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GeneCard: JAK3   Janus kinase 3 (GC19M017790; Chromosome 19:17,797,961-17,819,800) The following 25 records in the GeneCard text contribute to matching your query: - GENE: JAK3 | Janus kinase 3 - ALIASES: Janus kinase 3 (a protein tyrosine kinase, leukocyte) (EG)| leukocyte Janus kinase (EG)| tyrosine-protein kinase JAK3 (EG)| JAK3_HUMAN (HGNC)| JAK3_HUMAN (EG)| LJAK (HGNC)| LJAK (EG)| JAK-3 (HGNC)| JAK-3 (SP)| JAK-3 (EG)| L-JAK (HGNC)| L-JAK (SP)| L-JAK (EG)| JAKL (OMIM)| JAKL (HGNC)| JAKL (EG)| Janus kinase 3 (SP)| Leukocyte janus kinase (SP) - MOUSE HOMOLOG: Jak3 (on chromosome 8, 33.00 cM) Jun 06 2009 | gbaccs: AK038268 AK088365 AK142178 AK156646 AK164520 BC027234 BC105577 BC131646 BC131647 L32955 L33768 L40172 U71201 | alleles:id=MGI:3611885;symbol=Jak3;category=Chemically induced (ENU);phenotypes=[ptid=MP:0005381;ptdesc="digestive/alimentary phenotype",ptid=MP:0005387;ptdesc="immune system phenotype",ptid=MP:0005397;ptdesc="hematopoietic system phenotype"] && id=MGI:3527456;symbol=Jak3;category=Targeted (knock-out);phenotypes=[ptid=MP:0005387;ptdesc="immune system phenotype",ptid=MP:0005397;ptdesc="hematopoietic system phenotype"] && id=MGI:2675061;symbol=Jak3;category=Targeted (knock-out);phenotypes=[ptid=MP:0005387;ptdesc="immune system phenotype",ptid=MP:0005397;ptdesc="hematopoietic system phenotype"] && id=MGI:1857276;symbol=Jak3;category=Targeted (knock-out);phenotypes=[ptid=MP:0005387;ptdesc="immune system phenotype",ptid=MP:0005397;ptdesc="hematopoietic system phenotype"] && id=MGI:3578806;symbol=Jak3;category=Targeted (knock-out);phenotypes=[ptid=MP:0005387;ptdesc="immune system phenotype",ptid=MP:0005397;ptdesc="hematopoietic system phenotype"] && id=MGI:3614703;symbol=Jak3;category=Not Specified;phenotypes=[ptid=MP:0005372;ptdesc="life span-post-weaning/aging",ptid=MP:0005381;ptdesc="digestive/alimentary phenotype",ptid=MP:0005387;ptdesc="immune system phenotype",ptid=MP:0005397;ptdesc="hematopoietic system phenotype"] && id=MGI:3665252;symbol=Jak3;category=Spontaneous;phenotypes=[ptid=MP:0005387;ptdesc="immune system phenotype",ptid=MP:0005397;ptdesc="hematopoietic system phenotype"] - SWISSPROT: GENE: JAK3                        ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=3; Name=2; Synonyms=JAK3S, Spleen-JAK3; IsoId=P52333-1; Sequence=Displayed; Name=1; Synonyms=JAK3B, Breast-JAK3; IsoId=P52333-2; Sequence=VSP_004989; Note=May be inactive as it lacks some part of the kinase domain; Name=3; Synonyms=JAK3M, Activated monocytes-JAK3; IsoId=P52333-3; Sequence=VSP_004990;                        DISEASE: Defects in JAK3 are a cause of severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-)SCID) [MIM:600802]. SCID refers to a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development                        WEB RESOURCE: Name=JAK3base; Note=JAK3 mutation db; URL="http://bioinf.uta.fi/JAK3base/";                        WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=JAK3";                        WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/jak3/";                        RECOMMENDED_NAME: Tyrosine-protein kinase JAK3 && minedVia: UniProtSWISSPROT: JAK3 | EC 2.7.10.2 |GENE: JAK3| [1124 amino acids; 125099 D] | P52333 |FUNCTION: Tyrosine kinase of the non-receptor type, involved in the interleukin-2 and interleukin-4 signaling pathway. Phosphorylates STAT6, IRS1, IRS2 and PI3K|CATALYTIC ACTIVITY: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate|SUBUNIT: Interacts with STAM2 and MYO18A (By similarity). Interacts with SHB|INTERACTION: Q07666:KHDRBS1; NbExp=1; IntAct=EBI-518246, EBI-1364; |SUBCELLULAR LOCATION: Endomembrane system; Peripheral membrane protein (By similarity). Note=Wholly intracellular, possibly membrane associated (By similarity)|ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=3; Name=2; Synonyms=JAK3S, Spleen-JAK3; IsoId=P52333-1; Sequence=Displayed; Name=1; Synonyms=JAK3B, Breast-JAK3; IsoId=P52333-2; Sequence=VSP_004989; Note=May be inactive as it lacks some part of the kinase domain; Name=3; Synonyms=JAK3M, Activated monocytes-JAK3; IsoId=P52333-3; Sequence=VSP_004990; |TISSUE SPECIFICITY: In NK cells and an NK-like cell line but not in resting T-cells or in other tissues. The S-form is more commonly seen in hematopoietic lines, whereas the B- and M-forms are detected in cells both of hematopoietic and epithelial origins|DOMAIN: Possesses two phosphotransferase domains. The second one probably contains the catalytic domain (By similarity), while the presence of slight differences suggest a different role for domain 1|PTM: Tyrosine phosphorylated in response to IL-2 and IL-4|DISEASE: Defects in JAK3 are a cause of severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-)SCID) [MIM:600802]. SCID refers to a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development|SIMILARITY: Belongs to the protein kinase superfamily. Tyr protein kinase family. JAK subfamily|SIMILARITY: Contains 1 FERM domain|SIMILARITY: Contains 1 protein kinase domain|SIMILARITY: Contains 1 SH2 domain|WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/JAK3ID41032ch19p13.html";|WEB RESOURCE: Name=JAK3base; Note=JAK3 mutation db; URL="http://bioinf.uta.fi/JAK3base/";|WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=JAK3";|WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/jak3/"; |PDB: 1YVJ; |SECONDARY ACCESSIONS: Q13259 Q13260 Q13611 Q9Y6S2 |RECOMMENDED_NAME: Tyrosine-protein kinase JAK3 && minedVia: UniProt - HGMD: JAK3 | HGMD entry for JAK3 | mutations - UNIGENE: Hs.515247 | Janus kinase 3 (a protein tyrosine kinase, leukocyte) | JAK3 | NM_000215 . . . - LITERATURE: Genomic sequence, organization, and chromosomal localization of human JAK3. . . . - ENTREZGENE: chr=19 | contig= | cytoLoc=19p13.1 | dbXrefs=HGNC:6193,MIM:600173,Ensembl:ENSG00000105639,HPRD:02547 | egHugo= | egId=3718 | end=17819800 | geneName=Janus kinase 3 | genomicNucAcc=U70065.1 AC007201.1 AF513860.1 CH471106.1 NG_007273.1 NG_012092.1 AC_000062.1 AC_000151.1 NC_000019.8 NT_011295.10 NW_001838484.1 NW_927195.1 | go=GO:0016020 GO:0005856 GO:0005524 GO:0004715 GO:0012505 GO:0007243 GO:0004718 GO:0005515 GO:0045944 GO:0000166 GO:0019221 GO:0016740 GO:0007167 GO:0018108 | protAcc=AAC50950.1 AAD22741.1 AAM44860.1 EAW84637.1 EAW84638.1 EAW84639.1 EAW84640.1 P52333.2 Q6LD09 Q8N1E8 Q99699 Q9UMU1 BAG59055.1 BAG65227.1 AAH28068.1 AAA17743.1 AAA19626.1 AAC50225.1 AAC50226.1 AAC50542.1 NP_000206.2 | proteinAliases=Janus kinase 3 (a protein tyrosine kinase, leukocyte)|leukocyte Janus kinase|tyrosine-protein kinase JAK3 | refseq=NM_000215.3(REVIEWED) | rnaNucAcc=AK296383.1 AK304392.1 BC028068.1 BF512748.1 BM561964.1 DA405504.1 U08340.1 U09607.1 U31317.1 U31601.1 U57096.1 NM_000215.3 | start=17797961 | status=O | summary=The protein encoded by this gene is a member of the Janus kinase (JAK) family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction. It is predominantly expressed in immune cells and transduces a signal