# annotation

uniprotID: O00291
geneSymbol: HIP1
reactome: R-HSA-8856828;
pdb: 2NO2;2QA7;3I00;
name: Huntingtin-interacting protein 1 (HIP-1) (Huntingtin-interacting protein I) (HIP-I)
length: 1037
go: ENSG00000127946;
snps: rs17149023
sequence:

opentargets:
actin cortical patch [GO:0030479]; clathrin-coated vesicle [GO:0030136]; clathrin-coated vesicle membrane [GO:0030665]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; extrinsic component of postsynaptic membrane [GO:0098890]; extrinsic component of presynaptic membrane [GO:0098888]; glutamatergic synapse [GO:0098978]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; nucleus [GO:0005634]; postsynapse [GO:0098794]; presynapse [GO:0098793]; actin filament binding [GO:0051015]; AP-2 adaptor complex binding [GO:0035612]; clathrin adaptor activity [GO:0035615]; clathrin binding [GO:0030276]; clathrin light chain binding [GO:0032051]; epidermal growth factor receptor binding [GO:0005154]; glutamate receptor binding [GO:0035254]; phosphatidylinositol binding [GO:0035091]; phosphatidylinositol-3,4-bisphosphate binding [GO:0043325]; phosphatidylinositol-3,5-bisphosphate binding [GO:0080025]; phosphatidylinositol-3-phosphate binding [GO:0032266]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; structural constituent of cytoskeleton [GO:0005200]; actin filament organization [GO:0007015]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; apoptotic process [GO:0006915]; apoptotic signaling pathway [GO:0097190]; cell differentiation [GO:0030154]; clathrin coat assembly [GO:0048268]; clathrin-dependent endocytosis [GO:0072583]; membrane organization [GO:0061024]; neurotransmitter receptor transport [GO:0099637]; positive regulation of epidermal growth factor receptor signaling pathway [GO:0045742]; positive regulation of platelet-derived growth factor receptor-beta signaling pathway [GO:2000588]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of receptor-mediated endocytosis [GO:0048260]; protein stabilization [GO:0050821]; regulation of apoptotic process [GO:0042981]; regulation of endocytosis [GO:0030100]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=HIP1-1; IsoId=O00291-1; Sequence=Displayed; Name=HIP1-2; IsoId=O00291-2; Sequence=Not described; Name=3; IsoId=O00291-3; Sequence=VSP_044736; Note=No experimental confirmation available.; Name=4; IsoId=O00291-4; Sequence=VSP_057400; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Endomembrane system. Cytoplasmic vesicle, clathrin-coated vesicle membrane. Note=Shuttles between cytoplasm and nucleus. Nuclear translocation can be induced by AR.


uniprotID: Q9H2X6
geneSymbol: HIPK2
reactome: R-HSA-2032785;R-HSA-3899300;R-HSA-5578768;R-HSA-6804756;R-HSA-8939243;
name: Homeodomain-interacting protein kinase 2 (hHIPk2) (EC 2.7.11.1)
length: 1198
go: ENSG00000064393;
snps: rs56132157 rs35255718
sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; RNA polymerase II transcription factor complex [GO:0090575]; ATP binding [GO:0005524]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; RNA polymerase II activating transcription factor binding [GO:0001102]; SMAD binding [GO:0046332]; transcription coactivator activity [GO:0003713]; transcription corepressor activity [GO:0003714]; virion binding [GO:0046790]; adult walking behavior [GO:0007628]; anterior/posterior pattern specification [GO:0009952]; cellular response to hypoxia [GO:0071456]; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator [GO:0006978]; embryonic camera-type eye morphogenesis [GO:0048596]; embryonic retina morphogenesis in camera-type eye [GO:0060059]; erythrocyte differentiation [GO:0030218]; eye development [GO:0001654]; intrinsic apoptotic signaling pathway [GO:0097193]; intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:0042771]; iris morphogenesis [GO:0061072]; lens induction in camera-type eye [GO:0060235]; modulation by virus of host morphology or physiology [GO:0019048]; negative regulation of BMP signaling pathway [GO:0030514]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of ubiquitin-dependent protein catabolic process [GO:2000059]; neuron differentiation [GO:0030182]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; PML body organization [GO:0030578]; positive regulation of angiogenesis [GO:0045766]; positive regulation of cell proliferation [GO:0008284]; positive regulation of DNA binding [GO:0043388]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of JNK cascade [GO:0046330]; positive regulation of protein binding [GO:0032092]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of transforming growth factor beta receptor signaling pathway [GO:0030511]; protein phosphorylation [GO:0006468]; regulation of cell cycle [GO:0051726]; regulation of signal transduction by p53 class mediator [GO:1901796]; retina layer formation [GO:0010842]; SMAD protein signal transduction [GO:0060395]; smoothened signaling pathway [GO:0007224]; transforming growth factor beta receptor signaling pathway [GO:0007179]; voluntary musculoskeletal movement [GO:0050882]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q9H2X6-1; Sequence=Displayed; Name=2; IsoId=Q9H2X6-2; Sequence=VSP_004805, VSP_004806, VSP_004807; Name=3; IsoId=Q9H2X6-3; Sequence=VSP_004804; 

location:
SUBCELLULAR LOCATION: Nucleus, PML body {ECO:0000269|PubMed:27211601}. Cytoplasm. Note=Concentrated in PML/POD/ND10 nuclear bodies. Small amounts are cytoplasmic.


uniprotID: Q96JK4
geneSymbol: HHIPL1
name: HHIP-like protein 1
length: 782
go: ENSG00000182218;
snps: rs7158073
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular region [GO:0005576]; membrane [GO:0016020]; catalytic activity [GO:0003824]; scavenger receptor activity [GO:0005044]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96JK4-1; Sequence=Displayed; Name=2; IsoId=Q96JK4-2; Sequence=VSP_030455, VSP_030456; 


uniprotID: Q9BW71
geneSymbol: HIRIP3
name: HIRA-interacting protein 3
length: 556
go: ENSG00000149929;
opentargets: nucleolus [GO:0005730]; nucleus [GO:0005634]; chromatin assembly or disassembly [GO:0006333]
snps: rs35431046 rs11643314
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BW71-1; Sequence=Displayed; Name=2; IsoId=Q9BW71-2; Sequence=VSP_003877; Name=3; IsoId=Q9BW71-3; Sequence=VSP_046024, VSP_046025; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17391060}. Note=Nuclear throughout the cell cycle and is excluded from condensed chromatin during mitosis.


uniprotID: O43187
geneSymbol: IRAK2
pdb: 3MOP;
name: Interleukin-1 receptor-associated kinase-like 2 (IRAK-2)
length: 625
go: ENSG00000134070;
reactome:
R-HSA-166058;R-HSA-168638;R-HSA-445989;R-HSA-450302;R-HSA-450321;R-HSA-9014325;R-HSA-9020702;R-HSA-937042;R-HSA-937072;R-HSA-975138;R-HSA-975155;R-HSA-975163;R-HSA-975871;

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endosome membrane [GO:0010008]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; protein serine/threonine kinase activity [GO:0004674]; activation of MAPK activity [GO:0000187]; cytokine-mediated signaling pathway [GO:0019221]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; inflammatory response [GO:0006954]; interleukin-1-mediated signaling pathway [GO:0070498]; intracellular signal transduction [GO:0035556]; JNK cascade [GO:0007254]; lipopolysaccharide-mediated signaling pathway [GO:0031663]; MyD88-dependent toll-like receptor signaling pathway [GO:0002755]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; nucleotide-binding oligomerization domain containing signaling pathway [GO:0070423]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; protein phosphorylation [GO:0006468]; regulation of cytokine-mediated signaling pathway [GO:0001959]; response to interleukin-1 [GO:0070555]; toll-like receptor 9 signaling pathway [GO:0034162]; toll-like receptor signaling pathway [GO:0002224]

snps:
rs34945585 rs11465864 rs55898544 rs56053222 rs35060588 rs3844283 rs708035 rs11465927 rs56242986 rs9854688 rs55740652 rs11465930 


uniprotID: Q9Y616
geneSymbol: IRAK3
reactome: R-HSA-166058;R-HSA-9020702;
pdb: 5UKE;
length: 596
go: ENSG00000090376;
name:
Interleukin-1 receptor-associated kinase 3 (IRAK-3) (EC 2.7.11.1) (IL-1 receptor-associated kinase M) (IRAK-M)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; protein serine/threonine kinase activity [GO:0004674]; cytokine-mediated signaling pathway [GO:0019221]; interleukin-1-mediated signaling pathway [GO:0070498]; intracellular signal transduction [GO:0035556]; MyD88-dependent toll-like receptor signaling pathway [GO:0002755]; negative regulation of cytokine-mediated signaling pathway [GO:0001960]; negative regulation of innate immune response [GO:0045824]; negative regulation of interleukin-12 production [GO:0032695]; negative regulation of interleukin-6 production [GO:0032715]; negative regulation of macrophage cytokine production [GO:0010936]; negative regulation of MAP kinase activity [GO:0043407]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of protein catabolic process [GO:0042177]; negative regulation of protein complex disassembly [GO:0043242]; negative regulation of toll-like receptor signaling pathway [GO:0034122]; negative regulation of tumor necrosis factor production [GO:0032720]; positive regulation of macrophage tolerance induction [GO:0010933]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of protein complex disassembly [GO:0043244]; response to exogenous dsRNA [GO:0043330]; response to interleukin-1 [GO:0070555]; response to lipopolysaccharide [GO:0032496]; response to peptidoglycan [GO:0032494]; response to virus [GO:0009615]

snps:
rs536546109 rs35239505 rs34443407 rs373806603 rs138559915 rs1152888 rs34682166 rs35823766 rs11465972 rs35574245 rs34272472 rs35737689 rs146120640 rs140671957 rs35756811 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y616-1; Sequence=Displayed; Name=2; IsoId=Q9Y616-2; Sequence=VSP_041020; Note=No experimental confirmation available.; 


uniprotID: P15515
geneSymbol: HTN1
reactome: R-HSA-6803157;
sequence: MKFFVFALVLALMISMISADSHEKRHHGYRRKFHEKHHSHREFPFYGDYGSNYLYDN
length: 57
go: ENSG00000126550;
location: SUBCELLULAR LOCATION: Secreted.
name:
Histatin-1 (Histidine-rich protein 1) (Post-PB protein) (PPB) [Cleaved into: His1-(31-57)-peptide (His1 31/57) (His1-(12-38)-peptide) (His1 12/38) (Histatin-2)]

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; antimicrobial humoral response [GO:0019730]; biomineral tissue development [GO:0031214]; defense response to bacterium [GO:0042742]; defense response to fungus [GO:0050832]; killing of cells of other organism [GO:0031640]


uniprotID: Q9P0W2
geneSymbol: HMG20B
reactome: R-HSA-3214815;R-HSA-983231;
length: 317
go: ENSG00000064961;
name:
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1-related (SMARCE1-related protein) (BRCA2-associated factor 35) (HMG box-containing protein 20B) (HMG domain-containing protein 2) (HMG domain-containing protein HMGX2) (Sox-like transcriptional factor) (Structural DNA-binding protein BRAF35)

sequence:

opentargets:
chromosome [GO:0005694]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone deacetylase activity [GO:0004407]; protein heterodimerization activity [GO:0046982]; blood coagulation [GO:0007596]; cell cycle [GO:0007049]; negative regulation of protein sumoylation [GO:0033234]; positive regulation of neuron differentiation [GO:0045666]; skeletal muscle cell differentiation [GO:0035914]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9P0W2-1; Sequence=Displayed; Name=2; IsoId=Q9P0W2-2; Sequence=VSP_037131; Name=3; IsoId=Q9P0W2-3; Sequence=VSP_037132; 

location:
SUBCELLULAR LOCATION: Nucleus. Chromosome. Note=Localized to condensed chromosomes in mitosis in conjunction with BRCA2.


uniprotID: P09429
geneSymbol: HMGB1
reactome: R-HSA-211227;R-HSA-445989;R-HSA-5686938;R-HSA-6798695;R-HSA-879415;R-HSA-933542;
pdb: 2LY4;2RTU;2YRQ;6CG0;6CIJ;6CIK;6CIL;6CIM;
name: High mobility group protein B1 (High mobility group protein 1) (HMG-1)
length: 215
go: ENSG00000189403;
drug: DB05869;
sequence:

opentargets:
alphav-beta3 integrin-HMGB1 complex [GO:0035868]; cell surface [GO:0009986]; condensed chromosome [GO:0000793]; cytoplasm [GO:0005737]; early endosome [GO:0005769]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; ficolin-1-rich granule lumen [GO:1904813]; neuron projection [GO:0043005]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; secretory granule lumen [GO:0034774]; transcriptional repressor complex [GO:0017053]; bubble DNA binding [GO:0000405]; C-X-C chemokine binding [GO:0019958]; calcium-dependent protein kinase regulator activity [GO:0010858]; chemoattractant activity [GO:0042056]; cytokine activity [GO:0005125]; damaged DNA binding [GO:0003684]; DNA binding, bending [GO:0008301]; DNA polymerase binding [GO:0070182]; DNA-binding transcription factor activity [GO:0003700]; double-stranded DNA binding [GO:0003690]; double-stranded RNA binding [GO:0003725]; four-way junction DNA binding [GO:0000400]; integrin binding [GO:0005178]; lipopolysaccharide binding [GO:0001530]; lyase activity [GO:0016829]; phosphatidylserine binding [GO:0001786]; protein kinase activator activity [GO:0030295]; RAGE receptor binding [GO:0050786]; repressing transcription factor binding [GO:0070491]; RNA binding [GO:0003723]; single-stranded DNA binding [GO:0003697]; single-stranded RNA binding [GO:0003727]; supercoiled DNA binding [GO:0097100]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; activation of innate immune response [GO:0002218]; apoptotic cell clearance [GO:0043277]; apoptotic DNA fragmentation [GO:0006309]; autophagy [GO:0006914]; base-excision repair [GO:0006284]; cell chemotaxis [GO:0060326]; chromatin assembly [GO:0031497]; chromatin remodeling [GO:0006338]; chromatin silencing [GO:0006342]; dendritic cell chemotaxis [GO:0002407]; developmental process [GO:0032502]; DNA geometric change [GO:0032392]; DNA ligation involved in DNA repair [GO:0051103]; DNA recombination [GO:0006310]; DNA topological change [GO:0006265]; endothelial cell chemotaxis [GO:0035767]; endothelial cell proliferation [GO:0001935]; eye development [GO:0001654]; inflammatory response [GO:0006954]; inflammatory response to antigenic stimulus [GO:0002437]; innate immune response [GO:0045087]; lung development [GO:0030324]; macrophage activation involved in immune response [GO:0002281]; myeloid dendritic cell activation [GO:0001773]; negative regulation of apoptotic cell clearance [GO:2000426]; negative regulation of blood vessel endothelial cell migration [GO:0043537]; negative regulation of CD4-positive, alpha-beta T cell differentiation [GO:0043371]; negative regulation of interferon-gamma production [GO:0032689]; negative regulation of RNA polymerase II transcriptional preinitiation complex assembly [GO:0017055]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neuron projection development [GO:0031175]; neutrophil clearance [GO:0097350]; neutrophil degranulation [GO:0043312]; plasmacytoid dendritic cell activation [GO:0002270]; positive regulation of activated T cell proliferation [GO:0042104]; positive regulation of apoptotic process [GO:0043065]; positive regulation of autophagy [GO:0010508]; positive regulation of blood vessel endothelial cell migration [GO:0043536]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of dendritic cell differentiation [GO:2001200]; positive regulation of DNA binding [GO:0043388]; positive regulation of DNA ligation [GO:0051106]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of glycogen catabolic process [GO:0045819]; positive regulation of innate immune response [GO:0045089]; positive regulation of interferon-alpha secretion [GO:1902741]; positive regulation of interferon-beta production [GO:0032728]; positive regulation of interleukin-1 beta secretion [GO:0050718]; positive regulation of interleukin-1 secretion [GO:0050716]; positive regulation of interleukin-10 production [GO:0032733]; positive regulation of interleukin-12 production [GO:0032735]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of interleukin-6 secretion [GO:2000778]; positive regulation of JNK cascade [GO:0046330]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of mismatch repair [GO:0032425]; positive regulation of monocyte chemotactic protein-1 production [GO:0071639]; positive regulation of monocyte chemotaxis [GO:0090026]; positive regulation of myeloid cell differentiation [GO:0045639]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; positive regulation of sprouting angiogenesis [GO:1903672]; positive regulation of toll-like receptor 2 signaling pathway [GO:0034137]; positive regulation of toll-like receptor 4 signaling pathway [GO:0034145]; positive regulation of toll-like receptor 9 signaling pathway [GO:0034165]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of tumor necrosis factor production [GO:0032760]; positive regulation of vascular endothelial cell proliferation [GO:1905564]; positive regulation of wound healing [GO:0090303]; regulation of autophagy [GO:0010506]; regulation of nucleotide-excision repair [GO:2000819]; regulation of restriction endodeoxyribonuclease activity [GO:0032072]; regulation of signaling receptor activity [GO:0010469]; regulation of T cell mediated immune response to tumor cell [GO:0002840]; regulation of tolerance induction [GO:0002643]; regulation of transcription by RNA polymerase II [GO:0006357]; response to glucocorticoid [GO:0051384]; T-helper 1 cell activation [GO:0035711]; T-helper 1 cell differentiation [GO:0045063]; toll-like receptor signaling pathway [GO:0002224]; tumor necrosis factor secretion [GO:1990774]; V(D)J recombination [GO:0033151]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12231511, ECO:0000269|PubMed:17114460, ECO:0000269|PubMed:20819940, ECO:0000269|PubMed:22869893, ECO:0000269|PubMed:27362237}. Chromosome {ECO:0000250|UniProtKB:P10103, ECO:0000250|UniProtKB:P63159, ECO:0000305}. Cytoplasm {ECO:0000269|PubMed:11154118, ECO:0000269|PubMed:12231511, ECO:0000269|PubMed:17114460, ECO:0000269|PubMed:20819940, ECO:0000269|PubMed:22869893}. Secreted {ECO:0000250|UniProtKB:P63158, ECO:0000269|PubMed:12231511, ECO:0000269|PubMed:14532127, ECO:0000269|PubMed:15944249, ECO:0000269|PubMed:19811284, ECO:0000269|PubMed:22869893}. Cell membrane {ECO:0000250|UniProtKB:P63158, ECO:0000250|UniProtKB:P63159, ECO:0000269|PubMed:11154118}; Peripheral membrane protein {ECO:0000250|UniProtKB:P63158, ECO:0000250|UniProtKB:P63159, ECO:0000269|PubMed:11154118}; Extracellular side {ECO:0000250|UniProtKB:P63158, ECO:0000250|UniProtKB:P63159, ECO:0000269|PubMed:11154118}. Endosome {ECO:0000250|UniProtKB:P63158}. Endoplasmic reticulum-Golgi intermediate compartment {ECO:0000250|UniProtKB:P63158}. Note=In basal state predominantly nuclear. Shuttles between the cytoplasm and the nucleus (PubMed:12231511, PubMed:17114460). Translocates from the nucleus to the cytoplasm upon autophagy stimulation (PubMed:20819940). Release from macrophages in the extracellular milieu requires the activation of NLRC4 or NLRP3 inflammasomes (By similarity). Passively released to the extracellular milieu from necrotic cells by diffusion, involving the fully reduced HGMB1 which subsequently gets oxidized (PubMed:19811284). Also released from apoptotic cells (PubMed:16855214, PubMed:18631454). Active secretion from a variety of immune and non-immune cells such as macrophages, monocytes, neutrophils, dendritic cells and natural killer cells in response to various stimuli such as LPS and cytokines involves a nonconventional secretory process via secretory lysosomes (PubMed:12231511, PubMed:14532127, PubMed:15944249). Secreted by plasma cells in response to LPS (By similarity). Found on the surface of activated platelets (PubMed:11154118). An increased chromatin association is observed when associated with the adenovirus protein pVII (PubMed:27362237). {ECO:0000250|UniProtKB:P63158, ECO:0000269|PubMed:11154118, ECO:0000269|PubMed:12231511, ECO:0000269|PubMed:14532127, ECO:0000269|PubMed:15944249, ECO:0000269|PubMed:16855214, ECO:0000269|PubMed:17114460, ECO:0000269|PubMed:18631454, ECO:0000269|PubMed:19811284, ECO:0000269|PubMed:20819940, ECO:0000269|PubMed:27362237, ECO:0000305|PubMed:20123072}.


uniprotID: Q15651
geneSymbol: HMGN3
sequence: MPKRKSPENTEGKDGSKVTKQEPTRRSARLSAKPAPPKPEPKPRKTSAKKEPGAKISRGAKGKKEEKQEAGKEGTAPSENGETKAEEAQKTESVDNEGE
length: 99
go: ENSG00000118418;
location: SUBCELLULAR LOCATION: Nucleus.
name:
High mobility group nucleosome-binding domain-containing protein 3 (Thyroid receptor-interacting protein 7) (TR-interacting protein 7) (TRIP-7)

opentargets:
chromatin [GO:0000785]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleosomal DNA binding [GO:0031492]; thyroid hormone receptor binding [GO:0046966]; chromatin organization [GO:0006325]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0061178]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=HMGN3a; IsoId=Q15651-1; Sequence=Displayed; Name=2; Synonyms=HMGN3b; IsoId=Q15651-2; Sequence=VSP_017907, VSP_017908; 


uniprotID: O60812
geneSymbol: HNRNPCL1
name: Heterogeneous nuclear ribonucleoprotein C-like 1 (hnRNP C-like-1) (hnRNP core protein C-like 1)
length: 293
go: ENSG00000179172;
opentargets: nucleus [GO:0005634]; RNA binding [GO:0003723]
snps: rs2982092 rs6702447 rs2076063
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Note=Component of ribonucleosomes. {ECO:0000250}.
sequence:


uniprotID: Q9UN86
geneSymbol: G3BP2
pdb: 5DRV;
name: Ras GTPase-activating protein-binding protein 2 (G3BP-2) (GAP SH3 domain-binding protein 2)
length: 482
go: ENSG00000138757;
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; ribonucleoprotein complex [GO:1990904]; mRNA binding [GO:0003729]; receptor signaling complex scaffold activity [GO:0030159]; RNA binding [GO:0003723]; cytoplasmic sequestering of NF-kappaB [GO:0007253]; mRNA transport [GO:0051028]; Ras protein signal transduction [GO:0007265]; stress granule assembly [GO:0034063]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=A; IsoId=Q9UN86-1; Sequence=Displayed; Name=B; IsoId=Q9UN86-2; Sequence=VSP_003605; 


uniprotID: P31270
geneSymbol: HOXA11
name: Homeobox protein Hox-A11 (Homeobox protein Hox-1I)
length: 313
go: ENSG00000005073;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleoplasm [GO:0005654]; protein-containing complex [GO:0032991]; protein-DNA complex [GO:0032993]; transcription factor complex [GO:0005667]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; anatomical structure morphogenesis [GO:0009653]; anterior/posterior pattern specification [GO:0009952]; branching involved in ureteric bud morphogenesis [GO:0001658]; cartilage development involved in endochondral bone morphogenesis [GO:0060351]; developmental growth [GO:0048589]; dorsal/ventral pattern formation [GO:0009953]; embryonic digit morphogenesis [GO:0042733]; embryonic forelimb morphogenesis [GO:0035115]; embryonic limb morphogenesis [GO:0030326]; embryonic skeletal joint morphogenesis [GO:0060272]; male gonad development [GO:0008584]; mesodermal cell fate specification [GO:0007501]; metanephros development [GO:0001656]; multicellular organism development [GO:0007275]; organ induction [GO:0001759]; positive regulation of cell development [GO:0010720]; positive regulation of chondrocyte differentiation [GO:0032332]; positive regulation of transcription, DNA-templated [GO:0045893]; proximal/distal pattern formation [GO:0009954]; single fertilization [GO:0007338]; skeletal system development [GO:0001501]; spermatogenesis [GO:0007283]; uterus development [GO:0060065]


uniprotID: P31267
geneSymbol: HOXA6
name: Homeobox protein Hox-A6 (Homeobox protein Hox-1B)
length: 233
go: ENSG00000106006;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; anterior/posterior pattern specification [GO:0009952]; embryonic skeletal system morphogenesis [GO:0048704]


uniprotID: Q92826
geneSymbol: HOXB13
pdb: 2CRA;5EDN;5EEA;5EF6;5EG0;5EGO;5NO6;
name: Homeobox protein Hox-B13
length: 284
go: ENSG00000159184;
snps: rs199799743 rs138213197 rs375917549 rs139475791
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleoplasm [GO:0005654]; transcription factor complex [GO:0005667]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; methyl-CpG binding [GO:0008327]; sequence-specific DNA binding [GO:0043565]; angiogenesis [GO:0001525]; epidermis development [GO:0008544]; epithelial cell maturation involved in prostate gland development [GO:0060743]; negative regulation of transcription by RNA polymerase II [GO:0000122]; prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis [GO:0060527]; regulation of growth [GO:0040008]; response to testosterone [GO:0033574]; response to wounding [GO:0009611]


uniprotID: P14653
geneSymbol: HOXB1
reactome: R-HSA-5617472;
pdb: 1B72;
name: Homeobox protein Hox-B1 (Homeobox protein Hox-2I)
length: 301
go: ENSG00000120094;
snps: rs35254561 rs12939811 rs387907239 rs7226137
location: SUBCELLULAR LOCATION: Nucleus.
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]; protein domain specific binding [GO:0019904]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; anatomical structure formation involved in morphogenesis [GO:0048646]; anterior/posterior pattern specification [GO:0009952]; embryonic skeletal system morphogenesis [GO:0048704]; facial nerve structural organization [GO:0021612]; facial nucleus development [GO:0021754]; multicellular organism development [GO:0007275]; pattern specification process [GO:0007389]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription, DNA-templated [GO:0006355]; rhombomere 4 development [GO:0021570]; rhombomere 5 development [GO:0021571]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P14653-1; Sequence=Displayed; Name=2; IsoId=P14653-2; Sequence=VSP_056813, VSP_056814; Note=No experimental confirmation available.; 


uniprotID: P14652
geneSymbol: HOXB2
reactome: R-HSA-5617472;
name: Homeobox protein Hox-B2 (Homeobox protein Hox-2.8) (Homeobox protein Hox-2H) (K8)
length: 356
go: ENSG00000173917;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytosol [GO:0005829]; nuclear speck [GO:0016607]; 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]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; anterior/posterior pattern specification [GO:0009952]; blood circulation [GO:0008015]; dorsal/ventral pattern formation [GO:0009953]; embryonic skeletal system morphogenesis [GO:0048704]; facial nerve structural organization [GO:0021612]; morphogenesis of an epithelial sheet [GO:0002011]; multicellular organism development [GO:0007275]; neural nucleus development [GO:0048857]; positive regulation of transcription by RNA polymerase II [GO:0045944]; rhombomere 3 development [GO:0021569]; rhombomere 4 development [GO:0021570]


uniprotID: P14651
geneSymbol: HOXB3
reactome: R-HSA-5617472;
name: Homeobox protein Hox-B3 (Homeobox protein Hox-2.7) (Homeobox protein Hox-2G)
length: 431
go: ENSG00000120093;
snps: rs2229304
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; angiogenesis [GO:0001525]; anterior/posterior pattern specification [GO:0009952]; cartilage development [GO:0051216]; definitive hemopoiesis [GO:0060216]; embryonic skeletal system morphogenesis [GO:0048704]; face development [GO:0060324]; glossopharyngeal nerve morphogenesis [GO:0021615]; hematopoietic progenitor cell differentiation [GO:0002244]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of neurogenesis [GO:0050767]; rhombomere development [GO:0021546]; thyroid gland development [GO:0030878]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P14651-1; Sequence=Displayed; Name=2; IsoId=P14651-2; Sequence=VSP_056434; Note=No experimental confirmation available.; Name=3; IsoId=P14651-3; Sequence=VSP_056815; Note=No experimental confirmation available.; 


uniprotID: P09067
geneSymbol: HOXB5
length: 269
go: ENSG00000120075;
location: SUBCELLULAR LOCATION: Nucleus.
name:
Homeobox protein Hox-B5 (Homeobox protein HHO.C10) (Homeobox protein Hox-2A) (Homeobox protein Hu-1)

sequence:

opentargets:
cytosol [GO:0005829]; fibrillar center [GO:0001650]; nucleus [GO:0005634]; distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001205]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; anatomical structure morphogenesis [GO:0009653]; anterior/posterior pattern specification [GO:0009952]; embryonic skeletal system morphogenesis [GO:0048704]; endothelial cell differentiation [GO:0045446]


uniprotID: P17482
geneSymbol: HOXB9
name: Homeobox protein Hox-B9 (Homeobox protein Hox-2.5) (Homeobox protein Hox-2E)
length: 250
go: ENSG00000170689;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; RNA polymerase II transcription factor complex [GO:0090575]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; anterior/posterior pattern specification [GO:0009952]; cell chemotaxis [GO:0060326]; embryonic skeletal system development [GO:0048706]; mammary gland development [GO:0030879]; positive regulation of transcription by RNA polymerase II [GO:0045944]; transcription, DNA-templated [GO:0006351]


uniprotID: Q2M3T9
geneSymbol: HYAL4
length: 481
go: ENSG00000106302;
snps: rs6949082
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Hyaluronidase-4 (Hyal-4) (EC 3.2.1.35) (Chondroitin sulfate endo-beta-N-acetylgalactosaminidase) (Chondroitin sulfate hydrolase) (CSHY) (Hyaluronoglucosaminidase-4)

sequence:

opentargets:
cell surface [GO:0009986]; integral component of membrane [GO:0016021]; hyalurononglucosaminidase activity [GO:0004415]; carbohydrate metabolic process [GO:0005975]; chondroitin sulfate catabolic process [GO:0030207]; glycosaminoglycan catabolic process [GO:0006027]


uniprotID: Q92839
geneSymbol: HAS1
reactome: R-HSA-2142850;
length: 578
go: ENSG00000105509;
snps: rs7248778
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Hyaluronan synthase 1 (EC 2.4.1.212) (Hyaluronate synthase 1) (Hyaluronic acid synthase 1) (HA synthase 1) (HuHAS1)

sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; hyaluronan synthase activity [GO:0050501]; identical protein binding [GO:0042802]; cell adhesion [GO:0007155]; cellular response to platelet-derived growth factor stimulus [GO:0036120]; estrous cycle [GO:0044849]; extracellular matrix assembly [GO:0085029]; extracellular polysaccharide biosynthetic process [GO:0045226]; glycosaminoglycan biosynthetic process [GO:0006024]; hyaluronan biosynthetic process [GO:0030213]; negative regulation of fibroblast migration [GO:0010764]


uniprotID: O00219
geneSymbol: HAS3
reactome: R-HSA-2142850;
length: 553
go: ENSG00000103044;
snps: rs2232229
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Hyaluronan synthase 3 (EC 2.4.1.212) (Hyaluronate synthase 3) (Hyaluronic acid synthase 3) (HA synthase 3)

sequence:

opentargets:
cytoplasm [GO:0005737]; hyaluranon cable [GO:0036117]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; hyaluronan synthase activity [GO:0050501]; identical protein binding [GO:0042802]; carbohydrate metabolic process [GO:0005975]; extracellular matrix assembly [GO:0085029]; extracellular polysaccharide biosynthetic process [GO:0045226]; hyaluronan biosynthetic process [GO:0030213]; positive regulation of hyaluranon cable assembly [GO:1900106]; positive regulation of transcription, DNA-templated [GO:0045893]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O00219-1; Sequence=Displayed; Name=2; IsoId=O00219-2; Sequence=VSP_042022; Note=No experimental confirmation available.; 


uniprotID: Q9BYI3
geneSymbol: FAM126A
pdb: 5DSE;6BQ1;
name: Hyccin (Down-regulated by CTNNB1 protein A) (Protein FAM126A)
length: 521
go: ENSG00000122591;
snps: rs72549407 rs192409840
sequence:

opentargets:
cytosol [GO:0005829]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; myelination [GO:0042552]; phosphatidylinositol phosphorylation [GO:0046854]; protein localization to plasma membrane [GO:0072659]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BYI3-1; Sequence=Displayed; Name=2; IsoId=Q9BYI3-2; Sequence=VSP_023126; Note=No experimental confirmation available.; Name=3; IsoId=Q9BYI3-3; Sequence=VSP_058128, VSP_058129; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:10910037, ECO:0000269|PubMed:26571211}. Cell membrane {ECO:0000269|PubMed:16951682, ECO:0000269|PubMed:26571211}. Note=Localizes to the cytosol and is recruited to the plasma membrane following interaction with other components of the phosphatidylinositol 4-kinase (PI4K) complex. {ECO:0000269|PubMed:26571211}.


