InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MS4A1

Summary

InnateDB Protein

IDBP-49103.6

Last Modified

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

Gene Symbol

MS4A1

Protein Name

membrane-spanning 4-domains, subfamily A, member 1

Synonyms

B1; Bp35; CD20; CVID5; LEU-16; MS4A2; S7;

Species

Homo sapiens

Ensembl Protein

ENSP00000314620

InnateDB Gene

IDBG-49101 (MS4A1)

Protein Structure

UniProt Annotation

Function

This protein may be involved in the regulation of B-cell activation and proliferation.

Subcellular Localization

Cell membrane {ECO:0000269PubMed:22615937}; Multi-pass membrane protein {ECO:0000269PubMed:22615937}. Cell membrane {ECO:0000269PubMed:22615937}; Lipid-anchor {ECO:0000269PubMed:22615937}.

Disease Associations

Immunodeficiency, common variable, 5 (CVID5) [MIM:613495]: A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low. {ECO:0000269PubMed:20038800}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed on B-cells.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.

Experimentally validated
Total	15 [view]
Protein-Protein	12 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0023026	MHC class II protein complex binding

Biological Process

GO:0006959	humoral immune response
GO:0042100	B cell proliferation

Cellular Component

GO:0005615	extracellular space
GO:0005887	integral component of plasma membrane
GO:0016021	integral component of membrane
GO:0070062	extracellular vesicular exosome