Cytochrome c oxidase subunit 1

Details

Name
Cytochrome c oxidase subunit 1
Synonyms
  • 1.9.3.1
  • COI
  • COXI
  • Cytochrome c oxidase polypeptide I
  • MTCO1
Gene Name
MT-CO1
Organism
Humans
Amino acid sequence
>lcl|BSEQ0010093|Cytochrome c oxidase subunit 1
MFADRWLFSTNHKDIGTLYLLFGAWAGVLGTALSLLIRAELGQPGNLLGNDHIYNVIVTA
HAFVMIFFMVMPIMIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSLLLLLASAMVEA
GAGTGWTVYPPLAGNYSHPGASVDLTIFSLHLAGVSSILGAINFITTIINMKPPAMTQYQ
TPLFVWSVLITAVLLLLSLPVLAAGITMLLTDRNLNTTFFDPAGGGDPILYQHLFWFFGH
PEVYILILPGFGMISHIVTYYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMFTVGMDVD
TRAYFTSATMIIAIPTGVKVFSWLATLHGSNMKWSAAVLWALGFIFLFTVGGLTGIVLAN
SSLDIVLHDTYYVVAHFHYVLSMGAVFAIMGGFIHWFPLFSGYTLDQTYAKIHFTIMFIG
VNLTFFPQHFLGLSGMPRRYSDYPDAYTTWNILSSVGSFISLTAVMLMIFMIWEAFASKR
KVLMVEEPSMNLEWLYGCPPPYHTFEEPVYMKS
Number of residues
513
Molecular Weight
57040.91
Theoretical pI
6.7
GO Classification
Functions
cytochrome-c oxidase activity / heme binding / iron ion binding
Processes
aerobic respiration / aging / cellular metabolic process / cerebellum development / gene expression / hydrogen ion transmembrane transport / oxidative phosphorylation / respiratory electron transport chain / response to copper ion / response to electrical stimulus / response to oxidative stress / small molecule metabolic process / transcription initiation from RNA polymerase II promoter
Components
integral component of membrane / mitochondrial inner membrane / mitochondrial respiratory chain complex IV / respiratory chain complex IV
General Function
Iron ion binding
Specific Function
Cytochrome c oxidase is 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. CO I is the catalytic subunit of the enzyme. Electrons originating in cytochrome c are transferred via the copper A center of subunit 2 and heme A of subunit 1 to the bimetallic center formed by heme A3 and copper B.
Pfam Domain Function
Transmembrane Regions
20-42 57-79 100-122 147-169 182-204 236-258 271-293 303-325 337-359 374-396 409-431 451-473
Cellular Location
Mitochondrion inner membrane
Gene sequence
>lcl|BSEQ0010094|Cytochrome c oxidase subunit 1 (MT-CO1)
ATGTTCGCCGACCGTTGACTATTCTCTACAAACCACAAAGACATTGGAACACTATACCTA
TTATTCGGCGCATGAGCTGGAGTCCTAGGCACAGCTCTAAGCCTCCTTATTCGAGCCGAG
CTGGGCCAGCCAGGCAACCTTCTAGGTAACGACCACATCTACAACGTTATCGTCACAGCC
CATGCATTTGTAATAATCTTCTTCATAGTAATACCCATCATAATCGGAGGCTTTGGCAAC
TGACTAGTTCCCCTAATAATCGGTGCCCCCGATATGGCGTTTCCCCGCATAAACAACATA
AGCTTCTGACTCTTACCTCCCTCTCTCCTACTCCTGCTCGCATCTGCTATAGTGGAGGCC
GGAGCAGGAACAGGTTGAACAGTCTACCCTCCCTTAGCAGGGAACTACTCCCACCCTGGA
GCCTCCGTAGACCTAACCATCTTCTCCTTACACCTAGCAGGTGTCTCCTCTATCTTAGGG
GCCATCAATTTCATCACAACAATTATCAATATAAAACCCCCTGCCATAACCCAATACCAA
ACGCCCCTCTTCGTCTGATCCGTCCTAATCACAGCAGTCCTACTTCTCCTATCTCTCCCA
GTCCTAGCTGCTGGCATCACTATACTACTAACAGACCGCAACCTCAACACCACCTTCTTC
GACCCCGCCGGAGGAGGAGACCCCATTCTATACCAACACCTATTCTGATTTTTCGGTCAC
CCTGAAGTTTATATTCTTATCCTACCAGGCTTCGGAATAATCTCCCATATTGTAACTTAC
TACTCCGGAAAAAAAGAACCATTTGGATACATAGGTATGGTCTGAGCTATGATATCAATT
GGCTTCCTAGGGTTTATCGTGTGAGCACACCATATATTTACAGTAGGAATAGACGTAGAC
ACACGAGCATATTTCACCTCCGCTACCATAATCATCGCTATCCCCACCGGCGTCAAAGTA
TTTAGCTGACTCGCCACACTCCACGGAAGCAATATGAAATGATCTGCTGCAGTGCTCTGA
GCCCTAGGATTCATCTTTCTTTTCACCGTAGGTGGCCTGACTGGCATTGTATTAGCAAAC
TCATCACTAGACATCGTACTACACGACACGTACTACGTTGTAGCCCACTTCCACTATGTC
CTATCAATAGGAGCTGTATTTGCCATCATAGGAGGCTTCATTCACTGATTTCCCCTATTC
TCAGGCTACACCCTAGACCAAACCTACGCCAAAATCCATTTCACTATCATATTCATCGGC
GTAAATCTAACTTTCTTCCCACAACACTTTCTCGGCCTATCCGGAATGCCCCGACGTTAC
TCGGACTACCCCGATGCATACACCACATGAAACATCCTATCATCTGTAGGCTCATTCATT
TCTCTAACAGCAGTAATATTAATAATTTTCATGATTTGAGAAGCCTTCGCTTCGAAGCGA
AAAGTCCTAATAGTAGAAGAACCCTCCATAAACCTGGAGTGACTATATGGATGCCCCCCA
CCCTACCACACATTCGAAGAACCCGTATACATAAAATCTAGA
Chromosome Location
Not Available
Locus
-
External Identifiers
ResourceLink
UniProtKB IDP00395
UniProtKB Entry NameCOX1_HUMAN
GenBank Protein ID13006
GenBank Gene IDV00662
GenAtlas IDMT-CO1
HGNC IDHGNC:7419
General References
