Homo sapiens Gene: COX6A1
Summary
InnateDB Gene IDBG-60537.5
Last Modified 2012-02-14 [Report errors or provide feedback]
Gene Symbol COX6A1
Gene Name cytochrome c oxidase subunit VIa polypeptide 1
Synonyms COX6A; COX6AL;
Species Homo sapiens
Ensembl Gene ENSG00000111775
Encoded Proteins
cytochrome c oxidase subunit VIa polypeptide 1
Protein Structure
Entrez Gene
Summary Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in the electron transfer and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (liver isoform) of subunit VIa, and polypeptide 1 is found in all non-muscle tissues. Polypeptide 2 (heart/muscle isoform) of subunit VIa is encoded by a different gene, and is present only in striated muscles. These two polypeptides share 66% amino acid sequence identity. It has been reported that there may be several pseudogenes on chromosomes 1, 6, 7q21, 7q31-32 and 12. However, only one pseudogene (COX6A1P) on chromosome 1p31.1 has been documented. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:120875893-120878545
Strand Forward strand
Band q24.31
Transcripts
ENST00000229379 ENSP00000229379
ENST00000550009
ENST00000549525
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004129 cytochrome-c oxidase activity
Biological Process
GO:0006091 generation of precursor metabolites and energy
GO:0022904 respiratory electron transport chain
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005743 mitochondrial inner membrane
GO:0005751 mitochondrial respiratory chain complex IV
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Respiratory electron transport pathway
KEGG
Alzheimer`s disease pathway
Oxidative phosphorylation pathway
Huntington`s disease pathway
Cardiac muscle contraction pathway
Metabolic pathways pathway
Parkinson`s disease pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt P12074
TrEMBL H6SG15 Q9UEG9
UniProt Splice Variant
Entrez Gene 1337
UniGene Hs.369624
RefSeq NM_004373
HUGO 2277
OMIM 602072
CCDS CCDS9197
HPRD 03644
IMGT
EMBL AK312009 AL021546 BC007723 BC070186 BC107861 HE647860 U83701 U83702 X15341
GenPept AAD00554 AAH07723 AAH70186 AAI07862 BAG34947 CAA16494 CAA33392 CCF23108
ImmGen COX6A1 (murine)
RNA Seq Atlas 1337