InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: SH2D1A

Summary

InnateDB Gene

IDBG-85368.6

Last Modified

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

Gene Symbol

SH2D1A

Gene Name

SH2 domain containing 1A

Synonyms

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

Species

Homo sapiens

Ensembl Gene

ENSG00000183918

Encoded Proteins

IDBP-85370

SH2 domain containing 1A

IDBP-85372

SH2 domain containing 1A

IDBP-809031

SH2 domain containing 1A

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

InnateDB Annotation

Summary

PMID 18501771

The SLAM and SAP gene families control innate and adaptive immune responses

PMID 19079134

SLAM receptors and SAP influence lymphocyte interactions, development and function

Entrez Gene

Summary

This gene encodes a protein that plays a major role in the bidirectional stimulation of T and B cells. This protein contains an SH2 domain and a short tail. It associates with the signaling lymphocyte-activation molecule, thereby acting as an inhibitor of this transmembrane protein by blocking the recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to its docking site. This protein can also bind to other related surface molecules that are expressed on activated T, B and NK cells, thereby modifying signal transduction pathways in these cells. Mutations in this gene cause lymphoproliferative syndrome X-linked type 1 or Duncan disease, a rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus, with symptoms including severe mononucleosis and malignant lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome X:124346344-124373155

Strand

Forward strand

Band

q25

Transcripts

ENST00000371139	ENSP00000360181
ENST00000360027	ENSP00000353126
ENST00000491950
ENST00000494073
ENST00000477673	ENSP00000477094

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

Cellular Component

GO:0005737

cytoplasm

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000005696

View Gene Order

ENSBTAG00000026067

Not yet available

Pathways

NETPATH

REACTOME

KEGG

hsa04650

Natural killer cell mediated cytotoxicity pathway

INOH

PID NCI

p53downstreampathway

Direct p53 effectors

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.349094 Hs.603593

RefSeq

NM_001114937 NM_002351

HUGO

OMIM

CCDS

CCDS14608 CCDS48162

HPRD

02390

IMGT

EMBL

GenPept

RNA Seq Atlas