SH2D1A

Source: Wikipedia, the free encyclopedia.
SH2D1A
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Ensembl
UniProt
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 MbChr X: 41.59 – 41.62 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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]

Interactions

SH2D1A has been shown to

interact
with:

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000183918Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000005696Ensembl, 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.
  5. S2CID 9347438
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  7. ^ "Entrez Gene: SH2D1A SH2 domain protein 1A, Duncan's disease (lymphoproliferative syndrome)".
  8. PMID 24373350
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Further reading

Ex

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