  1. Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Staden R, Young IG: Sequence and organization of the human mitochondrial genome. Nature. 1981 Apr 9;290(5806):457-65. [Article]
  2. Horai S, Hayasaka K, Kondo R, Tsugane K, Takahata N: Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs. Proc Natl Acad Sci U S A. 1995 Jan 17;92(2):532-6. [Article]
  3. Moilanen JS, Finnila S, Majamaa K: Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J. Mol Biol Evol. 2003 Dec;20(12):2132-42. Epub 2003 Aug 29. [Article]
  4. Ingman M, Kaessmann H, Paabo S, Gyllensten U: Mitochondrial genome variation and the origin of modern humans. Nature. 2000 Dec 7;408(6813):708-13. [Article]
  5. Ingman M, Gyllensten U: Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines. Genome Res. 2003 Jul;13(7):1600-6. [Article]
  6. Coble MD, Just RS, O'Callaghan JE, Letmanyi IH, Peterson CT, Irwin JA, Parsons TJ: Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians. Int J Legal Med. 2004 Jun;118(3):137-46. Epub 2004 Feb 4. [Article]
  7. Sanger F, Coulson AR, Barrell BG, Smith AJ, Roe BA: Cloning in single-stranded bacteriophage as an aid to rapid DNA sequencing. J Mol Biol. 1980 Oct 25;143(2):161-78. [Article]
  8. Pandya A, Xia XJ, Erdenetungalag R, Amendola M, Landa B, Radnaabazar J, Dangaasuren B, Van Tuyle G, Nance WE: Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia. Am J Hum Genet. 1999 Dec;65(6):1803-6. [Article]
  9. Vaca Jacome AS, Rabilloud T, Schaeffer-Reiss C, Rompais M, Ayoub D, Lane L, Bairoch A, Van Dorsselaer A, Carapito C: N-terminome analysis of the human mitochondrial proteome. Proteomics. 2015 Jul;15(14):2519-24. doi: 10.1002/pmic.201400617. Epub 2015 Jun 8. [Article]
  10. Marzuki S, Noer AS, Lertrit P, Thyagarajan D, Kapsa R, Utthanaphol P, Byrne E: Normal variants of human mitochondrial DNA and translation products: the building of a reference data base. Hum Genet. 1991 Dec;88(2):139-45. [Article]
  11. Brown MD, Yang CC, Trounce I, Torroni A, Lott MT, Wallace DC: A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I. Am J Hum Genet. 1992 Aug;51(2):378-85. [Article]
  12. Gattermann N, Retzlaff S, Wang YL, Hofhaus G, Heinisch J, Aul C, Schneider W: Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia. Blood. 1997 Dec 15;90(12):4961-72. [Article]
  13. Broker S, Meunier B, Rich P, Gattermann N, Hofhaus G: MtDNA mutations associated with sideroblastic anaemia cause a defect of mitochondrial cytochrome c oxidase. Eur J Biochem. 1998 Nov 15;258(1):132-8. [Article]
  14. Karadimas CL, Greenstein P, Sue CM, Joseph JT, Tanji K, Haller RG, Taivassalo T, Davidson MM, Shanske S, Bonilla E, DiMauro S: Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA. Neurology. 2000 Sep 12;55(5):644-9. [Article]
  15. Varlamov DA, Kudin AP, Vielhaber S, Schroder R, Sassen R, Becker A, Kunz D, Haug K, Rebstock J, Heils A, Elger CE, Kunz WS: Metabolic consequences of a novel missense mutation of the mtDNA CO I gene. Hum Mol Genet. 2002 Aug 1;11(16):1797-805. [Article]
  16. Lucioli S, Hoffmeier K, Carrozzo R, Tessa A, Ludwig B, Santorelli FM: Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient. Neurogenetics. 2006 Mar;7(1):51-7. Epub 2005 Nov 12. [Article]
  17. Greaves LC, Preston SL, Tadrous PJ, Taylor RW, Barron MJ, Oukrif D, Leedham SJ, Deheragoda M, Sasieni P, Novelli MR, Jankowski JA, Turnbull DM, Wright NA, McDonald SA: Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission. Proc Natl Acad Sci U S A. 2006 Jan 17;103(3):714-9. Epub 2006 Jan 6. [Article]
  18. Namslauer I, Brzezinski P: A mitochondrial DNA mutation linked to colon cancer results in proton leaks in cytochrome c oxidase. Proc Natl Acad Sci U S A. 2009 Mar 3;106(9):3402-7. doi: 10.1073/pnas.0811450106. Epub 2009 Feb 13. [Article]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB02659Cholic AcidapprovedunknownDetails
DB04464N-FormylmethionineexperimentalunknownDetails
DB09140Oxygenapproved, vet_approvedunknownagonistactivatorDetails
DB09130Copperapproved, investigationalunknowncofactorDetails
DB06778Cupric sulfateapprovedunknowninducerDetails