COX7A1 cytochrome c oxidase subunit 7A1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: COX7A1provided by HGNC
Official Full Name: cytochrome c oxidase subunit 7A1provided by HGNC
Primary source: HGNC:HGNC:2287
See related: Ensembl:ENSG00000161281 MIM:123995; AllianceGenome:HGNC:2287
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: COX7A; COX7AH; COX7AM
Summary: Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (muscle isoform) of subunit VIIa and the polypeptide 1 is present only in muscle tissues. Other polypeptides of subunit VIIa are present in both muscle and nonmuscle tissues, and are encoded by different genes. [provided by RefSeq, Jul 2008]
Expression: Biased expression in heart (RPKM 146.2), fat (RPKM 68.9) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.12

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (36150922..36152447, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (38696740..38698266, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (36641824..36643349, complement)

Chromosome 19 - NC_000019.10 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

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

COX7A1 enhances the sensitivity of human NSCLC cells to cystine deprivation-induced ferroptosis via regulating mitochondrial metabolism.
Title: COX7A1 enhances the sensitivity of human NSCLC cells to cystine deprivation-induced ferroptosis via regulating mitochondrial metabolism.
COX7A1 is a novel gene that might play a crucial role in the etiology of lung adenocarcinoma and can serve as a biomarker for lung cancer disease progression
Title: Downregulation of cytochrome c oxidase subunit 7A1 expression is important in enhancing cell proliferation in adenocarcinoma cells.
We demonstrate a developmental isoform switch of COX6A and COX7A subunits in human and mouse skeletal muscle
Title: Investigating the role of the physiological isoform switch of cytochrome c oxidase subunits in reversible mitochondrial disease.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Data found that subunits Cox6a, Cox6b and Cox7a assembled into pre-existing complex IV, while Cox4-1 and Cox6c subunits assembled into subcomplexes that may represent rate-limiting intermediates.
Title: Assembly of nuclear DNA-encoded subunits into mitochondrial complex IV, and their preferential integration into supercomplex forms in patient mitochondria.
While DNA methylation of the COX7A1 promoter was increased in muscle from elderly compared with young twins, the opposite was found for COX7A1 mRNA expression
Title: Age influences DNA methylation and gene expression of COX7A1 in human skeletal muscle.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
promoter contains and is regulated by sequence elements typical of contractile muscle as well as the element for the common transcription factor Sp1
Title: Genomic organization and promoter regulation of human cytochrome c oxidase subunit VII heart/muscle isoform (COX7AH).

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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

Variation

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See variants in ClinVar

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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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytochrome-c oxidase activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in generation of precursor metabolites and energy	TAS Traceable Author Statement more info	PubMed
involved_in mitochondrial electron transport, cytochrome c to oxygen	IEA Inferred from Electronic Annotation more info
involved_in mitochondrial respirasome assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of oxidative phosphorylation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in mitochondrial respirasome	IBA Inferred from Biological aspect of Ancestor more info
part_of mitochondrial respiratory chain complex IV	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: cytochrome c oxidase subunit 7A1, mitochondrial

Names: cytochrome c oxidase subunit VIIa polypeptide 1 (muscle); cytochrome c oxidase subunit VIIa-H; cytochrome c oxidase subunit VIIa-M; cytochrome c oxidase subunit VIIa-heart; cytochrome c oxidase subunit VIIa-muscle

NP_001855.1

EC 7.1.1.9

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001864.4 → NP_001855.1 cytochrome c oxidase subunit 7A1, mitochondrial precursor

See identical proteins and their annotated locations for NP_001855.1

Status: REVIEWED

Source sequence(s)

BC002757

Consensus CDS

CCDS12490.1

UniProtKB/Swiss-Prot

P24310

UniProtKB/TrEMBL

H6SG12, Q6FGI7

Related

ENSP00000292907.3, ENST00000292907.8

Conserved Domains (1) summary

cd00928
Location:22 → 76

Cyt_c_Oxidase_VIIa; Cytochrome c oxidase subunit VIIa. Cytochrome c oxidase (CcO), the terminal oxidase in the respiratory chains of eukaryotes and most bacteria, is a multi-chain transmembrane protein located in the inner membrane of mitochondria and the cell membrane of ...