DPYS
entrez
1807
canonical
uniprot
Q14117
canonical
ensembl
ENSG00000147647
resolver
ensp
ENSP00000276651
resolver
ensp
ENSP00000578850
resolver
ensp
ENSP00000578851
resolver
ensp
ENSP00000578853
resolver
ensp
ENSP00000578854
resolver
ensp
ENSP00000578855
resolver
ensp
ENSP00000578856
resolver
ensp
ENSP00000578857
resolver
ensp
ENSP00000578859
resolver
ensp
ENSP00000578862
resolver
ensp
ENSP00000578867
resolver
ensp
ENSP00000578875
resolver
ensp
ENSP00000643644
resolver
ensp
ENSP00000780765
resolver
enst
ENST00000351513
resolver
enst
ENST00000908791
resolver
enst
ENST00000908792
resolver
enst
ENST00000908794
resolver
enst
ENST00000908795
resolver
enst
ENST00000908796
resolver
enst
ENST00000908798
resolver
enst
ENST00000908800
resolver
enst
ENST00000908816
resolver
genesymbol
DPYS
resolver
hgnc
HGNC:3013
resolver
uniprot_entry
DPYS_HUMAN
resolver
amino_acid_sequence
MAAPSRLLIRGGRVVNDDFSEVADVLVEDGVVRALGHDLLPPGGAPAGLRVLDAAGKLVLPGGIDTHTHMQFPFMGSRSIDDFHQGTKAALSGGTTMIIDFAIPQKGGSLIEAFETWRSWADPKVCCDYSLHVAVTWWSDQVKEEMKILVQDKGVNSFKMFMAYKDLYMVTDLELYEAFSRCKEIGAIAQVHAENGDLIAEGAKKMLALGITGPEGHELCRPEAVEAEATLRAITIASAVNCPLYIVHVMSKSAAKVIADARRDGKVVYGEPIAASLGTDGTHYWNKEWHHAAHHVMGPPLRPDPSTPDFLMNLLANDDLTTTGTDNCTFNTCQKALGKDDFTKIPNGVNGVEDRMSVIWEKGVHSGKMDENRFVAVTSTNAAKIFNLYPRKGRIAVGSDADIVIWDPKGTRTISAKTHHQAVNFNIFEGMVCHGVPLVTISRGKVVYEAGVFSVTAGDGKFIPRKPFAEYIYKRIKQRDRTCTPTPVERAPYKGEVATLKSRVTKEDATAGTRKQAHP
uniprot
proteins
disease_involvement
DISEASE: Dihydropyrimidinase deficiency (DPYSD) [MIM:222748]: An autosomal recessive disorder of pyrimidine metabolism characterized by dihydropyrimidinuria. It is associated with a variable clinical phenotype characterized by epileptic or convulsive attacks, dysmorphic features and severe developmental delay, and congenital microvillous atrophy. Most patients are, however, asymptomatic. {ECO:0000269|PubMed:9718352}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.5.2.2
uniprot
proteins
function
FUNCTION: Catalyzes the second step of the reductive pyrimidine degradation, the reversible hydrolytic ring opening of dihydropyrimidines. Can catalyze the ring opening of 5,6-dihydrouracil to N-carbamyl-alanine and of 5,6-dihydrothymine to N-carbamyl-amino isobutyrate.
uniprot
proteins
mass_dalton
56630
uniprot
proteins
post_translational_modification
PTM: Carboxylation allows a single lysine to coordinate two zinc ions. {ECO:0000250}.
uniprot
proteins
protein_family
Hydantoinase/dihydropyrimidinase family
uniprot
proteins
protein_family
Metallo-dependent hydrolases superfamily
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
8973361
uniprot
proteins
pubmed
9718352
uniprot
proteins
sequence_length
519
uniprot
proteins