SH2D1A

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SH2 domain protein 1A, Duncan's disease (lymphoproliferative syndrome)
PDB rendering based on 1d1z.
Available structures: 1d1z, 1d4t, 1d4w, 1ka6, 1ka7, 1m27
Identifiers
Symbol(s) SH2D1A; SAP; DSHP; EBVS; IMD5; LYP; MTCP1; XLP; XLPD
External IDs OMIM: 300490 MGI: 1328352 HomoloGene: 1762
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 4068 20400
Ensembl ENSG00000183918 ENSMUSG00000005696
Uniprot O60880 Q544F1
Refseq NM_002351 (mRNA)
NP_002342 (protein)		 XM_903301 (mRNA)
XP_908394 (protein)
Location Chr X: 123.31 - 123.33 Mb Chr X: 38.75 - 38.77 Mb
Pubmed search [1] [2]

SH2 domain protein 1A, Duncan's disease (lymphoproliferative syndrome), also known as SH2D1A, is a human gene.[1]


[edit] References

  1. ^ Entrez Gene: SH2D1A SH2 domain protein 1A, Duncan's disease (lymphoproliferative syndrome).

[edit] 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. 
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