| Identification |
|---|
| HMDB Protein ID
| HMDBP01630 |
| Secondary Accession Numbers
| |
| Name
| Cytochrome c oxidase subunit 1 |
| Synonyms
|
- Cytochrome c oxidase polypeptide I
|
| Gene Name
| MT-CO1 |
| Protein Type
| Unknown |
| Biological Properties |
|---|
| General Function
| Involved in 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.
|
| Pathways
|
- Alzheimer disease
- Cardiac muscle contraction
- Huntington disease
- Oxidative phosphorylation
- Parkinson disease
|
| Reactions
|
| ferrocytochrome c + Oxygen + Hydrogen Ion → ferricytochrome c + Water |
details
|
|
| GO Classification
|
| Biological Process |
| small molecule metabolic process |
| mitochondrial electron transport, cytochrome c to oxygen |
| cerebellum development |
| response to electrical stimulus |
| response to oxidative stress |
| aging |
| aerobic respiration |
| response to copper ion |
| Cellular Component |
| respiratory chain |
| integral to membrane |
| mitochondrial inner membrane |
| Component |
| cell part |
| membrane part |
| intrinsic to membrane |
| integral to membrane |
| Function |
| ion binding |
| cation binding |
| metal ion binding |
| binding |
| transition metal ion binding |
| electron carrier activity |
| iron ion binding |
| heme binding |
| Molecular Function |
| electron carrier activity |
| cytochrome-c oxidase activity |
| iron ion binding |
| heme binding |
| Process |
| metabolic process |
| generation of precursor metabolites and energy |
| cellular metabolic process |
| energy derivation by oxidation of organic compounds |
| cellular respiration |
| aerobic respiration |
|
| Cellular Location
|
- Mitochondrion inner membrane
- Multi-pass membrane protein
|
| Gene Properties |
|---|
| Chromosome Location
| Not Available |
| Locus
| Not Available |
| SNPs
| MT-CO1 |
| Gene Sequence
|
>1542 bp
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
|
| Protein Properties |
|---|
| Number of Residues
| 513 |
| Molecular Weight
| 57040.91 |
| Theoretical pI
| 6.701 |
| Pfam Domain Function
|
|
| Signals
|
Not Available
|
|
Transmembrane Regions
|
Not Available
|
| Protein Sequence
|
>Cytochrome c oxidase subunit 1
MFADRWLFSTNHKDIGTLYLLFGAWAGVLGTALSLLIRAELGQPGNLLGNDHIYNVIVTA
HAFVMIFFMVMPIMIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSLLLLLASAMVEA
GAGTGWTVYPPLAGNYSHPGASVDLTIFSLHLAGVSSILGAINFITTIINMKPPAMTQYQ
TPLFVWSVLITAVLLLLSLPVLAAGITMLLTDRNLNTTFFDPAGGGDPILYQHLFWFFGH
PEVYILILPGFGMISHIVTYYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMFTVGMDVD
TRAYFTSATMIIAIPTGVKVFSWLATLHGSNMKWSAAVLWALGFIFLFTVGGLTGIVLAN
SSLDIVLHDTYYVVAHFHYVLSMGAVFAIMGGFIHWFPLFSGYTLDQTYAKIHFTIMFIG
VNLTFFPQHFLGLSGMPRRYSDYPDAYTTWNILSSVGSFISLTAVMLMIFMIWEAFASKR
KVLMVEEPSMNLEWLYGCPPPYHTFEEPVYMKS
|
| External Links |
|---|
| GenBank ID Protein
| 13006 |
| UniProtKB/Swiss-Prot ID
| P00395 |
| UniProtKB/Swiss-Prot Entry Name
| COX1_HUMAN |
| PDB IDs
|
Not Available |
| GenBank Gene ID
| V00662 |
| GeneCard ID
| MT-CO1 |
| GenAtlas ID
| MT-CO1 |
| HGNC ID
| HGNC:7419 |
| References |
|---|
| General References
| - 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. [PubMed:7219534 ]
- 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. [PubMed:7530363 ]
- 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. [PubMed:12949126 ]
- 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. [PubMed:11130070 ]
- Ingman M, Gyllensten U: Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines. Genome Res. 2003 Jul;13(7):1600-6. [PubMed:12840039 ]
- 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. [PubMed:14760490 ]
- 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. [PubMed:6260957 ]
- 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. [PubMed:1757091 ]
- 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. [PubMed:1322638 ]
- 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. [PubMed:9389715 ]
- 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. [PubMed:9851701 ]
- 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. [PubMed:10980727 ]
- 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. [PubMed:12140182 ]
- 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. [PubMed:16284789 ]
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