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COA8 cytochrome c oxidase assembly factor 8 [ Homo sapiens (human) ]

Gene ID: 84334, updated on 7-Apr-2025

Summary

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Official Symbol
COA8provided by HGNC
Official Full Name
cytochrome c oxidase assembly factor 8provided by HGNC
Primary source
HGNC:HGNC:20492
See related
Ensembl:ENSG00000256053 MIM:616003; AllianceGenome:HGNC:20492
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
APOP; APOP1; APOPT1; MC4DN17; C14orf153
Summary
This gene encodes a protein that localizes to the mitochondria, where it stimulates the release of cytochrome c, thereby promoting programmed cell death. Mutations in this gene have been found in individuals with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Expression
Ubiquitous expression in testis (RPKM 10.4), fat (RPKM 5.7) and 25 other tissues See more
Orthologs
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Genomic context

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See COA8 in Genome Data Viewer
Location:
14q32.33
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (103562960..103590899)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (97799005..97826938)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (104029297..104057236)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903392 Neighboring gene RNA, U7 small nuclear 160 pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:104027599-104028112 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9106 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6160 Neighboring gene BAG cochaperone 5 Neighboring gene RNA, U4 small nuclear 68, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr14:104054857-104055031 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:104056621-104057122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:104057123-104057622 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6161 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9107 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9108 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6162 Neighboring gene uncharacterized LOC105370688 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9109 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6163 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6164 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6166 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6167 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:104106328-104106828 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6168 Neighboring gene kinesin light chain 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:104140157-104140656 Neighboring gene MPRA-validated peak2255 silencer Neighboring gene X-ray repair cross complementing 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. Knockdown of APOPT1/COA8 Causes Cytochrome c Oxidase Deficiency, Neuromuscular Impairment, and Reduced Resistance to Oxidative Stress in Drosophila melanogaster. Brischigliaro M, et al. Front Physiol, 2019. PMID 31555154, Free PMC Article
  2. Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency. Melchionda L, et al. Am J Hum Genet, 2014 Sep 4. PMID 25175347, Free PMC Article
  3. APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS. Signes A, et al. EMBO Mol Med, 2019 Jan. PMID 30552096, Free PMC Article
  4. Apop-1, a novel protein inducing cyclophilin D-dependent but Bax/Bak-related channel-independent apoptosis. Yasuda O, et al. J Biol Chem, 2006 Aug 18. PMID 16782708
  5. Akt activation prevents Apop-1-induced death of cells. Sun X, et al. Biochem Biophys Res Commun, 2008 Dec 26. PMID 18977203

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.
    Title: Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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

Associated conditions

Description Tests
Mitochondrial complex 4 deficiency, nuclear type 17
MedGen: C5436718 OMIM: 619061 GeneReviews: Not available
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EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
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)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of mitochondrial apoptogenic 1 (APOPT1, C14orf153) in human B cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: KLC1

Homology

Clone Names

  • MGC2562, FLJ55519

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 apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in intrinsic apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in mitochondrial cytochrome c oxidase assembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in mitochondrial cytochrome c oxidase assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein stabilization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to reactive oxygen species IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in matrix side of mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
cytochrome c oxidase assembly factor 8
Names
UPF0671 protein C14orf153
apoptogenic 1, mitochondrial

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

  1. NG_041786.1 RefSeqGene

    Range
    5004..32940
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001302653.2 → NP_001289582.2  cytochrome c oxidase assembly factor 8 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has a shorter 3' UTR, and contains an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (3) has a distinct, shorter C-terminus than isoform 1.
    Source sequence(s)
    AL139300
    Consensus CDS
    CCDS91944.1
    UniProtKB/TrEMBL
    G3V4L6
    Related
    ENSP00000451874.2, ENST00000556253.6
    Conserved Domains (1) summary
    pfam10231
    Location:53 → 127
    DUF2315; Uncharacterized conserved protein (DUF2315)

  2. NM_001302654.2 → NP_001289583.2  cytochrome c oxidase assembly factor 8 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks multiple 3' exons and contains an alternate 3' terminal exon, resulting in a distinct 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (4) has a distinct, shorter C-terminus than isoform 1.
    Source sequence(s)
    AL139300
    UniProtKB/TrEMBL
    H0YJK3
    Related
    ENSP00000451703.1, ENST00000495778.1
    Conserved Domains (1) summary
    pfam10231
    Location:54 → 127
    DUF2315; Uncharacterized conserved protein (DUF2315)

  3. NM_001370595.2 → NP_001357524.1  cytochrome c oxidase assembly factor 8 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL139300
    Consensus CDS
    CCDS9983.3
    UniProtKB/Swiss-Prot
    H7C2Z1, Q53G28, Q96IL0
    UniProtKB/TrEMBL
    A0A6Q8JUI0
    Related
    ENSP00000386485.3, ENST00000409074.8
    Conserved Domains (1) summary
    pfam10231
    Location:54 → 181
    DUF2315; Uncharacterized conserved protein (DUF2315)

RNA

  1. NR_126431.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) contains an alternate internal exon and has a shorter 3' terminal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL139300

  2. NR_126432.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an internal exon and has a shorter 3' terminal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL139300

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    103562960..103590899
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    97799005..97826938
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001302652.2: Suppressed sequence

    Description
    NM_001302652.2: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96IL0.3 GenPept UniProtKB/Swiss-Prot:Q96IL0

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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