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Aliases for DPYS Gene

Aliases for DPYS Gene

  • Dihydropyrimidinase 2 3 5
  • Dihydropyrimidine Amidohydrolase 3 4
  • Hydantoinase 3 4
  • EC 3.5.2.2 4 63
  • DHPase 3 4
  • DHP 3 4

External Ids for DPYS Gene

Previous GeneCards Identifiers for DPYS Gene

  • GC08M105459
  • GC08M105060
  • GC08M105348
  • GC08M105460
  • GC08M105391
  • GC08M100592

Summaries for DPYS Gene

Entrez Gene Summary for DPYS 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 the DPYS gene are linked to dihydropyrimidinuria. [provided by RefSeq, Jul 2008]

GeneCards Summary for DPYS Gene

DPYS (Dihydropyrimidinase) is a Protein Coding gene. Diseases associated with DPYS include Dihydropyrimidinuria and Dihydropyrimidine Dehydrogenase Deficiency. Among its related pathways are Purine metabolism and Pantothenate and CoA biosynthesis. GO annotations related to this gene include hydrolase activity and amino acid binding. An important paralog of this gene is CRMP1.

UniProtKB/Swiss-Prot for DPYS Gene

  • 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.

Gene Wiki entry for DPYS Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DPYS Gene

Genomics for DPYS Gene

Regulatory Elements for DPYS Gene

Enhancers for DPYS Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DPYS on UCSC Golden Path with GeneCards custom track

Genomic Location for DPYS Gene

Chromosome:
8
Start:
104,330,324 bp from pter
End:
104,467,053 bp from pter
Size:
136,730 bases
Orientation:
Minus strand

Genomic View for DPYS Gene

Genes around DPYS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DPYS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DPYS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DPYS Gene

Proteins for DPYS Gene

  • Protein details for DPYS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14117-DPYS_HUMAN
    Recommended name:
    Dihydropyrimidinase
    Protein Accession:
    Q14117

    Protein attributes for DPYS Gene

    Size:
    519 amino acids
    Molecular mass:
    56630 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for DPYS Gene

neXtProt entry for DPYS Gene

Proteomics data for DPYS Gene at MOPED

Selected DME Specific Peptides for DPYS Gene

Post-translational modifications for DPYS Gene

  • Carbamylation allows a single lysine to coordinate two zinc ions.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DPYS Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for DPYS Gene

Suggested Antigen Peptide Sequences for DPYS Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q14117

UniProtKB/Swiss-Prot:

DPYS_HUMAN :
  • Belongs to the DHOase family. Hydantoinase/dihydropyrimidinase subfamily.
Family:
  • Belongs to the DHOase family. Hydantoinase/dihydropyrimidinase subfamily.
genes like me logo Genes that share domains with DPYS: view

No data available for Gene Families for DPYS Gene

Function for DPYS Gene

Molecular function for DPYS Gene

GENATLAS Biochemistry:
dihydropyrimidinase
UniProtKB/Swiss-Prot CatalyticActivity:
5,6-dihydrouracil + H(2)O = 3-ureidopropanoate.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for DPYS Gene

Gene Ontology (GO) - Molecular Function for DPYS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002058 uracil binding IEA --
GO:0008270 zinc ion binding IEA,NAS 9718352
GO:0016597 amino acid binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with DPYS: view
genes like me logo Genes that share phenotypes with DPYS: view

Human Phenotype Ontology for DPYS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DPYS Gene

Localization for DPYS Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DPYS Gene COMPARTMENTS Subcellular localization image for DPYS gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 2
cytoskeleton 1
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for DPYS Gene

Pathways & Interactions for DPYS Gene

genes like me logo Genes that share pathways with DPYS: view

Gene Ontology (GO) - Biological Process for DPYS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006206 pyrimidine nucleobase metabolic process TAS --
GO:0006208 pyrimidine nucleobase catabolic process IDA 9718352
GO:0008152 metabolic process IEA --
GO:0019482 beta-alanine metabolic process IEA --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with DPYS: view

