cytochrome c oxidase subunit 1; cytochrome c oxidase polypeptide I (MT-CO1 COI COXI MTCO1)

Function

• subunit of cytochrome c oxidase, the component of the respiratory chain that catalyzes the reduction of oxygen to water
• subunits 1-3 form the functional core of the enzyme complex.
• MT-CO1 is the catalytic subunit of the enzyme
• electrons originating in cytochrome c are transferred via the copper A center of subunit 2 & heme A of subunit 1 to the bimetallic center formed by heme A3 & copper B
• energy metabolism; oxidative phosphorylation

4 ferrocytochrome c + O2 + 4 H+ = 4 ferricytochrome c + 2 H2O

Structure

• belongs to the heme-copper respiratory oxidase family

Compartment

• mitochondrial inner membrane; multi-pass membrane protein

Pathology

• defects in MT-CO1 are a cause of
  • Leber hereditary optic neuropathy (LHON)
  • acquired idiopathic sideroblastic anemia
  • cytochrome c oxidase deficiency
  • recurrent myoglobinuria mitochondrial
  • mitochondrial sensorineural deafness
  • colorectal cancer (CRC)

Laboratory

• MT-CO1 gene mutation

More general terms

• transmembrane 12 protein
• enzyme catalytic subunit
• cytochrome c oxidase subunit
• mitochondrial membrane protein

Component of

• cytochrome c oxidase (complex IV)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4512
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:4512
• OMIM: https://mirror.omim.org/entry/114500
• OMIM: https://mirror.omim.org/entry/220110
• OMIM: https://mirror.omim.org/entry/500008
• OMIM: https://mirror.omim.org/entry/516030
• OMIM: https://mirror.omim.org/entry/535000
• OMIM: https://mirror.omim.org/entry/550500
• UniProt: http://www.uniprot.org/uniprot/P00395.html