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P00156

- CYB_HUMAN

UniProt

P00156 - CYB_HUMAN

Protein

Cytochrome b

Gene

MT-CYB

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 165 (01 Oct 2014)
      Sequence version 2 (03 Oct 2012)
      Previous versions | rss
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    Functioni

    Component 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.By similarity

    Cofactori

    Binds 2 heme groups non-covalently.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi83 – 831Iron 1 (heme b562 axial ligand)
    Metal bindingi97 – 971Iron 2 (heme b566 axial ligand)
    Metal bindingi182 – 1821Iron 1 (heme b562 axial ligand)
    Metal bindingi196 – 1961Iron 2 (heme b566 axial ligand)

    GO - Molecular functioni

    1. electron carrier activity Source: InterPro
    2. metal ion binding Source: UniProtKB-KW
    3. ubiquinol-cytochrome-c reductase activity Source: UniProtKB

    GO - Biological processi

    1. cellular metabolic process Source: Reactome
    2. hydrogen ion transmembrane transport Source: GOC
    3. mitochondrial electron transport, ubiquinol to cytochrome c Source: UniProtKB
    4. respiratory electron transport chain Source: Reactome
    5. small molecule metabolic process Source: Reactome

    Keywords - Biological processi

    Electron transport, Respiratory chain, Transport

    Keywords - Ligandi

    Heme, Iron, Metal-binding

    Enzyme and pathway databases

    ReactomeiREACT_22393. Respiratory electron transport.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cytochrome b
    Alternative name(s):
    Complex III subunit 3
    Complex III subunit III
    Cytochrome b-c1 complex subunit 3
    Ubiquinol-cytochrome-c reductase complex cytochrome b subunit
    Gene namesi
    Name:MT-CYB
    Synonyms:COB, CYTB, MTCYB
    Encoded oniMitochondrion
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Mitochondrion

    Organism-specific databases

    HGNCiHGNC:7427. MT-CYB.

    Subcellular locationi

    GO - Cellular componenti

    1. mitochondrial inner membrane Source: Reactome
    2. mitochondrial respiratory chain complex III Source: UniProtKB
    3. mitochondrion Source: UniProt

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    Pathology & Biotechi

    Involvement in diseasei

    Defects in MT-CYB are a rare cause of mitochondrial dysfunction underlying different myopathies. They include mitochondrial encephalomyopathy, hypertrophic cardiomyopathy (HCM), and sporadic mitochondrial myopathy (MM). In mitochondrial myopathy, exercise intolerance is the predominant symptom. Additional features include lactic acidosis, muscle weakness and/or myoglobinuria. Defects in MTCYB are also found in cases of exercise intolerance accompanied by deafness, mental retardation, retinitis pigmentosa, cataract, growth retardation, epilepsy (multisystem disorder).2 Publications
    Cardiomyopathy, infantile histiocytoid (CMIH) [MIM:500000]: A heart disease characterized by the presence of pale granular foamy histiocyte-like cells within the myocardium. It usually affects children younger than 2 years of age, with a clear predominance of females over males. Infants present with dysrhythmia or cardiac arrest. The clinical course is usually fulminant, sometimes simulating sudden infant death syndrome.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti251 – 2511G → D in CMIH. 1 Publication
    VAR_013656
    Leber hereditary optic neuropathy (LHON) [MIM:535000]: A maternally inherited disease resulting in acute or subacute loss of central vision, due to optic nerve dysfunction. Cardiac conduction defects and neurological defects have also been described in some patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes.1 Publication
    Note: The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti171 – 1711D → N in LHON; secondary mutation; does not seem to directly cause the disease. 1 Publication
    VAR_002197
    Natural varianti356 – 3561V → M in LHON; secondary mutation; does not seem to directly cause the disease. 2 Publications
    VAR_002199

    Keywords - Diseasei

    Cardiomyopathy, Cataract, Deafness, Disease mutation, Leber hereditary optic neuropathy

    Organism-specific databases

    MIMi500000. phenotype.
    535000. phenotype.
    Orphaneti137675. Histiocytoid cardiomyopathy.
    1460. Isolated CoQ-cytochrome C reductase deficiency.
    104. Leber hereditary optic neuropathy.
    PharmGKBiPA31234.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 380380Cytochrome bPRO_0000061045Add
    BLAST

    Proteomic databases

    MaxQBiP00156.
    PaxDbiP00156.
    PRIDEiP00156.

    PTM databases

    PhosphoSiteiP00156.

