• Gene id: 57017

Gene Summary

• Gene Symbol: COQ9   Gene   UCSC   Ensembl
• Aliases: C16orf49, COQ10D5
• Gene name: coenzyme Q9
• Alternate names: ubiquinone biosynthesis protein COQ9, mitochondrial, coenzyme Q9 homolog,
• Gene location: 16q21 (57447478: 57461269)     Exons: 9     NC_000016.10
• Gene summary(Entrez): This locus represents a mitochondrial ubiquinone biosynthesis gene. The encoded protein is likely necessary for biosynthesis of coenzyme Q10, as mutations at this locus have been associated with autosomal-recessive neonatal-onset primary coenzyme Q10 defi
• OMIM: 612837

Protein Summary

• Protein general information: O75208  
  • Name: Ubiquinone biosynthesis protein COQ9, mitochondrial
  • Length: 318  
  • Mass: 35509
• Sequence:

  MAAAAVSGALGRAGWRLLQLRCLPVARCRQALVPRAFHASAVGLRSSDEQKQQPPNSFSQQHSETQGAEKPDPES
  SHSPPRYTDQGGEEEEDYESEEQLQHRILTAALEFVPAHGWTAEAIAEGAQSLGLSSAAASMFGKDGSELILHFV
  TQCNTRLTRVLEEEQKLVQLGQAEKRKTDQFLRDAVETRLRMLIPYIEHWPRALSILMLPHNIPSSLSLLTSMVD
  DMWHYAGDQSTDFNWYTRRAMLAAIYNTTELVMMQDSSPDFEDTWRFLENRVNDAMNMGHTAKQVKSTGEALVQG
  LMGAAVTLKNLTGLNQRR

• Structural information:
  • Interpro: IPR013718  IPR012762  
  • PDB: 4RHP 6AWL 6DEW
  • PDBsum: 4RHP 6AWL 6DEW
  • STRING: ENSP00000262507
• Other Databases: GeneCards:  COQ9  Malacards:  COQ9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008289	lipid binding	IBA	molecular function
GO:0005743	mitochondrial inner membrane	IBA	cellular component
GO:0006744	ubiquinone biosynthetic process	IBA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0008289	lipid binding	IDA	molecular function
GO:0006744	ubiquinone biosynthetic process	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0008289	lipid binding	IEA	molecular function
GO:0006744	ubiquinone biosynthetic process	IEA	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0006744	ubiquinone biosynthetic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
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:0006120	mitochondrial electron transport, NADH to ubiquinone	IEA	biological process
GO:0006744	ubiquinone biosynthetic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0006744	ubiquinone biosynthetic process	IEA	biological process
GO:0005739	mitochondrion	HDA	cellular component

Diseases

Associated diseases	References
Coenzyme Q10 deficiency	KEGG:H00999
Coenzyme Q10 deficiency	KEGG:H00999
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)