Showing Protein Cytochrome b (HMDBP00989)

• 6277

1. Complex III subunit 3
2. Complex III subunit III
3. Cytochrome b-c1 complex subunit 3
4. Ubiquinol-cytochrome-c reductase complex cytochrome b subunit

1. Mitochondrion inner membrane
2. Multi-pass membrane protein

>1141 bp
ATGACCCCAATACGCAAAATTAACCCCCTAATAAAATTAATTAACCACTCATTCATCGAC
CTCCCCACCCCATCCAACATCTCCGCATGATGAAACTTCGGCTCACTCCTTGGCGCCTGC
CTGATCCTCCAAATCACCACAGGACTATTCCTAGCCATGCACTACTCACCAGACGCCTCA
ACCGCCTTTTCATCAATCGCCCACATCACTCGAGACGTAAATTATGGCTGAATCATCCGC
TACCTTCACGCCAATGGCGCCTCAATATTCTTTATCTGCCTCTTCCTACACATCGGGCGA
GGCCTATATTACGGATCATTTCTCTACTCAGAAACCTGAAACATCGGCATTATCCTCCTG
CTTGCAACTATAGCAACAGCCTTCATAGGTTATGTCCTCCCGTGAGGCCAAATATCATTC
TGAGGGGCCACAGTAATTACAAACTTACTATCCGCCATCCCATACATTGGGACAGACCTA
GTTCAATGAATCTGAGGAGGCTACTCAGTAGACAGTCCCACCCTCACACGATTCTTTACC
TTTCACTTCATCTTGCCCTTCATTATTGCAACCCTAGCAGCACTCCACCTCCTATTCTTG
CACGAAACGGGATCAAACAACCCCCTAGGAATCACCTCCCATTCCGATAAAATCACCTTC
CACCCTTACTACACAATCAAAGACACCCTCGGCTTACTTCTCTTCCTTCTCTCCTTAATG
ACATTAACACTATTCTCACCAGACCTCCTAGGCGACCCAGACAATTATACCCTAGCCAAC
CCCTTAAACACCCCTCCCCACATCAAGCCCGAATGATATTTCCTATTCGCCTACACAATT
CTCCGATCCGTCCCTAACAAACTAGGAGGCGTCCTTGCCCTATTACTATCCATCCTCATC
CTAGCAATAATCCCCATCCTCCATATATCCAAACAACAAAGCATAATATTTCGCCCACTA
AGCCAATCACTTTATTGACTCCTAGCCGCAGACCTCCTCATTCTAACCTGAATCGGAGGA
CAACCAGTAAGCTACCCTTTTACCATCATTGGACAAGTAGCATCCGTACTATACTTCACA
ACAATCCTAATCCTAATACCAACTATCTCCCTAATTGAAAACAAAATACTCAAATGGGCC
T

• Cytochrom_B_C (PF00032 )
• Cytochrom_B_N (PF00033 )

• None

• 33-53
• 76-98
• 115-135
• 138-158
• 178-198
• 230-250
• 288-308
• 323-343
• 349-369

>Cytochrome b
MTPMRKINPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPDAS
TAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIGIILL
LATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFT
FHFILPFIIAALATLHLLFLHETGSNNPLGITSHSDKITFHPYYTIKDALGLLLFLLSLM
TLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTILRSVPNKLGGVLALLLSILI
LAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFTIIGQVASVLYFT
TILILMPTISLIENKMLKWA

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11. 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. [PubMed:7623448 ]
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13. 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. [PubMed:11047755 ]
14. 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. [PubMed:8910895 ]
15. 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. [PubMed:9818877 ]
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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed: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. [PubMed:12905068 ]