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MGP000474

UniProt Annotations

Entry Information
Gene NameCD81 molecule
Protein EntryCD81_HUMAN
UniProt IDP60033
SpeciesHuman
Comments
Comment typeDescription
DiseaseImmunodeficiency, common variable, 6 (CVID6) [MIM:613496]: 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:0000269|PubMed:20237408}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionMay play an important role in the regulation of lymphoma cell growth. Interacts with a 16-kDa Leu-13 protein to form a complex possibly involved in signal transduction. May act as the viral receptor for HCV.
InteractionP27958:- (xeno); NbExp=9; IntAct=EBI-712921, EBI-6904269;
PtmNot glycosylated. {ECO:0000305}.
SimilarityBelongs to the tetraspanin (TM4SF) family. {ECO:0000305}.
Subcellular LocationMembrane; Multi-pass membrane protein.
SubunitPlays a critical role in HCV attachment and/or cell entry by interacting with HCV E1/E2 glycoproteins heterodimer. Interacts directly with IGSF8. Interacts with CD53 and SCIMP. Interacts with IFITM1, IFITM2 and IFITM3. Part of a GPCR-tetraspanin complex consisting at least of GPR56, CD81, eventually CD9, and GNA11 in which CD81 is enhancing the association of GPR56 with GNA11. {ECO:0000269|PubMed:11504738, ECO:0000269|PubMed:12913001, ECO:0000269|PubMed:12970454, ECO:0000269|PubMed:15004227, ECO:0000269|PubMed:21930792, ECO:0000269|PubMed:2398277}.
Tissue SpecificityHematolymphoid, neuroectodermal and mesenchymal tumor cell lines.
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