SH2D1A

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SH2D1A
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSH2D1A, DSHP, EBVS, IMD5, LYP, MTCP1, SAP, SAP/XLP, XLPD, XLPD1, SH2 domain containing 1A
External IDsOMIM: 300490 MGI: 1328352 HomoloGene: 1762 GeneCards: SH2D1A
Orthologs
SpeciesHumanMouse
Entrez

4068

20400

Ensembl

ENSG00000183918

ENSMUSG00000005696

UniProt

O60880

O88890

RefSeq (mRNA)

NM_002351
NM_001114937

NM_011364
NM_001313688
NM_001313689
NM_001313691

RefSeq (protein)

NP_001108409
NP_002342

NP_001300617
NP_001300618
NP_001300620
NP_035494

Location (UCSC)Chr X: 124.23 – 124.37 MbChr X: 41.59 – 41.62 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

SH2 domain–containing protein 1A is a protein that in humans is encoded by the SH2D1A gene.[5][6][7] 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,[8] and a mutation of it is associated with X-linked lymphoproliferative disease. At least 32 disease-causing mutations in this gene have been discovered.[9]

Interactions

SH2D1A has been shown to interact with:

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000183918 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000005696 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Coffey AJ, Brooksbank RA, Brandau O, Oohashi T, Howell GR, Bye JM, Cahn AP, Durham J, Heath P, Wray P, Pavitt R, Wilkinson J, Leversha M, Huckle E, Shaw-Smith CJ, Dunham A, Rhodes S, Schuster V, Porta G, Yin L, Serafini P, Sylla B, Zollo M, Franco B, Bolino A, Seri M, Lanyi A, Davis JR, Webster D, Harris A, Lenoir G, de St Basile G, Jones A, Behloradsky BH, Achatz H, Murken J, Fassler R, Sumegi J, Romeo G, Vaudin M, Ross MT, Meindl A, Bentley DR (Oct 1998). "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. doi:10.1038/2424. PMID 9771704. S2CID 9347438.
  6. ^ Sayos J, Wu C, Morra M, Wang N, Zhang X, Allen D, van Schaik S, Notarangelo L, Geha R, Roncarolo MG, Oettgen H, De Vries JE, Aversa G, Terhorst C (Oct 1998). "The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM". Nature. 395 (6701): 462–9. Bibcode:1998Natur.395..462S. doi:10.1038/26683. PMID 9774102. S2CID 4324402.
  7. ^ "Entrez Gene: SH2D1A SH2 domain protein 1A, Duncan's disease (lymphoproliferative syndrome)".
  8. ^ Menard M, et al. (2014). "Signaling lymphocytic activation molecule (SLAM)/SLAM-associated protein pathway regulates human B-cell tolerance". Journal of Allergy and Clinical Immunology. 133 (4): 1149–1161. doi:10.1016/j.jaci.2013.10.051. PMC 4077428. PMID 24373350.
  9. ^ Šimčíková D, Heneberg P (December 2019). "Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases". Scientific Reports. 9 (1): 18577. Bibcode:2019NatSR...918577S. doi:10.1038/s41598-019-54976-4. PMC 6901466. PMID 31819097.
  10. ^ Tangye SG, Nichols KE, Hare NJ, van de Weerdt BC (Sep 2003). "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. doi:10.4049/jimmunol.171.5.2485. PMID 12928397.
  11. ^ a b Sayós J, Martín M, Chen A, Simarro M, Howie D, Morra M, Engel P, Terhorst C (Jun 2001). "Cell surface receptors Ly-9 and CD84 recruit the X-linked lymphoproliferative disease gene product SAP". Blood. 97 (12): 3867–74. doi:10.1182/blood.v97.12.3867. PMID 11389028. S2CID 10530544.
  12. ^ Tangye SG, van de Weerdt BC, Avery DT, Hodgkin PD (Jun 2002). "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. doi:10.1002/1521-4141(200206)32:6<1640::AID-IMMU1640>3.0.CO;2-S. PMID 12115647.
  13. ^ a b c Morra M, Simarro-Grande M, Martin M, Chen AS, Lanyi A, Silander O, Calpe S, Davis J, Pawson T, Eck MJ, Sumegi J, Engel P, Li SC, Terhorst C (Sep 2001). "Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients". The Journal of Biological Chemistry. 276 (39): 36809–16. doi:10.1074/jbc.M101305200. hdl:2437/230556. PMID 11477068.
  14. ^ Sylla BS, Murphy K, Cahir-McFarland E, Lane WS, Mosialos G, Kieff E (Jun 2000). "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. Bibcode:2000PNAS...97.7470S. doi:10.1073/pnas.130193097. PMC 16569. PMID 10852966.
  15. ^ Li C, Iosef C, Jia CY, Han VK, Li SS (Feb 2003). "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. doi:10.1074/jbc.M206649200. PMID 12458214.
  16. ^ Chan B, Lanyi A, Song HK, Griesbach J, Simarro-Grande M, Poy F, Howie D, Sumegi J, Terhorst C, Eck MJ (Feb 2003). "SAP couples Fyn to SLAM immune receptors". Nature Cell Biology. 5 (2): 155–60. doi:10.1038/ncb920. PMID 12545174. S2CID 9840321.
  17. ^ Howie D, Simarro M, Sayos J, Guirado M, Sancho J, Terhorst C (Feb 2002). "Molecular dissection of the signaling and costimulatory functions of CD150 (SLAM): CD150/SAP binding and CD150-mediated costimulation". Blood. 99 (3): 957–65. doi:10.1182/blood.v99.3.957. PMID 11806999.

Further reading

Ex

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