Cytochrome c oxidase subunit I

COX1
Identifiers
AliasesCOX1, mitochondrially encoded cytochrome c oxidase I, COI, MTCO1, Main subunit of cytochrome c oxidase, CO I, cytochrome c oxidase subunit I
External IDsOMIM: 516030; MGI: 102504; HomoloGene: 5016; GeneCards: COX1; OMA:COX1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

NP_904330

Location (UCSC)Chr M: 0.01 – 0.01 MbChr M: 0.01 – 0.01 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse
Cytochrome c oxidase subunit I
Structure of the 13-subunit oxidized cytochrome c oxidase.[5]
Identifiers
SymbolCOX1 or COI
PfamPF00115
InterProIPR000883
PROSITEPDOC00074
SCOP21occ / SCOPe / SUPFAM
TCDB3.D.4
OPM superfamily4
OPM protein1v55
CDDcd01663
Available protein structures:
Pfam  structures / ECOD  
PDBRCSB PDB; PDBe; PDBj
PDBsumstructure summary
Location of the MT-CO1 gene in the human mitochondrial genome. MT-CO1 is one of the three cytochrome c oxidase subunit mitochondrial genes (orange boxes).

Cytochrome c oxidase I (COX1) also known as mitochondrially encoded cytochrome c oxidase I (MT-CO1) is a protein that is encoded by the MT-CO1 gene in eukaryotes.[6] The gene is also called COX1, CO1, or COI.[7] Cytochrome c oxidase I is the main subunit of the cytochrome c oxidase complex. In humans, mutations in MT-CO1 have been associated with Leber's hereditary optic neuropathy (LHON), acquired idiopathic sideroblastic anemia, Complex IV deficiency, colorectal cancer, sensorineural deafness, and recurrent myoglobinuria.[8][9][10]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000198804Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000064351Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Tsukihara T, Aoyama H, Yamashita E, Tomizaki T, Yamaguchi H, Shinzawa-Itoh K, et al. (May 1996). "The whole structure of the 13-subunit oxidized cytochrome c oxidase at 2.8 A". Science. 272 (5265): 1136–1144. Bibcode:1996Sci...272.1136T. doi:10.1126/science.272.5265.1136. PMID 8638158. S2CID 20860573.
  6. ^ "Entrez Gene: Cytochrome c oxidase subunit I".
  7. ^ Kosakyan A, Heger TJ, Leander BS, Todorov M, Mitchell EA, Lara E (May 2012). "COI barcoding of Nebelid testate amoebae (Amoebozoa: Arcellinida): extensive cryptic diversity and redefinition of the Hyalospheniidae Schultze" (PDF). Protist. 163 (3): 415–434. doi:10.1016/j.protis.2011.10.003. PMID 22130576.
  8. ^ Cite error: The named reference :1 was invoked but never defined (see the help page).
  9. ^ Cite error: The named reference :0 was invoked but never defined (see the help page).
  10. ^ Cite error: The named reference :3 was invoked but never defined (see the help page).