COQ5
entrez
84274
canonical
uniprot
Q5HYK3
canonical
ensembl
ENSG00000110871
resolver
ensp
ENSP00000288532
resolver
ensp
ENSP00000449863
resolver
enst
ENST00000288532
resolver
genesymbol
COQ5
resolver
hgnc
HGNC:28722
resolver
uniprot
B2RDU9
resolver
uniprot
B3GK62
resolver
uniprot
B4DEJ4
resolver
uniprot
Q32Q28
resolver
uniprot
Q53HH0
resolver
uniprot
Q96LV1
resolver
uniprot
Q9BSP8
resolver
uniprot_entry
COQ5_HUMAN
resolver
uniprot_sec
B2RDU9
resolver
uniprot_sec
B3GK62
resolver
uniprot_sec
B4DEJ4
resolver
uniprot_sec
Q32Q28
resolver
uniprot_sec
Q53HH0
resolver
uniprot_sec
Q96LV1
resolver
uniprot_sec
Q9BSP8
resolver
amino_acid_sequence
MAAPGSCALWSYCGRGWSRAMRGCQLLGLRSSWPGDLLSARLLSQEKRAAETHFGFETVSEEEKGGKVYQVFESVAKKYDVMNDMMSLGIHRVWKDLLLWKMHPLPGTQLLDVAGGTGDIAFRFLNYVQSQHQRKQKRQLRAQQNLSWEEIAKEYQNEEDSLGGSRVVVCDINKEMLKVGKQKALAQGYRAGLAWVLGDAEELPFDDDKFDIYTIAFGIRNVTHIDQALQEAHRVLKPGGRFLCLEFSQVNNPLISRLYDLYSFQVIPVLGEVIAGDWKSYQYLVESIRRFPSQEEFKDMIEDAGFHKVTYESLTSGIVAIHSGFKL
uniprot
proteins
disease_involvement
DISEASE: Coenzyme Q10 deficiency, primary, 9 (COQ10D9) [MIM:619028]: 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. COQ10D9 patients show cerebellar ataxia with cerebellar atrophy. Additional features include generalized tonic-clonic seizures, and cognitive disability. Disease onset is in the first decade of life. {ECO:0000269|PubMed:29044765}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.1.1.201
uniprot
proteins
function
FUNCTION: Methyltransferase required for the conversion of 2-decaprenyl-6-methoxy-1,4-benzoquinol (DDMQH2) to 2-decaprenyl-3-methyl-6-methoxy-1,4-benzoquinol (DMQH2). {ECO:0000255|HAMAP-Rule:MF_03191, ECO:0000269|PubMed:38425362}.
uniprot
proteins
mass_dalton
37140
uniprot
proteins
pathway_participation
PATHWAY: Cofactor biosynthesis; ubiquinone biosynthesis. {ECO:0000255|HAMAP-Rule:MF_03191, ECO:0000269|PubMed:25152161, ECO:0000269|PubMed:38425362}.
uniprot
proteins
protein_family
Class I-like SAM-binding methyltransferase superfamily
uniprot
proteins
protein_family
MenG/UbiE family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25152161
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27499296
uniprot
proteins
pubmed
29044765
uniprot
proteins
pubmed
35614220
uniprot
proteins
pubmed
38425362
uniprot
proteins
sequence_length
327
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000255|HAMAP-Rule:MF_03191, ECO:0000269|PubMed:25152161, ECO:0000269|PubMed:27499296, ECO:0000269|PubMed:35614220}; Peripheral membrane protein {ECO:0000255|HAMAP-Rule:MF_03191, ECO:0000269|PubMed:25152161}; Matrix side {ECO:0000255|HAMAP-Rule:MF_03191, ECO:0000269|PubMed:25152161}.
uniprot
proteins