MT-CYB mitochondrially encoded cytochrome b [Homo sapiens (human)] - Gene

Summary

Official Symbol: MT-CYBprovided by HGNC
Official Full Name: mitochondrially encoded cytochrome bprovided by HGNC
Primary source: HGNC:HGNC:7427
See related: MIM:516020; AllianceGenome:HGNC:7427
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MTCYB; CYTB
Summary: Predicted to enable metal ion binding activity. Predicted to be involved in several processes, including electron transport coupled proton transport; response to cobalamin; and response to glucagon. Located in mitochondrion. Implicated in ovarian carcinoma and urinary bladder cancer. [provided by Alliance of Genome Resources, Apr 2022]
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Genomic context

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	MT (non-nuclear)	NC_012920.1 (14747..15887)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	MT (non-nuclear)	NC_012920.1 (14747..15887)

Chromosome MT - NC_012920.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Single nucleotide polymorphism rs527236194 of the cytochrome B gene (MT-CYB) is associated with alterations in sperm parameters.
Title: Single nucleotide polymorphism rs527236194 of the cytochrome B gene (MT-CYB) is associated with alterations in sperm parameters.
Mitochondrial Genome-Encoded Long Noncoding RNA Cytochrome B and Mitochondrial Dysfunction in Diabetic Retinopathy.
Title: Mitochondrial Genome-Encoded Long Noncoding RNA Cytochrome B and Mitochondrial Dysfunction in Diabetic Retinopathy.
Association between the single nucleotide variants of the mitochondrial cytochrome B gene (MT-CYB) and the male infertility.
Title: Association between the single nucleotide variants of the mitochondrial cytochrome B gene (MT-CYB) and the male infertility.
Liver mitochondrial DNA damage and genetic variability of Cytochrome b - a key component of the respirasome - drive the severity of fatty liver disease.
Title: Liver mitochondrial DNA damage and genetic variability of Cytochrome b - a key component of the respirasome - drive the severity of fatty liver disease.
The heteroplasmy level of some mutations in gene MT-CYB among women with asymptomatic atherosclerosis
Title: [The heteroplasmy level of some mutations in gene MT-CYB among women with asymptomatic atherosclerosis].
The effects of mutation in mitochondrially encoded cytochrome b are reviewed.
Title: [Molecular effects of mitochondrial mutations in cytochrome b of complex III and their impact on the levels of free radical production].
Mitochondrial mutation m.15804T>C in the mtCYB gene in a family with fibromyalgia is associated with NLRP3-inflammasome activation.
Title: Mutation in cytochrome b gene of mitochondrial DNA in a family with fibromyalgia is associated with NLRP3-inflammasome activation.
These results indicate that miR-151a-5p may participate in the regulation of cellular respiration and ATP production through targeting Cytb.
Title: Mitochondria-related miR-151a-5p reduces cellular ATP production by targeting CYTB in asthenozoospermia.
This study suggests that, in part, polymorphisms in the MT-ATP6 and MT-CYB genes may contribute to the unexpected fertilization failure.
Title: Polymorphisms in the MT-ATP6 and MT-CYB genes in in vitro fertilization failure.
The polymorphisms of CYTB as a very useful DNA marker were significantly different between different geographical Uyghur
Title: Genetic diversities of cytochrome B in Xinjiang Uyghur unveiled its origin and migration history.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Leber optic atrophy MedGen: C0917796 OMIM: 535000 GeneReviews: Leber Hereditary Optic Neuropathy, Primary Mitochondrial Disorders Overview	Compare labs
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke MedGen: C0162671 OMIM: 540000 GeneReviews: Primary Mitochondrial Disorders Overview, MELAS	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

See SNP Geneview Report

Pathways from PubChem

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S2076E (e-PCR)
- UniSTS:151706

GDB:451664 (e-PCR)
- UniSTS:157340

PMC55343P10 (e-PCR)
- UniSTS:273323

PMC55343P12 (e-PCR)
- UniSTS:273324

PMC55343P9 (e-PCR)
- UniSTS:273332

D5S1608E (e-PCR)
- UniSTS:151029

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
contributes_to ubiquinol-cytochrome-c reductase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquinol-cytochrome-c reductase activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in animal organ regeneration	IEA Inferred from Electronic Annotation more info
involved_in cellular respiration	NAS Non-traceable Author Statement more info	PubMed
involved_in electron transport coupled proton transport	IEA Inferred from Electronic Annotation more info
involved_in mitochondrial electron transport, ubiquinol to cytochrome c	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial electron transport, ubiquinol to cytochrome c	NAS Non-traceable Author Statement more info	PubMed
involved_in response to cadmium ion	IEA Inferred from Electronic Annotation more info
involved_in response to calcium ion	IEA Inferred from Electronic Annotation more info
involved_in response to cobalamin	IEA Inferred from Electronic Annotation more info
involved_in response to copper ion	IEA Inferred from Electronic Annotation more info
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in response to glucagon	IEA Inferred from Electronic Annotation more info
involved_in response to hyperoxia	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to mercury ion	IEA Inferred from Electronic Annotation more info
involved_in response to toxic substance	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
part_of mitochondrial respiratory chain complex III	IBA Inferred from Biological aspect of Ancestor more info
part_of mitochondrial respiratory chain complex III	IPI Inferred from Physical Interaction more info	PubMed
part_of mitochondrial respiratory chain complex III	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrion	HDA more info	PubMed