. Note=Component of ribonucleosomes.
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; catalytic step 2 spliceosome [GO:0071013]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; membrane [GO:0016020]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; spliceosomal complex [GO:0005681]; telomerase holoenzyme complex [GO:0005697]; identical protein binding [GO:0042802]; mRNA 3'-UTR binding [GO:0003730]; N6-methyladenosine-containing RNA binding [GO:1990247]; nucleosomal DNA binding [GO:0031492]; poly(U) RNA binding [GO:0008266]; RNA binding [GO:0003723]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; telomerase RNA binding [GO:0070034]; 3'-UTR-mediated mRNA stabilization [GO:0070935]; ATP-dependent chromatin remodeling [GO:0043044]; mRNA splicing, via spliceosome [GO:0000398]; negative regulation of telomere maintenance via telomerase [GO:0032211]; osteoblast differentiation [GO:0001649]; RNA metabolic process [GO:0016070]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=C2; IsoId=P07910-1; Sequence=Displayed; Name=C1; IsoId=P07910-2; Sequence=VSP_005831; Name=3; IsoId=P07910-3; Sequence=VSP_019225; Name=4; IsoId=P07910-4; Sequence=VSP_005831, VSP_019226; 


uniprotID: Q96MM6
geneSymbol: HSPA12B
reactome: R-HSA-3371453;
name: Heat shock 70 kDa protein 12B
length: 686
go: ENSG00000132622;
opentargets: ATP binding [GO:0005524]
snps: rs34414870 rs6139194
sequence:


uniprotID: Q9ULV5
geneSymbol: HSF4
name: Heat shock factor protein 4 (HSF 4) (hHSF4) (Heat shock transcription factor 4) (HSTF 4)
length: 492
go: ENSG00000102878;
snps: rs121909049 rs121909050 rs121909048 rs28937573
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nuclear speck [GO:0016607]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein phosphatase binding [GO:0019903]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; transcription corepressor activity [GO:0003714]; camera-type eye development [GO:0043010]; cell development [GO:0048468]; cellular response to heat [GO:0034605]; histone H3-K9 demethylation [GO:0033169]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of cell differentiation [GO:0045597]; positive regulation of cell proliferation [GO:0008284]; positive regulation of transcription from RNA polymerase II promoter in response to heat stress [GO:0061408]; protein homotrimerization [GO:0070207]; regulation of transcription, DNA-templated [GO:0006355]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=HSF4B; IsoId=Q9ULV5-1; Sequence=Displayed; Name=HSF4A; IsoId=Q9ULV5-2; Sequence=VSP_002418; 


uniprotID: Q9GZV7
geneSymbol: HAPLN2
name: Hyaluronan and proteoglycan link protein 2 (Brain link protein 1)
length: 340
go: ENSG00000132702;
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
sequence:

opentargets:
extracellular matrix [GO:0031012]; hyaluronic acid binding [GO:0005540]; cell adhesion [GO:0007155]; central nervous system development [GO:0007417]; establishment of blood-nerve barrier [GO:0008065]; extracellular matrix assembly [GO:0085029]


uniprotID: O00198
geneSymbol: HRK
pdb: 2L58;2L5B;
sequence: MCPCPLHRGRGPPAVCACSAGRLGLRSSAAQLTAARLKALGDELHQRTMWRRRARSRRAPAPGALPTYWPWLCAAAQVAALAAWLLGRRNL
length: 91
go: ENSG00000135116;
location: SUBCELLULAR LOCATION: Membrane; Single-pass membrane protein. Mitochondrion.
name:
Activator of apoptosis harakiri (BH3-interacting domain-containing protein 3) (Neuronal death protein DP5)

opentargets:
integral component of membrane [GO:0016021]; mitochondrion [GO:0005739]; apoptotic process [GO:0006915]; positive regulation of apoptotic process [GO:0043065]; positive regulation of protein homooligomerization [GO:0032464]; positive regulation of release of cytochrome c from mitochondria [GO:0090200]


uniprotID: Q4G112
geneSymbol: HSF5
name: Heat shock factor protein 5 (HSF 5) (Heat shock transcription factor 5) (HSTF 5)
length: 596
snps: rs1017089 rs3803752
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; cellular response to heat [GO:0034605]; positive regulation of transcription from RNA polymerase II promoter in response to heat stress [GO:0061408]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q4G112-1; Sequence=Displayed; Name=2; IsoId=Q4G112-2; Sequence=VSP_033454; 


uniprotID: Q6UXD1
geneSymbol: HRCT1
name: Histidine-rich carboxyl terminus protein 1
length: 115
go: ENSG00000196196;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MLGLLGSTALVGWITGAAVAVLLLLLLLATCLFHGRQDCDVERNRTAAGGNRVRRAQPWPFRRRGHLGIFHHHRHPGHVSHVPNVGLHHHHHPRHTPHHLHHHHHPHRHHPRHAR


uniprotID: O14979
geneSymbol: HNRNPDL
reactome: R-HSA-8950505;
length: 420
go: ENSG00000152795;
snps: rs587777669 rs587777669
name:
Heterogeneous nuclear ribonucleoprotein D-like (hnRNP D-like) (hnRNP DL) (AU-rich element RNA-binding factor) (JKT41-binding protein) (Protein laAUF1)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; spliceosomal complex [GO:0005681]; double-stranded DNA binding [GO:0003690]; poly(A) binding [GO:0008143]; poly(G) binding [GO:0034046]; RNA binding [GO:0003723]; sequence-specific DNA binding [GO:0043565]; sequence-specific double-stranded DNA binding [GO:1990837]; single-stranded DNA binding [GO:0003697]; interleukin-12-mediated signaling pathway [GO:0035722]; regulation of gene expression [GO:0010468]; RNA processing [GO:0006396]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=JKTBP1; IsoId=O14979-1; Sequence=Displayed; Name=2; Synonyms=JKTBP2; IsoId=O14979-2; Sequence=VSP_025410; Name=3; IsoId=O14979-3; Sequence=VSP_025410, VSP_025411; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11705999, ECO:0000269|PubMed:12406575}. Cytoplasm {ECO:0000269|PubMed:11705999, ECO:0000269|PubMed:12406575}. Note=Shuttles between the nucleus and the cytoplasm in a TNPO1-dependent manner. {ECO:0000269|PubMed:11705999, ECO:0000269|PubMed:12406575}.


uniprotID: P55795
geneSymbol: HNRNPH2
reactome: R-HSA-72163;R-HSA-72203;
pdb: 1WEZ;1WG5;6DG1;
length: 449
go: ENSG00000126945;
snps: rs886039764 rs886039763
location: SUBCELLULAR LOCATION: Nucleus, nucleoplasm.
name:
Heterogeneous nuclear ribonucleoprotein H2 (hnRNP H2) (FTP-3) (Heterogeneous nuclear ribonucleoprotein H') (hnRNP H') [Cleaved into: Heterogeneous nuclear ribonucleoprotein H2, N-terminally processed]

sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; postsynaptic density [GO:0014069]; ribonucleoprotein complex [GO:1990904]; RNA binding [GO:0003723]; mRNA splicing, via spliceosome [GO:0000398]; RNA metabolic process [GO:0016070]


uniprotID: Q8IX15
geneSymbol: HOMEZ
pdb: 2ECC;2YS9;
name: Homeobox and leucine zipper protein Homez (Homeodomain leucine zipper-containing factor)
length: 550
go: ENSG00000215271;
snps: rs10131813
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000269|PubMed:12925734}.
sequence:

opentargets:
cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; transcription corepressor activity [GO:0003714]; negative regulation of transcription by RNA polymerase II [GO:0000122]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IX15-1; Sequence=Displayed; Name=2; IsoId=Q8IX15-3; Sequence=VSP_054303; Note=No experimental confirmation available.; 


uniprotID: P14866
geneSymbol: HNRNPL
reactome: R-HSA-72163;R-HSA-72203;
pdb: 3R27;3TO8;
name: Heterogeneous nuclear ribonucleoprotein L (hnRNP L)
length: 589
go: ENSG00000104824;
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; pronucleus [GO:0045120]; ribonucleoprotein complex [GO:1990904]; ribonucleoprotein granule [GO:0035770]; mRNA 3'-UTR binding [GO:0003730]; mRNA CDS binding [GO:1990715]; pre-mRNA intronic binding [GO:0097157]; RNA binding [GO:0003723]; transcription regulatory region DNA binding [GO:0044212]; cellular response to amino acid starvation [GO:0034198]; circadian rhythm [GO:0007623]; mRNA splicing, via spliceosome [GO:0000398]; negative regulation of mRNA splicing, via spliceosome [GO:0048025]; positive regulation of mRNA binding [GO:1902416]; positive regulation of translation [GO:0045727]; regulation of alternative mRNA splicing, via spliceosome [GO:0000381]; response to peptide [GO:1901652]; RNA metabolic process [GO:0016070]; RNA processing [GO:0006396]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P14866-1; Sequence=Displayed; Name=2; IsoId=P14866-2; Sequence=VSP_044301; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:17289661, ECO:0000269|PubMed:2687284, ECO:0000305|PubMed:26051023}. Cytoplasm {ECO:0000269|PubMed:17289661}. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. These granules are not identical with P bodies or stress granules. {ECO:0000269|PubMed:17289661}.


uniprotID: Q8IWW8
geneSymbol: ADHFE1
reactome: R-HSA-880009;
length: 467
go: ENSG00000147576;
snps: rs1060242
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250}.
name:
Hydroxyacid-oxoacid transhydrogenase, mitochondrial (HOT) (EC 1.1.99.24) (Alcohol dehydrogenase iron-containing protein 1) (ADHFe1) (Fe-containing alcohol dehydrogenase)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; hydroxyacid-oxoacid transhydrogenase activity [GO:0047988]; metal ion binding [GO:0046872]; 2-oxoglutarate metabolic process [GO:0006103]; glutamate catabolic process via 2-oxoglutarate [GO:0006539]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8IWW8-1; Sequence=Displayed; Name=2; IsoId=Q8IWW8-2; Sequence=VSP_031984; Name=3; IsoId=Q8IWW8-3; Sequence=VSP_031985, VSP_031986; Note=No experimental confirmation available.; Name=4; IsoId=Q8IWW8-4; Sequence=VSP_031984, VSP_031985, VSP_031986; Note=No experimental confirmation available.; 


uniprotID: Q92598
geneSymbol: HSPH1
reactome: R-HSA-3000484;R-HSA-3371453;
name: Heat shock protein 105 kDa (Antigen NY-CO-25) (Heat shock 110 kDa protein)
length: 858
go: ENSG00000120694;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9931472}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endocytic vesicle lumen [GO:0071682]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; microtubule [GO:0005874]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; adenyl-nucleotide exchange factor activity [GO:0000774]; alpha-tubulin binding [GO:0043014]; ATP binding [GO:0005524]; chaperone cofactor-dependent protein refolding [GO:0051085]; positive regulation of MHC class I biosynthetic process [GO:0045345]; positive regulation of NK T cell activation [GO:0051135]; receptor-mediated endocytosis [GO:0006898]; regulation of cellular response to heat [GO:1900034]; response to unfolded protein [GO:0006986]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=Alpha; IsoId=Q92598-1; Sequence=Displayed; Name=Beta; IsoId=Q92598-2; Sequence=VSP_002428; Name=3; IsoId=Q92598-3; Sequence=VSP_035428; Note=No experimental confirmation available.; Name=4; IsoId=Q92598-4; Sequence=VSP_054883; Note=No experimental confirmation available.; 


uniprotID: Q03933
geneSymbol: HSF2
pdb: 5D8K;5D8L;5HDK;
name: Heat shock factor protein 2 (HSF 2) (Heat shock transcription factor 2) (HSTF 2)
length: 536
go: ENSG00000025156;
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein homodimerization activity [GO:0042803]; RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding [GO:0001162]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; transcription coactivator activity [GO:0003713]; cellular response to heat [GO:0034605]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription from RNA polymerase II promoter in response to heat stress [GO:0061408]; spermatogenesis [GO:0007283]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q03933-1; Sequence=Displayed; Name=2; IsoId=Q03933-2; Sequence=VSP_041128; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:8339932}. Nucleus {ECO:0000269|PubMed:8339932}. Note=Cytoplasmic during normal growth and moves to the nucleus upon activation.


uniprotID: P04792
geneSymbol: HSPB1
reactome: R-HSA-4420097;R-HSA-450408;R-HSA-5687128;
pdb: 2N3J;3Q9P;3Q9Q;4MJH;
length: 205
go: ENSG00000106211;
drug: DB06094;
name:
Heat shock protein beta-1 (HspB1) (28 kDa heat shock protein) (Estrogen-regulated 24 kDa protein) (Heat shock 27 kDa protein) (HSP 27) (Stress-responsive protein 27) (SRP27)

sequence:

opentargets:
axon cytoplasm [GO:1904115]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; focal adhesion [GO:0005925]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; proteasome complex [GO:0000502]; spindle [GO:0005819]; Z disc [GO:0030018]; identical protein binding [GO:0042802]; protein binding involved in protein folding [GO:0044183]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; protein kinase C binding [GO:0005080]; protein kinase C inhibitor activity [GO:0008426]; RNA binding [GO:0003723]; ubiquitin binding [GO:0043130]; anterograde axonal protein transport [GO:0099641]; cellular response to vascular endothelial growth factor stimulus [GO:0035924]; chaperone-mediated protein folding [GO:0061077]; intracellular signal transduction [GO:0035556]; negative regulation of apoptotic process [GO:0043066]; negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway [GO:1902176]; negative regulation of protein kinase activity [GO:0006469]; platelet aggregation [GO:0070527]; positive regulation of angiogenesis [GO:0045766]; positive regulation of blood vessel endothelial cell migration [GO:0043536]; positive regulation of endothelial cell chemotaxis [GO:2001028]; positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway [GO:0038033]; positive regulation of interleukin-1 beta production [GO:0032731]; positive regulation of tumor necrosis factor biosynthetic process [GO:0042535]; regulation of autophagy [GO:0010506]; regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043122]; regulation of mRNA stability [GO:0043488]; regulation of protein phosphorylation [GO:0001932]; regulation of translational initiation [GO:0006446]; response to unfolded protein [GO:0006986]; response to virus [GO:0009615]; retina homeostasis [GO:0001895]

snps:
rs557327165 rs1393404971 rs375244209 rs770272088 rs121909113 rs29001571 rs558882005 rs28939680 rs863225022 rs28939681 rs121909112 rs28937568 rs28937569 rs772767500 rs764297134 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10777697, ECO:0000269|PubMed:28144995}. Nucleus {ECO:0000269|PubMed:19464326}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:10777697}. Note=Cytoplasmic in interphase cells. Colocalizes with mitotic spindles in mitotic cells. Translocates to the nucleus during heat shock and resides in sub-nuclear structures known as SC35 speckles or nuclear splicing speckles. {ECO:0000269|PubMed:19464326}.


uniprotID: Q9UBY9
geneSymbol: HSPB7
name: Heat shock protein beta-7 (HspB7) (Cardiovascular heat shock protein) (cvHsp)
length: 170
go: ENSG00000173641;
sequence:
MSHRTSSTFRAERSFHSSSSSSSSSTSSSASRALPAQDPPMEKALSMFSDDFGSFMRPHSEPLAFPARPGGAGNIKTLGDAYEFAVDVRDFSPEDIIVTTSNNHIEVRAEKLAADGTVMNTFAHKCQLPEDVDPTSVTSALREDGSLTIRARRHPHTEHVQQTFRTEIKI

opentargets:
actin cytoskeleton [GO:0015629]; aggresome [GO:0016235]; Cajal body [GO:0015030]; cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; filamin binding [GO:0031005]; protein C-terminus binding [GO:0008022]; heart development [GO:0007507]; regulation of heart contraction [GO:0008016]; response to unfolded protein [GO:0006986]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UBY9-1; Sequence=Displayed; Name=2; IsoId=Q9UBY9-2; Sequence=VSP_002424; Name=3; IsoId=Q9UBY9-3; Sequence=VSP_002425, VSP_002426; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19464326}. Nucleus {ECO:0000269|PubMed:19464326}. Nucleus, Cajal body {ECO:0000269|PubMed:19464326}. Note=Resides in sub-nuclear structures known as SC35 speckles or nuclear splicing speckles.


