Janus kinase 3

Janus kinase 3

Janus kinase 3 (a protein tyrosine kinase, leukocyte), also known as JAK3, is a human gene.

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summary_text = JAK3 encodes Janus kinase 3, a tyrosine kinase that belongs to the Janus family. JAK3 functions in signal transduction and interacts with members of the STAT (signal transduction and activators of transcription) family. JAK3 is predominantly expressed in immune cells and transduces a signal in response to its activation via tyrosine phosphorylation by interleukin receptors. Mutations that abrogate Janus kinase 3 function cause an autosomal SCID (severe combined immunodeficiency disease). [cite web | title = Entrez Gene: JAK3 Janus kinase 3 (a protein tyrosine kinase, leukocyte)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3718| accessdate = ]

Since JAK3 expression is restricted mostly to hematopoietic cells, its role in cytokine signaling is thought to be more restricted than other JAKs. It is most commonly expressed in T cells and NK cells, but has been induced in other leukocytes, including monocytes. Jak3 is involved in signal transduction by receptors that employ the common gamma chain (γC) of the type I cytokine receptor family (e.g. IL-2R, IL-4R, IL-7R, IL-9R, IL-15R, and IL-21R) [cite journal |author=Johnston JA, Kawamura M, Kirken RA, Chen YQ, Blake TB, Shibuya K, Ortaldo JR, McVicar DW, O'Shea JJ. |title=Phosphorylation and activation of the Jak-3 Janus kinase in response to interleukin-2 |journal=Nature |volume=370 |issue=6485 |pages=151–153 |year=1994 |pmid=8022485 |doi=10.1038/370151a0 ] . Mutations of JAK3 result in severe combined immunodeficiency (SCID). Mice that do not express JAK3 have T-cells and B-cells that fail to respond to many cytokines.cite journal |author=Fujimoto M, Naka T, Nakagawa R, Kawazoe Y, Morita Y, Tateishi A, Okumura K, Narazaki M, Kishimoto T |title=Defective thymocyte development and perturbed homeostasis of T cells in STAT-induced STAT inhibitor-1/suppressors of cytokine signaling-1 transgenic mice |journal=J. Immunol. |volume=165 |issue=4 |pages=1799–806 |year=2000 |pmid=10925257 |doi=]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Notarangelo LD, Mella P, Jones A, "et al." |title=Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency. |journal=Hum. Mutat. |volume=18 |issue= 4 |pages= 255–63 |year= 2002 |pmid= 11668610 |doi= 10.1002/humu.1188
*cite journal | author=Russell SM, Tayebi N, Nakajima H, "et al." |title=Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development. |journal=Science |volume=270 |issue= 5237 |pages= 797–800 |year= 1995 |pmid= 7481768 |doi=
*cite journal | author=Johnston JA, Wang LM, Hanson EP, "et al." |title=Interleukins 2, 4, 7, and 15 stimulate tyrosine phosphorylation of insulin receptor substrates 1 and 2 in T cells. Potential role of JAK kinases. |journal=J. Biol. Chem. |volume=270 |issue= 48 |pages= 28527–30 |year= 1996 |pmid= 7499365 |doi=
*cite journal | author=Musso T, Johnston JA, Linnekin D, "et al." |title=Regulation of JAK3 expression in human monocytes: phosphorylation in response to interleukins 2, 4, and 7. |journal=J. Exp. Med. |volume=181 |issue= 4 |pages= 1425–31 |year= 1995 |pmid= 7535338 |doi=
*cite journal | author=Rolling C, Treton D, Beckmann P, "et al." |title=JAK3 associates with the human interleukin 4 receptor and is tyrosine phosphorylated following receptor triggering. |journal=Oncogene |volume=10 |issue= 9 |pages= 1757–61 |year= 1995 |pmid= 7538655 |doi=
*cite journal | author=Lai KS, Jin Y, Graham DK, "et al." |title=A kinase-deficient splice variant of the human JAK3 is expressed in hematopoietic and epithelial cancer cells. |journal=J. Biol. Chem. |volume=270 |issue= 42 |pages= 25028–36 |year= 1995 |pmid= 7559633 |doi=
