Biology:SH2D1A
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
SH2 domain–containing protein 1A is a protein that in humans is encoded by the SH2D1A gene.[1][2][3] It is often called SLAM-associated protein (symbol SAP), where "SLAM" refers to signaling lymphocytic activation molecules. It is a SH2 domain–containing molecule (part of a family of such molecules) that plays a role in SLAM signaling. A putative function is as an adaptor for Fyn and competitor of phosphatases, leading to modulation of SLAM family function. SAP has been implicated in autoimmunity,[4] and a mutation of it is associated with X-linked lymphoproliferative disease. At least 32 disease-causing mutations in this gene have been discovered.[5]
Interactions
SH2D1A has been shown to interact with:
References
- ↑ "Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene". Nature Genetics 20 (2): 129–35. Oct 1998. doi:10.1038/2424. PMID 9771704.
- ↑ "The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM". Nature 395 (6701): 462–9. Oct 1998. doi:10.1038/26683. PMID 9774102. Bibcode: 1998Natur.395..462S.
- ↑ "Entrez Gene: SH2D1A SH2 domain protein 1A, Duncan's disease (lymphoproliferative syndrome)". https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=4068.
- ↑ "Signaling lymphocytic activation molecule (SLAM)/SLAM-associated protein pathway regulates human B-cell tolerance". Journal of Allergy and Clinical Immunology 133 (4): 1149–1161. 2014. doi:10.1016/j.jaci.2013.10.051. PMID 24373350.
- ↑ "Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases". Scientific Reports 9 (1). December 2019. doi:10.1038/s41598-019-54976-4. PMID 31819097. Bibcode: 2019NatSR...918577S.
- ↑ "Functional requirements for interactions between CD84 and Src homology 2 domain-containing proteins and their contribution to human T cell activation". Journal of Immunology 171 (5): 2485–95. Sep 2003. doi:10.4049/jimmunol.171.5.2485. PMID 12928397.
- ↑ 7.0 7.1 "Cell surface receptors Ly-9 and CD84 recruit the X-linked lymphoproliferative disease gene product SAP". Blood 97 (12): 3867–74. Jun 2001. doi:10.1182/blood.v97.12.3867. PMID 11389028.
- ↑ "CD84 is up-regulated on a major population of human memory B cells and recruits the SH2 domain containing proteins SAP and EAT-2". European Journal of Immunology 32 (6): 1640–9. Jun 2002. doi:10.1002/1521-4141(200206)32:6<1640::AID-IMMU1640>3.0.CO;2-S. PMID 12115647.
- ↑ 9.0 9.1 9.2 "Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients". The Journal of Biological Chemistry 276 (39): 36809–16. Sep 2001. doi:10.1074/jbc.M101305200. PMID 11477068.
- ↑ "The X-linked lymphoproliferative syndrome gene product SH2D1A associates with p62dok (Dok1) and activates NF-kappa B". Proceedings of the National Academy of Sciences of the United States of America 97 (13): 7470–5. Jun 2000. doi:10.1073/pnas.130193097. PMID 10852966. Bibcode: 2000PNAS...97.7470S.
- ↑ "Dual functional roles for the X-linked lymphoproliferative syndrome gene product SAP/SH2D1A in signaling through the signaling lymphocyte activation molecule (SLAM) family of immune receptors". The Journal of Biological Chemistry 278 (6): 3852–9. Feb 2003. doi:10.1074/jbc.M206649200. PMID 12458214.
- ↑ "SAP couples Fyn to SLAM immune receptors". Nature Cell Biology 5 (2): 155–60. Feb 2003. doi:10.1038/ncb920. PMID 12545174.
- ↑ "Molecular dissection of the signaling and costimulatory functions of CD150 (SLAM): CD150/SAP binding and CD150-mediated costimulation". Blood 99 (3): 957–65. Feb 2002. doi:10.1182/blood.v99.3.957. PMID 11806999.