uniprotID: Q0VDF9
geneSymbol: HSPA14
reactome: R-HSA-3371453;
name: Heat shock 70 kDa protein 14 (HSP70-like protein 1) (Heat shock protein HSP60)
length: 509
go: ENSG00000187522;
snps: rs374837716
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:16002468}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; polysome [GO:0005844]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; ATPase activity, coupled [GO:0042623]; heat shock protein binding [GO:0031072]; misfolded protein binding [GO:0051787]; protein binding involved in protein folding [GO:0044183]; unfolded protein binding [GO:0051082]; 'de novo' cotranslational protein folding [GO:0051083]; cellular response to heat [GO:0034605]; cellular response to unfolded protein [GO:0034620]; chaperone cofactor-dependent protein refolding [GO:0051085]; cytoplasmic translation [GO:0002181]; protein refolding [GO:0042026]; regulation of translational fidelity [GO:0006450]; response to unfolded protein [GO:0006986]


uniprotID: O94953
geneSymbol: KDM4B
reactome: R-HSA-3214842;R-HSA-5693565;R-HSA-9018519;
pdb: 4LXL;4UC4;
length: 1096
go: ENSG00000127663;
snps: rs11667206 rs2620836
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00537, ECO:0000269|PubMed:15927959}.
name:
Lysine-specific demethylase 4B (EC 1.14.11.-) (JmjC domain-containing histone demethylation protein 3B) (Jumonji domain-containing protein 2B)

sequence:

opentargets:
histone methyltransferase complex [GO:0035097]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; histone demethylase activity [GO:0032452]; histone demethylase activity (H3-K36 specific) [GO:0051864]; histone demethylase activity (H3-K9 specific) [GO:0032454]; metal ion binding [GO:0046872]; methylated histone binding [GO:0035064]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; histone H3-K36 demethylation [GO:0070544]; histone H3-K9 demethylation [GO:0033169]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O94953-1; Sequence=Displayed; Name=2; IsoId=O94953-2; Sequence=VSP_018307, VSP_018308; Note=No experimental confirmation available.; 


uniprotID: Q6B0I6
geneSymbol: KDM4D
reactome: R-HSA-3214842;
length: 523
go: ENSG00000186280;
snps: rs35631512 rs3740853 rs34366036
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00537}.
pdb:
3DXT;3DXU;4D6Q;4D6R;4D6S;4HON;4HOO;5F5A;5F5C;5FP4;5FP7;5FP8;5FP9;5FPA;5FPB;5PH0;5PH1;5PH2;5PH3;5PH4;5PH5;5PH6;5PH7;5PH8;5PH9;5PHA;5PHB;5PHC;5PHD;5PHE;5PHF;5PHG;5PHH;5PHI;5PHJ;5PHK;5PHL;5PHM;5PHN;5PHO;5PHP;5PHQ;5PHR;5PHS;5PHT;5PHU;5PHV;5PHW;5PHX;5PHY;5PHZ;5PI0;5PI1;5PI2;5PI3;5PI4;5PI5;5PI6;5PI7;5PI8;5PI9;5PIA;5PIB;5PIC;5PID;5PIE;5PIF;5PIG;5PIH;5PII;5PIJ;5PIK;5PIL;5PIM;5PIN;5PIO;5PIP;5PIQ;5PIR;5PIS;5PIT;5PIU;5PIV;5PIW;5PIX;5PIY;5PIZ;5PJ0;5PJ1;5PJ2;5PJ3;5PJ4;5PJ5;5PJ6;5PJ7;5PJ8;5PJ9;5PJA;5PJB;5PJC;5PJD;5PJE;5PJF;5PJG;5PJH;5PJI;5PJJ;5PJK;5PJL;5PJM;5PJN;5PJO;5PJP;5PJQ;5PJR;5PJS;5PJT;5PJU;5PJV;5PJW;5PJX;5PJY;5PJZ;5PK0;5PK1;5PK2;5PK3;5PK4;5PK5;5PK6;5PK7;5PK8;5PK9;5PKA;5PKB;5PKC;5PKD;5PKE;5PKF;5PKG;5PKH;5PKI;5PKJ;5PKK;5PKL;5PKM;5PKN;5PKO;5PKP;5PKQ;5PKR;5PKS;5PKT;5PKU;5PKV;5PKW;5PKX;5PKY;5PKZ;5PL0;5PL1;5PL2;5PL3;5PL4;5PL5;5PL6;5PL7;5PL8;5PL9;5PLA;5PLB;5PLC;5PLD;5PLE;5PLF;5PLG;5PLH;5PLI;5PLJ;5PLK;5PLL;5PLM;5PLN;5PLO;5PLP;5PLQ;5PLR;5PLS;5PLT;5PLU;5PLV;5PLW;5PLX;5PLY;5PLZ;5PM0;5PM1;5PM2;5PM3;5PM4;5PM5;5PM6;5PM7;5PM8;5PM9;5PMA;5PMB;5PMC;5PMD;5PME;5PMF;5PMG;5PMH;5PMI;5PMJ;5PMK;5PML;5PMM;5PMN;5PMO;5PMP;5PMQ;5PMR;5PMS;5PMT;5PMU;5PMV;5PMW;5PMX;5PMY;5PMZ;5PN0;5PN1;5PN2;5PN3;5PN4;5PN5;5PN6;5PN7;5PN8;5PN9;5PNA;5PNB;5PNC;5PND;5PNE;5PNF;5PNG;5PNH;5PNI;5PNJ;5PNK;5PNL;5PNM;5PNN;5PNO;5PNP;5PNQ;5PNR;5PNS;5PNU;5PNV;5PNW;

name:
Lysine-specific demethylase 4D (EC 1.14.11.-) (JmjC domain-containing histone demethylation protein 3D) (Jumonji domain-containing protein 2D)

sequence:

opentargets:
blood microparticle [GO:0072562]; histone methyltransferase complex [GO:0035097]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; pericentric heterochromatin [GO:0005721]; site of double-strand break [GO:0035861]; chromatin binding [GO:0003682]; chromatin DNA binding [GO:0031490]; damaged DNA binding [GO:0003684]; dioxygenase activity [GO:0051213]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; histone demethylase activity [GO:0032452]; histone demethylase activity (H3-K9 specific) [GO:0032454]; metal ion binding [GO:0046872]; methylated histone binding [GO:0035064]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; cellular response to ionizing radiation [GO:0071479]; double-strand break repair via homologous recombination [GO:0000724]; histone H3-K9 demethylation [GO:0033169]; negative regulation of histone H3-K9 trimethylation [GO:1900113]; positive regulation of chromatin binding [GO:0035563]; positive regulation of double-strand break repair via nonhomologous end joining [GO:2001034]; regulation of protein phosphorylation [GO:0001932]


uniprotID: Q5VWX1
geneSymbol: KHDRBS2
reactome: R-HSA-8849468;
length: 349
go: ENSG00000112232;
snps: rs7449840
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q9WU01}.
name:
KH domain-containing, RNA-binding, signal transduction-associated protein 2 (Sam68-like mammalian protein 1) (SLM-1) (hSLM-1)

sequence:

opentargets:
nucleoplasm [GO:0005654]; identical protein binding [GO:0042802]; poly(A) binding [GO:0008143]; poly(U) RNA binding [GO:0008266]; protein heterodimerization activity [GO:0046982]; SH2 domain binding [GO:0042169]; SH3 domain binding [GO:0017124]; mRNA processing [GO:0006397]; regulation of mRNA splicing, via spliceosome [GO:0048024]


uniprotID: Q13241
geneSymbol: KLRD1
reactome: R-HSA-198933;R-HSA-2172127;R-HSA-2424491;
pdb: 1B6E;3BDW;3CDG;3CII;
length: 179
go: ENSG00000134539;
snps: rs10772256
location: SUBCELLULAR LOCATION: Membrane; Single-pass type II membrane protein.
name:
Natural killer cells antigen CD94 (KP43) (Killer cell lectin-like receptor subfamily D member 1) (NK cell receptor) (CD antigen CD94)

sequence:
MAVFKTTLWRLISGTLGIICLSLMSTLGILLKNSFTKLSIEPAFTPGPNIELQKDSDCCSCQEKWVGYRCNCYFISSEQKTWNESRHLCASQKSSLLQLQNTDELDFMSSSQQFYWIGLSYSEEHTAWLWENGSALSQYLFPSFETFNTKNCIAYNPNGNALDESCEDKNRYICKQQLI

opentargets:
external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; carbohydrate binding [GO:0030246]; MHC class I protein complex binding [GO:0023024]; MHC class Ib protein binding, via antigen binding groove [GO:0023030]; protein antigen binding [GO:1990405]; transmembrane signaling receptor activity [GO:0004888]; cell surface receptor signaling pathway [GO:0007166]; innate immune response [GO:0045087]; natural killer cell mediated immunity [GO:0002228]; regulation of immune response [GO:0050776]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=CD94-A; IsoId=Q13241-1; Sequence=Displayed; Name=2; Synonyms=CD94-B; IsoId=Q13241-2; Sequence=VSP_003053; Name=3; Synonyms=CD94 alt; IsoId=Q13241-3; Sequence=VSP_003052; 


uniprotID: Q14558
geneSymbol: PRPSAP1
pdb: 2C4K;
length: 356
go: ENSG00000161542;
name:
Phosphoribosyl pyrophosphate synthase-associated protein 1 (PRPP synthase-associated protein 1) (39 kDa phosphoribosypyrophosphate synthase-associated protein) (PAP39)

sequence:

opentargets:
cytoplasm [GO:0005737]; ribose phosphate diphosphokinase complex [GO:0002189]; enzyme inhibitor activity [GO:0004857]; enzyme regulator activity [GO:0030234]; identical protein binding [GO:0042802]; magnesium ion binding [GO:0000287]; ribose phosphate diphosphokinase activity [GO:0004749]; 5-phosphoribose 1-diphosphate biosynthetic process [GO:0006015]; nucleobase-containing compound metabolic process [GO:0006139]; nucleotide biosynthetic process [GO:0009165]; purine nucleotide biosynthetic process [GO:0006164]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14558-1; Sequence=Displayed; Name=2; IsoId=Q14558-2; Sequence=VSP_039062; 


uniprotID: Q9Y4X4
geneSymbol: KLF12
name: Krueppel-like factor 12 (Transcriptional repressor AP-2rep)
length: 402
go: ENSG00000118922;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; metal ion binding [GO:0046872]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription corepressor activity [GO:0003714]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y4X4-1; Sequence=Displayed; Name=2; IsoId=Q9Y4X4-2; Sequence=VSP_006876; Name=3; IsoId=Q9Y4X4-3; Sequence=VSP_047486, VSP_047487; 


uniprotID: Q8N4N3
geneSymbol: KLHL36
name: Kelch-like protein 36
length: 616
go: ENSG00000135686;
opentargets: protein ubiquitination [GO:0016567]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N4N3-1; Sequence=Displayed; Name=2; IsoId=Q8N4N3-2; Sequence=VSP_022867; Note=No experimental confirmation available.; 


uniprotID: Q5VTJ3
geneSymbol: KLHDC7A
name: Kelch domain-containing protein 7A
length: 777
go: ENSG00000179023;
opentargets: integral component of membrane [GO:0016021]
snps: rs7512414 rs34976233 rs2992755 rs2992752 rs11261022 rs7515150 rs2992753 rs2992752
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q6L8H2
geneSymbol: KRTAP5-3
reactome: R-HSA-6805567;
length: 238
go: ENSG00000196224;
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
drug: DB02379;
snps: rs7129002 rs7108370 rs7125831 rs7125826 rs7113784
name:
Keratin-associated protein 5-3 (Keratin-associated protein 5-9) (Keratin-associated protein 5.3) (Keratin-associated protein 5.9) (UHS KerB-like) (Ultrahigh sulfur keratin-associated protein 5.3)

sequence:


uniprotID: Q3LHN0
geneSymbol: KRTAP25-1
reactome: R-HSA-6805567;
name: Keratin-associated protein 25-1
length: 102
opentargets: cytosol [GO:0005829]; intermediate filament [GO:0005882]; keratinization [GO:0031424]
snps: rs8127420
sequence:
MHNRSQGFFFSSCHPQNHVSYGCQSPSFIFCRCQSLNFVSRTCYPLSYFSYGNQTIGSISNSFRSLNYVSHSFQPISFMHSSFQPACSDFVGWQSPFLRRTC


uniprotID: Q6PEX3
geneSymbol: KRTAP26-1
reactome: R-HSA-6805567;
name: Keratin-associated protein 26-1
length: 210
opentargets: cytosol [GO:0005829]; intermediate filament [GO:0005882]; keratinization [GO:0031424]
snps: rs3804007 rs12483584
sequence:


uniprotID: Q9P2K6
geneSymbol: KLHL42
reactome: R-HSA-8951664;R-HSA-983168;
name: Kelch-like protein 42 (Cullin-3-binding protein 9) (Ctb9) (Kelch domain-containing protein 5)
length: 505
go: ENSG00000087448;
sequence:

opentargets:
Cul3-RING ubiquitin ligase complex [GO:0031463]; cytosol [GO:0005829]; spindle [GO:0005819]; cell cycle [GO:0007049]; cell division [GO:0051301]; post-translational protein modification [GO:0043687]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein polyubiquitination [GO:0000209]; regulation of microtubule-based process [GO:0032886]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19261606}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:19261606}. Note=Predominantly in mitotic cells. Localized diffusely in the cytoplasm during the interphase. During metaphase is localized throughout the cell and more widely dispersed than the microtubules. In anaphase cells is localized between the two sets of separated chromosomes as well as at the spindle poles. During telophase is localized arround the nuclei of the two daughter cells. Not detected at the midbody region during cytokinesis.


uniprotID: A8MX34
geneSymbol: KRTAP29-1
reactome: R-HSA-6805567;
name: Keratin-associated protein 29-1 (Keratin-associated protein 29.2)
length: 341
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
sequence:


uniprotID: Q99456
geneSymbol: KRT12
reactome: R-HSA-6805567;R-HSA-6809371;
name: Keratin, type I cytoskeletal 12 (Cytokeratin-12) (CK-12) (Keratin-12) (K12)
length: 494
go: ENSG00000187242;
drug: DB00400;
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intermediate filament [GO:0005882]; structural molecule activity [GO:0005198]; cornification [GO:0070268]; keratinization [GO:0031424]; visual perception [GO:0007601]

snps:
rs11650915 rs17566772 rs28936695 rs267607387 rs58864803 rs886038212 rs58410481 rs57218384 rs61282718 rs57218384 rs58038639 rs58918655 rs58343600 rs59350319 rs59202432 rs58162394 rs62635290 rs267607386 


uniprotID: Q8IV33
geneSymbol: KIAA0825
name: Uncharacterized protein KIAA0825
length: 1275
go: ENSG00000185261;
snps: rs2044909
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IV33-1; Sequence=Displayed; Name=2; IsoId=Q8IV33-2; Sequence=VSP_039414, VSP_039415; Name=3; IsoId=Q8IV33-3; Sequence=VSP_039416, VSP_039417, VSP_039418; Note=No experimental confirmation available.; 


uniprotID: Q8NCT3
geneSymbol: KIAA0895
name: Uncharacterized protein KIAA0895
length: 520
go: ENSG00000164542;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q8NCT3-1; Sequence=Displayed; Name=2; IsoId=Q8NCT3-2; Sequence=VSP_031685; Note=No experimental confirmation available.; Name=3; IsoId=Q8NCT3-3; Sequence=VSP_031686; Name=4; IsoId=Q8NCT3-4; Sequence=VSP_031685, VSP_031687; Note=No experimental confirmation available.; Name=5; IsoId=Q8NCT3-5; Sequence=VSP_043322, VSP_043323; Note=No experimental confirmation available.; Name=6; IsoId=Q8NCT3-6; Sequence=VSP_031686, VSP_043323; Note=No experimental confirmation available.; 


uniprotID: Q5VZ46
geneSymbol: KIAA1614
name: Uncharacterized protein KIAA1614
length: 1190
snps: rs10732273 rs3747959 rs17302207 rs3795504 rs2331995
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5VZ46-1; Sequence=Displayed; Name=2; IsoId=Q5VZ46-2; Sequence=VSP_030081; 


uniprotID: Q8N371
geneSymbol: KDM8
reactome: R-HSA-3214842;
pdb: 3UYJ;4AAP;4GAZ;4GJY;4GJZ;4QU1;5FBJ;6AVS;6AX3;6F4M;6F4N;6F4O;6F4P;6F4Q;6F4R;6F4S;6F4T;
length: 416
go: ENSG00000155666;
snps: rs34445573
name:
JmjC domain-containing protein 5 (EC 1.14.11.27) (EC 3.4.-.-) (Jumonji domain-containing protein 5) (Lysine-specific demethylase 8)

sequence:

opentargets:
chromosome [GO:0005694]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; histone demethylase activity [GO:0032452]; histone demethylase activity (H3-K36 specific) [GO:0051864]; metal ion binding [GO:0046872]; peptidase activity [GO:0008233]; G2/M transition of mitotic cell cycle [GO:0000086]; histone H3-K36 demethylation [GO:0070544]; positive regulation of transcription, DNA-templated [GO:0045893]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N371-1; Sequence=Displayed; Name=2; IsoId=Q8N371-2; Sequence=VSP_026370; Note=No experimental confirmation available.; Name=3; IsoId=Q8N371-3; Sequence=VSP_039893; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20457893, ECO:0000269|PubMed:28982940}. Chromosome {ECO:0000269|PubMed:24981860}. Note=Colocalizes with trimethylated 'Lys-9' of histone H3 (H3K9me3). {ECO:0000269|PubMed:24981860}.