in response to its activation via tyrosine phosphorylation by interleukin receptors. Mutations in this gene are associated with autosomal SCID (severe combined immunodeficiency disease). [provided by RefSeq] | symbol=JAK3 | synonyms=JAK-3 JAK3_HUMAN JAKL L-JAK LJAK | type=protein-coding - HGNC: accs=U31601 | aliases=L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3 | dateApproved=1994-12-19 | dateModified=2009-04-23 | dateNameChanged=2009-04-23 | description=Janus kinase 3 | egCuratedId=3718 | egMappedId=3718 | enzymeIds=2.7.10.1 | geneFamName= | hgnc=6193 | loc=19p13-p12 | mgdId=MGI:99928 | omimId=600173 | prevNames= | prevSymbols= | pubmedIds=8921370, 9226382 | refseqId=NM_000215 | refseqMappedId=NM_000215 | status=Approved | symbol=JAK3 | uniprotId=P52333 - InterPro: entry_id: IPR017441 entry_name: Protein_kinase_ATP_BS|entry_id: IPR001245 entry_name: Tyr_pkinase|entry_id: IPR019749 entry_name: Band_41_domain|entry_id: IPR000980 entry_name: SH2|entry_id: IPR016251 entry_name: TyrPK_Jak|entry_id: IPR009130 entry_name: JAK3|entry_id: IPR000719 entry_name: Prot_kinase_core|entry_id: IPR019747 entry_name: FERM_CS|entry_id: IPR008266 entry_name: Tyr_pkinase_AS|entry_id: IPR009127 entry_name: JAK|entry_id: IPR000299 entry_name: FERM_domain - HomoloGene:HomoloGene: Organism=Mm|Symbol=Jak3|Location=|Description=Janus kinase 3|Nuc_Similarity=80.33|Prot_Similarity=83.91|EntrezGene=16453|GenBank=NM_010589.4|Protein=NP_034719.2|HomologeneId=181|FormatType=new . . . - ACEVIEW: aceviewSymbol = JAK3 | acc=AA233621;quality=1,acc=AI651109;quality=1,acc=BC028068;quality=1,acc=BM561964;quality=1,acc=CF138282;quality=1,acc=AA295850;quality=1,acc=BQ709825;quality=1,acc=AA252892;quality=1,acc=AW500013;quality=1,acc=BM756498;quality=1,acc=BX092592;quality=1,acc=BG397564;quality=1,acc=NM_000215;quality=1,acc=U31601;quality=2,acc=AW503697;quality=2,acc=AW502902;quality=2,acc=BF868609;quality=2,acc=U57096;quality=2,acc=BX116593;quality=2,acc=AW501452;quality=2,acc=U09607;quality=2,acc=AA233419;quality=2,acc=AA490900;quality=2,acc=AW501582;quality=2,acc=BM146700;quality=2,acc=AI032656;quality=2,acc=BG341270;quality=2,acc=AA318605;quality=2,acc=AA252869;quality=2,acc=AA738443;quality=2,acc=AA361724;quality=2,acc=AW500984;quality=2,acc=BE300962;quality=2,acc=AI760261;quality=2,acc=BX415899;quality=2,acc=AI915567;quality=2,acc=AA375283;quality=2,acc=AW576431;quality=2,acc=CF143837;quality=2,acc=AW408832;quality=2,acc=BU942532;quality=2,acc=AW505513;quality=2,acc=CF121602;quality=2,acc=BF512748;quality=2,acc=W81331;quality=3,acc=U08340;quality=3,acc=AA805943;quality=3,acc=BE834301;quality=3,acc=BX370312;quality=3,acc=BV187891;quality=3,acc=W81330;quality=3,acc=AW501263;quality=3,acc=AI809688;quality=3,acc=AA320481;quality=3,acc=AI040121;quality=3,acc=AI761600;quality=3,acc=AV760147;quality=3,acc=U31317;quality=3,acc=BV183840;quality=4,acc=AW499498;quality=4,acc=AW504672;quality=4,acc=BG995133;quality=4,acc=CA311964;quality=4,acc=BI521492;quality=5,acc=BI906136;quality=5,acc=BG011552;quality=5,acc=CF136496;quality=5,acc=AW800340;quality=6,acc=BU430577;quality=6,acc=BX362245;quality=7,acc=BU429453;quality=8,acc=BU428807;quality=8,acc=AI626016;quality=8,acc=BF373713;quality=8,acc=AI472755;quality=9 - HUGENAVIGATOR: geneSymbol=JAK3 | numDocs=6 - ECGENE: geneSymbol=JAK3 - EXPOLDB: geneSymbol=JAK3 - CST: products: protein=Jak3;link=JAK | pathways: protein=Jak3;pathwayKey=Translation_eIF_4;pathwayDescr=Translational Control: Regulation of eIF4E and p70 S6 Kinase; && pathwayKey=Protein_Acetylation;pathwayDescr=Protein Acetylation; | phosphosite: protein=Jak3;link=P52333 | elisa: - ABCAM: proteins: protein=JAK3;tid=7903 | antibodies: protein=JAK3;tid=7903 - SIGMA: species=human | speciesEgid=3718 | speciesSymbol=JAK3 | speciesProducts=categ:SH;relType:shRNA panel;linkId:b3k;linkSymbol:JAK3 && categ:SH;relType:shRNA;linkId:b3k;linkSymbol:JAK3 && categ:SI;relType:siRNA;linkId:b3k;linkSymbol:JAK3 && categ:SI;relType:siRNA panel;linkId:b3k;linkSymbol:JAK3 && categ:SM;relType:inhibitor;linkId:b3k;linkSymbol:JAK3 && categ:AB;relType:antibody;linkId:b3k;linkSymbol:JAK3 | speciesPathwaysSummaryId=ING:b3k | speciesPathways=pathwayId:ING:3qbd0;pathwayDescr:IL-15 Production && pathwayId:ING:1ar1k;pathwayDescr:Glucocorticoid Receptor Signaling && pathwayId:ING:3qbe6;pathwayDescr:IL-15 Signaling && pathwayId:ING:3qbdl;pathwayDescr:IL-9 Signaling && pathwayId:ING:cij;pathwayDescr:IL-4 Signaling && pathwayId:ING:cif;pathwayDescr:JAK/Stat Signaling && pathwayId:ING:3m04x;pathwayDescr:CD40 Signaling && pathwayId:ING:cib;pathwayDescr:IL-2 Signaling && pathwayId:ING:ci5;pathwayDescr:PI3K/AKT Signaling && pathwayId:ING:cja;pathwayDescr:PDGF Signaling && pathwayId:ING:3qbdp;pathwayDescr:Oncostatin M Signaling && pathwayId:ING:41lyn;pathwayDescr:Role of NANOG in Mammalian Embryonic Stem Cell Pluripotency && pathwayId:ING:41lx6;pathwayDescr:Molecular Mechanisms of Cancer - RNDSYSTEMS: productType=6 | link=3826;descr=Jak3 - HINV: geneSymbol=JAK3 - MILLIPORE: uniprotid=P52333 | class=i-1134 # id=UC000186 # name=05-406 # desc="Anti-JAK3, clone B32-32" && class=i-1134 # id=UC018772 # name=GAL10101-V3 # desc=AdenoSilence™ RNAi Virus JAK3-v3 && class=i-1134 # id=UC005749 # name=14-629 # desc="JAK3, active" && class=i-1134 # id=UC000320 # name=06-342 # desc=Anti-JAK3 && class=i-1134 # id=UC011873 # name=AB3807 # desc=Anti-JAK3 && class=i-1134 # id=UC019185 # name=GAL10101 # desc=AdenoSilence™ RNAi Kit JAK3 && class=i-1134 # id=UC005337 # name=60-107 # desc=JAK3 siRNA/siAb™ Assay Kit && class=i-1134 # id=UC000865 # name=06-667 # desc="Anti-JAK3, CT" && class=i-1134 # id=UC019032 # name=04-011 # desc="anti-JAK3, clone HL423" && class=i-1134 # id=UC005382 # name=M-003147 # desc=JAK3 SMARTpool® siRNA reagent && class=i-1134 # id=UC018771 # name=GAL10101-V2 # desc=AdenoSilence™ RNAi Virus JAK3-v2 && class=i-1134 # id=UC005809 # name=12-547 # desc=JAK3tide && class=i-1134 # id=UC018770 # name=GAL10101-V1 # desc=AdenoSilence™ RNAi Virus JAK3-v1 | antibodies=7 | assays=0 | clones=0 | kits=6 | kitsAssays=6 | plasmids=0 | protEnzymes=2 | rnai=6 || egid=3718 | pathways=pathwayKey:107;pathwayDescr:Immune response IL-2 activation and signaling pathway && pathwayKey:108;pathwayDescr:Immune response IL-4 signaling pathway && pathwayKey:141;pathwayDescr:Immune response IL-22 signaling pathway && pathwayKey:142;pathwayDescr:Immune response IL-9 signaling pathway - ABNOVA: link: JAK3 | antibodies:yes | recombProts:yes | rnai:yes - TOCRIS: target: | link:164175 | id:2107 & name:ZM 449829 & action:Potent, selective JAK3 inhibitor & chemAbsNum=[4452-06-6] && id:1344 & name:ZM 39923 hydrochloride & action:Potent, selective JAK3 inhibitor & chemAbsNum=[58753-54-1] && id:1938 & name:AG 490 & action:EGFR-kinase inhibitor. Also JAK2, JAK3 inhibitor & chemAbsNum=[133550-30-8] && id:207720 & name:WHI-P 154 & action:JAK3 kinase inhibitor. Also inhibits EGFR & chemAbsNum=[211555-04-3] - NOVUS: link=JAK3 | catalogNums=H00003718-M03 H00003718-M05 H00003718-M04 H00003718-M02A