UniProt functional annotation for P11836



	UniProt functional annotation for P11836

UniProt code: P11836.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: B-lymphocyte-specific membrane protein that plays a role in the regulation of cellular calcium influx necessary for the development, differentiation, and activation of B-lymphocytes (PubMed:3925015, PubMed:7684739, PubMed:12920111). Functions as a store-operated calcium (SOC) channel component promoting calcium influx after activation by the B-cell receptor/BCR (PubMed:7684739, PubMed:12920111, PubMed:18474602). {ECO:0000269|PubMed:12920111, ECO:0000269|PubMed:18474602, ECO:0000269|PubMed:3925015, ECO:0000269|PubMed:7684739}.

Subunit: Forms homotetramers (PubMed:7684739, PubMed:18474602). Interacts with the heavy and light chains of cell surface IgM, the antigen-binding components of the BCR (PubMed:18474602). {ECO:0000269|PubMed:18474602, ECO:0000269|PubMed:7684739}.

Subcellular location: Cell membrane {ECO:0000269|PubMed:12920111, ECO:0000269|PubMed:22615937}; Multi-pass membrane protein {ECO:0000269|PubMed:22615937}. Cell membrane {ECO:0000269|PubMed:22615937}; Lipid-anchor {ECO:0000269|PubMed:22615937}. Note=Constitutively associated with membrane rafts. {ECO:0000269|PubMed:12920111}.

Tissue specificity: Expressed on B-cells.

Ptm: Phosphorylated on serines and threonines in resting B-cells. Protein kinase C/PKC can use CD20 as substrate. {ECO:0000269|PubMed:2472394}.

Disease: 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:0000269|PubMed:20038800}. Note=The disease is caused by variants affecting the gene represented in this entry.

Pharmaceutical: Monoclonal antibodies (mAb) against CD20 are used to treat B-cell non-Hodgkin lymphoma (NHL). These antibodies include Rituximab (Mabthera), Britumomab (Zevalin) and Tositumomab (Bexxar). CD20 engaged by mAb can generate transmembrane signals capable of directly controlling cell growth and triggering cell death in certain tumors. Alternatively, mAb can mediate complement-dependent cytotoxicity.

Similarity: Belongs to the MS4A family. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		B-lymphocyte-specific membrane protein that plays a role in the regulation of cellular calcium influx necessary for the development, differentiation, and activation of B-lymphocytes (PubMed:3925015, PubMed:7684739, PubMed:12920111). Functions as a store-operated calcium (SOC) channel component promoting calcium influx after activation by the B-cell receptor/BCR (PubMed:7684739, PubMed:12920111, PubMed:18474602). {ECO:0000269\|PubMed:12920111, ECO:0000269\|PubMed:18474602, ECO:0000269\|PubMed:3925015, ECO:0000269\|PubMed:7684739}.


Subunit:		Forms homotetramers (PubMed:7684739, PubMed:18474602). Interacts with the heavy and light chains of cell surface IgM, the antigen-binding components of the BCR (PubMed:18474602). {ECO:0000269\|PubMed:18474602, ECO:0000269\|PubMed:7684739}.
Subcellular location:		Cell membrane {ECO:0000269\|PubMed:12920111, ECO:0000269\|PubMed:22615937}; Multi-pass membrane protein {ECO:0000269\|PubMed:22615937}. Cell membrane {ECO:0000269\|PubMed:22615937}; Lipid-anchor {ECO:0000269\|PubMed:22615937}. Note=Constitutively associated with membrane rafts. {ECO:0000269\|PubMed:12920111}.
Tissue specificity:		Expressed on B-cells.
Ptm:		Phosphorylated on serines and threonines in resting B-cells. Protein kinase C/PKC can use CD20 as substrate. {ECO:0000269\|PubMed:2472394}.
Disease:		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:0000269\|PubMed:20038800}. Note=The disease is caused by variants affecting the gene represented in this entry.
Pharmaceutical:		Monoclonal antibodies (mAb) against CD20 are used to treat B-cell non-Hodgkin lymphoma (NHL). These antibodies include Rituximab (Mabthera), Britumomab (Zevalin) and Tositumomab (Bexxar). CD20 engaged by mAb can generate transmembrane signals capable of directly controlling cell growth and triggering cell death in certain tumors. Alternatively, mAb can mediate complement-dependent cytotoxicity.
Similarity:		Belongs to the MS4A family. {ECO:0000305}.