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

    Gene ID: 84334, updated on 2-Nov-2024

    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
    mouse all
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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: HPA RNA-seq normal tissues 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. 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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    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
    		Compare labs

    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)

    Genotypes

    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 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 negative regulation of reactive oxygen species biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cytochrome-c oxidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of cytochrome-c oxidase activity 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 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 

    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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