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P00156

- CYB_HUMAN

UniProt

P00156 - CYB_HUMAN

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Protein

Cytochrome b

Gene

MT-CYB

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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

hemeBy similarityNote: 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
Complete GO annotation...

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

Topology

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

GO - Cellular componenti

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

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

ExpressionAtlasiP00156. baseline.
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. 2 interactions.
IntActiP00156. 1 interaction.

Structurei

3D structure databases

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

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

        10         20         30         40         50
MTPMRKTNPL MKLINHSFID LPTPSNISAW WNFGSLLGAC LILQITTGLF
60 70 80 90 100
LAMHYSPDAS TAFSSIAHIT RDVNYGWIIR YLHANGASMF FICLFLHIGR
110 120 130 140 150
GLYYGSFLYS ETWNIGIILL LATMATAFMG YVLPWGQMSF WGATVITNLL
160 170 180 190 200
SAIPYIGTDL VQWIWGGYSV DSPTLTRFFT FHFILPFIIA ALATLHLLFL
210 220 230 240 250
HETGSNNPLG ITSHSDKITF HPYYTIKDAL GLLLFLLSLM TLTLFSPDLL
260 270 280 290 300
GDPDNYTLAN PLNTPPHIKP EWYFLFAYTI LRSVPNKLGG VLALLLSILI
310 320 330 340 350
LAMIPILHMS KQQSMMFRPL SQSLYWLLAA DLLILTWIGG QPVSYPFTII
360 370 380
GQVASVLYFT TILILMPTIS LIENKMLKWA
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. 1 Publication
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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. 2 interactions.
IntActi P00156. 1 interaction.

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

ExpressionAtlasi P00156. baseline.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 167 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