Aliases for MT-CYB Gene

Aliases for MT-CYB Gene

  • Mitochondrially Encoded Cytochrome B 2 5
  • Cytochrome B 2 3 4
  • CYTB 2 3 4
  • MTCYB 3 4
  • COB 2 4
  • Ubiquinol-Cytochrome-C Reductase Complex Cytochrome B Subunit 4
  • Cytochrome B-C1 Complex Subunit 3 4
  • Complex III Subunit III 4
  • Complex III Subunit 3 4
  • MT-CYB 5
  • UQCR3 2

External Ids for MT-CYB Gene

Previous HGNC Symbols for MT-CYB Gene

  • MTCYB

Previous GeneCards Identifiers for MT-CYB Gene

  • GC00U921586

Summaries for MT-CYB Gene

GeneCards Summary for MT-CYB Gene

MT-CYB (Mitochondrially Encoded Cytochrome B) is a Protein Coding gene. Diseases associated with MT-CYB include Mitochondrial Encephalomyopathy and Mitochondrial Myopathy, Infantile, Transient. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Cardiac muscle contraction. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and ubiquinol-cytochrome-c reductase activity.

UniProtKB/Swiss-Prot Summary for MT-CYB Gene

  • Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis.

Gene Wiki entry for MT-CYB Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MT-CYB Gene

Genomics for MT-CYB Gene

Genomic Locations for MT-CYB Gene

Genomic Locations for MT-CYB Gene
chrMT:14,747-15,887
(GRCh38/hg38)
Size:
1,141 bases
Orientation:
Plus strand
chrMT:14,747-15,887
(GRCh37/hg19)
Size:
1,141 bases
Orientation:
Plus strand

Genomic View for MT-CYB Gene

Genes around MT-CYB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-CYB Gene

No data available for GeneHancer (GH) Regulatory Elements for MT-CYB Gene

Proteins for MT-CYB Gene

  • Protein details for MT-CYB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00156-CYB_HUMAN
    Recommended name:
    Cytochrome b
    Protein Accession:
    P00156
    Secondary Accessions:
    • 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

    Protein attributes for MT-CYB Gene

    Size:
    380 amino acids
    Molecular mass:
    42718 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    • The cytochrome bc1 complex contains 11 subunits: 3 respiratory subunits (MT-CYB, CYC1 and UQCRFS1), 2 core proteins (UQCRC1 and UQCRC2) and 6 low-molecular weight proteins (UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9, UQCR11/QCR10 and a cleavage product of UQCRFS1). This cytochrome bc1 complex then forms a dimer.
    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.

    Three dimensional structures from OCA and Proteopedia for MT-CYB Gene

neXtProt entry for MT-CYB Gene

Post-translational modifications for MT-CYB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MT-CYB Gene

ENSEMBL proteins:

No data available for DME Specific Peptides for MT-CYB Gene

Domains & Families for MT-CYB Gene

Protein Domains for MT-CYB Gene

Suggested Antigen Peptide Sequences for MT-CYB Gene

GenScript: Design optimal peptide antigens:
  • Cytochrome b (A0JI59_HUMAN)
  • Cytochrome b (A0S2J8_HUMAN)
  • Cytochrome b (A0S330_HUMAN)
  • Cytochrome b (A0S3I6_HUMAN)
  • Cytochrome b (A0S4I7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P00156

UniProtKB/Swiss-Prot:

CYB_HUMAN :
  • Belongs to the cytochrome b family.
Family:
  • Belongs to the cytochrome b family.
genes like me logo Genes that share domains with MT-CYB: view

Function for MT-CYB Gene

Molecular function for MT-CYB Gene

UniProtKB/Swiss-Prot Function:
Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis.