    Expressioni

    Gene expression databases

    GenevestigatoriP00156.

    Organism-specific databases

    HPAiCAB032215.

    Interactioni

    Subunit structurei

    The bc1 complex contains 11 subunits: 3 respiratory subunits (cytochrome b, cytochrome c1 and Rieske/UQCRFS1), 2 core proteins (UQCRC1/QCR1 and UQCRC2/QCR2) and 6 low-molecular weight proteins (UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9, UQCR11/QCR10 and a cleavage product of Rieske/UQCRFS1).

    Protein-protein interaction databases

    BioGridi110619. 1 interaction.
    IntActiP00156. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliP00156.
    SMRiP00156. Positions 15-379.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei33 – 5321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei76 – 9823HelicalSequence AnalysisAdd
    BLAST
    Transmembranei115 – 13521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei138 – 15821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei178 – 19821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei230 – 25021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei288 – 30821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei323 – 34321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei349 – 36921HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the cytochrome b family.PROSITE-ProRule annotation

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1290.
    HOVERGENiHBG017694.
    InParanoidiP00156.
    KOiK00412.
    OMAiNTINQIF.
    OrthoDBiEOG7BGHKX.
    PhylomeDBiP00156.
    TreeFamiTF353088.

    Family and domain databases

    Gene3Di1.20.810.10. 1 hit.
    InterProiIPR005798. Cyt_b/b6_C.
    IPR005797. Cyt_b/b6_N.
    IPR027387. Cytb/b6-like.
    IPR016174. Di-haem_cyt_TM.
    [Graphical view]
    PfamiPF00032. Cytochrom_B_C. 1 hit.
    PF13631. Cytochrom_B_N_2. 1 hit.
    [Graphical view]
    SUPFAMiSSF81342. SSF81342. 1 hit.
    SSF81648. SSF81648. 1 hit.
    PROSITEiPS51003. CYTB_CTER. 1 hit.
    PS51002. CYTB_NTER. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P00156-1 [UniParc]FASTAAdd to Basket

