Family

SH2 protein 1A (IPR017289)

Short name: SH2_prot_1A

Family relationships

None.

Description

This entry represents SH2 domain-containing protein 1A (SH2D1A). SH2D1A is an adaptor protein that appears to regulate B-cell differentiation via switching of SLAM (CD150)-mediated signalling pathways [PMID: 15315965]. The SLAM receptor is expressed on activated T and B lymphocytes. SH2D1A inhibits SLAM self-association. SH2D1A acts by blocking the recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to a docking site in the SLAM cytoplasmic region [PMID: 11313386].

Defects in SH2D1A are a cause of lymphoproliferative syndrome X-linked type 1 (XLP1) (OMIM:308240), which is also known as X-linked lymphoproliferative disease (XLPD) or Duncan disease [PMID: 11213803]. XLP is a rare immunodeficiency characterised by extreme susceptibility to infection with Epstein-Barr virus (EBV) (HHV-4) (Human herpesvirus 4). Symptoms include severe or fatal mononucleosis, acquired hypogammaglobulinemia, pancytopenia and malignant lymphoma.

GO terms

Biological Process

GO:0007267 cell-cell signaling
GO:0006968 cellular defense response

Molecular Function

GO:0005070 SH3/SH2 adaptor activity

Cellular Component

GO:0005737 cytoplasm

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PIRSF