U.S. flag

An official website of the United States government

Links from GEO Profiles

    • Showing Current items.

    COQ8A coenzyme Q8A [ Homo sapiens (human) ]

    Gene ID: 56997, updated on 10-Dec-2024

    Summary

    Official Symbol
    COQ8Aprovided by HGNC
    Official Full Name
    coenzyme Q8Aprovided by HGNC
    Primary source
    HGNC:HGNC:16812
    See related
    Ensembl:ENSG00000163050 MIM:606980; AllianceGenome:HGNC:16812
    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
    COQ8; ADCK3; ARCA2; CABC1; SCAR9; COQ10D4
    Summary
    This gene encodes a mitochondrial protein similar to yeast ABC1, which functions in an electron-transferring membrane protein complex in the respiratory chain. It is not related to the family of ABC transporter proteins. Expression of this gene is induced by the tumor suppressor p53 and in response to DNA damage, and inhibiting its expression partially suppresses p53-induced apoptosis. Alternatively spliced transcript variants have been found; however, their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in fat (RPKM 53.1), adrenal (RPKM 33.1) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See COQ8A in Genome Data Viewer
    Location:
    1q42.13
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (226940294..226987544)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (226128212..226175909)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (227127995..227175245)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1893 Neighboring gene MPRA-validated peak736 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2673 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:227083595-227083826 Neighboring gene uncharacterized LOC107985354 Neighboring gene presenilin 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:227126665-227127356 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1895 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:227138969-227139468 Neighboring gene MPRA-validated peak738 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:227161529-227162142 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:227166346-227167094 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:227172247-227172425 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2676 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:227180293-227181492 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:227182370-227182516 Neighboring gene CDC42 binding protein kinase alpha Neighboring gene NANOG hESC enhancer GRCh37_chr1:227259898-227260481 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:227309525-227309674 Neighboring gene MPRA-validated peak741 silencer Neighboring gene cathepsin B pseudogene Neighboring gene UBA5 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • MGC4849

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ADP binding PubMed 
    enables ATP binding  
    enables kinase activity PubMed 
    enables protein binding PubMed 
    NOT enables protein kinase activity PubMed 
    Component Evidence Code Pubs
    located_in membrane  
    located_in mitochondrion PubMed 
    located_in mitochondrion PubMed 

    General protein information

    Preferred Names
    atypical kinase COQ8A, mitochondrial
    Names
    aarF domain-containing protein kinase 3
    atypical kinase ADCK3, mitochondrial
    chaperone activity of bc1 complex-like, mitochondrial
    chaperone, ABC1 activity of bc1 complex homolog
    coenzyme Q protein 8A
    coenzyme Q8 homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_012825.2 RefSeqGene

      Range
      47759..95009
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1092

    mRNA and Protein(s)

    1. NM_020247.5 → NP_064632.2  atypical kinase COQ8A, mitochondrial

      See identical proteins and their annotated locations for NP_064632.2

      Status: REVIEWED

      Source sequence(s)
      AI888739, AK074693, AL353689, BC005171
      Consensus CDS
      CCDS1557.1
      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67
      UniProtKB/TrEMBL
      B4DVB7
      Related
      ENSP00000355739.3, ENST00000366777.4
      Conserved Domains (1) summary
      cd13970
      Location:295 → 545
      ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      226940294..226987544
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425745.1 → XP_047281701.1  atypical kinase COQ8A, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67
      UniProtKB/TrEMBL
      B4DVB7
    2. XM_047425732.1 → XP_047281688.1  atypical kinase COQ8A, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67
      UniProtKB/TrEMBL
      B4DVB7
    3. XM_024448517.2 → XP_024304285.1  atypical kinase COQ8A, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67
      UniProtKB/TrEMBL
      B4DVB7
      Conserved Domains (1) summary
      cd13970
      Location:295 → 545
      ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3
    4. XM_047425739.1 → XP_047281695.1  atypical kinase COQ8A, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67
      UniProtKB/TrEMBL
      B4DVB7
    5. XM_011544239.3 → XP_011542541.1  atypical kinase COQ8A, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011542541.1

      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67
      UniProtKB/TrEMBL
      B4DVB7
      Conserved Domains (1) summary
      cd13970
      Location:295 → 545
      ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3
    6. XM_024448518.2 → XP_024304286.1  atypical kinase COQ8A, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67
      UniProtKB/TrEMBL
      B4DVB7
      Conserved Domains (1) summary
      cd13970
      Location:295 → 545
      ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3
    7. XM_047425749.1 → XP_047281705.1  atypical kinase COQ8A, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67
      UniProtKB/TrEMBL
      B4DVB7
    8. XM_011544238.2 → XP_011542540.1  atypical kinase COQ8A, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011542540.1

      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67
      UniProtKB/TrEMBL
      B4DVB7
      Conserved Domains (1) summary
      cd13970
      Location:295 → 545
      ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3
    9. XM_005273201.2 → XP_005273258.1  atypical kinase COQ8A, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_005273258.1

      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67
      UniProtKB/TrEMBL
      B4DVB7
      Conserved Domains (1) summary
      cd13970
      Location:295 → 545
      ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      226128212..226175909
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337774.1 → XP_054193749.1  atypical kinase COQ8A, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67
      UniProtKB/TrEMBL
      B4DVB7
    2. XM_054337769.1 → XP_054193744.1  atypical kinase COQ8A, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67
      UniProtKB/TrEMBL
      B4DVB7
    3. XM_054337775.1 → XP_054193750.1  atypical kinase COQ8A, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67
      UniProtKB/TrEMBL
      B4DVB7
    4. XM_054337770.1 → XP_054193745.1  atypical kinase COQ8A, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67
      UniProtKB/TrEMBL
      B4DVB7
    5. XM_054337768.1 → XP_054193743.1  atypical kinase COQ8A, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67
      UniProtKB/TrEMBL
      B4DVB7
    6. XM_054337771.1 → XP_054193746.1  atypical kinase COQ8A, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67
      UniProtKB/TrEMBL
      B4DVB7
    7. XM_054337776.1 → XP_054193751.1  atypical kinase COQ8A, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67
      UniProtKB/TrEMBL
      B4DVB7
    8. XM_054337772.1 → XP_054193747.1  atypical kinase COQ8A, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67
      UniProtKB/TrEMBL
      B4DVB7
    9. XM_054337773.1 → XP_054193748.1  atypical kinase COQ8A, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q5T7A5, Q63HK0, Q8NCJ6, Q8NI60, Q9HBQ1, Q9NQ67
      UniProtKB/TrEMBL
      B4DVB7
    External link. Please review our privacy policy.