COQ7
entrez
10229
canonical
uniprot
Q99807
canonical
ensembl
ENSG00000167186
resolver
ensp
ENSP00000322316
resolver
ensp
ENSP00000442923
resolver
ensp
ENSP00000455122
resolver
ensp
ENSP00000457256
resolver
ensp
ENSP00000794486
resolver
genesymbol
COQ7
resolver
hgnc
HGNC:2244
resolver
uniprot
B2RDA9
resolver
uniprot
Q9BTT7
resolver
uniprot
Q9H0T5
resolver
uniprot
Q9UEW5
resolver
uniprot
Q9UNR5
resolver
uniprot_entry
COQ7_HUMAN
resolver
uniprot_sec
B2RDA9
resolver
uniprot_sec
Q9BTT7
resolver
uniprot_sec
Q9H0T5
resolver
uniprot_sec
Q9UEW5
resolver
uniprot_sec
Q9UNR5
resolver
amino_acid_sequence
MSCAGAAAAPRLWRLRPGARRSLSAYGRRTSVRFRSSGMTLDNISRAAVDRIIRVDHAGEYGANRIYAGQMAVLGRTSVGPVIQKMWDQEKDHLKKFNELMVTFRVRPTVLMPLWNVLGFALGAGTALLGKEGAMACTVAVEESIAHHYNNQIRTLMEEDPEKYEELLQLIKKFRDEELEHHDIGLDHDAELAPAYAVLKSIIQAGCRVAIYLSERL
uniprot
proteins
disease_involvement
DISEASE: Coenzyme Q10 deficiency, primary, 8 (COQ10D8) [MIM:616733]: An autosomal recessive disorder resulting from mitochondrial dysfunction and characterized by decreased levels of coenzyme Q10. Patients manifest neonatal lung hypoplasia, contractures, early infantile hypertension and cardiac hypertrophy, secondary to prenatal kidney dysplasia, with neonatal and infantile renal dysfunction. Clinical features also include progressive peripheral neuropathy, muscular hypotonia and atrophy, and mild psychomotor delay with hearing and visual impairment. {ECO:0000269|PubMed:26084283, ECO:0000269|PubMed:28409910, ECO:0000269|PubMed:31240163, ECO:0000269|PubMed:33215859, ECO:0000269|PubMed:35782625, ECO:0000269|PubMed:37392700}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neuronopathy, distal hereditary motor, autosomal recessive 9 (HMNR9) [MIM:620402]: A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. HMNR9 is a slowly progressive form characterized by juvenile onset of distal muscle weakness and atrophy particularly affecting the lower limbs, although most patients also have upper limb involvement. Additional features include pes cavus, foot drop, and inability to walk on the heels or tiptoes. Some patients may have mild sensory abnormalities or pyramidal signs. {ECO:0000269|PubMed:36758993, ECO:0000269|PubMed:37392700}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.14.13.253
uniprot
proteins
function
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, whereby NADH shuttles electrons to 5-methoxy-2-methyl-3-(all-trans-decaprenyl)benzoquinone, which then transfers the electrons to the two Fe(3+) centers (PubMed:23445365). The binding of 5-methoxy-2-methyl-3-(all-trans-polyprenyl)benzoquinone (DMQn) mediates reduction of the diiron center by nicotinamide adenine dinucleotide (NADH) and initiates oxygen activation for subsequent DMQ hydroxylation (PubMed:23445365). The physiological substrates are 5-methoxy-2-methyl-3-(all-trans-nonaprenyl)benzoquinone (DMQ(9)) and 5-methoxy-2-methyl-3-(all-trans-decaprenyl)benzoquinone (DMQ(10)), however in vitro the enzyme does not have any specificity concerning the length of the polyprenyl tail, and accepts tails of various lengths with similar efficiency (PubMed:23445365, PubMed:28409910). Also has a structural role in the COQ enzyme complex, stabilizing other COQ polypeptides. Involved in lifespan determination in a ubiquinone-independent manner (By similarity). Plays a role in modulating mitochondrial stress responses, acting in the nucleus, perhaps via regulating gene expression, independent of its characterized mitochondrial function in ubiquinone biosynthesis (PubMed:25961505). {ECO:0000255|HAMAP-Rule:MF_03194, ECO:0000269|PubMed:23445365, ECO:0000269|PubMed:25961505, ECO:0000269|PubMed:28409910, ECO:0000305|PubMed:23445365, ECO:0000305|PubMed:28409910, ECO:0000305|PubMed:38425362}.
uniprot
proteins
mass_dalton
24277
uniprot
proteins
mutagenesis
MUTAGEN 28; /note="R->A: Reduces nuclear localization. Increases level of reactive oxygen species (ROS)."; /evidence="ECO:0000269|PubMed:25961505"; MUTAGEN 51; /note="R->A: Loss of function activity; when associated with A-208; A-212 and A-216."; /evidence="ECO:0000269|PubMed:36306796"; MUTAGEN 178; /note="E->K: No detectable ubiquinone is produced."; /evidence="ECO:0000269|PubMed:28409910"; MUTAGEN 208; /note="R->A: Loss of function activity; when associated with A-51; A-212 and A-216."; /evidence="ECO:0000269|PubMed:36306796"; MUTAGEN 212; /note="Y->A: Loss of function activity; when associated with A-51; A-208 and A-216."; /evidence="ECO:0000269|PubMed:36306796"; MUTAGEN 216; /note="R->A: Loss of function activity; when associated with A-51; A-208 and A-212."; /evidence="ECO:0000269|PubMed:36306796
uniprot
proteins
pathway_participation
PATHWAY: Cofactor biosynthesis; ubiquinone biosynthesis. {ECO:0000269|PubMed:23445365, ECO:0000269|PubMed:38425362}.
uniprot
proteins
protein_family
COQ7 family
uniprot
proteins
pubmed
10373327
uniprot
proteins
pubmed
10501970
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23445365
uniprot
proteins
pubmed
24270420
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25339443
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
25961505
uniprot
proteins
pubmed
26084283
uniprot
proteins
pubmed
28409910
uniprot
proteins
pubmed
31240163
uniprot
proteins
pubmed
33215859
uniprot
proteins
pubmed
35782625
uniprot
proteins
pubmed
36306796
uniprot
proteins
pubmed
36758993
uniprot
proteins
pubmed
37392700
uniprot
proteins
pubmed
38425362
uniprot
proteins
pubmed
9020081
uniprot
proteins
sequence_length
217
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000255|HAMAP-Rule:MF_03194}; Peripheral membrane protein {ECO:0000255|HAMAP-Rule:MF_03194}; Matrix side {ECO:0000255|HAMAP-Rule:MF_03194}. Mitochondrion {ECO:0000269|PubMed:25961505}. Nucleus {ECO:0000269|PubMed:25961505}. Chromosome {ECO:0000269|PubMed:25961505}.
uniprot
proteins