PDSS1
entrez
23590
canonical
uniprot
Q5T2R2
canonical
ensembl
ENSG00000148459
resolver
ensp
ENSP00000365388
resolver
ensp
ENSP00000614309
resolver
ensp
ENSP00000730303
resolver
genesymbol
PDSS1
resolver
genesymbol_syn
DPS1
resolver
genesymbol_syn
TPRT
resolver
hgnc
HGNC:17759
resolver
uniprot
Q53F75
resolver
uniprot
Q6P473
resolver
uniprot
Q86WQ8
resolver
uniprot
Q9Y2W5
resolver
uniprot_entry
DPS1_HUMAN
resolver
uniprot_sec
Q53F75
resolver
uniprot_sec
Q6P473
resolver
uniprot_sec
Q86WQ8
resolver
uniprot_sec
Q9Y2W5
resolver
amino_acid_sequence
MASRWWRWRRGCSWKPAARSPGPGSPGRAGPLGPSAAAEVRAQVHRRKGLDLSQIPYINLVKHLTSACPNVCRISRFHHTTPDSKTHSGEKYTDPFKLGWRDLKGLYEDIRKELLISTSELKEMSEYYFDGKGKAFRPIIVALMARACNIHHNNSRHVQASQRAIALIAEMIHTASLVHDDVIDDASSRRGKHTVNKIWGEKKAVLAGDLILSAASIALARIGNTTVISILTQVIEDLVRGEFLQLGSKENENERFAHYLEKTFKKTASLIANSCKAVSVLGCPDPVVHEIAYQYGKNVGIAFQLIDDVLDFTSCSDQMGKPTSADLKLGLATGPVLFACQQFPEMNAMIMRRFSLPGDVDRARQYVLQSDGVQQTTYLAQQYCHEAIREISKLRPSPERDALIQLSEIVLTRDK
uniprot
proteins
disease_involvement
DISEASE: Coenzyme Q10 deficiency, primary, 2 (COQ10D2) [MIM:614651]: An autosomal recessive multisystem disorder characterized by early-onset deafness, optic atrophy, mild intellectual disability, peripheral neuropathy, obesity, livedo reticularis, and cardiac valvulopathy. {ECO:0000269|PubMed:17332895}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.5.1.91
uniprot
proteins
function
FUNCTION: Heterotetrameric enzyme that catalyzes the condensation of farnesyl diphosphate (FPP), which acts as a primer, and isopentenyl diphosphate (IPP) to produce prenyl diphosphates of varying chain lengths and participates in the determination of the side chain of ubiquinone (PubMed:16262699). Supplies nona and decaprenyl diphosphate, the precursors for the side chain of the isoprenoid quinones ubiquinone-9 (Q9)and ubiquinone-10 (Q10) respectively (PubMed:16262699). The enzyme adds isopentenyl diphosphate molecules sequentially to farnesyl diphosphate with trans stereochemistry (PubMed:16262699). {ECO:0000269|PubMed:16262699}.
uniprot
proteins
mass_dalton
46261
uniprot
proteins
pathway_participation
PATHWAY: Cofactor biosynthesis; ubiquinone biosynthesis. {ECO:0000269|PubMed:16262699}.
uniprot
proteins
protein_family
FPP/GGPP synthase family
uniprot
proteins
pubmed
10972372
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16262699
uniprot
proteins
pubmed
17332895
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
34800366
uniprot
proteins
sequence_length
415
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:34800366}.
uniprot
proteins