Version 5.4
Homo sapiens Protein: MS4A1
Summary
InnateDB Protein IDBP-603916.3
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 ENSP00000433179
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:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P11836
PhosphoSite PhosphoSite-P11836
TrEMBL
UniProt Splice Variant
Entrez Gene 931
UniGene Hs.712553
RefSeq
HUGO HGNC:7315
OMIM 112210
CCDS
HPRD 00204
IMGT
EMBL AP003127 BC002807 CH471076 L23415 L23416 L23417 L23419 M27394 M27395 X07203 X07204 X12530
GenPept AAA35581 AAA88911 AAH02807 CAA30179 CAA30180 CAA31046 EAW73889

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca