COA6 cytochrome c oxidase assembly factor 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: COA6provided by HGNC
Official Full Name: cytochrome c oxidase assembly factor 6provided by HGNC
Primary source: HGNC:HGNC:18025
See related: Ensembl:ENSG00000168275 MIM:614772; AllianceGenome:HGNC:18025
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: C1orf31; CEMCOX4; MC4DN13
Summary: This gene encodes a member of the cytochrome c oxidase subunit 6B family. The encoded protein associates with cytochrome c oxidase may act has an cytochrome c oxidase mitochondrial respiratory complex VI assembly factor. Mutations in this gene may be associated with fatal infantile cardiomyopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
Expression: Ubiquitous expression in duodenum (RPKM 9.1), colon (RPKM 8.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q42.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (234373456..234385080)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (233763601..233775236)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (234509202..234520826)

Chromosome 1 - NC_000001.11 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 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?

Pan-cancer analysis reveals potential immunological and prognostic roles of COA6 in human cancers and preliminary exploration of COA6 in bladder cancer.
Title: Pan-cancer analysis reveals potential immunological and prognostic roles of COA6 in human cancers and preliminary exploration of COA6 in bladder cancer.
High Expression of COA6 Is Related to Unfavorable Prognosis and Enhanced Oxidative Phosphorylation in Lung Adenocarcinoma.
Title: High Expression of COA6 Is Related to Unfavorable Prognosis and Enhanced Oxidative Phosphorylation in Lung Adenocarcinoma.
What Role Does COA6 Play in Cytochrome C Oxidase Biogenesis: A Metallochaperone or Thiol Oxidoreductase, or Both?
Title: What Role Does COA6 Play in Cytochrome C Oxidase Biogenesis: A Metallochaperone or Thiol Oxidoreductase, or Both?
COA6 Is Structurally Tuned to Function as a Thiol-Disulfide Oxidoreductase in Copper Delivery to Mitochondrial Cytochrome c Oxidase.
Title: COA6 Is Structurally Tuned to Function as a Thiol-Disulfide Oxidoreductase in Copper Delivery to Mitochondrial Cytochrome c Oxidase.
COA6 Facilitates Cytochrome c Oxidase Biogenesis as Thiol-reductase for Copper Metallochaperones in Mitochondria.
Title: COA6 Facilitates Cytochrome c Oxidase Biogenesis as Thiol-reductase for Copper Metallochaperones in Mitochondria.
Data present the crystal structures of human Coa6 and the pathogenic (W59C)Coa6-mutant protein. These structures show that Coa6 has a 3-helical bundle structure, with the first 2 helices tethered by disulfide bonds, one of which likely provides the copper-binding site. Disulfide-mediated oligomerization of the (W59C)Coa6 protein provides a structural explanation for the loss-of-function mutation.
Title: Structural and functional characterization of the mitochondrial complex IV assembly factor Coa6.
Results find that COA6 associates with COX2 and is crucial for its maturation and complex IV biogenesis. Also, COA6 interacts with the copper chaperone SCO1 which indicates that COA6 is intrinsically involved in the copper delivery process for COX2.
Title: COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2.
Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies.
Title: Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies.
Co-purified with C7orf44 (the human ortholog of fungal COX assembly protein)
Title: Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase.
COX assembly candidate, ortholog of fungal YMR244C-A
Title: Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase.

Submit: New GeneRIF Correction See all GeneRIFs (12)

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
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 MedGen: C4225304 OMIM: 616501 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-76585 (e-PCR)
- UniSTS:10680

SHGC-76538 (e-PCR)
- UniSTS:78786

RH103199 (e-PCR)
- UniSTS:97532

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables copper ion binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in mitochondrial ATP synthesis coupled electron transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial ATP synthesis coupled electron transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in plasma membrane ATP synthesis coupled electron transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in respiratory chain complex IV assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in respiratory chain complex IV assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in respiratory chain complex IV assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrial intermembrane space	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: cytochrome c oxidase assembly factor 6 homolog

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_034250.1 RefSeqGene

Range

5020..16644

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001012985.2 → NP_001013003.1 cytochrome c oxidase assembly factor 6 homolog isoform 1

See identical proteins and their annotated locations for NP_001013003.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform (1).

Source sequence(s)

BC116455, BG195363

Consensus CDS

CCDS31059.1

UniProtKB/Swiss-Prot

Q5JTJ2, Q5JTJ3, Q5JTJ4, Q8TA88

Related

ENSP00000355572.1, ENST00000366613.1

Conserved Domains (1) summary

cd00926
Location:29 → 110

Cyt_c_Oxidase_VIb; Cytochrome c oxidase subunit VIb. 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 ...
NM_001206641.3 → NP_001193570.2 cytochrome c oxidase assembly factor 6 homolog isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate 5' most exon which results in the use of an alternate AUG, compared to variant 1. The resulting isoform (2) has a distinct and longer N-terminus, compared to isoform 1.

Source sequence(s)

AL355472, BC035925, BG204581, HY169996

Consensus CDS

CCDS76275.1

UniProtKB/TrEMBL

X6R5Z6

Related

ENSP00000355574.5, ENST00000366615.10

Conserved Domains (1) summary

cd00926
Location:80 → 140

Cyt_c_Oxidase_VIb; Cytochrome c oxidase subunit VIb. 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 ...
NM_001301733.1 → NP_001288662.1 cytochrome c oxidase assembly factor 6 homolog isoform 3

See identical proteins and their annotated locations for NP_001288662.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate 5' structure which results in the use of a downstream AUG compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.

Source sequence(s)

BC064905, BG204581

Consensus CDS

CCDS55690.1

UniProtKB/Swiss-Prot

Q5JTJ3

Related

ENSP00000355571.1, ENST00000366612.1

Conserved Domains (1) summary

cd00926
Location:4 → 64

Cyt_c_Oxidase_VIb; Cytochrome c oxidase subunit VIb. 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 ...