• Gene id: 56997

Gene Summary

• Gene Symbol: COQ8A   Gene   UCSC   Ensembl
• Aliases: ADCK3, ARCA2, CABC1, COQ10D4, COQ8, SCAR9
• Gene name: coenzyme Q8A
• Alternate names: atypical kinase COQ8A, mitochondrial, 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 homol,
• Gene location: 1q42.13 (226939338: 226987543)     Exons: 20     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 606980

Protein Summary

• Protein general information: Q8NI60  
  • Name: Atypical kinase COQ8A, mitochondrial (EC 2.7. . ) (Chaperone activity of bc1 complex like) (Chaperone ABC1 like) (Coenzyme Q protein 8A) (aarF domain containing protein kinase 3)
  • Length: 647  
  • Mass: 71950
  • Tissue specificity: Widely expressed, with highest levels in adrenal gland, heart, pancreas, nasal mucosa, stomach, uterus and skeletal muscle. {ECO
• Sequence:

  MAAILGDTIMVAKGLVKLTQAAVETHLQHLGIGGELIMAARALQSTAVEQIGMFLGKVQGQDKHEEYFAENFGGP
  EGEFHFSVPHAAGASTDFSSASAPDQSAPPSLGHAHSEGPAPAYVASGPFREAGFPGQASSPLGRANGRLFANPR
  DSFSAMGFQRRFFHQDQSPVGGLTAEDIEKARQAKARPENKQHKQTLSEHARERKVPVTRIGRLANFGGLAVGLG
  FGALAEVAKKSLRSEDPSGKKAVLGSSPFLSEANAERIVRTLCKVRGAALKLGQMLSIQDDAFINPHLAKIFERV
  RQSADFMPLKQMMKTLNNDLGPNWRDKLEYFEERPFAAASIGQVHLARMKGGREVAMKIQYPGVAQSINSDVNNL
  MAVLNMSNMLPEGLFPEHLIDVLRRELALECDYQREAACARKFRDLLKGHPFFYVPEIVDELCSPHVLTTELVSG
  FPLDQAEGLSQEIRNEICYNILVLCLRELFEFHFMQTDPNWSNFFYDPQQHKVALLDFGATREYDRSFTDLYIQI
  IRAAADRDRETVRAKSIEMKFLTGYEVKVMEDAHLDAILILGEAFASDEPFDFGTQSTTEKIHNLIPVMLRHRLV
  PPPEETYSLHRKMGGSFLICSKLKARFPCKAMFEEAYSNYCKRQAQQ

• Structural information:
  • Protein Domains: (329..51-)
    (/note="Protein-kinase")
  • Interpro: IPR034646  IPR034640  IPR011009  IPR004147  
  • CDD: cd13970
  • PDB: 4PED 5I35
  • PDBsum: 4PED 5I35
  • STRING: ENSP00000355741
• Other Databases: GeneCards:  COQ8A  Malacards:  COQ8A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0006744	ubiquinone biosynthetic process	IBA	biological process
GO:0031314	extrinsic component of mitochondrial inner membrane	IBA	cellular component
GO:0016301	kinase activity	IBA	molecular function
GO:0016301	kinase activity	IDA	molecular function
GO:0016301	kinase activity	IDA	molecular function
GO:0043531	ADP binding	IDA	molecular function
GO:0016310	phosphorylation	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0006468	protein phosphorylation	IDA	NOT|biological process
GO:0004672	protein kinase activity	IDA	NOT|molecular function
GO:0016310	phosphorylation	IDA	biological process
GO:0006744	ubiquinone biosynthetic process	IMP	biological process
GO:0006744	ubiquinone biosynthetic process	IMP	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0006744	ubiquinone biosynthetic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006744	ubiquinone biosynthetic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0006468	protein phosphorylation	IEA	biological process
GO:0006744	ubiquinone biosynthetic process	IEA	biological process

Diseases

Associated diseases	References
Autosomal recessive spinocerebellar ataxias	KEGG:H01891
Coenzyme Q10 deficiency	KEGG:H00999
Autosomal recessive spinocerebellar ataxias	KEGG:H01891
Coenzyme Q10 deficiency	KEGG:H00999
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq