InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Sh2d1a

Summary

InnateDB Gene

IDBG-141610.6

Last Modified

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

Gene Symbol

Sh2d1a

Gene Name

SH2 domain protein 1A

Synonyms

Gm686; SAP

Species

Mus musculus

Ensembl Gene

ENSMUSG00000005696

Encoded Proteins

IDBP-141612

SH2 domain protein 1A

IDBP-250441

SH2 domain protein 1A

IDBP-790239

SH2 domain protein 1A

IDBP-790237

SH2 domain protein 1A

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

InnateDB Annotation from Orthologs

Summary

PMID 18501771

[Homo sapiens] The SLAM and SAP gene families control innate and adaptive immune responses

PMID 19079134

[Homo sapiens] SLAM receptors and SAP influence lymphocyte interactions, development and function

Entrez Gene

Summary

This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000183918:
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:42502453-42529330

Strand

Forward strand

Band

Transcripts

ENSMUST00000005839	ENSMUSP00000005839
ENSMUST00000115070	ENSMUSP00000110722
ENSMUST00000129855
ENSMUST00000153948	ENSMUSP00000138624
ENSMUST00000128393
ENSMUST00000189753	ENSMUSP00000141070

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 23 interaction(s) predicted by orthology.

Experimentally validated
Total	7 [view]
Protein-Protein	7 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	23 [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:0045954	positive regulation of natural killer cell mediated cytotoxicity

Cellular Component

GO:0005737

cytoplasm

Orthologs

Species

Homo sapiens

Bos taurus

Gene ID

Gene Order

ENSG00000183918

View Gene Order

ENSBTAG00000026067

Not yet available

Pathways

NETPATH

REACTOME

KEGG

mmu04650

Natural killer cell mediated cytotoxicity pathway

INOH

PID NCI

Pathway Predictions based on Human Orthology Data

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

RefSeq

NM_011364

OMIM

CCDS

CCDS30099

HPRD

IMGT

MGI ID

MGI Symbol

EMBL

GenPept

RNA Seq Atlas