uniprotID: P49862
geneSymbol: KLK7
reactome: R-HSA-1474228;
pdb: 2QXG;2QXH;2QXI;2QXJ;3BSQ;5FAH;5Y9L;5YJK;
length: 253
go: ENSG00000169035;
name:
Kallikrein-7 (hK7) (EC 3.4.21.117) (Serine protease 6) (Stratum corneum chymotryptic enzyme) (hSCCE)

sequence:

opentargets:
epidermal lamellar body [GO:0097209]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; secretory granule [GO:0030141]; metalloendopeptidase activity [GO:0004222]; peptidase activity [GO:0008233]; serine-type endopeptidase activity [GO:0004252]; serine-type peptidase activity [GO:0008236]; epidermis development [GO:0008544]; extracellular matrix disassembly [GO:0022617]; positive regulation of antibacterial peptide production [GO:0002803]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Long; IsoId=P49862-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P49862-2; Sequence=VSP_013581; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:12738725}. Note=In ovarian carcinoma, secreted and also observed at the apical membrane and in cytoplasm at the invasive front.


uniprotID: Q96CT2
geneSymbol: KLHL29
name: Kelch-like protein 29 (Kelch repeat and BTB domain-containing protein 9)
length: 875
go: ENSG00000119771;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96CT2-1; Sequence=Displayed; Name=2; IsoId=Q96CT2-2; Sequence=VSP_010403; 


uniprotID: Q9NVR0
geneSymbol: KLHL11
reactome: R-HSA-8951664;R-HSA-983168;
pdb: 3I3N;4AP2;4APF;
name: Kelch-like protein 11
length: 708
go: ENSG00000178502;
opentargets: cytosol [GO:0005829]; post-translational protein modification [GO:0043687]
sequence:


uniprotID: O60870
geneSymbol: KIN
reactome: R-HSA-8876725;
pdb: 2CKK;2V1N;
length: 393
go: ENSG00000151657;
name:
DNA/RNA-binding protein KIN17 (Binding to curved DNA) (KIN, antigenic determinant of recA protein homolog)

sequence:

opentargets:
cytoplasm [GO:0005737]; intracellular membrane-bounded organelle [GO:0043231]; nuclear matrix [GO:0016363]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; DNA binding [GO:0003677]; double-stranded DNA binding [GO:0003690]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; cellular response to DNA damage stimulus [GO:0006974]; DNA recombination [GO:0006310]; DNA repair [GO:0006281]; DNA replication [GO:0006260]; mRNA processing [GO:0006397]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60870-1; Sequence=Displayed; Name=2; IsoId=O60870-2; Sequence=VSP_056074; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11880372, ECO:0000269|PubMed:12359749, ECO:0000269|PubMed:12754299, ECO:0000269|PubMed:12853634, ECO:0000269|PubMed:15831485}. Cytoplasm {ECO:0000269|PubMed:11880372, ECO:0000269|PubMed:12359749, ECO:0000269|PubMed:12754299, ECO:0000269|PubMed:12853634, ECO:0000269|PubMed:15831485}. Note=During S phase, strongly associated with the nuclear matrix, and to chromosomal DNA in the presence of DNA damage. Also shows cytoplasmic localization in elongated spermatids. {ECO:0000250|UniProtKB:Q8K339, ECO:0000269|PubMed:11880372, ECO:0000269|PubMed:12359749, ECO:0000269|PubMed:12754299, ECO:0000269|PubMed:12853634, ECO:0000269|PubMed:15831485}.


uniprotID: Q96M94
geneSymbol: KLHL15
name: Kelch-like protein 15
length: 604
go: ENSG00000174010;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:27561354}.
sequence:

opentargets:
Cul3-RING ubiquitin ligase complex [GO:0031463]; nucleus [GO:0005634]; negative regulation of double-strand break repair via homologous recombination [GO:2000042]; nuclear protein quality control by the ubiquitin-proteasome system [GO:0071630]; protein ubiquitination [GO:0016567]; ubiquitin-dependent protein catabolic process [GO:0006511]


uniprotID: P60413
geneSymbol: KRTAP10-12
reactome: R-HSA-6805567;
length: 245
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
snps: rs35076450 rs34302939
name:
Keratin-associated protein 10-12 (High sulfur keratin-associated protein 10.12) (Keratin-associated protein 10.12) (Keratin-associated protein 18-12) (Keratin-associated protein 18.12)

sequence:


uniprotID: P59990
geneSymbol: KRTAP12-1
reactome: R-HSA-6805567;
sequence: MCHTSCSSGCQPACCAPSPCQASCYIPVGCQSSVCVPVSFKPAVCVPVRCQSSVCVPVSCRPVVYAAPSCQSSGCCQPSCTSVLCRPISCSTPSCC
length: 96
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
name:
Keratin-associated protein 12-1 (High sulfur keratin-associated protein 12.1) (Keratin-associated protein 12.1)


uniprotID: O94889
geneSymbol: KLHL18
name: Kelch-like protein 18
length: 574
go: ENSG00000114648;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O94889-1; Sequence=Displayed; Name=2; IsoId=O94889-2; Sequence=VSP_035974; 


uniprotID: Q9UPP5
geneSymbol: KIAA1107
name: AP2-interacting clathrin-endocytosis protein (APache)
length: 1409
sequence:

opentargets:
axon [GO:0030424]; cell body [GO:0044297]; cell junction [GO:0030054]; clathrin-coated vesicle [GO:0030136]; neuron projection terminus [GO:0044306]; postsynapse [GO:0098794]; presynapse [GO:0098793]; presynaptic membrane [GO:0042734]; synaptic vesicle [GO:0008021]; clathrin-dependent synaptic vesicle endocytosis [GO:0150007]; neuron projection development [GO:0031175]; synaptic vesicle recycling via endosome [GO:0036466]

snps:
rs2128647 rs12084085 rs7552286 rs11166332 rs7523466 rs7523552 rs3738439 rs560389 rs565156 rs17578364 rs566576 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UPP5-1; Sequence=Displayed; Name=2; IsoId=Q9UPP5-2; Sequence=VSP_031737, VSP_031738; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell projection, axon {ECO:0000250|UniProtKB:Q80TK0}. Cell junction, synapse, presynaptic cell membrane {ECO:0000250|UniProtKB:Q80TK0}. Cytoplasmic vesicle, clathrin-coated vesicle {ECO:0000250|UniProtKB:D4A0X3}. Note=In primary cultures, mainly present at axonal and presynaptic terminal levels of mature neurons. In immature neurons, localizes to the cell body and growing processes, including axons. {ECO:0000250|UniProtKB:Q80TK0}.


uniprotID: Q6ZWB6
geneSymbol: KCTD8
name: BTB/POZ domain-containing protein KCTD8
length: 473
go: ENSG00000183783;
snps: rs13115990
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 {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}.


uniprotID: O60341
geneSymbol: KDM1A
reactome: R-HSA-3214815;R-HSA-3214842;R-HSA-5625886;R-HSA-8943724;R-HSA-9018519;R-HSA-983231;
length: 852
go: ENSG00000004487;
snps: rs864309715 rs864309716 rs864309714
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11102443, ECO:0000269|PubMed:16079795}.
pdb:
2COM;2DW4;2EJR;2H94;2HKO;2IW5;2L3D;2UXN;2UXX;2V1D;2X0L;2XAF;2XAG;2XAH;2XAJ;2XAQ;2XAS;2Y48;2Z3Y;2Z5U;3ABT;3ABU;3ZMS;3ZMT;3ZMU;3ZMV;3ZMZ;3ZN0;3ZN1;4BAY;4CZZ;4KUM;4UV8;4UV9;4UVA;4UVB;4UVC;4UXN;4XBF;5AFW;5H6Q;5H6R;5IT3;5L3B;5L3C;5L3D;5L3E;5L3F;5L3G;5LBQ;5LGN;5LGT;5LGU;5LHG;5LHH;5LHI;5X60;5YJB;

name:
Lysine-specific histone demethylase 1A (EC 1.-.-.-) (BRAF35-HDAC complex protein BHC110) (Flavin-containing amine oxidase domain-containing protein 2)

sequence:

opentargets:
DNA repair complex [GO:1990391]; nuclear chromatin [GO:0000790]; nuclear chromosome, telomeric region [GO:0000784]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; transcription factor complex [GO:0005667]; androgen receptor binding [GO:0050681]; chromatin binding [GO:0003682]; demethylase activity [GO:0032451]; enzyme binding [GO:0019899]; flavin adenine dinucleotide binding [GO:0050660]; histone deacetylase activity [GO:0004407]; histone demethylase activity [GO:0032452]; histone demethylase activity (H3-dimethyl-K4 specific) [GO:0034648]; histone demethylase activity (H3-K4 specific) [GO:0032453]; histone demethylase activity (H3-K9 specific) [GO:0032454]; MRF binding [GO:0043426]; nuclear receptor transcription coactivator activity [GO:0030374]; oxidoreductase activity [GO:0016491]; p53 binding [GO:0002039]; telomeric DNA binding [GO:0042162]; telomeric repeat-containing RNA binding [GO:0061752]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; alternative mRNA splicing, via spliceosome [GO:0000380]; blood coagulation [GO:0007596]; cellular response to cAMP [GO:0071320]; cellular response to gamma radiation [GO:0071480]; cellular response to UV [GO:0034644]; cerebral cortex development [GO:0021987]; guanine metabolic process [GO:0046098]; histone H3-K4 demethylation [GO:0034720]; histone H3-K9 demethylation [GO:0033169]; muscle cell development [GO:0055001]; negative regulation of DNA binding [GO:0043392]; negative regulation of DNA damage response, signal transduction by p53 class mediator [GO:0043518]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:1902166]; negative regulation of protein binding [GO:0032091]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; neuron maturation [GO:0042551]; positive regulation of cell size [GO:0045793]; positive regulation of chromatin binding [GO:0035563]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of histone ubiquitination [GO:0033184]; positive regulation of neuroblast proliferation [GO:0002052]; positive regulation of neuron projection development [GO:0010976]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein demethylation [GO:0006482]; regulation of cellular protein localization [GO:1903827]; regulation of double-strand break repair via homologous recombination [GO:0010569]; regulation of transcription by RNA polymerase II [GO:0006357]; response to fungicide [GO:0060992]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60341-1; Sequence=Displayed; Name=2; IsoId=O60341-2; Sequence=VSP_011198, VSP_011199; Note=No experimental confirmation available.; 


uniprotID: Q8N5I3
geneSymbol: KCNRG
name: Potassium channel regulatory protein (Potassium channel regulator) (Protein CLLD4)
length: 272
go: ENSG00000198553;
location: SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000269|PubMed:19968958}.
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; identical protein binding [GO:0042802]; negative regulation of delayed rectifier potassium channel activity [GO:1902260]; protein homooligomerization [GO:0051260]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=B; IsoId=Q8N5I3-1; Sequence=Displayed; Name=2; Synonyms=A; IsoId=Q8N5I3-2; Sequence=VSP_019018, VSP_019021; 


uniprotID: Q07866
geneSymbol: KLC1
reactome: R-HSA-2132295;R-HSA-5625970;R-HSA-6811434;R-HSA-983189;
pdb: 3NF1;5OJ8;
name: Kinesin light chain 1 (KLC 1)
length: 573
go: ENSG00000126214;
sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; growth cone [GO:0030426]; kinesin complex [GO:0005871]; membrane [GO:0016020]; microtubule [GO:0005874]; neuronal cell body [GO:0043025]; microtubule motor activity [GO:0003777]; motor activity [GO:0003774]; tubulin binding [GO:0015631]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; intracellular protein transport [GO:0006886]; microtubule-based movement [GO:0007018]; protein localization to synapse [GO:0035418]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]; stress granule disassembly [GO:0035617]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=10;  Comment=Additional isoforms seem to exist. Has the potential to produce 285'919 splice forms.; Name=A; IsoId=Q07866-1; Sequence=Displayed; Name=C; Synonyms=KLC1C, R, KLC1R; IsoId=Q07866-2; Sequence=VSP_008018; Name=G; Synonyms=KLC1G; IsoId=Q07866-3; Sequence=VSP_008017; Name=J; Synonyms=KLC1J; IsoId=Q07866-4; Sequence=VSP_008019, VSP_008020; Name=K; Synonyms=KLC1K; IsoId=Q07866-5; Sequence=VSP_008019; Name=N; Synonyms=KLC1N; IsoId=Q07866-6; Sequence=VSP_008017, VSP_008019, VSP_008020; Name=P; Synonyms=KLC1P; IsoId=Q07866-7; Sequence=VSP_008021; Name=S; Synonyms=KLC1S, Q, KLC1Q; IsoId=Q07866-8; Sequence=VSP_008017, VSP_008018; Name=I; IsoId=Q07866-9; Sequence=VSP_023323; Name=D; Synonyms=KLC1D; IsoId=Q07866-10; Sequence=VSP_046424; 

location:
SUBCELLULAR LOCATION: Cell projection, growth cone {ECO:0000250}. Cytoplasmic vesicle {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000305|PubMed:14970196}.


uniprotID: Q13118
geneSymbol: KLF10
pdb: 2EPA;
length: 480
go: ENSG00000155090;
snps: rs4734653
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:O89091}.
name:
Krueppel-like factor 10 (EGR-alpha) (Transforming growth factor-beta-inducible early growth response protein 1) (TGFB-inducible early growth response protein 1) (TIEG-1)

sequence:

opentargets:
nucleus [GO:0005634]; core promoter sequence-specific DNA binding [GO:0001046]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; bone mineralization [GO:0030282]; cell proliferation [GO:0008283]; cell-cell signaling [GO:0007267]; cellular response to peptide [GO:1901653]; cellular response to starvation [GO:0009267]; circadian rhythm [GO:0007623]; negative regulation of cell proliferation [GO:0008285]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of osteoclast differentiation [GO:0045672]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of circadian rhythm [GO:0042752]; regulation of transcription by RNA polymerase II [GO:0006357]; skeletal system development [GO:0001501]; somatic stem cell population maintenance [GO:0035019]; transforming growth factor beta receptor signaling pathway [GO:0007179]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q13118-1; Sequence=Displayed; Name=2; IsoId=Q13118-2; Sequence=VSP_042653; Note=No experimental confirmation available.; Name=3; IsoId=Q13118-3; Sequence=VSP_042653, VSP_047483, VSP_047484; Name=4; IsoId=Q13118-4; Sequence=VSP_042653, VSP_047482, VSP_047485; 


uniprotID: Q9UK76
geneSymbol: JPT1
length: 154
go: ENSG00000189159;
opentargets: cytoplasm [GO:0005737]; nuclear membrane [GO:0031965]; nucleolus [GO:0005730]; nucleus [GO:0005634]
name:
Jupiter microtubule associated homolog 1 (Androgen-regulated protein 2) (Hematological and neurological expressed 1 protein) [Cleaved into: Jupiter microtubule associated homolog 1, N-terminally processed]

sequence:
MTTTTTFKGVDPNSRNSSRVLRPPGGGSNFSLGFDEPTEQPVRKNKMASNIFGTPEENQASWAKSAGAKSSGGREDLESSGLQRRNSSEASSGDFLDLKGEGDIHENVDTDLPGSLGQSEEKPVPAAPVPSPVAPAPVPSRRNPPGGKSSLVLG

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=HN1A; IsoId=Q9UK76-1; Sequence=Displayed; Name=2; Synonyms=HN1B; IsoId=Q9UK76-2; Sequence=VSP_017133; Name=3; Synonyms=HN1C; IsoId=Q9UK76-3; Sequence=VSP_017132; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21323578}. Cytoplasm {ECO:0000269|PubMed:25169422}.


uniprotID: P48668
geneSymbol: KRT6C
reactome: R-HSA-6805567;R-HSA-6809371;
length: 564
go: ENSG00000170465;
snps: rs11608915 rs17099602 rs587777292 rs412533
name:
Keratin, type II cytoskeletal 6C (Cytokeratin-6C) (CK-6C) (Cytokeratin-6E) (CK-6E) (Keratin K6h) (Keratin-6C) (K6C) (Type-II keratin Kb12)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intermediate filament [GO:0005882]; keratin filament [GO:0045095]; structural molecule activity [GO:0005198]; cornification [GO:0070268]; intermediate filament cytoskeleton organization [GO:0045104]; keratinization [GO:0031424]


uniprotID: Q15323
geneSymbol: KRT31
reactome: R-HSA-6805567;R-HSA-6809371;
name: Keratin, type I cuticular Ha1 (Hair keratin, type I Ha1) (Keratin-31) (K31)
length: 416
go: ENSG00000094796;
snps: rs6503628 rs6503627 rs34293483
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; intermediate filament [GO:0005882]; structural constituent of cytoskeleton [GO:0005200]; cornification [GO:0070268]; epidermis development [GO:0008544]; keratinization [GO:0031424]


uniprotID: Q7Z3Y9
geneSymbol: KRT26
reactome: R-HSA-6805567;R-HSA-6809371;
length: 468
go: ENSG00000186393;
snps: rs9898164
name:
Keratin, type I cytoskeletal 26 (Cytokeratin-26) (CK-26) (Keratin-25B) (K25B) (Keratin-26) (K26) (Type I inner root sheath-specific keratin-K25irs2)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intermediate filament [GO:0005882]; structural molecule activity [GO:0005198]; cornification [GO:0070268]; keratinization [GO:0031424]


uniprotID: P08779
geneSymbol: KRT16
reactome: R-HSA-6805567;R-HSA-6809371;
name: Keratin, type I cytoskeletal 16 (Cytokeratin-16) (CK-16) (Keratin-16) (K16)
length: 473
go: ENSG00000186832;
sequence:

opentargets:
cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intermediate filament [GO:0005882]; nucleus [GO:0005634]; structural constituent of cytoskeleton [GO:0005200]; aging [GO:0007568]; cell proliferation [GO:0008283]; cornification [GO:0070268]; cytoskeleton organization [GO:0007010]; epidermis development [GO:0008544]; establishment of skin barrier [GO:0061436]; hair cycle [GO:0042633]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; intermediate filament cytoskeleton organization [GO:0045104]; keratinization [GO:0031424]; keratinocyte differentiation [GO:0030216]; keratinocyte migration [GO:0051546]; morphogenesis of an epithelium [GO:0002009]; negative regulation of cell migration [GO:0030336]

snps:
rs28928894 rs59349773 rs58293603 rs58293603 rs58293603 rs58608173 rs587777717 rs60723330 rs59856285 rs57424749 rs28928895 rs60944949 rs59328451 


uniprotID: Q13303
geneSymbol: KCNAB2
reactome: R-HSA-1296072;R-HSA-6798695;
pdb: 1ZSX;
length: 367
go: ENSG00000069424;
name:
Voltage-gated potassium channel subunit beta-2 (EC 1.1.1.-) (K(+) channel subunit beta-2) (Kv-beta-2) (hKvbeta2)

sequence:

opentargets:
axon terminus [GO:0043679]; cell junction [GO:0030054]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; juxtaparanode region of axon [GO:0044224]; membrane [GO:0016020]; pinceau fiber [GO:1990031]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; specific granule membrane [GO:0035579]; tertiary granule membrane [GO:0070821]; voltage-gated potassium channel complex [GO:0008076]; aldo-keto reductase (NADP) activity [GO:0004033]; potassium channel regulator activity [GO:0015459]; voltage-gated potassium channel activity [GO:0005249]; hematopoietic progenitor cell differentiation [GO:0002244]; NADPH oxidation [GO:0070995]; neuromuscular process [GO:0050905]; neutrophil degranulation [GO:0043312]; oxidation-reduction process [GO:0055114]; regulation of potassium ion transmembrane transport [GO:1901379]; regulation of protein localization to cell surface [GO:2000008]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=KvB2.1; IsoId=Q13303-1; Sequence=Displayed; Name=2; Synonyms=KvB2.2; IsoId=Q13303-2; Sequence=VSP_001054; Name=3; IsoId=Q13303-3; Sequence=VSP_041189, VSP_041190; Name=4; IsoId=Q13303-4; Sequence=VSP_044311; Name=5; IsoId=Q13303-5; Sequence=VSP_057282; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P62483}. Membrane {ECO:0000269|PubMed:11086297, ECO:0000269|PubMed:21357749}; Peripheral membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Cell membrane {ECO:0000250|UniProtKB:P62483}; Peripheral membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Cell projection, axon {ECO:0000269|PubMed:11086297}. Cell junction, synapse, synaptosome {ECO:0000269|PubMed:21357749}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:P62483}. Note=Recruited to the cytoplasmic side of the cell membrane via its interaction with pore-forming potassium channel alpha subunits. Associates with microtubules when unphosphorylated. {ECO:0000250|UniProtKB:P62483}.


uniprotID: P56696
geneSymbol: KCNQ4
reactome: R-HSA-1296072;
pdb: 2OVC;4GOW;
length: 695
go: ENSG00000117013;
drug: DB04953;DB06089;
snps: rs80358276 rs80358277 rs80358278 rs28937588 rs28937588 rs137853969 rs28939710 rs34287852
name:
Potassium voltage-gated channel subfamily KQT member 4 (KQT-like 4) (Potassium channel subunit alpha KvLQT4) (Voltage-gated potassium channel subunit Kv7.4)

sequence:

opentargets:
basal plasma membrane [GO:0009925]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; calmodulin binding [GO:0005516]; delayed rectifier potassium channel activity [GO:0005251]; potassium channel activity [GO:0005267]; voltage-gated potassium channel activity [GO:0005249]; inner ear morphogenesis [GO:0042472]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]; regulation of ion transmembrane transport [GO:0034765]; sensory perception of sound [GO:0007605]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=P56696-1; Sequence=Displayed; Name=2; IsoId=P56696-2; Sequence=VSP_001013; 

location:
SUBCELLULAR LOCATION: Basal cell membrane; Multi-pass membrane protein. Note=Situated at the basal membrane of cochlear outer hair cells. {ECO:0000250}.


uniprotID: Q53HC5
geneSymbol: KLHL26
name: Kelch-like protein 26
length: 615
go: ENSG00000167487;
snps: rs17852384
sequence:


uniprotID: Q03426
geneSymbol: MVK
reactome: R-HSA-191273;R-HSA-2426168;
pdb: 2R3V;
name: Mevalonate kinase (MK) (EC 2.7.1.36)
length: 396
go: ENSG00000110921;
drug: DB04695;
sequence:

opentargets:
cytosol [GO:0005829]; peroxisome [GO:0005777]; ATP binding [GO:0005524]; identical protein binding [GO:0042802]; magnesium ion binding [GO:0000287]; mevalonate kinase activity [GO:0004496]; cholesterol biosynthetic process [GO:0006695]; isopentenyl diphosphate biosynthetic process, mevalonate pathway [GO:0019287]; isoprenoid biosynthetic process [GO:0008299]; negative regulation of inflammatory response [GO:0050728]; regulation of cholesterol biosynthetic process [GO:0045540]

snps:
rs11544299 rs104895295 rs104895335 rs104895296 rs397514571 rs7957619 rs104895336 rs104895297 rs104895298 rs747116992 rs104895300 rs104895337 rs104895301 rs104895325 rs104895303 rs104895314 rs104895339 rs397514570 rs104895315 rs104895316 rs104895316 rs104895304 rs121917789 rs104895305 rs104895319 rs104895308 rs104895317 rs11614976 rs104895342 rs398122911 rs971159663 rs104895340 rs28934897 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14730012}. Peroxisome {ECO:0000250|UniProtKB:P17256}.


uniprotID: Q53G59
geneSymbol: KLHL12
reactome: R-HSA-4641258;
pdb: 2VPJ;
name: Kelch-like protein 12 (CUL3-interacting protein 1) (DKIR homolog) (hDKIR)
length: 568
go: ENSG00000117153;
snps: rs12569087
sequence:

opentargets:
COPII vesicle coat [GO:0030127]; COPII-coated ER to Golgi transport vesicle [GO:0030134]; Cul3-RING ubiquitin ligase complex [GO:0031463]; cytosol [GO:0005829]; Golgi membrane [GO:0000139]; intracellular membrane-bounded organelle [GO:0043231]; microtubule organizing center [GO:0005815]; identical protein binding [GO:0042802]; COPII vesicle coating [GO:0048208]; ER to Golgi vesicle-mediated transport [GO:0006888]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; neural crest cell development [GO:0014032]; neural crest formation [GO:0014029]; protein monoubiquitination [GO:0006513]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q53G59-1; Sequence=Displayed; Name=2; IsoId=Q53G59-2; Sequence=VSP_042975; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, COPII-coated vesicle {ECO:0000269|PubMed:22358839, ECO:0000269|PubMed:27716508}.


uniprotID: P01042
geneSymbol: KNG1
reactome: R-HSA-114608;R-HSA-140837;R-HSA-375276;R-HSA-381426;R-HSA-416476;R-HSA-418594;R-HSA-8957275;
pdb: 1NY2;2WOK;4ASQ;4ASR;4ECB;4ECC;5I25;6F27;6F3V;6F3W;6F3X;6F3Y;
length: 644
go: ENSG00000113889;
snps: rs5030015 rs1656922 rs2304456 rs5030024 rs5030084 rs710446 rs5030087
location: SUBCELLULAR LOCATION: Secreted, extracellular space.
name:
Kininogen-1 (Alpha-2-thiol proteinase inhibitor) (Fitzgerald factor) (High molecular weight kininogen) (HMWK) (Williams-Fitzgerald-Flaujeac factor) [Cleaved into: Kininogen-1 heavy chain; T-kinin (Ile-Ser-Bradykinin); Bradykinin (Kallidin I); Lysyl-bradykinin (Kallidin II); Kininogen-1 light chain; Low molecular weight growth-promoting factor]

sequence:

opentargets:
blood microparticle [GO:0072562]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; platelet alpha granule lumen [GO:0031093]; cysteine-type endopeptidase inhibitor activity [GO:0004869]; heparin binding [GO:0008201]; signaling receptor binding [GO:0005102]; zinc ion binding [GO:0008270]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; blood coagulation, intrinsic pathway [GO:0007597]; cellular protein metabolic process [GO:0044267]; G protein-coupled receptor signaling pathway [GO:0007186]; inflammatory response [GO:0006954]; killing of cells of other organism [GO:0031640]; negative regulation of blood coagulation [GO:0030195]; negative regulation of cell adhesion [GO:0007162]; negative regulation of endopeptidase activity [GO:0010951]; negative regulation of proteolysis [GO:0045861]; platelet degranulation [GO:0002576]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; post-translational protein modification [GO:0043687]; vasodilation [GO:0042311]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=HMW; IsoId=P01042-1; Sequence=Displayed; Name=LMW; IsoId=P01042-2; Sequence=VSP_001261, VSP_001262; Name=3; IsoId=P01042-3; Sequence=VSP_047307, VSP_047308; Note=Gene prediction based on EST data.; 


uniprotID: Q9P0G3
geneSymbol: KLK14
reactome: R-HSA-6809371;
name: Kallikrein-14 (hK14) (EC 3.4.21.-) (Kallikrein-like protein 6) (KLK-L6)
length: 267
go: ENSG00000129437;
snps: rs35287116 rs2569491 rs2569490
sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; secretory granule [GO:0030141]; serine-type endopeptidase activity [GO:0004252]; cornification [GO:0070268]; epidermis morphogenesis [GO:0048730]; fertilization [GO:0009566]; negative regulation of G protein-coupled receptor signaling pathway [GO:0045744]; positive regulation of G protein-coupled receptor signaling pathway [GO:0045745]; proteolysis [GO:0006508]; seminal clot liquefaction [GO:0070684]

location:
SUBCELLULAR LOCATION: Secreted, extracellular space {ECO:0000269|PubMed:15654974, ECO:0000269|PubMed:16456535, ECO:0000269|PubMed:17110383}.


uniprotID: O43448
geneSymbol: KCNAB3
reactome: R-HSA-1296072;
name: Voltage-gated potassium channel subunit beta-3 (K(+) channel subunit beta-3) (Kv-beta-3)
length: 404
go: ENSG00000170049;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; potassium channel regulator activity [GO:0015459]; voltage-gated potassium channel activity [GO:0005249]; potassium ion transport [GO:0006813]; regulation of ion transmembrane transport [GO:0034765]


uniprotID: Q8NC69
geneSymbol: KCTD6
reactome: R-HSA-8931987;R-HSA-8951664;R-HSA-9018519;R-HSA-983168;
length: 237
go: ENSG00000168301;
name:
BTB/POZ domain-containing protein KCTD6 (KCASH3 protein) (Potassium channel tetramerization domain-containing protein 6)

sequence:

opentargets:
cytosol [GO:0005829]; M band [GO:0031430]; ankyrin binding [GO:0030506]; cullin family protein binding [GO:0097602]; identical protein binding [GO:0042802]; negative regulation of smoothened signaling pathway [GO:0045879]; post-translational protein modification [GO:0043687]; protein homooligomerization [GO:0051260]; protein ubiquitination [GO:0016567]; regulation of growth [GO:0040008]; regulation of intracellular estrogen receptor signaling pathway [GO:0033146]; ubiquitin-dependent protein catabolic process [GO:0006511]

location:
SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere, M line {ECO:0000269|PubMed:22573887}. Note=Colocalizes with ANK1 isoform Mu17 at the M line in differentiated skeletal muscle cells and heart. {ECO:0000269|PubMed:22573887}.


uniprotID: Q13557
geneSymbol: CAMK2D
pdb: 2VN9;2W2C;2WEL;3GP2;5VLO;6AYW;
length: 499
go: ENSG00000145349;
snps: rs35367671 rs1053668 rs35765784
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 delta (CaM kinase II subunit delta) (CaMK-II subunit delta) (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]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; sarcolemma [GO:0042383]; sarcoplasmic reticulum membrane [GO:0033017]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; calmodulin-dependent protein kinase activity [GO:0004683]; identical protein binding [GO:0042802]; ion channel binding [GO:0044325]; protein homodimerization activity [GO:0042803]; protein serine/threonine kinase activity [GO:0004674]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; sodium channel inhibitor activity [GO:0019871]; titin binding [GO:0031432]; cardiac muscle cell contraction [GO:0086003]; cellular response to calcium ion [GO:0071277]; endoplasmic reticulum calcium ion homeostasis [GO:0032469]; interferon-gamma-mediated signaling pathway [GO:0060333]; MAPK cascade [GO:0000165]; negative regulation of sodium ion transmembrane transport [GO:1902306]; negative regulation of sodium ion transmembrane transporter activity [GO:2000650]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; positive regulation of cardiac muscle cell apoptotic process [GO:0010666]; positive regulation of cardiac muscle hypertrophy [GO:0010613]; protein autophosphorylation [GO:0046777]; protein complex oligomerization [GO:0051259]; protein phosphorylation [GO:0006468]; regulation of calcium ion transmembrane transport via high voltage-gated calcium channel [GO:1902514]; regulation of cardiac muscle cell action potential [GO:0098901]; regulation of cardiac muscle cell action potential involved in regulation of contraction [GO:0098909]; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion [GO:0010881]; regulation of cell communication by electrical coupling [GO:0010649]; regulation of cell communication by electrical coupling involved in cardiac conduction [GO:1901844]; regulation of cell growth [GO:0001558]; regulation of cellular localization [GO:0060341]; regulation of heart contraction [GO:0008016]; regulation of heart rate by cardiac conduction [GO:0086091]; regulation of histone deacetylase activity [GO:1901725]; regulation of membrane depolarization [GO:0003254]; regulation of relaxation of cardiac muscle [GO:1901897]; regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum [GO:0010880]; regulation of ryanodine-sensitive calcium-release channel activity [GO:0060314]; regulation of the force of heart contraction [GO:0002026]; regulation of transcription by RNA polymerase II [GO:0006357]; relaxation of cardiac muscle [GO:0055119]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=10;  Name=Delta 2; IsoId=Q13557-1; Sequence=Displayed; Name=Delta 3; IsoId=Q13557-3; Sequence=VSP_023096; Name=Delta 4; IsoId=Q13557-4; Sequence=VSP_023097; Name=Delta 6; IsoId=Q13557-8; Sequence=VSP_023099; Name=Delta 7; IsoId=Q13557-9; Sequence=VSP_023096, VSP_023099; Name=Delta 8; IsoId=Q13557-5; Sequence=VSP_023097, VSP_023099; Name=Delta 9; IsoId=Q13557-6; Sequence=VSP_023098; Name=Delta 10; IsoId=Q13557-10; Sequence=VSP_023098, VSP_023099; Name=Delta 11; IsoId=Q13557-11; Sequence=VSP_023095; Name=Delta 12; IsoId=Q13557-12; Sequence=VSP_041820, VSP_023099; Note=No experimental confirmation available.; 

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


uniprotID: P41229
geneSymbol: KDM5C
reactome: R-HSA-3214842;
pdb: 2JRZ;5FWJ;
length: 1560
go: ENSG00000126012;
snps: rs199422235 rs199422237 rs1057518697 rs1057517955 rs199422234
name:
Lysine-specific demethylase 5C (EC 1.14.11.-) (Histone demethylase JARID1C) (Jumonji/ARID domain-containing protein 1C) (Protein SmcX) (Protein Xe169)

sequence:

opentargets:
cytosol [GO:0005829]; histone methyltransferase complex [GO:0035097]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; dioxygenase activity [GO:0051213]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; histone demethylase activity [GO:0032452]; histone demethylase activity (H3-K4 specific) [GO:0032453]; histone demethylase activity (H3-trimethyl-K4 specific) [GO:0034647]; methylated histone binding [GO:0035064]; zinc ion binding [GO:0008270]; histone H3-K4 demethylation [GO:0034720]; negative regulation of transcription, DNA-templated [GO:0045892]; rhythmic process [GO:0048511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=P41229-1; Sequence=Displayed; Name=2; IsoId=P41229-2; Sequence=VSP_000315; Name=3; IsoId=P41229-3; Sequence=VSP_026410, VSP_000315; Name=4; IsoId=P41229-4; Sequence=VSP_043752, VSP_026410, VSP_000315, VSP_043753; Note=No experimental confirmation available.; Name=5; IsoId=P41229-5; Sequence=VSP_053420; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00355, ECO:0000255|PROSITE-ProRule:PRU00537, ECO:0000269|PubMed:17468742}.


