Human Gene COQ9 (ENST00000262507.11) from GENCODE V44
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
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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.