COA7 cytochrome c oxidase assembly factor 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: COA7provided by HGNC
Official Full Name: cytochrome c oxidase assembly factor 7provided by HGNC
Primary source: HGNC:HGNC:25716
See related: Ensembl:ENSG00000162377 MIM:615623; AllianceGenome:HGNC:25716
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RESA1; SCAN3; SELRC1; C1orf163
Summary: Located in mitochondrial intermembrane space and nucleoplasm. Implicated in spinocerebellar ataxia with axonal neuropathy type 3. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in brain (RPKM 6.1), colon (RPKM 6.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p32.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (52684449..52698347, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (52566007..52579888, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (53150121..53164019, complement)

Chromosome 1 - NC_000001.11 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 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?

Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum.
Title: Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum.
Mitochondrial COA7 is a heme-binding protein with disulfide reductase activity, which acts in the early stages of complex IV assembly.
Title: Mitochondrial COA7 is a heme-binding protein with disulfide reductase activity, which acts in the early stages of complex IV assembly.
pathogenic mutant versions of COA7 are imported slower than the wild-type protein, and mislocalized proteins are degraded in the cytosol by the proteasome.
Title: Inhibition of proteasome rescues a pathogenic variant of respiratory chain assembly factor COA7.
The results of this study suggest that loss-of-function COA7 mutation is responsible for the phenotype of the presented patients, and this new entity of disease would be referred to as spinocerebellar ataxia with axonal neuropathy type 3.
Title: Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.
The first patient carrying pathogenic mutations of COA7, causative of isolated COX deficiency and progressive neurological impairment is reported. It is also shown that COA7 is a soluble protein localized to the matrix, rather than in the intermembrane space as previously suggested.
Title: COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency.
C1orf163 is a novel factor important for the assembly of respiratory chain complexes in human mitochondria.
Title: C1orf163/RESA1 is a novel mitochondrial intermembrane space protein connected to respiratory chain assembly.

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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
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MedGen: C5193070 OMIM: 618387 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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Replication interactions

Interaction	Pubs
Knockdown of Sel1 repeat containing 1 (SELRC1; C1orf163) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells	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

D10S275 (e-PCR)
- UniSTS:147992

D8S2279 (e-PCR)
- UniSTS:473907

D1S1423 (e-PCR)
- UniSTS:149619

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
is_active_in mitochondrial intermembrane space	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial intermembrane space	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
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: cytochrome c oxidase assembly factor 7

Names: Sel1 repeat containing 1; beta-lactamase hcp-like protein; cytochrome c oxidase assembly factor 7 (putative); epididymis secretory sperm binding protein; hcp beta-lactamase-like protein C1orf163; respiratory chain assembly 1; respiratory chain assembly factor 1; sel1 repeat-containing protein 1

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_023077.3 → NP_075565.2 cytochrome c oxidase assembly factor 7

See identical proteins and their annotated locations for NP_075565.2

Status: VALIDATED

Source sequence(s)

AC099784, AK022501, BC015313

Consensus CDS

CCDS570.1

UniProtKB/Swiss-Prot

Q0P6I7, Q96BR5, Q9H9Z9

UniProtKB/TrEMBL

A0A384MTZ4

Related

ENSP00000360593.3, ENST00000371538.5

Conserved Domains (2) summary

COG0790
Location:31 → 218

TPR; TPR repeat [Signal transduction mechanisms]

sd00010
Location:50 → 80

SLR; SLR repeat [structural motif]