Gene Ontology (GO) - Molecular Function for MT-CYB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008121 ubiquinol-cytochrome-c reductase activity NAS 6100559
GO:0009055 electron transfer activity IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0044877 protein-containing complex binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MT-CYB: view

Human Phenotype Ontology for MT-CYB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Phenotypes , Animal Models , Transcription Factor Targets and HOMER Transcription for MT-CYB Gene

Localization for MT-CYB Gene

Subcellular locations from UniProtKB/Swiss-Prot for MT-CYB Gene

Mitochondrion inner membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MT-CYB gene
Compartment Confidence
mitochondrion 5
plasma membrane 4
nucleus 3
extracellular 2
cytoskeleton 2
peroxisome 2
endoplasmic reticulum 2
cytosol 2
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MT-CYB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,HDA 20833797
GO:0005743 mitochondrial inner membrane TAS --
GO:0005750 mitochondrial respiratory chain complex III NAS 6100559
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MT-CYB: view

Pathways & Interactions for MT-CYB Gene

genes like me logo Genes that share pathways with MT-CYB: view

Gene Ontology (GO) - Biological Process for MT-CYB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c NAS,TAS --
GO:0007584 response to nutrient IEA --
GO:0009408 response to heat IEA --
GO:0009636 response to toxic substance IEA --
genes like me logo Genes that share ontologies with MT-CYB: view

No data available for SIGNOR curated interactions for MT-CYB Gene

Drugs & Compounds for MT-CYB Gene

(41) Drugs for MT-CYB Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Atovaquone Approved Pharma Target, inhibitor 49
(5S)-3-ANILINO-5-(2,4-DIFLUOROPHENYL)-5-METHYL-1,3-OXAZOLIDINE-2,4-DIONE Experimental Pharma Target 0
(S)-famoxadone Experimental Pharma Target 0
2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol Experimental Pharma Target 0
2-Nonyl-4-quinolinol 1-oxide Experimental Pharma Target 0

(40) Additional Compounds for MT-CYB Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MT-CYB: view

Transcripts for MT-CYB Gene

mRNA/cDNA for MT-CYB Gene

1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for MT-CYB Gene

No ASD Table

Relevant External Links for MT-CYB Gene

GeneLoc Exon Structure for
MT-CYB

Expression for MT-CYB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MT-CYB Gene

mRNA differential expression in normal tissues according to GTEx for MT-CYB Gene

This gene is overexpressed in Heart - Left Ventricle (x4.3).

Protein differential expression in normal tissues from HIPED for MT-CYB Gene

This gene is overexpressed in Heart (16.5) and Retina (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MT-CYB Gene



Protein tissue co-expression partners for MT-CYB Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MT-CYB

Evidence on tissue expression from TISSUES for MT-CYB Gene

  • Heart(4.9)
  • Blood(4.6)
  • Muscle(4.4)
  • Skin(4.3)
  • Liver(4.2)
  • Kidney(4.2)
  • Nervous system(4)
  • Adrenal gland(3.9)
  • Intestine(3.9)
  • Stomach(3.8)
  • Lung(3.8)
  • Pancreas(3.8)
  • Spleen(3.6)
  • Bone marrow(3.6)
  • Thyroid gland(3.6)
  • Lymph node(3.5)
  • Gall bladder(3.4)
  • Bone(2.2)
  • Eye(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MT-CYB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • larynx
  • meninges
  • mouth
  • neck
  • nose
  • skull
  • tongue
  • vocal cord
Thorax:
  • heart
  • heart valve
  • lung
Abdomen:
  • abdominal wall
  • adrenal gland
  • biliary tract
  • gallbladder
  • kidney
  • liver
  • pancreas
Pelvis:
  • testicle
Limb:
  • arm
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with MT-CYB: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for MT-CYB Gene

