SH2D1A

SH2D1A
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1D1Z, 1D4T, 1D4W, 1KA6, 1KA7, 1M27
Identifiers
Aliases	SH2D1A, DSHP, EBVS, IMD5, LYP, MTCP1, SAP, SAP/XLP, XLPD, XLPD1, SH2 domain containing 1A
External IDs	OMIM: 300490; MGI: 1328352; HomoloGene: 1762; GeneCards: SH2D1A; OMA:SH2D1A - orthologs
Gene location (Human)
Chr.	X chromosome (human)
End	124,373,197 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	41,618,207 bp
RNA expression pattern
	Top expressed in
	thymus; ; lymph node; ; granulocyte; ; blood; ; appendix; ; spleen; ; bone marrow; ; testicle; ; gallbladder; ; bone marrow cells;
	Top expressed in
	thymus; ; blood; ; neural layer of retina; ; spermatid; ; embryo; ; mesenteric lymph nodes; ; spleen; ; embryo; ; retinal pigment epithelium; ; granulocyte;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	protein binding;
Cellular component	cytoplasm; cytosol;
Biological process	cell-cell signaling; cellular defense response; innate immune response; humoral immune response; positive regulation of natural killer cell mediated cytotoxicity; adaptive immune response; immune system process; regulation of immune response; positive regulation of signal transduction;
	Sources:Amigo / QuickGO
Orthologs
	4068
	20400
	ENSG00000183918
	ENSMUSG00000005696
	O60880
	O88890
	NM_002351; NM_001114937
	NM_011364; NM_001313688; NM_001313689; NM_001313691
	NP_001108409; NP_002342
	NP_001300617; NP_001300618; NP_001300620; NP_035494
	Wikidata
View/Edit Human	View/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]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000183918 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000005696 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ "Entrez Gene: SH2D1A SH2 domain protein 1A, Duncan's disease (lymphoproliferative syndrome)".
^ 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.
^ 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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000183918 – Ensembl, May 2017

[refGRCm38Ensembl-2] 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.

[pmid9771704-5] 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.

[pmid9774102-6] 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.

[entrez-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.

[Šimčíková_2019_-_supplementary_table_S7-9] 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.

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