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
IDBP-60539 cytochrome c oxidase subunit VIa polypeptide 1
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
Accession GO Term
Molecular Function
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
ENSMUSG00000041697 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000012788 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
REACT_22393 Respiratory electron transport
KEGG
hsa05010  Alzheimer`s disease
hsa04260  Cardiac muscle contraction
hsa05016  Huntington`s disease
hsa01100  Metabolic pathways
hsa00190  Oxidative phosphorylation
hsa05012  Parkinson`s disease
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