uniprotID: Q4G0P3
geneSymbol: HYDIN
pdb: 2E6J;2YS4;
name: Hydrocephalus-inducing protein homolog
length: 5121
go: ENSG00000157423;
location: SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000305}.
sequence:

opentargets:
axonemal central pair projection [GO:1990718]; axonemal central apparatus assembly [GO:1904158]; cilium movement [GO:0003341]; epithelial cell development [GO:0002064]; trachea development [GO:0060438]; ventricular system development [GO:0021591]

snps:
rs7200485 rs7200126 rs10744982 rs3817211 rs6416709 rs1774513 rs1774303 rs783762 rs783732 rs17321570 rs1774541 rs1798337 rs2258307 rs1815707 rs1774360 rs2502726 rs1798532 rs1798531 rs1798529 rs1798528 rs8044142 rs8044001 rs1774395 rs1774449 rs11075812 rs8047935 rs7188837 rs12102425 rs1774423 rs7197263 rs1798440 rs1774331 rs1774504 rs1798413 rs13338821 rs1798325 rs7192347 rs1626593 rs1539302 rs11075798 rs1774416 rs1798314 rs1891343 rs1770434 rs1774480 rs1770442 rs783898 rs2795652 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q4G0P3-1; Sequence=Displayed; Name=2; IsoId=Q4G0P3-2; Sequence=VSP_024684, VSP_024697, VSP_024698; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=4; IsoId=Q4G0P3-5; Sequence=VSP_024691, VSP_024692; Name=5; IsoId=Q4G0P3-6; Sequence=VSP_024687, VSP_024688; Name=6; IsoId=Q4G0P3-8; Sequence=VSP_042692, VSP_042693, VSP_042694; Note=No experimental confirmation available.; Name=7; IsoId=Q4G0P3-10; Sequence=VSP_046818, VSP_042693, VSP_042694; 


uniprotID: P07099
geneSymbol: EPHX1
reactome: R-HSA-211945;
name: Epoxide hydrolase 1 (EC 3.3.2.9) (Epoxide hydratase) (Microsomal epoxide hydrolase) (mEH)
length: 455
go: ENSG00000143819;
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; organelle membrane [GO:0031090]; cis-stilbene-oxide hydrolase activity [GO:0033961]; epoxide hydrolase activity [GO:0004301]; aromatic compound catabolic process [GO:0019439]; epoxide metabolic process [GO:0097176]; response to organic cyclic compound [GO:0014070]; response to toxic substance [GO:0009636]; xenobiotic metabolic process [GO:0006805]

snps:
rs3738046 rs745306359 rs2234697 rs1051740 rs2234922 rs35073925 rs45449793 rs45495897 rs45563137 rs2234701 

location:
SUBCELLULAR LOCATION: Microsome membrane {ECO:0000250|UniProtKB:P07687}; Single-pass type III membrane protein {ECO:0000250|UniProtKB:P07687}. Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:P07687}; Single-pass type III membrane protein {ECO:0000250|UniProtKB:P07687}.


uniprotID: P34913
geneSymbol: EPHX2
reactome: R-HSA-2142670;R-HSA-9018682;R-HSA-9033241;
length: 555
go: ENSG00000120915;
drug: DB08257;DB08258;DB08259;DB08256;DB02029;DB04213;DB03677;
snps: rs72473930 rs72475803 rs41507953 rs17057255 rs57699806 rs72475821 rs751141 rs72475894 rs68053459
location: SUBCELLULAR LOCATION: Cytoplasm. Peroxisome.
pdb:
1S8O;1VJ5;1ZD2;1ZD3;1ZD4;1ZD5;3ANS;3ANT;3I1Y;3I28;3KOO;3OTQ;3PDC;3WK4;3WK5;3WK6;3WK7;3WK8;3WK9;3WKA;3WKB;3WKC;3WKD;3WKE;4C4X;4C4Y;4C4Z;4HAI;4J03;4JNC;4OCZ;4OD0;4X6X;4X6Y;4Y2J;4Y2P;4Y2Q;4Y2R;4Y2S;4Y2T;4Y2U;4Y2V;4Y2X;4Y2Y;5AHX;5AI0;5AI4;5AI5;5AI6;5AI8;5AI9;5AIA;5AIB;5AIC;5AK3;5AK4;5AK5;5AK6;5AKE;5AKG;5AKH;5AKI;5AKJ;5AKK;5AKL;5AKX;5AKY;5AKZ;5ALD;5ALE;5ALF;5ALG;5ALH;5ALI;5ALJ;5ALK;5ALL;5ALM;5ALN;5ALO;5ALP;5ALQ;5ALR;5ALS;5ALT;5ALU;5ALV;5ALW;5ALX;5ALY;5ALZ;5AM0;5AM1;5AM2;5AM3;5AM4;5AM5;5FP0;5MWA;6AUM;

name:
Bifunctional epoxide hydrolase 2 [Includes: Cytosolic epoxide hydrolase 2 (CEH) (EC 3.3.2.10) (Epoxide hydratase) (Soluble epoxide hydrolase) (SEH); Lipid-phosphate phosphatase (EC 3.1.3.76)]

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; peroxisomal matrix [GO:0005782]; peroxisome [GO:0005777]; 10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity [GO:0033885]; epoxide hydrolase activity [GO:0004301]; lipid phosphatase activity [GO:0042577]; magnesium ion binding [GO:0000287]; phosphatase activity [GO:0016791]; protein homodimerization activity [GO:0042803]; signaling receptor binding [GO:0005102]; toxic substance binding [GO:0015643]; cellular calcium ion homeostasis [GO:0006874]; cholesterol homeostasis [GO:0042632]; dephosphorylation [GO:0016311]; drug metabolic process [GO:0017144]; epoxide metabolic process [GO:0097176]; epoxygenase P450 pathway [GO:0019373]; inflammatory response [GO:0006954]; long-chain fatty acid biosynthetic process [GO:0042759]; phospholipid dephosphorylation [GO:0046839]; positive regulation of blood vessel diameter [GO:0097755]; positive regulation of gene expression [GO:0010628]; protein targeting to peroxisome [GO:0006625]; reactive oxygen species metabolic process [GO:0072593]; regulation of blood pressure [GO:0008217]; regulation of cholesterol metabolic process [GO:0090181]; response to toxic substance [GO:0009636]; stilbene catabolic process [GO:0046272]; xenobiotic metabolic process [GO:0006805]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P34913-1; Sequence=Displayed; Name=2; IsoId=P34913-2; Sequence=VSP_045598; Note=No experimental confirmation available.; Name=3; IsoId=P34913-3; Sequence=VSP_045597; Note=No experimental confirmation available.; 


uniprotID: Q96M11
geneSymbol: HYLS1
name: Hydrolethalus syndrome protein 1
length: 299
go: ENSG00000198331;
snps: rs667782 rs104894232
sequence:

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; cilium [GO:0005929]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; non-motile cilium [GO:0097730]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; cilium assembly [GO:0060271]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15843405}. Cell projection, cilium {ECO:0000250|UniProtKB:A0A1L8ER70, ECO:0000250|UniProtKB:Q95X94}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000250|UniProtKB:A0A1L8ER70, ECO:0000250|UniProtKB:Q95X94}.


uniprotID: Q15306
geneSymbol: IRF4
reactome: R-HSA-6785807;R-HSA-877300;R-HSA-909733;
pdb: 2DLL;
length: 451
go: ENSG00000137265;
location: SUBCELLULAR LOCATION: Nucleus.
name:
Interferon regulatory factor 4 (IRF-4) (Lymphocyte-specific interferon regulatory factor) (LSIRF) (Multiple myeloma oncogene 1) (NF-EM5)

sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; nuclear nucleosome [GO:0000788]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein-lysine N-methyltransferase activity [GO:0016279]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; transcription factor binding [GO:0008134]; cytokine-mediated signaling pathway [GO:0019221]; defense response to protozoan [GO:0042832]; histone H3 acetylation [GO:0043966]; histone H4 acetylation [GO:0043967]; interferon-gamma-mediated signaling pathway [GO:0060333]; myeloid dendritic cell differentiation [GO:0043011]; negative regulation of toll-like receptor signaling pathway [GO:0034122]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of DNA binding [GO:0043388]; positive regulation of interleukin-10 biosynthetic process [GO:0045082]; positive regulation of interleukin-13 biosynthetic process [GO:0045368]; positive regulation of interleukin-2 biosynthetic process [GO:0045086]; positive regulation of interleukin-4 biosynthetic process [GO:0045404]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of T-helper cell differentiation [GO:0045622]; T cell activation [GO:0042110]; T-helper 17 cell lineage commitment [GO:0072540]; type I interferon signaling pathway [GO:0060337]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15306-1; Sequence=Displayed; Name=2; IsoId=Q15306-2; Sequence=VSP_002755; 


uniprotID: Q9BZI1
geneSymbol: IRX2
name: Iroquois-class homeodomain protein IRX-2 (Homeodomain protein IRXA2) (Iroquois homeobox protein 2)
length: 471
go: ENSG00000170561;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; sequence-specific DNA binding [GO:0043565]; negative regulation of transcription by RNA polymerase II [GO:0000122]; proximal/distal pattern formation involved in metanephric nephron development [GO:0072272]; specification of loop of Henle identity [GO:0072086]


uniprotID: P78415
geneSymbol: IRX3
name: Iroquois-class homeodomain protein IRX-3 (Homeodomain protein IRXB1) (Iroquois homeobox protein 3)
length: 501
go: ENSG00000177508;
snps: rs1450355 rs1126960
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; mesoderm development [GO:0007498]; metanephros development [GO:0001656]; negative regulation of neuron differentiation [GO:0045665]; positive regulation of neuron differentiation [GO:0045666]; specification of loop of Henle identity [GO:0072086]


uniprotID: P78411
geneSymbol: IRX5
length: 483
go: ENSG00000176842;
snps: rs387907198 rs786200931
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Iroquois-class homeodomain protein IRX-5 (Homeodomain protein IRX-2A) (Homeodomain protein IRXB2) (Iroquois homeobox protein 5)

sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; vitamin D binding [GO:0005499]; embryonic cranial skeleton morphogenesis [GO:0048701]; gonad development [GO:0008406]; neuron maturation [GO:0042551]; regulation of heart rate [GO:0002027]; response to stimulus [GO:0050896]; retinal bipolar neuron differentiation [GO:0060040]; visual perception [GO:0007601]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P78411-1; Sequence=Displayed; Name=2; IsoId=P78411-2; Sequence=VSP_047364; Name=3; IsoId=P78411-3; Sequence=VSP_047363; 


uniprotID: P05161
geneSymbol: ISG15
reactome: R-HSA-1169408;R-HSA-168276;R-HSA-168928;R-HSA-5656169;R-HSA-909733;R-HSA-936440;
pdb: 1Z2M;2HJ8;3PHX;3PSE;3R66;3RT3;3SDL;5TL6;5W8T;5W8U;6FFA;
length: 165
go: ENSG00000187608;
snps: rs1921
name:
Ubiquitin-like protein ISG15 (Interferon-induced 15 kDa protein) (Interferon-induced 17 kDa protein) (IP17) (Ubiquitin cross-reactive protein) (hUCRP)

sequence:
MGWDLTVKMLAGNEFQVSLSSSMSVSELKAQITQKIGVHAFQQRLAVHPSGVALQDRVPLASQGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQTVAHLKQQVSGLEGVQDDLFWLTFEGKPLEDQLPLGEYGLKPLSTVFMNLRLRGGGTEPGGRS

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; nucleoplasm [GO:0005654]; protein tag [GO:0031386]; defense response to bacterium [GO:0042742]; defense response to virus [GO:0051607]; ISG15-protein conjugation [GO:0032020]; modification-dependent protein catabolic process [GO:0019941]; negative regulation of protein ubiquitination [GO:0031397]; negative regulation of type I interferon production [GO:0032480]; negative regulation of viral genome replication [GO:0045071]; positive regulation of bone mineralization [GO:0030501]; positive regulation of erythrocyte differentiation [GO:0045648]; regulation of interferon-gamma production [GO:0032649]; response to type I interferon [GO:0034340]; translesion synthesis [GO:0019985]; type I interferon signaling pathway [GO:0060337]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22859821}. Secreted {ECO:0000269|PubMed:22859821}. Note=Exists in three distinct states: free within the cell, released into the extracellular space, or conjugated to target proteins.


uniprotID: P00995
geneSymbol: SPINK1
pdb: 1CGI;1CGJ;1HPT;
sequence: MKVTGIFLLSALALLSLSGNTGADSLGREAKCYNELNGCTKIYDPVCGTDGNTYPNECVLCFENRKRQTSILIQKSGPC
length: 79
go: ENSG00000164266;
snps: rs35877720 rs104893939 rs17107315 rs111966833 rs35523678
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:7142173}.
name:
Serine protease inhibitor Kazal-type 1 (Pancreatic secretory trypsin inhibitor) (Tumor-associated trypsin inhibitor) (TATI)

opentargets:
extracellular exosome [GO:0070062]; endopeptidase inhibitor activity [GO:0004866]; serine-type endopeptidase inhibitor activity [GO:0004867]; negative regulation of calcium ion import [GO:0090281]; negative regulation of nitric oxide mediated signal transduction [GO:0010751]; negative regulation of peptidyl-tyrosine phosphorylation [GO:0050732]; negative regulation of serine-type endopeptidase activity [GO:1900004]; regulation of acrosome reaction [GO:0060046]; regulation of store-operated calcium entry [GO:2001256]; sperm capacitation [GO:0048240]


uniprotID: Q6UWN8
geneSymbol: SPINK6
reactome: R-HSA-6809371;
pdb: 2N52;
name: Serine protease inhibitor Kazal-type 6 (Kallikrein inhibitor)
sequence: MKLSGMFLLLSLALFCFLTGVFSQGGQVDCGEFQDPKVYCTRESNPHCGSDGQTYGNKCAFCKAIVKSGGKISLKHPGKC
length: 80
go: ENSG00000178172;
drug: DB02107;
snps: rs12186491
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:Q8BT20}.
opentargets:
extracellular region [GO:0005576]; serine-type endopeptidase inhibitor activity [GO:0004867]; cornification [GO:0070268]; negative regulation of serine-type endopeptidase activity [GO:1900004]


uniprotID: P17693
geneSymbol: HLA-G
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
pdb: 1YDP;2D31;2DYP;3BZE;3CDG;3CII;3KYN;3KYO;
name: HLA class I histocompatibility antigen, alpha chain G (HLA G antigen) (MHC class I antigen G)
length: 338
go: ENSG00000204632;
sequence:

opentargets:
early endosome membrane [GO:0031901]; ER to Golgi transport vesicle membrane [GO:0012507]; extracellular region [GO:0005576]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; membrane [GO:0016020]; MHC class I protein complex [GO:0042612]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; identical protein binding [GO:0042802]; peptide antigen binding [GO:0042605]; protein homodimerization activity [GO:0042803]; signaling receptor binding [GO:0005102]; antigen processing and presentation of endogenous peptide antigen via MHC class Ib [GO:0002476]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent [GO:0002480]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; cellular defense response [GO:0006968]; immune response [GO:0006955]; immune response-inhibiting cell surface receptor signaling pathway [GO:0002767]; interferon-gamma-mediated signaling pathway [GO:0060333]; negative regulation of dendritic cell differentiation [GO:2001199]; negative regulation of immune response [GO:0050777]; negative regulation of T cell proliferation [GO:0042130]; positive regulation of interleukin-12 production [GO:0032735]; positive regulation of regulatory T cell differentiation [GO:0045591]; positive regulation of T cell mediated cytotoxicity [GO:0001916]; positive regulation of T cell tolerance induction [GO:0002666]; positive regulation of tolerance induction [GO:0002645]; regulation of immune response [GO:0050776]; type I interferon signaling pathway [GO:0060337]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; Synonyms=HLA-G1 {ECO:0000303|PubMed:1570318}; IsoId=P17693-1; Sequence=Displayed; Name=2; Synonyms=HLA-G2 {ECO:0000303|PubMed:1570318}; IsoId=P17693-2; Sequence=VSP_059192, VSP_059195; Name=3; Synonyms=HLA-G3 {ECO:0000303|PubMed:1570318}; IsoId=P17693-3; Sequence=VSP_059191; Name=4; Synonyms=HLA-G.3-5 {ECO:0000303|PubMed:8183892}, HLA-G4 {ECO:0000303|PubMed:7589701}; IsoId=P17693-4; Sequence=VSP_059196; Name=5; Synonyms=HLA-G1sol {ECO:0000303|PubMed:7989753}, HLA-G5 {ECO:0000303|PubMed:7558941}; IsoId=P17693-5; Sequence=VSP_059197; Name=6; Synonyms=HLA-G2sol {ECO:0000303|PubMed:7989753}, HLA-G6 {ECO:0000303|PubMed:11137219}; IsoId=P17693-6; Sequence=VSP_059192, VSP_059195, VSP_059197; Name=7; Synonyms=HLA-G7 {ECO:0000303|PubMed:11137219}; IsoId=P17693-7; Sequence=VSP_059193, VSP_059194; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000255}.; SUBCELLULAR LOCATION: Isoform 2: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000255}.; SUBCELLULAR LOCATION: Isoform 3: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000255}.; SUBCELLULAR LOCATION: Isoform 4: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000255}.; SUBCELLULAR LOCATION: Isoform 5: Secreted {ECO:0000269|PubMed:11137219, ECO:0000269|PubMed:7558941}.; SUBCELLULAR LOCATION: Isoform 6: Secreted {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 7: Secreted {ECO:0000305}.


uniprotID: Q6NT76
geneSymbol: HMBOX1
pdb: 2CUF;4J19;
length: 420
go: ENSG00000147421;
name:
Homeobox-containing protein 1 (Homeobox telomere-binding protein 1) (Telomere-associated homeobox-containing protein 1)

sequence:

opentargets:
Cajal body [GO:0015030]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear body [GO:0016604]; nuclear chromosome, telomeric region [GO:0000784]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; double-stranded telomeric DNA binding [GO:0003691]; identical protein binding [GO:0042802]; protein-containing complex binding [GO:0044877]; sequence-specific DNA binding [GO:0043565]; telomeric DNA binding [GO:0042162]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of chromatin binding [GO:0035563]; positive regulation of telomerase activity [GO:0051973]; positive regulation of telomere maintenance via telomerase [GO:0032212]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of telomerase activity [GO:0051972]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=HMBOX1A; IsoId=Q6NT76-1; Sequence=Displayed; Name=2; IsoId=Q6NT76-2; Sequence=VSP_018112, VSP_018113; Name=3; IsoId=Q6NT76-3; Sequence=VSP_018111; Name=4; Synonyms=HMBOX1b; IsoId=Q6NT76-4; Sequence=VSP_038983, VSP_038984; Name=5; IsoId=Q6NT76-5; Sequence=VSP_018112, VSP_038985; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16825764, ECO:0000269|PubMed:19728927}. Cytoplasm {ECO:0000269|PubMed:16825764, ECO:0000269|PubMed:19728927}. Chromosome, telomere {ECO:0000269|PubMed:23685356, ECO:0000269|PubMed:23813958}. Nucleus, Cajal body {ECO:0000269|PubMed:23685356}. Nucleus, PML body {ECO:0000269|PubMed:23813958}. Note=Predominantly detected in cytoplasm (PubMed:16825764, PubMed:19728927). Localizes in a dynamic manner to actively processed telomeres (PubMed:23685356). Localizes to the periphery of Cajal bodies (PubMed:23685356). Associates with PML nuclear bodies in telomerase-negative cells (PubMed:23813958). {ECO:0000269|PubMed:16825764, ECO:0000269|PubMed:19728927, ECO:0000269|PubMed:23685356, ECO:0000269|PubMed:23813958}.; SUBCELLULAR LOCATION: Isoform 5: Nucleus {ECO:0000269|PubMed:19757162}. Cytoplasm {ECO:0000269|PubMed:19757162}.


uniprotID: P48200
geneSymbol: IREB2
reactome: R-HSA-917937;
name: Iron-responsive element-binding protein 2 (IRE-BP 2) (Iron regulatory protein 2) (IRP2)
length: 963
go: ENSG00000136381;
snps: rs2230940
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrion [GO:0005739]; 4 iron, 4 sulfur cluster binding [GO:0051539]; aconitate hydratase activity [GO:0003994]; iron-responsive element binding [GO:0030350]; metal ion binding [GO:0046872]; regulatory region RNA binding [GO:0001069]; RNA binding [GO:0003723]; translation repressor activity [GO:0030371]; aging [GO:0007568]; brain development [GO:0007420]; cellular iron ion homeostasis [GO:0006879]; cellular response to epidermal growth factor stimulus [GO:0071364]; cellular response to hypoxia [GO:0071456]; cellular response to iron(III) ion [GO:0071283]; cellular response to manganese ion [GO:0071287]; cellular response to mercaptoethanol [GO:0072705]; cellular response to oxygen-glucose deprivation [GO:0090650]; cellular response to retinoic acid [GO:0071300]; citrate metabolic process [GO:0006101]; erythrocyte homeostasis [GO:0034101]; iron ion transport [GO:0006826]; negative regulation of translation [GO:0017148]; osteoclast differentiation [GO:0030316]; post-embryonic development [GO:0009791]; protoporphyrinogen IX biosynthetic process [GO:0006782]; regulation of translation [GO:0006417]; response to activity [GO:0014823]; response to copper ion [GO:0046688]; response to hypobaric hypoxia [GO:1990910]; response to iron(II) ion [GO:0010040]; response to iron(III) ion [GO:0010041]; response to kainic acid [GO:1904373]; response to retinoic acid [GO:0032526]; response to zinc ion [GO:0010043]; skeletal muscle atrophy [GO:0014732]; tricarboxylic acid cycle [GO:0006099]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P48200-1; Sequence=Displayed; Name=2; IsoId=P48200-2; Sequence=VSP_056823, VSP_056824; 


uniprotID: P10914
geneSymbol: IRF1
reactome: R-HSA-877300;R-HSA-909733;R-HSA-983231;
name: Interferon regulatory factor 1 (IRF-1)
length: 325
go: ENSG00000125347;
snps: rs121912469 rs121912470
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; apoptotic process [GO:0006915]; blood coagulation [GO:0007596]; CD8-positive, alpha-beta T cell differentiation [GO:0043374]; cell cycle arrest [GO:0007050]; cellular response to interferon-beta [GO:0035458]; cellular response to mechanical stimulus [GO:0071260]; defense response to virus [GO:0051607]; interferon-gamma-mediated signaling pathway [GO:0060333]; negative regulation of cell proliferation [GO:0008285]; negative regulation of regulatory T cell differentiation [GO:0045590]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of interferon-beta production [GO:0032728]; positive regulation of interleukin-12 biosynthetic process [GO:0045084]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of type I interferon production [GO:0032481]; regulation of adaptive immune response [GO:0002819]; regulation of CD8-positive, alpha-beta T cell proliferation [GO:2000564]; regulation of cell cycle [GO:0051726]; regulation of innate immune response [GO:0045088]; regulation of MyD88-dependent toll-like receptor signaling pathway [GO:0034124]; transcription by RNA polymerase II [GO:0006366]; type I interferon signaling pathway [GO:0060337]

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=MYD88-associated IRF1 migrates into the nucleus more efficiently than non-MYD88-associated IRF1.


uniprotID: Q14653
geneSymbol: IRF3
pdb: 1J2F;1QWT;1T2K;1ZOQ;2O61;2O6G;2PI0;3A77;3QU6;5JEJ;5JEK;5JEL;5JEM;5JEO;5JER;
name: Interferon regulatory factor 3 (IRF-3)
length: 427
go: ENSG00000126456;
snps: rs968457 rs34745118 rs750526659 rs1049486 rs7251
reactome:
R-HSA-1169408;R-HSA-1606341;R-HSA-3134973;R-HSA-3134975;R-HSA-3270619;R-HSA-877300;R-HSA-9013973;R-HSA-909733;R-HSA-918233;R-HSA-933541;R-HSA-936440;R-HSA-936964;

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; 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]; identical protein binding [GO:0042802]; protein domain specific binding [GO:0019904]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; transcription coregulator activity [GO:0003712]; apoptotic process [GO:0006915]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to dsRNA [GO:0071359]; defense response to virus [GO:0051607]; interferon-gamma-mediated signaling pathway [GO:0060333]; lipopolysaccharide-mediated signaling pathway [GO:0031663]; macrophage apoptotic process [GO:0071888]; MDA-5 signaling pathway [GO:0039530]; negative regulation of type I interferon production [GO:0032480]; positive regulation of cytokine secretion [GO:0050715]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of interferon-alpha production [GO:0032727]; positive regulation of interferon-beta production [GO:0032728]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of type I interferon production [GO:0032481]; positive regulation of type I interferon-mediated signaling pathway [GO:0060340]; programmed necrotic cell death [GO:0097300]; regulation of type I interferon production [GO:0032479]; response to exogenous dsRNA [GO:0043330]; transcription by RNA polymerase II [GO:0006366]; TRIF-dependent toll-like receptor signaling pathway [GO:0035666]; type I interferon biosynthetic process [GO:0045351]; type I interferon signaling pathway [GO:0060337]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q14653-1; Sequence=Displayed; Name=2; IsoId=Q14653-2; Sequence=VSP_043319; Name=3; IsoId=Q14653-3; Sequence=VSP_046911, VSP_043319; Name=4; IsoId=Q14653-4; Sequence=VSP_046912; Note=No experimental confirmation available.; Name=5; IsoId=Q14653-5; Sequence=VSP_047690, VSP_047691; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10805757}. Nucleus {ECO:0000269|PubMed:10805757}. Note=Shuttles between cytoplasmic and nuclear compartments, with export being the prevailing effect. When activated, IRF3 interaction with CREBBP prevents its export to the cytoplasm.


uniprotID: O14896
geneSymbol: IRF6
reactome: R-HSA-877300;R-HSA-909733;
name: Interferon regulatory factor 6 (IRF-6)
length: 467
go: ENSG00000117595;
sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; transcription regulatory region DNA binding [GO:0044212]; cell cycle arrest [GO:0007050]; cell development [GO:0048468]; interferon-gamma-mediated signaling pathway [GO:0060333]; keratinocyte differentiation [GO:0030216]; keratinocyte proliferation [GO:0043616]; mammary gland epithelial cell differentiation [GO:0060644]; negative regulation of cell proliferation [GO:0008285]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; type I interferon signaling pathway [GO:0060337]

snps:
rs28942093 rs28942094 rs387906967 rs121434229 rs776236749 rs886039388 rs121434226 rs121434227 rs121434227 rs2235371 rs121434231 rs121434230 rs28942095 rs387906968 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O14896-1; Sequence=Displayed; Name=2; IsoId=O14896-2; Sequence=VSP_046435; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}. Cytoplasm {ECO:0000269|PubMed:16049006, ECO:0000269|PubMed:18212048}. Note=Translocates to nucleus in response to an activating signal. {ECO:0000250}.


uniprotID: Q00978
geneSymbol: IRF9
reactome: R-HSA-877300;R-HSA-909733;
length: 393
go: ENSG00000213928;
name:
Interferon regulatory factor 9 (IRF-9) (IFN-alpha-responsive transcription factor subunit) (ISGF3 p48 subunit) (Interferon-stimulated gene factor 3 gamma) (ISGF-3 gamma) (Transcriptional regulator ISGF3 subunit gamma)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; 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]; cell surface receptor signaling pathway [GO:0007166]; defense response to virus [GO:0051607]; interferon-gamma-mediated signaling pathway [GO:0060333]; transcription by RNA polymerase II [GO:0006366]; type I interferon signaling pathway [GO:0060337]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11846981}. Nucleus {ECO:0000269|PubMed:11846981}. Note=Translocated into the nucleus upon activation by IFN-alpha/beta.


uniprotID: O60575
geneSymbol: SPINK4
name: Serine protease inhibitor Kazal-type 4 (Peptide PEC-60 homolog)
sequence: MAVRQWVIALALAALLVVDREVPVAAGKLPFSRMPICEHMVESPTCSQMSNLVCGTDGLTYTNECQLCLARIKTKQDIQIMKDGKC
length: 86
go: ENSG00000122711;
snps: rs706107
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
opentargets:
extracellular region [GO:0005576]; serine-type endopeptidase inhibitor activity [GO:0004867]; response to drug [GO:0042493]


uniprotID: Q5DT21
geneSymbol: SPINK9
reactome: R-HSA-6809371;
name: Serine protease inhibitor Kazal-type 9 (Lymphoepithelial Kazal-type-related inhibitor 2)
sequence: MRATAIVLLLALTLATMFSIECAKQTKQMVDCSHYKKLPPGQQRFCHHMYDPICGSDGKTYKNDCFFCSKVKKTDGTLKFVHFGKC
length: 86
go: ENSG00000204909;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
opentargets:
extracellular region [GO:0005576]; serine-type endopeptidase inhibitor activity [GO:0004867]; cornification [GO:0070268]


uniprotID: Q6UXK2
geneSymbol: ISLR2
length: 745
go: ENSG00000167178;
snps: rs3889598
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}.
name:
Immunoglobulin superfamily containing leucine-rich repeat protein 2 (Leucine-rich repeat domain and immunoglobulin domain-containing axon extension protein)

sequence:

opentargets:
cell surface [GO:0009986]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; positive regulation of axon extension [GO:0045773]


uniprotID: P30511
geneSymbol: HLA-F
reactome: R-HSA-1236974;R-HSA-1236977;R-HSA-198933;R-HSA-877300;R-HSA-909733;R-HSA-983170;
pdb: 5IUE;5KNM;
length: 346
go: ENSG00000204642;
snps: rs17875379 rs17875380 rs1736924
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
HLA class I histocompatibility antigen, alpha chain F (CDA12) (HLA F antigen) (Leukocyte antigen F) (MHC class I antigen F)

sequence:

opentargets:
cell surface [GO:0009986]; early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; membrane [GO:0016020]; MHC class I protein complex [GO:0042612]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; peptide antigen binding [GO:0042605]; signaling receptor binding [GO:0005102]; TAP1 binding [GO:0046978]; TAP2 binding [GO:0046979]; antigen processing and presentation of endogenous peptide antigen via MHC class Ib [GO:0002476]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent [GO:0002480]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; immune response [GO:0006955]; interferon-gamma-mediated signaling pathway [GO:0060333]; positive regulation of T cell mediated cytotoxicity [GO:0001916]; regulation of immune response [GO:0050776]; type I interferon signaling pathway [GO:0060337]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P30511-1; Sequence=Displayed; Name=2; IsoId=P30511-2; Sequence=VSP_038846; Name=3; IsoId=P30511-3; Sequence=VSP_040349; 


uniprotID: Q14774
geneSymbol: HLX
name: H2.0-like homeobox protein (Homeobox protein HB24) (Homeobox protein HLX1)
length: 488
go: ENSG00000136630;
snps: rs12141189 rs2738755 rs11578466
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; cell differentiation [GO:0030154]; embryonic digestive tract morphogenesis [GO:0048557]; enteric nervous system development [GO:0048484]; liver development [GO:0001889]; multicellular organism development [GO:0007275]; negative regulation of T-helper 2 cell differentiation [GO:0045629]; positive regulation of cell proliferation [GO:0008284]; positive regulation of organ growth [GO:0046622]; positive regulation of T-helper 1 cell differentiation [GO:0045627]; skeletal muscle tissue development [GO:0007519]


uniprotID: P0C870
geneSymbol: JMJD7
pdb: 5NFN;5NFO;
name: JmjC domain-containing protein 7 (Jumonji domain-containing protein 7)
length: 316
snps: rs7174710
sequence:


uniprotID: P26583
geneSymbol: HMGB2
reactome: R-HSA-211227;
name: High mobility group protein B2 (High mobility group protein 2) (HMG-2)
length: 209
go: ENSG00000164104;
sequence:

opentargets:
cell [GO:0005623]; condensed chromosome [GO:0000793]; cytoplasm [GO:0005737]; extracellular space [GO:0005615]; nuclear chromatin [GO:0000790]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; protein-containing complex [GO:0032991]; chemoattractant activity [GO:0042056]; damaged DNA binding [GO:0003684]; DNA binding [GO:0003677]; DNA binding, bending [GO:0008301]; DNA-binding transcription factor activity [GO:0003700]; double-stranded DNA binding [GO:0003690]; drug binding [GO:0008144]; enhancer sequence-specific DNA binding [GO:0001158]; four-way junction DNA binding [GO:0000400]; non-sequence-specific DNA binding, bending [GO:0044378]; protein domain specific binding [GO:0019904]; RAGE receptor binding [GO:0050786]; RNA binding [GO:0003723]; single-stranded DNA binding [GO:0003697]; supercoiled DNA binding [GO:0097100]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; apoptotic DNA fragmentation [GO:0006309]; cell chemotaxis [GO:0060326]; cellular response to lipopolysaccharide [GO:0071222]; chromatin organization [GO:0006325]; chromatin remodeling [GO:0006338]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; DNA geometric change [GO:0032392]; DNA ligation involved in DNA repair [GO:0051103]; DNA recombination [GO:0006310]; DNA topological change [GO:0006265]; inflammatory response to antigenic stimulus [GO:0002437]; innate immune response [GO:0045087]; male gonad development [GO:0008584]; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902042]; negative regulation of transcription, DNA-templated [GO:0045892]; nucleosome assembly [GO:0006334]; positive regulation of DNA binding [GO:0043388]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of erythrocyte differentiation [GO:0045648]; positive regulation of innate immune response [GO:0045089]; positive regulation of interferon-beta production [GO:0032728]; positive regulation of megakaryocyte differentiation [GO:0045654]; positive regulation of nuclease activity [GO:0032075]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of neurogenesis [GO:0050767]; regulation of stem cell proliferation [GO:0072091]; regulation of transcription by RNA polymerase II [GO:0006357]; response to drug [GO:0042493]; response to lipopolysaccharide [GO:0032496]; response to steroid hormone [GO:0048545]; spermatid nucleus differentiation [GO:0007289]; V(D)J recombination [GO:0033151]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11909973, ECO:0000269|PubMed:12925773, ECO:0000269|PubMed:23877675}. Chromosome {ECO:0000269|PubMed:12925773}. Cytoplasm {ECO:0000269|PubMed:11909973, ECO:0000269|PubMed:23877675}. Secreted {ECO:0000269|PubMed:19811285, ECO:0000269|PubMed:23877675}. Note=In basal state predominantly nuclear. {ECO:0000305}.