uniprotID: P60412
geneSymbol: KRTAP10-11
reactome: R-HSA-6805567;
length: 298
go: ENSG00000243489;
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
snps: rs4818952
name:
Keratin-associated protein 10-11 (High sulfur keratin-associated protein 10.11) (Keratin-associated protein 10.11) (Keratin-associated protein 18-11) (Keratin-associated protein 18.11)

sequence:


uniprotID: Q13886
geneSymbol: KLF9
length: 244
go: ENSG00000119138;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:22711835}.
name:
Krueppel-like factor 9 (Basic transcription element-binding protein 1) (BTE-binding protein 1) (GC-box-binding protein 1) (Transcription factor BTEB1)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; cellular response to cortisol stimulus [GO:0071387]; cellular response to thyroid hormone stimulus [GO:0097067]; circadian rhythm [GO:0007623]; negative regulation of keratinocyte proliferation [GO:0010839]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: Q86Z14
geneSymbol: KLB
pdb: 5VAK;5VAN;5VAQ;5WI9;
name: Beta-klotho (BKL) (BetaKlotho) (Klotho beta-like protein)
length: 1044
go: ENSG00000134962;
snps: rs34905034 rs17618244 rs35372803 rs17618262 rs4975017
reactome:
R-HSA-109704;R-HSA-1257604;R-HSA-1307965;R-HSA-2219530;R-HSA-5654228;R-HSA-5654712;R-HSA-5654719;R-HSA-5654720;R-HSA-5654733;R-HSA-5673001;R-HSA-6811558;

sequence:

opentargets:
integral component of membrane [GO:0016021]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; fibroblast growth factor binding [GO:0017134]; fibroblast growth factor receptor binding [GO:0005104]; hydrolase activity, hydrolyzing O-glycosyl compounds [GO:0004553]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; carbohydrate metabolic process [GO:0005975]; fibroblast growth factor receptor signaling pathway [GO:0008543]; MAPK cascade [GO:0000165]; positive regulation of cell proliferation [GO:0008284]; positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway [GO:0090080]; positive regulation of protein kinase B signaling [GO:0051897]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass type III membrane protein {ECO:0000305}.


uniprotID: Q96J84
geneSymbol: KIRREL1
reactome: R-HSA-373753;
name: Kin of IRRE-like protein 1 (Kin of irregular chiasm-like protein 1) (Nephrin-like protein 1)
length: 757
go: ENSG00000183853;
snps: rs35927201
sequence:

opentargets:
cell projection membrane [GO:0031253]; cell-cell junction [GO:0005911]; dendritic shaft [GO:0043198]; integral component of membrane [GO:0016021]; membrane raft [GO:0045121]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; myosin binding [GO:0017022]; cell-cell adhesion [GO:0098609]; excretion [GO:0007588]; negative regulation of protein phosphorylation [GO:0001933]; positive regulation of actin filament polymerization [GO:0030838]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96J84-1; Sequence=Displayed; Name=2; IsoId=Q96J84-2; Sequence=VSP_011733; Name=3; IsoId=Q96J84-3; Sequence=VSP_011732; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Note=Predominantly located at podocyte slit diaphragm.


uniprotID: O60662
geneSymbol: KLHL41
reactome: R-HSA-8951664;R-HSA-983168;
length: 606
go: ENSG00000239474;
snps: rs28763868 rs730882260 rs34623017
name:
Kelch-like protein 41 (Kel-like protein 23) (Kelch repeat and BTB domain-containing protein 10) (Kelch-related protein 1) (Sarcosin)

sequence:

opentargets:
Cul3-RING ubiquitin ligase complex [GO:0031463]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; M band [GO:0031430]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; pseudopodium [GO:0031143]; ruffle [GO:0001726]; sarcoplasmic reticulum membrane [GO:0033017]; myofibril assembly [GO:0030239]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]; regulation of lateral pseudopodium assembly [GO:0031275]; regulation of myoblast differentiation [GO:0045661]; regulation of myoblast proliferation [GO:2000291]; regulation of skeletal muscle cell differentiation [GO:2001014]; sarcomere organization [GO:0045214]; skeletal muscle cell differentiation [GO:0035914]; skeletal muscle fiber development [GO:0048741]; striated muscle contraction [GO:0006941]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=O60662-1; Sequence=Displayed; Name=Short; IsoId=O60662-2; Sequence=VSP_002819; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19424503}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:A2AUC9}. Cell projection, pseudopodium {ECO:0000250|UniProtKB:Q9ER30}. Cell projection, ruffle {ECO:0000250|UniProtKB:Q9ER30}. Cytoplasm, myofibril, sarcomere, M line {ECO:0000250|UniProtKB:A2AUC9}. Sarcoplasmic reticulum membrane {ECO:0000269|PubMed:24268659}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:24268659}. Note=Predominantly cytoplasmic but can colocalize with F-actin at the membrane ruffle-like structures at the tips of transformation-specific pseudopodia. {ECO:0000269|PubMed:19424503}.


uniprotID: Q8IYD2
geneSymbol: KLHDC8A
name: Kelch domain-containing protein 8A (Substitute for delta-EGFR expression 1) (S-delta-E1)
length: 350
go: ENSG00000162873;
sequence:


uniprotID: P24723
geneSymbol: PRKCH
reactome: R-HSA-114508;R-HSA-418597;
pdb: 2FK9;3TXO;
name: Protein kinase C eta type (EC 2.7.11.13) (PKC-L) (nPKC-eta)
length: 683
go: ENSG00000027075;
snps: rs55645551 rs55737090 rs55848048 rs55818778 rs2230500 rs11846991 rs34159231 rs35561533
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; enzyme binding [GO:0019899]; metal ion binding [GO:0046872]; protein kinase C activity [GO:0004697]; protein serine/threonine kinase activity [GO:0004674]; intracellular signal transduction [GO:0035556]; negative regulation of glial cell apoptotic process [GO:0034351]; peptidyl-serine phosphorylation [GO:0018105]; platelet activation [GO:0030168]; positive regulation of B cell receptor signaling pathway [GO:0050861]; positive regulation of glial cell proliferation [GO:0060252]; positive regulation of keratinocyte differentiation [GO:0045618]; positive regulation of macrophage derived foam cell differentiation [GO:0010744]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of protein localization to plasma membrane [GO:1903078]; protein phosphorylation [GO:0006468]; regulation of bicellular tight junction assembly [GO:2000810]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P24723-1; Sequence=Displayed; Name=2; IsoId=P24723-2; Sequence=VSP_056572; Note=No experimental confirmation available.; 


uniprotID: P23276
geneSymbol: KEL
reactome: R-HSA-375276;
name: Kell blood group glycoprotein (EC 3.4.24.-) (CD antigen CD238)
length: 732
go: ENSG00000197993;
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; cellular calcium ion homeostasis [GO:0006874]; cellular magnesium ion homeostasis [GO:0010961]; myelination [GO:0042552]; negative regulation of potassium ion transmembrane transport [GO:1901380]; regulation of axon diameter [GO:0031133]; regulation of cell size [GO:0008361]; skeletal muscle fiber development [GO:0048741]; vasoconstriction [GO:0042310]

snps:
rs8175974 rs61729039 rs8176058 rs61729040 rs61729042 rs61729036 rs8176059 rs61729034 rs61729037 rs61729038 rs61729041 rs61729035 rs61729032 rs61729033 rs8176038 rs8176048 

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass type II membrane protein. Note=Spans the erythrocyte membrane, and is attached to the underlying cytoskeleton.


uniprotID: Q9Y597
geneSymbol: KCTD3
name: BTB/POZ domain-containing protein KCTD3 (Renal carcinoma antigen NY-REN-45)
length: 815
go: ENSG00000136636;
opentargets: plasma membrane [GO:0005886]; protein homooligomerization [GO:0051260]
snps: rs2275768
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q8BFX3}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y597-1; Sequence=Displayed; Name=2; IsoId=Q9Y597-2; Sequence=VSP_020069; Note=No experimental confirmation available.; Name=3; IsoId=Q9Y597-3; Sequence=VSP_020068; Note=No experimental confirmation available.; 


uniprotID: Q13237
geneSymbol: PRKG2
reactome: R-HSA-1474151;R-HSA-4086398;R-HSA-418457;
pdb: 5BV6;5C6C;5C8W;5JIX;5JIZ;6BQ8;
length: 762
go: ENSG00000138669;
snps: rs34956759 rs34616910
name:
cGMP-dependent protein kinase 2 (cGK 2) (cGK2) (EC 2.7.11.12) (cGMP-dependent protein kinase II) (cGKII)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; cytosol [GO:0005829]; nuclear membrane [GO:0031965]; ATP binding [GO:0005524]; cGMP binding [GO:0030553]; cGMP-dependent protein kinase activity [GO:0004692]; protein homodimerization activity [GO:0042803]; protein kinase activity [GO:0004672]; cofactor metabolic process [GO:0051186]; negative regulation of chloride transport [GO:2001226]; peptidyl-serine autophosphorylation [GO:0036289]; protein localization to plasma membrane [GO:0072659]; protein phosphorylation [GO:0006468]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13237-1; Sequence=Displayed; Name=2; IsoId=Q13237-2; Sequence=VSP_055121; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:8636133}; Lipid-anchor {ECO:0000269|PubMed:8636133}.


uniprotID: Q9ULS6
geneSymbol: KCNS2
reactome: R-HSA-1296072;
length: 477
go: ENSG00000156486;
name:
Potassium voltage-gated channel subfamily S member 2 (Delayed-rectifier K(+) channel alpha subunit 2) (Voltage-gated potassium channel subunit Kv9.2)

sequence:

opentargets:
integral component of membrane [GO:0016021]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; 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]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:O35174}; Multi-pass membrane protein {ECO:0000250|UniProtKB:O35174}. Note=May not reach the plasma membrane but remain in an intracellular compartment in the absence of KCNB1 or KCNB2. {ECO:0000250|UniProtKB:O35174}.


uniprotID: P04183
geneSymbol: TK1
reactome: R-HSA-539107;R-HSA-73614;
pdb: 1W4R;1XBT;2ORV;2WVJ;
name: Thymidine kinase, cytosolic (EC 2.7.1.21)
length: 234
go: ENSG00000167900;
drug: DB01692;DB02452;DB00432;DB00495;
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytosol [GO:0005829]; ATP binding [GO:0005524]; identical protein binding [GO:0042802]; nucleoside kinase activity [GO:0019206]; thymidine kinase activity [GO:0004797]; zinc ion binding [GO:0008270]; DNA biosynthetic process [GO:0071897]; DNA metabolic process [GO:0006259]; nucleobase-containing compound metabolic process [GO:0006139]; protein homotetramerization [GO:0051289]; pyrimidine nucleoside salvage [GO:0043097]; thymidine metabolic process [GO:0046104]


uniprotID: A4D1S0
geneSymbol: KLRG2
name: Killer cell lectin-like receptor subfamily G member 2 (C-type lectin domain family 15 member B)
length: 409
go: ENSG00000188883;
opentargets: integral component of membrane [GO:0016021]; carbohydrate binding [GO:0030246]
snps: rs1860150 rs17160911
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A4D1S0-1; Sequence=Displayed; Name=2; IsoId=A4D1S0-2; Sequence=VSP_030779, VSP_030780; 


uniprotID: O43240
geneSymbol: KLK10
pdb: 5LPE;5LPF;
name: Kallikrein-10 (EC 3.4.21.-) (Normal epithelial cell-specific 1) (Protease serine-like 1)
length: 276
go: ENSG00000129451;
snps: rs3745535 rs2075690
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular region [GO:0005576]; secretory granule [GO:0030141]; serine-type endopeptidase activity [GO:0004252]; serine-type peptidase activity [GO:0008236]; cell cycle [GO:0007049]


uniprotID: Q12918
geneSymbol: KLRB1
reactome: R-HSA-198933;
pdb: 5MGR;5MGS;5MGT;
length: 225
go: ENSG00000111796;
snps: rs1135816
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
name:
Killer cell lectin-like receptor subfamily B member 1 (C-type lectin domain family 5 member B) (HNKR-P1a) (NKR-P1A) (Natural killer cell surface protein P1A) (CD antigen CD161)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; carbohydrate binding [GO:0030246]; transmembrane signaling receptor activity [GO:0004888]; cell surface receptor signaling pathway [GO:0007166]; regulation of immune response [GO:0050776]


uniprotID: Q9Y4C1
geneSymbol: KDM3A
reactome: R-HSA-3214842;
length: 1321
go: ENSG00000115548;
snps: rs13424350 rs2030259 rs34605051 rs11677451
name:
Lysine-specific demethylase 3A (EC 1.14.11.-) (JmjC domain-containing histone demethylation protein 2A) (Jumonji domain-containing protein 1A)

sequence:

opentargets:
chromatin [GO:0000785]; cytoplasm [GO:0005737]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; androgen receptor binding [GO:0050681]; chromatin DNA binding [GO:0031490]; dioxygenase activity [GO:0051213]; DNA-binding transcription factor activity [GO:0003700]; histone demethylase activity [GO:0032452]; histone demethylase activity (H3-K9 specific) [GO:0032454]; iron ion binding [GO:0005506]; RNA polymerase II core promoter sequence-specific DNA binding [GO:0000979]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; androgen receptor signaling pathway [GO:0030521]; cellular response to leukemia inhibitory factor [GO:1990830]; formaldehyde biosynthetic process [GO:0046293]; histone H3-K9 demethylation [GO:0033169]; histone H3-K9 dimethylation [GO:0036123]; hormone-mediated signaling pathway [GO:0009755]; negative regulation of histone H3-K9 methylation [GO:0051573]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of stem cell differentiation [GO:2000736]; regulation of stem cell population maintenance [GO:2000036]; spermatid nucleus elongation [GO:0007290]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}. Note=Nuclear in round spermatids. When spermatids start to elongate, localizes to the cytoplasm where it forms distinct foci which disappear in mature spermatozoa (By similarity). {ECO:0000250}.


uniprotID: Q14145
geneSymbol: KEAP1
reactome: R-HSA-5689880;R-HSA-8951664;R-HSA-983168;
name: Kelch-like ECH-associated protein 1 (Cytosolic inhibitor of Nrf2) (INrf2) (Kelch-like protein 19)
length: 624
go: ENSG00000079999;
drug: DB08908;
snps: rs1048289 rs777308626 rs1397945617
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Shuttles between cytoplasm and nucleus.
pdb:
1U6D;1ZGK;2FLU;3VNG;3VNH;3ZGC;3ZGD;4CXI;4CXJ;4CXT;4IFJ;4IFL;4IFN;4IN4;4IQK;4L7B;4L7C;4L7D;4N1B;4XMB;5DAD;5DAF;5F72;5GIT;5NLB;5WFL;5WFV;5WG1;5WHL;5WHO;5WIY;5X54;6FMP;6FMQ;

sequence:

opentargets:
actin filament [GO:0005884]; Cul3-RING ubiquitin ligase complex [GO:0031463]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; microtubule organizing center [GO:0005815]; midbody [GO:0030496]; nucleoplasm [GO:0005654]; disordered domain specific binding [GO:0097718]; protein homodimerization activity [GO:0042803]; transcription factor binding [GO:0008134]; cellular response to interleukin-4 [GO:0071353]; cytoplasmic sequestering of transcription factor [GO:0042994]; in utero embryonic development [GO:0001701]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; post-translational protein modification [GO:0043687]; proteasomal ubiquitin-independent protein catabolic process [GO:0010499]; protein deubiquitination [GO:0016579]; protein ubiquitination [GO:0016567]; regulation of epidermal cell differentiation [GO:0045604]


uniprotID: Q8IU85
geneSymbol: CAMK1D
pdb: 2JC6;
length: 385
go: ENSG00000183049;
drug: DB08454;
snps: rs34194224
name:
Calcium/calmodulin-dependent protein kinase type 1D (EC 2.7.11.17) (CaM kinase I delta) (CaM kinase ID) (CaM-KI delta) (CaMKI delta) (CaMKID) (CaMKI-like protein kinase) (CKLiK)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; calmodulin-dependent protein kinase activity [GO:0004683]; inflammatory response [GO:0006954]; negative regulation of apoptotic process [GO:0043066]; positive regulation of apoptotic process [GO:0043065]; positive regulation of CREB transcription factor activity [GO:0032793]; positive regulation of neuron projection development [GO:0010976]; positive regulation of neutrophil chemotaxis [GO:0090023]; positive regulation of phagocytosis [GO:0050766]; positive regulation of respiratory burst [GO:0060267]; regulation of dendrite development [GO:0050773]; regulation of granulocyte chemotaxis [GO:0071622]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IU85-1; Sequence=Displayed; Name=2; IsoId=Q8IU85-2; Sequence=VSP_012135; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}. Nucleus {ECO:0000305}. Note=Predominantly cytoplasmic. Nuclear localization increases upon activation by KCl treatment in hippocampal neurons.


uniprotID: Q96NX5
geneSymbol: CAMK1G
pdb: 2JAM;
length: 476
go: ENSG00000008118;
snps: rs35561962 rs11119315 rs1228276529
name:
Calcium/calmodulin-dependent protein kinase type 1G (EC 2.7.11.17) (CaM kinase I gamma) (CaM kinase IG) (CaM-KI gamma) (CaMKI gamma) (CaMKIG) (CaMK-like CREB kinase III) (CLICK III)

sequence:

opentargets:
calcium- and calmodulin-dependent protein kinase complex [GO:0005954]; Golgi membrane [GO:0000139]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; calmodulin-dependent protein kinase activity [GO:0004683]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96NX5-1; Sequence=Displayed; Name=2; IsoId=Q96NX5-2; Sequence=VSP_012138; 

