CD53

Leukocyte surface antigen CD53 is a protein that in humans is encoded by the CD53 gene.^[5][6]

AliasesCD53, MOX44, TSPAN25, CD53 molecule

External IDsOMIM: 151525; MGI: 88341; GeneCards: CD53

Chr.Chromosome 1 (human)^[1]

End110,899,922 bp^[1]

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CD53
Identifiers
Aliases	CD53, MOX44, TSPAN25, CD53 molecule
External IDs	OMIM: 151525; MGI: 88341; GeneCards: CD53
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p13.3 Start 110,871,188 bp[1] End 110,899,922 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3 F2.3|3 46.53 cM Start 106,667,237 bp[2] End 106,697,465 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in blood granulocyte mononuclear cell monocyte spleen appendix lymph node bone marrow bone marrow cell epithelium of nasopharynx Top expressed in granulocyte mesenteric lymph nodes spleen stroma of bone marrow tibiofemoral joint blood right lung lobe thymus calvaria subcutaneous adipose tissue More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding Cellular component integral component of membrane cell surface cell junction plasma membrane integral component of plasma membrane extracellular exosome membrane cell-cell junction immunological synapse specific granule membrane tertiary granule membrane Biological process positive regulation of myoblast fusion cell surface receptor signaling pathway signal transduction neutrophil degranulation Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 963 12508 Ensembl ENSG00000143119 ENSMUSG00000040747 UniProt P19397 Q61451 RefSeq (mRNA) NM_000560 NM_001040033 NM_001320638 NM_007651 RefSeq (protein) NP_000551 NP_001035122 NP_001307567 NP_031677 Location (UCSC) Chr 1: 110.87 – 110.9 Mb Chr 3: 106.67 – 106.7 Mb PubMed search [3] [4]
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The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. It contributes to the transduction of CD2-generated signals in T cells and natural killer cells and has been suggested to play a role in growth regulation. Familial deficiency of this gene has been linked to an immunodeficiency associated with recurrent infectious diseases caused by bacteria, fungi and viruses. Alternative splicing results in multiple transcript variants encoding the same protein.^[6]