uniprotID: P20823
geneSymbol: HNF1A
reactome: R-HSA-210745;
pdb: 1IC8;2GYP;
length: 631
go: ENSG00000135100;
drug: DB04419;
snps: rs1169288 rs1800574 rs2464196 rs1169305
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000269|PubMed:10966642}.
name:
Hepatocyte nuclear factor 1-alpha (HNF-1-alpha) (HNF-1A) (Liver-specific transcription factor LF-B1) (LFB1) (Transcription factor 1) (TCF-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; transcription regulatory region DNA binding [GO:0044212]; glucose homeostasis [GO:0042593]; glucose import [GO:0046323]; insulin secretion [GO:0030073]; liver development [GO:0001889]; natural killer cell differentiation [GO:0001779]; pancreas development [GO:0031016]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription initiation from RNA polymerase II promoter [GO:0060261]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of transcription by RNA polymerase II [GO:0006357]; renal glucose absorption [GO:0035623]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=A; IsoId=P20823-1; Sequence=Displayed; Name=B; IsoId=P20823-2; Sequence=VSP_002250, VSP_002251; Name=C; IsoId=P20823-3; Sequence=VSP_002252, VSP_002253; Name=4; IsoId=P20823-4; Sequence=VSP_047736, VSP_047739; Name=5; IsoId=P20823-5; Sequence=VSP_047737, VSP_047738; Name=6; IsoId=P20823-6; Sequence=VSP_053324, VSP_053325, VSP_053326; Name=7; Synonyms=insIVS8; IsoId=P20823-7; Sequence=VSP_054302; Note=Due to intron retention. {ECO:0000305}; Name=8; Synonyms=delta 2; IsoId=P20823-8; Sequence=VSP_054300, VSP_054301; Note=No experimental confirmation available.; 


uniprotID: Q10471
geneSymbol: GALNT2
reactome: R-HSA-6811436;R-HSA-913709;
pdb: 2FFU;2FFV;4D0T;4D0Z;4D11;5AJN;5AJO;5AJP;5FV9;5NDF;6EGS;
length: 571
go: ENSG00000143641;
snps: rs1923950 rs2273970
name:
Polypeptide N-acetylgalactosaminyltransferase 2 (EC 2.4.1.41) (Polypeptide GalNAc transferase 2) (GalNAc-T2) (pp-GaNTase 2) (Protein-UDP acetylgalactosaminyltransferase 2) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 2) [Cleaved into: Polypeptide N-acetylgalactosaminyltransferase 2 soluble form]

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; extracellular region [GO:0005576]; Golgi apparatus [GO:0005794]; Golgi cisterna membrane [GO:0032580]; Golgi membrane [GO:0000139]; Golgi stack [GO:0005795]; integral component of Golgi membrane [GO:0030173]; membrane [GO:0016020]; perinuclear region of cytoplasm [GO:0048471]; carbohydrate binding [GO:0030246]; manganese ion binding [GO:0030145]; polypeptide N-acetylgalactosaminyltransferase activity [GO:0004653]; immunoglobulin biosynthetic process [GO:0002378]; O-glycan processing [GO:0016266]; protein O-linked glycosylation [GO:0006493]; protein O-linked glycosylation via serine [GO:0018242]; protein O-linked glycosylation via threonine [GO:0018243]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q10471-1; Sequence=Displayed; Name=2; IsoId=Q10471-2; Sequence=VSP_056491, VSP_056492, VSP_056493; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane {ECO:0000269|PubMed:9394011}; Single-pass type II membrane protein {ECO:0000269|PubMed:9394011}. Secreted {ECO:0000269|PubMed:9394011}. Note=Resides preferentially in the trans and medial parts of the Golgi stack. A secreted form also exists.


uniprotID: Q4V326
geneSymbol: GAGE2E
name: G antigen 2E (GAGE-2E)
length: 110
sequence:
MSWRGRSTYYWPRPRRYVQPPEMIGPMRPEQFSDEVEPATPEEGEPATQRQDPAAAQEGEDEGASAGQGPKPEAHSQEQGHPQTGCECEDGPDGQEMDPPNPEEVKTPEE


uniprotID: Q8TEQ6
geneSymbol: GEMIN5
reactome: R-HSA-191859;
pdb: 5GXH;5GXI;5H1J;5H1K;5H1L;5H1M;5H3S;5H3T;5H3U;5TEE;5TEF;5THA;
name: Gem-associated protein 5 (Gemin5)
length: 1508
go: ENSG00000082516;
snps: rs1974777 rs6865950
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; Gemini of coiled bodies [GO:0097504]; membrane [GO:0016020]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; SMN complex [GO:0032797]; SMN-Gemin2 complex [GO:0034718]; SMN-Sm protein complex [GO:0034719]; mRNA 3'-UTR binding [GO:0003730]; ribosome binding [GO:0043022]; RNA 7-methylguanosine cap binding [GO:0000340]; RNA binding [GO:0003723]; snRNA binding [GO:0017069]; U1 snRNA binding [GO:0030619]; U4 snRNA binding [GO:0030621]; U4atac snRNA binding [GO:0030622]; import into nucleus [GO:0051170]; mRNA splicing, via spliceosome [GO:0000398]; protein-containing complex assembly [GO:0065003]; regulation of translation [GO:0006417]; spliceosomal snRNP assembly [GO:0000387]; translation [GO:0006412]

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:11714716}. Nucleus, gem {ECO:0000269|PubMed:11714716}. Cytoplasm {ECO:0000269|PubMed:11714716, ECO:0000269|PubMed:19750007, ECO:0000269|PubMed:20513430, ECO:0000269|PubMed:25911097, ECO:0000269|PubMed:27507887}. Note=Found both in the nucleoplasm and in nuclear bodies called gems (Gemini of Cajal bodies) that are often in proximity to Cajal (coiled) bodies. Also found in the cytoplasm. {ECO:0000269|PubMed:11714716}.


uniprotID: O14908
geneSymbol: GIPC1
length: 333
go: ENSG00000123159;
location: SUBCELLULAR LOCATION: Cytoplasm. Membrane; Peripheral membrane protein.
name:
PDZ domain-containing protein GIPC1 (GAIP C-terminus-interacting protein) (RGS-GAIP-interacting protein) (RGS19-interacting protein 1) (Synectin) (Tax interaction protein 2) (TIP-2)

sequence:

opentargets:
brush border [GO:0005903]; cell cortex [GO:0005938]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; dendritic shaft [GO:0043198]; dendritic spine [GO:0043197]; endocytic vesicle [GO:0030139]; extracellular exosome [GO:0070062]; glutamatergic synapse [GO:0098978]; membrane [GO:0016020]; Schaffer collateral - CA1 synapse [GO:0098685]; synaptic vesicle [GO:0008021]; vesicle membrane [GO:0012506]; actin binding [GO:0003779]; cadherin binding [GO:0045296]; myosin binding [GO:0017022]; PDZ domain binding [GO:0030165]; protein homodimerization activity [GO:0042803]; signaling receptor binding [GO:0005102]; chemical synaptic transmission [GO:0007268]; endothelial cell migration [GO:0043542]; G protein-coupled receptor signaling pathway [GO:0007186]; glutamate secretion [GO:0014047]; negative regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032435]; positive regulation of cytokinesis [GO:0032467]; positive regulation of transforming growth factor beta receptor signaling pathway [GO:0030511]; protein targeting [GO:0006605]; regulation of protein stability [GO:0031647]; regulation of synaptic plasticity [GO:0048167]; regulation of synaptic vesicle exocytosis [GO:2000300]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O14908-1; Sequence=Displayed; Name=2; IsoId=O14908-2; Sequence=VSP_044296; 


uniprotID: Q02153
geneSymbol: GUCY1B1
reactome: R-HSA-392154;
pdb: 2WZ1;3UVJ;4NI2;5MNW;
length: 619
go: ENSG00000061918;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P16068}.
name:
Guanylate cyclase soluble subunit beta-1 (GCS-beta-1) (EC 4.6.1.2) (Guanylate cyclase soluble subunit beta-3) (GCS-beta-3) (Soluble guanylate cyclase small subunit)

sequence:

opentargets:
guanylate cyclase complex, soluble [GO:0008074]; presynaptic active zone [GO:0048786]; GTP binding [GO:0005525]; guanylate cyclase activity [GO:0004383]; heme binding [GO:0020037]; metal ion binding [GO:0046872]; signaling receptor activity [GO:0038023]; blood circulation [GO:0008015]; cellular response to nitric oxide [GO:0071732]; cGMP biosynthetic process [GO:0006182]; cGMP-mediated signaling [GO:0019934]; nitric oxide mediated signal transduction [GO:0007263]; nitric oxide-cGMP-mediated signaling pathway [GO:0038060]; trans-synaptic signaling by nitric oxide, modulating synaptic transmission [GO:0099555]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=HSGC-1; IsoId=Q02153-1; Sequence=Displayed; Name=HSGC-2; IsoId=Q02153-2; Sequence=VSP_001813; Name=3; IsoId=Q02153-3; Sequence=VSP_054365; Note=No experimental confirmation available.; 


uniprotID: A6NEM1
geneSymbol: GOLGA6L9
name: Golgin subfamily A member 6-like protein 9
length: 432
opentargets: Golgi apparatus [GO:0005794]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A6NEM1-1; Sequence=Displayed; Name=2; IsoId=A6NEM1-2; Sequence=VSP_033754; Note=No experimental confirmation available.; 


uniprotID: P01772
geneSymbol: IGHV3-33
pdb: 2FB4;2IG2;2RCJ;
length: 117
go: ENSG00000211955;
name:
Immunoglobulin heavy variable 3-33 (Ig heavy chain V-III region HIL) (Ig heavy chain V-III region KOL)

sequence:
MEFGLSWVFLVALLRGVQCQVQLVESGGGVVQPGRSLRLSCAASGFTFSSYGMHWVRQAPGKGLEWVAVIWYDGSNKYYADSVKGRFTISRDNSKNTLYLQMNSLRAEDTAVYYCAR


uniprotID: A0A075B6R2
geneSymbol: IGHV4-4
name: Immunoglobulin heavy variable 4-4
length: 117
go: ENSG00000276775;
sequence:
MKHLWFFLLLVAAPRWVLSQVQLQESGPGLVKPSGTLSLTCAVSGGSISSSNWWSWVRQPPGKGLEWIGEIYHSGSTNYNPSLKSRVTISVDKSKNQFSLKLSSVTAADTAVYYCAR


uniprotID: Q6ZMI3
geneSymbol: GLDN
name: Gliomedin [Cleaved into: Gliomedin shedded ectodomain]
length: 551
go: ENSG00000186417;
snps: rs779432560 rs17648128 rs17648128 rs35223886 rs764239923
sequence:

opentargets:
axon [GO:0030424]; collagen trimer [GO:0005581]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; protein binding involved in heterotypic cell-cell adhesion [GO:0086080]; clustering of voltage-gated sodium channels [GO:0045162]; microvillus organization [GO:0032528]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZMI3-1; Sequence=Displayed; Name=2; IsoId=Q6ZMI3-2; Sequence=VSP_019845; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q80WL1, ECO:0000269|PubMed:27616481}; Single-pass type II membrane protein {ECO:0000250|UniProtKB:Q80WL1}. Cell projection, axon {ECO:0000250|UniProtKB:Q80WL1}. Note=Detected at the nodes of Ranvier. Detected at immature heminodes. {ECO:0000250|UniProtKB:Q80WL1}.; SUBCELLULAR LOCATION: Gliomedin shedded ectodomain: Secreted {ECO:0000250|UniProtKB:Q80WL1}. Secreted, extracellular space, extracellular matrix {ECO:0000250|UniProtKB:Q80WL1}. Note=Proteolytic processing gives rise to a soluble extracellular domain that is secreted. The gliomedin shedded ectodomain localizes to the nodes of Ranvier. {ECO:0000250|UniProtKB:Q80WL1}.


uniprotID: Q86VQ1
geneSymbol: GLCCI1
name: Glucocorticoid-induced transcript 1 protein
length: 547
go: ENSG00000106415;
opentargets: cytoplasm [GO:0005737]
sequence:


uniprotID: P0DP08
geneSymbol: IGHV4-38-2
name: Immunoglobulin heavy variable 4-38-2
length: 117
sequence:
MKHLWFFLLLVAAPRWVLSQVQLQESGPGLVKPSETLSLTCTVSGYSISSGYYWGWIRQPPGKGLEWIGSIYHSGSTYYNPSLKSRVTISVDTSKNQFSLKLSSVTAADTAVYYCAR


uniprotID: Q04446
geneSymbol: GBE1
reactome: R-HSA-3322077;R-HSA-3878781;
pdb: 4BZY;5CLT;5CLW;
name: 1,4-alpha-glucan-branching enzyme (EC 2.4.1.18) (Brancher enzyme) (Glycogen-branching enzyme)
length: 702
go: ENSG00000114480;
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; 1,4-alpha-glucan branching enzyme activity [GO:0003844]; 1,4-alpha-glucan branching enzyme activity (using a glucosylated glycogenin as primer for glycogen synthesis) [GO:0102752]; cation binding [GO:0043169]; hydrolase activity, hydrolyzing O-glycosyl compounds [GO:0004553]; carbohydrate metabolic process [GO:0005975]; generation of precursor metabolites and energy [GO:0006091]; glycogen biosynthetic process [GO:0005978]; glycogen metabolic process [GO:0005977]

snps:
rs2229519 rs137852886 rs137852887 rs17856389 rs80338671 rs2172397 rs2228389 rs80338672 rs201958741 rs80338673 rs137852889 rs137852891 


uniprotID: O43365
geneSymbol: HOXA3
reactome: R-HSA-5617472;
name: Homeobox protein Hox-A3 (Homeobox protein Hox-1E)
length: 443
go: ENSG00000105997;
snps: rs764656757
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; HMG box domain binding [GO:0071837]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; angiogenesis [GO:0001525]; animal organ formation [GO:0048645]; anterior/posterior pattern specification [GO:0009952]; blood vessel remodeling [GO:0001974]; bone mineralization [GO:0030282]; calcium ion homeostasis [GO:0055074]; calcium ion transport [GO:0006816]; cartilage development [GO:0051216]; embryonic skeletal system morphogenesis [GO:0048704]; gene expression [GO:0010467]; glossopharyngeal nerve morphogenesis [GO:0021615]; magnesium ion homeostasis [GO:0010960]; negative regulation of calcium ion transport [GO:0051926]; parathyroid gland development [GO:0060017]; phosphate ion homeostasis [GO:0055062]; positive regulation of cell proliferation [GO:0008284]; positive regulation of receptor binding [GO:1900122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; specification of animal organ position [GO:0010159]; thymus development [GO:0048538]; thyroid gland development [GO:0030878]


uniprotID: Q00056
geneSymbol: HOXA4
reactome: R-HSA-5617472;
name: Homeobox protein Hox-A4 (Homeobox protein Hox-1.4) (Homeobox protein Hox-1D)
length: 320
go: ENSG00000197576;
snps: rs6944345 rs10251056 rs13246088 rs6976847 rs17500757
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nuclear body [GO:0016604]; nucleus [GO:0005634]; activating transcription factor binding [GO:0033613]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; anatomical structure morphogenesis [GO:0009653]; anterior/posterior pattern specification [GO:0009952]; embryonic skeletal system morphogenesis [GO:0048704]; skeletal system development [GO:0001501]


uniprotID: O43248
geneSymbol: HOXC11
name: Homeobox protein Hox-C11 (Homeobox protein Hox-3H)
length: 304
go: ENSG00000123388;
snps: rs34652380 rs12427129
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; anterior/posterior pattern specification [GO:0009952]; embryonic digit morphogenesis [GO:0042733]; embryonic skeletal joint morphogenesis [GO:0060272]; endoderm development [GO:0007492]; metanephros development [GO:0001656]; organ induction [GO:0001759]; positive regulation of transcription by RNA polymerase II [GO:0045944]; proximal/distal pattern formation [GO:0009954]


uniprotID: Q00444
geneSymbol: HOXC5
name: Homeobox protein Hox-C5 (Homeobox protein CP11) (Homeobox protein Hox-3D)
length: 222
go: ENSG00000172789;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cell junction [GO:0030054]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; anterior/posterior pattern specification [GO:0009952]; embryonic skeletal system development [GO:0048706]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: P31273
geneSymbol: HOXC8
name: Homeobox protein Hox-C8 (Homeobox protein Hox-3A)
length: 242
go: ENSG00000037965;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
microtubule cytoskeleton [GO:0015630]; nucleoplasm [GO:0005654]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; anterior/posterior pattern specification [GO:0009952]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neuron differentiation [GO:0030182]; skeletal system morphogenesis [GO:0048705]


uniprotID: P31274
geneSymbol: HOXC9
pdb: 2LP0;2MSY;
name: Homeobox protein Hox-C9 (Homeobox protein Hox-3B)
length: 260
go: ENSG00000180806;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
aggresome [GO:0016235]; nucleoplasm [GO:0005654]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; anterior/posterior pattern specification [GO:0009952]; embryonic skeletal system morphogenesis [GO:0048704]; transcription, DNA-templated [GO:0006351]


uniprotID: P35452
geneSymbol: HOXD12
name: Homeobox protein Hox-D12 (Homeobox protein Hox-4H)
length: 270
go: ENSG00000170178;
snps: rs35817516
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; embryonic digit morphogenesis [GO:0042733]; pattern specification process [GO:0007389]; skeletal system development [GO:0001501]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P35452-1; Sequence=Displayed; Name=2; IsoId=P35452-2; Sequence=VSP_056816; 


uniprotID: Q9GZZ0
geneSymbol: HOXD1
reactome: R-HSA-5617472;
name: Homeobox protein Hox-D1 (Homeobox protein Hox-GG)
length: 328
go: ENSG00000128645;
snps: rs6710142
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleoplasm [GO:0005654]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; embryonic skeletal system development [GO:0048706]; neuron differentiation [GO:0030182]; sensory perception of pain [GO:0019233]


uniprotID: Q9UBI6
geneSymbol: GNG12
name: Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12
sequence: MSSKTASTNNIAQARRTVQQLRLEASIERIKVSKASADLMSYCEEHARSDPLLIGIPTSENPFKDKKTCIIL
length: 72
go: ENSG00000172380;
opentargets:
actin filament [GO:0005884]; extracellular exosome [GO:0070062]; heterotrimeric G-protein complex [GO:0005834]; plasma membrane [GO:0005886]; GTPase activity [GO:0003924]; PDZ domain binding [GO:0030165]; phosphate ion binding [GO:0042301]; cerebral cortex development [GO:0021987]; G protein-coupled receptor signaling pathway [GO:0007186]; response to lipopolysaccharide [GO:0032496]; signal transduction [GO:0007165]


uniprotID: Q9P2W3
geneSymbol: GNG13
name: Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-13
sequence: MEEWDVPQMKKEVESLKYQLAFQREMASKTIPELLKWIEDGIPKDPFLNPDLMKNNPWVEKGKCTIL
length: 67
go: ENSG00000127588;
reactome:
R-HSA-163359;R-HSA-202040;R-HSA-381676;R-HSA-381771;R-HSA-392170;R-HSA-392451;R-HSA-392851;R-HSA-400042;R-HSA-4086398;R-HSA-416476;R-HSA-416482;R-HSA-418217;R-HSA-418555;R-HSA-418592;R-HSA-418594;R-HSA-418597;R-HSA-420092;R-HSA-428930;R-HSA-432040;R-HSA-456926;R-HSA-500657;R-HSA-6814122;

opentargets:
dendrite [GO:0030425]; heterotrimeric G-protein complex [GO:0005834]; plasma membrane [GO:0005886]; G-protein beta-subunit binding [GO:0031681]; GTPase activity [GO:0003924]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; sensory perception of taste [GO:0050909]


uniprotID: A0A1W2PPG7
geneSymbol: GNG14
name: Putative guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-14
sequence: MSSKVAINSDIGQALWAVEQLQMEAGIDQVKMAADLLKFCTEQAKNDPFLVGIPAATNSFKEKKPYAIL
length: 69
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}.
opentargets:
heterotrimeric G-protein complex [GO:0005834]; GTPase activity [GO:0003924]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: A0A0C4DH33
geneSymbol: IGHV1-24
name: Immunoglobulin heavy variable 1-24
length: 117
go: ENSG00000211950;
sequence:
MDCTWRILFLVAAATGTHAQVQLVQSGAEVKKPGASVKVSCKVSGYTLTELSMHWVRQAPGKGLEWMGGFDPEDGETIYAQKFQGRVTMTEDTSTDTAYMELSSLRSEDTAVYYCAT


uniprotID: P01817
geneSymbol: IGHV2-5
name: Immunoglobulin heavy variable 2-5 (Ig heavy chain V-II region HE) (Ig heavy chain V-II region MCE)
length: 119
go: ENSG00000211937;
sequence:
MDTLCSTLLLLTIPSWVLSQITLKESGPTLVKPTQTLTLTCTFSGFSLSTSGVGVGWIRQPPGKALEWLALIYWDDDKRYSPSLKSRLTITKDTSKNQVVLTMTNMDPVDTATYYCAHR


uniprotID: Q9NS71
geneSymbol: GKN1
name: Gastrokine-1 (18 kDa antrum mucosa protein) (AMP-18) (Protein CA11)
length: 199
go: ENSG00000169605;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:
MLAYSSVHCFREDKMKFTIVFAGLLGVFLAPALANYNINVNDDNNNAGSGQQSVSVNNEHNVANVDNNNGWDSWNSIWDYGNGFAATRLFQKKTCIVHKMNKEVMPSIQSLDALVKEKKLQGKGPGGPPPKGLMYSVNPNKVDDLSKFGKNIANMCRGIPTYMAEEMQEASLFFYSGTCYTTSVLWIVDISFCGDTVEN

opentargets:
extracellular space [GO:0005615]; digestion [GO:0007586]; positive regulation of cell division [GO:0051781]


uniprotID: P09681
geneSymbol: GIP
reactome: R-HSA-400511;R-HSA-418555;R-HSA-420092;
pdb: 1T5Q;2B4N;2L70;2L71;2OBU;2QKH;
length: 153
go: ENSG00000159224;
snps: rs2291725 rs35703924
location: SUBCELLULAR LOCATION: Secreted.
name:
Gastric inhibitory polypeptide (GIP) (Glucose-dependent insulinotropic polypeptide) (Incretin hormone)

sequence:
MVATKTFALLLLSLFLAVGLGEKKEGHFSALPSLPVGSHAKVSSPQPRGPRYAEGTFISDYSIAMDKIHQQDFVNWLLAQKGKKNDWKHNITQREARALELASQANRKEEEAVEPQSSPAKNPSDEDLLRDLLIQELLACLLDQTNLCRLRSR

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; neuronal cell body [GO:0043025]; secretory granule lumen [GO:0034774]; hormone activity [GO:0005179]; adult locomotory behavior [GO:0008344]; digestive system development [GO:0055123]; endocrine pancreas development [GO:0031018]; exploration behavior [GO:0035640]; female pregnancy [GO:0007565]; G protein-coupled receptor signaling pathway [GO:0007186]; long-term synaptic potentiation [GO:0060291]; memory [GO:0007613]; positive regulation of cAMP-mediated signaling [GO:0043950]; positive regulation of glucagon secretion [GO:0070094]; positive regulation of glucose transmembrane transport [GO:0010828]; positive regulation of insulin secretion [GO:0032024]; regulation of fatty acid biosynthetic process [GO:0042304]; regulation of insulin secretion [GO:0050796]; response to acidic pH [GO:0010447]; response to amino acid [GO:0043200]; response to axon injury [GO:0048678]; response to drug [GO:0042493]; response to glucose [GO:0009749]; response to lipid [GO:0033993]; response to organic cyclic compound [GO:0014070]; response to peptide hormone [GO:0043434]; response to selenium ion [GO:0010269]; response to starvation [GO:0042594]; sensory perception of pain [GO:0019233]; signal transduction [GO:0007165]; triglyceride homeostasis [GO:0070328]


uniprotID: P01766
geneSymbol: IGHV3-13
name: Immunoglobulin heavy variable 3-13 (Ig heavy chain V-III region BRO)
length: 116
go: ENSG00000211942;
sequence:
MELGLSWVFLVAILEGVQCEVQLVESGGGLVQPGGSLRLSCAASGFTFSSYDMHWVRQATGKGLEWVSAIGTAGDPYYPGSVKGRFTISRENAKNSLYLQMNSLRAGDTAVYYCAR

opentargets:
blood microparticle [GO:0072562]; external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; immunoglobulin complex, circulating [GO:0042571]; plasma membrane [GO:0005886]; antigen binding [GO:0003823]; immunoglobulin receptor binding [GO:0034987]; serine-type endopeptidase activity [GO:0004252]; B cell receptor signaling pathway [GO:0050853]; complement activation [GO:0006956]; complement activation, classical pathway [GO:0006958]; defense response to bacterium [GO:0042742]; Fc-epsilon receptor signaling pathway [GO:0038095]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; immune response [GO:0006955]; innate immune response [GO:0045087]; leukocyte migration [GO:0050900]; phagocytosis, engulfment [GO:0006911]; phagocytosis, recognition [GO:0006910]; positive regulation of B cell activation [GO:0050871]; receptor-mediated endocytosis [GO:0006898]; regulation of complement activation [GO:0030449]; regulation of immune response [GO:0050776]


uniprotID: A8MZA4
geneSymbol: GOLGA6L6
name: Golgin subfamily A member 6-like protein 6
length: 724
go: ENSG00000277322;
sequence:


uniprotID: Q14161
geneSymbol: GIT2
length: 759
go: ENSG00000139436;
snps: rs9804905 rs925368 rs11068997
name:
ARF GTPase-activating protein GIT2 (ARF GAP GIT2) (Cool-interacting tyrosine-phosphorylated protein 2) (CAT-2) (CAT2) (G protein-coupled receptor kinase-interactor 2) (GRK-interacting protein 2)

sequence:

opentargets:
focal adhesion [GO:0005925]; nucleoplasm [GO:0005654]; GTPase activator activity [GO:0005096]; metal ion binding [GO:0046872]; regulation of G protein-coupled receptor signaling pathway [GO:0008277]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=11;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q14161-1; Sequence=Displayed; Name=2; Synonyms=GIT2-short; IsoId=Q14161-2; Sequence=VSP_000303, VSP_000304; Name=3; Synonyms=C-; IsoId=Q14161-3; Sequence=VSP_000307; Name=4; Synonyms=BC-; IsoId=Q14161-4; Sequence=VSP_000306, VSP_000307; Name=5; Synonyms=E-; IsoId=Q14161-5; Sequence=VSP_000309; Name=6; Synonyms=CD-; IsoId=Q14161-6; Sequence=VSP_000307, VSP_000308; Name=7; Synonyms=DE-; IsoId=Q14161-7; Sequence=VSP_000308, VSP_000309; Name=8; Synonyms=BE-; IsoId=Q14161-8; Sequence=VSP_000306, VSP_000309; Name=9; Synonyms=AE-; IsoId=Q14161-9; Sequence=VSP_000305, VSP_000309; Name=10; IsoId=Q14161-10; Sequence=VSP_026456, VSP_008654, VSP_000309; Note=No experimental confirmation available.; Name=11; IsoId=Q14161-11; Sequence=VSP_000307, VSP_000308, VSP_000309; Note=No experimental confirmation available.; 


uniprotID: Q6PIY7
geneSymbol: TENT2
length: 484
go: ENSG00000164329;
name:
Poly(A) RNA polymerase GLD2 (hGLD-2) (EC 2.7.7.19) (PAP-associated domain-containing protein 4) (Terminal nucleotidyltransferase 2) (Terminal uridylyltransferase 2) (TUTase 2)

sequence:

opentargets:
cytosol [GO:0005829]; nuclear RNA-directed RNA polymerase complex [GO:0031380]; 5'-3' RNA polymerase activity [GO:0034062]; adenylyltransferase activity [GO:0070566]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; polynucleotide adenylyltransferase activity [GO:0004652]; dark adaptation [GO:1990603]; hematopoietic progenitor cell differentiation [GO:0002244]; hippocampus development [GO:0021766]; histone mRNA catabolic process [GO:0071044]; mRNA processing [GO:0006397]; negative regulation of miRNA catabolic process [GO:2000626]; neuron differentiation [GO:0030182]; retina development in camera-type eye [GO:0060041]; RNA polyadenylation [GO:0043631]; RNA stabilization [GO:0043489]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6PIY7-1; Sequence=Displayed; Name=2; IsoId=Q6PIY7-2; Sequence=VSP_034324; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q91YI6}. Nucleus {ECO:0000250|UniProtKB:Q91YI6}.


uniprotID: A0A0B4J1Y9
geneSymbol: IGHV3-72
name: Immunoglobulin heavy variable 3-72
length: 119
go: ENSG00000225698;
sequence:
MEFGLSWVFLVVILQGVQCEVQLVESGGGLVQPGGSLRLSCAASGFTFSDHYMDWVRQAPGKGLEWVGRTRNKANSYTTEYAASVKGRFTISRDDSKNSLYLQMNSLKTEDTAVYYCAR


uniprotID: P01824
geneSymbol: IGHV4-39
pdb: 1ZVO;
name: Immunoglobulin heavy variable 4-39 (Ig heavy chain V-II region WAH)
length: 125
go: ENSG00000211959;
sequence:
MDLMCKKMKHLWFFLLLVAAPRWVLSQLQLQESGPGLVKPSETLSLTCTVSGGSISSSSYYWGWIRQPPGKGLEWIGSIYYSGSTYYNPSLKSRVTISVDTSKNQFSLKLSSVTAADTAVYYCAR


uniprotID: O43364
geneSymbol: HOXA2
reactome: R-HSA-5617472;R-HSA-9010553;
name: Homeobox protein Hox-A2 (Homeobox protein Hox-1K)
length: 376
go: ENSG00000105996;
snps: rs119489104
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
intracellular membrane-bounded organelle [GO:0043231]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; anterior/posterior pattern specification [GO:0009952]; brain segmentation [GO:0035284]; cell fate determination [GO:0001709]; cellular response to retinoic acid [GO:0071300]; dorsal/ventral pattern formation [GO:0009953]; embryonic skeletal system morphogenesis [GO:0048704]; embryonic viscerocranium morphogenesis [GO:0048703]; middle ear morphogenesis [GO:0042474]; motor neuron axon guidance [GO:0008045]; negative regulation of neuron differentiation [GO:0045665]; negative regulation of osteoblast differentiation [GO:0045668]; negative regulation of transcription by RNA polymerase II [GO:0000122]; osteoblast development [GO:0002076]; positive regulation of transcription by RNA polymerase II [GO:0045944]; rhombomere 2 development [GO:0021568]; rhombomere 3 morphogenesis [GO:0021658]; segment specification [GO:0007379]


uniprotID: P31269
geneSymbol: HOXA9
name: Homeobox protein Hox-A9 (Homeobox protein Hox-1G)
length: 272
go: ENSG00000078399;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; enzyme binding [GO:0019899]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; anterior/posterior pattern specification [GO:0009952]; definitive hemopoiesis [GO:0060216]; embryonic forelimb morphogenesis [GO:0035115]; embryonic skeletal system development [GO:0048706]; endothelial cell activation [GO:0042118]; male gonad development [GO:0008584]; mammary gland development [GO:0030879]; multicellular organism development [GO:0007275]; negative regulation of myeloid cell differentiation [GO:0045638]; positive regulation of transcription by RNA polymerase II [GO:0045944]; proximal/distal pattern formation [GO:0009954]; single fertilization [GO:0007338]; spermatogenesis [GO:0007283]; transcription, DNA-templated [GO:0006351]; uterus development [GO:0060065]


uniprotID: Q96A47
geneSymbol: ISL2
name: Insulin gene enhancer protein ISL-2 (Islet-2)
length: 359
go: ENSG00000159556;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; sequence-specific DNA binding [GO:0043565]; negative regulation of neuron differentiation [GO:0045665]; neuron development [GO:0048666]; peripheral nervous system neuron development [GO:0048935]; retinal ganglion cell axon guidance [GO:0031290]; spinal cord motor neuron cell fate specification [GO:0021520]; visceral motor neuron differentiation [GO:0021524]


uniprotID: Q01581
geneSymbol: HMGCS1
reactome: R-HSA-191273;R-HSA-1989781;R-HSA-2426168;
pdb: 2P8U;
length: 520
go: ENSG00000112972;
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Hydroxymethylglutaryl-CoA synthase, cytoplasmic (HMG-CoA synthase) (EC 2.3.3.10) (3-hydroxy-3-methylglutaryl coenzyme A synthase)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; drug binding [GO:0008144]; hydroxymethylglutaryl-CoA synthase activity [GO:0004421]; isomerase activity [GO:0016853]; organic acid binding [GO:0043177]; protein homodimerization activity [GO:0042803]; acetyl-CoA metabolic process [GO:0006084]; brain development [GO:0007420]; cellular response to cholesterol [GO:0071397]; cellular response to follicle-stimulating hormone stimulus [GO:0071372]; cellular response to low-density lipoprotein particle stimulus [GO:0071404]; cholesterol biosynthetic process [GO:0006695]; farnesyl diphosphate biosynthetic process, mevalonate pathway [GO:0010142]; lipid metabolic process [GO:0006629]; liver development [GO:0001889]; male gonad development [GO:0008584]; regulation of cholesterol biosynthetic process [GO:0045540]; regulation of lipid metabolic process [GO:0019216]; response to drug [GO:0042493]; response to low light intensity stimulus [GO:0009645]; response to purine-containing compound [GO:0014074]; response to tellurium ion [GO:0046690]; response to vitamin E [GO:0033197]


uniprotID: P54868
geneSymbol: HMGCS2
reactome: R-HSA-1989781;R-HSA-77111;
pdb: 2WYA;
length: 508
go: ENSG00000134240;
snps: rs28937320 rs137852640 rs137852636 rs137852638 rs137852639
location: SUBCELLULAR LOCATION: Mitochondrion.
name:
Hydroxymethylglutaryl-CoA synthase, mitochondrial (HMG-CoA synthase) (EC 2.3.3.10) (3-hydroxy-3-methylglutaryl coenzyme A synthase)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; hydroxymethylglutaryl-CoA synthase activity [GO:0004421]; acetyl-CoA metabolic process [GO:0006084]; cholesterol biosynthetic process [GO:0006695]; farnesyl diphosphate biosynthetic process, mevalonate pathway [GO:0010142]; ketone body biosynthetic process [GO:0046951]; regulation of lipid metabolic process [GO:0019216]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P54868-1; Sequence=Displayed; Name=2; IsoId=P54868-2; Sequence=VSP_042892; Note=No experimental confirmation available.; Name=3; Synonyms=HMGCS2delta4; IsoId=P54868-3; Sequence=VSP_047445; 


uniprotID: Q95460
geneSymbol: MR1
length: 341
go: ENSG00000153029;
drug: DB00098;
snps: rs2236410 rs3897433 rs3897434
pdb:
4GUP;4L4T;4L4V;4LCW;4NQC;4NQD;4NQE;4PJ5;4PJ7;4PJ8;4PJ9;4PJA;4PJB;4PJC;4PJD;4PJE;4PJF;4PJG;4PJH;4PJI;4PJX;5D5M;5D7I;5D7J;5D7L;5U16;5U17;5U1R;5U2V;5U6Q;5U72;

name:
Major histocompatibility complex class I-related gene protein (MHC class I-related gene protein) (Class I histocompatibility antigen-like protein)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; MHC class I protein complex [GO:0042612]; plasma membrane [GO:0005886]; MHC class I receptor activity [GO:0032393]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; cytokine production involved in immune response [GO:0002367]; defense response to Gram-negative bacterium [GO:0050829]; immune response [GO:0006955]; innate immune response [GO:0045087]; interleukin-1 beta production [GO:0032611]; interleukin-17 production [GO:0032620]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=MR1A; IsoId=Q95460-1; Sequence=Displayed; Name=2; IsoId=Q95460-2; Sequence=VSP_034755; Name=3; Synonyms=MR1B, MR1D; IsoId=Q95460-3; Sequence=VSP_034757; Name=4; Synonyms=MR1C; IsoId=Q95460-4; Sequence=VSP_034756, VSP_034758; Name=5; IsoId=Q95460-5; Sequence=VSP_043479; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass membrane protein; Extracellular side. Endoplasmic reticulum.; SUBCELLULAR LOCATION: Isoform 4: Secreted.; SUBCELLULAR LOCATION: Isoform 3: Cell membrane {ECO:0000269|PubMed:23457030}; Single-pass type I membrane protein {ECO:0000269|PubMed:23457030}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:23457030}. Note=The larger proportion remains in the ER in an immature state. The subset that reach cell surface does it through a B2M-independent pathway.


uniprotID: P31943
geneSymbol: HNRNPH1
reactome: R-HSA-6803529;R-HSA-72163;R-HSA-72203;
pdb: 2LXU;6DHS;
length: 449
go: ENSG00000169045;
location: SUBCELLULAR LOCATION: Nucleus, nucleoplasm.
name:
Heterogeneous nuclear ribonucleoprotein H (hnRNP H) [Cleaved into: Heterogeneous nuclear ribonucleoprotein H, N-terminally processed]

sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; cytosol [GO:0005829]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; poly(U) RNA binding [GO:0008266]; RNA binding [GO:0003723]; fibroblast growth factor receptor signaling pathway [GO:0008543]; mRNA splicing, via spliceosome [GO:0000398]; regulation of RNA splicing [GO:0043484]; RNA metabolic process [GO:0016070]; RNA processing [GO:0006396]


uniprotID: P61371
geneSymbol: ISL1
reactome: R-HSA-400511;R-HSA-9010553;
name: Insulin gene enhancer protein ISL-1 (Islet-1)
length: 349
go: ENSG00000016082;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P61372}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; bHLH transcription factor binding [GO:0043425]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; enhancer sequence-specific DNA binding [GO:0001158]; estrogen receptor binding [GO:0030331]; metal ion binding [GO:0046872]; nuclear receptor binding [GO:0016922]; promoter-specific chromatin binding [GO:1990841]; 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]; transcription coactivator activity [GO:0003713]; atrial septum morphogenesis [GO:0060413]; axon regeneration [GO:0031103]; cardiac cell fate determination [GO:0060913]; cardiac muscle cell myoblast differentiation [GO:0060379]; cardiac right ventricle morphogenesis [GO:0003215]; cellular response to glucocorticoid stimulus [GO:0071385]; endocardial cushion morphogenesis [GO:0003203]; heart development [GO:0007507]; innervation [GO:0060384]; mesenchymal cell differentiation [GO:0048762]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of inflammatory response [GO:0050728]; negative regulation of intracellular estrogen receptor signaling pathway [GO:0033147]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of neuron differentiation [GO:0045665]; negative regulation of protein homodimerization activity [GO:0090074]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neural crest cell migration [GO:0001755]; neuron fate specification [GO:0048665]; outflow tract morphogenesis [GO:0003151]; outflow tract septum morphogenesis [GO:0003148]; pancreas development [GO:0031016]; peripheral nervous system neuron axonogenesis [GO:0048936]; pharyngeal system development [GO:0060037]; pituitary gland development [GO:0021983]; positive regulation of angiogenesis [GO:0045766]; positive regulation of cell differentiation [GO:0045597]; positive regulation of cell proliferation [GO:0008284]; positive regulation of DNA binding [GO:0043388]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; positive regulation of granulocyte colony-stimulating factor production [GO:0071657]; positive regulation of granulocyte macrophage colony-stimulating factor production [GO:0032725]; positive regulation of histone acetylation [GO:0035066]; positive regulation of insulin secretion [GO:0032024]; positive regulation of interferon-gamma production [GO:0032729]; positive regulation of interleukin-1 alpha production [GO:0032730]; positive regulation of interleukin-1 beta production [GO:0032731]; positive regulation of interleukin-12 production [GO:0032735]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of macrophage colony-stimulating factor production [GO:1901258]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of tumor necrosis factor production [GO:0032760]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; positive regulation of vascular endothelial growth factor production [GO:0010575]; regulation of secondary heart field cardioblast proliferation [GO:0003266]; retinal ganglion cell axon guidance [GO:0031290]; secondary heart field specification [GO:0003139]; sensory system development [GO:0048880]; spinal cord motor neuron cell fate specification [GO:0021520]; spinal cord motor neuron differentiation [GO:0021522]; trigeminal nerve development [GO:0021559]; ventricular cardiac muscle tissue morphogenesis [GO:0055010]; visceral motor neuron differentiation [GO:0021524]


uniprotID: O14498
geneSymbol: ISLR
reactome: R-HSA-114608;
name: Immunoglobulin superfamily containing leucine-rich repeat protein
length: 428
go: ENSG00000129009;
snps: rs376998994
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; platelet alpha granule lumen [GO:0031093]; cell adhesion [GO:0007155]; platelet degranulation [GO:0002576]


uniprotID: P10072
geneSymbol: HKR1
reactome: R-HSA-212436;
name: Krueppel-related zinc finger protein 1 (Protein HKR1) (Zinc finger protein 875)
length: 659
go: ENSG00000181666;
snps: rs2921563 rs3745765 rs3745764
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; multicellular organism development [GO:0007275]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P10072-1; Sequence=Displayed; Name=2; IsoId=P10072-2; Sequence=VSP_035755; 


uniprotID: P05204
geneSymbol: HMGN2
sequence: MPKRKAEGDAKGDKAKVKDEPQRRSARLSAKPAPPKPEPKPKKAPAKKGEKVPKGKKGKADAGKEGNNPAENGDAKTDQAQKAEGAGDAK
length: 90
go: ENSG00000198830;
name:
Non-histone chromosomal protein HMG-17 (High mobility group nucleosome-binding domain-containing protein 2)

opentargets:
chromatin [GO:0000785]; cytoplasm [GO:0005737]; extracellular space [GO:0005615]; nucleus [GO:0005634]; nucleosomal DNA binding [GO:0031492]; RNA binding [GO:0003723]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; killing of cells of other organism [GO:0031640]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10739259}. Cytoplasm {ECO:0000269|PubMed:10739259}. Note=Cytoplasmic enrichment upon phosphorylation.


uniprotID: B1AKI9
geneSymbol: ISM1
name: Isthmin-1
length: 464
go: ENSG00000101230;
opentargets: extracellular region [GO:0005576]; negative regulation of angiogenesis [GO:0016525]
snps: rs3747933
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:


uniprotID: Q5SSJ5
geneSymbol: HP1BP3
pdb: 2RQP;
name: Heterochromatin protein 1-binding protein 3 (Protein HP1-BP74)
length: 553
go: ENSG00000127483;
sequence:

opentargets:
chromosome [GO:0005694]; nuclear speck [GO:0016607]; nucleosome [GO:0000786]; nucleus [GO:0005634]; DNA binding [GO:0003677]; nucleosome binding [GO:0031491]; cellular response to hypoxia [GO:0071456]; heterochromatin organization [GO:0070828]; nucleosome assembly [GO:0006334]; regulation of cell proliferation [GO:0042127]; regulation of nucleus size [GO:0097298]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q5SSJ5-1; Sequence=Displayed; Name=2; IsoId=Q5SSJ5-2; Sequence=VSP_034169; Name=3; IsoId=Q5SSJ5-3; Sequence=VSP_034168; Name=4; IsoId=Q5SSJ5-5; Sequence=VSP_034170, VSP_034171; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24830416}. Chromosome {ECO:0000269|PubMed:20042602, ECO:0000269|PubMed:24830416}. Note=localized in nuclei but not in nucleoli in interphase. Colocalized with chromosomes in mitosis, with a gradually increased during G1 progression and a maximum level during late G1 phase (G1/S). {ECO:0000269|PubMed:24830416}.


uniprotID: Q96Q89
geneSymbol: KIF20B
reactome: R-HSA-6811434;R-HSA-983189;
length: 1820
go: ENSG00000138182;
name:
Kinesin-like protein KIF20B (Cancer/testis antigen 90) (CT90) (Kinesin family member 20B) (Kinesin-related motor interacting with PIN1) (M-phase phosphoprotein 1) (MPP1)

sequence:

opentargets:
centrosome [GO:0005813]; contractile ring [GO:0070938]; cytoplasm [GO:0005737]; growth cone [GO:0030426]; kinesin complex [GO:0005871]; microtubule [GO:0005874]; midbody [GO:0030496]; mitotic spindle midzone [GO:1990023]; mitotic spindle pole [GO:0097431]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; spindle midzone [GO:0051233]; ATP binding [GO:0005524]; ATP-dependent microtubule motor activity, plus-end-directed [GO:0008574]; ATPase activity [GO:0016887]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; protein homodimerization activity [GO:0042803]; WW domain binding [GO:0050699]; cell cycle arrest [GO:0007050]; cell division [GO:0051301]; microtubule-based movement [GO:0007018]; neural tube closure [GO:0001843]; neuron projection morphogenesis [GO:0048812]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cytokinesis [GO:0032467]; positive regulation of intracellular protein transport [GO:0090316]; positive regulation of mitotic cytokinetic process [GO:1903438]; positive regulation of neuron migration [GO:2001224]; protein localization to microtubule [GO:0035372]; regulation of establishment of cell polarity [GO:2000114]; regulation of mitotic nuclear division [GO:0007088]

snps:
rs1129777 rs17484219 rs12572012 rs3758388 rs1062465 rs11185863 rs117564945 rs1886996 rs1886997 rs117258675 rs3758390 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q96Q89-1; Sequence=Displayed; Name=2; IsoId=Q96Q89-2; Sequence=VSP_022620; Name=3; IsoId=Q96Q89-3; Sequence=VSP_022619; Name=4; IsoId=Q96Q89-4; Sequence=VSP_022621, VSP_022622; Name=5; IsoId=Q96Q89-5; Sequence=VSP_022618; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12740395, ECO:0000269|PubMed:17409436}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:11470801}. Nucleus, nucleolus {ECO:0000269|PubMed:11470801}. Nucleus, nucleoplasm {ECO:0000269|PubMed:11470801}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:11470801, ECO:0000269|PubMed:12740395}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:11470801}. Midbody {ECO:0000269|PubMed:12740395, ECO:0000269|PubMed:17409436}. Cell projection, axon {ECO:0000250|UniProtKB:Q80WE4}. Cell projection, growth cone {ECO:0000250|UniProtKB:Q80WE4}. Note=Localizes mainly in the nucleus during interphase although it is also detected in the cytoplasm without clear association with microtubules (PubMed:12740395). Localized to the central spindle during cytokinetic furrowing and with the midbody during abscission (PubMed:12740395, PubMed:17409436). A 2-3 fold expression increase is seen as cells progress from G1 to G2/M phase (PubMed:12740395). During prophase and metaphase it is found throughout the cytoplasm and at anaphase accumulates at the midplan of the cell and forms a distinct band extending across the spindle midzone (PubMed:12740395). At anaphase it is concentrated in the midbody (PubMed:12740395). Colocalized partially along microtubules in primary neurons. Colocalized with SHTN1 along microtubules to the tip of the growing cone in primary hippocampal neurons. Localized in midbodies between dividing radial progenitors in the ventricular zone (By similarity). Colocalized with PRC1 in the nucleus of bladder carcinoma cells at the interphase. Colocalized with PRC1 in bladder carcinoma cells at prophase, metaphase, early anaphase, at the midzone in late anaphase and at the contractile ring in telophase (PubMed:17409436). {ECO:0000250|UniProtKB:Q80WE4, ECO:0000269|PubMed:12740395, ECO:0000269|PubMed:17409436}.


uniprotID: Q14954
geneSymbol: KIR2DS1
reactome: R-HSA-198933;R-HSA-2172127;
length: 304
snps: rs687485 rs687885
name:
Killer cell immunoglobulin-like receptor 2DS1 (CD158 antigen-like family member H) (MHC class I NK cell receptor Eb6 ActI) (CD antigen CD158h)

sequence:

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

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18682925, ECO:0000269|PubMed:9430221}; Single-pass type I membrane protein; Extracellular side {ECO:0000269|PubMed:18682925}.


uniprotID: P46013
geneSymbol: MKI67
pdb: 1R21;2AFF;5J28;
length: 3256
go: ENSG00000148773;
name:
Proliferation marker protein Ki-67 (Antigen identified by monoclonal antibody Ki-67) (Antigen KI-67) (Antigen Ki67)

sequence:

opentargets:
chromosome [GO:0005694]; membrane [GO:0016020]; nuclear body [GO:0016604]; nucleolus [GO:0005730]; nucleus [GO:0005634]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; protein C-terminus binding [GO:0008022]; RNA binding [GO:0003723]; cell cycle [GO:0007049]; cell proliferation [GO:0008283]; regulation of chromatin organization [GO:1902275]; regulation of chromosome segregation [GO:0051983]; regulation of mitotic nuclear division [GO:0007088]

snps:
rs2071498 rs7095325 rs11016076 rs4471342 rs997983 rs34916904 rs2240 rs2853344 rs2152143 rs11016074 rs4750685 rs3740423 rs2853345 rs7918199 rs2782871 rs2782872 rs11591817 rs34116632 rs11016073 rs7083622 rs7071768 rs34688192 rs1063535 rs12777740 rs1050767 rs10082391 rs10764749 rs10082533 rs11016072 rs2071496 rs11016071 rs2798669 rs34750407 rs11106 rs8473 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=P46013-1; Sequence=Displayed; Name=Short; IsoId=P46013-2; Sequence=VSP_004298; 

location:
SUBCELLULAR LOCATION: Chromosome {ECO:0000269|PubMed:15896774, ECO:0000269|PubMed:22002106, ECO:0000269|PubMed:27362226, ECO:0000269|PubMed:9510506}. Nucleus {ECO:0000269|PubMed:10878551, ECO:0000269|PubMed:22002106}. Nucleus, nucleolus {ECO:0000269|PubMed:10878551, ECO:0000269|PubMed:22002106, ECO:0000269|PubMed:2674163, ECO:0000269|PubMed:8799815}. Note=Associates with the surface of the mitotic chromosome, the perichromosomal layer, and covers a substantial fraction of the mitotic chromosome surface (PubMed:27362226). Associates with satellite DNA in G1 phase (PubMed:9510506). Binds tightly to chromatin in interphase, chromatin-binding decreases in mitosis when it associates with the surface of the condensed chromosomes (PubMed:15896774, PubMed:22002106). Predominantly localized in the G1 phase in the perinucleolar region, in the later phases it is also detected throughout the nuclear interior, being predominantly localized in the nuclear matrix (PubMed:22002106). {ECO:0000269|PubMed:15896774, ECO:0000269|PubMed:22002106, ECO:0000269|PubMed:27362226}.


uniprotID: Q15058
geneSymbol: KIF14
reactome: R-HSA-5625900;
name: Kinesin-like protein KIF14
length: 1648
go: ENSG00000118193;
snps: rs139385693 rs12120084
sequence:

opentargets:
cytosol [GO:0005829]; Flemming body [GO:0090543]; kinesin complex [GO:0005871]; membrane [GO:0016020]; microtubule [GO:0005874]; midbody [GO:0030496]; nucleus [GO:0005634]; spindle midzone [GO:0051233]; ATP binding [GO:0005524]; ATP-dependent microtubule motor activity, plus-end-directed [GO:0008574]; ATPase activity [GO:0016887]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; PDZ domain binding [GO:0030165]; protein kinase binding [GO:0019901]; tubulin binding [GO:0015631]; activation of protein kinase activity [GO:0032147]; cell division [GO:0051301]; cell proliferation in forebrain [GO:0021846]; cerebellar cortex development [GO:0021695]; cerebellar granular layer structural organization [GO:0021685]; cerebellar Purkinje cell layer structural organization [GO:0021693]; cerebral cortex development [GO:0021987]; establishment of protein localization [GO:0045184]; hippocampus development [GO:0021766]; microtubule-based movement [GO:0007018]; mitotic metaphase plate congression [GO:0007080]; negative regulation of apoptotic process [GO:0043066]; negative regulation of integrin activation [GO:0033624]; negative regulation of neuron apoptotic process [GO:0043524]; olfactory bulb development [GO:0021772]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cytokinesis [GO:0032467]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; regulation of cell adhesion [GO:0030155]; regulation of cell growth [GO:0001558]; regulation of cell maturation [GO:1903429]; regulation of cell migration [GO:0030334]; regulation of G1/S transition of mitotic cell cycle [GO:2000045]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; regulation of myelination [GO:0031641]; regulation of neuron apoptotic process [GO:0043523]; regulation of Rap protein signal transduction [GO:0032487]; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process [GO:0031146]; substrate adhesion-dependent cell spreading [GO:0034446]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16431929}. Cytoplasm {ECO:0000269|PubMed:16648480}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:16431929}. Midbody {ECO:0000269|PubMed:16431929, ECO:0000269|PubMed:20309963, ECO:0000269|PubMed:28892560}. Note=Nuclear localization observed during interphase (PubMed:16431929). Nuclear localization triggered by entry into mitosis (PubMed:16648480). Cytoplasmic in interphase (PubMed:16648480). Cytoplasmic in metaphase cells (PubMed:16431929). From prophase to metaphase, accumulates at the developing spindle poles and their associated microtubules. During anaphase, accumulates at the spindle midzone. Localization to the central spindle and midbody during anaphase is dependent upon PRC1 and CIT presence. In cells ready to undergo abscission, concentrates at the contractile ring. {ECO:0000269|PubMed:16431929, ECO:0000269|PubMed:16648480}.


uniprotID: O43896
geneSymbol: KIF1C
reactome: R-HSA-6811434;R-HSA-983189;
pdb: 2G1L;
name: Kinesin-like protein KIF1C
length: 1103
go: ENSG00000129250;
snps: rs587777198
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305}.
sequence:

opentargets:
axon [GO:0030424]; axon cytoplasm [GO:1904115]; dendrite [GO:0030425]; endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; kinesin complex [GO:0005871]; microtubule [GO:0005874]; neuron projection [GO:0043005]; ATP binding [GO:0005524]; ATP-dependent microtubule motor activity, plus-end-directed [GO:0008574]; ATPase activity [GO:0016887]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; motor activity [GO:0003774]; RNA binding [GO:0003723]; anterograde neuronal dense core vesicle transport [GO:1990048]; cytoskeleton-dependent intracellular transport [GO:0030705]; microtubule-based movement [GO:0007018]; retrograde neuronal dense core vesicle transport [GO:1990049]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]; vesicle-mediated transport [GO:0016192]


uniprotID: Q14807
geneSymbol: KIF22
reactome: R-HSA-2132295;R-HSA-6811434;R-HSA-983189;
pdb: 2EDU;3BFN;
name: Kinesin-like protein KIF22 (Kinesin-like DNA-binding protein) (Kinesin-like protein 4)
length: 665
go: ENSG00000079616;
snps: rs193922921 rs193922920 rs193922922 rs193922922 rs201659270
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:8599929}. Cytoplasm, cytoskeleton {ECO:0000305}.
sequence:

opentargets:
chromatin [GO:0000785]; cytosol [GO:0005829]; kinesin complex [GO:0005871]; kinetochore [GO:0000776]; microtubule [GO:0005874]; mitotic spindle [GO:0072686]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; DNA binding [GO:0003677]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; DNA repair [GO:0006281]; metaphase plate congression [GO:0051310]; microtubule-based movement [GO:0007018]; mitotic cell cycle [GO:0000278]; mitotic metaphase plate congression [GO:0007080]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]; sister chromatid cohesion [GO:0007062]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14807-1; Sequence=Displayed; Name=2; IsoId=Q14807-2; Sequence=VSP_046428; Note=No experimental confirmation available.; 


uniprotID: O43736
geneSymbol: ITM2A
name: Integral membrane protein 2A (Protein E25)
length: 263
go: ENSG00000078596;
snps: rs35056863 rs35629312
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
sequence:

opentargets:
Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; amyloid-beta binding [GO:0001540]; immunoglobulin production [GO:0002377]; negative regulation of amyloid precursor protein biosynthetic process [GO:0042985]; plasma cell differentiation [GO:0002317]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43736-1; Sequence=Displayed; Name=2; IsoId=O43736-2; Sequence=VSP_042562; Note=No experimental confirmation available.; 


uniprotID: P05556
geneSymbol: ITGB1
pdb: 1K11;1LHA;3G9W;3T9K;3VI3;3VI4;4DX9;4WJK;4WK0;4WK2;4WK4;
length: 798
go: ENSG00000150093;
drug: DB00098;
reactome:
R-HSA-1566948;R-HSA-1566977;R-HSA-198933;R-HSA-202733;R-HSA-210991;R-HSA-2129379;R-HSA-216083;R-HSA-3000157;R-HSA-3000170;R-HSA-3000178;R-HSA-416700;R-HSA-445144;R-HSA-446343;R-HSA-447041;R-HSA-5663220;R-HSA-6785807;R-HSA-75892;R-HSA-8874081;R-HSA-8875513;

name:
Integrin beta-1 (Fibronectin receptor subunit beta) (Glycoprotein IIa) (GPIIA) (VLA-4 subunit beta) (CD antigen CD29)

sequence:

opentargets:
cell surface [GO:0009986]; cleavage furrow [GO:0032154]; cytoplasm [GO:0005737]; dendritic spine [GO:0043197]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; filopodium [GO:0030175]; focal adhesion [GO:0005925]; glial cell projection [GO:0097386]; glutamatergic synapse [GO:0098978]; integral component of synaptic membrane [GO:0099699]; integrin alpha1-beta1 complex [GO:0034665]; integrin alpha10-beta1 complex [GO:0034680]; integrin alpha11-beta1 complex [GO:0034681]; integrin alpha2-beta1 complex [GO:0034666]; integrin alpha3-beta1 complex [GO:0034667]; integrin alpha7-beta1 complex [GO:0034677]; integrin alpha8-beta1 complex [GO:0034678]; integrin complex [GO:0008305]; intercalated disc [GO:0014704]; invadopodium membrane [GO:0071438]; lamellipodium [GO:0030027]; melanosome [GO:0042470]; membrane [GO:0016020]; membrane raft [GO:0045121]; myelin sheath abaxonal region [GO:0035748]; neuromuscular junction [GO:0031594]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; recycling endosome [GO:0055037]; ruffle [GO:0001726]; ruffle membrane [GO:0032587]; sarcolemma [GO:0042383]; Schaffer collateral - CA1 synapse [GO:0098685]; actin binding [GO:0003779]; cadherin binding [GO:0045296]; cell adhesion molecule binding [GO:0050839]; collagen binding involved in cell-matrix adhesion [GO:0098639]; coreceptor activity [GO:0015026]; fibronectin binding [GO:0001968]; integrin binding [GO:0005178]; laminin binding [GO:0043236]; metal ion binding [GO:0046872]; protease binding [GO:0002020]; protein heterodimerization activity [GO:0046982]; protein-containing complex binding [GO:0044877]; virus receptor activity [GO:0001618]; axon extension [GO:0048675]; B cell differentiation [GO:0030183]; basement membrane organization [GO:0071711]; calcium-independent cell-matrix adhesion [GO:0007161]; cardiac muscle cell differentiation [GO:0055007]; cell adhesion mediated by integrin [GO:0033627]; cell fate specification [GO:0001708]; cell migration [GO:0016477]; cell migration involved in sprouting angiogenesis [GO:0002042]; cell projection organization [GO:0030030]; cell-cell adhesion mediated by integrin [GO:0033631]; cell-matrix adhesion [GO:0007160]; cell-substrate adhesion [GO:0031589]; cellular defense response [GO:0006968]; cellular response to low-density lipoprotein particle stimulus [GO:0071404]; cytokine-mediated signaling pathway [GO:0019221]; dendrite morphogenesis [GO:0048813]; extracellular matrix organization [GO:0030198]; formation of radial glial scaffolds [GO:0021943]; G1/S transition of mitotic cell cycle [GO:0000082]; germ cell migration [GO:0008354]; heterotypic cell-cell adhesion [GO:0034113]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; in utero embryonic development [GO:0001701]; integrin-mediated signaling pathway [GO:0007229]; lamellipodium assembly [GO:0030032]; leukocyte cell-cell adhesion [GO:0007159]; leukocyte migration [GO:0050900]; leukocyte tethering or rolling [GO:0050901]; mesodermal cell differentiation [GO:0048333]; modulation of chemical synaptic transmission [GO:0050804]; negative regulation of anoikis [GO:2000811]; negative regulation of cell differentiation [GO:0045596]; negative regulation of Rho protein signal transduction [GO:0035024]; phagocytosis [GO:0006909]; positive regulation of angiogenesis [GO:0045766]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cell proliferation [GO:0008284]; positive regulation of GTPase activity [GO:0043547]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of protein localization to plasma membrane [GO:1903078]; positive regulation of signaling receptor activity [GO:2000273]; receptor internalization [GO:0031623]; regulation of cell cycle [GO:0051726]; regulation of collagen catabolic process [GO:0010710]; regulation of immune response [GO:0050776]; sarcomere organization [GO:0045214]; visual learning [GO:0008542]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=Beta-1A; IsoId=P05556-1; Sequence=Displayed; Name=2; Synonyms=Beta-1B; IsoId=P05556-2; Sequence=VSP_002741; Name=3; Synonyms=Beta-1C; IsoId=P05556-3; Sequence=VSP_002742; Name=4; Synonyms=Beta-1C-2; IsoId=P05556-4; Sequence=VSP_002743; Name=5; Synonyms=Beta-1D; IsoId=P05556-5; Sequence=VSP_002744; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000303|PubMed:10455171}; Single-pass type I membrane protein {ECO:0000255}. Cell projection, invadopodium membrane {ECO:0000269|PubMed:10455171}; Single-pass type I membrane protein {ECO:0000255}. Cell projection, ruffle membrane {ECO:0000303|PubMed:10455171}; Single-pass type I membrane protein {ECO:0000255}. Recycling endosome {ECO:0000269|PubMed:16256741}. Melanosome {ECO:0000269|PubMed:17081065}. Cleavage furrow {ECO:0000269|PubMed:17956333}. Cell projection, lamellipodium {ECO:0000269|PubMed:11919189}. Cell projection, ruffle {ECO:0000269|PubMed:11919189}. Cell junction, focal adhesion {ECO:0000269|PubMed:17158881}. Cell surface {ECO:0000269|PubMed:17158881}. Note=Isoform 2 does not localize to focal adhesions. Highly enriched in stage I melanosomes. Located on plasma membrane of neuroblastoma NMB7 cells. In a lung cancer cell line, in prometaphase and metaphase, localizes diffusely at the membrane and in a few intracellular vesicles. In early telophase, detected mainly on the matrix-facing side of the cells. By mid-telophase, concentrated to the ingressing cleavage furrow, mainly to the basal side of the furrow. In late telophase, concentrated to the extending protrusions formed at the opposite ends of the spreading daughter cells, in vesicles at the base of the lamellipodia formed by the separating daughter cells. Colocalizes with ITGB1BP1 and metastatic suppressor protein NME2 at the edge or peripheral ruffles and lamellipodia during the early stages of cell spreading on fibronectin or collagen. Translocates from peripheral focal adhesions sites to fibrillar adhesions in a ITGB1BP1-dependent manner. Enriched preferentially at invadopodia, cell membrane protrusions that correspond to sites of cell invasion, in a collagen-dependent manner. Localized at plasma and ruffle membranes in a collagen-independent manner. {ECO:0000269|PubMed:10455171, ECO:0000303|PubMed:10455171}.; SUBCELLULAR LOCATION: Isoform 5: Cell membrane, sarcolemma {ECO:0000250}. Cell junction {ECO:0000250}. Note=In cardiac muscle, isoform 5 is found in costameres and intercalated disks. {ECO:0000250}.


