Human Gene DPYS (ENST00000351513.7) from GENCODE V44
  Description: Homo sapiens dihydropyrimidinase (DPYS), mRNA. (from RefSeq NM_001385)
RefSeq Summary (NM_001385): Dihydropyrimidinase catalyzes the conversion of 5,6-dihydrouracil to 3-ureidopropionate in pyrimidine metabolism. Dihydropyrimidinase is expressed at a high level in liver and kidney as a major 2.5-kb transcript and a minor 3.8-kb transcript. Defects in the DPYS gene are linked to dihydropyrimidinuria. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000351513.7
Gencode Gene: ENSG00000147647.13
Transcript (Including UTRs)
   Position: hg38 chr8:104,379,431-104,467,055 Size: 87,625 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg38 chr8:104,381,198-104,466,920 Size: 85,723 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:104,379,431-104,467,055)mRNA (may differ from genome)Protein (519 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DPYS_HUMAN
DESCRIPTION: RecName: Full=Dihydropyrimidinase; Short=DHP; Short=DHPase; EC=3.5.2.2; AltName: Full=Dihydropyrimidine amidohydrolase; AltName: Full=Hydantoinase;
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.
CATALYTIC ACTIVITY: 5,6-dihydrouracil + H(2)O = 3- ureidopropanoate.
COFACTOR: Binds 2 zinc ions per subunit.
SUBUNIT: Homotetramer (Probable).
TISSUE SPECIFICITY: Liver and kidney.
PTM: Carbamylation allows a single lysine to coordinate two zinc ions (By similarity).
DISEASE: Defects in DPYS are the cause of dihydropyrimidinase deficiency (DHPD) [MIM:222748]. DHPD is an autosomal recessive disorder characterized by dihydropyrimidinuria and associated with a variable clinical phenotype: epileptic or convulsive attacks, dysmorphic features and severe developmental delay, and congenital microvillous atrophy.
SIMILARITY: Belongs to the DHOase family. Hydantoinase/dihydropyrimidinase subfamily.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DPYS";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DPYS
Diseases sorted by gene-association score: dihydropyrimidinuria* (1688), dihydropyrimidine dehydrogenase deficiency (14), beta-ureidopropionase deficiency (11), pyrimidine metabolic disorder (10), adenine phosphoribosyltransferase deficiency (8), papillon-lefevre syndrome (6), xanthinuria (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 90.66 RPKM in Liver
Total median expression: 122.85 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -63.10135-0.467 Picture PostScript Text
3' UTR -73.70427-0.173 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006680 - Amidohydro_1
IPR011778 - Hydantoinase/dihydroPyrase
IPR011059 - Metal-dep_hydrolase_composite

Pfam Domains:
PF01979 - Amidohydrolase family

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2VR2 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q14117
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsemblWormBase 
Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence 
AlignmentAlignmentAlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0002058 uracil binding
GO:0002059 thymine binding
GO:0004157 dihydropyrimidinase activity
GO:0008270 zinc ion binding
GO:0016597 amino acid binding
GO:0016787 hydrolase activity
GO:0016810 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds
GO:0046872 metal ion binding
GO:0051219 phosphoprotein binding

Biological Process:
GO:0006208 pyrimidine nucleobase catabolic process
GO:0006210 thymine catabolic process
GO:0006212 uracil catabolic process
GO:0019482 beta-alanine metabolic process
GO:0019860 uracil metabolic process
GO:0046135 pyrimidine nucleoside catabolic process
GO:0051260 protein homooligomerization
GO:0051289 protein homotetramerization

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC034395 - Homo sapiens dihydropyrimidinase, mRNA (cDNA clone MGC:34608 IMAGE:5187250), complete cds.
D78011 - Homo sapiens mRNA for dihydropyrimidinase, complete cds.
JF432195 - Synthetic construct Homo sapiens clone IMAGE:100073358 dihydropyrimidinase (DPYS) gene, encodes complete protein.
KJ891066 - Synthetic construct Homo sapiens clone ccsbBroadEn_00460 DPYS gene, encodes complete protein.
KR710717 - Synthetic construct Homo sapiens clone CCSBHm_00016043 DPYS (DPYS) mRNA, encodes complete protein.
KR710718 - Synthetic construct Homo sapiens clone CCSBHm_00016044 DPYS (DPYS) mRNA, encodes complete protein.
KR710719 - Synthetic construct Homo sapiens clone CCSBHm_00016046 DPYS (DPYS) mRNA, encodes complete protein.
CU689878 - Synthetic construct Homo sapiens gateway clone IMAGE:100019759 5' read DPYS mRNA.
AF090901 - Homo sapiens clone HQ0195$ PRO0195 mRNA, complete cds.
JD245011 - Sequence 226035 from Patent EP1572962.
JD101311 - Sequence 82335 from Patent EP1572962.
JD540124 - Sequence 521148 from Patent EP1572962.
JD302755 - Sequence 283779 from Patent EP1572962.
AK311261 - Homo sapiens cDNA, FLJ18303.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00240 - Pyrimidine metabolism
hsa00410 - beta-Alanine metabolism
hsa00770 - Pantothenate and CoA biosynthesis
hsa00983 - Drug metabolism - other enzymes
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY-3982 - uracil degradation I (reductive)
PWY-6430 - thymine degradation
PWY-7209 - superpathway of pyrimidine ribonucleosides degradation

Reactome (by CSHL, EBI, and GO)

Protein Q14117 (Reactome details) participates in the following event(s):

R-HSA-73589 5,6-dihydrouracil + H2O => beta-ureidopropionate
R-HSA-73618 5,6-dihydrothymine + H2O => beta-ureidoisobutyrate
R-HSA-73621 Pyrimidine catabolism
R-HSA-8956319 Nucleobase catabolism
R-HSA-15869 Metabolism of nucleotides
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: DPYS_HUMAN, ENST00000351513.1, ENST00000351513.2, ENST00000351513.3, ENST00000351513.4, ENST00000351513.5, ENST00000351513.6, NM_001385, Q14117, uc003yly.1, uc003yly.2, uc003yly.3, uc003yly.4, uc003yly.5, uc003yly.6
UCSC ID: ENST00000351513.7
RefSeq Accession: NM_001385
Protein: Q14117 (aka DPYS_HUMAN)
CCDS: CCDS6302.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.