• Gene id: 1807

Gene Summary

• Gene Symbol: DPYS   Gene   UCSC   Ensembl
• Aliases: DHP, DHPase
• Gene name: dihydropyrimidinase
• Alternate names: dihydropyrimidinase, dihydropyrimidine amidohydrolase, hydantoinase,
• Gene location: 8q22.3 (42359499: 42412316)     Exons: 26     NC_000015.10
• Gene summary(Entrez): 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
• OMIM: 613326

Protein Summary

• Protein general information: Q14117  
  • Name: Dihydropyrimidinase (DHP) (DHPase) (EC 3.5.2.2) (Dihydropyrimidine amidohydrolase) (Hydantoinase)
  • Length: 519  
  • Mass: 56630
  • Tissue specificity: Liver and kidney.
• Sequence:

  MAAPSRLLIRGGRVVNDDFSEVADVLVEDGVVRALGHDLLPPGGAPAGLRVLDAAGKLVLPGGIDTHTHMQFPFM
  GSRSIDDFHQGTKAALSGGTTMIIDFAIPQKGGSLIEAFETWRSWADPKVCCDYSLHVAVTWWSDQVKEEMKILV
  QDKGVNSFKMFMAYKDLYMVTDLELYEAFSRCKEIGAIAQVHAENGDLIAEGAKKMLALGITGPEGHELCRPEAV
  EAEATLRAITIASAVNCPLYIVHVMSKSAAKVIADARRDGKVVYGEPIAASLGTDGTHYWNKEWHHAAHHVMGPP
  LRPDPSTPDFLMNLLANDDLTTTGTDNCTFNTCQKALGKDDFTKIPNGVNGVEDRMSVIWEKGVHSGKMDENRFV
  AVTSTNAAKIFNLYPRKGRIAVGSDADIVIWDPKGTRTISAKTHHQAVNFNIFEGMVCHGVPLVTISRGKVVYEA
  GVFSVTAGDGKFIPRKPFAEYIYKRIKQRDRTCTPTPVERAPYKGEVATLKSRVTKEDATAGTRKQAHP

• Structural information:
  • Interpro: IPR006680  IPR011778  IPR011059  IPR032466  
  • CDD: cd01314
  • PDB: 2VR2
  • PDBsum: 2VR2
  • STRING: ENSP00000276651
• Other Databases: GeneCards:  DPYS  Malacards:  DPYS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004157	dihydropyrimidinase activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0006208	pyrimidine nucleobase catabolic process	IBA	biological process
GO:0016812	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	IBA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016810	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004157	dihydropyrimidinase activity	IEA	molecular function
GO:0046135	pyrimidine nucleoside catabolic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0042802	identical protein binding	IEA	molecular function
GO:0019482	beta-alanine metabolic process	IEA	biological process
GO:0002058	uracil binding	IEA	molecular function
GO:0051219	phosphoprotein binding	IEA	molecular function
GO:0032991	protein-containing complex	IEA	cellular component
GO:0019860	uracil metabolic process	IEA	biological process
GO:0016597	amino acid binding	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0006212	uracil catabolic process	IEA	biological process
GO:0006210	thymine catabolic process	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0004157	dihydropyrimidinase activity	IEA	molecular function
GO:0002059	thymine binding	IEA	molecular function
GO:0006208	pyrimidine nucleobase catabolic process	IDA	biological process
GO:0004157	dihydropyrimidinase activity	IDA	molecular function
GO:0006212	uracil catabolic process	IDA	biological process
GO:0004157	dihydropyrimidinase activity	IDA	molecular function
GO:0008270	zinc ion binding	NAS	molecular function
GO:0006212	uracil catabolic process	IMP	biological process
GO:0005829	cytosol	ISS	cellular component
GO:0004157	dihydropyrimidinase activity	IMP	molecular function
GO:0042802	identical protein binding	ISS	molecular function
GO:0006210	thymine catabolic process	ISS	biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00983	Drug metabolism - other enzymes
hsa00240	Pyrimidine metabolism
hsa00410	beta-Alanine metabolism
hsa00770	Pantothenate and CoA biosynthesis

Diseases

Associated diseases	References
Dihydropyrimidinase deficiency	KEGG:H00199
Dihydropyrimidinase deficiency	KEGG:H00199
Purine-pyrimidine metabolic disorder	PMID:9718352
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881