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COQ8A coenzyme Q8A [ Homo sapiens (human) ]

Gene ID: 56997, updated on 3-Jun-2018
Official Symbol
COQ8Aprovided by HGNC
Official Full Name
coenzyme Q8Aprovided by HGNC
Primary source
HGNC:HGNC:16812
See related
Ensembl:ENSG00000163050 MIM:606980; Vega:OTTHUMG00000037621
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
See COQ8A in Genome Data Viewer
Location:
1q42.13
Exon count:
20
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (226939339..226987545)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (227084589..227175246)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985354 Neighboring gene presenilin 2 Neighboring gene glucose-dependent insulinotropic receptor-like Neighboring gene CDC42 binding protein kinase alpha Neighboring gene cathepsin B pseudogene Neighboring gene ubiquitin like modifier activating enzyme 5 pseudogene

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC4849

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ADP binding IDA
Inferred from Direct Assay
more info
PubMed 
ATP binding IEA
Inferred from Electronic Annotation
more info
 
kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
NOT protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
NOT protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
ubiquinone biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquinone biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
ubiquinone biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
extrinsic component of mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
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

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
    47702..95010
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_020247.4NP_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, DA925261
    Consensus CDS
    CCDS1557.1
    UniProtKB/Swiss-Prot
    Q8NI60
    UniProtKB/TrEMBL
    A0A024R3S3
    Related
    ENSP00000355739.3, OTTHUMP00000035734, ENST00000366777.3, OTTHUMT00000091709
    Conserved Domains (1) summary
    cd13970
    Location:295545
    ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    226939339..226987545
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001852.1XP_016857341.1  atypical kinase COQ8A, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q8NI60
    UniProtKB/TrEMBL
    A0A024R3S3
    Related
    ENSP00000355741.1, OTTHUMP00000035737, ENST00000366779.5, OTTHUMT00000091712
    Conserved Domains (1) summary
    cd13970
    Location:295545
    ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3
  2. XM_024448517.1XP_024304285.1  atypical kinase COQ8A, mitochondrial isoform X1

    Conserved Domains (1) summary
    cd13970
    Location:295545
    ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3
  3. XM_024448518.1XP_024304286.1  atypical kinase COQ8A, mitochondrial isoform X1

    Conserved Domains (1) summary
    cd13970
    Location:295545
    ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3
  4. XM_011544238.1XP_011542540.1  atypical kinase COQ8A, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011542540.1

    UniProtKB/Swiss-Prot
    Q8NI60
    UniProtKB/TrEMBL
    A0A024R3S3
    Conserved Domains (1) summary
    cd13970
    Location:295545
    ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3
  5. XM_011544239.2XP_011542541.1  atypical kinase COQ8A, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011542541.1

    UniProtKB/Swiss-Prot
    Q8NI60
    UniProtKB/TrEMBL
    A0A024R3S3
    Conserved Domains (1) summary
    cd13970
    Location:295545
    ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3
  6. XM_011544241.2XP_011542543.1  atypical kinase COQ8A, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011542543.1

    UniProtKB/Swiss-Prot
    Q8NI60
    UniProtKB/TrEMBL
    A0A024R3S3
    Conserved Domains (1) summary
    cd13970
    Location:295545
    ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3
  7. XM_005273201.1XP_005273258.1  atypical kinase COQ8A, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_005273258.1

    UniProtKB/Swiss-Prot
    Q8NI60
    UniProtKB/TrEMBL
    A0A024R3S3
    Conserved Domains (1) summary
    cd13970
    Location:295545
    ABC1_ADCK3; Activator of bc1 complex (ABC1) kinases, also called aarF domain containing kinase 3
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