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


uniprotID: O75525
geneSymbol: KHDRBS3
reactome: R-HSA-8849468;
pdb: 5EL3;5ELR;5ELS;5ELT;5EMO;
length: 346
go: ENSG00000131773;
name:
KH domain-containing, RNA-binding, signal transduction-associated protein 3 (RNA-binding protein T-Star) (Sam68-like mammalian protein 2) (SLM-2) (Sam68-like phosphotyrosine protein)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; identical protein binding [GO:0042802]; protein domain specific binding [GO:0019904]; RNA binding [GO:0003723]; SH3 domain binding [GO:0017124]; mRNA processing [GO:0006397]; protein complex oligomerization [GO:0051259]; regulation of mRNA splicing, via spliceosome [GO:0048024]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=SALP-alpha; IsoId=O75525-1; Sequence=Displayed; Name=2; Synonyms=SALP-beta; IsoId=O75525-2; Sequence=VSP_017905, VSP_017906; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10332027, ECO:0000269|PubMed:15901763}. Note=Localized in a compartment adjacent to the nucleolus, but distinct from the peri-nucleolar one.


uniprotID: Q5JUK3
geneSymbol: KCNT1
name: Potassium channel subfamily T member 1 (KCa4.1)
length: 1230
go: ENSG00000107147;
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; intracellular sodium activated potassium channel activity [GO:0005228]; outward rectifier potassium channel activity [GO:0015271]; regulation of membrane potential [GO:0042391]

snps:
rs587777264 rs397515407 rs397515402 rs397515404 rs886041691 rs370521183 rs397515406 rs797044544 rs397515405 rs397515403 rs1057519544 rs758311066 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q5JUK3-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q5JUK3-2; Sequence=VSP_015470, VSP_015471; Note=No experimental confirmation available.; Name=3; IsoId=Q5JUK3-3; Sequence=VSP_015470, VSP_015471, VSP_044476; Note=No experimental confirmation available.; Name=4; IsoId=Q5JUK3-4; Sequence=VSP_055700, VSP_055701, VSP_015471; Note=No experimental confirmation available.; 


uniprotID: Q9H0B6
geneSymbol: KLC2
reactome: R-HSA-2132295;R-HSA-5625970;R-HSA-6811434;R-HSA-983189;
pdb: 3CEQ;3EDT;
name: Kinesin light chain 2 (KLC 2)
length: 622
go: ENSG00000174996;
snps: rs2276036
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305}.
sequence:

opentargets:
cytosol [GO:0005829]; kinesin complex [GO:0005871]; kinesin I complex [GO:0016938]; membrane [GO:0016020]; microtubule [GO:0005874]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; cadherin binding [GO:0045296]; kinesin binding [GO:0019894]; microtubule motor activity [GO:0003777]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; microtubule-based movement [GO:0007018]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H0B6-1; Sequence=Displayed; Name=2; IsoId=Q9H0B6-2; Sequence=VSP_043486; Note=No experimental confirmation available.; 


uniprotID: A6PVL3
geneSymbol: KNCN
name: Kinocilin
length: 124
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:
MDIPISSRDFRGLQLACVALGLVAGSIIIGISVSKAAAAMGGVFIGAAVLGLLILAYPFLKARFNLDHILPTIGSLRIHPHPGADHGEGRSSTNGNKEGARSSLSTVSRTLEKLKPGTRGAEEC

opentargets:
apical part of cell [GO:0045177]; apical plasma membrane [GO:0016324]; ciliary basal body [GO:0036064]; cuticular plate [GO:0032437]; cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; kinocilium [GO:0060091]; neuronal cell body [GO:0043025]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A6PVL3-1; Sequence=Displayed; Name=2; IsoId=A6PVL3-2; Sequence=VSP_040405; 


uniprotID: Q8WZ60
geneSymbol: KLHL6
name: Kelch-like protein 6
length: 621
go: ENSG00000172578;
snps: rs35354575
sequence:

opentargets:
B cell receptor signaling pathway [GO:0050853]; germinal center formation [GO:0002467]; response to bacterium [GO:0009617]


uniprotID: Q8TBQ9
geneSymbol: TMEM167A
name: Protein kish-A (Transmembrane protein 167) (Transmembrane protein 167A)
sequence: MSAIFNFQSLLTVILLLICTCAYIRSLAPSLLDRNKTGLLGIFWKCARIGERKSPYVAVCCIVMAFSILFIQ
length: 72
go: ENSG00000174695;
opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; intracellular transport [GO:0046907]; protein secretion [GO:0009306]

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:19942856}; Single-pass type I membrane protein {ECO:0000269|PubMed:19942856}.


uniprotID: Q6L8H1
geneSymbol: KRTAP5-4
reactome: R-HSA-6805567;
length: 288
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
name:
Keratin-associated protein 5-4 (Keratin-associated protein 5.4) (Ultrahigh sulfur keratin-associated protein 5.4)

sequence:


uniprotID: Q6TDP4
geneSymbol: KLHL17
name: Kelch-like protein 17 (Actinfilin)
length: 642
go: ENSG00000187961;
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cell junction [GO:0030054]; dendrite cytoplasm [GO:0032839]; extracellular space [GO:0005615]; neuronal cell body [GO:0043025]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; actin filament binding [GO:0051015]; POZ domain binding [GO:0031208]; protein-containing complex scaffold activity [GO:0032947]; actin cytoskeleton organization [GO:0030036]; brain development [GO:0007420]; protein ubiquitination [GO:0016567]

location:
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Note=Postsynaptic density. {ECO:0000250}.


uniprotID: Q3LI67
geneSymbol: KRTAP6-3
reactome: R-HSA-6805567;
name: Keratin-associated protein 6-3
length: 103
opentargets: cytosol [GO:0005829]; intermediate filament [GO:0005882]; keratinization [GO:0031424]
snps: rs9305426 rs9305426
sequence:
MCGSYYRNYNGGHGYGCCGYGGLGCGYGGCGYGCCGYGGLGFGYGGLDCGYGGLGCGYGSFCGCGYRGLDCGYGCGYGYVSHSFCGCGYRCGSGYGSSFGYYY


uniprotID: P43405
geneSymbol: SYK
name: Tyrosine-protein kinase SYK (EC 2.7.10.2) (Spleen tyrosine kinase) (p72-Syk)
length: 635
go: ENSG00000165025;
drug: DB08846;DB02010;
snps: rs16906862
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}. Cytoplasm, cytosol {ECO:0000305}.
reactome:
R-HSA-114604;R-HSA-2029481;R-HSA-2029482;R-HSA-2029485;R-HSA-2424491;R-HSA-2454202;R-HSA-2730905;R-HSA-2871796;R-HSA-2871809;R-HSA-354192;R-HSA-5607764;R-HSA-5621480;R-HSA-9020558;R-HSA-912631;R-HSA-983695;

pdb:
1A81;1CSY;1CSZ;1XBA;1XBB;1XBC;3BUW;3EMG;3FQE;3FQH;3FQS;3SRV;3TUB;3TUC;3TUD;3VF8;3VF9;4DFL;4DFN;4F4P;4FL1;4FL2;4FL3;4FYN;4FYO;4FZ6;4FZ7;4GFG;4I0R;4I0S;4I0T;4PUZ;4PV0;4PX6;4RSS;4RX7;4RX8;4RX9;4WNM;4XG2;4XG3;4XG4;4XG6;4XG7;4XG8;4XG9;4YJO;4YJP;4YJQ;4YJR;4YJS;4YJT;4YJU;4YJV;5C26;5C27;5CXH;5CXZ;5CY3;5GHV;5LMA;5LMB;5T68;5TIU;5TR6;5TT7;5Y5T;5Y5U;

sequence:

opentargets:
B cell receptor complex [GO:0019815]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; early phagosome [GO:0032009]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; T cell receptor complex [GO:0042101]; ATP binding [GO:0005524]; integrin binding [GO:0005178]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; phosphatase binding [GO:0019902]; phosphotyrosine residue binding [GO:0001784]; protein kinase activity [GO:0004672]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activity [GO:0004674]; protein tyrosine kinase activity [GO:0004713]; SH2 domain binding [GO:0042169]; Toll-like receptor binding [GO:0035325]; activation of JUN kinase activity [GO:0007257]; adaptive immune response [GO:0002250]; angiogenesis [GO:0001525]; animal organ morphogenesis [GO:0009887]; B cell receptor signaling pathway [GO:0050853]; beta selection [GO:0043366]; blood vessel morphogenesis [GO:0048514]; cell proliferation [GO:0008283]; cellular response to low-density lipoprotein particle stimulus [GO:0071404]; cellular response to molecule of fungal origin [GO:0071226]; collagen-activated tyrosine kinase receptor signaling pathway [GO:0038063]; defense response to bacterium [GO:0042742]; Fc-epsilon receptor signaling pathway [GO:0038095]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; innate immune response [GO:0045087]; integrin-mediated signaling pathway [GO:0007229]; interleukin-2-mediated signaling pathway [GO:0038110]; interleukin-3-mediated signaling pathway [GO:0038156]; leukocyte activation involved in immune response [GO:0002366]; leukocyte cell-cell adhesion [GO:0007159]; leukotriene biosynthetic process [GO:0019370]; lymph vessel development [GO:0001945]; macrophage activation involved in immune response [GO:0002281]; neutrophil activation involved in immune response [GO:0002283]; neutrophil chemotaxis [GO:0030593]; peptidyl-serine phosphorylation [GO:0018105]; platelet activation [GO:0030168]; positive regulation of alpha-beta T cell differentiation [GO:0046638]; positive regulation of alpha-beta T cell proliferation [GO:0046641]; positive regulation of B cell differentiation [GO:0045579]; positive regulation of bone resorption [GO:0045780]; positive regulation of calcium-mediated signaling [GO:0050850]; positive regulation of cell adhesion mediated by integrin [GO:0033630]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of cytokine secretion [GO:0050715]; positive regulation of gamma-delta T cell differentiation [GO:0045588]; positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process [GO:0045425]; positive regulation of interleukin-3 biosynthetic process [GO:0045401]; positive regulation of interleukin-4 production [GO:0032753]; positive regulation of mast cell degranulation [GO:0043306]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of receptor internalization [GO:0002092]; positive regulation of type I interferon production [GO:0032481]; protein autophosphorylation [GO:0046777]; protein import into nucleus [GO:0006606]; protein phosphorylation [GO:0006468]; receptor internalization [GO:0031623]; regulation of arachidonic acid secretion [GO:0090237]; regulation of DNA-binding transcription factor activity [GO:0051090]; regulation of ERK1 and ERK2 cascade [GO:0070372]; regulation of neutrophil degranulation [GO:0043313]; regulation of phagocytosis [GO:0050764]; regulation of platelet activation [GO:0010543]; regulation of platelet aggregation [GO:0090330]; regulation of superoxide anion generation [GO:0032928]; regulation of tumor necrosis factor-mediated signaling pathway [GO:0010803]; serotonin secretion by platelet [GO:0002554]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=P43405-1; Sequence=Displayed; Name=Short; IsoId=P43405-2; Sequence=VSP_005010; 


uniprotID: P30085
geneSymbol: CMPK1
reactome: R-HSA-499943;
pdb: 1TEV;
length: 196
drug: DB03403;DB00441;DB00709;DB03664;DB04444;DB03435;
name:
UMP-CMP kinase (EC 2.7.4.14) (Deoxycytidylate kinase) (CK) (dCMP kinase) (Nucleoside-diphosphate kinase) (EC 2.7.4.6) (Uridine monophosphate/cytidine monophosphate kinase) (UMP/CMP kinase) (UMP/CMPK)

sequence:
MKPLVVFVLGGPGAGKGTQCARIVEKYGYTHLSAGELLRDERKNPDSQYGELIEKYIKEGKIVPVEITISLLKREMDQTMAANAQKNKFLIDGFPRNQDNLQGWNKTMDGKADVSFVLFFDCNNEICIERCLERGKSSGRSDDNRESLEKRIQTYLQSTKPIIDLYEEMGKVKKIDASKSVDEVFDEVVQIFDKEG

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleolus [GO:0005730]; nucleus [GO:0005634]; ATP binding [GO:0005524]; cytidylate kinase activity [GO:0004127]; nucleoside diphosphate kinase activity [GO:0004550]; nucleoside monophosphate kinase activity [GO:0050145]; uridine kinase activity [GO:0004849]; uridylate kinase activity [GO:0009041]; 'de novo' pyrimidine nucleobase biosynthetic process [GO:0006207]; nucleobase-containing small molecule interconversion [GO:0015949]; nucleoside diphosphate phosphorylation [GO:0006165]; nucleoside triphosphate biosynthetic process [GO:0009142]; pyrimidine ribonucleotide biosynthetic process [GO:0009220]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P30085-1; Sequence=Displayed; Name=2; IsoId=P30085-2; Sequence=VSP_046683; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|HAMAP-Rule:MF_03172, ECO:0000269|PubMed:10462544, ECO:0000269|PubMed:11912132}. Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03172, ECO:0000269|PubMed:10462544, ECO:0000269|PubMed:11912132}. Note=Predominantly cytoplasmic, less than 15% nuclear. {ECO:0000269|PubMed:11912132}.


uniprotID: Q8NC54
geneSymbol: KCT2
name: Keratinocyte-associated transmembrane protein 2
length: 265
go: ENSG00000113583;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:


uniprotID: P33176
geneSymbol: KIF5B
reactome: R-HSA-2132295;R-HSA-264876;R-HSA-5625970;R-HSA-6811434;R-HSA-983189;
pdb: 1BG2;1MKJ;2P4N;3J8X;3J8Y;4HNA;4LNU;5LT0;5LT1;5LT2;5LT3;5LT4;
name: Kinesin-1 heavy chain (Conventional kinesin heavy chain) (Ubiquitous kinesin heavy chain) (UKHC)
length: 963
go: ENSG00000170759;
sequence:

opentargets:
axon cytoplasm [GO:1904115]; axonal growth cone [GO:0044295]; ciliary rootlet [GO:0035253]; cytosol [GO:0005829]; kinesin complex [GO:0005871]; membrane [GO:0016020]; microtubule [GO:0005874]; microtubule organizing center [GO:0005815]; perinuclear region of cytoplasm [GO:0048471]; phagocytic vesicle [GO:0045335]; vesicle [GO:0031982]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; cadherin binding [GO:0045296]; identical protein binding [GO:0042802]; JUN kinase binding [GO:0008432]; microtubule binding [GO:0008017]; microtubule lateral binding [GO:0099609]; microtubule motor activity [GO:0003777]; anterograde axonal protein transport [GO:0099641]; anterograde neuronal dense core vesicle transport [GO:1990048]; cellular response to interferon-gamma [GO:0071346]; centrosome localization [GO:0051642]; cytoplasm organization [GO:0007028]; hippocampus development [GO:0021766]; microtubule-based movement [GO:0007018]; plus-end-directed vesicle transport along microtubule [GO:0072383]; positive regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0035774]; positive regulation of intracellular protein transport [GO:0090316]; positive regulation of potassium ion transport [GO:0043268]; positive regulation of protein localization to plasma membrane [GO:1903078]; positive regulation of synaptic transmission, GABAergic [GO:0032230]; positive regulation of vesicle fusion [GO:0031340]; positive regulation of voltage-gated sodium channel activity [GO:1905152]; regulation of membrane potential [GO:0042391]; retrograde neuronal dense core vesicle transport [GO:1990049]; stress granule disassembly [GO:0035617]; vesicle transport along microtubule [GO:0047496]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q2PQA9}. Note=Uniformly distributed between soma and neurites in hippocampal neurons. {ECO:0000250|UniProtKB:Q2PQA9}.


uniprotID: Q9BQ31
geneSymbol: KCNS3
reactome: R-HSA-1296072;R-HSA-381676;
length: 491
go: ENSG00000170745;
snps: rs17856097 rs4832524
name:
Potassium voltage-gated channel subfamily S member 3 (Delayed-rectifier K(+) channel alpha subunit 3) (Voltage-gated potassium channel subunit Kv9.3)

sequence:

opentargets:
cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; 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 regulator activity [GO:0015459]; voltage-gated potassium channel activity [GO:0005249]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]; protein homooligomerization [GO:0051260]; regulation of insulin secretion [GO:0050796]; regulation of ion transmembrane transport [GO:0034765]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10484328}; Multi-pass membrane protein {ECO:0000305}. Note=May not reach the plasma membrane but remain in an intracellular compartment in the absence of KCNB1 (PubMed:10484328). {ECO:0000269|PubMed:10484328}.