    « Hide

    MTPMRKTNPL MKLINHSFID LPTPSNISAW WNFGSLLGAC LILQITTGLF    50
    LAMHYSPDAS TAFSSIAHIT RDVNYGWIIR YLHANGASMF FICLFLHIGR 100
    GLYYGSFLYS ETWNIGIILL LATMATAFMG YVLPWGQMSF WGATVITNLL 150
    SAIPYIGTDL VQWIWGGYSV DSPTLTRFFT FHFILPFIIA ALATLHLLFL 200
    HETGSNNPLG ITSHSDKITF HPYYTIKDAL GLLLFLLSLM TLTLFSPDLL 250
    GDPDNYTLAN PLNTPPHIKP EWYFLFAYTI LRSVPNKLGG VLALLLSILI 300
    LAMIPILHMS KQQSMMFRPL SQSLYWLLAA DLLILTWIGG QPVSYPFTII 350
    GQVASVLYFT TILILMPTIS LIENKMLKWA 380
    Length:380
    Mass (Da):42,718
    Last modified:October 3, 2012 - v2
    Checksum:i600E520C262E5498
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti7 – 71T → I.8 Publications
    Corresponds to variant rs3135031 [ dbSNP | Ensembl ].
    VAR_008585
    Natural varianti8 – 81N → S.3 Publications
    Corresponds to variant rs28357679 [ dbSNP | Ensembl ].
    VAR_013643
    Natural varianti18 – 181F → L.3 Publications
    Corresponds to variant rs28357681 [ dbSNP | Ensembl ].
    VAR_013644
    Natural varianti34 – 341G → S in mitochondrial myopathy; sporadic. 1 Publication
    VAR_013645
    Natural varianti35 – 351S → P in exercice intolerance; with cardiomyopathy and septo-optic dysplasia. 1 Publication
    VAR_033058
    Natural varianti39 – 391A → T.1 Publication
    VAR_015571
    Natural varianti39 – 391A → V.1 Publication
    VAR_013646
    Natural varianti78 – 781I → T.1 Publication
    VAR_013647
    Natural varianti78 – 781I → V.1 Publication
    VAR_015572
    Natural varianti80 – 801R → H in colorectal cancer. 1 Publication
    VAR_008388
    Natural varianti87 – 871A → P.1 Publication
    VAR_008586
    Natural varianti122 – 1221A → T.2 Publications
    Corresponds to variant rs28357685 [ dbSNP | Ensembl ].
    VAR_013648
    Natural varianti123 – 1231T → A.1 Publication
    VAR_013649
    Natural varianti151 – 1511S → P in exercise intolerance. 1 Publication
    VAR_013650
    Natural varianti153 – 1531I → T.1 Publication
    Corresponds to variant rs28357687 [ dbSNP | Ensembl ].
    VAR_013651
    Natural varianti164 – 1641I → V.1 Publication
    VAR_013652
    Natural varianti166 – 1661G → E in hyperthrophic cardiomyopathy. 1 Publication
    VAR_013653
    Natural varianti171 – 1711D → N in LHON; secondary mutation; does not seem to directly cause the disease. 1 Publication
    VAR_002197
    Natural varianti189 – 1902IA → VT.
    VAR_013654
    Natural varianti191 – 1911A → T.2 Publications
    VAR_011339
    Natural varianti194 – 1941T → A.5 Publications
    Corresponds to variant rs2853508 [ dbSNP | Ensembl ].
    VAR_011340
    Natural varianti229 – 2291A → T.3 Publications
    Corresponds to variant rs2853509 [ dbSNP | Ensembl ].
    VAR_011341
    Natural varianti236 – 2361L → I.3 Publications
    Corresponds to variant rs3088309 [ dbSNP | Ensembl ].
    VAR_013655
    Natural varianti251 – 2588Missing in mitochondrial myopathy; sporadic.
    VAR_013657
    Natural varianti251 – 2511G → D in CMIH. 1 Publication
    VAR_013656
    Natural varianti251 – 2511G → S Associated with susceptibility to obesity. 1 Publication
    VAR_033059
    Natural varianti255 – 2551N → H in cardiomyopathy; fatal; post-partum. 1 Publication
    VAR_013658
    Natural varianti260 – 2601N → D.1 Publication
    VAR_015573
    Natural varianti276 – 2761F → L in colorectal cancer. 1 Publication
    VAR_008389
    Natural varianti278 – 2781Y → C in multisystem disorder. 1 Publication
    VAR_013659
    Natural varianti290 – 2901G → D in exercise intolerance. 1 Publication
    VAR_013660
    Natural varianti306 – 3061I → T.1 Publication
    VAR_013661
    Natural varianti316 – 3161M → T.1 Publication
    VAR_013662
    Natural varianti329 – 3291A → T.1 Publication
    VAR_013663
    Natural varianti330 – 3301A → T.1 Publication
    VAR_013664
    Natural varianti334 – 3341I → V.1 Publication
    VAR_013665
    Natural varianti339 – 3391G → E in mitochondrial myopathy. 1 Publication
    VAR_002198
    Natural varianti353 – 3531V → M.1 Publication
    VAR_013666
    Natural varianti356 – 3561V → M in LHON; secondary mutation; does not seem to directly cause the disease. 2 Publications
    VAR_002199
    Natural varianti360 – 3601T → A.1 Publication
    Corresponds to variant rs28357376 [ dbSNP | Ensembl ].
    VAR_013667
    Natural varianti368 – 3681T → I.2 Publications
    VAR_013668

