Cytochrome b


NameCytochrome b
SynonymsCOB Complex III subunit 3 Complex III subunit III CYTB Cytochrome b-c1 complex subunit 3 MTCYB Ubiquinol-cytochrome-c reductase complex cytochrome b subunit
Gene NameMT-CYB
OrganismHuman
Amino acid sequence
>lcl|BSEQ0010658|Cytochrome b
MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPDAS
TAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIGIILL
LATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFT
FHFILPFIIAALATLHLLFLHETGSNNPLGITSHSDKITFHPYYTIKDALGLLLFLLSLM
TLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTILRSVPNKLGGVLALLLSILI
LAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFTIIGQVASVLYFT
TILILMPTISLIENKMLKWA
Number of residues380
Molecular Weight42717.055
Theoretical pI8.22
GO Classification
Functions
    metal ion binding
    ubiquinol-cytochrome-c reductase activity
    electron carrier activity
Processes
    cellular metabolic process
    response to heat
    response to hyperoxia
    organ regeneration
    response to hypoxia
    response to glucagon
    respiratory electron transport chain
    hyperosmotic salinity response
    response to calcium ion
    response to drug
    response to toxic substance
    response to cobalamin
    response to ethanol
    response to cadmium ion
    response to copper ion
    mitochondrial electron transport, ubiquinol to cytochrome c
    hydrogen ion transmembrane transport
    small molecule metabolic process
    response to mercury ion
Components
    mitochondrion
    mitochondrial inner membrane
    mitochondrial respiratory chain complex III
General FunctionUbiquinol-cytochrome-c reductase activity
Specific FunctionComponent of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is a respiratory chain that generates an electrochemical potential coupled to ATP synthesis.
Transmembrane Regions33-53 76-98 115-135 138-158 178-198 230-250 288-308 323-343 349-369
GenBank Protein ID13016
UniProtKB IDP00156
UniProtKB Entry NameCYB_HUMAN
Cellular LocationMitochondrion inner membrane
Gene sequence
>lcl|BSEQ0010659|Cytochrome b (MT-CYB)
ATGACCCCAATACGCAAAACTAACCCCCTAATAAAATTAATTAACCACTCATTCATCGAC
CTCCCCACCCCATCCAACATCTCCGCATGATGAAACTTCGGCTCACTCCTTGGCGCCTGC
CTGATCCTCCAAATCACCACAGGACTATTCCTAGCCATGCACTACTCACCAGACGCCTCA
ACCGCCTTTTCATCAATCGCCCACATCACTCGAGACGTAAATTATGGCTGAATCATCCGC
TACCTTCACGCCAATGGCGCCTCAATATTCTTTATCTGCCTCTTCCTACACATCGGGCGA
GGCCTATATTACGGATCATTTCTCTACTCAGAAACCTGAAACATCGGCATTATCCTCCTG
CTTGCAACTATAGCAACAGCCTTCATAGGCTATGTCCTCCCGTGAGGCCAAATATCATTC
TGAGGGGCCACAGTAATTACAAACTTACTATCCGCCATCCCATACATTGGGACAGACCTA
GTTCAATGAATCTGAGGAGGCTACTCAGTAGACAGTCCCACCCTCACACGATTCTTTACC
TTTCACTTCATCTTGCCCTTCATTATTGCAGCCCTAGCAACACTCCACCTCCTATTCTTG
CACGAAACGGGATCAAACAACCCCCTAGGAATCACCTCCCATTCCGATAAAATCACCTTC
CACCCTTACTACACAATCAAAGACGCCCTCGGCTTACTTCTCTTCCTTCTCTCCTTAATG
ACATTAACACTATTCTCACCAGACCTCCTAGGCGACCCAGACAATTATACCCTAGCCAAC
CCCTTAAACACCCCTCCCCACATCAAGCCCGAATGATATTTCCTATTCGCCTACACAATT
CTCCGATCCGTCCCTAACAAACTAGGAGGCGTCCTTGCCCTATTACTATCCATCCTCATC
CTAGCAATAATCCCCATCCTCCATATATCCAAACAACAAAGCATAATATTTCGCCCACTA
AGCCAATCACTTTATTGACTCCTAGCCGCAGACCTCCTCATTCTAACCTGAATCGGAGGA
CAACCAGTAAGCTACCCTTTTACCATCATTGGACAAGTAGCATCCGTACTATACTTCACA
ACAATCCTAATCCTAATACCAACTATCTCCCTAATTGAAAACAAAATACTCAAATGGGCC
T
GenBank Gene IDV00662
GeneCard IDNone
GenAtlas IDMT-CYB
HGNC IDHGNC:7427
Chromosome LocationNone
Locus-
References
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  2. Brown MD, Voljavec AS, Lott MT, Torroni A, Yang CC, Wallace DC: Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. Genetics. 1992 Jan;130(1):163-73.[1732158 ]
  3. Dumoulin R, Sagnol I, Ferlin T, Bozon D, Stepien G, Mousson B: A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance. Mol Cell Probes. 1996 Oct;10(5):389-91.[8910895 ]
