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COX18 cytochrome c oxidase assembly factor COX18 [ Homo sapiens (human) ]

Gene ID: 285521, updated on 11-Apr-2024

Summary

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Official Symbol
COX18provided by HGNC
Official Full Name
cytochrome c oxidase assembly factor COX18provided by HGNC
Primary source
HGNC:HGNC:26801
See related
Ensembl:ENSG00000163626 MIM:610428; AllianceGenome:HGNC:26801
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
OXA1L2; COX18HS
Summary
This gene encodes a cytochrome c oxidase assembly protein. The encoded protein is essential for integral membrane protein insertion into the mitochondrial inner membrane. It is also required for cytochrome c oxidase assembly and activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Expression
Ubiquitous expression in kidney (RPKM 3.3), adrenal (RPKM 2.9) and 25 other tissues See more
Orthologs
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Genomic context

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See COX18 in Genome Data Viewer
Location:
4q13.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (73052362..73069759, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (76395977..76413374, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (73918079..73935476, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377273 Neighboring gene uncharacterized LOC107986286 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:73877285-73878180 Neighboring gene Sharpr-MPRA regulatory region 13076 Neighboring gene RNA, U6atac small nuclear 5, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21608 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:73934752-73935267 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:73935268-73935784 Neighboring gene uncharacterized LOC112268467 Neighboring gene ankyrin repeat domain 17 Neighboring gene high mobility group AT-hook 1 pseudogene 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency. Sacconi S, et al. J Hum Genet, 2009 Jul. PMID 19373256
  2. hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly. Sacconi S, et al. Biochem Biophys Res Commun, 2005 Nov 25. PMID 16212937
  3. The COX18 gene, involved in mitochondrial biogenesis, is functionally conserved and tightly regulated in humans and fission yeast. Gaisne M, et al. FEMS Yeast Res, 2006 Sep. PMID 16911509
  4. Human mitochondrial cytochrome c oxidase assembly factor COX18 acts transiently as a membrane insertase within the subunit 2 maturation module. Bourens M, et al. J Biol Chem, 2017 May 12. PMID 28330871, Free PMC Article
  5. Genome-wide pleiotropy of osteoporosis-related phenotypes: the Framingham Study. Karasik D, et al. J Bone Miner Res, 2010 Jul. PMID 20200953, Free PMC Article

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy.
    Title: A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy.
  2. COX20 stabilizes COX2 during insertion of its N-proximal transmembrane domain, and subsequently, COX18 transiently interacts with COX2 to promote translocation across the inner membrane of the COX2 C-tail that contains the apo-CuA site. The release of COX18 from this complex coincides with the binding of the SCO1-SCO2-COA6 copper metallation module to COX2-COX20 to finalize COX2 biogenesis.
    Title: Human mitochondrial cytochrome c oxidase assembly factor COX18 acts transiently as a membrane insertase within the subunit 2 maturation module.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  4. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
    Title: MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer.
  5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  6. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Genome-wide pleiotropy of osteoporosis-related phenotypes: the Framingham Study.
  7. COX18 mutations may be very rare or associated with other phenotypes than isolated COX deficiency in infancy.
    Title: Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency.
  8. Both hCox18p and hCox19p present significant amino acid identity with the corresponding yeast polypeptides and reveal highly conserved functional domains.
    Title: hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly.
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
A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.
EBI GWAS Catalog
Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
EBI GWAS Catalog
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of COX18 cytochrome c oxidase assembly homolog (S. cerevisiae) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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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

Homology

Clone Names

  • FLJ38991, MGC126733

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables membrane insertase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables membrane insertase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables membrane insertase activity IGI
Inferred from Genetic Interaction
more info
 PubMed 
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 protein insertion into mitochondrial inner membrane from matrix IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein insertion into mitochondrial inner membrane from matrix IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein insertion into mitochondrial membrane IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in respiratory chain complex IV assembly IGI
Inferred from Genetic Interaction
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 

General protein information

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Preferred Names
cytochrome c oxidase assembly protein COX18, mitochondrial
Names
COX18, cytochrome c oxidase assembly factor
cytochrome c oxidase assembly homolog 18
cytochrome c oxidase assembly protein 18
mitochondrial inner membrane protein COX18

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)

  1. NM_001297732.2 → NP_001284661.1  cytochrome c oxidase assembly protein COX18, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_001284661.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.
    Source sequence(s)
    AC095053, BC143642, DA385228
    Consensus CDS
    CCDS75139.1
    UniProtKB/TrEMBL
    B7ZL88
    Related
    ENSP00000425261.3, ENST00000507544.3
    Conserved Domains (1) summary
    cl00489
    Location:71 → 300
    60KD_IMP; 60Kd inner membrane protein

  2. NM_001297733.2 → NP_001284662.1  cytochrome c oxidase assembly protein COX18, mitochondrial isoform 3

    See identical proteins and their annotated locations for NP_001284662.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in its 5' UTR, uses a downstream start codon, and uses an alternate splice site in the central coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
    Source sequence(s)
    AC095053, AM055751, DA674605
    UniProtKB/Swiss-Prot
    Q8N8Q8
    Conserved Domains (1) summary
    cl00489
    Location:7 → 148
    60KD_IMP; 60Kd inner membrane protein

  3. NM_001300729.1 → NP_001287658.1  cytochrome c oxidase assembly protein COX18, mitochondrial isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an exon in the central coding region, which results in the use of an alternate start codon and a frameshift, compared to variant 1. The encoded isoform (4) has a longer and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC095053, AM055752, DA674605
    UniProtKB/Swiss-Prot
    Q8N8Q8
    Conserved Domains (1) summary
    cl00489
    Location:153 → 302
    60KD_IMP; 60Kd inner membrane protein

  4. NM_173827.4 → NP_776188.1  cytochrome c oxidase assembly protein COX18, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_776188.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the central coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AC095053, AK096310, BC101684, DA385228
    Consensus CDS
    CCDS3554.1
    UniProtKB/Swiss-Prot
    Q2PB66, Q2PB67, Q2PB68, Q49B97, Q6IPP9, Q8N8Q8
    Related
    ENSP00000295890.4, ENST00000295890.8
    Conserved Domains (1) summary
    cl00489
    Location:71 → 299
    60KD_IMP; 60Kd inner membrane protein

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

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    73052362..73069759 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017008045.3 → XP_016863534.1  cytochrome c oxidase assembly protein COX18, mitochondrial isoform X2

  2. XM_005265680.6 → XP_005265737.1  cytochrome c oxidase assembly protein COX18, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_005265737.1

    Conserved Domains (1) summary
    cl00489
    Location:71 → 277
    60KD_IMP; 60Kd inner membrane protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    76395977..76413374 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054349734.1 → XP_054205709.1  cytochrome c oxidase assembly protein COX18, mitochondrial isoform X2

  2. XM_054349733.1 → XP_054205708.1  cytochrome c oxidase assembly protein COX18, mitochondrial isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001033760.1: Suppressed sequence

    Description
    NM_001033760.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N8Q8.1 GenPept UniProtKB/Swiss-Prot:Q8N8Q8

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