SH2D1A

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SH2 domain containing 1A
Protein SH2D1A PDB 1d1z.png
PDB rendering based on 1d1z.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols SH2D1A ; DSHP; EBVS; IMD5; LYP; MTCP1; SAP; SAP/SH2D1A; XLP; XLPD
External IDs OMIM300490 MGI1328352 HomoloGene1762 GeneCards: SH2D1A Gene
RNA expression pattern
PBB GE SH2D1A 210116 at tn.png
PBB GE SH2D1A 211209 x at tn.png
PBB GE SH2D1A 211210 x at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 4068 20400
Ensembl ENSG00000183918 ENSMUSG00000005696
UniProt O60880 O88890
RefSeq (mRNA) NM_001114937 NM_011364
RefSeq (protein) NP_001108409 NP_035494
Location (UCSC) Chr X:
123.48 – 123.51 Mb
Chr X:
42.5 – 42.52 Mb
PubMed search [1] [2]

SH2 domain-containing protein 1A is a protein that in humans is encoded by the SH2D1A gene.[1][2][3]

It is associated with X-linked lymphoproliferative disease.


Interactions[edit]

SH2D1A has been shown to interact with FYN,[4][5] SLAMF1,[6][7] CD84,[8][9][10][7] LY9[7][9] and DOK1.[11]

References[edit]

  1. ^ 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 (October 1998). "Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene". Nat Genet 20 (2): 129–135. doi:10.1038/2424. PMID 9771704. 
  2. ^ 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 (November 1998). "The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM". Nature 395 (6701): 462–469. doi:10.1038/26683. PMID 9774102. 
  3. ^ "Entrez Gene: SH2D1A SH2 domain protein 1A, Duncan's disease (lymphoproliferative syndrome)". 
  4. ^ Li, Chengjun; Iosef Cristiana, Jia Christina Y H, Han Victor K M, Li Shawn Shun-Cheng (February 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". J. Biol. Chem. (United States) 278 (6): 3852–3859. doi:10.1074/jbc.M206649200. ISSN 0021-9258. PMID 12458214. 
  5. ^ Chan, Betty; Lanyi Arpad, Song Hyun Kyu, Griesbach Jan, Simarro-Grande Maria, Poy Florence, Howie Duncan, Sumegi Janos, Terhorst Cox, Eck Michael J (February 2003). "SAP couples Fyn to SLAM immune receptors". Nat. Cell Biol. (England) 5 (2): 155–160. doi:10.1038/ncb920. ISSN 1465-7392. PMID 12545174. 
  6. ^ Howie, Duncan; Simarro María, Sayos Joan, Guirado Maria, Sancho Jaime, Terhorst Cox (February 2002). "Molecular dissection of the signaling and costimulatory functions of CD150 (SLAM): CD150/SAP binding and CD150-mediated costimulation". Blood (United States) 99 (3): 957–965. doi:10.1182/blood.V99.3.957. ISSN 0006-4971. PMID 11806999. 
  7. ^ a b c Morra, M; Simarro-Grande M, Martin M, Chen A S, Lanyi A, Silander O, Calpe S, Davis J, Pawson T, Eck M J, Sumegi J, Engel P, Li S C, Terhorst C (September 2001). "Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients". J. Biol. Chem. (United States) 276 (39): 36809–36816. doi:10.1074/jbc.M101305200. ISSN 0021-9258. PMID 11477068. 
  8. ^ Tangye, Stuart G; Nichols Kim E, Hare Nathan J, van de Weerdt Barbara C M (September 2003). "Functional requirements for interactions between CD84 and Src homology 2 domain-containing proteins and their contribution to human T cell activation". J. Immunol. (United States) 171 (5): 2485–95. doi:10.4049/jimmunol.171.5.2485. ISSN 0022-1767. PMID 12928397. 
  9. ^ a b Sayós, J; Martín M, Chen A, Simarro M, Howie D, Morra M, Engel P, Terhorst C (June 2001). "Cell surface receptors Ly-9 and CD84 recruit the X-linked lymphoproliferative disease gene product SAP". Blood (United States) 97 (12): 3867–3874. doi:10.1182/blood.V97.12.3867. ISSN 0006-4971. PMID 11389028. 
  10. ^ Tangye, Stuart G; van de Weerdt Barbara C M, Avery Danielle T, Hodgkin Philip D (June 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". Eur. J. Immunol. (Germany) 32 (6): 1640–9. doi:10.1002/1521-4141(200206)32:6<1640::AID-IMMU1640>3.0.CO;2-S. ISSN 0014-2980. PMID 12115647. 
  11. ^ Sylla, B S; Murphy K, Cahir-McFarland E, Lane W S, Mosialos G, Kieff E (June 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. (UNITED STATES) 97 (13): 7470–7475. doi:10.1073/pnas.130193097. ISSN 0027-8424. PMC 16569. PMID 10852966. 

External links[edit]

Further reading[edit]