uniprotID: O15037
geneSymbol: KHNYN
pdb: 2N5M;2N7K;
name: Protein KHNYN (KH and NYN domain-containing protein)
length: 678
go: ENSG00000100441;
opentargets: RNA binding [GO:0003723]
snps: rs3742520 rs7151995
sequence:


uniprotID: Q9NXS3
geneSymbol: KLHL28
name: Kelch-like protein 28 (BTB/POZ domain-containing protein 5)
length: 571
go: ENSG00000179454;
snps: rs35728857
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NXS3-1; Sequence=Displayed; Name=2; IsoId=Q9NXS3-2; Sequence=VSP_009800; Note=No experimental confirmation available.; 


uniprotID: Q9NSK0
geneSymbol: KLC4
reactome: R-HSA-2132295;R-HSA-5625970;R-HSA-6811434;R-HSA-983189;
name: Kinesin light chain 4 (KLC 4) (Kinesin-like protein 8)
length: 619
go: ENSG00000137171;
snps: rs11558979
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; kinesin complex [GO:0005871]; microtubule [GO:0005874]; microtubule motor activity [GO:0003777]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9NSK0-1; Sequence=Displayed; Name=2; IsoId=Q9NSK0-2; Sequence=VSP_037875, VSP_037876; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; Name=3; IsoId=Q9NSK0-3; Sequence=VSP_038083; Name=4; IsoId=Q9NSK0-4; Sequence=VSP_043324, VSP_043325; Note=No experimental confirmation available.; Name=5; IsoId=Q9NSK0-5; Sequence=VSP_057231; Note=No experimental confirmation available.; 


uniprotID: Q2WGJ6
geneSymbol: KLHL38
name: Kelch-like protein 38
length: 581
go: ENSG00000175946;
snps: rs16898693 rs11784192 rs11780509 rs11784175 rs16898691 rs11779866
sequence:


uniprotID: Q9P2J3
geneSymbol: KLHL9
reactome: R-HSA-8951664;R-HSA-983168;
name: Kelch-like protein 9
length: 617
go: ENSG00000198642;
sequence:

opentargets:
Cul3-RING ubiquitin ligase complex [GO:0031463]; cytosol [GO:0005829]; midbody [GO:0030496]; cell cycle [GO:0007049]; cell division [GO:0051301]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]; regulation of cytokinesis [GO:0032465]


uniprotID: P11801
geneSymbol: PSKH1
name: Serine/threonine-protein kinase H1 (EC 2.7.11.1) (Protein serine kinase H1) (PSK-H1)
length: 424
go: ENSG00000159792;
snps: rs35552721
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; microtubule organizing center [GO:0005815]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; protein serine/threonine kinase activity [GO:0004674]; determination of left/right symmetry [GO:0007368]; heart development [GO:0007507]

location:
SUBCELLULAR LOCATION: Golgi apparatus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Nucleus speckle. Endoplasmic reticulum membrane; Lipid-anchor. Cell membrane; Lipid-anchor. Cytoplasm. Note=Localized in the brefeldin A-sensitive Golgi compartment, at centrosomes, in the nucleus with a somewhat speckle-like presence, membrane-associated to the endoplasmic reticulum (ER) and the plasma membrane (PM), and more diffusely in the cytoplasm. Found to concentrate in splicing factor compartments (SFCs) within the nucleus of interphase cells. The acylation-negative form may be only cytoplasmic and nuclear. Acylation seems to allow the sequestering to the intracellular membranes. Myristoylation may mediate targeting to the intracellular non-Golgi membranes and palmitoylation may mediate the targeting to the Golgi membranes. Dual acylation is required to stabilize the interaction with Golgi membranes.


uniprotID: P41743
geneSymbol: PRKCI
reactome: R-HSA-1912408;R-HSA-209543;R-HSA-420029;
pdb: 1VD2;1WMH;1ZRZ;3A8W;3A8X;3ZH8;5LI1;5LI9;5LIH;
length: 596
go: ENSG00000163558;
drug: DB03777;DB00675;
snps: rs56154494
name:
Protein kinase C iota type (EC 2.7.11.13) (Atypical protein kinase C-lambda/iota) (PRKC-lambda/iota) (aPKC-lambda/iota) (nPKC-iota)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; bicellular tight junction [GO:0005923]; cell leading edge [GO:0031252]; cytosol [GO:0005829]; endosome [GO:0005768]; extracellular exosome [GO:0070062]; glutamatergic synapse [GO:0098978]; Golgi membrane [GO:0000139]; intercellular bridge [GO:0045171]; microtubule cytoskeleton [GO:0015630]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; Schaffer collateral - CA1 synapse [GO:0098685]; Schmidt-Lanterman incisure [GO:0043220]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; phospholipid binding [GO:0005543]; protein domain specific binding [GO:0019904]; protein kinase activity [GO:0004672]; protein kinase C activity [GO:0004697]; protein serine/threonine kinase activity [GO:0004674]; actin filament organization [GO:0007015]; bicellular tight junction assembly [GO:0070830]; cell migration [GO:0016477]; cell-cell junction organization [GO:0045216]; cellular response to insulin stimulus [GO:0032869]; cytoskeleton organization [GO:0007010]; establishment of apical/basal cell polarity [GO:0035089]; establishment or maintenance of epithelial cell apical/basal polarity [GO:0045197]; eye photoreceptor cell development [GO:0042462]; Golgi vesicle budding [GO:0048194]; intracellular signal transduction [GO:0035556]; membrane organization [GO:0061024]; negative regulation of apoptotic process [GO:0043066]; negative regulation of glial cell apoptotic process [GO:0034351]; negative regulation of neuron apoptotic process [GO:0043524]; peptidyl-serine phosphorylation [GO:0018105]; positive regulation of endothelial cell apoptotic process [GO:2000353]; positive regulation of glial cell proliferation [GO:0060252]; positive regulation of glucose import [GO:0046326]; positive regulation of neuron projection development [GO:0010976]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of Notch signaling pathway [GO:0045747]; positive regulation of protein localization to plasma membrane [GO:1903078]; protein phosphorylation [GO:0006468]; protein targeting to membrane [GO:0006612]; regulation of postsynaptic membrane neurotransmitter receptor levels [GO:0099072]; response to interleukin-1 [GO:0070555]; secretion [GO:0046903]; vesicle-mediated transport [GO:0016192]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11891849, ECO:0000269|PubMed:15695176, ECO:0000269|PubMed:9566925}. Membrane {ECO:0000269|PubMed:16452474}. Endosome {ECO:0000269|PubMed:9566925}. Nucleus {ECO:0000269|PubMed:11891849, ECO:0000269|PubMed:15695176}. Note=Transported into the endosome through interaction with SQSTM1/p62. After phosphorylation by SRC, transported into the nucleus through interaction with KPNB1. Colocalizes with CDK7 in the cytoplasm and nucleus. Transported to vesicular tubular clusters (VTCs) through interaction with RAB2A. {ECO:0000269|PubMed:15695176, ECO:0000269|PubMed:9566925}.


uniprotID: O00522
geneSymbol: KRIT1
pdb: 3U7D;4DX8;4DXA;4HDO;4HDQ;4JIF;4TKN;5D68;
length: 736
go: ENSG00000001631;
name:
Krev interaction trapped protein 1 (Krev interaction trapped 1) (Cerebral cavernous malformations 1 protein)

sequence:

opentargets:
cell-cell junction [GO:0005911]; cytoplasm [GO:0005737]; extracellular space [GO:0005615]; microtubule [GO:0005874]; plasma membrane [GO:0005886]; GTPase regulator activity [GO:0030695]; microtubule binding [GO:0008017]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; protein-containing complex binding [GO:0044877]; angiogenesis [GO:0001525]; cell redox homeostasis [GO:0045454]; negative regulation of angiogenesis [GO:0016525]; negative regulation of endothelial cell apoptotic process [GO:2000352]; negative regulation of endothelial cell migration [GO:0010596]; negative regulation of endothelial cell proliferation [GO:0001937]; regulation of establishment of cell polarity [GO:2000114]; small GTPase mediated signal transduction [GO:0007264]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O00522-1; Sequence=Displayed; Name=2; IsoId=O00522-2; Sequence=VSP_015800; Name=3; IsoId=O00522-3; Sequence=VSP_043327; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein. Cell junction. Note=KRIT1 and CDH5 reciprocally regulate their localization to endothelial cell-cell junctions. Association with RAP1 relocalizes KRIT1 from microtubules to cell junction membranes. Translocates from the cytoplasm along microtubules to the cell membrane in a ITGB1BP1-dependent manner.


uniprotID: Q9UMN6
geneSymbol: KMT2B
reactome: R-HSA-3214841;R-HSA-8936459;
pdb: 3UVM;4ERZ;4PZI;
length: 2715
go: ENSG00000272333;
snps: rs60207923 rs2242519 rs179686 rs34014681 rs16970649 rs231591 rs36062432 rs1057519285
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
Histone-lysine N-methyltransferase 2B (Lysine N-methyltransferase 2B) (EC 2.1.1.43) (Myeloid/lymphoid or mixed-lineage leukemia protein 4) (Trithorax homolog 2) (WW domain-binding protein 7) (WBP-7)

sequence:

opentargets:
histone methyltransferase complex [GO:0035097]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone methyltransferase activity (H3-K4 specific) [GO:0042800]; histone-lysine N-methyltransferase activity [GO:0018024]; zinc ion binding [GO:0008270]; chromatin-mediated maintenance of transcription [GO:0048096]; gene silencing [GO:0016458]; histone H3-K4 methylation [GO:0051568]; histone H3-K4 trimethylation [GO:0080182]; memory [GO:0007613]; oocyte differentiation [GO:0009994]; ovarian follicle development [GO:0001541]; ovulation [GO:0030728]; regulation of histone H3-K4 methylation [GO:0051569]; regulation of megakaryocyte differentiation [GO:0045652]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Long; IsoId=Q9UMN6-1; Sequence=Displayed; Name=2; Synonyms=Truncated; IsoId=Q9UMN6-2; Sequence=VSP_006668, VSP_006669; 


uniprotID: Q9UJP4
geneSymbol: KLHL21
reactome: R-HSA-8951664;R-HSA-983168;
name: Kelch-like protein 21
length: 597
go: ENSG00000162413;
sequence:

opentargets:
Cul3-RING ubiquitin ligase complex [GO:0031463]; cytosol [GO:0005829]; polar microtubule [GO:0005827]; cell cycle [GO:0007049]; cell division [GO:0051301]; chromosome passenger complex localization to spindle midzone [GO:0035853]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]; regulation of cytokinesis [GO:0032465]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UJP4-1; Sequence=Displayed; Name=2; IsoId=Q9UJP4-2; Sequence=VSP_032563, VSP_032564; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:19995937}. Note=Localizes to the spindle midzone and targets CUL3 to this region.


uniprotID: O75164
geneSymbol: KDM4A
reactome: R-HSA-3214842;R-HSA-5693565;
length: 1064
go: ENSG00000066135;
snps: rs586339 rs12759032
pdb:
2GF7;2GFA;2GP3;2GP5;2OQ6;2OQ7;2OS2;2OT7;2OX0;2P5B;2PXJ;2Q8C;2Q8D;2Q8E;2QQR;2QQS;2VD7;2WWJ;2YBK;2YBP;2YBS;3NJY;3PDQ;3RVH;3U4S;4AI9;4BIS;4GD4;4URA;4V2V;4V2W;5A7N;5A7O;5A7P;5A7Q;5A7S;5A7W;5A80;5ANQ;5D6W;5D6X;5D6Y;5F2S;5F2W;5F32;5F37;5F39;5F3C;5F3E;5F3G;5F3I;5F5I;5FPV;5FWE;5FY8;5FYC;5FYH;5FYI;5LY1;5LY2;5TVR;5TVS;5VAR;5VGI;5VMP;6CG1;6CG2;6H8P;

name:
Lysine-specific demethylase 4A (EC 1.14.11.-) (JmjC domain-containing histone demethylation protein 3A) (Jumonji domain-containing protein 2A)

sequence:

opentargets:
cytosol [GO:0005829]; fibrillar center [GO:0001650]; histone methyltransferase complex [GO:0035097]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; pericentric heterochromatin [GO:0005721]; chromatin binding [GO:0003682]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; histone demethylase activity [GO:0032452]; histone demethylase activity (H3-K36 specific) [GO:0051864]; histone demethylase activity (H3-K9 specific) [GO:0032454]; methylated histone binding [GO:0035064]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; ubiquitin protein ligase binding [GO:0031625]; zinc ion binding [GO:0008270]; cardiac muscle hypertrophy in response to stress [GO:0014898]; histone demethylation [GO:0016577]; histone H3-K36 demethylation [GO:0070544]; histone H3-K9 demethylation [GO:0033169]; negative regulation of astrocyte differentiation [GO:0048712]; negative regulation of autophagy [GO:0010507]; negative regulation of cell death [GO:0060548]; negative regulation of gene expression [GO:0010629]; negative regulation of histone H3-K9 trimethylation [GO:1900113]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of gene expression [GO:0010628]; positive regulation of neuron differentiation [GO:0045666]; response to nutrient levels [GO:0031667]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75164-1; Sequence=Displayed; Name=2; Synonyms=deltaN-JMJD2A; IsoId=O75164-2; Sequence=VSP_044239; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00537, ECO:0000269|PubMed:15927959, ECO:0000269|PubMed:16024779}.


uniprotID: Q9UQM7
geneSymbol: CAMK2A
pdb: 2VZ6;3SOA;5IG3;
length: 478
go: ENSG00000070808;
drug: DB04119;
snps: rs926027867 rs864309606
reactome:
R-HSA-3371571;R-HSA-399719;R-HSA-4086398;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 alpha (CaM kinase II subunit alpha) (CaMK-II subunit alpha) (EC 2.7.11.17)

sequence:

opentargets:
calcium- and calmodulin-dependent protein kinase complex [GO:0005954]; cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; endocytic vesicle membrane [GO:0030666]; mitochondrion [GO:0005739]; neuron projection [GO:0043005]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; Schaffer collateral - CA1 synapse [GO:0098685]; ATP binding [GO:0005524]; calcium-dependent protein serine/threonine kinase activity [GO:0009931]; calmodulin binding [GO:0005516]; calmodulin-dependent protein kinase activity [GO:0004683]; glutamate receptor binding [GO:0035254]; identical protein binding [GO:0042802]; kinase activity [GO:0016301]; metal ion binding [GO:0046872]; protein homodimerization activity [GO:0042803]; protein serine/threonine kinase activity [GO:0004674]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; angiotensin-activated signaling pathway [GO:0038166]; calcium ion transport [GO:0006816]; dendrite morphogenesis [GO:0048813]; dendritic spine development [GO:0060996]; G1/S transition of mitotic cell cycle [GO:0000082]; interferon-gamma-mediated signaling pathway [GO:0060333]; MAPK cascade [GO:0000165]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine autophosphorylation [GO:1990443]; positive regulation of calcium ion transport [GO:0051928]; positive regulation of cardiac muscle cell apoptotic process [GO:0010666]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of mitochondrial membrane permeability involved in apoptotic process [GO:1902108]; regulation of neuron migration [GO:2001222]; regulation of neuronal synaptic plasticity [GO:0048168]; regulation of neurotransmitter secretion [GO:0046928]; regulation of synaptic vesicle docking [GO:0099148]; response to ischemia [GO:0002931]; Wnt signaling pathway, calcium modulating pathway [GO:0007223]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=A; IsoId=Q9UQM7-1; Sequence=Displayed; Name=B; IsoId=Q9UQM7-2; Sequence=VSP_004766; 

location:
SUBCELLULAR LOCATION: Cell junction, synapse {ECO:0000250|UniProtKB:P11275}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250|UniProtKB:P11275}. Cell projection, dendritic spine {ECO:0000269|PubMed:28130356}. Cell projection, dendrite {ECO:0000269|PubMed:28130356}. Note=Postsynaptic lipid rafts. {ECO:0000250|UniProtKB:P11275}.


uniprotID: Q13554
geneSymbol: CAMK2B
pdb: 3BHH;
length: 666
go: ENSG00000058404;
drug: DB07168;
snps: rs555460132 rs35452727
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 beta (CaM kinase II subunit beta) (CaMK-II subunit beta) (EC 2.7.11.17)

sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endocytic vesicle membrane [GO:0030666]; microtubule organizing center [GO:0005815]; neuron projection [GO:0043005]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; sarcoplasmic reticulum membrane [GO:0033017]; synapse [GO:0045202]; actin binding [GO:0003779]; ATP binding [GO:0005524]; 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]; interferon-gamma-mediated signaling pathway [GO:0060333]; MAPK cascade [GO:0000165]; positive regulation of dendritic spine morphogenesis [GO:0061003]; positive regulation of neuron projection development [GO:0010976]; positive regulation of synapse maturation [GO:0090129]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of calcium ion transport [GO:0051924]; regulation of dendritic spine development [GO:0060998]; regulation of long-term neuronal synaptic plasticity [GO:0048169]; regulation of neuron migration [GO:2001222]; regulation of skeletal muscle adaptation [GO:0014733]; regulation of synapse structural plasticity [GO:0051823]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Comment=The variable region of the CAMK2B protein is encoded by at least 7 exons (V1 to V7). Alternative splicing within this region gives rise to CAMK2B isoforms.; Name=4; IsoId=Q13554-1; Sequence=Displayed; Name=1; Synonyms=Beta; IsoId=Q13554-2; Sequence=VSP_004776; Name=2; Synonyms=Beta1, Beta'E; IsoId=Q13554-3; Sequence=VSP_004770, VSP_004771, VSP_004775, VSP_004776; Name=3; Synonyms=Beta2; IsoId=Q13554-4; Sequence=VSP_004770, VSP_004771, VSP_004774, VSP_004776; Name=5; Synonyms=Beta4, BetaE; IsoId=Q13554-5; Sequence=VSP_004770, VSP_004771, VSP_004776; Name=6; Synonyms=Beta6; IsoId=Q13554-6; Sequence=VSP_004773, VSP_004776, VSP_004777; Name=7; Synonyms=Beta7; IsoId=Q13554-7; Sequence=VSP_004770, VSP_004772; Name=8; IsoId=Q13554-8; Sequence=VSP_041219, VSP_004776; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:21529938}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250}. Sarcoplasmic reticulum membrane {ECO:0000269|PubMed:21529938}; Peripheral membrane protein {ECO:0000269|PubMed:21529938}; Cytoplasmic side {ECO:0000269|PubMed:21529938}. Cell junction, synapse {ECO:0000250|UniProtKB:P08413}. Note=In slow-twitch muscle, evenly distributed between longitudinal SR and junctional SR.


