DPYD
entrez
1806
canonical
uniprot
Q12882
canonical
ensembl
ENSG00000188641
resolver
ensp
ENSP00000307107
resolver
ensp
ENSP00000359211
resolver
ensp
ENSP00000546397
resolver
ensp
ENSP00000546398
resolver
ensp
ENSP00000777405
resolver
genesymbol
DPYD
resolver
hgnc
HGNC:3012
resolver
uniprot
A2RRQ2
resolver
uniprot
A2RRQ3
resolver
uniprot
A8K5A2
resolver
uniprot
A8MWG9
resolver
uniprot
B1AN21
resolver
uniprot
E9PFN1
resolver
uniprot
Q16694
resolver
uniprot
Q16761
resolver
uniprot
Q32NB0
resolver
uniprot
Q96HL6
resolver
uniprot
Q96TH1
resolver
uniprot_entry
DPYD_HUMAN
resolver
uniprot_sec
A2RRQ2
resolver
uniprot_sec
A2RRQ3
resolver
uniprot_sec
A8K5A2
resolver
uniprot_sec
A8MWG9
resolver
uniprot_sec
B1AN21
resolver
uniprot_sec
E9PFN1
resolver
uniprot_sec
Q16694
resolver
uniprot_sec
Q16761
resolver
uniprot_sec
Q32NB0
resolver
uniprot_sec
Q96HL6
resolver
uniprot_sec
Q96TH1
resolver
amino_acid_sequence
MAPVLSKDSADIESILALNPRTQTHATLCSTSAKKLDKKHWKRNPDKNCFNCEKLENNFDDIKHTTLGERGALREAMRCLKCADAPCQKSCPTNLDIKSFITSIANKNYYGAAKMIFSDNPLGLTCGMVCPTSDLCVGGCNLYATEEGPINIGGLQQFATEVFKAMSIPQIRNPSLPPPEKMSEAYSAKIALFGAGPASISCASFLARLGYSDITIFEKQEYVGGLSTSEIPQFRLPYDVVNFEIELMKDLGVKIICGKSLSVNEMTLSTLKEKGYKAAFIGIGLPEPNKDAIFQGLTQDQGFYTSKDFLPLVAKGSKAGMCACHSPLPSIRGVVIVLGAGDTAFDCATSALRCGARRVFIVFRKGFVNIRAVPEEMELAKEEKCEFLPFLSPRKVIVKGGRIVAMQFVRTEQDETGKWNEDEDQMVHLKADVVISAFGSVLSDPKVKEALSPIKFNRWGLPEVDPETMQTSEAWVFAGGDVVGLANTTVESVNDGKQASWYIHKYVQSQYGASVSAKPELPLFYTPIDLVDISVEMAGLKFINPFGLASATPATSTSMIRRAFEAGWGFALTKTFSLDKDIVTNVSPRIIRGTTSGPMYGPGQSSFLNIELISEKTAAYWCQSVTELKADFPDNIVIASIMCSYNKNDWTELAKKSEDSGADALELNLSCPHGMGERGMGLACGQDPELVRNICRWVRQAVQIPFFAKLTPNVTDIVSIARAAKEGGANGVTATNTVSGLMGLKSDGTPWPAVGIAKRTTYGGVSGTAIRPIALRAVTSIARALPGFPILATGGIDSAESGLQFLHSGASVLQVCSAIQNQDFTVIEDYCTGLKALLYLKSIEELQDWDGQSPATVSHQKGKPVPRIAELMDKKLPSFGPYLEQRKKIIAENKIRLKEQNVAFSPLKRNCFIPKRPIPTIKDVIGKALQYLGTFGELSNVEQVVAMIDEEMCINCGKCYMTCNDSGYQAIQFDPETHLPTITDTCTGCTLCLSVCPIVDCIKMVSRTTPYEPKRGVPLSVNPVC
uniprot
proteins
disease_involvement
DISEASE: Dihydropyrimidine dehydrogenase deficiency (DPYDD) [MIM:274270]: A metabolic disorder with large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and intellectual disability. It is characterized by persistent urinary excretion of excessive amounts of uracil, thymine and 5-hydroxymethyluracil. Patients suffering from this disease show a severe reaction to the anticancer drug 5-fluorouracil. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:16710414, ECO:0000269|PubMed:9266349, ECO:0000269|PubMed:9439663}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.3.1.2
uniprot
proteins
function
FUNCTION: Catalyzes the reduction of uracil and thymine in the initial step of reductive pyrimidine catabolism, a pathway that yields beta-alanine from uracil and beta-aminoisobutyrate from thymine (PubMed:1512248). Also capable of degrading the chemotherapeutic drug 5-fluorouracil (PubMed:1512248). {ECO:0000269|PubMed:1512248}.
uniprot
proteins
mass_dalton
111401
uniprot
proteins
pathway_participation
PATHWAY: Amino-acid biosynthesis; beta-alanine biosynthesis. {ECO:0000269|PubMed:1512248}.
uniprot
proteins
protein_family
Dihydropyrimidine dehydrogenase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
1512248
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
18987736
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
8083224
uniprot
proteins
pubmed
8892022
uniprot
proteins
pubmed
9135003
uniprot
proteins
pubmed
9170156
uniprot
proteins
pubmed
9266349
uniprot
proteins
pubmed
9439663
uniprot
proteins
pubmed
9464498
uniprot
proteins
pubmed
9472650
uniprot
proteins
pubmed
9723824
uniprot
proteins
sequence_length
1025
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:O89000}.
uniprot
proteins