uniprotID: P05106
geneSymbol: ITGB3
name: Integrin beta-3 (Platelet membrane glycoprotein IIIa) (GPIIIa) (CD antigen CD61)
length: 788
go: ENSG00000259207;
drug: DB00054;DB00098;DB00063;DB04863;DB05787;DB00775;
reactome:
R-HSA-114608;R-HSA-1566948;R-HSA-210990;R-HSA-2129379;R-HSA-216083;R-HSA-3000170;R-HSA-3000178;R-HSA-354192;R-HSA-354194;R-HSA-372708;R-HSA-4420097;R-HSA-445144;R-HSA-5674135;R-HSA-6802946;R-HSA-6802948;R-HSA-6802949;R-HSA-6802952;R-HSA-6802955;

pdb:
1JV2;1KUP;1KUZ;1L5G;1M1X;1M8O;1MIZ;1MK7;1MK9;1RN0;1S4X;1TYE;1U8C;2INI;2K9J;2KNC;2KV9;2L1C;2L91;2LJD;2LJE;2LJF;2MTP;2N9Y;2Q6W;2RMZ;2RN0;2VC2;2VDK;2VDL;2VDM;2VDN;2VDO;2VDP;2VDQ;2VDR;3FCS;3FCU;3IJE;3NID;3NIF;3NIG;3T3M;3T3P;3ZDX;3ZDY;3ZDZ;3ZE0;3ZE1;3ZE2;4CAK;4G1E;4G1M;4MMX;4MMY;4MMZ;4O02;4Z7N;4Z7O;4Z7Q;5HDB;6AVQ;6AVR;6AVU;6BXB;6BXF;6CKB;

sequence:

opentargets:
alphav-beta3 integrin-HMGB1 complex [GO:0035868]; alphav-beta3 integrin-IGF-1-IGF1R complex [GO:0035867]; alphav-beta3 integrin-PKCalpha complex [GO:0035866]; alphav-beta3 integrin-vitronectin complex [GO:0071062]; cell surface [GO:0009986]; extracellular exosome [GO:0070062]; filopodium membrane [GO:0031527]; focal adhesion [GO:0005925]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; integrin alphav-beta3 complex [GO:0034683]; integrin complex [GO:0008305]; lamellipodium membrane [GO:0031258]; melanosome [GO:0042470]; microvillus membrane [GO:0031528]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; platelet alpha granule membrane [GO:0031092]; receptor complex [GO:0043235]; ruffle membrane [GO:0032587]; cell adhesion molecule binding [GO:0050839]; coreceptor activity [GO:0015026]; enzyme binding [GO:0019899]; extracellular matrix binding [GO:0050840]; fibronectin binding [GO:0001968]; identical protein binding [GO:0042802]; integrin binding [GO:0005178]; platelet-derived growth factor receptor binding [GO:0005161]; protease binding [GO:0002020]; protein disulfide isomerase activity [GO:0003756]; vascular endothelial growth factor receptor 2 binding [GO:0043184]; virus receptor activity [GO:0001618]; activation of protein kinase activity [GO:0032147]; angiogenesis involved in wound healing [GO:0060055]; apolipoprotein A-I-mediated signaling pathway [GO:0038027]; apoptotic cell clearance [GO:0043277]; blood coagulation [GO:0007596]; cell adhesion [GO:0007155]; cell adhesion mediated by integrin [GO:0033627]; cell migration [GO:0016477]; cell-matrix adhesion [GO:0007160]; cell-substrate adhesion [GO:0031589]; extracellular matrix organization [GO:0030198]; heterotypic cell-cell adhesion [GO:0034113]; integrin-mediated signaling pathway [GO:0007229]; leukocyte migration [GO:0050900]; mesodermal cell differentiation [GO:0048333]; negative chemotaxis [GO:0050919]; negative regulation of lipid storage [GO:0010888]; negative regulation of lipid transport [GO:0032369]; negative regulation of lipoprotein metabolic process [GO:0050748]; negative regulation of low-density lipoprotein particle receptor biosynthetic process [GO:0045715]; negative regulation of macrophage derived foam cell differentiation [GO:0010745]; platelet activation [GO:0030168]; platelet aggregation [GO:0070527]; platelet degranulation [GO:0002576]; positive regulation of endothelial cell migration [GO:0010595]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of vascular endothelial growth factor receptor signaling pathway [GO:0030949]; regulation of bone resorption [GO:0045124]; regulation of postsynaptic neurotransmitter receptor internalization [GO:0099149]; smooth muscle cell migration [GO:0014909]; substrate adhesion-dependent cell spreading [GO:0034446]; tube development [GO:0035295]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]; viral entry into host cell [GO:0046718]; wound healing [GO:0042060]

snps:
rs5918 rs74554539 rs36080296 rs781062792 rs121918452 rs77963874 rs121918445 rs767548512 rs74708909 rs5917 rs143146734 rs79208797 rs121918444 rs121918446 rs377162158 rs79560904 rs79775494 rs13306476 rs121918449 rs121918448 rs5921 rs13306487 rs747534508 rs144884023 rs151219882 rs398122372 rs121918447 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=Beta-3A; IsoId=P05106-1; Sequence=Displayed; Name=Beta-3B; IsoId=P05106-2; Sequence=VSP_002745; Name=Beta-3C; IsoId=P05106-3; Sequence=VSP_002746; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:20020534, ECO:0000269|PubMed:20702409, ECO:0000269|PubMed:9195946}; Single-pass type I membrane protein {ECO:0000269|PubMed:20020534, ECO:0000269|PubMed:20702409, ECO:0000269|PubMed:9195946}. Cell projection, lamellipodium membrane {ECO:0000269|PubMed:20702409}. Cell junction, focal adhesion {ECO:0000269|PubMed:20702409}.


uniprotID: P05783
geneSymbol: KRT18
reactome: R-HSA-6805567;R-HSA-6809371;
length: 430
go: ENSG00000111057;
snps: rs61136606 rs57758506 rs58472472 rs57354642 rs57370769
location: SUBCELLULAR LOCATION: Cytoplasm, perinuclear region. Nucleus, nucleolus.
name:
Keratin, type I cytoskeletal 18 (Cell proliferation-inducing gene 46 protein) (Cytokeratin-18) (CK-18) (Keratin-18) (K18)

sequence:

opentargets:
cell periphery [GO:0071944]; cell-cell adherens junction [GO:0005913]; centriolar satellite [GO:0034451]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intermediate filament [GO:0005882]; keratin filament [GO:0045095]; microtubule organizing center [GO:0005815]; nucleolus [GO:0005730]; perinuclear region of cytoplasm [GO:0048471]; cadherin binding involved in cell-cell adhesion [GO:0098641]; RNA binding [GO:0003723]; scaffold protein binding [GO:0097110]; structural molecule activity [GO:0005198]; anatomical structure morphogenesis [GO:0009653]; cell cycle [GO:0007049]; cornification [GO:0070268]; extrinsic apoptotic signaling pathway [GO:0097191]; Golgi to plasma membrane CFTR protein transport [GO:0043000]; hepatocyte apoptotic process [GO:0097284]; intermediate filament cytoskeleton organization [GO:0045104]; keratinization [GO:0031424]; negative regulation of apoptotic process [GO:0043066]; tumor necrosis factor-mediated signaling pathway [GO:0033209]; viral process [GO:0016032]


uniprotID: Q96M32
geneSymbol: AK7
reactome: R-HSA-499943;
name: Adenylate kinase 7 (AK 7) (EC 2.7.4.3) (EC 2.7.4.6) (ATP-AMP transphosphorylase 7)
length: 723
go: ENSG00000140057;
snps: rs2275554 rs2369679 rs116298211
sequence:

opentargets:
cytosol [GO:0005829]; motile cilium [GO:0031514]; adenylate kinase activity [GO:0004017]; ATP binding [GO:0005524]; cytidylate kinase activity [GO:0004127]; nucleoside diphosphate kinase activity [GO:0004550]; nucleoside kinase activity [GO:0019206]; cell projection organization [GO:0030030]; nucleobase-containing small molecule interconversion [GO:0015949]; nucleoside diphosphate phosphorylation [GO:0006165]; nucleoside triphosphate biosynthetic process [GO:0009142]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:21080915}. Cell projection, cilium, flagellum {ECO:0000269|PubMed:29365104}. Note=Detected along the full length of sperm flagellum, where it colocalizes with alpha-tubulin. {ECO:0000269|PubMed:29365104}.


uniprotID: P02533
geneSymbol: KRT14
reactome: R-HSA-446107;R-HSA-6805567;R-HSA-6809371;
pdb: 3TNU;
name: Keratin, type I cytoskeletal 14 (Cytokeratin-14) (CK-14) (Keratin-14) (K14)
length: 472
go: ENSG00000186847;
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Expressed in both as a filamentous pattern.
sequence:

opentargets:
basal part of cell [GO:0045178]; cell periphery [GO:0071944]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intermediate filament [GO:0005882]; keratin filament [GO:0045095]; nucleus [GO:0005634]; keratin filament binding [GO:1990254]; structural constituent of cytoskeleton [GO:0005200]; aging [GO:0007568]; cornification [GO:0070268]; epidermis development [GO:0008544]; hair cycle [GO:0042633]; hemidesmosome assembly [GO:0031581]; intermediate filament bundle assembly [GO:0045110]; keratinization [GO:0031424]; response to ionizing radiation [GO:0010212]; response to zinc ion [GO:0010043]

snps:
rs6503640 rs3826550 rs59271739 rs57358989 rs28928893 rs61263401 rs60993843 rs59110575 rs3826549 rs60171927 rs60399023 rs60399023 rs58330629 rs60470268 rs57522245 rs56798071 rs61027685 rs61540016 rs61326242 rs57121345 rs58378809 rs60589227 rs11551755 rs147611635 rs58560979 rs61371557 rs61371557 rs59375065 rs58785777 rs61536893 rs59629244 rs59966597 rs58645163 rs57200223 rs59780231 rs59442925 rs58380626 rs60622724 rs61085704 rs57364972 rs58762773 


uniprotID: Q9HCI6
geneSymbol: KIAA1586
name: E3 SUMO-protein ligase KIAA1586 (EC 2.3.2.-) (E3 SUMO-protein transferase KIAA1586)
length: 787
go: ENSG00000168116;
opentargets: SUMO ligase activity [GO:0061665]; protein sumoylation [GO:0016925]
snps: rs36113897 rs6926980
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HCI6-1; Sequence=Displayed; Name=2; IsoId=Q9HCI6-2; Sequence=VSP_031740; 


uniprotID: Q2KJY2
geneSymbol: KIF26B
reactome: R-HSA-6811434;R-HSA-983189;
name: Kinesin-like protein KIF26B
length: 2108
go: ENSG00000162849;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; kinesin complex [GO:0005871]; microtubule [GO:0005874]; ATP binding [GO:0005524]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; establishment of cell polarity [GO:0030010]; positive regulation of cell-cell adhesion [GO:0022409]; ureteric bud invasion [GO:0072092]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q2KJY2-1; Sequence=Displayed; Name=2; IsoId=Q2KJY2-2; Sequence=VSP_028687, VSP_028693; Note=No experimental confirmation available.; 


uniprotID: Q8N743
geneSymbol: KIR3DL3
length: 410
opentargets: integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
name:
Killer cell immunoglobulin-like receptor 3DL3 (CD158 antigen-like family member Z) (Killer cell inhibitory receptor 1) (CD antigen CD158z)

sequence:

snps:
rs113988102 rs2075731 rs202170060 rs62132665 rs199609975 rs270790 rs778109676 rs2302422 rs602444 rs602444 rs662386 rs662386 rs16985907 rs28504993 


uniprotID: O60333
geneSymbol: KIF1B
reactome: R-HSA-6811434;R-HSA-983189;
pdb: 2EH0;
name: Kinesin-like protein KIF1B (Klp)
length: 1816
go: ENSG00000054523;
snps: rs121908160 rs121908161 rs121908162 rs2297881 rs121908163 rs121908164 rs77172218 rs143669846
sequence:

opentargets:
axon [GO:0030424]; axon cytoplasm [GO:1904115]; cytoplasmic vesicle [GO:0031410]; cytoplasmic vesicle membrane [GO:0030659]; dendrite [GO:0030425]; kinesin complex [GO:0005871]; microtubule [GO:0005874]; microtubule associated complex [GO:0005875]; mitochondrion [GO:0005739]; neuron projection [GO:0043005]; ATP binding [GO:0005524]; ATP-dependent microtubule motor activity, plus-end-directed [GO:0008574]; ATPase activity [GO:0016887]; kinase binding [GO:0019900]; kinesin binding [GO:0019894]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; scaffold protein binding [GO:0097110]; anterograde axonal transport [GO:0008089]; anterograde neuronal dense core vesicle transport [GO:1990048]; apoptotic process [GO:0006915]; cellular response to nerve growth factor stimulus [GO:1990090]; cytoskeleton-dependent intracellular transport [GO:0030705]; lysosome localization [GO:0032418]; microtubule-based movement [GO:0007018]; mitochondrion transport along microtubule [GO:0047497]; neuromuscular synaptic transmission [GO:0007274]; neuron-neuron synaptic transmission [GO:0007270]; positive regulation of gene expression [GO:0010628]; protein localization to cell periphery [GO:1990778]; response to rotenone [GO:1904647]; retrograde neuronal dense core vesicle transport [GO:1990049]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O60333-1; Sequence=Displayed; Name=2; Synonyms=Beta; IsoId=O60333-2; Sequence=VSP_002858, VSP_002859; Name=3; Synonyms=Alpha; IsoId=O60333-3; Sequence=VSP_002858, VSP_002859, VSP_002860, VSP_002861; Name=4; IsoId=O60333-4; Sequence=VSP_009381; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Mitochondrion {ECO:0000269|PubMed:16225668}. Note=Colocalizes with synaptophysin at synaptic cytoplasmic transport vesicles in the neurites of hippocampal neurons. {ECO:0000250}.


uniprotID: Q02241
geneSymbol: KIF23
reactome: R-HSA-2132295;R-HSA-6811434;R-HSA-68884;R-HSA-983189;
pdb: 3VHX;
name: Kinesin-like protein KIF23 (Kinesin-like protein 5) (Mitotic kinesin-like protein 1)
length: 960
go: ENSG00000137807;
snps: rs17310879
sequence:

opentargets:
centralspindlin complex [GO:0097149]; centrosome [GO:0005813]; cytosol [GO:0005829]; Flemming body [GO:0090543]; focal adhesion [GO:0005925]; intercellular bridge [GO:0045171]; kinesin complex [GO:0005871]; microtubule [GO:0005874]; midbody [GO:0030496]; mitotic spindle [GO:0072686]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spindle [GO:0005819]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; actomyosin contractile ring assembly [GO:0000915]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; microtubule-based movement [GO:0007018]; mitotic cytokinesis [GO:0000281]; mitotic spindle elongation [GO:0000022]; mitotic spindle midzone assembly [GO:0051256]; plus-end-directed vesicle transport along microtubule [GO:0072383]; positive regulation of cytokinesis [GO:0032467]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q02241-1; Sequence=Displayed; Name=2; IsoId=Q02241-2; Sequence=VSP_021801; Name=3; IsoId=Q02241-3; Sequence=VSP_057348, VSP_057349, VSP_021801; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm, cytoskeleton, spindle. Midbody, Midbody ring {ECO:0000269|PubMed:16213214}. Note=Localizes to the interzone of mitotic spindles. Detected at the midbody during later stages of mitotic cytokinesis.


uniprotID: Q5T7B8
geneSymbol: KIF24
reactome: R-HSA-5620912;
name: Kinesin-like protein KIF24
length: 1368
go: ENSG00000186638;
snps: rs16935508 rs41274845 rs10972048 rs17350674 rs41274041 rs34101674
sequence:

opentargets:
centriole [GO:0005814]; cytosol [GO:0005829]; kinesin complex [GO:0005871]; microtubule [GO:0005874]; protein-containing complex [GO:0032991]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; identical protein binding [GO:0042802]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; ciliary basal body-plasma membrane docking [GO:0097711]; cilium assembly [GO:0060271]; microtubule depolymerization [GO:0007019]; microtubule-based movement [GO:0007018]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q5T7B8-1; Sequence=Displayed; Name=2; IsoId=Q5T7B8-2; Sequence=VSP_023210; Note=No experimental confirmation available.; Name=3; IsoId=Q5T7B8-3; Sequence=VSP_023211; Note=No experimental confirmation available.; Name=4; IsoId=Q5T7B8-4; Sequence=VSP_023212, VSP_023213; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:21620453}. Note=Primarily localizes to the mother centriole/basal body and is either absent at daughter centriole.


uniprotID: P26006
geneSymbol: ITGA3
reactome: R-HSA-210991;R-HSA-216083;R-HSA-3000157;R-HSA-8874081;
length: 1051
go: ENSG00000005884;
snps: rs2230390 rs745505565 rs140781106 rs2230392 rs2301626
name:
Integrin alpha-3 (CD49 antigen-like family member C) (FRP-2) (Galactoprotein B3) (GAPB3) (VLA-3 subunit alpha) (CD antigen CD49c) [Cleaved into: Integrin alpha-3 heavy chain; Integrin alpha-3 light chain]

sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; cell periphery [GO:0071944]; cell surface [GO:0009986]; excitatory synapse [GO:0060076]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; filopodium membrane [GO:0031527]; focal adhesion [GO:0005925]; growth cone filopodium [GO:1990812]; integrin alpha3-beta1 complex [GO:0034667]; integrin complex [GO:0008305]; invadopodium membrane [GO:0071438]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; synaptic membrane [GO:0097060]; collagen binding [GO:0005518]; fibronectin binding [GO:0001968]; integrin binding [GO:0005178]; laminin binding [GO:0043236]; metal ion binding [GO:0046872]; protease binding [GO:0002020]; protein domain specific binding [GO:0019904]; protein heterodimerization activity [GO:0046982]; cell-matrix adhesion [GO:0007160]; dendritic spine maintenance [GO:0097062]; exploration behavior [GO:0035640]; extracellular matrix organization [GO:0030198]; heart development [GO:0007507]; integrin-mediated signaling pathway [GO:0007229]; leukocyte migration [GO:0050900]; lung development [GO:0030324]; maternal process involved in female pregnancy [GO:0060135]; memory [GO:0007613]; mesodermal cell differentiation [GO:0048333]; negative regulation of cell projection organization [GO:0031345]; negative regulation of Rho protein signal transduction [GO:0035024]; nephron development [GO:0072006]; neuron migration [GO:0001764]; positive regulation of cell-substrate adhesion [GO:0010811]; positive regulation of epithelial cell migration [GO:0010634]; positive regulation of gene expression [GO:0010628]; positive regulation of neuron projection development [GO:0010976]; positive regulation of protein localization to plasma membrane [GO:1903078]; regulation of BMP signaling pathway [GO:0030510]; regulation of transforming growth factor beta receptor signaling pathway [GO:0017015]; regulation of Wnt signaling pathway [GO:0030111]; renal filtration [GO:0097205]; response to drug [GO:0042493]; response to gonadotropin [GO:0034698]; skin development [GO:0043588]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Alpha-3A; IsoId=P26006-2; Sequence=Displayed; Name=2; Synonyms=Alpha-3B; IsoId=P26006-1; Sequence=VSP_002721; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15611341}; Single-pass type I membrane protein {ECO:0000255}. Cell membrane {ECO:0000269|PubMed:15611341}; Lipid-anchor {ECO:0000269|PubMed:15611341}. Cell projection, invadopodium membrane {ECO:0000269|PubMed:10455171}; Single-pass type I membrane protein {ECO:0000255}. Cell projection, filopodium membrane {ECO:0000269|PubMed:10455171}; Single-pass type I membrane protein {ECO:0000255}. Note=Enriched preferentially at invadopodia, cell membrane protrusions that correspond to sites of cell invasion, in a collagen-dependent manner. {ECO:0000269|PubMed:10455171}.


uniprotID: Q15811
geneSymbol: ITSN1
reactome: R-HSA-193648;R-HSA-194840;R-HSA-3928662;R-HSA-416482;R-HSA-8856825;R-HSA-8856828;
pdb: 1KI1;2KGR;2KHN;3FIA;3QBV;4IIM;5HZI;5HZJ;5HZK;6GBU;
name: Intersectin-1 (SH3 domain-containing protein 1A) (SH3P17)
length: 1721
go: ENSG00000205726;
snps: rs187895245
sequence:

opentargets:
calyx of Held [GO:0044305]; cell junction [GO:0030054]; clathrin-coated pit [GO:0005905]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endocytic vesicle [GO:0030139]; lamellipodium [GO:0030027]; nuclear envelope [GO:0005635]; plasma membrane [GO:0005886]; presynaptic endocytic zone [GO:0098833]; calcium ion binding [GO:0005509]; guanyl-nucleotide exchange factor activity [GO:0005085]; kinase activator activity [GO:0019209]; proline-rich region binding [GO:0070064]; protein-containing complex scaffold activity [GO:0032947]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; ephrin receptor signaling pathway [GO:0048013]; G protein-coupled receptor signaling pathway [GO:0007186]; membrane organization [GO:0061024]; negative regulation of neuron apoptotic process [GO:0043524]; positive regulation of apoptotic process [GO:0043065]; positive regulation of protein kinase B signaling [GO:0051897]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]; small GTPase mediated signal transduction [GO:0007264]; synaptic vesicle endocytosis [GO:0048488]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=13;  Comment=Additional isoforms seem to exist. Alternative splicing affects domains involved in protein recognition and thus may play a role in selecting specific interactions. {ECO:0000269|PubMed:11690630, ECO:0000269|PubMed:19777371}; Name=1; Synonyms=Long, ITSN-l; IsoId=Q15811-1; Sequence=Displayed; Name=2; Synonyms=Short, ITSN-s; IsoId=Q15811-2; Sequence=VSP_004295; Name=3; Synonyms=Short 2, SH3P17; IsoId=Q15811-3; Sequence=VSP_004293, VSP_004294, VSP_004295; Name=4; IsoId=Q15811-4; Sequence=VSP_004294; Name=5; Synonyms=ITSN1-22a; IsoId=Q15811-5; Sequence=VSP_004293, VSP_047460, VSP_047461; Name=6; Synonyms=Long form variant 4, Short form variant 11; IsoId=Q15811-6; Sequence=VSP_004293, VSP_053320, VSP_053321; Note=Contains a premature stop codon, potentially subjected to NMD.; Name=7; Synonyms=Short form variant 5; IsoId=Q15811-7; Sequence=VSP_004293, VSP_004295; Name=8; Synonyms=Long form variant 2; IsoId=Q15811-8; Sequence=VSP_004293; Name=9; Synonyms=Long form variant 3; IsoId=Q15811-9; Sequence=VSP_004293, VSP_053322; Name=10; Synonyms=Short form variant 2; IsoId=Q15811-10; Sequence=VSP_053317, VSP_004293, VSP_004295; Name=11; Synonyms=Short form variant 3; IsoId=Q15811-11; Sequence=VSP_053317, VSP_004294, VSP_004295; Name=12; Synonyms=Short form variant 10; IsoId=Q15811-12; Sequence=VSP_053317, VSP_004293, VSP_004294, VSP_004295; Name=13; Synonyms=Short form variant 14; IsoId=Q15811-13; Sequence=VSP_004293, VSP_053318, VSP_053319; Note=Contains a premature stop codon, potentially subjected to NMD.; 

location:
SUBCELLULAR LOCATION: Endomembrane system {ECO:0000250}. Cell junction, synapse, synaptosome {ECO:0000250}. Cell projection, lamellipodium. Membrane, clathrin-coated pit. Note=Colocalizes with SGIP1 at the plasma membrane in structures corresponding most probably to clathrin-coated pits. {ECO:0000305}.


uniprotID: Q9NZM3
geneSymbol: ITSN2
reactome: R-HSA-8856825;R-HSA-8856828;
pdb: 1J3T;1UDL;1UE9;1UFF;1UHF;3GF9;3JZY;4IIO;
name: Intersectin-2 (SH3 domain-containing protein 1B) (SH3P18) (SH3P18-like WASP-associated protein)
length: 1697
go: ENSG00000198399;
snps: rs6744320 rs7603997 rs3731625 rs2303291
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; calcium ion binding [GO:0005509]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; SH3/SH2 adaptor activity [GO:0005070]; endocytosis [GO:0006897]; positive regulation of dendrite extension [GO:1903861]; regulation of Rho protein signal transduction [GO:0035023]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=ITSN2-L; IsoId=Q9NZM3-1; Sequence=Displayed; Name=2; IsoId=Q9NZM3-2; Sequence=VSP_003892; Name=3; Synonyms=ITSN2-S1; IsoId=Q9NZM3-3; Sequence=VSP_003893, VSP_003894; Name=4; Synonyms=ITSN2-S2, SH3P18; IsoId=Q9NZM3-4; Sequence=VSP_003895; 


uniprotID: Q12840
geneSymbol: KIF5A
reactome: R-HSA-2132295;R-HSA-264876;R-HSA-5625970;R-HSA-6811434;R-HSA-983189;
pdb: 4UXT;4UXY;4UY0;
length: 1032
go: ENSG00000155980;
name:
Kinesin heavy chain isoform 5A (Kinesin heavy chain neuron-specific 1) (Neuronal kinesin heavy chain) (NKHC)

sequence:

opentargets:
axon cytoplasm [GO:1904115]; ciliary rootlet [GO:0035253]; cytosol [GO:0005829]; dendrite cytoplasm [GO:0032839]; kinesin complex [GO:0005871]; membrane [GO:0016020]; microtubule [GO:0005874]; neuronal cell body [GO:0043025]; perinuclear region of cytoplasm [GO:0048471]; synapse [GO:0045202]; ATP binding [GO:0005524]; ATP-dependent microtubule motor activity, plus-end-directed [GO:0008574]; ATPase activity [GO:0016887]; kinesin binding [GO:0019894]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; motor activity [GO:0003774]; anterograde axonal protein transport [GO:0099641]; anterograde dendritic transport of neurotransmitter receptor complex [GO:0098971]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; axon guidance [GO:0007411]; chemical synaptic transmission [GO:0007268]; microtubule-based movement [GO:0007018]; retrograde neuronal dense core vesicle transport [GO:1990049]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]; synaptic vesicle transport [GO:0048489]; vesicle-mediated transport [GO:0016192]

snps:
rs387907287 rs387907285 rs121434441 rs121434443 rs121434442 rs387907288 rs121434444 rs1399145820 rs1183553852 rs754373609 rs113247976 

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Note=Concentrated in the cell body of the neurons, particularly in the perinuclear region. {ECO:0000250}.


uniprotID: Q6UXX5
geneSymbol: ITIH6
length: 1313
go: ENSG00000102313;
snps: rs34188213 rs34004499 rs17316491 rs35355718
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
name:
Inter-alpha-trypsin inhibitor heavy chain H6 (Inter-alpha-trypsin inhibitor heavy chain H5-like protein) (Inter-alpha inhibitor H5-like protein)

sequence:

opentargets:
extracellular region [GO:0005576]; serine-type endopeptidase inhibitor activity [GO:0004867]; hyaluronan metabolic process [GO:0030212]


uniprotID: Q86T90
geneSymbol: KIAA1328
name: Protein hinderin
length: 577
go: ENSG00000150477;
snps: rs12326301
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q86T90-1; Sequence=Displayed; Name=2; IsoId=Q86T90-2; Sequence=VSP_029810; Note=No experimental confirmation available.; Name=3; IsoId=Q86T90-3; Sequence=VSP_029809, VSP_029811, VSP_029814, VSP_029815; Note=No experimental confirmation available.; Name=4; IsoId=Q86T90-4; Sequence=VSP_029809, VSP_029812, VSP_029813; Note=No experimental confirmation available.; 


uniprotID: Q9P206
geneSymbol: KIAA1522
name: Uncharacterized protein KIAA1522
length: 1035
go: ENSG00000162522;
opentargets: cell differentiation [GO:0030154]
snps: rs11803515 rs3737994 rs12730560 rs11582639 rs581875 rs675928
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9P206-1; Sequence=Displayed; Name=2; IsoId=Q9P206-2; Sequence=VSP_040217; Name=3; IsoId=Q9P206-3; Sequence=VSP_041634; Name=4; IsoId=Q9P206-4; Sequence=VSP_043215; 


uniprotID: Q6KB66
geneSymbol: KRT80
reactome: R-HSA-6805567;R-HSA-6809371;
name: Keratin, type II cytoskeletal 80 (Cytokeratin-80) (CK-80) (Keratin-80) (K80) (Type-II keratin Kb20)
length: 452
go: ENSG00000167767;
snps: rs35725856
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intermediate filament [GO:0005882]; intermediate filament cytoskeleton [GO:0045111]; keratin filament [GO:0045095]; structural molecule activity [GO:0005198]; cornification [GO:0070268]; keratinization [GO:0031424]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6KB66-1; Sequence=Displayed; Name=2; IsoId=Q6KB66-2; Sequence=VSP_030423; Name=3; IsoId=Q6KB66-3; Sequence=VSP_030421, VSP_030422; Note=No experimental confirmation available.; 


uniprotID: Q01546
geneSymbol: KRT76
reactome: R-HSA-6805567;R-HSA-6809371;
length: 638
go: ENSG00000185069;
snps: rs11170271 rs6580904 rs2280480
name:
Keratin, type II cytoskeletal 2 oral (Cytokeratin-2P) (CK-2P) (K2P) (Keratin-76) (K76) (Type-II keratin Kb9)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intermediate filament [GO:0005882]; keratin filament [GO:0045095]; nucleus [GO:0005634]; structural molecule activity [GO:0005198]; cornification [GO:0070268]; cytoskeleton organization [GO:0007010]; keratinization [GO:0031424]; pigmentation [GO:0043473]; sebaceous gland development [GO:0048733]


uniprotID: A2RU54
geneSymbol: HMX2
name: Homeobox protein HMX2 (Homeobox protein H6 family member 2)
length: 273
go: ENSG00000188816;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; brain development [GO:0007420]; cell differentiation [GO:0030154]; inner ear morphogenesis [GO:0042472]; positive regulation of cell proliferation [GO:0008284]; positive regulation of mRNA splicing, via spliceosome [GO:0048026]


uniprotID: O75330
geneSymbol: HMMR
reactome: R-HSA-2160916;R-HSA-8854518;
length: 724
go: ENSG00000072571;
drug: DB08818;
snps: rs299284 rs2303077 rs2303077 rs2303078 rs299290 rs299295 rs2230362 rs2230363
name:
Hyaluronan mediated motility receptor (Intracellular hyaluronic acid-binding protein) (Receptor for hyaluronan-mediated motility) (CD antigen CD168)

sequence:

opentargets:
cell surface [GO:0009986]; centrosome [GO:0005813]; cytosol [GO:0005829]; membrane [GO:0016020]; microtubule cytoskeleton [GO:0015630]; plasma membrane [GO:0005886]; hyaluronic acid binding [GO:0005540]; hyaluronan catabolic process [GO:0030214]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=A; IsoId=O75330-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=O75330-2; Sequence=VSP_004286; Name=3; IsoId=O75330-3; Sequence=VSP_038378; Name=4; IsoId=O75330-4; Sequence=VSP_041266; 

location:
SUBCELLULAR LOCATION: Cell surface {ECO:0000250|UniProtKB:Q00547}. Cytoplasm {ECO:0000250|UniProtKB:Q00547}.


uniprotID: A8MVJ9
name: Putative histone PARylation factor 1-like
length: 347
sequence:


uniprotID: Q1KMD3
geneSymbol: HNRNPUL2
name: Heterogeneous nuclear ribonucleoprotein U-like protein 2 (Scaffold-attachment factor A2) (SAF-A2)
length: 747
go: ENSG00000214753;
opentargets: membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA binding [GO:0003723]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q00PI9}.
sequence:


uniprotID: Q9BUP3
geneSymbol: HTATIP2
pdb: 2BKA;
length: 242
go: ENSG00000109854;
snps: rs761113892 rs3824886
name:
Oxidoreductase HTATIP2 (EC 1.1.1.-) (30 kDa HIV-1 TAT-interacting protein) (HIV-1 TAT-interactive protein 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; nuclear envelope [GO:0005635]; nucleus [GO:0005634]; oxidoreductase activity [GO:0016491]; transcription coactivator activity [GO:0003713]; angiogenesis [GO:0001525]; apoptotic process [GO:0006915]; cell differentiation [GO:0030154]; import into nucleus [GO:0051170]; negative regulation of apoptotic process [GO:0043066]; regulation of angiogenesis [GO:0045765]; regulation of transcription by RNA polymerase II [GO:0006357]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1 {ECO:0000269|PubMed:9174052}; Synonyms=CC3 {ECO:0000303|PubMed:9174052}; IsoId=Q9BUP3-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:10611237, ECO:0000305}; Synonyms=TC3 {ECO:0000303|PubMed:10611237}; IsoId=Q9BUP3-2; Sequence=VSP_051864, VSP_051865; Note=Mutagenesis of Leu-154 and Leu-157 or Cys-158, Cys-160 and Cys-161 abolishes antiapoptotic effect.; Name=3; IsoId=Q9BUP3-3; Sequence=VSP_038339; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15282309}. Nucleus envelope {ECO:0000269|PubMed:15282309}.


uniprotID: O15066
geneSymbol: KIF3B
reactome: R-HSA-1445148;R-HSA-2132295;R-HSA-5620924;R-HSA-6811434;R-HSA-983189;
pdb: 3B6U;
length: 747
go: ENSG00000101350;
name:
Kinesin-like protein KIF3B (HH0048) (Microtubule plus end-directed kinesin motor 3B) [Cleaved into: Kinesin-like protein KIF3B, N-terminally processed]

sequence:

opentargets:
axon cytoplasm [GO:1904115]; centrosome [GO:0005813]; ciliary tip [GO:0097542]; cilium [GO:0005929]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; kinesin complex [GO:0005871]; kinesin II complex [GO:0016939]; membrane [GO:0016020]; microtubule [GO:0005874]; microtubule cytoskeleton [GO:0015630]; midbody [GO:0030496]; plus-end kinesin complex [GO:0005873]; spindle [GO:0005819]; ATP binding [GO:0005524]; ATP-dependent microtubule motor activity, plus-end-directed [GO:0008574]; ATPase activity [GO:0016887]; intraciliary transport particle B binding [GO:0120170]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; Rho GTPase binding [GO:0017048]; anterograde axonal transport [GO:0008089]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; determination of left/right symmetry [GO:0007368]; intraciliary transport involved in cilium assembly [GO:0035735]; microtubule-based movement [GO:0007018]; mitotic centrosome separation [GO:0007100]; mitotic spindle assembly [GO:0090307]; mitotic spindle organization [GO:0007052]; plus-end-directed vesicle transport along microtubule [GO:0072383]; positive regulation of cytokinesis [GO:0032467]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O15066-1; Sequence=Displayed; Name=2; IsoId=O15066-2; Sequence=VSP_056489, VSP_056490; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305}. Cell projection, cilium {ECO:0000250|UniProtKB:Q61771}.


uniprotID: Q06033
geneSymbol: ITIH3
reactome: R-HSA-114608;
length: 890
go: ENSG00000162267;
snps: rs3617 rs35271262 rs60805548 rs9883888 rs2710330 rs2710329
location: SUBCELLULAR LOCATION: Secreted.
name:
Inter-alpha-trypsin inhibitor heavy chain H3 (ITI heavy chain H3) (ITI-HC3) (Inter-alpha-inhibitor heavy chain 3) (Serum-derived hyaluronan-associated protein) (SHAP)

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; platelet dense granule lumen [GO:0031089]; endopeptidase inhibitor activity [GO:0004866]; serine-type endopeptidase inhibitor activity [GO:0004867]; hyaluronan metabolic process [GO:0030212]; platelet degranulation [GO:0002576]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q06033-1; Sequence=Displayed; Name=2; IsoId=Q06033-2; Sequence=VSP_029842; 


uniprotID: O60282
geneSymbol: KIF5C
reactome: R-HSA-264876;
name: Kinesin heavy chain isoform 5C (Kinesin heavy chain neuron-specific 2)
length: 957
go: ENSG00000168280;
snps: rs587777570 rs587777035
sequence:

opentargets:
axon cytoplasm [GO:1904115]; axonal growth cone [GO:0044295]; ciliary rootlet [GO:0035253]; dendrite cytoplasm [GO:0032839]; distal axon [GO:0150034]; kinesin complex [GO:0005871]; microtubule [GO:0005874]; neuronal cell body [GO:0043025]; synapse [GO:0045202]; ATP binding [GO:0005524]; ATP-dependent microtubule motor activity, plus-end-directed [GO:0008574]; ATPase activity [GO:0016887]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; anterograde axonal protein transport [GO:0099641]; anterograde dendritic transport of neurotransmitter receptor complex [GO:0098971]; axon guidance [GO:0007411]; microtubule-based movement [GO:0007018]; motor neuron axon guidance [GO:0008045]; mRNA transport [GO:0051028]; organelle organization [GO:0006996]; synaptic vesicle transport [GO:0048489]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60282-1; Sequence=Displayed; Name=2; IsoId=O60282-2; Sequence=VSP_035715, VSP_035716; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305}. Cell projection, dendrite {ECO:0000269|PubMed:24812067}. Note=Abundant in distal regions of dendrites. {ECO:0000269|PubMed:24812067}.


uniprotID: Q13683
geneSymbol: ITGA7
reactome: R-HSA-216083;R-HSA-3000157;R-HSA-3000178;
length: 1181
go: ENSG00000135424;
snps: rs17857367 rs17854599 rs17854598 rs1800974 rs17855684
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Integrin alpha-7 [Cleaved into: Integrin alpha-7 heavy chain; Integrin alpha-7 light chain; Integrin alpha-7 70 kDa form]

sequence:

opentargets:
cell surface [GO:0009986]; integrin complex [GO:0008305]; plasma membrane [GO:0005886]; metal ion binding [GO:0046872]; cell-matrix adhesion [GO:0007160]; endodermal cell differentiation [GO:0035987]; extracellular matrix organization [GO:0030198]; heterotypic cell-cell adhesion [GO:0034113]; integrin-mediated signaling pathway [GO:0007229]; muscle organ development [GO:0007517]; regulation of cell shape [GO:0008360]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Comment=Additional isoforms seem to exist. There is a combination of at least five alternatively spliced domains, three extracellular (X1, X2 and D) and two cytoplasmic (A and B). A third potential alternatively spliced cytoplasmic domain (C) does not appear to be expressed.; Name=Alpha-7X1X2B; IsoId=Q13683-1; Sequence=Displayed; Note=Gene prediction based on similarity to mouse ortholog.; Name=Alpha-7X1B; IsoId=Q13683-3; Sequence=VSP_002728; Name=Alpha-7X2B; IsoId=Q13683-7; Sequence=VSP_002727; Name=Alpha-7X2DB; IsoId=Q13683-9; Sequence=VSP_042364; Name=Alpha-7X1X2A; IsoId=Q13683-10; Sequence=VSP_002730; Name=2; IsoId=Q13683-13; Sequence=VSP_040487, VSP_040488, VSP_002728; 


uniprotID: P53708
geneSymbol: ITGA8
reactome: R-HSA-2129379;R-HSA-216083;R-HSA-3000178;
name: Integrin alpha-8 [Cleaved into: Integrin alpha-8 heavy chain; Integrin alpha-8 light chain]
length: 1063
go: ENSG00000077943;
snps: rs7895372 rs587777281 rs374664941 rs2298033 rs9333269 rs9333174 rs9333241 rs1041135
sequence:

opentargets:
apical part of cell [GO:0045177]; cell surface [GO:0009986]; dendritic spine membrane [GO:0032591]; endoplasmic reticulum [GO:0005783]; focal adhesion [GO:0005925]; integrin alpha8-beta1 complex [GO:0034678]; integrin complex [GO:0008305]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; metal ion binding [GO:0046872]; brain development [GO:0007420]; cell projection organization [GO:0030030]; cell-cell adhesion [GO:0098609]; cell-matrix adhesion [GO:0007160]; establishment of protein localization [GO:0045184]; extracellular matrix organization [GO:0030198]; inner ear morphogenesis [GO:0042472]; integrin-mediated signaling pathway [GO:0007229]; kidney development [GO:0001822]; memory [GO:0007613]; mesodermal cell differentiation [GO:0048333]; metanephros development [GO:0001656]; positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation [GO:2000721]; positive regulation of transforming growth factor beta receptor signaling pathway [GO:0030511]; smooth muscle tissue development [GO:0048745]; substrate adhesion-dependent cell spreading [GO:0034446]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:24439109}; Single-pass type I membrane protein {ECO:0000269|PubMed:24439109}. Cell membrane {ECO:0000269|PubMed:24439109}.


uniprotID: Q13797
geneSymbol: ITGA9
reactome: R-HSA-216083;R-HSA-3000178;R-HSA-445144;
name: Integrin alpha-9 (Integrin alpha-RLC)
length: 1035
go: ENSG00000144668;
snps: rs267561 rs781472543
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass type I membrane protein {ECO:0000255}.
sequence:

opentargets:
basal plasma membrane [GO:0009925]; integrin alpha9-beta1 complex [GO:0034679]; integrin complex [GO:0008305]; plasma membrane [GO:0005886]; collagen binding [GO:0005518]; laminin binding [GO:0043236]; metal ion binding [GO:0046872]; cell adhesion [GO:0007155]; extracellular matrix organization [GO:0030198]; integrin-mediated signaling pathway [GO:0007229]; neutrophil chemotaxis [GO:0030593]; wound healing [GO:0042060]


uniprotID: Q92845
geneSymbol: KIFAP3
reactome: R-HSA-1445148;R-HSA-2132295;R-HSA-5620924;R-HSA-6811434;R-HSA-983189;
name: Kinesin-associated protein 3 (KAP-3) (KAP3) (Smg GDS-associated protein)
length: 792
go: ENSG00000075945;
snps: rs12075833
sequence:

opentargets:
axoneme [GO:0005930]; centrosome [GO:0005813]; ciliary basal body [GO:0036064]; ciliary tip [GO:0097542]; cilium [GO:0005929]; condensed nuclear chromosome [GO:0000794]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; kinesin II complex [GO:0016939]; microtubule cytoskeleton [GO:0015630]; periciliary membrane compartment [GO:1990075]; photoreceptor connecting cilium [GO:0032391]; intraciliary transport particle B binding [GO:0120170]; kinesin binding [GO:0019894]; protein phosphatase binding [GO:0019903]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; intraciliary transport involved in cilium assembly [GO:0035735]; microtubule-based movement [GO:0007018]; microtubule-based process [GO:0007017]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell proliferation [GO:0008285]; plus-end-directed vesicle transport along microtubule [GO:0072383]; positive regulation of calcium-dependent cell-cell adhesion [GO:0046587]; protein localization [GO:0008104]; protein-containing complex assembly [GO:0065003]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q92845-1; Sequence=Displayed; Name=2; IsoId=Q92845-2; Sequence=VSP_044505; Note=No experimental confirmation available.; Name=3; IsoId=Q92845-3; Sequence=VSP_047133; Note=No experimental confirmation available.; Name=4; IsoId=Q92845-4; Sequence=VSP_047132; 


uniprotID: Q9UKP3
geneSymbol: ITGB1BP2
name: Integrin beta-1-binding protein 2 (Melusin)
length: 347
go: ENSG00000147166;
sequence:

opentargets:
Z disc [GO:0030018]; calcium ion binding [GO:0005509]; integrin binding [GO:0005178]; SH3 domain binding [GO:0017124]; zinc ion binding [GO:0008270]; muscle organ development [GO:0007517]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UKP3-1; Sequence=Displayed; Name=2; IsoId=Q9UKP3-2; Sequence=VSP_056379; Note=No experimental confirmation available.; 


uniprotID: Q6IE81
geneSymbol: JADE1
reactome: R-HSA-3214847;
name: Protein Jade-1 (Jade family PHD finger protein 1) (PHD finger protein 17)
length: 842
go: ENSG00000077684;
snps: rs6855813
sequence:

opentargets:
ciliary basal body [GO:0036064]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; histone acetyltransferase complex [GO:0000123]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; metal ion binding [GO:0046872]; transcription coactivator activity [GO:0003713]; apoptotic process [GO:0006915]; histone H3 acetylation [GO:0043966]; histone H4-K12 acetylation [GO:0043983]; histone H4-K5 acetylation [GO:0043981]; histone H4-K8 acetylation [GO:0043982]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cell growth [GO:0030308]; negative regulation of G1/S transition of mitotic cell cycle [GO:2000134]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=JADE1L; IsoId=Q6IE81-1; Sequence=Displayed; Name=2; IsoId=Q6IE81-2; Sequence=VSP_021045; Note=No experimental confirmation available.; Name=3; Synonyms=JADE1S; IsoId=Q6IE81-3; Sequence=VSP_021046, VSP_021047; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12169691, ECO:0000269|PubMed:15502158}. Nucleus {ECO:0000269|PubMed:15502158, ECO:0000269|PubMed:22654112}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:22654112}. Note=Localizes to the ciliary transition zone. {ECO:0000269|PubMed:22654112}.


uniprotID: Q8IYV9
geneSymbol: IZUMO1
reactome: R-HSA-1300652;
pdb: 5F4E;5F4T;5F4V;5JK9;5JKC;5JKD;5JKE;
length: 350
go: ENSG00000182264;
snps: rs2307019
name:
Izumo sperm-egg fusion protein 1 (Oocyte binding/fusion factor) (OBF) (Sperm-specific protein izumo)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; protein binding involved in heterotypic cell-cell adhesion [GO:0086080]; protein homodimerization activity [GO:0042803]; signaling receptor binding [GO:0005102]; cell adhesion [GO:0007155]; fusion of sperm to egg plasma membrane involved in single fertilization [GO:0007342]; heterotypic cell-cell adhesion [GO:0034113]; single fertilization [GO:0007338]; sperm-egg recognition [GO:0035036]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IYV9-1; Sequence=Displayed; Name=2; IsoId=Q8IYV9-2; Sequence=VSP_016962, VSP_016963; Note=No experimental confirmation available.; Name=3; IsoId=Q8IYV9-3; Sequence=VSP_016960, VSP_016961; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15759005}; Single-pass type I membrane protein {ECO:0000255}. Cytoplasmic vesicle, secretory vesicle, acrosome membrane {ECO:0000250|UniProtKB:Q9D9J7}; Single-pass type I membrane protein {ECO:0000255}. Note=Localizes initially to the acrosome membrane of the sperm head (both outer and inner acrosomal membranes) (By similarity). During the acrosome reaction, translocates to the plasma membrane (PubMed:15759005). {ECO:0000250|UniProtKB:Q9D9J7, ECO:0000269|PubMed:15759005}.


uniprotID: P57087
geneSymbol: JAM2
reactome: R-HSA-202733;R-HSA-216083;
length: 298
go: ENSG00000154721;
snps: rs9976382
name:
Junctional adhesion molecule B (JAM-B) (Junctional adhesion molecule 2) (JAM-2) (Vascular endothelial junction-associated molecule) (VE-JAM) (CD antigen CD322)

sequence:

opentargets:
bicellular tight junction [GO:0005923]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; protein heterodimerization activity [GO:0046982]; cell-cell adhesion [GO:0098609]; extracellular matrix organization [GO:0030198]; leukocyte migration [GO:0050900]; negative regulation of cell adhesion [GO:0007162]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P57087-1; Sequence=Displayed; Name=2; IsoId=P57087-2; Sequence=VSP_045153; Name=3; IsoId=P57087-3; Sequence=VSP_047352; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell junction, tight junction {ECO:0000250}. Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Note=Localized at tight junctions of both epithelial and endothelial cells. {ECO:0000250}.


uniprotID: A6ND01
geneSymbol: IZUMO1R
reactome: R-HSA-163125;
pdb: 5F4E;5F4Q;5JKA;5JKB;5JKC;5JKD;5JKE;
length: 250
go: ENSG00000183560;
name:
Sperm-egg fusion protein Juno (Folate receptor 4) (Folate receptor delta) (FR-delta) (IZUMO1 receptor protein JUNO)

sequence:

opentargets:
anchored component of external side of plasma membrane [GO:0031362]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]; signaling receptor activity [GO:0038023]; cell adhesion [GO:0007155]; fusion of sperm to egg plasma membrane involved in single fertilization [GO:0007342]; single fertilization [GO:0007338]; sperm-egg recognition [GO:0035036]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A6ND01-1; Sequence=Displayed; Note=No experimental confirmation available. Gene prediction based on EST data.; Name=2; IsoId=A6ND01-2; Sequence=VSP_040470; Note=No experimental confirmation available. Gene prediction based on similarity to orthologs.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q9EQF4}; Lipid-anchor, GPI-anchor {ECO:0000250|UniProtKB:Q9EQF4}. Note=GPI-anchored at the oolemma. {ECO:0000250|UniProtKB:Q9EQF4}.


uniprotID: Q96ED9
geneSymbol: HOOK2
name: Protein Hook homolog 2 (h-hook2) (hHK2)
length: 719
go: ENSG00000095066;
snps: rs2305376 rs897804
sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; FHF complex [GO:0070695]; intracellular membrane-bounded organelle [GO:0043231]; microtubule [GO:0005874]; dynein light intermediate chain binding [GO:0051959]; identical protein binding [GO:0042802]; microtubule binding [GO:0008017]; cytoplasmic microtubule organization [GO:0031122]; cytoskeleton-dependent intracellular transport [GO:0030705]; early endosome to late endosome transport [GO:0045022]; endocytosis [GO:0006897]; endosome organization [GO:0007032]; endosome to lysosome transport [GO:0008333]; lysosome organization [GO:0007040]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96ED9-1; Sequence=Displayed; Name=2; IsoId=Q96ED9-2; Sequence=VSP_009342; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:17140400}. Cytoplasm. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q7TMK6}. Note=Colocalizes with aggresomes, which are aggregates of misfolded proteins, at the centrosome (PubMed:17540036). Also localizes to punctate cytoplasmic foci which do not appear to overlap with early or late endosomes, the endoplasmic reticulum, the Golgi complex, multivesicular bodies (MVBs), lysosome, or mitochondria (PubMed:17540036). Often found in close association with microtubules (PubMed:17540036). Localizes to the manchette in elongating spermatids (By similarity). {ECO:0000250|UniProtKB:Q7TMK6, ECO:0000269|PubMed:17540036}.


uniprotID: P84074
geneSymbol: HPCA
pdb: 5G4P;5G58;5M6C;
name: Neuron-specific calcium-binding protein hippocalcin (Calcium-binding protein BDR-2)
length: 193
go: ENSG00000121905;
snps: rs11554958 rs775863165 rs786205675 rs550921485
sequence:
MGKQNSKLRPEMLQDLRENTEFSELELQEWYKGFLKDCPTGILNVDEFKKIYANFFPYGDASKFAEHVFRTFDTNSDGTIDFREFIIALSVTSRGRLEQKLMWAFSMYDLDGNGYISREEMLEIVQAIYKMVSSVMKMPEDESTPEKRTEKIFRQMDTNNDGKLSLEEFIRGAKSDPSIVRLLQCDPSSASQF

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite cytoplasm [GO:0032839]; dendrite membrane [GO:0032590]; dendritic spine head [GO:0044327]; extrinsic component of membrane [GO:0019898]; glutamatergic synapse [GO:0098978]; neuronal cell body membrane [GO:0032809]; perikaryon [GO:0043204]; actin binding [GO:0003779]; calcium ion binding [GO:0005509]; identical protein binding [GO:0042802]; kinase binding [GO:0019900]; activation of phospholipase D activity [GO:0031584]; brain development [GO:0007420]; calcium-mediated signaling [GO:0019722]; cellular response to calcium ion [GO:0071277]; cellular response to electrical stimulus [GO:0071257]; cellular response to monosodium glutamate [GO:1904009]; inner ear development [GO:0048839]; negative regulation of guanylate cyclase activity [GO:0031283]; positive regulation of adenylate cyclase activity [GO:0045762]; positive regulation of protein targeting to membrane [GO:0090314]; regulation of postsynaptic neurotransmitter receptor internalization [GO:0099149]; regulation of voltage-gated calcium channel activity [GO:1901385]; response to Aroclor 1254 [GO:1904010]; response to ketamine [GO:1901986]; response to L-glutamate [GO:1902065]; retina development in camera-type eye [GO:0060041]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:P84076, ECO:0000269|PubMed:28398555}. Membrane {ECO:0000250|UniProtKB:P84076}; Peripheral membrane protein {ECO:0000250|UniProtKB:P84076}. Note=Association with membranes is calcium-dependent (By similarity). Enriched in the perinuclear region, probably at the trans Golgi network in response to calcium (PubMed:28398555). {ECO:0000250|UniProtKB:P84076, ECO:0000269|PubMed:28398555}.


uniprotID: Q9NWW9
geneSymbol: HRASLS2
reactome: R-HSA-1482839;
pdb: 4DPZ;
name: HRAS-like suppressor 2 (EC 2.3.1.-) (EC 3.1.1.-)
length: 162
go: ENSG00000133328;
sequence:
MALARPRPRLGDLIEISRFGYAHWAIYVGDGYVVHLAPASEIAGAGAASVLSALTNKAIVKKELLSVVAGGDNYRVNNKHDDRYTPLPSNKIVKRAEELVGQELPYSLTSDNCEHFVNHLRYGVSRSDQVTGAVTTVGVAAGLLAAASLVGILLARSKRERQ

opentargets:
cytosol [GO:0005829]; integral component of membrane [GO:0016021]; hydrolase activity [GO:0016787]; transferase activity, transferring acyl groups [GO:0016746]; lipid catabolic process [GO:0016042]; phosphatidylethanolamine acyl-chain remodeling [GO:0036152]

location:
SUBCELLULAR LOCATION: Cytoplasm. Membrane; Single-pass membrane protein. Note=Exhibits a granular pattern in the cytoplasm with preferential perinuclear localization.


uniprotID: Q9Y278
geneSymbol: HS3ST2
reactome: R-HSA-2022928;
length: 367
go: ENSG00000122254;
snps: rs17725080
name:
Heparan sulfate glucosamine 3-O-sulfotransferase 2 (EC 2.8.2.29) (Heparan sulfate D-glucosaminyl 3-O-sulfotransferase 2) (3-OST-2) (Heparan sulfate 3-O-sulfotransferase 2) (h3-OST-2)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity [GO:0008467]; [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity [GO:0033871]; sulfotransferase activity [GO:0008146]; circadian rhythm [GO:0007623]; glycosaminoglycan biosynthetic process [GO:0006024]


uniprotID: C9JCN9
geneSymbol: HSBP1L1
name: Heat shock factor-binding protein 1-like protein 1
sequence: MDVRGPEAPGGRALRDAAENLFQELQEHFQALTATLNLRMEEMGNRIEDLQKNVKDLMVQAGIENSIKEQMLKT
length: 74
go: ENSG00000226742;
opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; transcription corepressor activity [GO:0003714]; cellular heat acclimation [GO:0070370]


uniprotID: O43464
geneSymbol: HTRA2
pdb: 1LCY;2PZD;5FHT;5M3N;5M3O;5TNY;5TNZ;5TO0;5TO1;5WYN;
length: 458
go: ENSG00000115317;
snps: rs775840965 rs150047108 rs757704467 rs72470544 rs375322953 rs1057519082 rs72470545 rs767006508
name:
Serine protease HTRA2, mitochondrial (EC 3.4.21.108) (High temperature requirement protein A2) (HtrA2) (Omi stress-regulated endoprotease) (Serine protease 25) (Serine proteinase OMI)

sequence:

opentargets:
CD40 receptor complex [GO:0035631]; chromatin [GO:0000785]; cytoplasmic side of plasma membrane [GO:0009898]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; membrane [GO:0016020]; mitochondrial intermembrane space [GO:0005758]; mitochondrial membrane [GO:0031966]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; serine-type endopeptidase complex [GO:1905370]; identical protein binding [GO:0042802]; peptidase activity [GO:0008233]; serine-type endopeptidase activity [GO:0004252]; serine-type peptidase activity [GO:0008236]; unfolded protein binding [GO:0051082]; adult walking behavior [GO:0007628]; aging [GO:0007568]; cellular protein catabolic process [GO:0044257]; cellular response to growth factor stimulus [GO:0071363]; cellular response to heat [GO:0034605]; cellular response to interferon-beta [GO:0035458]; cellular response to oxidative stress [GO:0034599]; cellular response to retinoic acid [GO:0071300]; ceramide metabolic process [GO:0006672]; execution phase of apoptosis [GO:0097194]; forebrain development [GO:0030900]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; mitochondrion organization [GO:0007005]; negative regulation of cell cycle [GO:0045786]; negative regulation of mitophagy in response to mitochondrial depolarization [GO:1904924]; negative regulation of neuron death [GO:1901215]; negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway [GO:1902176]; neuron development [GO:0048666]; pentacyclic triterpenoid metabolic process [GO:0019742]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cell death [GO:0010942]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway [GO:2001269]; positive regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001241]; positive regulation of mitochondrion organization [GO:0010822]; positive regulation of protein targeting to mitochondrion [GO:1903955]; protein autoprocessing [GO:0016540]; protein homotrimerization [GO:0070207]; proteolysis [GO:0006508]; regulation of autophagy of mitochondrion [GO:1903146]; regulation of multicellular organism growth [GO:0040014]; response to herbicide [GO:0009635]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=13B; IsoId=O43464-1; Sequence=Displayed; Name=2; Synonyms=D-Omi; IsoId=O43464-2; Sequence=VSP_005359, VSP_005361; Name=3; Synonyms=p7; IsoId=O43464-3; Sequence=VSP_005360, VSP_005361; Name=4; Synonyms=p4; IsoId=O43464-4; Sequence=VSP_005362; 

location:
SUBCELLULAR LOCATION: Mitochondrion intermembrane space. Mitochondrion membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Note=Predominantly present in the intermembrane space. Released into the cytosol following apoptotic stimuli, such as UV treatment, and stimulation of mitochondria with caspase-8 truncated BID/tBID.


uniprotID: O95965
geneSymbol: ITGBL1
reactome: R-HSA-8941332;
length: 494
go: ENSG00000198542;
snps: rs1140605
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Integrin beta-like protein 1 (Osteoblast-specific cysteine-rich protein) (Ten integrin EGF-like repeat domain-containing protein)

sequence:

opentargets:
cell surface [GO:0009986]; extracellular region [GO:0005576]; focal adhesion [GO:0005925]; integrin complex [GO:0008305]; plasma membrane [GO:0005886]; integrin binding [GO:0005178]; cell adhesion [GO:0007155]; cell adhesion mediated by integrin [GO:0033627]; cell migration [GO:0016477]; cell-matrix adhesion [GO:0007160]; integrin-mediated signaling pathway [GO:0007229]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O95965-1; Sequence=Displayed; Name=2; IsoId=O95965-2; Sequence=VSP_054799; Note=No experimental confirmation available.; Name=3; IsoId=O95965-3; Sequence=VSP_054800; Note=No experimental confirmation available.; 


uniprotID: Q6ZRS4
geneSymbol: ITPRID1
length: 1044
go: ENSG00000180347;
opentargets: signaling receptor binding [GO:0005102]
snps: rs7811042 rs10252720 rs4141001 rs10247620 rs7799540
name:
Protein ITPRID1 (Coiled-coil domain-containing protein 129) (ITPR-interacting domain-containing protein 1)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6ZRS4-1; Sequence=Displayed; Name=2; IsoId=Q6ZRS4-2; Sequence=VSP_039587; Note=No experimental confirmation available.; Name=3; IsoId=Q6ZRS4-3; Sequence=VSP_039586; Note=No experimental confirmation available.; Name=4; IsoId=Q6ZRS4-4; Sequence=VSP_045000, VSP_045001; Note=No experimental confirmation available.; 


uniprotID: Q2VIQ3
geneSymbol: KIF4B
reactome: R-HSA-2132295;R-HSA-437239;R-HSA-6811434;R-HSA-983189;
name: Chromosome-associated kinesin KIF4B (Chromokinesin-B)
length: 1234
go: ENSG00000226650;
snps: rs17116709 rs6580126 rs17116710 rs10056252
location: SUBCELLULAR LOCATION: Nucleus matrix {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000305}.
sequence:

opentargets:
cytosol [GO:0005829]; intercellular bridge [GO:0045171]; kinesin complex [GO:0005871]; microtubule [GO:0005874]; nuclear matrix [GO:0016363]; nucleoplasm [GO:0005654]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; DNA binding [GO:0003677]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; microtubule-based movement [GO:0007018]; mitotic cytokinesis [GO:0000281]; mitotic spindle midzone assembly [GO:0051256]; mitotic spindle organization [GO:0007052]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]


uniprotID: Q9BY32
geneSymbol: ITPA
reactome: R-HSA-74259;
pdb: 2CAR;2I5D;2J4E;4F95;
length: 194
go: ENSG00000125877;
drug: DB04272;
snps: rs1127354 rs746930990
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03148, ECO:0000269|PubMed:11278832}.
name:
Inosine triphosphate pyrophosphatase (ITPase) (Inosine triphosphatase) (EC 3.6.1.9) (Non-canonical purine NTP pyrophosphatase) (Non-standard purine NTP pyrophosphatase) (Nucleoside-triphosphate diphosphatase) (Nucleoside-triphosphate pyrophosphatase) (NTPase) (Putative oncogene protein hlc14-06-p)

sequence:
MAASLVGKKIVFVTGNAKKLEEVVQILGDKFPCTLVAQKIDLPEYQGEPDEISIQKCQEAVRQVQGPVLVEDTCLCFNALGGLPGPYIKWFLEKLKPEGLHQLLAGFEDKSAYALCTFALSTGDPSQPVRLFRGRTSGRIVAPRGCQDFGWDPCFQPDGYEQTYAEMPKAEKNAVSHRFRALLELQEYFGSLAA

opentargets:
cytosol [GO:0005829]; dITP diphosphatase activity [GO:0035870]; identical protein binding [GO:0042802]; ITP diphosphatase activity [GO:0036220]; metal ion binding [GO:0046872]; NADH pyrophosphatase activity [GO:0035529]; nucleoside-triphosphate diphosphatase activity [GO:0047429]; nucleotide binding [GO:0000166]; XTP diphosphatase activity [GO:0036222]; chromosome organization [GO:0051276]; deoxyribonucleoside triphosphate catabolic process [GO:0009204]; ITP catabolic process [GO:0006193]; nucleoside triphosphate catabolic process [GO:0009143]; purine nucleotide catabolic process [GO:0006195]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BY32-1; Sequence=Displayed; Name=2; IsoId=Q9BY32-2; Sequence=VSP_042548; Note=No experimental confirmation available.; Name=3; IsoId=Q9BY32-3; Sequence=VSP_045545; Note=No experimental confirmation available.; 


uniprotID: Q2M1P5
geneSymbol: KIF7
reactome: R-HSA-5610787;R-HSA-5632684;
pdb: 2XT3;4A14;
name: Kinesin-like protein KIF7
length: 1343
go: ENSG00000166813;
sequence:

opentargets:
ciliary basal body [GO:0036064]; ciliary tip [GO:0097542]; cilium [GO:0005929]; cytoplasm [GO:0005737]; kinesin complex [GO:0005871]; microtubule [GO:0005874]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; microtubule-based movement [GO:0007018]; negative regulation of smoothened signaling pathway [GO:0045879]; positive regulation of smoothened signaling pathway [GO:0045880]

snps:
rs8179065 rs180758272 rs115857753 rs137905815 rs149078926 rs143915145 rs138354681 rs3803530 rs146626238 rs138410949 rs12900805 rs886039282 rs147191956 rs142032413 rs202195179 

location:
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000269|PubMed:19592253}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:B7ZNG0}. Note=Localizes to the cilium tip.


uniprotID: Q9BW19
geneSymbol: KIFC1
reactome: R-HSA-6811434;R-HSA-983189;
pdb: 5WDH;
name: Kinesin-like protein KIFC1 (Kinesin-like protein 2) (Kinesin-related protein HSET)
length: 673
go: ENSG00000237649;
snps: rs61736175
sequence:

opentargets:
early endosome [GO:0005769]; kinesin complex [GO:0005871]; membrane [GO:0016020]; microtubule [GO:0005874]; microtubule organizing center [GO:0005815]; mitotic spindle [GO:0072686]; nucleus [GO:0005634]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; cell division [GO:0051301]; microtubule-based movement [GO:0007018]; mitotic metaphase plate congression [GO:0007080]; mitotic sister chromatid segregation [GO:0000070]; mitotic spindle assembly [GO:0090307]; spermatogenesis [GO:0007283]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q9QWT9}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250|UniProtKB:Q9QWT9}. Cytoplasm, cytoskeleton, spindle {ECO:0000250|UniProtKB:Q9QWT9}. Early endosome {ECO:0000250|UniProtKB:Q9QWT9}. Note=Associated with nucleus during interphase, centrosomes in early and spindle in later mitosis. {ECO:0000250|UniProtKB:Q9QWT9}.


