InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CD59

Summary

InnateDB Protein

IDBP-603214.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CD59

Protein Name

CD59 molecule, complement regulatory protein

Synonyms

16.3A5; 1F5; EJ16; EJ30; EL32; G344; HRF-20; HRF20; MAC-IP; MACIF; MEM43; MIC11; MIN1; MIN2; MIN3; MIRL; MSK21; p18-20;

Species

Homo sapiens

Ensembl Protein

ENSP00000435179

InnateDB Gene

IDBG-38813 (CD59)

Protein Structure

UniProt Annotation

Function

Potent inhibitor of the complement membrane attack complex (MAC) action. Acts by binding to the C8 and/or C9 complements of the assembling MAC, thereby preventing incorporation of the multiple copies of C9 required for complete formation of the osmolytic pore. This inhibitor appears to be species-specific. Involved in signal transduction for T-cell activation complexed to a protein tyrosine kinase.The soluble form from urine retains its specific complement binding activity, but exhibits greatly reduced ability to inhibit MAC assembly on cell membranes.

Subcellular Localization

Cell membrane; Lipid-anchor, GPI-anchor. Secreted. Note=Soluble form found in a number of tissues.

Disease Associations

Hemolytic anemia, CD59-mediated, with or without polyneuropathy (HACD59) [MIM:612300]: An autosomal recessive disorder characterized by infantile onset of chronic hemolysis and a relapsing-remitting polyneuropathy, often exacerbated by infection, and manifested as hypotonia, limb muscle weakness, and hyporeflexia. {ECO:0000269PubMed:1382994, ECO:0000269PubMed:23149847}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.

Experimentally validated
Total	14 [view]
Protein-Protein	14 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001848	complement binding
GO:0005515	protein binding

Biological Process

GO:0001775	cell activation
GO:0007166	cell surface receptor signaling pathway
GO:0007596	blood coagulation
GO:0030449	regulation of complement activation
GO:0045087	innate immune response

Cellular Component

GO:0005576	extracellular region
GO:0005615	extracellular space
GO:0005886	plasma membrane
GO:0009986	cell surface
GO:0016020	membrane
GO:0031362	anchored component of external side of plasma membrane
GO:0070062	extracellular vesicular exosome