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    V00662 Genomic DNA. Translation: CAA24038.1.
    J01415 Genomic DNA. Translation: AAB58955.3.
    U09500 Genomic DNA. Translation: AAA19775.1.
    D38112 Genomic DNA. Translation: BAA77674.1.
    AF346963 Genomic DNA. Translation: AAK17219.1.
    AF346964 Genomic DNA. Translation: AAK17232.2.
    AF346965 Genomic DNA. Translation: AAK17245.2.
    AF346966 Genomic DNA. Translation: AAK17258.1.
    AF346967 Genomic DNA. Translation: AAK17271.2.
    AF346968 Genomic DNA. Translation: AAK17284.2.
    AF346969 Genomic DNA. Translation: AAK17297.2.
    AF346970 Genomic DNA. Translation: AAK17310.2.
    AF346971 Genomic DNA. Translation: AAK17323.2.
    AF346972 Genomic DNA. Translation: AAK17336.2.
    AF346973 Genomic DNA. Translation: AAK17349.2.
    AF346974 Genomic DNA. Translation: AAK17362.2.
    AF346975 Genomic DNA. Translation: AAK17375.2.
    AF346976 Genomic DNA. Translation: AAK17388.1.
    AF346977 Genomic DNA. Translation: AAK17401.1.
    AF346978 Genomic DNA. Translation: AAK17414.1.
    AF346979 Genomic DNA. Translation: AAK17427.1.
    AF346980 Genomic DNA. Translation: AAK17440.2.
    AF346981 Genomic DNA. Translation: AAK17453.2.
    AF346982 Genomic DNA. Translation: AAK17466.1.
    AF346983 Genomic DNA. Translation: AAK17479.1.
    AF346984 Genomic DNA. Translation: AAK17492.2.
    AF346985 Genomic DNA. Translation: AAK17505.2.
    AF346986 Genomic DNA. Translation: AAK17518.2.
    AF346987 Genomic DNA. Translation: AAK17531.2.
    AF346988 Genomic DNA. Translation: AAK17544.1.
    AF346989 Genomic DNA. Translation: AAK17557.2.
    AF346990 Genomic DNA. Translation: AAK17570.1.
    AF346991 Genomic DNA. Translation: AAK17583.2.
    AF346992 Genomic DNA. Translation: AAK17596.2.
    AF346993 Genomic DNA. Translation: AAK17609.2.
    AF346994 Genomic DNA. Translation: AAK17622.2.
    AF346995 Genomic DNA. Translation: AAK17635.2.
    AF346996 Genomic DNA. Translation: AAK17648.2.
    AF346997 Genomic DNA. Translation: AAK17661.2.
    AF346998 Genomic DNA. Translation: AAK17674.2.
    AF346999 Genomic DNA. Translation: AAK17687.2.
    AF347000 Genomic DNA. Translation: AAK17700.1.
    AF347001 Genomic DNA. Translation: AAK17713.2.
    AF347002 Genomic DNA. Translation: AAK17726.2.
    AF347003 Genomic DNA. Translation: AAK17739.2.
    AF347004 Genomic DNA. Translation: AAK17752.2.
    AF347005 Genomic DNA. Translation: AAK17765.2.
    AF347006 Genomic DNA. Translation: AAK17778.2.
    AF347007 Genomic DNA. Translation: AAK17791.2.
    AF347008 Genomic DNA. Translation: AAK17804.2.
    AF347009 Genomic DNA. Translation: AAK17817.2.
    AF347010 Genomic DNA. Translation: AAK17830.2.
    AF347011 Genomic DNA. Translation: AAK17843.2.
    AF347012 Genomic DNA. Translation: AAK17856.2.
    AF347013 Genomic DNA. Translation: AAK17869.2.
    AF347014 Genomic DNA. Translation: AAK17882.2.
    AF347015 Genomic DNA. Translation: AAK17895.2.
    AF381981 Genomic DNA. Translation: AAL54394.1.
    AF381982 Genomic DNA. Translation: AAL54409.1.
    AF381983 Genomic DNA. Translation: AAL54422.1.
    AF381984 Genomic DNA. Translation: AAL54435.1.
    AF381985 Genomic DNA. Translation: AAL54448.1.
    AF381986 Genomic DNA. Translation: AAL54461.1.
    AF381987 Genomic DNA. Translation: AAL54474.1.
    AF381988 Genomic DNA. Translation: AAL54487.1.
    AF381989 Genomic DNA. Translation: AAL54500.1.
    AF381990 Genomic DNA. Translation: AAL54513.1.
    AF381991 Genomic DNA. Translation: AAL54526.1.
    AF381992 Genomic DNA. Translation: AAL54539.1.
    AF381993 Genomic DNA. Translation: AAL54552.1.
    AF381994 Genomic DNA. Translation: AAL54565.1.
    AF381995 Genomic DNA. Translation: AAL54578.1.
    AF381996 Genomic DNA. Translation: AAL54591.1.
    AF381997 Genomic DNA. Translation: AAL54604.1.
    AF381998 Genomic DNA. Translation: AAL54617.1.
    AF381999 Genomic DNA. Translation: AAL54630.1.
    AF382000 Genomic DNA. Translation: AAL54643.1.
    AF382001 Genomic DNA. Translation: AAL54656.1.
    AF382002 Genomic DNA. Translation: AAL54669.1.
    AF382003 Genomic DNA. Translation: AAL54682.1.
    AF382004 Genomic DNA. Translation: AAL54695.1.
    AF382005 Genomic DNA. Translation: AAL54708.1.
    AF382006 Genomic DNA. Translation: AAL54721.1.
    AF382007 Genomic DNA. Translation: AAL54734.1.
    AF382008 Genomic DNA. Translation: AAL54747.1.
    AF382009 Genomic DNA. Translation: AAL54760.1.
    AF382010 Genomic DNA. Translation: AAL54773.1.
    AF382011 Genomic DNA. Translation: AAL54786.1.
    AF382012 Genomic DNA. Translation: AAL54799.1.
    AF382013 Genomic DNA. Translation: AAL54812.1.
    AF465942 Genomic DNA. Translation: AAN14559.1.
    AF465945 Genomic DNA. Translation: AAN14592.1.
    AF465946 Genomic DNA. Translation: AAN14603.1.
    AF465947 Genomic DNA. Translation: AAN14614.1.
    AF465948 Genomic DNA. Translation: AAN14625.1.
    AF465949 Genomic DNA. Translation: AAN14636.1.
    AF465953 Genomic DNA. Translation: AAN14680.1.
    AF465956 Genomic DNA. Translation: AAN14713.1.
    AF465968 Genomic DNA. Translation: AAN14845.1.
    AF465971 Genomic DNA. Translation: AAN14878.1.
    AF465972 Genomic DNA. Translation: AAN14889.1.
    AF465973 Genomic DNA. Translation: AAN14900.1.
    AF465974 Genomic DNA. Translation: AAN14911.1.
    AF465975 Genomic DNA. Translation: AAN14922.1.
    AF465977 Genomic DNA. Translation: AAN14944.1.
    M28016 mRNA. Translation: AAA31851.1.
    PIRiA00151. CBHU.
    RefSeqiYP_003024038.1. NC_012920.1.

