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 cell;
	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]