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

Gene ID: 285521, updated on 20-Dec-2019

Summary

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
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
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

Genomic context

See COX18 in Genome Data Viewer
Location:
4q13.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (73052362..73069777, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (73920416..73935476, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377273 Neighboring gene uncharacterized LOC107986286 Neighboring gene RNA, U6atac small nuclear 5, pseudogene 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.
NHGRI GWA Catalog
Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
NHGRI GWA Catalog
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA Catalog

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ38991, MGC126733

Gene Ontology Provided by GOA

Function Evidence Code Pubs
membrane insertase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane insertase activity IDA
Inferred from Direct Assay
more info
PubMed 
membrane insertase activity IGI
Inferred from Genetic Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
integral component of mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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_001297732.2NP_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
    ENSP00000425261.2, ENST00000507544.2
    Conserved Domains (1) summary
    cl00489
    Location:71300
    60KD_IMP; 60Kd inner membrane protein
  2. NM_001297733.2NP_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:7148
    60KD_IMP; 60Kd inner membrane protein
  3. NM_001300729.1NP_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:153302
    60KD_IMP; 60Kd inner membrane protein
  4. NM_173827.4NP_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
    Q8N8Q8
    Related
    ENSP00000295890.4, ENST00000295890.8
    Conserved Domains (1) summary
    cl00489
    Location:71299
    60KD_IMP; 60Kd inner membrane protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    73052362..73069777 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017008045.2XP_016863534.1  cytochrome c oxidase assembly protein COX18, mitochondrial isoform X2

  2. XM_011531878.3XP_011530180.1  cytochrome c oxidase assembly protein COX18, mitochondrial isoform X3

    Conserved Domains (1) summary
    cl00489
    Location:7149
    60KD_IMP; 60Kd inner membrane protein
  3. XM_005265680.5XP_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:71277
    60KD_IMP; 60Kd inner membrane protein

RNA

  1. XR_001741209.2 RNA Sequence

  2. XR_002959725.1 RNA Sequence

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.
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