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Protein

Dihydropyrimidinase

Gene

DPYS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.

Catalytic activityi

5,6-dihydrouracil + H2O = 3-ureidopropanoate.By similarity

Cofactori

Zn2+1 PublicationNote: Binds 2 Zn2+ ions per subunit.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi67Zinc 1Combined sources1 Publication1
Metal bindingi69Zinc 1Combined sources1 Publication1
Metal bindingi159Zinc 1; via carbamate groupCombined sources1 Publication1
Metal bindingi159Zinc 2; via carbamate groupCombined sources1 Publication1
Binding sitei164SubstrateBy similarity1
Metal bindingi192Zinc 2Combined sources1 Publication1
Metal bindingi248Zinc 2Combined sources1 Publication1
Metal bindingi326Zinc 1Combined sources1 Publication1
Binding sitei347Substrate; via carbonyl oxygenBy similarity1

GO - Molecular functioni

  • amino acid binding Source: Ensembl
  • dihydropyrimidinase activity Source: UniProtKB
  • phosphoprotein binding Source: Ensembl
  • thymine binding Source: Ensembl
  • uracil binding Source: Ensembl
  • zinc ion binding Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionHydrolase
LigandMetal-binding, Zinc

Enzyme and pathway databases

BioCyciMetaCyc:HS07460-MONOMER
ReactomeiR-HSA-73621 Pyrimidine catabolism

Protein family/group databases

MEROPSiM38.973

Names & Taxonomyi

Protein namesi
Recommended name:
Dihydropyrimidinase (EC:3.5.2.2By similarity)
Short name:
DHP
Short name:
DHPase
Alternative name(s):
Dihydropyrimidine amidohydrolase
Hydantoinase
Gene namesi
Name:DPYS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000147647.12
HGNCiHGNC:3013 DPYS
MIMi613326 gene
neXtProtiNX_Q14117

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Dihydropyrimidinase deficiency (DPYSD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:222748
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00226768T → R in DPYSD. 1 Publication1
Natural variantiVAR_002268334Q → R in DPYSD. 1 PublicationCorresponds to variant dbSNP:rs121964923EnsemblClinVar.1
Natural variantiVAR_002269360W → R in DPYSD. 1 PublicationCorresponds to variant dbSNP:rs121964924EnsemblClinVar.1
Natural variantiVAR_002270435G → R in DPYSD. 1 PublicationCorresponds to variant dbSNP:rs267606773EnsemblClinVar.1
Natural variantiVAR_002271490R → T in DPYSD. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi1807
MalaCardsiDPYS
MIMi222748 phenotype
OpenTargetsiENSG00000147647
Orphaneti38874 Dihydropyrimidinuria
PharmGKBiPA146

Chemistry databases

ChEMBLiCHEMBL2465

Polymorphism and mutation databases

BioMutaiDPYS
DMDMi3122049

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001659061 – 519DihydropyrimidinaseAdd BLAST519

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei79PhosphoserineCombined sources1
Modified residuei159N6-carboxylysineBy similarity1
Modified residuei256N6-succinyllysineBy similarity1
Modified residuei510PhosphothreonineBy similarity1

Post-translational modificationi

Carbamylation allows a single lysine to coordinate two zinc ions.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ14117
PaxDbiQ14117
PeptideAtlasiQ14117
PRIDEiQ14117
ProteomicsDBi59824

PTM databases

iPTMnetiQ14117
PhosphoSitePlusiQ14117

Expressioni

Tissue specificityi

Liver and kidney.

Gene expression databases

BgeeiENSG00000147647 Expressed in 109 organ(s), highest expression level in right lobe of liver
CleanExiHS_DPYS
ExpressionAtlasiQ14117 baseline and differential
GenevisibleiQ14117 HS

Organism-specific databases

HPAiHPA024785

Interactioni

Subunit structurei

Homotetramer.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108141, 6 interactors
IntActiQ14117, 1 interactor
STRINGi9606.ENSP00000276651

Structurei

Secondary structure

1519
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ14117
SMRiQ14117
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ14117

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG2584 Eukaryota
COG0044 LUCA
GeneTreeiENSGT00760000119241
HOGENOMiHOG000219145
HOVERGENiHBG000806
InParanoidiQ14117
KOiK01464
OMAiIDPQVHF
OrthoDBiEOG091G05F3
PhylomeDBiQ14117
TreeFamiTF314706

Family and domain databases

CDDicd01314 D-HYD, 1 hit
Gene3Di2.30.40.10, 2 hits
InterProiView protein in InterPro
IPR006680 Amidohydro-rel
IPR011778 Hydantoinase/dihydroPyrase
IPR011059 Metal-dep_hydrolase_composite
IPR032466 Metal_Hydrolase
PfamiView protein in Pfam
PF01979 Amidohydro_1, 1 hit
SUPFAMiSSF51338 SSF51338, 2 hits
SSF51556 SSF51556, 1 hit
TIGRFAMsiTIGR02033 D-hydantoinase, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

Q14117-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAAPSRLLIR GGRVVNDDFS EVADVLVEDG VVRALGHDLL PPGGAPAGLR
60 70 80 90 100
VLDAAGKLVL PGGIDTHTHM QFPFMGSRSI DDFHQGTKAA LSGGTTMIID
110 120 130 140 150
FAIPQKGGSL IEAFETWRSW ADPKVCCDYS LHVAVTWWSD QVKEEMKILV
160 170 180 190 200
QDKGVNSFKM FMAYKDLYMV TDLELYEAFS RCKEIGAIAQ VHAENGDLIA
210 220 230 240 250
EGAKKMLALG ITGPEGHELC RPEAVEAEAT LRAITIASAV NCPLYIVHVM
260 270 280 290 300
SKSAAKVIAD ARRDGKVVYG EPIAASLGTD GTHYWNKEWH HAAHHVMGPP
310 320 330 340 350
LRPDPSTPDF LMNLLANDDL TTTGTDNCTF NTCQKALGKD DFTKIPNGVN
360 370 380 390 400
GVEDRMSVIW EKGVHSGKMD ENRFVAVTST NAAKIFNLYP RKGRIAVGSD
410 420 430 440 450
ADIVIWDPKG TRTISAKTHH QAVNFNIFEG MVCHGVPLVT ISRGKVVYEA
460 470 480 490 500
GVFSVTAGDG KFIPRKPFAE YIYKRIKQRD RTCTPTPVER APYKGEVATL
510
KSRVTKEDAT AGTRKQAHP
Length:519
Mass (Da):56,630
Last modified:November 1, 1996 - v1
Checksum:i882E33D7C49D6ECC
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YEV7H0YEV7_HUMAN
Dihydropyrimidinase
DPYS
54Annotation score:
E5RG28E5RG28_HUMAN
Dihydropyrimidinase
DPYS
150Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00226768T → R in DPYSD. 1 Publication1
Natural variantiVAR_002268334Q → R in DPYSD. 1 PublicationCorresponds to variant dbSNP:rs121964923EnsemblClinVar.1
Natural variantiVAR_002269360W → R in DPYSD. 1 PublicationCorresponds to variant dbSNP:rs121964924EnsemblClinVar.1
Natural variantiVAR_002270435G → R in DPYSD. 1 PublicationCorresponds to variant dbSNP:rs267606773EnsemblClinVar.1
Natural variantiVAR_002271490R → T in DPYSD. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D78011 mRNA Translation: BAA11189.1
AB004678 Genomic DNA Translation: BAA33067.1
BC034395 mRNA Translation: AAH34395.1
CCDSiCCDS6302.1
PIRiJC5315
RefSeqiNP_001376.1, NM_001385.2
UniGeneiHs.443161

Genome annotation databases

EnsembliENST00000351513; ENSP00000276651; ENSG00000147647
GeneIDi1807
KEGGihsa:1807
UCSCiuc003yly.5 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D78011 mRNA Translation: BAA11189.1
AB004678 Genomic DNA Translation: BAA33067.1
BC034395 mRNA Translation: AAH34395.1
CCDSiCCDS6302.1
PIRiJC5315
RefSeqiNP_001376.1, NM_001385.2
UniGeneiHs.443161

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2VR2X-ray2.80A1-519[»]
ProteinModelPortaliQ14117
SMRiQ14117
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108141, 6 interactors
IntActiQ14117, 1 interactor
STRINGi9606.ENSP00000276651

Chemistry databases

ChEMBLiCHEMBL2465

Protein family/group databases

MEROPSiM38.973

PTM databases

iPTMnetiQ14117
PhosphoSitePlusiQ14117

Polymorphism and mutation databases

BioMutaiDPYS
DMDMi3122049

Proteomic databases

MaxQBiQ14117
PaxDbiQ14117
PeptideAtlasiQ14117
PRIDEiQ14117
ProteomicsDBi59824

Protocols and materials databases

DNASUi1807
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000351513; ENSP00000276651; ENSG00000147647
GeneIDi1807
KEGGihsa:1807
UCSCiuc003yly.5 human

Organism-specific databases

CTDi1807
DisGeNETi1807
EuPathDBiHostDB:ENSG00000147647.12
GeneCardsiDPYS
HGNCiHGNC:3013 DPYS
HPAiHPA024785
MalaCardsiDPYS
MIMi222748 phenotype
613326 gene
neXtProtiNX_Q14117
OpenTargetsiENSG00000147647
Orphaneti38874 Dihydropyrimidinuria
PharmGKBiPA146
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2584 Eukaryota
COG0044 LUCA
GeneTreeiENSGT00760000119241
HOGENOMiHOG000219145
HOVERGENiHBG000806
InParanoidiQ14117
KOiK01464
OMAiIDPQVHF
OrthoDBiEOG091G05F3
PhylomeDBiQ14117
TreeFamiTF314706

Enzyme and pathway databases

BioCyciMetaCyc:HS07460-MONOMER
ReactomeiR-HSA-73621 Pyrimidine catabolism

Miscellaneous databases

EvolutionaryTraceiQ14117
GeneWikiiDPYS
GenomeRNAii1807
PROiPR:Q14117
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000147647 Expressed in 109 organ(s), highest expression level in right lobe of liver
CleanExiHS_DPYS
ExpressionAtlasiQ14117 baseline and differential
GenevisibleiQ14117 HS

Family and domain databases

CDDicd01314 D-HYD, 1 hit
Gene3Di2.30.40.10, 2 hits
InterProiView protein in InterPro
IPR006680 Amidohydro-rel
IPR011778 Hydantoinase/dihydroPyrase
IPR011059 Metal-dep_hydrolase_composite
IPR032466 Metal_Hydrolase
PfamiView protein in Pfam
PF01979 Amidohydro_1, 1 hit
SUPFAMiSSF51338 SSF51338, 2 hits
SSF51556 SSF51556, 1 hit
TIGRFAMsiTIGR02033 D-hydantoinase, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiDPYS_HUMAN
AccessioniPrimary (citable) accession number: Q14117
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: November 1, 1996
Last modified: September 12, 2018
This is version 164 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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