No data available for SIGNOR curated interactions for DPYS Gene

Drugs & Compounds for DPYS Gene

(6) Drugs for DPYS Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(16) Additional Compounds for DPYS Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
dihydrouracil
  • 5,6-Dihydro-2,4(1H,3H)-pyrimidinedione
  • 5,6-Dihydro-2,4-dihydroxypyrimidine
  • 5,6-Dihydrouracil
  • Dihydro-2,4(1H,3H)-pyrimidinedione
  • Dihydro-pyrimidine-2,4-dione
504-07-4
5,6-Dihydro-5-fluorouracil
alpha-Fluoro-beta-ureidopropionic acid
Dihydrothymine
  • 5,6-Dihydro-5-methyluracil
  • 5,6-Dihydrothymine
  • 5-Methyl-5,6-dihydrouracil
  • 5-Methyl-Hydrouracil
  • 5-Methyldihydropyrimidine-2,4(1H,3H)-dione
696-04-8
Ureidoisobutyric acid
  • 3-Carbamoylamino-2-methylpropanoate
  • 3-Carbamoylamino-2-methylpropanoic acid
  • 3-Ureidoisobutyrate
  • 3-Ureidoisobutyric acid
  • beta-Uba
2905-86-4
genes like me logo Genes that share compounds with DPYS: view

Transcripts for DPYS Gene

Unigene Clusters for DPYS Gene

Dihydropyrimidinase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DPYS Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13
SP1: - - - - -
SP2: - - -
SP3: -
SP4:
SP5: -
SP6: - -

Relevant External Links for DPYS Gene

GeneLoc Exon Structure for
DPYS
ECgene alternative splicing isoforms for
DPYS

Expression for DPYS Gene

mRNA expression in normal human tissues for DPYS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DPYS Gene

This gene is overexpressed in Liver (x36.6) and Kidney - Cortex (x11.8).

Protein differential expression in normal tissues from HIPED for DPYS Gene

This gene is overexpressed in Liver, secretome (42.6) and Liver (12.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DPYS Gene



SOURCE GeneReport for Unigene cluster for DPYS Gene Hs.443161

mRNA Expression by UniProt/SwissProt for DPYS Gene

Q14117-DPYS_HUMAN
Tissue specificity: Liver and kidney.
genes like me logo Genes that share expression patterns with DPYS: view

Protein tissue co-expression partners for DPYS Gene

- Elite partner

Primer Products

Orthologs for DPYS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DPYS Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DPYS 35
  • 88.37 (n)
  • 90.31 (a)
DPYS 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DPYS 35
  • 89.45 (n)
  • 92.47 (a)
DPYS 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dpys 35
  • 86.04 (n)
  • 88.61 (a)
Dpys 16
Dpys 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DPYS 35
  • 99.49 (n)
  • 99.22 (a)
DPYS 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dpys 35
  • 86.49 (n)
  • 90.15 (a)
oppossum
(Monodelphis domestica)
Mammalia DPYS 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DPYS 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves DPYS 35
  • 72.18 (n)
  • 76.21 (a)
DPYS 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DPYS 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dpys 35
  • 73.12 (n)
  • 79.23 (a)
zebrafish
(Danio rerio)
Actinopterygii dpys 35
  • 69.69 (n)
  • 75.4 (a)
dpys 36
  • 75 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CRMP 37
  • 55 (a)
CRMP 35
  • 59.42 (n)
  • 59.07 (a)
CG6106 36
  • 22 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003124 35
  • 59.01 (n)
  • 59.87 (a)
worm
(Caenorhabditis elegans)
Secernentea dhp-1 37
  • 54 (a)
dhp-2 37
  • 58 (a)
unc-33 37
  • 35 (a)
dhp-2 35
  • 57.78 (n)
  • 58.68 (a)
dhp-1 36
  • 55 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DAL1 36
  • 22 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons PYD2 35
  • 53.53 (n)
  • 48.34 (a)
soybean
(Glycine max)
eudicotyledons Gma.3611 35
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.718 35
rice
(Oryza sativa)
Liliopsida Os.33610 35
Os01g0807900 35
  • 55.18 (n)
  • 50 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.18843 35
corn
(Zea mays)
Liliopsida Zm.2131 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 63 (a)
OneToOne
Species with no ortholog for DPYS:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for DPYS Gene