H00003718-M01A H00003718-M04A H00003718-M03A - SABIOSCIENCES: tfbs:link=JAK3 | gnc:link=JAK3 GeneCard: JAK2   Janus kinase 2 (GC09P004975; Chromosome 9:4,975,245-5,117,995) The following 3 records in the GeneCard text contribute to matching your query: - LITERATURE: The pseudokinase domain is required for suppression of basal activity of Jak2 and Jak3 tyrosine kinases and for cytokine-inducible activation of signal transduction. . . . - ENSEMBL: ens_id: ENSG00000096968 | Contig: | Start: 4975245 | End: 5117995 | sp_id: JAK2_HUMAN | embl_id: | OMIM: 147796 | Refseq: NM_004972.3 | PDB: | sptrembl_id: A8K910|A9QVL8|B4DYV1|Q506Q0|Q52R86|Q8IXP2 | go_id: ATP binding|JAK-STAT cascade|JAK-STAT cascade involved in growth hormone signaling pathway|Janus kinase activity|SH2 domain binding|STAT protein nuclear translocation|apoptosis|caveola|cell differentiation|cell motion|cytoplasm|cytoskeleton|endomembrane system|enzyme linked receptor protein signaling pathway|growth hormone receptor binding|interleukin-12 receptor binding|membrane|membrane raft|mesoderm development|myeloid cell differentiation|negative regulation of DNA binding|negative regulation of cell proliferation|non-membrane spanning protein tyrosine kinase activity|nucleotide binding|nucleus|peptidyl-tyrosine phosphorylation|positive regulation of growth hormone receptor signaling pathway|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of phosphoinositide 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein amino acid phosphorylation|protein binding|protein kinase activity|protein kinase cascade|protein serine/threonine kinase activity|protein tyrosine kinase activity|receptor binding|response to antibiotic|transferase activity|tyrosine phosphorylation of STAT protein | band: 9p24.1 | ens_protid: ENSP00000371067 | ens_transcriptid: ENST00000381652 | paralogs: ens_id=ENSG00000105639;symbol=JAK3; , ens_id=ENSG00000162434;symbol=JAK1; , ens_id=ENSG00000105397;symbol=TYK2; - TOCRIS: target: | link:164175 | id:138031 & name:1,2,3,4,5,6-Hexabromocyclohexane & action:Inhibits JAK2 autophosphorylation & chemAbsNum=[1837-91-8] && id:1938 & name:AG 490 & action:EGFR-kinase inhibitor. Also JAK2, JAK3 inhibitor & chemAbsNum=[133550-30-8] && id:47264 & name:Cucurbitacin I & action:Selective inhibitor of STAT3/JAK2 signaling & chemAbsNum=[2222-07-3] && id:221206 & name:Lestaurtinib & action:JAK2, FLT3 and TrkA inhibitor & chemAbsNum=[111358-88-4] GeneCard: MYO18A   myosin XVIIIA (GC17M024425; Chromosome 17:24,424,654-24,531,533) The following 3 records in the GeneCard text contribute to matching your query: - ALIASES: DKFZp686L0243 (EG)| SP-A receptor subunit SP-R210 alphaS (EG)| myosin 18A (EG)| myosin containing PDZ domain (EG)| MysPDZ (HGNC)| TIAF1 (OMIM)| SPR210 (OMIM)| SPR210 (EG)| KIAA0216 (OMIM)| KIAA0216 (HGNC)| KIAA0216 (SP)| KIAA0216 (EG)| MAJN (OMIM)| MAJN (SP)| MYSPDZ (OMIM)| MYSPDZ (SP)| MYSPDZ (EG)| Molecule associated with JAK3 N-terminus (SP)| Myosin containing a PDZ domain (SP) - SWISSPROT: SUBUNIT: Homodimer. Interacts with JAK3 and actinSWISSPROT: MY18A | |GENE: MYO18A| [2054 amino acids; 233115 D] | Q92614 |FUNCTION: May be involved in the maintenance of the stromal cell architectures required for cell to cell contact (By similarity)|SUBUNIT: Homodimer. Interacts with JAK3 and actin|INTERACTION: Self; NbExp=1; IntAct=EBI-949059, EBI-949059; |SUBCELLULAR LOCATION: Isoform 1: Endoplasmic reticulum-Golgi intermediate compartment (By similarity). Cytoplasm, cytoskeleton. Note=Colocalizes with actin|SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Note=Lacks the PDZ domain. Diffusely localized in the cytoplasm|ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=Alpha; IsoId=Q92614-1; Sequence=Displayed; Name=2; Synonyms=Beta; IsoId=Q92614-2; Sequence=VSP_007869, VSP_007870; Name=3; IsoId=Q92614-3; Sequence=VSP_007871, VSP_007872; Note=No experimental confirmation available; Name=4; IsoId=Q92614-4; Sequence=VSP_007872; Note=No experimental confirmation available; Name=5; IsoId=Q92614-5; Sequence=VSP_023058, VSP_007872; |SIMILARITY: Contains 1 IQ domain|SIMILARITY: Contains 1 myosin head-like domain|SIMILARITY: Contains 1 PDZ (DHR) domain|CAUTION: The TIAF1 protein is coded in the 3'-UTR region of MYO18A |SECONDARY ACCESSIONS: Q5H9U3 Q5W9F9 Q5W9G1 Q8IXP8 |RECOMMENDED_NAME: Myosin-XVIIIa && minedVia: UniProt - LITERATURE: A novel protein MAJN binds to Jak3 and inhibits apoptosis induced by IL-2 deprival. . . . GeneCard: JAK1   Janus kinase 1 (GC01M065010; Chromosome 1:65,071,494-65,204,775) The following 2 records in the GeneCard text contribute to matching your query: - LITERATURE: Somatic mutations of JAK1 and JAK3 in acute leukemias and solid cancers. . . . - ENSEMBL: ens_id: ENSG00000162434 | Contig: | Start: 65071494 | End: 65204775 | sp_id: JAK1_HUMAN | embl_id: | OMIM: 147795 | Refseq: NM_002227.2 | PDB: | sptrembl_id: Q0VGA4|Q4LDX3|Q6P669|Q8IV82|Q9UD26 | go_id: |ATP binding|Janus kinase activity|cytokine-mediated signaling pathway|cytoplasm|cytoskeleton|endomembrane system|enzyme linked receptor protein signaling pathway|growth hormone receptor binding|membrane|non-membrane spanning protein tyrosine kinase activity|nucleotide binding|nucleus|peptidyl-tyrosine phosphorylation|protein amino acid phosphorylation|protein binding|protein kinase activity|protein kinase cascade|protein serine/threonine kinase activity|protein tyrosine kinase activity|response to antibiotic|transferase activity | band: 1p31.3 | ens_protid: ENSP00000343204 | ens_transcriptid: ENST00000342505 | paralogs: ens_id=ENSG00000105639;symbol=JAK3; , ens_id=ENSG00000096968;symbol=JAK2; , ens_id=ENSG00000105397;symbol=TYK2; GeneCard: TYK2   tyrosine kinase 2 (GC19M010322; Chromosome 19:10,322,209-10,352,211) The following 2 records in the GeneCard text contribute to matching your query: - LITERATURE: Somatic mutations of JAK1 and JAK3 in acute leukemias and solid cancers. . . . - ENSEMBL: ens_id: ENSG00000105397 | Contig: | Start: 10322209 | End: 10350114 | sp_id: TYK2_HUMAN | embl_id: | OMIM: 176941 | Refseq: NM_003331.4 | PDB: | sptrembl_id: B4E123|Q53HA9 | go_id: ATP binding|Janus kinase activity|cytoplasm|cytoskeleton|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity|nucleotide binding|nucleus|protein amino acid phosphorylation|protein binding|protein kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity|transferase activity | band: 19p13.2 | ens_protid: ENSP00000264818 | ens_transcriptid: ENST00000264818 | paralogs: ens_id=ENSG00000105639;symbol=JAK3; , ens_id=ENSG00000096968;symbol=JAK2; , ens_id=ENSG00000162434;symbol=JAK1; GeneCard: ADA   adenosine deaminase (GC20M042681; Chromosome 20:42,681,577-42,713,795) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review. . . . GeneCard: ADCY10   adenylate cyclase 10 (soluble) (GC01M166046; Chromosome 1:166,045,506-166,149,964) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Downregulation of JAK3 protein levels in T lymphocytes by prostaglandin E2 and other cyclic adenosine monophosphate-elevating