DPYS (dihydropyrimidinase)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1807
Gene name Gene Name - the full gene name approved by the HGNC.
Dihydropyrimidinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DPYS
Synonyms (NCBI Gene) Gene synonyms aliases
DHP, DHPase
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q22.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(7)
SNP ID Visualize variation Clinical significance Consequence
rs61758444 G>A Pathogenic Coding sequence variant, genic downstream transcript variant, stop gained, non coding transcript variant
rs79080341 G>- Conflicting-interpretations-of-pathogenicity Coding sequence variant, genic downstream transcript variant, non coding transcript variant, frameshift variant
rs201258823 G>T Likely-pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs267606773 C>T Pathogenic Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs267606774 C>A Pathogenic Non coding transcript variant, missense variant, coding sequence variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(23)
GO ID Ontology Definition Evidence Reference
GO:0002058 Function Uracil binding IEA
GO:0002059 Function Thymine binding IEA
GO:0004157 Function Dihydropyrimidinase activity IBA 21873635
GO:0004157 Function Dihydropyrimidinase activity IDA 9718352, 10410956
GO:0004157 Function Dihydropyrimidinase activity IMP 18075467
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
613326 3013 ENSG00000147647
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q14117
Protein name Dihydropyrimidinase (DHP) (DHPase) (EC 3.5.2.2) (Dihydropyrimidine amidohydrolase) (Hydantoinase)
Protein 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-ami
PDB 2VR2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01979 Amidohydro_1 58 → 447 Amidohydrolase family Domain
Tissue specificity TISSUE SPECIFICITY: Liver and kidney.
Sequence
Sequence length 519
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Pyrimidine metabolism
beta-Alanine metabolism
Pantothenate and CoA biosynthesis
Drug metabolism - other enzymes
Metabolic pathways 		  Pyrimidine catabolism
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal
Disease term Disease name dbSNP ID References
Dihydropyrimidinase deficiency Dihydropyrimidinase deficiency rs121964923, rs267606773, rs121964924, rs267606774, rs201258823, rs61758444, rs200913682, rs201280871 28642038, 23732435, 20362666, 9718352
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Paget disease Osteitis Deformans, Paget Disease rs796051862, rs796051869, rs796051870, rs796052213, rs1555767678, rs869025582 21623375, 20436471
Show/Hide Unknown Diseases (3)
Unknown
Disease term Disease name Evidence References Source
Metabolic Syndrome Metabolic Syndrome GWAS
Otosclerosis Otosclerosis GWAS
Diabetes Diabetes GWAS
Show/Hide Text Mining Associations (12)
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 18446232
Colorectal Neoplasms Associate 18446232, 25915935
Death Associate 25193387
Dihydropyrimidinase Deficiency Inhibit 20362666
Dihydropyrimidinase Deficiency Associate 20362666, 25915935, 26771602
Dihydropyrimidine Dehydrogenase Deficiency Associate 20797317
Drug Related Side Effects and Adverse Reactions Associate 25915935, 32619063, 37946254
Immunologic Deficiency Syndromes Associate 32600357
Neoplasms Associate 27733154, 32619063
Papillon Lefevre Disease Associate 20797317