Version 5.4
Homo sapiens Protein: COA5
Summary
InnateDB Protein IDBP-63006.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COA5
Protein Name cytochrome C oxidase assembly factor 5
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000330730
InnateDB Gene IDBG-63004 (COA5)
Protein Structure
UniProt Annotation
Function Involved in an early step of the mitochondrial complex IV assembly process. {ECO:0000269PubMed:21457908}.
Subcellular Localization
Disease Associations Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]: A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome. {ECO:0000269PubMed:21457908}. 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 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
Cellular Component
GO:0005739 mitochondrion
Protein Structure and Domains
PDB ID
InterPro IPR018793 Cytochrome c oxidase assembly protein PET191
PFAM PF10203
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q86WW8
PhosphoSite PhosphoSite-Q86WW8
TrEMBL
UniProt Splice Variant
Entrez Gene 493753
UniGene Hs.630819
RefSeq NP_001008216
HUGO HGNC:33848
OMIM 613920
CCDS CCDS33257
HPRD 17563
IMGT
EMBL AC010134 BC047722 CH471127
GenPept AAH47722 AAX93231 EAX01903

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca