MT-CO1 mitochondrially encoded cytochrome c oxidase I [Homo sapiens (human)] - Gene

Summary

Official Symbol: MT-CO1provided by HGNC
Official Full Name: mitochondrially encoded cytochrome c oxidase Iprovided by HGNC
Primary source: HGNC:HGNC:7419
See related: MIM:516030; AllianceGenome:HGNC:7419
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: COI; MTCO1; COX1
Summary: Contributes to cytochrome-c oxidase activity. Predicted to be involved in aerobic respiration; positive regulation of vasoconstriction; and respiratory electron transport chain. Located in mitochondrion. Part of mitochondrial membrane and respiratory chain complex IV. [provided by Alliance of Genome Resources, Dec 2024]
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Genomic context

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	MT (non-nuclear)	NC_012920.1 (5904..7445)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	MT (non-nuclear)	NC_012920.1 (5904..7445)

Chromosome MT - NC_012920.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Molecular characterization and haplotypes of hydatid cyst isolates collected from humans and ruminants in Setif Province (northeast of Algeria) based on mitochondrial cytochrome C oxidase subunit 1 (mt-CO1) gene sequences.
Title: Molecular characterization and haplotypes of hydatid cyst isolates collected from humans and ruminants in Setif Province (northeast of Algeria) based on mitochondrial cytochrome C oxidase subunit 1 (mt-CO1) gene sequences.
15-lipoxygenase and cyclooxygenase expression profile and their related modulators in COVID-19 infection.
Title: 15-lipoxygenase and cyclooxygenase expression profile and their related modulators in COVID-19 infection.
Thymidine Kinase 2 and Mitochondrial Protein COX I in the Cerebellum of Patients with Spinocerebellar Ataxia Type 31 Caused by Penta-nucleotide Repeats (TTCCA)n.
Title: Thymidine Kinase 2 and Mitochondrial Protein COX I in the Cerebellum of Patients with Spinocerebellar Ataxia Type 31 Caused by Penta-nucleotide Repeats (TTCCA)(n).
Smart Nano-PROTACs Reprogram Tumor Microenvironment for Activatable Photo-metabolic Cancer Immunotherapy.
Title: Smart Nano-PROTACs Reprogram Tumor Microenvironment for Activatable Photo-metabolic Cancer Immunotherapy.
Novel Mutations of mtDNA m.14568G>A/m.14568C>T in MT-ND6 and m.7299A>G in MT-CO1: Evidence of Pathogenicity in Leber Hereditary Optic Neuropathy.
Title: Novel Mutations of mtDNA m.14568G>A/m.14568C>T in MT-ND6 and m.7299A>G in MT-CO1: Evidence of Pathogenicity in Leber Hereditary Optic Neuropathy.
G6036A substitution in mitochondrial COX I gene compromises cytochrome c oxidase activity in thiamine responsive Leigh syndrome patients.
Title: G6036A substitution in mitochondrial COX I gene compromises cytochrome c oxidase activity in thiamine responsive Leigh syndrome patients.
the present study provides novel insights into the functional role of somatic mutations within MT-CO1 promoting cancer phenotype.
Title: Role of ectopically expressed mtDNA encoded cytochrome c oxidase subunit I (MT-COI) in tumorigenesis.
Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1.
Title: Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1.
Determined by the COXI variant.
Title: Liability of sepsis is hardly determined by the COXI variant m.6459T>C.
COX-1, COX-2, and CD147 appear to be independently regulated in oral squamous cell carcinoma (OSCC), potentially representing 2 therapeutic targets for future investigation. COX-1 expression in OSCC deserves further study because it may be an important determinant of PGE2 secretion from OSCC cells
Title: Cyclooxygenase and CD147 expression in oral squamous cell carcinoma patient samples and cell lines.

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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
Mitochondrial non-syndromic sensorineural hearing loss MedGen: C3151897 OMIM: 500008 GeneReviews: Nonsyndromic Hearing Loss and Deafness, Mitochondrial, Genetic Hearing Loss Overview	Compare labs
MELAS syndrome MedGen: C0162671 OMIM: 540000 GeneReviews: Primary Mitochondrial Disorders Overview, MELAS	Compare labs

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Tat-induced mitochondrial membrane permeabilization is associated with inhibition of cytochrome c oxidase (COX) activity by Tat in disrupted mitochondria from human samples	PubMed

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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

D17S813E (e-PCR)
- UniSTS:92461

PMC20756P1 (e-PCR)
- UniSTS:271961

PMC20756P3 (e-PCR)
- UniSTS:271963

RH98513 (e-PCR)
- UniSTS:83580

D1S2077E (e-PCR)
- UniSTS:151716

PMC55343P1 (e-PCR)
- UniSTS:273322

PMC55343P2 (e-PCR)
- UniSTS:273325

PMC55343P3 (e-PCR)
- UniSTS:273326

PMC113853P1 (e-PCR)
- UniSTS:270258

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to cytochrome-c oxidase activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to cytochrome-c oxidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables heme binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in aerobic respiration	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular respiration	NAS Non-traceable Author Statement more info	PubMed
involved_in cerebellum development	IEA Inferred from Electronic Annotation more info
involved_in mitochondrial electron transport, cytochrome c to oxygen	NAS Non-traceable Author Statement more info	PubMed
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in respiratory electron transport chain	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to copper ion	IEA Inferred from Electronic Annotation more info
involved_in response to electrical stimulus	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to oxidative stress	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
located_in mitochondrial membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed
part_of respiratory chain complex IV	IBA Inferred from Biological aspect of Ancestor more info
part_of respiratory chain complex IV	IDA Inferred from Direct Assay more info	PubMed
part_of respiratory chain complex IV	IMP Inferred from Mutant Phenotype more info	PubMed