InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SH2D1A

Summary

InnateDB Protein

IDBP-85370.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SH2D1A

Protein Name

SH2 domain containing 1A

Synonyms

DSHP; EBVS; IMD5; LYP; MTCP1; SAP; SAP/SH2D1A; XLP; XLPD; XLPD1;

Species

Homo sapiens

Ensembl Protein

ENSP00000360181

InnateDB Gene

IDBG-85368 (SH2D1A)

Protein Structure

UniProt Annotation

Function

Inhibitor of the SLAM self-association. Acts by blocking recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to a docking site in the SLAM cytoplasmic region. Mediates interaction between FYN and SLAMF1. May also regulate the activity of the neurotrophin receptors NTRK1, NTRK2 and NTRK3.

Subcellular Localization

Cytoplasm {ECO:0000305}.

Disease Associations

Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240]: A rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus (EBV). Symptoms include severe or fatal mononucleosis, acquired hypogammaglobulinemia, pancytopenia and malignant lymphoma. {ECO:0000269PubMed:10598819, ECO:0000269PubMed:11034354, ECO:0000269PubMed:11049992, ECO:0000269PubMed:11493483, ECO:0000269PubMed:15841490, ECO:0000269PubMed:16720617, ECO:0000269PubMed:9771704}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed at a high level in thymus and lung, with a lower level of expression in spleen and liver. Expressed in peripheral blood leukocytes, including T-lymphocytes. Tends to be expressed at lower levels in peripheral blood leukocytes in patients with rheumatoid arthritis. {ECO:0000269PubMed:11282995}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 43 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	43 [view]
Protein-Protein	43 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005070	SH3/SH2 adaptor activity
GO:0005515	protein binding

Biological Process

GO:0006959	humoral immune response
GO:0006968	cellular defense response
GO:0007267	cell-cell signaling
GO:0009967	positive regulation of signal transduction
GO:0045087	innate immune response (InnateDB)
GO:0045954	positive regulation of natural killer cell mediated cytotoxicity