Version 5.4
Homo sapiens Protein: COQ9
Summary
InnateDB Protein IDBP-33277.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COQ9
Protein Name coenzyme Q9 homolog (S. cerevisiae)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000262507
InnateDB Gene IDBG-33273 (COQ9)
Protein Structure
UniProt Annotation
Function Involved in the biosynthesis of coenzyme Q. {ECO:0000250}.
Subcellular Localization Mitochondrion {ECO:0000250}.
Disease Associations Coenzyme Q10 deficiency, primary, 5 (COQ10D5) [MIM:614654]: A form of coenzyme Q10 deficiency, an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form. {ECO:0000269PubMed:19375058}. 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 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
Biological Process
GO:0006120 mitochondrial electron transport, NADH to ubiquinone
GO:0006744 ubiquinone biosynthetic process
Cellular Component
GO:0005739 mitochondrion
Protein Structure and Domains
PDB ID
InterPro IPR009057 Homeodomain-like
IPR012762 Ubiquinone biosynthesis protein COQ9
IPR013718 COQ9
PFAM PF08511
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt O75208
PhosphoSite PhosphoSite-O75208
TrEMBL H3BPY0
UniProt Splice Variant
Entrez Gene 57017
UniGene Hs.513632
RefSeq NP_064708
HUGO HGNC:25302
OMIM 612837
CCDS CCDS32459
HPRD 13157
IMGT
EMBL AC004382 AC009052 AF161444 AK075438 AK290627 AK293585 AL136884 BC001478 BC054340 BC064946 CH471092
GenPept AAC24313 AAF29004 AAH01478 AAH54340 AAH64946 BAC11621 BAF83316 BAG57054 CAB66818 EAW82928 EAW82931

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