  4. 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.[7219534 ]
  5. Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N: Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet. 1999 Oct;23(2):147.[10508508 ]
  6. Marin-Garcia J, Ananthakrishnan R, Gonzalvo A, Goldenthal MJ: Novel mutations in mitochondrial cytochrome b in fatal post partum cardiomyopathy. J Inherit Metab Dis. 1995;18(1):77-8.[7623448 ]
  7. 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.[7530363 ]
  8. 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.[11130070 ]
  9. Maca-Meyer N, Gonzalez AM, Larruga JM, Flores C, Cabrera VM: Major genomic mitochondrial lineages delineate early human expansions. BMC Genet. 2001;2:13. Epub 2001 Aug 13.[11553319 ]
  10. Spurr NK, Bodmer WF: Serendipitous cloning of a mitochondrial cDNA and its polymorphism. Mol Biol Med. 1984 Aug;2(4):239-49.[6100559 ]
  11. Keightley JA, Anitori R, Burton MD, Quan F, Buist NR, Kennaway NG: Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene. Am J Hum Genet. 2000 Dec;67(6):1400-10. Epub 2000 Oct 20.[11047755 ]
  12. 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.[25944712 ]
  13. Andreu AL, Bruno C, Shanske S, Shtilbans A, Hirano M, Krishna S, Hayward L, Systrom DS, Brown RH Jr, DiMauro S: Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy. Neurology. 1998 Nov;51(5):1444-7.[9818877 ]
  14. Polyak K, Li Y, Zhu H, Lengauer C, Willson JK, Markowitz SD, Trush MA, Kinzler KW, Vogelstein B: Somatic mutations of the mitochondrial genome in human colorectal tumours. Nat Genet. 1998 Nov;20(3):291-3.[9806551 ]
  15. Valnot I, Kassis J, Chretien D, de Lonlay P, Parfait B, Munnich A, Kachaner J, Rustin P, Rotig A: A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency. Hum Genet. 1999 Jun;104(6):460-6.[10453733 ]
  16. Andreu AL, Hanna MG, Reichmann H, Bruno C, Penn AS, Tanji K, Pallotti F, Iwata S, Bonilla E, Lach B, Morgan-Hughes J, DiMauro S: Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. N Engl J Med. 1999 Sep 30;341(14):1037-44.[10502593 ]
  17. Andreu AL, Checcarelli N, Iwata S, Shanske S, DiMauro S: A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy. Pediatr Res. 2000 Sep;48(3):311-4.[10960495 ]
  18. Wibrand F, Ravn K, Schwartz M, Rosenberg T, Horn N, Vissing J: Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene. Ann Neurol. 2001 Oct;50(4):540-3.[11601507 ]
  19. Legros F, Chatzoglou E, Frachon P, Ogier De Baulny H, Laforet P, Jardel C, Godinot C, Lombes A: Functional characterization of novel mutations in the human cytochrome b gene. Eur J Hum Genet. 2001 Jul;9(7):510-8.[11464242 ]
  20. Schuelke M, Krude H, Finckh B, Mayatepek E, Janssen A, Schmelz M, Trefz F, Trijbels F, Smeitink J: Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation. Ann Neurol. 2002 Mar;51(3):388-92.[11891837 ]
  21. Okura T, Koda M, Ando F, Niino N, Tanaka M, Shimokata H: Association of the mitochondrial DNA 15497G/A polymorphism with obesity in a middle-aged and elderly Japanese population. Hum Genet. 2003 Oct;113(5):432-6. Epub 2003 Aug 2.[12905068 ]
  22. Burkard TR, Planyavsky M, Kaupe I, Breitwieser FP, Burckstummer T, Bennett KL, Superti-Furga G, Colinge J: Initial characterization of the human central proteome. BMC Syst Biol. 2011 Jan 26;5:17. doi: 10.1186/1752-0509-5-17.[21269460 ]
  23. Silva WA Jr, Bonatto SL, Holanda AJ, Ribeiro-Dos-Santos AK, Paixao BM, Goldman GH, Abe-Sandes K, Rodriguez-Delfin L, Barbosa M, Paco-Larson ML, Petzl-Erler ML, Valente V, Santos SE, Zago MA: Mitochondrial genome diversity of Native Americans supports a single early entry of founder populations into America. Am J Hum Genet. 2002 Jul;71(1):187-92. Epub 2002 May 17.[12022039 ]

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