SH2D1A
SH2 domain protein 1A, Duncan's disease (lymphoproliferative syndrome) | |||||||||||||
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PDB rendering based on 1d1z. | |||||||||||||
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Identifiers | |||||||||||||
Symbols | SH2D1A ; SAP; DSHP; EBVS; IMD5; LYP; MTCP1; XLP; XLPD | ||||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 1762 | ||||||||||||
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RNA expression pattern | |||||||||||||
File:PBB GE SH2D1A 210116 at tn.png | |||||||||||||
File:PBB GE SH2D1A 211209 x at tn.png | |||||||||||||
File:PBB GE SH2D1A 211210 x at tn.png | |||||||||||||
More reference expression data | |||||||||||||
Orthologs | |||||||||||||
Template:GNF Ortholog box | |||||||||||||
Species | Human | Mouse | |||||||||||
Entrez | n/a | n/a | |||||||||||
Ensembl | n/a | n/a | |||||||||||
UniProt | n/a | n/a | |||||||||||
RefSeq (mRNA) | n/a | n/a | |||||||||||
RefSeq (protein) | n/a | n/a | |||||||||||
Location (UCSC) | n/a | n/a | |||||||||||
PubMed search | n/a | n/a |
SH2 domain protein 1A, Duncan's disease (lymphoproliferative syndrome), also known as SH2D1A, is a human gene.[1]
References
Further reading
- Sumegi J, Seemayer TA, Huang D; et al. (2003). "A spectrum of mutations in SH2D1A that causes X-linked lymphoproliferative disease and other Epstein-Barr virus-associated illnesses". Leuk. Lymphoma. 43 (6): 1189–201. PMID 12152986.
- Engel P, Eck MJ, Terhorst C (2003). "The SAP and SLAM families in immune responses and X-linked lymphoproliferative disease". Nat. Rev. Immunol. 3 (10): 813–21. doi:10.1038/nri1202. PMID 14523387.
- Stern MH, Soulier J, Rosenzwajg M; et al. (1993). "MTCP-1: a novel gene on the human chromosome Xq28 translocated to the T cell receptor alpha/delta locus in mature T cell proliferations". Oncogene. 8 (9): 2475–83. PMID 8361760.
- Skare J, Wu BL, Madan S; et al. (1993). "Characterization of three overlapping deletions causing X-linked lymphoproliferative disease". Genomics. 16 (1): 254–5. PMID 8387453.
- Coffey AJ, Brooksbank RA, Brandau O; et al. (1998). "Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene". Nat. Genet. 20 (2): 129–35. doi:10.1038/2424. PMID 9771704.
- Sayos J, Wu C, Morra M; et al. (1998). "The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM". Nature. 395 (6701): 462–9. doi:10.1038/26683. PMID 9774102.
- Nichols KE, Harkin DP, Levitz S; et al. (1998). "Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome". Proc. Natl. Acad. Sci. U.S.A. 95 (23): 13765–70. PMID 9811875.
- Poy F, Yaffe MB, Sayos J; et al. (1999). "Crystal structures of the XLP protein SAP reveal a class of SH2 domains with extended, phosphotyrosine-independent sequence recognition". Mol. Cell. 4 (4): 555–61. PMID 10549287.
- Li SC, Gish G, Yang D; et al. (2000). "Novel mode of ligand binding by the SH2 domain of the human XLP disease gene product SAP/SH2D1A". Curr. Biol. 9 (23): 1355–62. PMID 10607564.
- Sylla BS, Murphy K, Cahir-McFarland E; et al. (2000). "The X-linked lymphoproliferative syndrome gene product SH2D1A associates with p62dok (Dok1) and activates NF-kappa B.". Proc. Natl. Acad. Sci. U.S.A. 97 (13): 7470–5. doi:10.1073/pnas.130193097. PMID 10852966.
- Benoit L, Wang X, Pabst HF; et al. (2000). "Defective NK cell activation in X-linked lymphoproliferative disease". J. Immunol. 165 (7): 3549–53. PMID 11034354.
- Nagy N, Cerboni C, Mattsson K; et al. (2000). "SH2D1A and SLAM protein expression in human lymphocytes and derived cell lines". Int. J. Cancer. 88 (3): 439–47. PMID 11054674.
- Shlapatska LM, Mikhalap SV, Berdova AG; et al. (2001). "CD150 association with either the SH2-containing inositol phosphatase or the SH2-containing protein tyrosine phosphatase is regulated by the adaptor protein SH2D1A". J. Immunol. 166 (9): 5480–7. PMID 11313386.
- Sayós J, Martín M, Chen A; et al. (2001). "Cell surface receptors Ly-9 and CD84 recruit the X-linked lymphoproliferative disease gene product SAP". Blood. 97 (12): 3867–74. PMID 11389028.
- Morra M, Simarro-Grande M, Martin M; et al. (2001). "Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients". J. Biol. Chem. 276 (39): 36809–16. doi:10.1074/jbc.M101305200. PMID 11477068.
- Latour S, Gish G, Helgason CD; et al. (2001). "Regulation of SLAM-mediated signal transduction by SAP, the X-linked lymphoproliferative gene product". Nat. Immunol. 2 (8): 681–90. doi:10.1038/90615. PMID 11477403.
- Bottino C, Falco M, Parolini S; et al. (2001). "NTB-A [correction of GNTB-A], a novel SH2D1A-associated surface molecule contributing to the inability of natural killer cells to kill Epstein-Barr virus-infected B cells in X-linked lymphoproliferative disease". J. Exp. Med. 194 (3): 235–46. PMID 11489943.
- Liu A, Klein G, Bandobashi K; et al. (2002). "SH2D1A expression reflects activation of T and NK cells in cord blood lymphocytes infected with EBV and treated with the immunomodulator PSK". Immunol. Lett. 80 (3): 181–8. PMID 11803050.
- Howie D, Simarro M, Sayos J; et al. (2002). "Molecular dissection of the signaling and costimulatory functions of CD150 (SLAM): CD150/SAP binding and CD150-mediated costimulation". Blood. 99 (3): 957–65. PMID 11806999.
- Aoukaty A, Tan R (2002). "Association of the X-linked lymphoproliferative disease gene product SAP/SH2D1A with 2B4, a natural killer cell-activating molecule, is dependent on phosphoinositide 3-kinase". J. Biol. Chem. 277 (15): 13331–7. doi:10.1074/jbc.M112029200. PMID 11815622.