uniprotID: B2RXH2
geneSymbol: KDM4E
pdb: 2W2I;
length: 506
go: ENSG00000235268;
snps: rs12798990 rs2257265 rs10752685 rs16921260
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00537}.
name:
Lysine-specific demethylase 4E (EC 1.14.11.-) (KDM4D-like protein) (Lysine-specific demethylase 4D-like)

sequence:

opentargets:
histone methyltransferase complex [GO:0035097]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; dioxygenase activity [GO:0051213]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; histone demethylase activity [GO:0032452]; histone demethylase activity (H3-K9 specific) [GO:0032454]; metal ion binding [GO:0046872]; methylated histone binding [GO:0035064]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; histone H3-K9 demethylation [GO:0033169]


uniprotID: Q15726
geneSymbol: KISS1
reactome: R-HSA-375276;R-HSA-416476;
length: 138
go: ENSG00000170498;
snps: rs12998 rs35431622 rs4889
location: SUBCELLULAR LOCATION: Secreted.
name:
Metastasis-suppressor KiSS-1 (Kisspeptin-1) [Cleaved into: Metastin (Kisspeptin-54); Kisspeptin-14; Kisspeptin-13; Kisspeptin-10]

sequence:
MNSLVSWQLLLFLCATHFGEPLEKVASVGNSRPTGQQLESLGLLAPGEQSLPCTERKPAATARLSRRGTSLSPPPESSGSPQQPGLSAPHSRQIPAPQGAVLVQREKDLPNYNWNSFGLRFGKREAAPGNHGRSAGRG

opentargets:
apical plasma membrane [GO:0016324]; cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; kisspeptin receptor binding [GO:0031773]; cytoskeleton organization [GO:0007010]; G protein-coupled receptor signaling pathway [GO:0007186]; generation of ovulation cycle rhythm [GO:0060112]; negative regulation of cell proliferation [GO:0008285]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway [GO:0051482]; positive regulation of growth hormone secretion [GO:0060124]; positive regulation of luteinizing hormone secretion [GO:0033686]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of synaptic transmission [GO:0050806]


uniprotID: P50053
geneSymbol: KHK
reactome: R-HSA-5657562;R-HSA-70350;
pdb: 2HLZ;2HQQ;2HW1;3B3L;3NBV;3NBW;3NC2;3NC9;3NCA;3Q92;3QA2;3QAI;3RO4;5WBM;5WBO;5WBP;5WBQ;5WBR;5WBZ;
name: Ketohexokinase (EC 2.7.1.3) (Hepatic fructokinase)
length: 298
go: ENSG00000138030;
snps: rs104893643 rs104893644 rs2304681
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; ATP binding [GO:0005524]; carbohydrate kinase activity [GO:0019200]; ketohexokinase activity [GO:0004454]; fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate [GO:0061624]; fructose metabolic process [GO:0006000]; regulation of glycogen metabolic process [GO:0070873]; response to fructose [GO:0009750]; response to glucose [GO:0009749]; response to insulin [GO:0032868]; response to sucrose [GO:0009744]; response to zinc ion [GO:0010043]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=C {ECO:0000269|PubMed:9799106}; Synonyms=Central, hepatic/renal/intestinal {ECO:0000269|PubMed:9799106}; IsoId=P50053-1; Sequence=Displayed; Name=A {ECO:0000269|PubMed:9799106}; Synonyms=Peripheral {ECO:0000269|PubMed:9799106}; IsoId=P50053-2; Sequence=VSP_004669; Note=More widely distributed but with a low expression level. KM=7 mM for D-fructose (at 25 degrees Celsius). KM=036 mM for Mg-ATP (at 25 degrees Celsius). kcat is 6.9 sec(-1). {ECO:0000269|PubMed:12941785}; 


uniprotID: Q2M2Z5
geneSymbol: KIZ
name: Centrosomal protein kizuna (Polo-like kinase 1 substrate 1)
length: 673
go: ENSG00000088970;
snps: rs4815025 rs2236178
sequence:

opentargets:
cell projection [GO:0042995]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; protein kinase binding [GO:0019901]; spindle organization [GO:0007051]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q2M2Z5-1; Sequence=Displayed; Name=2; IsoId=Q2M2Z5-2; Sequence=VSP_027879, VSP_027880; Name=3; IsoId=Q2M2Z5-3; Sequence=VSP_027881; Note=No experimental confirmation available.; Name=4; IsoId=Q2M2Z5-4; Sequence=VSP_027882; Name=5; IsoId=Q2M2Z5-5; Sequence=VSP_037837, VSP_037838; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:16980960}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:24680887}. Note=Localizes to centrosomes throughout the cell cycle. After centrosome duplication, it usually remains associated only with the mother centrosome, containing the older mature centriole and particles surrounding it. During prophase, additional particles accumulate around both separating centrosomes. Does not accumulate at the microtubule minus ends, but instead localizes to the centrosomes and centrosome-surrounding area in a microtubule-independent and dependent manner, respectively. {ECO:0000269|PubMed:24680887}.


uniprotID: Q0D2K2
geneSymbol: KLHL30
name: Kelch-like protein 30
length: 578
go: ENSG00000168427;
sequence:


uniprotID: Q9BY66
geneSymbol: KDM5D
reactome: R-HSA-3214842;
pdb: 2E6R;2YQE;
length: 1539
go: ENSG00000012817;
drug: DB00126;
snps: rs1050807
name:
Lysine-specific demethylase 5D (EC 1.14.11.-) (Histocompatibility Y antigen) (H-Y) (Histone demethylase JARID1D) (Jumonji/ARID domain-containing protein 1D) (Protein SmcY)

sequence:

opentargets:
fibrillar center [GO:0001650]; histone methyltransferase complex [GO:0035097]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; androgen receptor binding [GO:0050681]; chromatin binding [GO:0003682]; dioxygenase activity [GO:0051213]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; histone demethylase activity [GO:0032452]; histone demethylase activity (H3-K4 specific) [GO:0032453]; histone demethylase activity (H3-trimethyl-K4 specific) [GO:0034647]; metal ion binding [GO:0046872]; methylated histone binding [GO:0035064]; histone H3-K4 demethylation [GO:0034720]; regulation of androgen receptor signaling pathway [GO:0060765]; T cell antigen processing and presentation [GO:0002457]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q9BY66-1; Sequence=Displayed; Name=2; IsoId=Q9BY66-2; Sequence=VSP_000317; Name=3; IsoId=Q9BY66-3; Sequence=VSP_043320; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:27185910, ECO:0000269|PubMed:27477906, ECO:0000305}.


uniprotID: Q9UBX7
geneSymbol: KLK11
length: 282
go: ENSG00000167757;
snps: rs2288892 rs3745539 rs1048328
location: SUBCELLULAR LOCATION: Isoform 1: Secreted.; SUBCELLULAR LOCATION: Isoform 2: Golgi apparatus.
name:
Kallikrein-11 (hK11) (EC 3.4.21.-) (Hippostasin) (Serine protease 20) (Trypsin-like protease) [Cleaved into: Kallikrein-11 inactive chain 1; Kallikrein-11 inactive chain 2]

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; secretory granule [GO:0030141]; serine-type endopeptidase activity [GO:0004252]; serine-type peptidase activity [GO:0008236]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=2; IsoId=Q9UBX7-2; Sequence=Displayed; Name=1; IsoId=Q9UBX7-1; Sequence=VSP_005402; Name=3; IsoId=Q9UBX7-3; Sequence=VSP_043326; Note=Localized in the prostate secretory epithelium.; Name=4; IsoId=Q9UBX7-4; Sequence=VSP_005402, VSP_043326; 


uniprotID: Q701N2
geneSymbol: KRTAP5-5
reactome: R-HSA-6805567;
length: 237
go: ENSG00000185940;
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
name:
Keratin-associated protein 5-5 (Keratin-associated protein 5-11) (Keratin-associated protein 5.11) (Keratin-associated protein 5.5) (Ultrahigh sulfur keratin-associated protein 5.5)

sequence:


uniprotID: P26371
geneSymbol: KRTAP5-9
reactome: R-HSA-6805567;
length: 169
go: ENSG00000254997;
snps: rs34213141 rs10792769
name:
Keratin-associated protein 5-9 (Keratin, cuticle, ultrahigh sulfur 1) (Keratin, ultra high-sulfur matrix protein A) (Keratin-associated protein 5.9) (UHS keratin A) (UHS KerA) (Ultrahigh sulfur keratin-associated protein 5.9)

sequence:
MGCCGCSGGCGSSCGGCDSSCGSCGSGCRGCGPSCCAPVYCCKPVCCCVPACSCSSCGKRGCGSCGGSKGGCGSCGCSQCSCCKPCCCSSGCGSSCCQCSCCKPYCSQCSCCKPCCSSSGRGSSCCQSSCCKPCCSSSGCGSSCCQSSCCKPCCSQSRCCVPVCYQCKI

opentargets:
cytosol [GO:0005829]; keratin filament [GO:0045095]; epidermis development [GO:0008544]; keratinization [GO:0031424]


uniprotID: Q9Y662
geneSymbol: HS3ST3B1
reactome: R-HSA-2022928;
length: 390
go: ENSG00000125430;
name:
Heparan sulfate glucosamine 3-O-sulfotransferase 3B1 (EC 2.8.2.30) (Heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3B1) (3-OST-3B) (Heparan sulfate 3-O-sulfotransferase 3B1) (h3-OST-3B)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of plasma membrane [GO:0005887]; [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity [GO:0008467]; [heparan sulfate]-glucosamine 3-sulfotransferase 3 activity [GO:0033872]; glycosaminoglycan biosynthetic process [GO:0006024]; heparan sulfate proteoglycan biosynthetic process [GO:0015012]; heparan sulfate proteoglycan biosynthetic process, enzymatic modification [GO:0015015]; protein sulfation [GO:0006477]


uniprotID: P25021
geneSymbol: HRH2
reactome: R-HSA-390650;R-HSA-418555;
name: Histamine H2 receptor (H2R) (HH2R) (Gastric receptor I)
length: 359
go: ENSG00000113749;
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
dendrite [GO:0030425]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; G protein-coupled serotonin receptor activity [GO:0004993]; histamine receptor activity [GO:0004969]; neurotransmitter receptor activity [GO:0030594]; chemical synaptic transmission [GO:0007268]; digestive tract development [GO:0048565]; epithelial cell morphogenesis [GO:0003382]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; gastrin-induced gastric acid secretion [GO:0001698]; gland development [GO:0048732]; histamine-induced gastric acid secretion [GO:0001697]; immune response [GO:0006955]; memory [GO:0007613]; positive regulation of vasoconstriction [GO:0045907]; regulation of synaptic plasticity [GO:0048167]; toxin transport [GO:1901998]; visual learning [GO:0008542]

drug:
DB00321;DB06216;DB00272;DB00501;DB01142;DB00751;DB00927;DB05381;DB05369;DB00408;DB00940;DB08805;DB00585;DB00334;DB00863;DB08806;DB00797;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P25021-1; Sequence=Displayed; Name=2; IsoId=P25021-2; Sequence=VSP_043594; Note=No experimental confirmation available.; 


uniprotID: Q9Y661
geneSymbol: HS3ST4
reactome: R-HSA-2022928;
length: 456
go: ENSG00000182601;
snps: rs2943336
name:
Heparan sulfate glucosamine 3-O-sulfotransferase 4 (EC 2.8.2.23) (Heparan sulfate D-glucosaminyl 3-O-sulfotransferase 4) (3-OST-4) (Heparan sulfate 3-O-sulfotransferase 4) (h3-OST-4)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity [GO:0008467]; heparan sulfate proteoglycan metabolic process [GO:0030201]


uniprotID: Q14568
geneSymbol: HSP90AA2P
length: 343
snps: rs1826330 rs2726836
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Heat shock protein HSP 90-alpha A2 (Heat shock 90 kDa protein 1 alpha-like 3) (Heat shock protein HSP 90-alpha A2 pseudogene)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; ATP binding [GO:0005524]; unfolded protein binding [GO:0051082]; protein folding [GO:0006457]


uniprotID: Q86X24
geneSymbol: HORMAD1
name: HORMA domain-containing protein 1 (Cancer/testis antigen 46) (CT46) (Newborn ovary HORMA protein)
length: 394
go: ENSG00000143452;
snps: rs1336900
sequence:

opentargets:
chromosome [GO:0005694]; nucleus [GO:0005634]; synaptonemal complex [GO:0000795]; blastocyst development [GO:0001824]; meiotic cell cycle [GO:0051321]; meiotic DNA double-strand break formation [GO:0042138]; meiotic recombination checkpoint [GO:0051598]; meiotic sister chromatid cohesion [GO:0051177]; oogenesis [GO:0048477]; regulation of homologous chromosome segregation [GO:0060629]; spermatogenesis [GO:0007283]; synaptonemal complex assembly [GO:0007130]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=HORMAD1L; IsoId=Q86X24-1; Sequence=Displayed; Name=2; IsoId=Q86X24-2; Sequence=VSP_024602; Name=3; IsoId=Q86X24-3; Sequence=VSP_024600, VSP_024601; Name=4; IsoId=Q86X24-4; Sequence=VSP_024600, VSP_024601, VSP_024603; Name=5; IsoId=Q86X24-5; Sequence=VSP_024600, VSP_024601, VSP_024602; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q9D5T7}. Chromosome {ECO:0000250|UniProtKB:Q9D5T7}. Note=Preferentially localizes to unsynapsed or desynapsed chromosomal regions during the prophase I stage of meiosis. TRIP13 is required for depletion from synapsed chromosomes. The expression of the phosphorylated form at Ser-377 is restricted to unsynapsed chromosomal regions (By similarity). {ECO:0000250|UniProtKB:Q9D5T7}.


uniprotID: Q86XE5
geneSymbol: HOGA1
reactome: R-HSA-389661;
pdb: 3S5N;3S5O;
length: 327
go: ENSG00000241935;
snps: rs267606764 rs138207257
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250|UniProtKB:Q0P5I5}.
name:
4-hydroxy-2-oxoglutarate aldolase, mitochondrial (EC 4.1.3.16) (Dihydrodipicolinate synthase-like) (DHDPS-like protein) (Probable 2-keto-4-hydroxyglutarate aldolase) (Probable KHG-aldolase) (Protein 569272)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; 4-hydroxy-2-oxoglutarate aldolase activity [GO:0008700]; protein homodimerization activity [GO:0042803]; 4-hydroxyproline catabolic process [GO:0019470]; glyoxylate catabolic process [GO:0009436]; glyoxylate metabolic process [GO:0046487]; oxalate metabolic process [GO:0033609]; pyruvate biosynthetic process [GO:0042866]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86XE5-1; Sequence=Displayed; Name=2; IsoId=Q86XE5-3; Sequence=VSP_022515; Note=No experimental confirmation available.; 


uniprotID: Q6YN16
geneSymbol: HSDL2
pdb: 3KVO;
length: 418
go: ENSG00000119471;
location: SUBCELLULAR LOCATION: Peroxisome {ECO:0000269|PubMed:19703561}.
name:
Hydroxysteroid dehydrogenase-like protein 2 (EC 1.-.-.-) (Short chain dehydrogenase/reductase family 13C member 1)

sequence:

opentargets:
membrane [GO:0016020]; mitochondrion [GO:0005739]; peroxisome [GO:0005777]; oxidoreductase activity [GO:0016491]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6YN16-1; Sequence=Displayed; Name=2; IsoId=Q6YN16-2; Sequence=VSP_031529; 


uniprotID: Q96JZ2
geneSymbol: HSH2D
pdb: 2CS0;
length: 352
go: ENSG00000196684;
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
name:
Hematopoietic SH2 domain-containing protein (Hematopoietic SH2 protein) (Adaptor in lymphocytes of unknown function X)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; SH3/SH2 adaptor activity [GO:0005070]; negative regulation of B cell apoptotic process [GO:0002903]; negative regulation of mitochondrial depolarization [GO:0051902]; signal transduction [GO:0007165]; T cell activation [GO:0042110]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96JZ2-1; Sequence=Displayed; Name=2; IsoId=Q96JZ2-2; Sequence=VSP_018052; Note=No experimental confirmation available.; 


