Description: Homo sapiens coenzyme Q9 (COQ9), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_020312) RefSeq Summary (NM_020312): 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 deficiency.[provided by RefSeq, Sep 2010]. Gencode Transcript: ENST00000262507.11 Gencode Gene: ENSG00000088682.14 Transcript (Including UTRs) Position: hg38 chr16:57,447,479-57,461,270 Size: 13,792 Total Exon Count: 9 Strand: + Coding Region Position: hg38 chr16:57,447,506-57,460,624 Size: 13,119 Coding Exon Count: 9
ID:COQ9_HUMAN DESCRIPTION: RecName: Full=Ubiquinone biosynthesis protein COQ9, mitochondrial; Flags: Precursor; FUNCTION: Involved in the biosynthesis of coenzyme Q (By similarity). PATHWAY: Cofactor biosynthesis; ubiquinone biosynthesis. SUBCELLULAR LOCATION: Mitochondrion (By similarity). DISEASE: Defects in COQ9 are the cause of coenzyme Q10 deficiency, primary, type 5 (COQ10D5) [MIM:614654]. A form of coenzyme Q10 deficiency, an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form. SIMILARITY: Belongs to the COQ9 family. SEQUENCE CAUTION: Sequence=AAF29004.1; Type=Frameshift; Positions=26, 133, 138, 141;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O75208
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.