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COA4 cytochrome c oxidase assembly factor 4 homolog [ Homo sapiens (human) ]

Gene ID: 51287, updated on 5-Mar-2024

Summary

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Official Symbol
COA4provided by HGNC
Official Full Name
cytochrome c oxidase assembly factor 4 homologprovided by HGNC
Primary source
HGNC:HGNC:24604
See related
Ensembl:ENSG00000181924 MIM:608016; AllianceGenome:HGNC:24604
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
CMC3; E2IG2; CHCHD8
Summary
Predicted to be involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in adrenal (RPKM 9.0), thyroid (RPKM 7.6) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
11q13.4
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (73872667..73876846, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (73801816..73805995, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (73583712..73587891, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein L48 Neighboring gene RN7SK pseudogene 243 Neighboring gene MIX23 pseudogene 5 Neighboring gene Sharpr-MPRA regulatory region 5745 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5243 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5244 Neighboring gene proteasomal ATPase associated factor 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:73608007-73608786 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5245 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:73631557-73631769 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:73637447-73637946 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:73643667-73643917 Neighboring gene actin related protein 2/3 complex subunit 3 pseudogene 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:73647840-73648474 Neighboring gene DnaJ heat shock protein family (Hsp40) member B13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3749 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3750

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. Effects of estrogen on global gene expression: identification of novel targets of estrogen action. Charpentier AH, et al. Cancer Res, 2000 Nov 1. PMID 11085516
  2. Analysis of Leigh syndrome mutations in the yeast SURF1 homolog reveals a new member of the cytochrome oxidase assembly factor family. Bestwick M, et al. Mol Cell Biol, 2010 Sep. PMID 20624914, Free PMC Article
  3. Protein import and oxidative folding in the mitochondrial intermembrane space of intact mammalian cells. Fischer M, et al. Mol Biol Cell, 2013 Jul. PMID 23676665, Free PMC Article
  4. The LIFEdb database in 2006. Mehrle A, et al. Nucleic Acids Res, 2006 Jan 1. PMID 16381901, Free PMC Article
  5. From ORFeome to biology: a functional genomics pipeline. Wiemann S, et al. Genome Res, 2004 Oct. PMID 15489336, Free PMC Article

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

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

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC117206, DKFZp762H1711

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in mitochondrial cytochrome c oxidase assembly IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in mitochondrial intermembrane space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
cytochrome c oxidase assembly factor 4 homolog, mitochondrial
Names
E2-induced gene 2 protein
coiled-coil-helix-coiled-coil-helix domain containing 8
coiled-coil-helix-coiled-coil-helix domain-containing protein 8

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_016565.3 → NP_057649.2  cytochrome c oxidase assembly factor 4 homolog, mitochondrial

    See identical proteins and their annotated locations for NP_057649.2

    Status: VALIDATED

    Source sequence(s)
    AK000434, AP002770
    Consensus CDS
    CCDS8225.1
    UniProtKB/Swiss-Prot
    B2RAA0, Q69YU4, Q9NYJ1
    Related
    ENSP00000347919.4, ENST00000355693.5

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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    73872667..73876846 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017884.2 → XP_016873373.1  cytochrome c oxidase assembly factor 4 homolog, mitochondrial isoform X2

    UniProtKB/Swiss-Prot
    B2RAA0, Q69YU4, Q9NYJ1
    Related
    ENSP00000437772.1, ENST00000537289.1

  2. XM_017017883.2 → XP_016873372.1  cytochrome c oxidase assembly factor 4 homolog, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q9NYJ1
    Related
    ENSP00000440756.1, ENST00000541455.1
    Conserved Domains (1) summary
    pfam06747
    Location:43 → 76
    CHCH; CHCH domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    73801816..73805995 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054369060.1 → XP_054225035.1  cytochrome c oxidase assembly factor 4 homolog, mitochondrial isoform X2

    UniProtKB/Swiss-Prot
    B2RAA0, Q69YU4, Q9NYJ1

  2. XM_054369059.1 → XP_054225034.1  cytochrome c oxidase assembly factor 4 homolog, mitochondrial isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NYJ1.2 GenPept UniProtKB/Swiss-Prot:Q9NYJ1

Gene LinkOut

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