ENSEMBL:
Gene Tree for DPYS (if available)
TreeFam:
Gene Tree for DPYS (if available)

Paralogs for DPYS Gene

Paralogs for DPYS Gene

(5) SIMAP similar genes for DPYS Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with DPYS: view

Variants for DPYS Gene

Sequence variations from dbSNP and Humsavar for DPYS Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
VAR_002267 Dihydropyrimidinase deficiency (DPYSD)
VAR_002268 Dihydropyrimidinase deficiency (DPYSD)
VAR_002269 Dihydropyrimidinase deficiency (DPYSD)
VAR_002270 Dihydropyrimidinase deficiency (DPYSD)
VAR_002271 Dihydropyrimidinase deficiency (DPYSD)

Structural Variations from Database of Genomic Variants (DGV) for DPYS Gene

Variant ID Type Subtype PubMed ID
nsv6337 CNV Insertion 18451855
nsv831417 CNV Loss 17160897

Variation tolerance for DPYS Gene

Residual Variation Intolerance Score: 24.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.87; 59.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DPYS Gene

Human Gene Mutation Database (HGMD)
DPYS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DPYS Gene

Disorders for DPYS Gene

MalaCards: The human disease database

(7) MalaCards diseases for DPYS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
dihydropyrimidinuria
  • dihydropyrimidinase deficiency
dihydropyrimidine dehydrogenase deficiency
  • dihydropyrimidinuria
beta-ureidopropionase deficiency
  • beta-ureidopropionase
pyrimidine metabolic disorder
  • pyrimidine metabolism disorder
adenine phosphoribosyltransferase deficiency
  • 2,8-dihydroxyadenine urolithiasis
- elite association - COSMIC cancer census association via MalaCards
Search DPYS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DPYS_HUMAN
  • Dihydropyrimidinase deficiency (DPYSD) [MIM:222748]: An 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. {ECO:0000269 PubMed:9718352}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DPYS

Genetic Association Database (GAD)
DPYS
Human Genome Epidemiology (HuGE) Navigator
DPYS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DPYS
genes like me logo Genes that share disorders with DPYS: view

No data available for Genatlas for DPYS Gene

Publications for DPYS Gene

  1. A novel gene family defined by human dihydropyrimidinase and three related proteins with differential tissue distribution. (PMID: 8973361) Hamajima N. … Nonaka M. (Gene 1996) 2 3 4 23 67
  2. Contribution of dihydropyrimidinase gene alterations to the development of serious toxicity in fluoropyrimidine-treated cancer patients. (PMID: 19649633) Fidlerova J. … Kleibl Z. (Cancer Chemother. Pharmacol. 2010) 3 23
  3. Genetic regulation of beta-ureidopropionase and its possible implication in altered uracil catabolism. (PMID: 18216719) Thomas H.R. … Diasio R.B. (Pharmacogenet. Genomics 2008) 3 23
  4. Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency. (PMID: 17383919) van Kuilenburg A.B. … Bosch A.M. (Mol. Genet. Metab. 2007) 3 23
  5. Genetic regulation of dihydropyrimidinase and its possible implication in altered uracil catabolism. (PMID: 18075467) Thomas H.R. … Diasio R.B. (Pharmacogenet. Genomics 2007) 3 23

Products for DPYS Gene

Sources for DPYS Gene

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