SH2D1A

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]

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)[1] Band Xq25 Start 124,227,868 bp[1] End 124,373,197 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X|X A4 Start 41,591,330 bp[2] End 41,618,207 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse 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 Mb Chr X: 41.59 – 41.62 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Interactions

SH2D1A has been shown to interact with:

• CD84,^{[10][11][12][13]}
• DOK1,^[14]
• FYN,^[15][16]
• LY9^[11][13] and
• SLAMF1.^[13][17]