COQ4
entrez
51117
canonical
uniprot
Q9Y3A0
canonical
ensembl
ENSG00000167113
resolver
ensp
ENSP00000300452
resolver
ensp
ENSP00000763323
resolver
genesymbol
COQ4
resolver
hgnc
HGNC:19693
resolver
uniprot
A8WBK8
resolver
uniprot
B2R958
resolver
uniprot
Q5T4B8
resolver
uniprot
Q96EW4
resolver
uniprot_entry
COQ4_HUMAN
resolver
uniprot_sec
A8WBK8
resolver
uniprot_sec
B2R958
resolver
uniprot_sec
Q5T4B8
resolver
uniprot_sec
Q96EW4
resolver
amino_acid_sequence
MATLLRPVLRRLCGLPGLQRPAAEMPLRARSDGAGPLYSHHLPTSPLQKGLLAAGSAAMALYNPYRHDMVAVLGETTGHRTLKVLRDQMRRDPEGAQILQERPRISTSTLDLGKLQSLPEGSLGREYLRFLDVNRVSPDTRAPTRFVDDEELAYVIQRYREVHDMLHTLLGMPTNILGEIVVKWFEAVQTGLPMCILGAFFGPIRLGAQSLQVLVSELIPWAVQNGRRAPCVLNLYYERRWEQSLRALREELGITAPPMHVQGLA
uniprot
proteins
disease_involvement
DISEASE: Coenzyme Q10 deficiency, primary, 7 (COQ10D7) [MIM:616276]: An autosomal recessive disorder resulting from mitochondrial dysfunction and characterized by decreased levels of coenzyme Q10, and severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rarely, symptoms may have later onset. {ECO:0000269|PubMed:25658047, ECO:0000269|PubMed:26741492, ECO:0000269|PubMed:30659264, ECO:0000269|PubMed:31396399, ECO:0000269|PubMed:33215859, ECO:0000269|PubMed:33704555, ECO:0000269|PubMed:36047608}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Spastic ataxia 10, autosomal recessive (SPAX10) [MIM:620666]: A form of spastic ataxia, a heterogeneous group of progressive neurodegenerative disorders characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. SPAX10 is a slowly progressive form with age at onset ranging from infancy to adulthood. Some patients show cerebellar atrophy on brain imaging. {ECO:0000269|PubMed:30659264, ECO:0000269|PubMed:36047608, ECO:0000269|PubMed:38013626, ECO:0000269|PubMed:38014483}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
4.1.1.130
uniprot
proteins
function
FUNCTION: Lyase that catalyzes the C1-decarboxylation of 4-hydroxy-3-methoxy-5-(all-trans-decaprenyl)benzoic acid into 2-methoxy-6-(all-trans-decaprenyl)phenol during ubiquinone biosynthesis. {ECO:0000255|HAMAP-Rule:MF_03111, ECO:0000269|PubMed:38295803, ECO:0000269|PubMed:38425362}.
uniprot
proteins
mass_dalton
29657
uniprot
proteins
mutagenesis
MUTAGEN 163..167; /note="HDMLH->ADMLA: Abolished zinc-binding."; /evidence="ECO:0000269|PubMed:38295803"; MUTAGEN 164; /note="D->A: Abolished zinc-binding; when associated with A-179. Abolished zinc-binding and ability to promote formation of ubiquinone."; /evidence="ECO:0000269|PubMed:38295803
uniprot
proteins
pathway_participation
PATHWAY: Cofactor biosynthesis; ubiquinone biosynthesis. {ECO:0000255|HAMAP-Rule:MF_03111, ECO:0000269|PubMed:18474229, ECO:0000269|PubMed:30659264, ECO:0000269|PubMed:38014483, ECO:0000269|PubMed:38295803, ECO:0000269|PubMed:38425362}.
uniprot
proteins
protein_family
COQ4 family
uniprot
proteins
pubmed
10810093
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18474229
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25658047
uniprot
proteins
pubmed
26741492
uniprot
proteins
pubmed
27499296
uniprot
proteins
pubmed
30659264
uniprot
proteins
pubmed
31396399
uniprot
proteins
pubmed
33215859
uniprot
proteins
pubmed
33704555
uniprot
proteins
pubmed
36047608
uniprot
proteins
pubmed
38013626
uniprot
proteins
pubmed
38014483
uniprot
proteins
pubmed
38295803
uniprot
proteins
pubmed
38425362
uniprot
proteins
sequence_length
265
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000255|HAMAP-Rule:MF_03111, ECO:0000269|PubMed:27499296}; Peripheral membrane protein; Matrix side.
uniprot
proteins