COX6A1 cytochrome c oxidase subunit 6A1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: COX6A1provided by HGNC
Official Full Name: cytochrome c oxidase subunit 6A1provided by HGNC
Primary source: HGNC:HGNC:2277
See related: Ensembl:ENSG00000111775 MIM:602072; AllianceGenome:HGNC:2277
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: COX6A; CMTRID; COX6AL
Summary: Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It 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 the electron transfer and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (liver isoform) of subunit VIa, and polypeptide 1 is found in all non-muscle tissues. Polypeptide 2 (heart/muscle isoform) of subunit VIa is encoded by a different gene, and is present only in striated muscles. These two polypeptides share 66% amino acid sequence identity. It has been reported that there may be several pseudogenes on chromosomes 1, 6, 7q21, 7q31-32 and 12. However, only one pseudogene (COX6A1P) on chromosome 1p31.1 has been documented. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in colon (RPKM 215.0), duodenum (RPKM 185.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q24.31; 12q24.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (120438113..120440730)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (120426035..120428652)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (120875916..120878533)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

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.
Mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.
Title: A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Novel insights into the assembly and function of human nuclear-encoded cytochrome c oxidase subunits 6a
Title: Novel insights into the assembly and function of human nuclear-encoded cytochrome c oxidase subunits 4, 5a, 6a, 7a and 7b.
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.
COX6A1 was identified as the protein that inhibits yeast cells Bax-sensitivity and protects mammalian cells from 4-HPR-induced apoptosis.
Title: Identification of cytochrome c oxidase subunit 6A1 as a suppressor of Bax-induced cell death by yeast-based functional screening.

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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
Charcot-Marie-Tooth disease recessive intermediate D MedGen: C5569027 OMIM: 616039 GeneReviews: Not available	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)

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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Markers

Cox6a1 (e-PCR), detects polymorphism
- UniSTS:141383

G29082 (e-PCR)
- UniSTS:12897

STS-X15341 (e-PCR)
- UniSTS:43378

RH136589 (e-PCR)
- UniSTS:210569

L06465 (e-PCR)
- UniSTS:159431

D1S3336 (e-PCR)
- UniSTS:63709

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables enzyme regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info
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	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info
part_of respiratory chain complex IV	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: cytochrome c oxidase subunit 6A1, mitochondrial

Names: COX VIa-L; cytochrome C oxidase subunit VIa homolog; cytochrome c oxidase polypeptide VIa-liver; cytochrome c oxidase subunit VIA-liver; cytochrome c oxidase subunit VIa liver isoform; cytochrome c oxidase subunit VIa polypeptide 1

NP_004364.2

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.

Genomic

NG_034299.1 RefSeqGene

Range

5024..7641

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004373.4 → NP_004364.2 cytochrome c oxidase subunit 6A1, mitochondrial

See identical proteins and their annotated locations for NP_004364.2

Status: REVIEWED

Source sequence(s)

AK312009, BC107861

Consensus CDS

CCDS9197.1

UniProtKB/Swiss-Prot

B2R500, O43714, P12074, Q32Q37

UniProtKB/TrEMBL

H6SG15

Related

ENSP00000229379.2, ENST00000229379.3

Conserved Domains (1) summary

cd00925
Location:22 → 107

Cyt_c_Oxidase_VIa; Cytochrome c oxidase subunit VIa. 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 ...