InnateDB Protein
|
IDBP-32050.4
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
DPYS
|
Protein Name
|
dihydropyrimidinase
|
Synonyms
|
DHP; DHPase;
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000276651
|
InnateDB Gene
|
IDBG-32048 (DPYS)
|
Protein Structure
|
|
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.
|
Subcellular Localization |
|
Disease Associations |
Dihydropyrimidinase deficiency (DHPD) [MIM:222748]: A disorder characterized by dihydropyrimidinuria and associated with a variable clinical phenotype characterized by epileptic or convulsive attacks, dysmorphic features and severe developmental delay, and congenital microvillous atrophy. {ECO:0000269PubMed:9718352}. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
Tissue Specificity |
Liver and kidney.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
|
Predicted by orthology |
Total |
1 [view]
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR006680
Amidohydrolase 1
IPR011059
Metal-dependent hydrolase, composite domain
IPR011778
Hydantoinase/dihydropyrimidinase
|
PFAM |
PF01979
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q14117
|
PhosphoSite |
PhosphoSite-Q14117
|
TrEMBL |
|
UniProt Splice Variant |
|
Entrez Gene |
1807
|
UniGene |
Hs.713087
|
RefSeq |
NP_001376
|
HUGO |
HGNC:3013
|
OMIM |
613326
|
CCDS |
CCDS6302
|
HPRD |
01960
|
IMGT |
|
EMBL |
AB004678
BC034395
D78011
|
GenPept |
AAH34395
BAA11189
BAA33067
|
|
|