    Genome annotation databases

    EnsembliENST00000361789; ENSP00000354554; ENSG00000198727.
    GeneIDi4519.
    KEGGihsa:4519.

    Polymorphism databases

    DMDMi408360043.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    V00662 Genomic DNA. Translation: CAA24038.1 .
    J01415 Genomic DNA. Translation: AAB58955.3 .
    U09500 Genomic DNA. Translation: AAA19775.1 .
    D38112 Genomic DNA. Translation: BAA77674.1 .
    AF346963 Genomic DNA. Translation: AAK17219.1 .
    AF346964 Genomic DNA. Translation: AAK17232.2 .
    AF346965 Genomic DNA. Translation: AAK17245.2 .
    AF346966 Genomic DNA. Translation: AAK17258.1 .
    AF346967 Genomic DNA. Translation: AAK17271.2 .
    AF346968 Genomic DNA. Translation: AAK17284.2 .
    AF346969 Genomic DNA. Translation: AAK17297.2 .
    AF346970 Genomic DNA. Translation: AAK17310.2 .
    AF346971 Genomic DNA. Translation: AAK17323.2 .
    AF346972 Genomic DNA. Translation: AAK17336.2 .
    AF346973 Genomic DNA. Translation: AAK17349.2 .
    AF346974 Genomic DNA. Translation: AAK17362.2 .
    AF346975 Genomic DNA. Translation: AAK17375.2 .
    AF346976 Genomic DNA. Translation: AAK17388.1 .
    AF346977 Genomic DNA. Translation: AAK17401.1 .
    AF346978 Genomic DNA. Translation: AAK17414.1 .
    AF346979 Genomic DNA. Translation: AAK17427.1 .
    AF346980 Genomic DNA. Translation: AAK17440.2 .
    AF346981 Genomic DNA. Translation: AAK17453.2 .
    AF346982 Genomic DNA. Translation: AAK17466.1 .
    AF346983 Genomic DNA. Translation: AAK17479.1 .
    AF346984 Genomic DNA. Translation: AAK17492.2 .
    AF346985 Genomic DNA. Translation: AAK17505.2 .
    AF346986 Genomic DNA. Translation: AAK17518.2 .
    AF346987 Genomic DNA. Translation: AAK17531.2 .
    AF346988 Genomic DNA. Translation: AAK17544.1 .
    AF346989 Genomic DNA. Translation: AAK17557.2 .
    AF346990 Genomic DNA. Translation: AAK17570.1 .
    AF346991 Genomic DNA. Translation: AAK17583.2 .
    AF346992 Genomic DNA. Translation: AAK17596.2 .
    AF346993 Genomic DNA. Translation: AAK17609.2 .
    AF346994 Genomic DNA. Translation: AAK17622.2 .
    AF346995 Genomic DNA. Translation: AAK17635.2 .
    AF346996 Genomic DNA. Translation: AAK17648.2 .
    AF346997 Genomic DNA. Translation: AAK17661.2 .
    AF346998 Genomic DNA. Translation: AAK17674.2 .
    AF346999 Genomic DNA. Translation: AAK17687.2 .
    AF347000 Genomic DNA. Translation: AAK17700.1 .
    AF347001 Genomic DNA. Translation: AAK17713.2 .
    AF347002 Genomic DNA. Translation: AAK17726.2 .
    AF347003 Genomic DNA. Translation: AAK17739.2 .
    AF347004 Genomic DNA. Translation: AAK17752.2 .
    AF347005 Genomic DNA. Translation: AAK17765.2 .
    AF347006 Genomic DNA. Translation: AAK17778.2 .
    AF347007 Genomic DNA. Translation: AAK17791.2 .
    AF347008 Genomic DNA. Translation: AAK17804.2 .
    AF347009 Genomic DNA. Translation: AAK17817.2 .