Orthologs for MT-CYB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MT-CYB Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MT-CYB 31
  • 93 (a)
OneToOne
CYTB 30
  • 88.42 (n)
Dog
(Canis familiaris)
Mammalia MT-CYB 31
  • 83 (a)
OneToOne
CYTB 30
  • 74.76 (n)
Cow
(Bos Taurus)
Mammalia MT-CYB 31
  • 79 (a)
OneToOne
CYTB 30
  • 73 (n)
Mouse
(Mus musculus)
Mammalia mt-Cytb 17 31
  • 78 (a)
OneToOne
CYTB 30
  • 74.87 (n)
Oppossum
(Monodelphis domestica)
Mammalia CYTB 31
  • 76 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia CYTB 30
  • 75.99 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia CYTB 31
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CYTB 30
  • 73.4 (n)
MT-CYB 31
  • 72 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CYTB 31
  • 71 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia CYTB 30
  • 71.77 (n)
Str.8624 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.24968 30
Zebrafish
(Danio rerio)
Actinopterygii mt-cyb 31
  • 70 (a)
OneToOne
CYTB 30
  • 69.04 (n)
Dr.29626 30
Fruit Fly
(Drosophila melanogaster)
Insecta CYTB 30
  • 60.04 (n)
mt:Cyt-b 31
  • 60 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta CYTB 30
  • 59.66 (n)
Worm
(Caenorhabditis elegans)
Secernentea ctb-1 31
  • 43 (a)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AMI008W 30
  • 53.96 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes CYTB 30
  • 53.53 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COB 30 31 33
  • 52.15 (n)
OneToMany
BI4 31
  • 24 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons cob 30
  • 52.03 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cob 30
  • 52.1 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 51 (a)
OneToOne
Species where no ortholog for MT-CYB was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MT-CYB Gene

ENSEMBL:
Gene Tree for MT-CYB (if available)
TreeFam:
Gene Tree for MT-CYB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MT-CYB: view image

Paralogs for MT-CYB Gene

(6) SIMAP similar genes for MT-CYB Gene using alignment to 1 proteins:

  • CYB_HUMAN
genes like me logo Genes that share paralogs with MT-CYB: view

No data available for Paralogs for MT-CYB Gene

Variants for MT-CYB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MT-CYB Gene

SNP ID Clinical significance and condition Chr MT pos Variation AA Info Type
693753 Uncertain Significance: Leigh syndrome 14,748(+) T/C INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT
693754 Benign: Leigh syndrome 14,750(+) A/G MISSENSE_VARIANT
693755 Likely Benign: Leigh syndrome 14,750(+) A/T MISSENSE_VARIANT
693756 Benign: Leigh syndrome 14,751(+) C/T MISSENSE_VARIANT
693757 Benign: Leigh syndrome 14,757(+) T/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for MT-CYB Gene

Additional Variant Information for MT-CYB Gene

Human Gene Mutation Database (HGMD)
MT-CYB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MT-CYB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for MT-CYB Gene

Disorders for MT-CYB Gene

MalaCards: The human disease database

(82) MalaCards diseases for MT-CYB Gene - From: UniProtKB/Swiss-Prot, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial encephalomyopathy
  • mitochondrial encephalomyopathies
mitochondrial myopathy, infantile, transient
  • mmit
cardiomyopathy, infantile histiocytoid
  • cardiomyopathy, infantile xanthomatous
isolated complex iii deficiency
  • isolated coq-cytochrome c reductase deficiency
leber optic atrophy
  • leber optic atrophy, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CYB_HUMAN
  • Note=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). {ECO:0000269 PubMed:11047755, ECO:0000269 PubMed:11601507}.
  • 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. {ECO:0000269 PubMed:10960495}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:1732158}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry.

Additional Disease Information for MT-CYB

genes like me logo Genes that share disorders with MT-CYB: view

No data available for Genatlas for MT-CYB Gene

Publications for MT-CYB Gene

  1. The mtDNA 15497 G/A polymorphism in cytochrome b in severe obese subjects from Southern Italy. (PMID: 17015183) Liguori R … Sacchetti L (Nutrition, metabolism, and cardiovascular diseases : NMCD 2006) 3 23 41
  2. Interaction of mitochondrial thioredoxin with glucocorticoid receptor and NF-kappaB modulates glucocorticoid receptor and NF-kappaB signalling in HEK-293 cells. (PMID: 19570036) Psarra AM … Spyrou G (The Biochemical journal 2009) 3 23
  3. The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriers. (PMID: 14735157) Haut S … Slama A (European journal of human genetics : EJHG 2004) 3 23
  4. Golden mean to longevity: rareness of mitochondrial cytochrome b variants in centenarians but not in patients with Parkinson's disease. (PMID: 12391595) Tanaka M … Yagi K (Journal of neuroscience research 2002) 3 41
  5. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. (PMID: 10508508) Andrews RM … Howell N (Nature genetics 1999) 3 4

Products for MT-CYB Gene

Sources for MT-CYB Gene