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MT000131

Record overview

MITO IDMT000131
Gene ID1337
SpeciesHomo sapiens (Human)
Gene Namecytochrome c oxidase subunit VIa polypeptide 1
Gene SymbolCOX6A1
SynonymsCOX6A; CMTRID; COX6AL;
Alternate namescytochrome c oxidase subunit 6A1, mitochondrial; COX VIa-L; cytochrome c oxidase subunit VIA-liver; cytochrome C oxidase subunit VIa homolog; cytochrome c oxidase polypeptide VIa-liver;
Chromosome12
Map Location12q24.2
SummaryCytochrome 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]
OrthologsView orthologs and multiple alignments for COX6A1

Proteins

cytochrome c oxidase subunit 6A1, mitochondrial
Refseq ID:NP_004364
Protein GI:17999528
UniProt ID:P12074
mRNA ID:NM_004373
Length:109
RefSeq Status:
MAVVGVSSVSRLLGRSRPQLGRPMSSGAHGEEGSARMWKTLTFFVALPGVAVSMLNVYLKSHHGEHERPEFIAYPHLRIRTKPFPWGDGNHTLFHNPHVN
PLPTGYEDE
 
N
transit_peptide: 1..24
experiment: experimental evidence, no additional details recorded
note: Mitochondrion. {ECO:0000269|PubMed:1286669}; propagated from UniProtKB/Swiss-Prot (P12074.4)
calculated_mol_wt: 2554
peptide sequence: 
MAVVGVSSVSRLLGRSRPQLGRPM

mat_peptide: 25..109
product: Cytochrome c oxidase subunit 6A1, mitochondrial
experiment: experimental evidence, no additional details recorded
note: propagated from UniProtKB/Swiss-Prot (P12074.4)
calculated_mol_wt: 9619
peptide sequence: 
SSGAHGEEGSARMWKTLTFFVALPGVAVSMLNVYLKSHHGEHERPEFIAYPHLRIRTKPFPWGDGNHTLFHNPHVNPLPTGYEDE