agents: impact on interleukin-2 receptor signaling pathway. . . . GeneCard: ADIPOQ   adiponectin, C1Q and collagen domain containing (GC03P188044; Chromosome 3:188,043,157-188,058,946) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Oncostatin M decreases adiponectin expression and induces dedifferentiation of adipocytes by JAK3- and MEK-dependent pathways. . . . GeneCard: ALK   anaplastic lymphoma receptor tyrosine kinase (GC02M029327; Chromosome 2:29,269,144-29,997,936) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Loss of SHP1 enhances JAK3/STAT3 signaling and decreases proteosome degradation of JAK3 and NPM-ALK in ALK+ anaplastic large-cell lymphoma. . . . GeneCard: AR   androgen receptor (GC0XP066680; Chromosome X:66,680,599-66,860,844) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review. . . . GeneCard: BCL2   B-cell CLL/lymphoma 2 (GC18M058941; Chromosome 18:58,941,559-59,138,341) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Critical role of the interleukin 2 (IL-2) receptor gamma-chain-associated Jak3 in the IL-2-induced c-fos and c-myc, but not bcl-2, gene induction. . . . GeneCard: BLNK   B-cell linker (GC10M097941; Chromosome 10:97,941,445-98,021,316) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: BLNK suppresses pre-B-cell leukemogenesis through inhibition of JAK3. . . . GeneCard: BTK   Bruton agammaglobulinemia tyrosine kinase (GC0XM100491; Chromosome X:100,491,091-100,527,838) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Targeting JAK3 and BTK tyrosine kinases with rationally-designed inhibitors. . . . GeneCard: CCL5   chemokine (C-C motif) ligand 5 (GC17M031222; Chromosome 17:31,222,608-31,231,910) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Rantes activates Jak2 and Jak3 to regulate engagement of multiple signaling pathways in T cells. . . . GeneCard: CCND2   cyclin D2 (GC12P004253; Chromosome 12:4,253,199-4,284,777) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Constitutive activation of JAK3/STAT3 in colon carcinoma tumors and cell lines: inhibition of JAK3/STAT3 signaling induces apoptosis and cell cycle arrest of colon carcinoma cells. . . . GeneCard: CCR5   chemokine (C-C motif) receptor 5 (GC03P046386; Chromosome 3:46,386,637-46,392,701) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Rantes activates Jak2 and Jak3 to regulate engagement of multiple signaling pathways in T cells. . . . GeneCard: CD247   CD247 molecule (GC01M165666; Chromosome 1:165,666,505-165,754,456) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Cytokine-independent Jak3 activation upon T cell receptor (TCR) stimulation through direct association of Jak3 and the TCR complex. . . . GeneCard: CD3E   CD3e molecule, epsilon (CD3-TCR complex) (GC11P117680; Chromosome 11:117,680,656-117,692,100) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Cytokine-independent Jak3 activation upon T cell receptor (TCR) stimulation through direct association of Jak3 and the TCR complex. . . . GeneCard: CD4   CD4 molecule (GC12P006769; Chromosome 12:6,768,912-6,800,237) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Cutting edge: JAK3 activation and rescue of T cells from HIV gp120-induced unresponsiveness. . . . GeneCard: CD40   CD40 molecule, TNF receptor superfamily member 5 (GC20P044181; Chromosome 20:44,180,313-44,195,894) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Jak3 is associated with CD40 and is critical for CD40 induction of gene expression in B cells. . . . GeneCard: CD80   CD80 molecule (GC03M120725; Chromosome 3:120,725,830-120,761,171) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Role of JAK3 in CD40-mediated signaling. . . . GeneCard: CDK2   cyclin-dependent kinase 2 (GC12P054646; Chromosome 12:54,646,826-54,652,835) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Activation of the Jak3 pathway is associated with granulocytic differentiation of myeloid precursor cells. . . . GeneCard: CDK6   cyclin-dependent kinase 6 (GC07M092072; Chromosome 7:92,072,171-92,301,148) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Activation of the Jak3 pathway is associated with granulocytic differentiation of myeloid precursor cells. . . . GeneCard: CSF1   colony stimulating factor 1 (macrophage) (GC01P110165; Chromosome 1:110,254,980-110,273,884) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Regulation of JAK3 expression in human monocytes: phosphorylation in response to interleukins 2, 4, and 7. . . . GeneCard: CSF3   colony stimulating factor 3 (granulocyte) (GC17P035425; Chromosome 17:35,425,140-35,427,592) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Activation of the Jak3 pathway is associated with granulocytic differentiation of myeloid precursor cells. . . . GeneCard: CXCL12   chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1) (GC10M044185; Chromosome 10:44,185,611-44,200,548) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: CXCL12 signaling is independent of Jak2 and Jak3. . . . GeneCard: DCLRE1C   DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae) (GC10M014980; Chromosome 10:14,981,169-15,036,100) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review. . . . GeneCard: FCER2   Fc fragment of IgE, low affinity II, receptor for (CD23) (GC19M007659; Chromosome 19:7,659,662-7,672,997) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Role of JAK3 in CD40-mediated signaling. . . . GeneCard: GHR   growth hormone receptor (GC05P042459; Chromosome 5:42,459,783-42,757,683) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Activation of JAK3, but not JAK1, is critical for IL-2-induced proliferation and STAT5 recruitment by a COOH-terminal region of the IL-2 receptor beta-chain. . . . GeneCard: HCK   hemopoietic cell kinase (GC20P030103; Chromosome 20:30,103,706-30,153,320) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: The JAK3 inhibitor WHI-P154 prevents PDGF-evoked process outgrowth in human neural precursor cells. . . . GeneCard: ICAM1   intercellular adhesion molecule 1 (GC19P010247; Chromosome 19:10,242,765-10,258,291) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Role of JAK3 in CD40-mediated signaling. . . . GeneCard: IGHJ1   immunoglobulin heavy joining 1 (GC14M105532; Chromosome 14:105,402,660-105,402,713) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Eleven novel JAK3 mutations in patients with severe combined immunodeficiency-including the first patients with mutations in the kinase domain. . . . GeneCard: IL13   interleukin 13 (GC05P132021; Chromosome 5:132,021,764-132,024,700) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Interleukin-13 is a potent activator of JAK3 and STAT6 in cells expressing interleukin-2 receptor-gamma and interleukin-4 receptor-alpha. . . . GeneCard: IL15   interleukin 15 (GC04P142875; Chromosome 4:142,777,204-142,874,062) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Jak3 negatively regulates dendritic-cell cytokine production and survival. . . . GeneCard: IL18R1   interleukin 18 receptor 1 (GC02P102345; Chromosome 2:102,294,421-102,381,650) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Crystal structure of the Jak3 kinase domain in complex with a staurosporine analog. . . . GeneCard: IL1RAPL2   interleukin 1 receptor accessory protein-like 2 (GC0XP103617; Chromosome X:103,697,652-104,898,478) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Monocyte function in a severe combined immunodeficient patient with a donor splice site mutation in the Jak3 gene. . . . GeneCard: IL2   interleukin 2 (GC04M123652; Chromosome 4:123,592,075-123,597,100) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Cell type-specific roles of Jak3 in IL-2-induced proliferative signal transduction. . . . GeneCard: IL21   interleukin 21 (GC04M123813; Chromosome 4:123,739,272-123,761,662) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Jak3 negatively regulates dendritic-cell cytokine production and survival. . . . GeneCard: IL21R   interleukin 21 receptor (GC16P027321; Chromosome 16:27,321,224-27,369,616) The following 1 record in the GeneCard text contributes to matching your query: - ENTREZGENE: chr=16 | contig= | cytoLoc=16p11 | dbXrefs=HGNC:6006,MIM:605383,Ensembl:ENSG00000103522,HPRD:05649 | egHugo= | egId=50615 | end=27369616 | geneName=interleukin 21 receptor | genomicNucAcc=AC002303.1 AC004525.1 AY064474.1 CS080576.1 CH471145.2 NG_012222.1 AC_000059.1 AC_000148.1 NC_000016.8 NT_010393.15 NW_001838401.1 NW_926217.1 | go=GO:0016020 GO:0030101 GO:0004872 GO:0016021 GO:0001532 | protAcc=AAL39168.1 CAI94502.1 EAW55746.1 EAW55747.1 EAW55748.1 EAW55749.1 Q9HBE5.1 AAG29346.1 AAG23419.1 BAF85352.1 BAG35682.1 AAQ89185.1 AAH04348.1 AAH07946.2 ABM87726.1 ABW03862.1 NP_068570.1 NP_851564.1 NP_851565.1 | proteinAliases=- | refseq=NM_021798.2(REVIEWED) NM_181078.1(REVIEWED) NM_181079.1(REVIEWED) | rnaNucAcc=AA354979.1 AF254067.1 AF269133.1 AK292663.1 AK312825.1 AY358826.1 BC004348.1 BC007946.2 BQ215949.1 BX401767.2 DQ896727.2 EU176411.1 NM_021798.2 NM_181078.1 NM_181079.1 | start=27321224 | status=O | summary=The protein encoded by this gene is a cytokine receptor for interleukin 21 (IL21). It belongs to the type I cytokine receptors, and has been shown to form a heterodimeric receptor complex with the common gamma-chain, a receptor subunit also shared by the receptors for interleukin 2, 4, 7, 9, and 15. This receptor transduces the growth promoting signal of IL21, and is important for the proliferation and differentiation of T cells, B cells, and natural killer (NK) cells. The ligand binding of this receptor leads to the activation of multiple downstream signaling molecules, including JAK1, JAK3, STAT1, and STAT3. Knockout studies of a similar gene in mouse suggest a role for this gene in regulating immunoglobulin production. Three alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq] | symbol=IL21R | synonyms=MGC10967 NILR | type=protein-coding GeneCard: IL22RA2   interleukin 22 receptor, alpha 2 (GC06M137506; Chromosome 6:137,506,650-137,536,478) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: CXCL12 signaling is independent of Jak2 and Jak3. . . . GeneCard: IL2RA   interleukin 2 receptor, alpha (GC10M006093; Chromosome 10:6,081,835-6,144,278) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Cutting edge: JAK3 activation and rescue of T cells from HIV gp120-induced unresponsiveness. . . . GeneCard: IL2RB   interleukin 2 receptor, beta (GC22M035846; Chromosome 22:35,851,824-35,875,976) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Delineation of the regions of interleukin-2 (IL-2) receptor beta chain important for association of Jak1 and Jak3. Jak1-independent functional recruitment of Jak3 to Il-2Rbeta. . . . GeneCard: IL2RG   interleukin 2 receptor, gamma (severe combined immunodeficiency) (GC0XM070244; Chromosome X:70,243,979-70,248,188) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review. . . . GeneCard: IL3   interleukin 3 (colony-stimulating factor, multiple) (GC05P131424; Chromosome 5:131,424,246-131,426,795) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Reconstitution of early lymphoid proliferation and immune function in Jak3-deficient mice by interleukin-3. . . . GeneCard: IL4   interleukin 4 (GC05P132037; Chromosome 5:132,037,272-132,046,267) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Signaling via IL-2 and IL-4 in JAK3-deficient severe combined immunodeficiency lymphocytes: JAK3-dependent and independent pathways. . . . GeneCard: IL4R   interleukin 4 receptor (GC16P027248; Chromosome 16:27,232,752-27,283,600) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: JAK3 associates with the human interleukin 4 receptor and is tyrosine phosphorylated following receptor triggering. . . . GeneCard: IL6   interleukin 6 (interferon, beta 2) (GC07P022732; Chromosome 7:22,732,028-22,738,146) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Oncostatin M decreases adiponectin expression and induces dedifferentiation of adipocytes by JAK3- and MEK-dependent pathways. . . . GeneCard: IL7   interleukin 7 (GC08M079807; Chromosome 8:79,807,560-79,880,313) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Reconstitution of early lymphoid proliferation and immune function in Jak3-deficient mice by interleukin-3. . . . GeneCard: IL7R   interleukin 7 receptor (GC05P035892; Chromosome 5:35,892,748-35,912,681) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review. . . . GeneCard: IL9   interleukin 9 (GC05M135255; Chromosome 5:135,255,834-135,259,415) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Autocrine release of interleukin-9 promotes Jak3-dependent survival of ALK+ anaplastic large-cell lymphoma cells. . . . GeneCard: INSL3   insulin-like 3 (Leydig cell) (GC19M017788; Chromosome 19:17,788,322-17,793,320) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation. . . . GeneCard: JUN   jun oncogene (GC01M058958; Chromosome 1:59,019,048-59,022,587) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Jak3- and JNK-dependent vascular endothelial growth factor expression in cutaneous T-cell lymphoma. . . . GeneCard: KHDRBS1   KH domain containing, RNA binding, signal transduction associated 1 (GC01P032294; Chromosome 1:32,252,078-32,282,059) The following 1 record in the GeneCard text contributes to matching your query: - SWISSPROT: SUBUNIT: Self-associates to form homooligomers when bound to RNA, oligomerization appears to be limited when binding to proteins. Interacts with CBL, KHDRBS3, LCK, GRB2, JAK3, PIK3R1, PLCG1, PTPN6, RASA1, RBMY1A1 and STAT3. Interacts with PRMT1. Binds the WW domains of WBP4/FBP21, FNBP4/FBP30 and the SH3 domain of FYN through the Arg/Gly-rich-flanked Pro-rich regions (By similarity)                        INTERACTION: P22681:CBL; NbExp=1; IntAct=EBI-1364, EBI-518228; P46108-1:CRK; NbExp=1; IntAct=EBI-1364, EBI-287556; P06241:FYN; NbExp=2; IntAct=EBI-1364, EBI-515315; P62993:GRB2; NbExp=2; IntAct=EBI-1364, EBI-401755; P08631:HCK; NbExp=2; IntAct=EBI-1364, EBI-346340; P52333:JAK3; NbExp=1; IntAct=EBI-1364, EBI-518246; P06239:LCK; NbExp=3; IntAct=EBI-1364, EBI-1348; P06240:Lck (xeno); NbExp=1; IntAct=EBI-1364, EBI-1401; P07948:LYN; NbExp=1; IntAct=EBI-1364, EBI-79452; P19174:PLCG1; NbExp=1; IntAct=EBI-1364, EBI-79387; P29350:PTPN6; NbExp=1; IntAct=EBI-1364, EBI-78260; P51531:SMARCA2; NbExp=2; IntAct=EBI-1364, EBI-679562; P40763:STAT3; NbExp=1; IntAct=EBI-1364, EBI-518675; P50616:TOB1; NbExp=1; IntAct=EBI-1364, EBI-723281;                        PTM: Tyrosine phosphorylated by several non-receptor tyrosine kinases, for example LCK, FYN and JAK3. Negatively correlates with ability to bind RNA but required for many interactions with proteinsSWISSPROT: KHDR1 | |GENE: KHDRBS1| [443 amino acids; 48227 D] | Q07666 |FUNCTION: Recruited and tyrosine phosphorylated by several receptor systems, for example the T-cell, leptin and insulin receptors. Once phosphorylated, functions as an adapter protein in signal transduction cascades by binding to SH2 and SH3 domain-containing proteins. Role in G2-M progression in the cell cycle. Represses CBP-dependent transcriptional activation apparently by competing with other nuclear factors for binding to CBP. Also acts as a putative regulator of mRNA stability and/or translation rates and mediates mRNA nuclear export|FUNCTION: Isoform 3, which is expressed in growth-arrested cells only, inhibits S phase|SUBUNIT: Self-associates to form homooligomers when bound to RNA, oligomerization appears to be limited when binding to proteins. Interacts with CBL, KHDRBS3, LCK, GRB2, JAK3, PIK3R1, PLCG1, PTPN6, RASA1, RBMY1A1 and STAT3. Interacts with PRMT1. Binds the WW domains of WBP4/FBP21, FNBP4/FBP30 and the SH3 domain of FYN through the Arg/Gly-rich-flanked Pro-rich regions (By similarity)|INTERACTION: P22681:CBL; NbExp=1; IntAct=EBI-1364, EBI-518228; P46108-1:CRK; NbExp=1; IntAct=EBI-1364, EBI-287556; P06241:FYN; NbExp=2; IntAct=EBI-1364, EBI-515315; P62993:GRB2; NbExp=2; IntAct=EBI-1364, EBI-401755; P08631:HCK; NbExp=2; IntAct=EBI-1364, EBI-346340; P52333:JAK3; NbExp=1; IntAct=EBI-1364, EBI-518246; P06239:LCK; NbExp=3; IntAct=EBI-1364, EBI-1348; P06240:Lck (xeno); NbExp=1; IntAct=EBI-1364, EBI-1401; P07948:LYN; NbExp=1; IntAct=EBI-1364, EBI-79452; P19174:PLCG1; NbExp=1; IntAct=EBI-1364, EBI-79387; P29350:PTPN6; NbExp=1; IntAct=EBI-1364, EBI-78260; P51531:SMARCA2; NbExp=2; IntAct=EBI-1364, EBI-679562; P40763:STAT3; NbExp=1; IntAct=EBI-1364, EBI-518675; P50616:TOB1; NbExp=1; IntAct=EBI-1364, EBI-723281; |SUBCELLULAR LOCATION: Nucleus. Membrane|ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q07666-1; Sequence=Displayed; Name=2; IsoId=Q07666-2; Sequence=VSP_051719; Note=No experimental confirmation available; Name=3; Synonyms=DeltaKH; IsoId=Q07666-3; Sequence=VSP_051720; |TISSUE SPECIFICITY: Ubiquitously expressed in all tissue examined. Isoform 1 is expressed at lower levels in brain, skeletal muscle, and liver whereas isoform 3 is intensified in skeletal muscle and in liver|DEVELOPMENTAL STAGE: Isoform 3 is only expressed in growth-arrested cells|DOMAIN: The KH domain is required for binding to RNA (By similarity)|DOMAIN: The Pro-rich domains are flanked by Arg/Gly-rich motifs which can be asymmetric dimethylated on arginine residues to give the DMA/Gly-rich regions. Selective methlylation on these motifs can modulate protein-protein interactions (By similarity)|PTM: Tyrosine phosphorylated by several non-receptor tyrosine kinases, for example LCK, FYN and JAK3. Negatively correlates with ability to bind RNA but required for many interactions with proteins|PTM: Acetylated. Positively correlates with ability to bind RNA|PTM: Arginine methylation is required for nuclear localization. Also can affect interaction with other proteins. Inhibits interaction with Src-like SH3 domains, but not interaction with WW domains of WBP4/FBP21 AND FNBP4/FBP30|PTM: Arg-291, Arg-331 and Arg-346 are found to be also dimethylated, probably to asymmetric dimethylarginine|SIMILARITY: Belongs to the KHDRBS family|SIMILARITY: Contains 1 KH domain|SEQUENCE CAUTION: Sequence=AAH10132.1; Type=Miscellaneous discrepancy; Note=Intron retention; |SECONDARY ACCESSIONS: Q6PJX7 Q8NB97 Q99760 |RECOMMENDED_NAME: KH domain-containing, RNA-binding, signal transduction-associated protein 1 && minedVia: UniProt GeneCard: LCK   lymphocyte-specific protein tyrosine kinase (GC01P032489; Chromosome 1:32,489,427-32,524,353) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Hierarchy of protein tyrosine kinases in interleukin-2 (IL-2) signaling: activation of syk depends on Jak3; however, neither Syk nor Lck is required for IL-2-mediated STAT activation. . . . GeneCard: MAPK14   mitogen-activated protein kinase 14 (GC06P036103; Chromosome 6:36,103,551-36,186,513) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Rantes activates Jak2 and Jak3 to regulate engagement of multiple signaling pathways in T cells. . . . GeneCard: MAPK3   mitogen-activated protein kinase 3 (GC16M030032; Chromosome 16:30,032,927-30,042,131) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: JAK3, STAT, and MAPK signaling pathways as novel molecular targets for the tyrphostin AG-490 regulation of IL-2-mediated T cell response. . . . GeneCard: MAPKAPK2   mitogen-activated protein kinase-activated protein kinase 2 (GC01P204924; Chromosome 1:204,924,912-204,974,249) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Rantes activates Jak2 and Jak3 to regulate engagement of multiple signaling pathways in T cells. . . . GeneCard: MCL1   myeloid cell leukemia sequence 1 (BCL2-related) (GC01M148813; Chromosome 1:148,813,658-148,818,760) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Constitutive activation of JAK3/STAT3 in colon carcinoma tumors and cell lines: inhibition of JAK3/STAT3 signaling induces apoptosis and cell cycle arrest of colon carcinoma cells. . . . GeneCard: MDM2   Mdm2 p53 binding protein homolog (mouse) (GC12P067488; Chromosome 12:67,488,247-67,520,481) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Differential expression of Janus kinase 3 (JAK3), matrix metalloproteinase 13 (MMP13), heat shock protein 60 (HSP60), and mouse double minute 2 (MDM2) in human colorectal cancer progression using human cancer cDNA microarrays. . . . GeneCard: MMP13   matrix metallopeptidase 13 (collagenase 3) (GC11M102318; Chromosome 11:102,318,934-102,331,672) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Differential expression of Janus kinase 3 (JAK3), matrix metalloproteinase 13 (MMP13), heat shock protein 60 (HSP60), and mouse double minute 2 (MDM2) in human colorectal cancer progression using human cancer cDNA microarrays. . . . GeneCard: MMP9   matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (GC20P044070; Chromosome 20:44,070,954-44,078,607) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: EGF-induced MMP-9 expression is mediated by the JAK3/ERK pathway, but not by the JAK3/STAT-3 pathway in a SKBR3 breast cancer cell line. . . . GeneCard: MPL   myeloproliferative leukemia virus oncogene (GC01P043576; Chromosome 