    AF347010 Genomic DNA. Translation: AAK17830.2 .
    AF347011 Genomic DNA. Translation: AAK17843.2 .
    AF347012 Genomic DNA. Translation: AAK17856.2 .
    AF347013 Genomic DNA. Translation: AAK17869.2 .
    AF347014 Genomic DNA. Translation: AAK17882.2 .
    AF347015 Genomic DNA. Translation: AAK17895.2 .
    AF381981 Genomic DNA. Translation: AAL54394.1 .
    AF381982 Genomic DNA. Translation: AAL54409.1 .
    AF381983 Genomic DNA. Translation: AAL54422.1 .
    AF381984 Genomic DNA. Translation: AAL54435.1 .
    AF381985 Genomic DNA. Translation: AAL54448.1 .
    AF381986 Genomic DNA. Translation: AAL54461.1 .
    AF381987 Genomic DNA. Translation: AAL54474.1 .
    AF381988 Genomic DNA. Translation: AAL54487.1 .
    AF381989 Genomic DNA. Translation: AAL54500.1 .
    AF381990 Genomic DNA. Translation: AAL54513.1 .
    AF381991 Genomic DNA. Translation: AAL54526.1 .
    AF381992 Genomic DNA. Translation: AAL54539.1 .
    AF381993 Genomic DNA. Translation: AAL54552.1 .
    AF381994 Genomic DNA. Translation: AAL54565.1 .
    AF381995 Genomic DNA. Translation: AAL54578.1 .
    AF381996 Genomic DNA. Translation: AAL54591.1 .
    AF381997 Genomic DNA. Translation: AAL54604.1 .
    AF381998 Genomic DNA. Translation: AAL54617.1 .
    AF381999 Genomic DNA. Translation: AAL54630.1 .
    AF382000 Genomic DNA. Translation: AAL54643.1 .
    AF382001 Genomic DNA. Translation: AAL54656.1 .
    AF382002 Genomic DNA. Translation: AAL54669.1 .
    AF382003 Genomic DNA. Translation: AAL54682.1 .
    AF382004 Genomic DNA. Translation: AAL54695.1 .
    AF382005 Genomic DNA. Translation: AAL54708.1 .
    AF382006 Genomic DNA. Translation: AAL54721.1 .
    AF382007 Genomic DNA. Translation: AAL54734.1 .
    AF382008 Genomic DNA. Translation: AAL54747.1 .
    AF382009 Genomic DNA. Translation: AAL54760.1 .
    AF382010 Genomic DNA. Translation: AAL54773.1 .
    AF382011 Genomic DNA. Translation: AAL54786.1 .
    AF382012 Genomic DNA. Translation: AAL54799.1 .
    AF382013 Genomic DNA. Translation: AAL54812.1 .
    AF465942 Genomic DNA. Translation: AAN14559.1 .
    AF465945 Genomic DNA. Translation: AAN14592.1 .
    AF465946 Genomic DNA. Translation: AAN14603.1 .
    AF465947 Genomic DNA. Translation: AAN14614.1 .
    AF465948 Genomic DNA. Translation: AAN14625.1 .
    AF465949 Genomic DNA. Translation: AAN14636.1 .
    AF465953 Genomic DNA. Translation: AAN14680.1 .
    AF465956 Genomic DNA. Translation: AAN14713.1 .
    AF465968 Genomic DNA. Translation: AAN14845.1 .
    AF465971 Genomic DNA. Translation: AAN14878.1 .
    AF465972 Genomic DNA. Translation: AAN14889.1 .
    AF465973 Genomic DNA. Translation: AAN14900.1 .
    AF465974 Genomic DNA. Translation: AAN14911.1 .
    AF465975 Genomic DNA. Translation: AAN14922.1 .
    AF465977 Genomic DNA. Translation: AAN14944.1 .
    M28016 mRNA. Translation: AAA31851.1 .
    PIRi A00151. CBHU.
    RefSeqi YP_003024038.1. NC_012920.1.

