COX7C cytochrome c oxidase subunit 7C [Homo sapiens (human)] - Gene

Summary

Official Symbol: COX7Cprovided by HGNC
Official Full Name: cytochrome c oxidase subunit 7Cprovided by HGNC
Primary source: HGNC:HGNC:2292
See related: Ensembl:ENSG00000127184 MIM:603774; AllianceGenome:HGNC:2292
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
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 subunit VIIc, which shares 87% and 85% amino acid sequence identity with mouse and bovine COX VIIc, respectively, and is found in all tissues. A pseudogene COX7CP1 has been found on chromosome 13. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in kidney (RPKM 507.5), heart (RPKM 430.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q14.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (86617941..86620962)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (87100950..87103971)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (85913758..85916779)

Chromosome 5 - NC_000005.10 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?

The expression level of COX7C associates with venous thromboembolism in colon cancer patients.
Title: The expression level of COX7C associates with venous thromboembolism in colon cancer patients.

Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Genome-wide association study identifies loci affecting blood copper, selenium and zinc. EBI GWAS Catalog EBI GWAS CatalogPubMed

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
capsid	gag	The interaction of HIV-1 CA with human cellular cytochrome c oxidase subunit VIIc protein (COX7C) is identified by yeast two-hybrid screen	PubMed

Go to the HIV-1, Human Interaction Database

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 protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular respiration	NAS Non-traceable Author Statement more info	PubMed
involved_in generation of precursor metabolites and energy	TAS Traceable Author Statement more info	PubMed
involved_in mitochondrial electron transport, cytochrome c to oxygen	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial electron transport, cytochrome c to oxygen	NAS Non-traceable Author Statement more info	PubMed

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	HDA more info	PubMed
located_in mitochondrion	HTP more info	PubMed
part_of respiratory chain complex IV	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: cytochrome c oxidase subunit 7C, mitochondrial

Names: cytochrome c oxidase polypeptide VIIc; cytochrome c oxidase subunit VIIc; cytochrome-c oxidase chain VIIc

NP_001858.1

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_001867.3 → NP_001858.1 cytochrome c oxidase subunit 7C, mitochondrial precursor

See identical proteins and their annotated locations for NP_001858.1

Status: REVIEWED

Source sequence(s)

AC108110, BC001005

Consensus CDS

CCDS4063.1

UniProtKB/Swiss-Prot

P15954, Q6NR81

UniProtKB/TrEMBL

D6R9Z7

Related

ENSP00000247655.3, ENST00000247655.4

Conserved Domains (1) summary

cd00929
Location:17 → 62

Cyt_c_Oxidase_VIIc; Cytochrome c oxidase subunit VIIc. 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 ...