Version 5.4
Homo sapiens Protein: COQ6
Summary
InnateDB Protein IDBP-11768.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COQ6
Protein Name coenzyme Q6 homolog, monooxygenase (S. cerevisiae)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000333946
InnateDB Gene IDBG-11764 (COQ6)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Golgi apparatus. Cell projection {ECO:0000250}. Note=Localizes to podocyte cell processes. {ECO:0000250}.
Disease Associations Coenzyme Q10 deficiency, primary, 6 (COQ10D6) [MIM:614650]: An autosomal recessive disorder characterized by onset in infancy of severe progressive nephrotic syndrome resulting in end-stage renal failure and sensorineural deafness. Renal biopsy usually shows focal segmental glomerulosclerosis. {ECO:0000269PubMed:21540551}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Widely epressed. {ECO:0000269PubMed:21540551}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 7 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004497 monooxygenase activity
GO:0016709 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen
GO:0050660 flavin adenine dinucleotide binding
Biological Process
GO:0006744 ubiquinone biosynthetic process
GO:0044281 small molecule metabolic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005739 mitochondrion
GO:0005794 Golgi apparatus
GO:0042995 cell projection
Protein Structure and Domains
PDB ID
InterPro IPR000689 Ubiquinone biosynthesis monooxygenase, COQ6-type
IPR002938 Monooxygenase, FAD-binding
IPR003042 Aromatic-ring hydroxylase-like
IPR010971 Ubiquinone biosynthesis hydroxylase, UbiH/UbiF/UbiI/COQ6
PFAM PF01494
PRINTS PR00420
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9Y2Z9
PhosphoSite PhosphoSite-Q9Y2Z9
TrEMBL
UniProt Splice Variant
Entrez Gene 51004
UniGene Hs.669116
RefSeq NP_872282
HUGO HGNC:20233
OMIM 614647
CCDS CCDS9823
HPRD 16742
IMGT
EMBL AC005480 AF132944 AK222965 AK296040 BC014181 BC014483 BX248000 CH471061
GenPept AAD27719 AAH14181 AAH14483 BAD96685 BAH12244 CAD62332 EAW81148

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