uniprotID: P20701
geneSymbol: ITGAL
reactome: R-HSA-198933;R-HSA-202733;R-HSA-216083;R-HSA-6798695;R-HSA-8949275;
length: 1170
go: ENSG00000005844;
drug: DB02177;DB00098;DB00095;DB03932;DB11611;DB00227;
snps: rs34166708 rs1064524 rs34838942 rs2230433
pdb:
1CQP;1DGQ;1IJ4;1LFA;1MJN;1MQ8;1MQ9;1MQA;1RD4;1T0P;1XDD;1XDG;1XUO;1ZON;1ZOO;1ZOP;2ICA;2K8O;2M3E;2O7N;3BN3;3BQM;3BQN;3E2M;3EOA;3EOB;3F74;3F78;3HI6;3M6F;3TCX;4IXD;5E6R;5E6S;5E6U;6BXB;6BXF;6CKB;

name:
Integrin alpha-L (CD11 antigen-like family member A) (Leukocyte adhesion glycoprotein LFA-1 alpha chain) (LFA-1A) (Leukocyte function-associated molecule 1 alpha chain) (CD antigen CD11a)

sequence:

opentargets:
cell surface [GO:0009986]; extracellular exosome [GO:0070062]; integrin alphaL-beta2 complex [GO:0034687]; integrin complex [GO:0008305]; membrane [GO:0016020]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; cell adhesion molecule binding [GO:0050839]; ICAM-3 receptor activity [GO:0030369]; metal ion binding [GO:0046872]; protein heterodimerization activity [GO:0046982]; protein-containing complex binding [GO:0044877]; cell adhesion [GO:0007155]; cell-cell adhesion [GO:0098609]; cell-matrix adhesion [GO:0007160]; extracellular matrix organization [GO:0030198]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; inflammatory response [GO:0006954]; integrin-mediated signaling pathway [GO:0007229]; leukocyte cell-cell adhesion [GO:0007159]; leukocyte migration [GO:0050900]; neutrophil degranulation [GO:0043312]; phagocytosis [GO:0006909]; receptor clustering [GO:0043113]; regulation of immune response [GO:0050776]; signal transduction [GO:0007165]; T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell [GO:0002291]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P20701-1; Sequence=Displayed; Name=2; IsoId=P20701-2; Sequence=VSP_002738; Note=No experimental confirmation available.; Name=3; IsoId=P20701-3; Sequence=VSP_042842, VSP_042843; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:16301335}; Single-pass type I membrane protein {ECO:0000255}.


uniprotID: P13647
geneSymbol: KRT5
reactome: R-HSA-446107;R-HSA-6805567;R-HSA-6809371;
pdb: 3TNU;
length: 590
go: ENSG00000186081;
name:
Keratin, type II cytoskeletal 5 (58 kDa cytokeratin) (Cytokeratin-5) (CK-5) (Keratin-5) (K5) (Type-II keratin Kb5)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intermediate filament [GO:0005882]; keratin filament [GO:0045095]; membrane [GO:0016020]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; scaffold protein binding [GO:0097110]; structural constituent of cytoskeleton [GO:0005200]; cornification [GO:0070268]; epidermis development [GO:0008544]; hemidesmosome assembly [GO:0031581]; keratinization [GO:0031424]

snps:
rs57499817 rs1065115 rs11170164 rs59851104 rs60617604 rs61222761 rs58058996 rs267607456 rs57378129 rs58619430 rs60720877 rs59115483 rs58163069 rs57890479 rs59092197 rs61495052 rs57781042 rs60715293 rs267607457 rs121912475 rs121912475 rs58976397 rs57751134 rs60586163 rs641615 rs58766676 rs200333163 rs59864957 rs59840738 rs59335325 rs58107458 rs58072617 rs58072617 rs59464425 rs57142010 rs56790237 rs57142010 rs59730172 rs61297109 rs56729325 rs59112594 rs2669875 rs60809982 rs121912476 rs267607458 rs57845028 rs57599352 rs60271599 rs60596287 rs61348633 rs57155193 rs59190510 rs58608695 rs11549950 rs11549949 


uniprotID: Q14667
geneSymbol: KIAA0100
name: Protein KIAA0100 (Antigen MLAA-22) (Breast cancer-overexpressed gene 1 protein)
length: 2235
go: ENSG00000007202;
opentargets: extracellular region [GO:0005576]
snps: rs16964472 rs12602520 rs16964462
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q14667-1; Sequence=Displayed; Name=2; IsoId=Q14667-2; Sequence=VSP_020321; Note=No experimental confirmation available.; Name=3; IsoId=Q14667-3; Sequence=VSP_020317, VSP_020322; Name=4; IsoId=Q14667-4; Sequence=VSP_020318, VSP_020319, VSP_020320; 


uniprotID: O95678
geneSymbol: KRT75
reactome: R-HSA-6805567;R-HSA-6809371;
length: 551
go: ENSG00000170454;
name:
Keratin, type II cytoskeletal 75 (Cytokeratin-75) (CK-75) (Keratin-6 hair follicle) (hK6hf) (Keratin-75) (K75) (Type II keratin-K6hf) (Type-II keratin Kb18)

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]; hematopoietic progenitor cell differentiation [GO:0002244]; keratinization [GO:0031424]

snps:
rs2232384 rs298109 rs2232386 rs2232387 rs2232390 rs2232393 rs2232398 rs2232402 rs2232405 rs2232406 rs298104 


uniprotID: Q6A163
geneSymbol: KRT39
reactome: R-HSA-6805567;R-HSA-6809371;
length: 491
go: ENSG00000196859;
snps: rs17843021 rs17843023 rs7213256
name:
Keratin, type I cytoskeletal 39 (Cytokeratin-39) (CK-39) (Keratin-39) (K39) (Type I hair keratin Ka35)

sequence:

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


uniprotID: Q9NQG7
geneSymbol: HPS4
reactome: R-HSA-8876198;
name: Hermansky-Pudlak syndrome 4 protein (Light-ear protein homolog)
length: 708
go: ENSG00000100099;
snps: rs713998 rs2014410 rs5752330 rs1894706 rs1894704
sequence:

opentargets:
BLOC-3 complex [GO:0031085]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; lysosome [GO:0005764]; melanosome [GO:0042470]; membrane [GO:0016020]; platelet dense granule [GO:0042827]; guanyl-nucleotide exchange factor activity [GO:0005085]; protein dimerization activity [GO:0046983]; protein homodimerization activity [GO:0042803]; Rab GTPase binding [GO:0017137]; blood coagulation [GO:0007596]; hemostasis [GO:0007599]; lysosome organization [GO:0007040]; melanocyte differentiation [GO:0030318]; melanosome assembly [GO:1903232]; positive regulation of eye pigmentation [GO:0048075]; positive regulation of protein targeting to mitochondrion [GO:1903955]; protein stabilization [GO:0050821]; protein targeting [GO:0006605]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9NQG7-1; Sequence=Displayed; Name=2; IsoId=Q9NQG7-2; Sequence=VSP_003880, VSP_003881, VSP_003882; Note=No experimental confirmation available.; Name=3; IsoId=Q9NQG7-3; Sequence=VSP_017082; Note=No experimental confirmation available.; Name=4; IsoId=Q9NQG7-4; Sequence=VSP_017082, VSP_003880; Note=No experimental confirmation available.; 


uniprotID: P18084
geneSymbol: ITGB5
reactome: R-HSA-1236973;R-HSA-2129379;R-HSA-216083;R-HSA-3000170;R-HSA-3000178;R-HSA-445355;
name: Integrin beta-5
length: 799
go: ENSG00000082781;
snps: rs2291090 rs2291089 rs2291087
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
cell surface [GO:0009986]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; integrin alphav-beta5 complex [GO:0034684]; integrin complex [GO:0008305]; phagocytic vesicle [GO:0045335]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; integrin binding [GO:0005178]; signaling receptor activity [GO:0038023]; virus receptor activity [GO:0001618]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; cell adhesion mediated by integrin [GO:0033627]; cell migration [GO:0016477]; cell-matrix adhesion [GO:0007160]; endodermal cell differentiation [GO:0035987]; epithelial cell-cell adhesion [GO:0090136]; extracellular matrix organization [GO:0030198]; integrin-mediated signaling pathway [GO:0007229]; muscle contraction [GO:0006936]; stress fiber assembly [GO:0043149]; transforming growth factor beta receptor signaling pathway [GO:0007179]


uniprotID: Q8WWA0
geneSymbol: ITLN1
reactome: R-HSA-6803157;
pdb: 4WMQ;4WMY;
length: 313
go: ENSG00000179914;
snps: rs2274907 rs8144
name:
Intelectin-1 (ITLN-1) (Endothelial lectin HL-1) (Galactofuranose-binding lectin) (Intestinal lactoferrin receptor) (Omentin)

sequence:

opentargets:
anchored component of membrane [GO:0031225]; brush border membrane [GO:0031526]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; membrane raft [GO:0045121]; receptor complex [GO:0043235]; calcium ion binding [GO:0005509]; identical protein binding [GO:0042802]; oligosaccharide binding [GO:0070492]; antimicrobial humoral response [GO:0019730]; positive regulation of glucose import [GO:0046326]; positive regulation of protein phosphorylation [GO:0001934]; protein homotrimerization [GO:0070207]; response to nematode [GO:0009624]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305|PubMed:11747454}; Lipid-anchor, GPI-anchor {ECO:0000305|PubMed:11747454}. Secreted {ECO:0000269|PubMed:11313366, ECO:0000269|PubMed:16531507, ECO:0000305|PubMed:11747454}. Note=Enriched in lipid rafts. {ECO:0000250|UniProtKB:O88310}.


uniprotID: P26012
geneSymbol: ITGB8
reactome: R-HSA-2129379;R-HSA-216083;
pdb: 6DJP;
name: Integrin beta-8
length: 769
go: ENSG00000105855;
snps: rs5002476
sequence:

opentargets:
cell surface [GO:0009986]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; integrin alphav-beta8 complex [GO:0034686]; integrin complex [GO:0008305]; plasma membrane [GO:0005886]; extracellular matrix protein binding [GO:1990430]; integrin binding [GO:0005178]; signaling receptor activity [GO:0038023]; cartilage development [GO:0051216]; cell adhesion [GO:0007155]; cell adhesion mediated by integrin [GO:0033627]; cell migration [GO:0016477]; extracellular matrix organization [GO:0030198]; ganglioside metabolic process [GO:0001573]; integrin-mediated signaling pathway [GO:0007229]; negative regulation of gene expression [GO:0010629]; placenta blood vessel development [GO:0060674]; positive regulation of angiogenesis [GO:0045766]; positive regulation of gene expression [GO:0010628]; regulation of transforming growth factor beta activation [GO:1901388]; vasculogenesis [GO:0001570]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P26012-1; Sequence=Displayed; Name=2; IsoId=P26012-2; Sequence=VSP_056531; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:1918072}; Single-pass type I membrane protein {ECO:0000255}.


uniprotID: P38570
geneSymbol: ITGAE
reactome: R-HSA-216083;
length: 1179
go: ENSG00000083457;
snps: rs220479 rs2272606 rs3744679 rs1716 rs2976230
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Integrin alpha-E (HML-1 antigen) (Integrin alpha-IEL) (Mucosal lymphocyte 1 antigen) (CD antigen CD103) [Cleaved into: Integrin alpha-E light chain; Integrin alpha-E heavy chain]

sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integrin complex [GO:0008305]; plasma membrane [GO:0005886]; metal ion binding [GO:0046872]; cell adhesion [GO:0007155]; extracellular matrix organization [GO:0030198]; integrin-mediated signaling pathway [GO:0007229]


uniprotID: Q5VZ72
geneSymbol: IZUMO3
reactome: R-HSA-1300652;
name: Izumo sperm-egg fusion protein 3
length: 239
go: ENSG00000205442;
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; protein homodimerization activity [GO:0042803]


uniprotID: Q1ZYL8
geneSymbol: IZUMO4
reactome: R-HSA-1300652;
name: Izumo sperm-egg fusion protein 4 (Sperm 22 kDa protein c113)
length: 232
go: ENSG00000099840;
opentargets: extracellular region [GO:0005576]; nucleus [GO:0005634]
snps: rs17851210 rs35585208 rs45506200
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q1ZYL8-1; Sequence=Displayed; Name=2; IsoId=Q1ZYL8-2; Sequence=VSP_023150; Name=3; IsoId=Q1ZYL8-3; Sequence=VSP_023147, VSP_023148; Name=4; IsoId=Q1ZYL8-4; Sequence=VSP_023149; 


uniprotID: Q9UQF2
geneSymbol: MAPK8IP1
length: 711
go: ENSG00000121653;
snps: rs119489103 rs34420676 rs12295161
pdb:
2G01;2GMX;2H96;3OXI;3PTG;3VUD;3VUG;3VUH;3VUI;3VUK;3VUL;3VUM;4E73;4G1W;4H39;4HYS;4HYU;4IZY;5LW1;6FUZ;

name:
C-Jun-amino-terminal kinase-interacting protein 1 (JIP-1) (JNK-interacting protein 1) (Islet-brain 1) (IB-1) (JNK MAP kinase scaffold protein 1) (Mitogen-activated protein kinase 8-interacting protein 1)

sequence:

opentargets:
axonal growth cone [GO:0044295]; cell body [GO:0044297]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendritic growth cone [GO:0044294]; dentate gyrus mossy fiber [GO:0044302]; endoplasmic reticulum membrane [GO:0005789]; mitochondrial membrane [GO:0031966]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; synapse [GO:0045202]; JUN kinase binding [GO:0008432]; kinesin binding [GO:0019894]; MAP-kinase scaffold activity [GO:0005078]; mitogen-activated protein kinase kinase binding [GO:0031434]; mitogen-activated protein kinase kinase kinase binding [GO:0031435]; protein kinase inhibitor activity [GO:0004860]; JUN phosphorylation [GO:0007258]; negative regulation of intrinsic apoptotic signaling pathway [GO:2001243]; negative regulation of JUN kinase activity [GO:0043508]; positive regulation of JNK cascade [GO:0046330]; regulation of CD8-positive, alpha-beta T cell proliferation [GO:2000564]; regulation of JNK cascade [GO:0046328]; regulation of transcription, DNA-templated [GO:0006355]; vesicle-mediated transport [GO:0016192]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cytoplasm, perinuclear region {ECO:0000250}. Nucleus {ECO:0000250}. Endoplasmic reticulum membrane. Mitochondrion membrane. Note=Accumulates in cell surface projections. Under certain stress conditions, translocates to the perinuclear region of neurons. In insulin-secreting cells, detected in both the cytoplasm and nucleus (By similarity). {ECO:0000250}.


uniprotID: Q96AA8
geneSymbol: JAKMIP2
length: 810
go: ENSG00000176049;
opentargets: Golgi apparatus [GO:0005794]; kinase binding [GO:0019900]; microtubule binding [GO:0008017]
snps: rs3749736 rs761359853
location: SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000269|PubMed:17572408}.
name:
Janus kinase and microtubule-interacting protein 2 (CTCL tumor antigen HD-CL-04) (Neuroendocrine long coiled-coil protein 1)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96AA8-1; Sequence=Displayed; Name=2; IsoId=Q96AA8-2; Sequence=VSP_002430, VSP_028230; Name=3; IsoId=Q96AA8-3; Sequence=VSP_028230; Name=4; IsoId=Q96AA8-4; Sequence=VSP_055264, VSP_028230; Note=No experimental confirmation available.; 


uniprotID: Q5VZ66
geneSymbol: JAKMIP3
name: Janus kinase and microtubule-interacting protein 3 (Neuroendocrine long coiled-coil protein 2)
length: 844
go: ENSG00000188385;
opentargets: Golgi apparatus [GO:0005794]; kinase binding [GO:0019900]; microtubule binding [GO:0008017]
snps: rs11592585
location: SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000250}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5VZ66-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q5VZ66-2; Sequence=VSP_031998, VSP_031999; Note=No experimental confirmation available.; 


uniprotID: Q9UPT6
geneSymbol: MAPK8IP3
pdb: 4PXJ;
length: 1336
go: ENSG00000138834;
snps: rs2294619
name:
C-Jun-amino-terminal kinase-interacting protein 3 (JIP-3) (JNK-interacting protein 3) (JNK MAP kinase scaffold protein 3) (Mitogen-activated protein kinase 8-interacting protein 3)

sequence:

opentargets:
axon [GO:0030424]; axon cytoplasm [GO:1904115]; cell body [GO:0044297]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; dendrite [GO:0030425]; Golgi membrane [GO:0000139]; growth cone [GO:0030426]; perinuclear region of cytoplasm [GO:0048471]; JUN kinase binding [GO:0008432]; kinesin binding [GO:0019894]; MAP-kinase scaffold activity [GO:0005078]; receptor signaling complex scaffold activity [GO:0030159]; activation of JUN kinase activity [GO:0007257]; anterograde axonal protein transport [GO:0099641]; axon development [GO:0061564]; axon regeneration [GO:0031103]; regulation of JNK cascade [GO:0046328]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UPT6-1; Sequence=Displayed; Name=2; IsoId=Q9UPT6-2; Sequence=VSP_024430, VSP_024431; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9ESN9}. Golgi apparatus {ECO:0000250|UniProtKB:Q9ESN9}. Cytoplasmic vesicle {ECO:0000250|UniProtKB:Q9ESN9}. Cell projection, growth cone {ECO:0000250|UniProtKB:Q9ESN9}. Cell projection, axon {ECO:0000250|UniProtKB:E9PSK7}. Cell projection, dendrite {ECO:0000250|UniProtKB:E9PSK7}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:E9PSK7}. Note=Localized in the soma and growth cones of differentiated neurites and the Golgi and vesicles of the early secretory compartment of epithelial cells. KIF5A/B/C-mediated transportation to axon tips is essential for its function in enhancing neuronal axon elongation. {ECO:0000250|UniProtKB:E9PSK7, ECO:0000250|UniProtKB:Q9ESN9}.


uniprotID: P19013
geneSymbol: KRT4
reactome: R-HSA-6805567;R-HSA-6809371;
name: Keratin, type II cytoskeletal 4 (Cytokeratin-4) (CK-4) (Keratin-4) (K4) (Type-II keratin Kb4)
length: 534
sequence:

opentargets:
cell surface [GO:0009986]; cytosol [GO:0005829]; intermediate filament [GO:0005882]; intermediate filament cytoskeleton [GO:0045111]; keratin filament [GO:0045095]; nucleus [GO:0005634]; structural molecule activity [GO:0005198]; cornification [GO:0070268]; cytoskeleton organization [GO:0007010]; epithelial cell differentiation [GO:0030855]; keratinization [GO:0031424]; negative regulation of epithelial cell proliferation [GO:0050680]


uniprotID: P05412
geneSymbol: JUN
pdb: 1A02;1FOS;1JNM;1JUN;1S9K;1T2K;5FV8;5T01;
length: 331
go: ENSG00000177606;
drug: DB01169;DB01029;DB05785;DB00852;DB00570;
snps: rs9989
location: SUBCELLULAR LOCATION: Nucleus.
reactome:
R-HSA-1912408;R-HSA-2559580;R-HSA-2559582;R-HSA-2871796;R-HSA-450341;R-HSA-5617472;R-HSA-5687128;R-HSA-6796648;R-HSA-8862803;R-HSA-8943724;R-HSA-9018519;

name:
Transcription factor AP-1 (Activator protein 1) (AP1) (Proto-oncogene c-Jun) (V-jun avian sarcoma virus 17 oncogene homolog) (p39)

sequence:

opentargets:
cytosol [GO:0005829]; nuclear chromatin [GO:0000790]; nuclear chromosome [GO:0000228]; nuclear euchromatin [GO:0005719]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor AP-1 complex [GO:0035976]; transcription factor complex [GO:0005667]; transcriptional repressor complex [GO:0017053]; cAMP response element binding [GO:0035497]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; 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]; enzyme binding [GO:0019899]; GTPase activator activity [GO:0005096]; HMG box domain binding [GO:0071837]; identical protein binding [GO:0042802]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; R-SMAD binding [GO:0070412]; RNA binding [GO:0003723]; RNA polymerase II activating transcription factor binding [GO:0001102]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription coactivator activity [GO:0003713]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000982]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; ubiquitin protein ligase binding [GO:0031625]; aging [GO:0007568]; angiogenesis [GO:0001525]; axon regeneration [GO:0031103]; cellular response to cadmium ion [GO:0071276]; cellular response to calcium ion [GO:0071277]; cellular response to hormone stimulus [GO:0032870]; cellular response to potassium ion starvation [GO:0051365]; cellular response to reactive oxygen species [GO:0034614]; circadian rhythm [GO:0007623]; eyelid development in camera-type eye [GO:0061029]; Fc-epsilon receptor signaling pathway [GO:0038095]; leading edge cell differentiation [GO:0035026]; learning [GO:0007612]; liver development [GO:0001889]; membrane depolarization [GO:0051899]; microglial cell activation [GO:0001774]; monocyte differentiation [GO:0030224]; negative regulation by host of viral transcription [GO:0043922]; negative regulation of cell proliferation [GO:0008285]; negative regulation of DNA binding [GO:0043392]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of protein autophosphorylation [GO:0031953]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress [GO:1990441]; negative regulation of transcription, DNA-templated [GO:0045892]; outflow tract morphogenesis [GO:0003151]; positive regulation by host of viral transcription [GO:0043923]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cell differentiation [GO:0045597]; positive regulation of DNA replication [GO:0045740]; positive regulation of DNA-templated transcription, initiation [GO:2000144]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of epithelial cell migration [GO:0010634]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of monocyte differentiation [GO:0045657]; positive regulation of neuron apoptotic process [GO:0043525]; positive regulation of pri-miRNA transcription by RNA polymerase II [GO:1902895]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of vascular smooth muscle cell proliferation [GO:1904707]; Ras protein signal transduction [GO:0007265]; regulation of cell cycle [GO:0051726]; regulation of DNA-binding transcription factor activity [GO:0051090]; release of cytochrome c from mitochondria [GO:0001836]; response to cAMP [GO:0051591]; response to cytokine [GO:0034097]; response to drug [GO:0042493]; response to hydrogen peroxide [GO:0042542]; response to lipopolysaccharide [GO:0032496]; response to mechanical stimulus [GO:0009612]; response to muscle stretch [GO:0035994]; response to organic substance [GO:0010033]; response to radiation [GO:0009314]; SMAD protein signal transduction [GO:0060395]; transcription by RNA polymerase II [GO:0006366]; transforming growth factor beta receptor signaling pathway [GO:0007179]


uniprotID: Q14695
geneSymbol: KIAA0087
name: Uncharacterized protein KIAA0087
length: 138
snps: rs740182
sequence:
MEAWESSQPLLRCEIPCPLPGTDRDGSVSLPGEAASCDLDTLEPEHGNRRVSGNPISVCWAYKVTKVKCWSVRERGGRHIGGPRSTLKHPAHHGMGKNLATSLPTAASLGLGKGQLLVSIRFMDTTKKRGQSETFNIC


uniprotID: O15063
geneSymbol: KIAA0355
name: Uncharacterized protein KIAA0355
length: 1070
go: ENSG00000166398;
sequence:


uniprotID: Q6ZU52
geneSymbol: KIAA0408
name: Uncharacterized protein KIAA0408
length: 694
go: ENSG00000189367;
snps: rs3734447 rs2236026
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZU52-1; Sequence=Displayed; Name=2; IsoId=Q6ZU52-2; Sequence=VSP_019942; 


uniprotID: Q05925
geneSymbol: EN1
name: Homeobox protein engrailed-1 (Homeobox protein en-1) (Hu-En-1)
length: 392
go: ENSG00000163064;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
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]; adult locomotory behavior [GO:0008344]; anatomical structure morphogenesis [GO:0009653]; cerebellum development [GO:0021549]; dopaminergic neuron differentiation [GO:0071542]; dorsal/ventral pattern formation [GO:0009953]; drinking behavior [GO:0042756]; embryonic brain development [GO:1990403]; embryonic forelimb morphogenesis [GO:0035115]; midbrain development [GO:0030901]; midbrain-hindbrain boundary development [GO:0030917]; motor learning [GO:0061743]; multicellular organism growth [GO:0035264]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neuron development [GO:0048666]; pigmentation [GO:0043473]; positive regulation of transcription by RNA polymerase II [GO:0045944]; proximal/distal pattern formation [GO:0009954]; skeletal system development [GO:0001501]; social behavior [GO:0035176]


uniprotID: Q9NP08
geneSymbol: HMX1
name: Homeobox protein HMX1 (Homeobox protein H6)
length: 348
go: ENSG00000215612;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; multicellular organism development [GO:0007275]; negative regulation of transcription, DNA-templated [GO:0045892]


uniprotID: Q9UPZ3
geneSymbol: HPS5
length: 1129
go: ENSG00000110756;
snps: rs7128017 rs281865102 rs61884288
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:15030569}.
name:
Hermansky-Pudlak syndrome 5 protein (Alpha-integrin-binding protein 63) (Ruby-eye protein 2 homolog) (Ru2)

sequence:

opentargets:
BLOC-2 complex [GO:0031084]; blood coagulation [GO:0007596]; organelle organization [GO:0006996]; pigmentation [GO:0043473]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UPZ3-1; Sequence=Displayed; Name=2; IsoId=Q9UPZ3-2; Sequence=VSP_007035; 


uniprotID: O95757
geneSymbol: HSPA4L
reactome: R-HSA-3371453;
name: Heat shock 70 kDa protein 4L (Heat shock 70-related protein APG-1) (Osmotic stress protein 94)
length: 839
go: ENSG00000164070;
snps: rs1380154 rs12507229 rs35518193
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; ATP binding [GO:0005524]; protein folding [GO:0006457]; response to unfolded protein [GO:0006986]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}. Note=May translocate to the nucleus after heat shock. {ECO:0000250}.


uniprotID: O14558
geneSymbol: HSPB6
pdb: 4JUS;4JUT;5LTW;5LU1;5LU2;5LUM;5OK9;5OKF;
name: Heat shock protein beta-6 (HspB6) (Heat shock 20 kDa-like protein p20)
length: 160
go: ENSG00000004776;
snps: rs11549029
sequence:
MEIPVPVQPSWLRRASAPLPGLSAPGRLFDQRFGEGLLEAELAALCPTTLAPYYLRAPSVALPVAQVPTDPGHFSVLLDVKHFSPEEIAVKVVGEHVEVHARHEERPDEHGFVAREFHRRYRLPPGVDPAAVTSALSPEGVLSIQAAPASAQAPPPAAAK

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; nucleus [GO:0005634]; chaperone binding [GO:0051087]; protein homodimerization activity [GO:0042803]; structural constituent of eye lens [GO:0005212]; unfolded protein binding [GO:0051082]; chaperone-mediated protein folding [GO:0061077]; negative regulation of cardiac muscle cell apoptotic process [GO:0010667]; positive regulation of angiogenesis [GO:0045766]; regulation of muscle contraction [GO:0006937]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19464326}. Nucleus {ECO:0000269|PubMed:19464326}. Secreted {ECO:0000269|PubMed:22427880}. Note=Translocates to nuclear foci during heat shock. {ECO:0000269|PubMed:19464326}.


uniprotID: O60921
geneSymbol: HUS1
reactome: R-HSA-176187;R-HSA-5685938;R-HSA-5693607;R-HSA-5693616;R-HSA-6804756;R-HSA-69473;
pdb: 3A1J;3G65;3GGR;
name: Checkpoint protein HUS1 (hHUS1)
length: 280
go: ENSG00000136273;
snps: rs2307261 rs2307254 rs3176588
sequence:

opentargets:
checkpoint clamp complex [GO:0030896]; cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; site of double-strand break [GO:0035861]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to ionizing radiation [GO:0071479]; DNA damage checkpoint [GO:0000077]; DNA repair [GO:0006281]; double-strand break repair via homologous recombination [GO:0000724]; embryo development ending in birth or egg hatching [GO:0009792]; intra-S DNA damage checkpoint [GO:0031573]; meiotic DNA integrity checkpoint [GO:0044778]; mitotic DNA replication checkpoint [GO:0033314]; negative regulation of DNA replication [GO:0008156]; nucleotide-excision repair [GO:0006289]; protein phosphorylation [GO:0006468]; regulation of protein phosphorylation [GO:0001932]; response to UV [GO:0009411]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60921-1; Sequence=Displayed; Name=2; IsoId=O60921-2; Sequence=VSP_056702; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10846170, ECO:0000269|PubMed:11077446}. Cytoplasm, cytosol {ECO:0000269|PubMed:11077446}. Note=In discrete nuclear foci upon DNA damage. According to PubMed:11077446, localized also in the cytoplasm. DNA damage induces its nuclear translocation. Shuttles between the nucleus and the cytoplasm. {ECO:0000269|PubMed:11077446}.


uniprotID: A4D126
geneSymbol: ISPD
pdb: 4CVH;
length: 451
go: ENSG00000214960;
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:26687144}.
name:
D-ribitol-5-phosphate cytidylyltransferase (EC 2.7.7.40) (2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein) (Isoprenoid synthase domain-containing protein) (hISPD)

sequence:

opentargets:
cytosol [GO:0005829]; cytidylyltransferase activity [GO:0070567]; D-ribitol-5-phosphate cytidylyltransferase activity [GO:0047349]; protein homodimerization activity [GO:0042803]; axon guidance [GO:0007411]; isoprenoid biosynthetic process [GO:0008299]; protein O-linked mannosylation [GO:0035269]

snps:
rs587777797 rs387907162 rs752817129 rs369219851 rs397514547 rs566179705 rs397515408 rs387907160 rs397515409 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A4D126-1; Sequence=Displayed; Name=2; IsoId=A4D126-2; Sequence=VSP_044044; Note=No experimental confirmation available.; 


uniprotID: O95235
geneSymbol: KIF20A
reactome: R-HSA-2132295;R-HSA-6811434;R-HSA-68884;R-HSA-983189;
length: 890
go: ENSG00000112984;
snps: rs3734116 rs3172747
name:
Kinesin-like protein KIF20A (GG10_2) (Mitotic kinesin-like protein 2) (MKlp2) (Rab6-interacting kinesin-like protein) (Rabkinesin-6)

sequence:

opentargets:
cleavage furrow [GO:0032154]; Golgi apparatus [GO:0005794]; intercellular bridge [GO:0045171]; kinesin complex [GO:0005871]; microtubule [GO:0005874]; midbody [GO:0030496]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spindle [GO:0005819]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; protein kinase binding [GO:0019901]; transporter activity [GO:0005215]; microtubule bundle formation [GO:0001578]; microtubule-based movement [GO:0007018]; midbody abscission [GO:0061952]; mitotic cytokinesis [GO:0000281]; protein transport [GO:0015031]; regulation of cytokinesis [GO:0032465]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95235-1; Sequence=Displayed; Name=2; IsoId=O95235-2; Sequence=VSP_056007; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000250}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:12939256}.


uniprotID: Q6NV74
geneSymbol: KIAA1211L
name: Uncharacterized protein KIAA1211-like
length: 962
go: ENSG00000196872;
snps: rs3731660
sequence:


uniprotID: Q9BQS6
geneSymbol: HSPB9
name: Heat shock protein beta-9 (HspB9) (Cancer/testis antigen 51) (CT51)
length: 159
go: ENSG00000260325;
opentargets: cytoplasm [GO:0005737]; nucleus [GO:0005634]
snps: rs1122326
sequence:
MQRVGNTFSNESRVASRCPSVGLAERNRVATMPVRLLRDSPAAQEDNDHARDGFQMKLDAHGFAPEELVVQVDGQWLMVTGQQQLDVRDPERVSYRMSQKVHRKMLPSNLSPTAMTCCLTPSGQLWVRGQCVALALPEAQTGPSPRLGSLGSKASNLTR

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19464326}. Nucleus {ECO:0000269|PubMed:19464326}. Note=Translocates to nuclear foci during heat shock.