1:43,576,062-43,592,722) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Analysis of JAK3, JAK2, and C-MPL mutations in transient myeloproliferative disorder and myeloid leukemia of Down syndrome blasts in children with Down syndrome. . . . GeneCard: MYC   v-myc myelocytomatosis viral oncogene homolog (avian) (GC08P128817; Chromosome 8:128,816,862-128,822,856) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Critical role of the interleukin 2 (IL-2) receptor gamma-chain-associated Jak3 in the IL-2-induced c-fos and c-myc, but not bcl-2, gene induction. . . . GeneCard: NPM1   nucleophosmin (nucleolar phosphoprotein B23, numatrin) (GC05P170746; Chromosome 5:170,747,403-170,770,493) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Loss of SHP1 enhances JAK3/STAT3 signaling and decreases proteosome degradation of JAK3 and NPM-ALK in ALK+ anaplastic large-cell lymphoma. . . . GeneCard: NR0B2   nuclear receptor subfamily 0, group B, member 2 (GC01M027110; Chromosome 1:27,110,566-27,113,047) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Loss of SHP1 enhances JAK3/STAT3 signaling and decreases proteosome degradation of JAK3 and NPM-ALK in ALK+ anaplastic large-cell lymphoma. . . . GeneCard: OSM   oncostatin M (GC22M028983; Chromosome 22:28,988,818-28,992,840) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Oncostatin M decreases adiponectin expression and induces dedifferentiation of adipocytes by JAK3- and MEK-dependent pathways. . . . GeneCard: PIK3CD   phosphoinositide-3-kinase, catalytic, delta polypeptide (GC01P009646; Chromosome 1:9,634,377-9,711,759) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Critical role of the membrane-proximal, proline-rich motif of the interleukin-2 receptor gammac chain in the Jak3-independent signal transduction. . . . GeneCard: PIK3R1   phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (GC05P067558; Chromosome 5:67,558,218-67,633,405) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: JAK3 protein tyrosine kinase mediates interleukin-7-induced activation of phosphatidylinositol-3' kinase. . . . GeneCard: PTK2B   PTK2B protein tyrosine kinase 2 beta (GC08P027224; Chromosome 8:27,224,916-27,372,820) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Targeting JAK3 and BTK tyrosine kinases with rationally-designed inhibitors. . . . GeneCard: PTPN3   protein tyrosine phosphatase, non-receptor type 3 (GC09M111177; Chromosome 9:111,177,800-111,300,407) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Restoration of shp1 expression by 5-AZA-2'-deoxycytidine is associated with downregulation of JAK3/STAT3 signaling in ALK-positive anaplastic large cell lymphoma. . . . GeneCard: PTPN6   protein tyrosine phosphatase, non-receptor type 6 (GC12P006911; Chromosome 12:6,926,001-6,940,740) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: SHP-1 expression in peripheral T cells from patients with Sezary syndrome and in the T cell line HUT-78: implications in JAK3-mediated signaling. . . . GeneCard: PTPRC   protein tyrosine phosphatase, receptor type, C (GC01P196874; Chromosome 1:196,874,424-196,993,168) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review. . . . GeneCard: RAG1   recombination activating gene 1 (GC11P036546; Chromosome 11:36,546,139-36,557,862) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review. . . . GeneCard: RAG2   recombination activating gene 2 (GC11M036570; Chromosome 11:36,570,069-36,576,388) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review. . . . GeneCard: SHB   Src homology 2 domain containing adaptor protein B (GC09M037581; Chromosome 9:37,578,417-38,059,249) The following 1 record in the GeneCard text contributes to matching your query: - SWISSPROT: SUBUNIT: Interacts with PTPN11 (By similarity). Interacts with phosphorylated 'Tyr-720' of the ligand-activated receptor PDGFRA via its SH2 domain. Interacts with the ligand-activated receptors PDGFRB, FGFR1, KDR/VEGFR2, IL2RB and IL2RG. Interacts with EPS8 and V-SRC. Interacts with GRB2 and GRAP. Interacts with CD3Z. Interacts with tyrosine-phosphorylated LAT upon T-cell antigen receptor activation. Interacts with PLCG1. Interacts with ZAP70, LCP2/SLP-76, VAV1 and GRAP2. Interacts with JAK1 and JAK3. Interacts with PTK2/FAK1. Interacts with CRK/CrKII. Interacts with IRS2SWISSPROT: SHB | |GENE: SHB| [509 amino acids; 55042 D] | Q15464 |FUNCTION: Adapter protein which regulates several signal transduction cascades by linking activated receptors to downstream signaling components. May play a role in angiogenesis by regulating FGFR1, VEGFR2 and PDGFR signaling. May also play a role in T-cell antigen receptor/TCR signaling, interleukin-2 signaling, apoptosis and neuronal cells differentiation by mediating basic-FGF and NGF-induced signaling cascades. May also regulate IRS1 and IRS2 signaling in insulin-producing cells|SUBUNIT: Interacts with PTPN11 (By similarity). Interacts with phosphorylated 'Tyr-720' of the ligand-activated receptor PDGFRA via its SH2 domain. Interacts with the ligand-activated receptors PDGFRB, FGFR1, KDR/VEGFR2, IL2RB and IL2RG. Interacts with EPS8 and V-SRC. Interacts with GRB2 and GRAP. Interacts with CD3Z. Interacts with tyrosine-phosphorylated LAT upon T-cell antigen receptor activation. Interacts with PLCG1. Interacts with ZAP70, LCP2/SLP-76, VAV1 and GRAP2. Interacts with JAK1 and JAK3. Interacts with PTK2/FAK1. Interacts with CRK/CrKII. Interacts with IRS2|SUBCELLULAR LOCATION: Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Note=Associates with membrane lipid rafts upon TCR stimulation|ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q15464-1; Sequence=Displayed; Name=2; IsoId=Q15464-2; Sequence=VSP_019846, VSP_019847; Note=No experimental confirmation available; |TISSUE SPECIFICITY: Widely expressed|DOMAIN: The SH2 domain preferentially binds phosphopeptides with the consensus sequence Y-[TVI]-X-L and mediates interaction with PDGFRA, PDGFRB, FGRFR1, IL2RB, IL2RG, CD3Z and CRK/CrKII|PTM: Phosphorylated upon PDGFRA, PDGFRB, TCR, IL2 receptor, FGRF1 or VEGFR2 activation|SIMILARITY: Contains 1 SH2 domain |SECONDARY ACCESSIONS: Q504U5 Q5VUM8 |RECOMMENDED_NAME: SH2 domain-containing adapter protein B && minedVia: UniProt GeneCard: SP1   Sp1 transcription factor (GC12P052060; Chromosome 12:52,060,246-52,096,497) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Mechanisms associated with IL-6-induced up-regulation of Jak3 and its role in monocytic differentiation. . . . GeneCard: STAM   signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 (GC10P017726; Chromosome 10:17,726,130-17,797,913) The following 1 record in the GeneCard text contributes to matching your query: - ENTREZGENE: chr=10 | contig= | cytoLoc=10p14-p13 | dbXrefs=HGNC:11357,MIM:601899,Ensembl:ENSG00000136738,HPRD:03542 | egHugo= | egId=8027 | end=17797913 | geneName=signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 | genomicNucAcc=AC069542.7 CH471072.2 AC_000053.1 AC_000142.1 NC_000010.9 NT_077569.2 NW_001837931.2 NW_924584.1 | go=GO:0016020 GO:0005070 GO:0007165 