    3D structure databases

    ProteinModelPortali P00156.
    SMRi P00156. Positions 15-379.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110619. 1 interaction.
    IntActi P00156. 1 interaction.

    Chemistry

    DrugBanki DB01117. Atovaquone.

    PTM databases

    PhosphoSitei P00156.

    Polymorphism databases

    DMDMi 408360043.

    Proteomic databases

    MaxQBi P00156.
    PaxDbi P00156.
    PRIDEi P00156.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000361789 ; ENSP00000354554 ; ENSG00000198727 .
    GeneIDi 4519.
    KEGGi hsa:4519.

    Organism-specific databases

    CTDi 4519.
    GeneCardsi GCMTP014749.
    GeneReviewsi MT-CYB.
    HGNCi HGNC:7427. MT-CYB.
    HPAi CAB032215.
    MIMi 500000. phenotype.
    516020. gene.
    535000. phenotype.
    neXtProti NX_P00156.
    Orphaneti 137675. Histiocytoid cardiomyopathy.
    1460. Isolated CoQ-cytochrome C reductase deficiency.
    104. Leber hereditary optic neuropathy.
    PharmGKBi PA31234.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1290.
    HOVERGENi HBG017694.
    InParanoidi P00156.
    KOi K00412.
    OMAi NTINQIF.
    OrthoDBi EOG7BGHKX.
    PhylomeDBi P00156.
    TreeFami TF353088.

    Enzyme and pathway databases

    Reactomei REACT_22393. Respiratory electron transport.

    Miscellaneous databases

    GeneWikii MT-CYB.
    NextBioi 17445.
    PROi P00156.
    SOURCEi Search...

    Gene expression databases

    Genevestigatori P00156.

