Homo sapiens Gene: CD59
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
Protein Structure
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:33698261-33736445
Strand Reverse strand
Band p13
Transcripts
ENST00000351554 ENSP00000340210
ENST00000395850 ENSP00000379191
ENST00000426650 ENSP00000402425
ENST00000415002 ENSP00000404822
ENST00000437761 ENSP00000410182
ENST00000445143 ENSP00000403511
ENST00000534312 ENSP00000432362
ENST00000527926 ENSP00000437122
ENST00000525763 ENSP00000435179
ENST00000533181 ENSP00000436497
ENST00000533403 ENSP00000436737
ENST00000528987
ENST00000527577 ENSP00000432942
ENST00000528700 ENSP00000434617
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:0001971 negative regulation of activation of membrane attack complex
GO:0007166 cell surface receptor signaling pathway
GO:0007596 blood coagulation
GO:0030449 regulation of complement activation
GO:0042102 positive regulation of T cell proliferation
GO:0043066 negative regulation of apoptotic process
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:0042383 sarcolemma
GO:0043218 compact myelin
GO:0070062 extracellular vesicular exosome
Orthologs
No orthologs found for this gene
Pathways
NETPATH
EGFR1 pathway
REACTOME
Regulation of Complement cascade pathway
Innate Immune System pathway
Immune System pathway
Complement cascade pathway
KEGG
Hematopoietic cell lineage pathway
Complement and coagulation cascades pathway
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