COQ7 (coenzyme Q7, hydroxylase)
Gene | |
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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10229 |
Gene name
Gene Name - the full gene name approved by the HGNC.
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Coenzyme Q7, hydroxylase |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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COQ7 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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CAT5, CLK-1, CLK1, COQ10D8, HMNR9 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
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COQ10D8, HMNR9 |
Chromosome
Chromosome number
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16 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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16p12.3 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene is similar to a mitochondrial di-iron containing hydroxylase in Saccharomyces cerevisiae that is involved with ubiquinone biosynthesis. Mutations in the yeast gene lead to slower development and longer life span. Alternati |
SNPs
SNP information provided by dbSNP.
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein | |||||||||||
UniProt ID | Q99807 | ||||||||||
Protein name | NADPH-dependent 3-demethoxyubiquinone 3-hydroxylase, mitochondrial (EC 1.14.13.253) (3-demethoxyubiquinone 3-hydroxylase (NADH)) (Timing protein clk-1 homolog) (Ubiquinone biosynthesis monooxygenase COQ7) | ||||||||||
Protein function | Catalyzes the hydroxylation of the 5-methoxy-2-methyl-3-(all-trans-polyprenyl)benzoquinone at the C6 position and participates in the biosynthesis of ubiquinone (Probable). Catalyzes the reaction through a substrate-mediated reduction pathway, w | ||||||||||
PDB | 7SSP , 7SSS | ||||||||||
Family and domains |
Pfam
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Tissue specificity | TISSUE SPECIFICITY: Expressed dominantly in heart and skeletal muscle. {ECO:0000269|PubMed:10373327}. | ||||||||||
Sequence |
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Sequence length | 217 | ||||||||||
Interactions | View interactions |
Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease information provided by ClinVar, GenCC, and GWAS databases.
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