Further reading
- "A spectrum of mutations in SH2D1A that causes X-linked lymphoproliferative disease and other Epstein-Barr virus-associated illnesses". Leukemia & Lymphoma 43 (6): 1189–201. Jun 2002. doi:10.1080/10428190290026240. PMID 12152986.
- "The SAP and SLAM families in immune responses and X-linked lymphoproliferative disease". Nature Reviews. Immunology 3 (10): 813–21. Oct 2003. doi:10.1038/nri1202. PMID 14523387.
- "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. Sep 1993. PMID 8361760.
- "Characterization of three overlapping deletions causing X-linked lymphoproliferative disease". Genomics 16 (1): 254–5. Apr 1993. doi:10.1006/geno.1993.1169. PMID 8387453.
- "Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome". Proceedings of the National Academy of Sciences of the United States of America 95 (23): 13765–70. Nov 1998. doi:10.1073/pnas.95.23.13765. PMID 9811875. Bibcode: 1998PNAS...9513765N.
- "Crystal structures of the XLP protein SAP reveal a class of SH2 domains with extended, phosphotyrosine-independent sequence recognition". Molecular Cell 4 (4): 555–61. Oct 1999. doi:10.1016/S1097-2765(00)80206-3. PMID 10549287.
- "Novel mode of ligand binding by the SH2 domain of the human XLP disease gene product SAP/SH2D1A". Current Biology 9 (23): 1355–62. Dec 1999. doi:10.1016/S0960-9822(00)80080-9. PMID 10607564. Bibcode: 1999CBio....9.1355L.
- "The X-linked lymphoproliferative syndrome gene product SH2D1A associates with p62dok (Dok1) and activates NF-kappa B". Proceedings of the National Academy of Sciences of the United States of America 97 (13): 7470–5. Jun 2000. doi:10.1073/pnas.130193097. PMID 10852966. Bibcode: 2000PNAS...97.7470S.
- "Defective NK cell activation in X-linked lymphoproliferative disease". Journal of Immunology 165 (7): 3549–53. Oct 2000. doi:10.4049/jimmunol.165.7.3549. PMID 11034354.
- "SH2D1A and SLAM protein expression in human lymphocytes and derived cell lines". International Journal of Cancer 88 (3): 439–47. Nov 2000. doi:10.1002/1097-0215(20001101)88:3<439::AID-IJC17>3.0.CO;2-#. PMID 11054674.
- "CD150 association with either the SH2-containing inositol phosphatase or the SH2-containing protein tyrosine phosphatase is regulated by the adaptor protein SH2D1A". Journal of Immunology 166 (9): 5480–7. May 2001. doi:10.4049/jimmunol.166.9.5480. PMID 11313386.
- "Cell surface receptors Ly-9 and CD84 recruit the X-linked lymphoproliferative disease gene product SAP". Blood 97 (12): 3867–74. Jun 2001. doi:10.1182/blood.V97.12.3867. PMID 11389028.
- "Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients". The Journal of Biological Chemistry 276 (39): 36809–16. Sep 2001. doi:10.1074/jbc.M101305200. PMID 11477068.
- "Regulation of SLAM-mediated signal transduction by SAP, the X-linked lymphoproliferative gene product". Nature Immunology 2 (8): 681–90. Aug 2001. doi:10.1038/90615. PMID 11477403.
- "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"]. The Journal of Experimental Medicine 194 (3): 235–46. Aug 2001. doi:10.1084/jem.194.3.235. PMID 11489943.
- "SH2D1A expression reflects activation of T and NK cells in cord blood lymphocytes infected with EBV and treated with the immunomodulator PSK". Immunology Letters 80 (3): 181–8. Mar 2002. doi:10.1016/S0165-2478(01)00330-3. PMID 11803050.
- "Molecular dissection of the signaling and costimulatory functions of CD150 (SLAM): CD150/SAP binding and CD150-mediated costimulation". Blood 99 (3): 957–65. Feb 2002. doi:10.1182/blood.V99.3.957. PMID 11806999.
- "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". The Journal of Biological Chemistry 277 (15): 13331–7. Apr 2002. doi:10.1074/jbc.M112029200. PMID 11815622.
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