uniprotID: Q99706
geneSymbol: KIR2DL4
reactome: R-HSA-198933;
pdb: 3WYR;
length: 377
go: ENSG00000189013;
snps: rs618835 rs1051454 rs1051456
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
name:
Killer cell immunoglobulin-like receptor 2DL4 (CD158 antigen-like family member D) (G9P) (Killer cell inhibitory receptor 103AS) (KIR-103AS) (MHC class I NK cell receptor KIR103AS) (CD antigen CD158d)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; transmembrane signaling receptor activity [GO:0004888]; cellular defense response [GO:0006968]; regulation of immune response [GO:0050776]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q99706-1; Sequence=Displayed; Name=2; Synonyms=AST; IsoId=Q99706-2; Sequence=VSP_002609; Name=3; Synonyms=AS; IsoId=Q99706-3; Sequence=VSP_002610; Name=4; Synonyms=ASD1; IsoId=Q99706-4; Sequence=VSP_002609, VSP_002610; Name=5; Synonyms=ASD2; IsoId=Q99706-5; Sequence=VSP_002609, VSP_002610, VSP_002611; Name=6; IsoId=Q99706-6; Sequence=VSP_002608, VSP_002609, VSP_002610; 


uniprotID: Q14952
geneSymbol: KIR2DS3
length: 304
opentargets: integral component of plasma membrane [GO:0005887]; cellular defense response [GO:0006968]
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
name:
Killer cell immunoglobulin-like receptor 2DS3 (MHC class I NK cell receptor) (Natural killer-associated transcript 7) (NKAT-7)

sequence:


uniprotID: O00139
geneSymbol: KIF2A
pdb: 2GRY;6BBN;
name: Kinesin-like protein KIF2A (Kinesin-2) (hK2)
length: 706
go: ENSG00000068796;
snps: rs587777034 rs587777033
sequence:

opentargets:
centriolar subdistal appendage [GO:0120103]; centriole [GO:0005814]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; kinesin complex [GO:0005871]; membrane [GO:0016020]; microtubule [GO:0005874]; nuclear body [GO:0016604]; nucleolus [GO:0005730]; nucleus [GO:0005634]; sperm principal piece [GO:0097228]; spindle pole [GO:0000922]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; motor activity [GO:0003774]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; cell differentiation [GO:0030154]; cell division [GO:0051301]; microtubule cytoskeleton organization [GO:0000226]; microtubule depolymerization [GO:0007019]; microtubule-based movement [GO:0007018]; mitotic spindle assembly [GO:0090307]; mitotic spindle organization [GO:0007052]; nervous system development [GO:0007399]; regulation of cell migration [GO:0030334]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=3; IsoId=O00139-3; Sequence=Displayed; Name=1; Synonyms=HK2; IsoId=O00139-1; Sequence=VSP_028374; Name=2; Synonyms=HK2s; IsoId=O00139-2; Sequence=VSP_028374, VSP_028375; Name=4; IsoId=O00139-4; Sequence=VSP_028376; Note=No experimental confirmation available. {ECO:0000250|UniProtKB:P28740}; Name=5; IsoId=O00139-5; Sequence=VSP_047373; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle pole. Cytoplasm, cytoskeleton, spindle. Note=Localized to the spindle microtubules and spindle poles from prophase to metaphase. Efficient targeting to spindle microtubules and spindle poles requires the kinase activity of PLK1. Recruited to mitotic spindles by interaction with PSRC1.


uniprotID: P15884
geneSymbol: TCF4
reactome: R-HSA-375170;
pdb: 2KWF;
length: 667
go: ENSG00000196628;
snps: rs11660217 rs1057521070 rs121909123 rs121909123 rs121909121 rs121909120
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981, ECO:0000269|PubMed:22777675}.
name:
Transcription factor 4 (TCF-4) (Class B basic helix-loop-helix protein 19) (bHLHb19) (Immunoglobulin transcription factor 2) (ITF-2) (SL3-3 enhancer factor 2) (SEF-2)

sequence:

opentargets:
beta-catenin-TCF complex [GO:1990907]; beta-catenin-TCF7L2 complex [GO:0070369]; nuclear chromatin [GO:0000790]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; bHLH transcription factor binding [GO:0043425]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; E-box binding [GO:0070888]; identical protein binding [GO:0042802]; protein C-terminus binding [GO:0008022]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; TFIIB-class transcription factor binding [GO:0001093]; transcription factor activity, sequence-specific DNA binding, RNA polymerase recruiting [GO:0001011]; DNA-templated transcription, initiation [GO:0006352]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; protein-DNA complex assembly [GO:0065004]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=16;  Comment=Additional isoforms seem to exist.; Name=SEF2-1B; Synonyms=B-; IsoId=P15884-1; Sequence=Displayed; Name=SEF2-1A; Synonyms=A+; IsoId=P15884-2; Sequence=VSP_030819, VSP_002111, VSP_002112; Name=SEF2-1D; Synonyms=B+; IsoId=P15884-3; Sequence=VSP_002112; Name=B+delta; IsoId=P15884-4; Sequence=VSP_044340, VSP_002112; Name=B-delta; IsoId=P15884-5; Sequence=VSP_044340; Name=A-; IsoId=P15884-6; Sequence=VSP_044336, VSP_044337, VSP_044340; Name=G-; IsoId=P15884-7; Sequence=VSP_044334, VSP_044338, VSP_044339; Name=H-; IsoId=P15884-8; Sequence=VSP_044335, VSP_057364; Name=D-; IsoId=P15884-9; Sequence=VSP_045149; Name=F-; IsoId=P15884-10; Sequence=VSP_045151; Name=11; IsoId=P15884-11; Sequence=VSP_045150, VSP_044339, VSP_002112; Name=E-; IsoId=P15884-12; Sequence=VSP_047082, VSP_047083; Name=13; IsoId=P15884-13; Sequence=VSP_047081, VSP_002112; Name=C-; IsoId=P15884-14; Sequence=VSP_047081; Name=C-delta; IsoId=P15884-15; Sequence=VSP_047081, VSP_044340; Name=I-; IsoId=P15884-16; Sequence=VSP_054279; 


uniprotID: P53990
geneSymbol: IST1
reactome: R-HSA-6798695;
pdb: 3FRR;3FRS;3JC1;4U7E;4U7I;4U7Y;4WZX;6E8G;
name: IST1 homolog (hIST1) (Putative MAPK-activating protein PM28)
length: 364
go: ENSG00000182149;
sequence:

opentargets:
azurophil granule lumen [GO:0035578]; centrosome [GO:0005813]; cytosol [GO:0005829]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; Flemming body [GO:0090543]; intracellular membrane-bounded organelle [GO:0043231]; midbody [GO:0030496]; nuclear envelope [GO:0005635]; cadherin binding [GO:0045296]; identical protein binding [GO:0042802]; MIT domain binding [GO:0090541]; protein domain specific binding [GO:0019904]; protein-containing complex binding [GO:0044877]; abscission [GO:0009838]; cell division [GO:0051301]; cytoskeleton-dependent cytokinesis [GO:0061640]; ESCRT III complex disassembly [GO:1904903]; establishment of protein localization [GO:0045184]; multivesicular body assembly [GO:0036258]; neutrophil degranulation [GO:0043312]; positive regulation of collateral sprouting [GO:0048672]; positive regulation of proteolysis [GO:0045862]; protein localization [GO:0008104]; protein transport [GO:0015031]; viral capsid secondary envelopment [GO:0046745]; viral release from host cell [GO:0019076]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=P53990-1; Sequence=Displayed; Name=2; IsoId=P53990-2; Sequence=VSP_017118, VSP_017119; Note=No experimental confirmation available.; Name=5; IsoId=P53990-5; Sequence=VSP_047075, VSP_047076; Name=4; IsoId=P53990-4; Sequence=VSP_017118; Name=3; IsoId=P53990-3; Sequence=VSP_017118, VSP_017120; Note=No experimental confirmation available.; Name=6; IsoId=P53990-6; Sequence=VSP_055118, VSP_017118; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle {ECO:0000269|PubMed:19129479, ECO:0000269|PubMed:19129480}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:20719964}. Midbody {ECO:0000269|PubMed:20719964}. Nucleus envelope {ECO:0000269|PubMed:26040712}. Note=Localizes to centrosome and midbody of dividing cells (PubMed:19129480, PubMed:19129479, PubMed:20719964). Colocalized with SPART to the ends of Flemming bodies during cytokinesis (PubMed:20719964). Localizes to the nuclear envelope during late anaphase (PubMed:26040712). {ECO:0000269|PubMed:19129479, ECO:0000269|PubMed:19129480, ECO:0000269|PubMed:20719964, ECO:0000269|PubMed:26040712}.


uniprotID: Q08881
geneSymbol: ITK
reactome: R-HSA-202433;R-HSA-2871809;
length: 620
go: ENSG00000113263;
drug: DB06589;DB02010;
snps: rs17054374 rs121908191 rs779372373 rs34482255 rs56005928
pdb:
1SM2;1SNU;1SNX;2E6I;2LMJ;2YUQ;3MIY;3MJ1;3MJ2;3QGW;3QGY;3T9T;3V5J;3V5L;3V8T;3V8W;4HCT;4HCU;4HCV;4KIO;4L7S;4M0Y;4M0Z;4M12;4M13;4M14;4M15;4MF0;4MF1;4PP9;4PPA;4PPB;4PPC;4PQN;4QD6;4RFM;

name:
Tyrosine-protein kinase ITK/TSK (EC 2.7.10.2) (Interleukin-2-inducible T-cell kinase) (IL-2-inducible T-cell kinase) (Kinase EMT) (T-cell-specific kinase) (Tyrosine-protein kinase Lyk)

sequence:

opentargets:
cell-cell junction [GO:0005911]; cytosol [GO:0005829]; nucleus [GO:0005634]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; activation of phospholipase C activity [GO:0007202]; adaptive immune response [GO:0002250]; B cell receptor signaling pathway [GO:0050853]; cellular defense response [GO:0006968]; cytokine production [GO:0001816]; Fc-epsilon receptor signaling pathway [GO:0038095]; interferon-gamma production [GO:0032609]; interleukin-4 production [GO:0032633]; intracellular signal transduction [GO:0035556]; NK T cell differentiation [GO:0001865]; peptidyl-tyrosine autophosphorylation [GO:0038083]; signal transduction [GO:0007165]; T cell activation [GO:0042110]; T cell receptor signaling pathway [GO:0050852]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17060314}. Nucleus {ECO:0000250|UniProtKB:Q03526}. Note=Localizes in the vicinity of cell surface receptors in the plasma membrane after receptor stimulation.


uniprotID: P18564
geneSymbol: ITGB6
reactome: R-HSA-1566948;R-HSA-2129379;R-HSA-216083;R-HSA-3000178;
pdb: 1LH9;4UM8;4UM9;5FFG;5FFO;5NEM;5NER;5NET;5NEU;
name: Integrin beta-6
length: 788
go: ENSG00000115221;
snps: rs140015315 rs730880298 rs730882118 rs2305820
sequence:

opentargets:
cell junction [GO:0030054]; cell surface [GO:0009986]; centrosome [GO:0005813]; external side of plasma membrane [GO:0009897]; focal adhesion [GO:0005925]; integrin alphav-beta6 complex [GO:0034685]; integrin complex [GO:0008305]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; integrin binding [GO:0005178]; signaling receptor activity [GO:0038023]; virus receptor activity [GO:0001618]; cell adhesion [GO:0007155]; cell adhesion mediated by integrin [GO:0033627]; cell migration [GO:0016477]; cell-matrix adhesion [GO:0007160]; extracellular matrix organization [GO:0030198]; inflammatory response [GO:0006954]; integrin-mediated signaling pathway [GO:0007229]; regulation of transforming growth factor beta activation [GO:1901388]; transforming growth factor-beta secretion [GO:0038044]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P18564-1; Sequence=Displayed; Name=2; IsoId=P18564-2; Sequence=VSP_055189; Note=No experimental confirmation available. Gene prediction confirmed by EST data.; 

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


uniprotID: Q13349
geneSymbol: ITGAD
reactome: R-HSA-216083;
length: 1161
go: ENSG00000156886;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Integrin alpha-D (ADB2) (CD11 antigen-like family member D) (Leukointegrin alpha D) (CD antigen CD11d)

sequence:

opentargets:
cell surface [GO:0009986]; integrin complex [GO:0008305]; plasma membrane [GO:0005886]; metal ion binding [GO:0046872]; extracellular matrix organization [GO:0030198]; heterotypic cell-cell adhesion [GO:0034113]; immune response [GO:0006955]; integrin-mediated signaling pathway [GO:0007229]


uniprotID: O14713
geneSymbol: ITGB1BP1
pdb: 1K11;4DX8;4DX9;4JIF;
name: Integrin beta-1-binding protein 1 (Integrin cytoplasmic domain-associated protein 1) (ICAP-1)
length: 200
go: ENSG00000119185;
sequence:

opentargets:
cell periphery [GO:0071944]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; lamellipodium [GO:0030027]; membrane [GO:0016020]; microtubule organizing center [GO:0005815]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; ruffle [GO:0001726]; GDP-dissociation inhibitor activity [GO:0005092]; integrin binding [GO:0005178]; protein kinase binding [GO:0019901]; protein transporter activity [GO:0008565]; protein-containing complex binding [GO:0044877]; activation of protein kinase B activity [GO:0032148]; biomineral tissue development [GO:0031214]; blood vessel endothelial cell proliferation involved in sprouting angiogenesis [GO:0002043]; cell differentiation [GO:0030154]; cell migration [GO:0016477]; cell-matrix adhesion [GO:0007160]; cellular response to fibroblast growth factor stimulus [GO:0044344]; cellular response to vascular endothelial growth factor stimulus [GO:0035924]; integrin activation [GO:0033622]; integrin-mediated signaling pathway [GO:0007229]; intracellular signal transduction [GO:0035556]; myoblast migration [GO:0051451]; negative regulation of cell adhesion involved in substrate-bound cell migration [GO:0006933]; negative regulation of cell migration involved in sprouting angiogenesis [GO:0090051]; negative regulation of cell proliferation [GO:0008285]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of fibroblast migration [GO:0010764]; negative regulation of focal adhesion assembly [GO:0051895]; negative regulation of protein binding [GO:0032091]; negative regulation of protein kinase activity [GO:0006469]; negative regulation of protein targeting to membrane [GO:0090315]; negative regulation of substrate adhesion-dependent cell spreading [GO:1900025]; Notch signaling pathway [GO:0007219]; positive regulation of cell division [GO:0051781]; positive regulation of cell proliferation [GO:0008284]; positive regulation of endothelial cell migration [GO:0010595]; positive regulation of focal adhesion assembly [GO:0051894]; positive regulation of Notch signaling pathway [GO:0045747]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of protein targeting to membrane [GO:0090314]; positive regulation of stress fiber assembly [GO:0051496]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein transport [GO:0015031]; receptor clustering [GO:0043113]; regulation of blood vessel size [GO:0050880]; regulation of cell adhesion mediated by integrin [GO:0033628]; regulation of GTPase activity [GO:0043087]; regulation of integrin-mediated signaling pathway [GO:2001044]; tube formation [GO:0035148]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=ICAP1-alpha; IsoId=O14713-1; Sequence=Displayed; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=2; Synonyms=ICAP1-beta; IsoId=O14713-2; Sequence=VSP_003898; 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: Nucleus. Cytoplasm. Cytoplasm, cytoskeleton {ECO:0000250}. Cell membrane {ECO:0000250}. Cell projection, lamellipodium. Cell projection, ruffle. Note=Nucleocytoplasmic shuttling protein; shuttles between nucleus and cytoplasm in a integrin-dependent manner; probably sequestered in the cytosol by ITGB1. Its localization is dependent on the stage of cell spreading on fibronectin; cytoplasmic in case of round cells, corresponding to the initial step of cell spreading, or nuclear in case of well spread cells. Colocalizes with ROCK1 and NME2 at beta-1 integrin engagement sites. Together with ITGB1 and NME2 is recruited to beta-1 integrin-rich peripheral ruffles and lamellipodia during initial cell spreading on fibronectin and/or collagen.


uniprotID: Q9Y219
geneSymbol: JAG2
reactome: R-HSA-2122948;R-HSA-2644606;R-HSA-2660826;R-HSA-2691232;R-HSA-2894862;R-HSA-2979096;R-HSA-9013507;
pdb: 5MW5;5MW7;5MWF;
name: Protein jagged-2 (Jagged2) (hJ2)
length: 1238
go: ENSG00000184916;
snps: rs1057744 rs9972231
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; growth factor activity [GO:0008083]; Notch binding [GO:0005112]; auditory receptor cell fate commitment [GO:0009912]; cell differentiation [GO:0030154]; epithelial cell apoptotic process involved in palatal shelf morphogenesis [GO:1990134]; gamma-delta T cell differentiation [GO:0042492]; in utero embryonic development [GO:0001701]; morphogenesis of embryonic epithelium [GO:0016331]; Notch signaling pathway [GO:0007219]; odontogenesis of dentin-containing tooth [GO:0042475]; positive regulation of Notch signaling pathway [GO:0045747]; regulation of cell adhesion [GO:0030155]; regulation of cell proliferation [GO:0042127]; respiratory system process [GO:0003016]; skeletal system development [GO:0001501]; spermatogenesis [GO:0007283]; T cell differentiation [GO:0030217]; thymic T cell selection [GO:0045061]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=Q9Y219-1; Sequence=Displayed; Name=Short; Synonyms=HJAG2.del-E6; IsoId=Q9Y219-2; Sequence=VSP_001395; 


uniprotID: Q9P266
geneSymbol: JCAD
name: Junctional protein associated with coronary artery disease (JCAD)
length: 1359
go: ENSG00000165757;
snps: rs7917573 rs7917566 rs7901855 rs2185724 rs3739998 rs12240677
sequence:

opentargets:
adherens junction [GO:0005912]; cell-cell junction [GO:0005911]; perinuclear region of cytoplasm [GO:0048471]; ruffle membrane [GO:0032587]; cell adhesion [GO:0007155]; 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 MAPK cascade [GO:0043410]; positive regulation of vascular endothelial growth factor signaling pathway [GO:1900748]

location:
SUBCELLULAR LOCATION: Cell junction, adherens junction {ECO:0000250}. Note=Colocalizes with VE-Cadherin, in endothelial cells but not in epithelial cells. {ECO:0000250}.


uniprotID: Q86YT9
geneSymbol: JAML
reactome: R-HSA-198933;R-HSA-202733;
length: 394
go: ENSG00000160593;
snps: rs17121881 rs1793174 rs2298831
name:
Junctional adhesion molecule-like (Adhesion molecule interacting with CXADR antigen 1) (Dendritic cell-specific protein CREA7-1)

sequence:

opentargets:
bicellular tight junction [GO:0005923]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; cell adhesion molecule binding [GO:0050839]; integrin binding [GO:0005178]; protein homodimerization activity [GO:0042803]; gamma-delta T cell activation [GO:0046629]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; leukocyte migration [GO:0050900]; monocyte extravasation [GO:0035696]; neutrophil chemotaxis [GO:0030593]; neutrophil extravasation [GO:0072672]; positive regulation of epithelial cell proliferation involved in wound healing [GO:0060054]; regulation of immune response [GO:0050776]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q86YT9-1; Sequence=Displayed; Name=2; IsoId=Q86YT9-2; Sequence=VSP_014830; Note=No experimental confirmation available.; Name=3; IsoId=Q86YT9-3; Sequence=VSP_014831, VSP_014832; Note=No experimental confirmation available.; Name=4; IsoId=Q86YT9-4; Sequence=VSP_054911; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12869515}; Single-pass type I membrane protein {ECO:0000269|PubMed:12869515}. Cell junction {ECO:0000269|PubMed:12869515}. Note=Localized at the plasma membrane and enriched in areas of cell-cell contacts (PubMed:12869515).


uniprotID: Q92833
geneSymbol: JARID2
reactome: R-HSA-212300;
pdb: 5HYN;5LS6;6C23;6C24;
name: Protein Jumonji (Jumonji/ARID domain-containing protein 2)
length: 1246
go: ENSG00000008083;
sequence:

opentargets:
ESC/E(Z) complex [GO:0035098]; histone methyltransferase complex [GO:0035097]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; methylated histone binding [GO:0035064]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription factor binding [GO:0008134]; cellular response to leukemia inhibitory factor [GO:1990830]; central nervous system development [GO:0007417]; histone demethylation [GO:0016577]; liver development [GO:0001889]; negative regulation of cardiac muscle cell proliferation [GO:0060044]; negative regulation of cardiac muscle hypertrophy [GO:0010614]; negative regulation of gene expression, epigenetic [GO:0045814]; negative regulation of histone methylation [GO:0031061]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of histone H3-K9 methylation [GO:0051574]; spleen development [GO:0048536]; stem cell differentiation [GO:0048863]; thymus development [GO:0048538]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q92833-1; Sequence=Displayed; Name=2; IsoId=Q92833-2; Sequence=VSP_038756, VSP_038757; Note=No experimental confirmation available.; Name=3; IsoId=Q92833-3; Sequence=VSP_045041; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00355, ECO:0000255|PROSITE-ProRule:PRU00537, ECO:0000269|PubMed:20075857}. Note=Colocalizes with the PRC2 complex on chromatin.


uniprotID: P17535
geneSymbol: JUND
reactome: R-HSA-9018519;
pdb: 3U86;5VPA;5VPB;5VPC;5VPD;5VPE;5VPF;
name: Transcription factor jun-D
length: 347
go: ENSG00000130522;
snps: rs41478151
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
chromatin [GO:0000785]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-DNA complex [GO:0032993]; transcription factor AP-1 complex [GO:0035976]; transcription factor complex [GO:0005667]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; enzyme binding [GO:0019899]; nuclear receptor binding [GO:0016922]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription coactivator activity [GO:0003713]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; aging [GO:0007568]; cellular response to calcium ion [GO:0071277]; cellular response to hormone stimulus [GO:0032870]; circadian rhythm [GO:0007623]; negative regulation of transcription by RNA polymerase II [GO:0000122]; osteoblast development [GO:0002076]; positive regulation of cell differentiation [GO:0045597]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of cell cycle [GO:0051726]; regulation of transcription by RNA polymerase II [GO:0006357]; response to cAMP [GO:0051591]; response to cytokine [GO:0034097]; response to drug [GO:0042493]; response to light stimulus [GO:0009416]; response to lipopolysaccharide [GO:0032496]; response to mechanical stimulus [GO:0009612]; response to organic substance [GO:0010033]; response to peptide hormone [GO:0043434]; response to radiation [GO:0009314]; transcription by RNA polymerase II [GO:0006366]


uniprotID: Q15652
geneSymbol: JMJD1C
reactome: R-HSA-983231;
pdb: 2YPD;5FZO;
length: 2540
go: ENSG00000171988;
snps: rs34798625 rs35380596 rs10761725 rs41274072 rs9703886 rs34491125 rs1935
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
Probable JmjC domain-containing histone demethylation protein 2C (EC 1.14.11.-) (Jumonji domain-containing protein 1C) (Thyroid receptor-interacting protein 8) (TR-interacting protein 8) (TRIP-8)

sequence:

opentargets:
chromatin [GO:0000785]; intracellular [GO:0005622]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin DNA binding [GO:0031490]; dioxygenase activity [GO:0051213]; histone demethylase activity (H3-K9 specific) [GO:0032454]; metal ion binding [GO:0046872]; thyroid hormone receptor binding [GO:0046966]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; blood coagulation [GO:0007596]; histone H3-K9 demethylation [GO:0033169]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q15652-1; Sequence=Displayed; Name=2; IsoId=Q15652-2; Sequence=VSP_018303, VSP_018304, VSP_018305; Note=No experimental confirmation available.; Name=3; Synonyms=s-JMJD1C; IsoId=Q15652-3; Sequence=VSP_043909; Note=May function as a tumor suppressor, reduced expression in breast cancer tumors.; 


uniprotID: Q9H9V9
geneSymbol: JMJD4
name: JmjC domain-containing protein 4 (Jumonji domain-containing protein 4)
length: 463
go: ENSG00000081692;
snps: rs7419238 rs34560898 rs2295994 rs3087908
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H9V9-1; Sequence=Displayed; Name=2; IsoId=Q9H9V9-2; Sequence=VSP_026324; 


uniprotID: Q6ZU35
geneSymbol: KIAA1211
name: Uncharacterized protein KIAA1211
length: 1233
go: ENSG00000109265;
snps: rs1379374919 rs6823339 rs7672073 rs3796546 rs3796547
sequence:


uniprotID: Q9UJY1
geneSymbol: HSPB8
reactome: R-HSA-3371571;
length: 196
go: ENSG00000152137;
snps: rs55826713 rs104894351 rs104894345
name:
Heat shock protein beta-8 (HspB8) (Alpha-crystallin C chain) (E2-induced gene 1 protein) (Protein kinase H11) (Small stress protein-like protein HSP22)

sequence:
MADGQMPFSCHYPSRLRRDPFRDSPLSSRLLDDGFGMDPFPDDLTASWPDWALPRLSSAWPGTLRSGMVPRGPTATARFGVPAEGRTPPPFPGEPWKVCVNVHSFKPEELMVKTKDGYVEVSGKHEEKQQEGGIVSKNFTKKIQLPAEVDPVTVFASLSPEGLLIIEAPQVPPYSTFGESSFNNELPQDSQEVTCT

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular [GO:0005622]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; identical protein binding [GO:0042802]; protein phosphorylation [GO:0006468]; regulation of cellular response to heat [GO:1900034]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19464326, ECO:0000269|PubMed:28144995}. Nucleus {ECO:0000269|PubMed:19464326}. Note=Translocates to nuclear foci during heat shock.


uniprotID: Q8NHK3
geneSymbol: KIR2DL5B
length: 375
opentargets: integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
name:
Killer cell immunoglobulin-like receptor 2DL5B (CD158 antigen-like family member F2) (Killer cell immunoglobulin-like receptor 2DLX) (CD antigen CD158f2)

sequence:


uniprotID: P43629
geneSymbol: KIR3DL1
reactome: R-HSA-198933;
pdb: 3VH8;3WUW;5B38;5B39;5T6Z;5T70;
length: 444
go: ENSG00000167633;
snps: rs605219 rs1142881 rs1142882 rs643347 rs1049150 rs2273731 rs680891 rs1049215 rs1130468 rs1130513
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
name:
Killer cell immunoglobulin-like receptor 3DL1 (CD158 antigen-like family member E) (HLA-BW4-specific inhibitory NK cell receptor) (MHC class I NK cell receptor) (Natural killer-associated transcript 3) (NKAT-3) (p70 natural killer cell receptor clones CL-2/CL-11) (p70 NK receptor CL-2/CL-11) (CD antigen CD158e)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; HLA-B specific inhibitory MHC class I receptor activity [GO:0030109]; immune response [GO:0006955]; natural killer cell mediated cytotoxicity [GO:0042267]; regulation of immune response [GO:0050776]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P43629-1; Sequence=Displayed; Name=2; IsoId=P43629-2; Sequence=VSP_047633; 


uniprotID: Q8IX03
geneSymbol: WWC1
reactome: R-HSA-2028269;R-HSA-9013508;
pdb: 2Z0U;6FB4;6FD0;6FJC;6FJD;
length: 1113
go: ENSG00000113645;
snps: rs17551608 rs3822660 rs3822659
name:
Protein KIBRA (HBeAg-binding protein 3) (Kidney and brain protein) (KIBRA) (WW domain-containing protein 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; protein-containing complex [GO:0032991]; ruffle membrane [GO:0032587]; kinase binding [GO:0019900]; protein-containing complex scaffold activity [GO:0032947]; transcription coactivator activity [GO:0003713]; cell migration [GO:0016477]; establishment of cell polarity [GO:0030010]; hippo signaling [GO:0035329]; negative regulation of hippo signaling [GO:0035331]; negative regulation of organ growth [GO:0046621]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of transcription of Notch receptor target [GO:0007221]; regulation of hippo signaling [GO:0035330]; regulation of intracellular transport [GO:0032386]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IX03-1; Sequence=Displayed; Name=2; IsoId=Q8IX03-2; Sequence=VSP_019448; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, perinuclear region. Nucleus. Cell projection, ruffle membrane. Note=Colocalizes with PRKCZ in the perinuclear region.


uniprotID: Q96FN5
geneSymbol: KIF12
reactome: R-HSA-6811434;R-HSA-983189;
name: Kinesin-like protein KIF12
length: 646
go: ENSG00000136883;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; kinesin complex [GO:0005871]; microtubule [GO:0005874]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; microtubule-based movement [GO:0007018]


uniprotID: P56199
geneSymbol: ITGA1
reactome: R-HSA-216083;R-HSA-3000157;R-HSA-416700;R-HSA-445355;R-HSA-447041;R-HSA-75892;
pdb: 1PT6;1QC5;1QCY;2L8S;2M32;4A0Q;5HGJ;
length: 1179
go: ENSG00000213949;
snps: rs4145748 rs2279587 rs12520591 rs988574
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Integrin alpha-1 (CD49 antigen-like family member A) (Laminin and collagen receptor) (VLA-1) (CD antigen CD49a)

sequence:

opentargets:
acrosomal vesicle [GO:0001669]; basal part of cell [GO:0045178]; cell surface [GO:0009986]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; integrin alpha1-beta1 complex [GO:0034665]; integrin complex [GO:0008305]; membrane [GO:0016020]; membrane raft [GO:0045121]; neuron projection [GO:0043005]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; collagen binding [GO:0005518]; collagen binding involved in cell-matrix adhesion [GO:0098639]; metal ion binding [GO:0046872]; protein phosphatase binding [GO:0019903]; signaling receptor binding [GO:0005102]; activation of MAPK activity [GO:0000187]; cell-matrix adhesion [GO:0007160]; cellular extravasation [GO:0045123]; extracellular matrix organization [GO:0030198]; integrin-mediated signaling pathway [GO:0007229]; muscle contraction [GO:0006936]; negative regulation of cell proliferation [GO:0008285]; negative regulation of epidermal growth factor receptor signaling pathway [GO:0042059]; neuron projection morphogenesis [GO:0048812]; neutrophil chemotaxis [GO:0030593]; positive regulation of neuron apoptotic process [GO:0043525]; positive regulation of phosphoprotein phosphatase activity [GO:0032516]; vasodilation [GO:0042311]


uniprotID: Q96J02
geneSymbol: ITCH
pdb: 2DMV;2KYK;2NQ3;2P4R;2YSF;3TUG;4ROF;5C7M;5CQ2;5DWS;5DZD;5SXP;
length: 903
go: ENSG00000078747;
reactome:
R-HSA-1253288;R-HSA-168638;R-HSA-2122948;R-HSA-5610780;R-HSA-5632684;R-HSA-8939236;R-HSA-936440;R-HSA-983168;

name:
E3 ubiquitin-protein ligase Itchy homolog (Itch) (EC 2.3.2.26) (Atrophin-1-interacting protein 4) (AIP4) (HECT-type E3 ubiquitin transferase Itchy homolog) (NFE2-associated polypeptide 1) (NAPP1)

sequence:

opentargets:
cell cortex [GO:0005938]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; early endosome membrane [GO:0031901]; extracellular exosome [GO:0070062]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; arrestin family protein binding [GO:1990763]; CXCR chemokine receptor binding [GO:0045236]; ligase activity [GO:0016874]; ribonucleoprotein complex binding [GO:0043021]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-like protein ligase binding [GO:0044389]; ubiquitin-like protein transferase activity [GO:0019787]; ubiquitin-protein transferase activity [GO:0004842]; apoptotic process [GO:0006915]; defense response to virus [GO:0051607]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; negative regulation of alpha-beta T cell proliferation [GO:0046642]; negative regulation of apoptotic process [GO:0043066]; negative regulation of defense response to virus [GO:0050687]; negative regulation of JNK cascade [GO:0046329]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of type I interferon production [GO:0032480]; Notch signaling pathway [GO:0007219]; nucleotide-binding oligomerization domain containing signaling pathway [GO:0070423]; positive regulation of protein catabolic process [GO:0045732]; positive regulation of receptor catabolic process [GO:2000646]; positive regulation of T cell anergy [GO:0002669]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein autoubiquitination [GO:0051865]; protein K29-linked ubiquitination [GO:0035519]; protein K48-linked ubiquitination [GO:0070936]; protein K63-linked ubiquitination [GO:0070534]; protein polyubiquitination [GO:0000209]; protein ubiquitination [GO:0016567]; regulation of cell growth [GO:0001558]; regulation of hematopoietic stem cell differentiation [GO:1902036]; regulation of protein deubiquitination [GO:0090085]; ubiquitin-dependent protein catabolic process [GO:0006511]; viral entry into host cell [GO:0046718]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96J02-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q96J02-2; Sequence=VSP_008451; Name=3; IsoId=Q96J02-3; Sequence=VSP_044732, VSP_008451; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:14602072}; Peripheral membrane protein {ECO:0000305|PubMed:14602072}; Cytoplasmic side {ECO:0000305|PubMed:14602072}. Cytoplasm {ECO:0000269|PubMed:14602072}. Nucleus {ECO:0000269|PubMed:20858735}. Early endosome membrane {ECO:0000269|PubMed:14602072, ECO:0000269|PubMed:23146885, ECO:0000269|PubMed:24790097}; Peripheral membrane protein {ECO:0000305|PubMed:14602072, ECO:0000305|PubMed:23146885, ECO:0000305|PubMed:24790097}; Cytoplasmic side {ECO:0000305|PubMed:14602072, ECO:0000305|PubMed:23146885, ECO:0000305|PubMed:24790097}. Endosome membrane {ECO:0000269|PubMed:23146885}; Peripheral membrane protein {ECO:0000305|PubMed:23146885}; Cytoplasmic side {ECO:0000305|PubMed:23146885}. Note=May be recruited to exosomes by NDFIP1 (PubMed:18819914). Localizes to plasma membrane upon CXCL12 stimulation where it co-localizes with CXCL4 (PubMed:14602072). Localization to early endosomes is increased upon CXCL12 stimulation where it co-localizes with DTX3L and CXCL4 (PubMed:24790097). {ECO:0000269|PubMed:14602072, ECO:0000269|PubMed:18819914, ECO:0000269|PubMed:24790097}.