GO:0005737 GO:0005768 GO:0006886 GO:0031901 GO:0005515 GO:0005829 | protAcc=EAW86207.1 EAW86208.1 EAW86209.1 Q92783.3 BAG64194.1 BAG37028.1 AAH30586.1 AAC50734.1 NP_003464.1 | proteinAliases=HSE1 homolog|OTTHUMP00000019237|signal transducing adaptor molecule 1 | refseq=NM_003473.2(REVIEWED) | rnaNucAcc=AK024383.1 AK303083.1 AK314405.1 AU118708.1 BC030586.2 BX647982.1 U43899.1 NM_003473.2 | start=17726130 | status=O | summary=This gene was identified by the rapid tyrosine-phosphorylation of its product in response to cytokine stimulation. The encoded protein contains a SH3 domain and the immunoreceptor tyrosine-based activation motif (ITAM). This protein associates with JAK3 and JAK2 kinases via its ITAM region, and is phosphorylated by the JAK kinases upon cytokine stimulation, which suggests the function of this protein is as an adaptor molecule involved in the downstream signaling of cytokine receptors. HGS/HRS (hepatocyte grwoth factor-regulated tyrosine kinase substrate) has been found to bind and counteract the function of this protein. [provided by RefSeq] | symbol=STAM | synonyms=DKFZp686J2352 STAM1 | type=protein-coding GeneCard: STAM2   signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 (GC02M152683; Chromosome 2:152,683,352-152,740,752) The following 1 record in the GeneCard text contributes to matching your query: - SWISSPROT: SUBUNIT: Component of the ESCRT-0 complex composed of STAM or STAM2 and HGS. Part of a complex at least composed of HSG, STAM2 and EPS15. Interacts with JAK2 and JAK3. Interacts with ubiquitinated proteins and the deubiquitinating enzyme USP8/UBPY (By similarity). Interacts (via the via the PxVxL motif) with CBX5; the interaction is direct. Interacts with VPS37C. Interacts with ubiquitin; the interaction is directSWISSPROT: STAM2 | |GENE: STAM2| [525 amino acids; 58164 D] | O75886 |FUNCTION: Involved in intracellular signal transduction mediated by cytokines and growth factors. Upon IL-2 and GM-CSL stimulation, it plays a role in signaling leading to DNA synthesis and c-myc induction. May also play a role in T-cell development. Involved in down-regulation of receptor tyrosine kinase via multivesicular body (MVBs) when complexed with HGS (ESCRT-0 complex). The ESCRT-0 complex binds ubiquitin and acts as sorting machinery that recognizes ubiquitinated receptors and transfers them to further sequential lysosomal sorting/trafficking processes (By similarity)|SUBUNIT: Component of the ESCRT-0 complex composed of STAM or STAM2 and HGS. Part of a complex at least composed of HSG, STAM2 and EPS15. Interacts with JAK2 and JAK3. Interacts with ubiquitinated proteins and the deubiquitinating enzyme USP8/UBPY (By similarity). Interacts (via the via the PxVxL motif) with CBX5; the interaction is direct. Interacts with VPS37C. Interacts with ubiquitin; the interaction is direct|INTERACTION: Q13671:RIN1; NbExp=2; IntAct=EBI-373258, EBI-366017; Q8IZH2:XRN1; NbExp=1; IntAct=EBI-373258, EBI-372406; |SUBCELLULAR LOCATION: Cytoplasm (By similarity). Early endosome membrane; Peripheral membrane protein; Cytoplasmic side|ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=STAM2A; IsoId=O75886-1; Sequence=Displayed; Name=2; Synonyms=STAM2B; IsoId=O75886-2; Sequence=VSP_014848; |TISSUE SPECIFICITY: Ubiquitously expressed|DOMAIN: The VHS and UIM domains mediate the interaction with ubiquitinated proteins|DOMAIN: The SH3 domain mediates the interaction with USP8|DOMAIN: Contains one Pro-Xaa-Val-Xaa-Leu (PxVxL) motif, which is required for interaction with chromoshadow domains. This motif requires additional residues -7, -6, +4 and +5 of the central Val which contact the chromoshadow domain|PTM: Phosphorylated in response to IL-2, GM-CSF, EGF and PDGF|SIMILARITY: Belongs to the STAM family|SIMILARITY: Contains 1 ITAM domain|SIMILARITY: Contains 1 SH3 domain|SIMILARITY: Contains 1 UIM (ubiquitin-interacting motif) repeat|SIMILARITY: Contains 1 VHS domain |PDB: 1X2Q; 1X5B; |SECONDARY ACCESSIONS: Q7LDQ0 Q9UF58 |RECOMMENDED_NAME: Signal transducing adapter molecule 2 && minedVia: UniProt GeneCard: STAT1   signal transducer and activator of transcription 1, 91kDa (GC02M191542; Chromosome 2:191,542,121-191,587,181) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Role of a JAK3-dependent biochemical signaling pathway in platelet activation and aggregation. . . . GeneCard: STAT3   signal transducer and activator of transcription 3 (acute-phase response factor) (GC17M037718; Chromosome 17:37,718,869-37,794,039) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Constitutive activation of JAK3/STAT3 in colon carcinoma tumors and cell lines: inhibition of JAK3/STAT3 signaling induces apoptosis and cell cycle arrest of colon carcinoma cells. . . . GeneCard: STAT4   signal transducer and activator of transcription 4 (GC02M191602; Chromosome 2:191,602,547-191,724,561) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Association of single-nucleotide polymorphisms in JAK3, STAT4, and STAT6 with new cardiovascular events in incident dialysis patients. . . . GeneCard: STAT5A   signal transducer and activator of transcription 5A (GC17P037694; Chromosome 17:37,693,091-37,717,484) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Differential substrate recognition capabilities of Janus family protein tyrosine kinases within the interleukin 2 receptor (IL2R) system: Jak3 as a potential molecular target for treatment of leukemias with a hyperactive Jak-Stat signaling machinery. . . . GeneCard: STAT5B   signal transducer and activator of transcription 5B (GC17M037604; Chromosome 17:37,604,721-37,681,950) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: HIV-1 NL4-3, but not IIIB, inhibits JAK3/STAT5 activation in CD4(+) T cells. . . . GeneCard: STAT6   signal transducer and activator of transcription 6, interleukin-4 induced (GC12M055775; Chromosome 12:55,775,458-55,791,428) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Association of single-nucleotide polymorphisms in JAK3, STAT4, and STAT6 with new cardiovascular events in incident dialysis patients. . . . GeneCard: SYK   spleen tyrosine kinase (GC09P092603; Chromosome 9:92,603,891-92,700,652) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Hierarchy of protein tyrosine kinases in interleukin-2 (IL-2) signaling: activation of syk depends on Jak3; however, neither Syk nor Lck is required for IL-2-mediated STAT activation. . . . GeneCard: TIAF1   TGFB1-induced anti-apoptotic factor 1 (GC17M024424; Chromosome 17:24,424,665-24,426,753) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: A novel protein MAJN binds to Jak3 and inhibits apoptosis induced by IL-2 deprival. . . . GeneCard: VEGFA   vascular endothelial growth factor A (GC06P043846; Chromosome 6:43,845,926-43,862,202) The following 1 record in the GeneCard text contributes to matching your query: - LITERATURE: Jak3- and JNK-dependent vascular endothelial growth factor expression in cutaneous T-cell lymphoma. . . .

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