    Family and domain databases

    Gene3Di 1.20.810.10. 1 hit.
    InterProi IPR005798. Cyt_b/b6_C.
    IPR005797. Cyt_b/b6_N.
    IPR027387. Cytb/b6-like.
    IPR016174. Di-haem_cyt_TM.
    [Graphical view ]
    Pfami PF00032. Cytochrom_B_C. 1 hit.
    PF13631. Cytochrom_B_N_2. 1 hit.
    [Graphical view ]
    SUPFAMi SSF81342. SSF81342. 1 hit.
    SSF81648. SSF81648. 1 hit.
    PROSITEi PS51003. CYTB_CTER. 1 hit.
    PS51002. CYTB_NTER. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
      Tissue: Placenta.
    2. "Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA."
      Andrews R.M., Kubacka I., Chinnery P.F., Lightowlers R.N., Turnbull D.M., Howell N.
      Nat. Genet. 23:147-147(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: SEQUENCE REVISION TO 7.
    3. "Novel mutations in mitochondrial cytochrome b in fatal post partum cardiomyopathy."
      Marin-Garcia J., Ananthakrishnan R., Gonzalvo A., Goldenthal M.J.
      J. Inherit. Metab. Dis. 18:77-78(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ILE-7 AND CARDIOMYOPATHY HIS-255.
      Tissue: Heart.
    4. "Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs."
      Horai S., Hayasaka K., Kondo R., Tsugane K., Takahata N.
      Proc. Natl. Acad. Sci. U.S.A. 92:532-536(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ILE-7; THR-191; ALA-194 AND THR-229.
      Tissue: Placenta.
    5. "Mitochondrial genome variation and the origin of modern humans."
      Ingman M., Kaessmann H., Paeaebo S., Gyllensten U.
      Nature 408:708-713(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; SER-8; LEU-18; VAL-39; THR-78; THR-122; ALA-123; THR-153; ALA-194; THR-229; ILE-236; THR-306; THR-329; VAL-334; MET-353; MET-356 AND ILE-368.
    6. "Major genomic mitochondrial lineages delineate early human expansions."
      Maca-Meyer N., Gonzalez A.M., Larruga J.M., Flores C., Cabrera V.M.
      BMC Genet. 2:13-13(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; SER-8; LEU-18; THR-122; VAL-164; 189-VAL-THR-190; ALA-194; THR-229; ILE-236; THR-330; ALA-360 AND ILE-368.
    7. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; THR-39; VAL-78; THR-191; ALA-194 AND ASP-260.
    8. "Serendipitous cloning of a mitochondrial cDNA and its polymorphism."
      Spurr N.K., Bodmer W.F.
      Mol. Biol. Med. 2:239-249(1984) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 269-380.
      Tissue: Lymphoblast.
    9. "Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene."
      Keightley J.A., Anitori R., Burton M.D., Quan F., Buist N.R.M., Kennaway N.G.
      Am. J. Hum. Genet. 67:1400-1410(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: DISEASE.
    10. "Normal variants of human mitochondrial DNA and translation products: the building of a reference data base."
      Marzuki S., Noer A.S., Lertrit P., Thyagarajan D., Kapsa R., Utthanaphol P., Byrne E.
      Hum. Genet. 88:139-145(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ILE-7 AND PRO-87.
    11. "Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy."
      Brown M.D., Voljavec A.S., Lott M.T., Torroni A., Yang C.C., Wallace D.C.
      Genetics 130:163-173(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS LHON ASN-171 AND MET-356.
    12. "A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance."
      Dumoulin R., Sagnol I., Ferlin T., Bozon D., Stepien G., Mousson B.
      Mol. Cell. Probes 10:389-391(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EXERCISE INTOLERANCE ASP-290.
    13. Cited for: VARIANT MM GLU-339.
    14. "Somatic mutations of the mitochondrial genome in human colorectal tumours."
      Polyak K., Li Y., Zhu H., Lengauer C., Willson J.K.V., Markowitz S.D., Trush M.A., Kinzler K.W., Vogelstein B.
      Nat. Genet. 20:291-293(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS COLORECTAL CANCER HIS-80 AND LEU-276.
    15. "A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency."
      Valnot I., Kassis J., Chretien D., de Lonlay P., Parfait B., Munnich A., Kachaner J., Rustin P., Roetig A.
      Hum. Genet. 104:460-466(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HCM GLU-166, VARIANTS ILE-7; SER-8; LEU-18; ALA-194; ILE-236 AND THR-316.
    16. Cited for: VARIANTS MM SER-34 AND 251-GLY--LEU-258 DEL.
    17. "A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy."
      Andreu A.L., Checcarelli N., Iwata S., Shanske S., DiMauro S.
      Pediatr. Res. 48:311-314(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CMIH ASP-251.
    18. "Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene."
      Wibrand F., Ravn K., Schwartz M., Rosenberg T., Horn N., Vissing J.
      Ann. Neurol. 50:540-543(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MULTISYSTEM DISORDER CYS-278.
    19. "Functional characterization of novel mutations in the human cytochrome b gene."
      Legros F., Chatzoglou E., Frachon P., de Baulny H.O., Laforet P., Jardel C., Godinot C., Lombes A.
      Eur. J. Hum. Genet. 9:510-518(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EXERCISE INTOLERANCE PRO-151.
    20. "Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation."
      Schuelke M., Krude H., Finckh B., Mayatepek E., Janssen A., Schmelz M., Trefz F., Trijbels F., Smeitink J.
      Ann. Neurol. 51:388-392(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EXERCICE INTOLERANCE PRO-35.
    21. "Association of the mitochondrial DNA 15497G/A polymorphism with obesity in a middle-aged and elderly Japanese population."
      Okura T., Koda M., Ando F., Niino N., Tanaka M., Shimokata H.
      Hum. Genet. 113:432-436(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SER-251.
    22. Cited for: VARIANT [LARGE SCALE ANALYSIS] ILE-7, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiCYB_HUMAN
    AccessioniPrimary (citable) accession number: P00156
    Secondary accession number(s): Q34786
    , Q8HBR6, Q8HNQ0, Q8HNQ1, Q8HNQ9, Q8HNR4, Q8HNR7, Q8W7V8, Q8WCV9, Q8WCY2, Q8WCY7, Q8WCY8, Q9B1A6, Q9B1B6, Q9B1B8, Q9B1D4, Q9B1X6, Q9B2V0, Q9B2V8, Q9B2W0, Q9B2W3, Q9B2W8, Q9B2X1, Q9B2X7, Q9B2X9, Q9B2Y3, Q9B2Z0, Q9B2Z4, Q9T6H6, Q9T9Y0, Q9TEH4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 21, 1986
    Last sequence update: October 3, 2012
    Last modified: October 1, 2014
    This is version 165 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Miscellaneous

    Heme 1 (or BL or b562) is low-potential and absorbs at about 562 nm, and heme 2 (or BH or b566) is high-potential and absorbs at about 566 nm.By similarity

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    2. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    3. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3