COQ6
entrez
51004
canonical
uniprot
Q9Y2Z9
canonical
ensembl
ENSG00000119723
resolver
ensp
ENSP00000333946
resolver
ensp
ENSP00000377594
resolver
ensp
ENSP00000486650
resolver
ensp
ENSP00000652668
resolver
ensp
ENSP00000652679
resolver
ensp
ENSP00000723909
resolver
enst
ENST00000629426
resolver
genesymbol
COQ6
resolver
hgnc
HGNC:20233
resolver
uniprot
A0A0D9SFJ1
resolver
uniprot
B7Z3K8
resolver
uniprot
Q53GG6
resolver
uniprot
Q86U30
resolver
uniprot
Q96CA1
resolver
uniprot
Q96CK2
resolver
uniprot_entry
A0A0D9SFJ1_HUMAN
resolver
uniprot_entry
COQ6_HUMAN
resolver
uniprot_sec
B7Z3K8
resolver
uniprot_sec
Q53GG6
resolver
uniprot_sec
Q86U30
resolver
uniprot_sec
Q96CA1
resolver
uniprot_sec
Q96CK2
resolver
amino_acid_sequence
MAARLVSRCGAVRAAPHSGPLVSWRRWSGASTDTVYDVVVSGGGLVGAAMACALGYDIHFHDKKILLLEAGPKKVLEKLSETYSNRVSSISPGSATLLSSFGAWDHICNMRYRAFRRMQVWDACSEALIMFDKDNLDDMGYIVENDVIMHALTKQLEAVSDRVTVLYRSKAIRYTWPCPFPMADSSPWVHITLGDGSTFQTKLLIGADGHNSGVRQAVGIQNVSWNYDQSAVVATLHLSEATENNVAWQRFLPSGPIALLPLSDTLSSLVWSTSHEHAAELVSMDEEKFVDAVNSAFWSDADHTDFIDTAGAMLQYAVSLLKPTKVSARQLPPSVARVDAKSRVLFPLGLGHAAEYVRPRVALIGDAAHRVHPLAGQGVNMGFGDISSLAHHLSTAAFNGKDLGSVSHLTGYETERQRHNTALLAATDLLKRLYSTSASPLVLLRTWGLQATNAVSPLKEQIMAFASK
uniprot
proteins
disease_involvement
DISEASE: Coenzyme Q10 deficiency, primary, 6 (COQ10D6) [MIM:614650]: An autosomal recessive disorder characterized by onset in infancy of severe progressive nephrotic syndrome resulting in end-stage renal failure and sensorineural deafness. Renal biopsy usually shows focal segmental glomerulosclerosis. {ECO:0000269|PubMed:21540551, ECO:0000269|PubMed:28044327}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Mutations in COQ6 may play a role in susceptibility to Schwannomatosis, a cancer predisposition syndrome in which patients develop multiple non-vestibular schwannomas, benign neoplasms that arise from Schwann cells of the cranial, peripheral, and autonomic nerves. {ECO:0000269|PubMed:24763291}.
uniprot
proteins
ec_number
1.14.15.45
uniprot
proteins
ec_number
1.14.15.46
uniprot
proteins
function
FUNCTION: FAD-dependent monooxygenase required for two non-consecutive steps during ubiquinone biosynthesis (PubMed:26260787, PubMed:38425362). Required for the C5-ring hydroxylation during ubiquinone biosynthesis by catalyzing the hydroxylation of 4-hydroxy-3-(all-trans-decaprenyl)benzoic acid to 3,4-dihydroxy-5-(all-trans-decaprenyl)benzoic acid (PubMed:26260787, PubMed:38425362). Also acts downstream of COQ4, for the C1-hydroxylation during ubiquinone biosynthesis by catalyzing the hydroxylation of 2-methoxy-6-(all-trans-decaprenyl)phenol to 2-methoxy-6-(all-trans-decaprenyl)benzene-1,4-diol (PubMed:38425362). The electrons required for the hydroxylation reaction are funneled indirectly to COQ6 from NADPH via a ferredoxin/ferredoxin reductase system composed of FDX2 and FDXR (PubMed:26260787, PubMed:38425362). {ECO:0000269|PubMed:26260787, ECO:0000269|PubMed:38425362}.
uniprot
proteins
mass_dalton
50870
uniprot
proteins
pathway_participation
PATHWAY: Cofactor biosynthesis; ubiquinone biosynthesis. {ECO:0000255|HAMAP-Rule:MF_03193, ECO:0000269|PubMed:38425362}.
uniprot
proteins
protein_family
UbiH/COQ6 family
uniprot
proteins
pubmed
10810093
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21540551
uniprot
proteins
pubmed
24270420
uniprot
proteins
pubmed
24763291
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26260787
uniprot
proteins
pubmed
27499296
uniprot
proteins
pubmed
28044327
uniprot
proteins
pubmed
38425362
uniprot
proteins
sequence_length
468
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000255|HAMAP-Rule:MF_03193, ECO:0000269|PubMed:27499296}; Peripheral membrane protein {ECO:0000255|HAMAP-Rule:MF_03193}; Matrix side {ECO:0000255|HAMAP-Rule:MF_03193}. Golgi apparatus {ECO:0000255|HAMAP-Rule:MF_03193}. Cell projection {ECO:0000255|HAMAP-Rule:MF_03193}. Note=Localizes to cell processes and Golgi apparatus in podocytes. {ECO:0000255|HAMAP-Rule:MF_03193}.
uniprot
proteins