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

Gene ID: 84334, updated on 19-Jun-2021

Summary

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
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

See COA8 in Genome Data Viewer
Location:
14q32.33
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (103562960..103590899)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (104029297..104057236)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene RNA, U7 small nuclear 160 pseudogene Neighboring gene BAG cochaperone 5 Neighboring gene RNA, U4 small nuclear 68, pseudogene Neighboring gene uncharacterized LOC105370688 Neighboring gene kinesin light chain 1 Neighboring gene X-ray repair cross complementing 3

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

Associated conditions

Description Tests
Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available
Mitochondrial complex 4 deficiency, nuclear type 17
MedGen: C5436718 OMIM: 619061 GeneReviews: Not available
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HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: KLC1

Homology

Clone Names

  • MGC2562, FLJ55519

General protein information

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_001302652.2NP_001289581.2  cytochrome c oxidase assembly factor 8 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has a shorter 3' UTR, and uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a distinct, shorter C-terminus than isoform 1.
    Source sequence(s)
    AL139300
    Conserved Domains (1) summary
    pfam10231
    Location:54159
    DUF2315; Uncharacterized conserved protein (DUF2315)
  2. NM_001302653.2NP_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
    Related
    ENSP00000451874.2, ENST00000556253.6
    Conserved Domains (1) summary
    pfam10231
    Location:54127
    DUF2315; Uncharacterized conserved protein (DUF2315)
  3. NM_001302654.2NP_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
    Related
    ENSP00000451703.1, ENST00000495778.1
    Conserved Domains (1) summary
    pfam10231
    Location:54127
    DUF2315; Uncharacterized conserved protein (DUF2315)
  4. NM_001370595.2NP_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
    CCDS9983.2
    Related
    ENSP00000386485.3, ENST00000409074.8
    Conserved Domains (1) summary
    pfam10231
    Location:54181
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

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