COA3 cytochrome c oxidase assembly factor 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: COA3provided by HGNC
Official Full Name: cytochrome c oxidase assembly factor 3provided by HGNC
Primary source: HGNC:HGNC:24990
See related: Ensembl:ENSG00000183978 MIM:614775; AllianceGenome:HGNC:24990
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: COX25; hCOA3; CCDC56; HSPC009; MC4DN14; MITRAC12
Summary: This gene encodes a member of the cytochrome c oxidase assembly factor family. Studies of a related gene in fly suggest that the encoded protein is localized to mitochondria and is essential for cytochrome c oxidase function. [provided by RefSeq, Nov 2012]
Expression: Ubiquitous expression in kidney (RPKM 59.3), duodenum (RPKM 48.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (42797625..42798704, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (43654765..43655844, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (40949643..40950722, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Data suggest that COX assembly factor 3 (hCOA3) is a disordered protein and that the flexibility of hCOA3 is crucial for its interaction with other proteins to favor mitochondrial protein translocation and assembly of proteins involved in the respiratory chain.
Title: Human COA3 Is an Oligomeric Highly Flexible Protein in Solution.
COX14 was undetectable in COA3 subject fibroblasts, and that COA3 was undetectable in fibroblasts from a COX14 subject, demonstrating the interdependence of these two COX assembly factors
Title: Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature.
Data show that mitochondrial protein ccdc56/MITRAC12/COA3 positively regulates mitochondrial fission by recruiting the fission factor Drp1.
Title: COX assembly factor ccdc56 regulates mitochondrial morphology by affecting mitochondrial recruitment of Drp1.
hCOA3 stabilizes COX1 co-translationally and promotes its assembly with COX partner subunits.
Title: hCOA3 stabilizes cytochrome c oxidase 1 (COX1) and promotes cytochrome c oxidase assembly in human mitochondria.
Study comprehensively identified mammalian cytochrome c oxidase assembly factors. These analyses led to the discoveryof MITRAC12, which defines the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase)complexes.
Title: MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation.
Human ortholog of fungal COA3 (Cytochrome oxidase assembly)
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.

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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 complex 4 deficiency, nuclear type 14 MedGen: C5436710 OMIM: 619058 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

RH45445 (e-PCR)
- UniSTS:59661

WI-17766 (e-PCR)
- UniSTS:27301

STS-U18006 (e-PCR)
- UniSTS:14578

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 mitochondrial cytochrome c oxidase assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial cytochrome c oxidase assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mitochondrial translation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in mitochondrial inner membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: cytochrome c oxidase assembly factor 3 homolog, mitochondrial

Names: coiled-coil domain-containing protein 56; cytochrome C oxidase assembly factor 3 homolog, mitochondrial; cytochrome c oxidase assembly protein 3 homolog, mitochondrial; mitochondrial translation regulation assembly intermediate of cytochrome c oxidase protein of 12 kDa

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_046771.1 RefSeqGene

Range

5022..6101

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001040431.3 → NP_001035521.1 cytochrome c oxidase assembly factor 3 homolog, mitochondrial

See identical proteins and their annotated locations for NP_001035521.1

Status: REVIEWED

Source sequence(s)

AC016889, AL524532, BC002698

Consensus CDS

CCDS32660.1

UniProtKB/Swiss-Prot

A8K498, Q9Y2R0

Related

ENSP00000354762.5, ENST00000328434.8

Conserved Domains (1) summary

pfam09813
Location:9 → 91

Coiled-coil_56; Coiled-coil domain-containing protein 56

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

42797625..42798704 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

43654765..43655844 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_014019.1: Suppressed sequence

Description

NM_014019.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.