*cite journal | author=Macchi P, Villa A, Giliani S, "et al." |title=Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). |journal=Nature |volume=377 |issue= 6544 |pages= 65–8 |year= 1995 |pmid= 7659163 |doi= 10.1038/377065a0
*cite journal | author=Russell SM, Johnston JA, Noguchi M, "et al." |title=Interaction of IL-2R beta and gamma c chains with Jak1 and Jak3: implications for XSCID and XCID. |journal=Science |volume=266 |issue= 5187 |pages= 1042–5 |year= 1994 |pmid= 7973658 |doi=
*cite journal | author=Miyazaki T, Kawahara A, Fujii H, "et al." |title=Functional activation of Jak1 and Jak3 by selective association with IL-2 receptor subunits. |journal=Science |volume=266 |issue= 5187 |pages= 1045–7 |year= 1994 |pmid= 7973659 |doi=
*cite journal | author=Johnston JA, Kawamura M, Kirken RA, "et al." |title=Phosphorylation and activation of the Jak-3 Janus kinase in response to interleukin-2. |journal=Nature |volume=370 |issue= 6485 |pages= 151–3 |year= 1994 |pmid= 8022485 |doi= 10.1038/370151a0
*cite journal | author=Witthuhn BA, Silvennoinen O, Miura O, "et al." |title=Involvement of the Jak-3 Janus kinase in signalling by interleukins 2 and 4 in lymphoid and myeloid cells. |journal=Nature |volume=370 |issue= 6485 |pages= 153–7 |year= 1994 |pmid= 8022486 |doi= 10.1038/370153a0
*cite journal | author=Kawamura M, McVicar DW, Johnston JA, "et al." |title=Molecular cloning of L-JAK, a Janus family protein-tyrosine kinase expressed in natural killer cells and activated leukocytes. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=91 |issue= 14 |pages= 6374–8 |year= 1994 |pmid= 8022790 |doi=
*cite journal | author=Verbsky JW, Bach EA, Fang YF, "et al." |title=Expression of Janus kinase 3 in human endothelial and other non-lymphoid and non-myeloid cells. |journal=J. Biol. Chem. |volume=271 |issue= 24 |pages= 13976–80 |year= 1996 |pmid= 8662778 |doi=
*cite journal | author=Riedy MC, Dutra AS, Blake TB, "et al." |title=Genomic sequence, organization, and chromosomal localization of human JAK3. |journal=Genomics |volume=37 |issue= 1 |pages= 57–61 |year= 1997 |pmid= 8921370 |doi= 10.1006/geno.1996.0520
*cite journal | author=Fusaki N, Iwamatsu A, Iwashima M, Fujisawa J |title=Interaction between Sam68 and Src family tyrosine kinases, Fyn and Lck, in T cell receptor signaling. |journal=J. Biol. Chem. |volume=272 |issue= 10 |pages= 6214–9 |year= 1997 |pmid= 9045636 |doi=
*cite journal | author=Fujitani Y, Hibi M, Fukada T, "et al." |title=An alternative pathway for STAT activation that is mediated by the direct interaction between JAK and STAT. |journal=Oncogene |volume=14 |issue= 7 |pages= 751–61 |year= 1997 |pmid= 9047382 |doi= 10.1038/sj.onc.1200907
*cite journal | author=Safford MG, Levenstein M, Tsifrina E, "et al." |title=JAK3: expression and mapping to chromosome 19p12-13.1. |journal=Exp. Hematol. |volume=25 |issue= 5 |pages= 374–86 |year= 1997 |pmid= 9168059 |doi=
*cite journal | author=Sharfe N, Dadi HK, O'Shea JJ, Roifman CM |title=Jak3 activation in human lymphocyte precursor cells. |journal=Clin. Exp. Immunol. |volume=108 |issue= 3 |pages= 552–6 |year= 1997 |pmid= 9182906 |doi=
*cite journal | author=Hoffman SM, Lai KS, Tomfohrde J, "et al." |title=JAK3 maps to human chromosome 19p12 within a cluster of proto-oncogenes and transcription factors. |journal=Genomics |volume=43 |issue= 1 |pages= 109–11 |year= 1997 |pmid= 9226382 |doi= 10.1006/geno.1997.4792
*cite journal | author=Candotti F, Oakes SA, Johnston JA, "et al." |title=Structural and functional basis for JAK3-deficient severe combined immunodeficiency. |journal=Blood |volume=90 |issue= 10 |pages= 3996–4003 |year= 1997 |pmid= 9354668 |doi=

External links

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