UniProt functional annotation for P20023



	UniProt functional annotation for P20023

UniProt code: P20023.

Organism: Homo sapiens (Human).

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

Function: Receptor for complement C3, for the Epstein-Barr virus on human B-cells and T-cells and for HNRNPU (PubMed:7753047). Participates in B lymphocytes activation (PubMed:7753047). {ECO:0000269|PubMed:7753047}.

Function: (Microbial infection) Acts as a receptor for Epstein-Barr virus. {ECO:0000269|PubMed:2460635}.

Subunit: Interacts (via Sushi domain 1 and 2) with C3 (PubMed:11387479, PubMed:21527715). Interacts with CD19 (PubMed:1702139). Part of a complex composed of CD19, CR2/CD21, CD81 and IFITM1/CD225 in the membrane of mature B-cells (PubMed:1383329). {ECO:0000269|PubMed:11387479, ECO:0000269|PubMed:1383329, ECO:0000269|PubMed:1702139, ECO:0000269|PubMed:21527715}.

Subunit: (Microbial infection) Interacts with Epstein-Barr virus gp350 protein. {ECO:0000269|PubMed:2460635}.

Subcellular location: Cell membrane {ECO:0000269|PubMed:1383329, ECO:0000269|PubMed:1702139}; Single-pass type I membrane protein.

Tissue specificity: Mature B-lymphocytes, T-lymphocytes, pharyngeal epithelial cells, astrocytes and follicular dendritic cells of the spleen.

Disease: Systemic lupus erythematosus 9 (SLEB9) [MIM:610927]: A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. {ECO:0000269|PubMed:17360460}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

Disease: Immunodeficiency, common variable, 7 (CVID7) [MIM:614699]: 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:22035880}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the receptors of complement activation (RCA) family. {ECO:0000305}.

Sequence caution: Sequence=AAA35784.1; Type=Frameshift; Evidence={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:		Receptor for complement C3, for the Epstein-Barr virus on human B-cells and T-cells and for HNRNPU (PubMed:7753047). Participates in B lymphocytes activation (PubMed:7753047). {ECO:0000269\|PubMed:7753047}.



Function:		(Microbial infection) Acts as a receptor for Epstein-Barr virus. {ECO:0000269\|PubMed:2460635}.


Subunit:		Interacts (via Sushi domain 1 and 2) with C3 (PubMed:11387479, PubMed:21527715). Interacts with CD19 (PubMed:1702139). Part of a complex composed of CD19, CR2/CD21, CD81 and IFITM1/CD225 in the membrane of mature B-cells (PubMed:1383329). {ECO:0000269\|PubMed:11387479, ECO:0000269\|PubMed:1383329, ECO:0000269\|PubMed:1702139, ECO:0000269\|PubMed:21527715}.
Subunit:		(Microbial infection) Interacts with Epstein-Barr virus gp350 protein. {ECO:0000269\|PubMed:2460635}.
Subcellular location:		Cell membrane {ECO:0000269\|PubMed:1383329, ECO:0000269\|PubMed:1702139}; Single-pass type I membrane protein.
Tissue specificity:		Mature B-lymphocytes, T-lymphocytes, pharyngeal epithelial cells, astrocytes and follicular dendritic cells of the spleen.
Disease:		Systemic lupus erythematosus 9 (SLEB9) [MIM:610927]: A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. {ECO:0000269\|PubMed:17360460}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
Disease:		Immunodeficiency, common variable, 7 (CVID7) [MIM:614699]: 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:22035880}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the receptors of complement activation (RCA) family. {ECO:0000305}.
Sequence caution:		Sequence=AAA35784.1; Type=Frameshift; Evidence={ECO:0000305};