Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

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
rs546700169	G>A	Likely-pathogenic	Intron variant, coding sequence variant, stop gained, non coding transcript variant
rs879851088	C>G,T	Pathogenic	Splice acceptor variant

Show/Hide all(26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004157	Function	Dihydropyrimidinase activity	IBA
GO:0004157	Function	Dihydropyrimidinase activity	IDA	9718352, 10410956
GO:0004157	Function	Dihydropyrimidinase activity	IEA
GO:0004157	Function	Dihydropyrimidinase activity	IMP	18075467
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005829	Component	Cytosol	TAS
GO:0006208	Process	Pyrimidine nucleobase catabolic process	IBA
GO:0006208	Process	Pyrimidine nucleobase catabolic process	IDA	9718352
GO:0006210	Process	Thymine catabolic process	ISS
GO:0006212	Process	Uracil catabolic process	IDA	10410956
GO:0006212	Process	Uracil catabolic process	IMP	18075467
GO:0006248	Process	CMP catabolic process	IEA
GO:0006249	Process	DCMP catabolic process	IEA
GO:0008270	Function	Zinc ion binding	NAS	9718352
GO:0016787	Function	Hydrolase activity	IEA
GO:0016810	Function	Hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds	IEA
GO:0042802	Function	Identical protein binding	ISS
GO:0046050	Process	UMP catabolic process	IEA
GO:0046079	Process	DUMP catabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051219	Function	Phosphoprotein binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867

MIM	HGNC	e!Ensembl
613326	3013	ENSG00000147647

Protein

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

MAAPSRLLIRGGRVVNDDFSEVADVLVEDGVVRALGHDLLPPGGAPAGLRVLDAAGKLVL
PGGIDTHTHMQFPFMGSRSIDDFHQGTKAALSGGTTMIIDFAIPQKGGSLIEAFETWRSW
ADPKVCCDYSLHVAVTWWSDQVKEEMKILVQDKGVNSFKMFMAYKDLYMVTDLELYEAFS
RCKEIGAIAQVHAENGDLIAEGAKKMLALGITGPEGHELCRPEAVEAEATLRAITIASAV
NCPLYIVHVMSKSAAKVIADARRDGKVVYGEPIAASLGTDGTHYWNKEWHHAAHHVMGPP
LRPDPSTPDFLMNLLANDDLTTTGTDNCTFNTCQKALGKDDFTKIPNGVNGVEDRMSVIW
EKGVHSGKMDENRFVAVTSTNAAKIFNLYPRKGRIAVGSDADIVIWDPKGTRTISAKTHH
QAVNFNIFEGMVCHGVPLVTISRGKVVYEAGVFSVTAGDGKFIPRKPFAEYIYKRIKQRD
RTCTPTPVERAPYKGEVATLKSRVTKEDATAGTRKQAHP

Sequence length

519

Interactions

View interactions

	KEGG		Reactome
	Pyrimidine metabolism beta-Alanine metabolism Pantothenate and CoA biosynthesis Drug metabolism - other enzymes Metabolic pathways		Pyrimidine catabolism

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Dihydropyrimidinase Deficiency	dihydropyrimidinase deficiency	rs200913682, rs201280871, rs121964923, rs267606773, rs121964924, rs267606774, rs201258823, rs61758444	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Otosclerosis	Otosclerosis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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
Prostatic Neoplasms	Associate	18446232, 21694441, 27708246, 34777331
Uterine Cervical Dysplasia	Stimulate	24508839

DPYS (dihydropyrimidinase)