Protein-coding gene in the species Homo sapiens
SH2D1A |
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Identifiers |
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Aliases | SH2D1A, DSHP, EBVS, IMD5, LYP, MTCP1, SAP, SAP/XLP, XLPD, XLPD1, SH2 domain containing 1A |
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External IDs | OMIM: 300490 MGI: 1328352 HomoloGene: 1762 GeneCards: SH2D1A |
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Wikidata |
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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: