Homo sapiens Gene: CD59 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Gene | IDBG-38813.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | CD59 | ||||||||||||||||||
Gene 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 Gene | ENSG00000085063 | ||||||||||||||||||
Encoded Proteins |
CD59 molecule, complement regulatory protein
CD59 molecule, complement regulatory protein
CD59 molecule, complement regulatory protein
CD59 molecule, complement regulatory protein
CD59 molecule, complement regulatory protein
CD59 molecule, complement regulatory protein
CD59 molecule, complement regulatory protein
CD59 molecule, complement regulatory protein
CD59 molecule, complement regulatory protein
CD59 molecule, complement regulatory protein
CD59 molecule, complement regulatory protein
CD59 molecule, complement regulatory protein
CD59 molecule, complement regulatory protein
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Protein Structure |
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Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
Entrez Gene | |||||||||||||||||||
Summary |
This gene encodes a cell surface glycoprotein that regulates complement-mediated cell lysis, and it is involved in lymphocyte signal transduction. This protein is a potent inhibitor of the complement membrane attack complex, whereby it binds complement C8 and/or C9 during the assembly of this complex, thereby inhibiting the incorporation of multiple copies of C9 into the complex, which is necessary for osmolytic pore formation. This protein also plays a role in signal transduction pathways in the activation of T cells. Mutations in this gene cause CD59 deficiency, a disease resulting in hemolytic anemia and thrombosis, and which causes cerebral infarction. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008] |
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Gene Information | |||||||||||||||||||
Type | Protein coding | ||||||||||||||||||
Genomic Location | Chromosome 11:33698261-33736445 | ||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||
Band | p13 | ||||||||||||||||||
Transcripts | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||
No orthologs found for this gene | |||||||||||||||||||
Pathways | |||||||||||||||||||
NETPATH |
EGFR1 pathway
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REACTOME |
Regulation of Complement cascade pathway
Innate Immune System pathway
Immune System pathway
Complement cascade pathway
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KEGG |
Hematopoietic cell lineage pathway
Complement and coagulation cascades pathway
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INOH | |||||||||||||||||||
PID NCI | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | P13987 | ||||||||||||||||||
TrEMBL | Q6FHM9 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 966 | ||||||||||||||||||
UniGene | Hs.278573 Hs.610292 Hs.731705 | ||||||||||||||||||
RefSeq | NM_000611 NM_001127223 NM_001127225 NM_001127226 NM_001127227 NM_203329 NM_203330 NM_203331 | ||||||||||||||||||
HUGO | HGNC:1689 | ||||||||||||||||||
OMIM | 107271 | ||||||||||||||||||
CCDS | CCDS7886 | ||||||||||||||||||
HPRD | 00117 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AK311778 BC001506 BT007104 CH471064 CR407661 CR541722 M27909 M34671 M84345 M84346 M84348 M84349 M95708 X16447 X17198 Z14113 Z14114 Z14115 | ||||||||||||||||||
GenPept | AAA51952 AAA60543 AAA60957 AAA88793 AAH01506 AAP35768 BAG34721 CAA34467 CAA35059 CAA78486 CAG28589 CAG46523 EAW68193 | ||||||||||||||||||
RNA Seq Atlas | 966 | ||||||||||||||||||