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Aliases for DPYS Gene

Aliases for DPYS Gene

  • Dihydropyrimidinase 2 3
  • DHP 3 4 6
  • Dihydropyrimidine Amidohydrolase 3 4
  • Hydantoinase 3 4
  • EC 3.5.2.2 4 64
  • DHPase 3 4

External Ids for DPYS Gene

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 beriberi. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include phosphoprotein binding and dihydropyrimidinase activity. 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

Genomic Location for DPYS Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DPYS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DPYS Gene

Regulatory Elements 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
    Secondary Accessions:

    Protein attributes for DPYS Gene

    Size:
    519 amino acids
    Molecular mass:
    56630 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Note=Binds 2 Zn(2+) ions per subunit.;
    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:
Reactome Protein details:
REFSEQ proteins:

Domains for DPYS Gene

UniProtKB/Swiss-Prot:

DPYS_HUMAN
Family:
  • Belongs to the DHOase family. Hydantoinase/dihydropyrimidinase subfamily.:
    • Q14117
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:0002059 thymine binding IEA --
GO:0004157 dihydropyrimidinase activity TAS --
GO:0008270 zinc ion binding NAS 9718352
GO:0016597 amino acid binding IEA --
genes like me logo Genes that share ontologies with DPYS: view

Phenotypes for DPYS Gene

GenomeRNAi human phenotypes for DPYS:
genes like me logo Genes that share phenotypes with DPYS: view

No data available for Animal Models , miRNA , Transcription Factor Targeting 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 4
nucleus 2
cytoskeleton 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for DPYS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with DPYS: view

Pathways 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:0006210 thymine catabolic process ISS --
GO:0006212 uracil catabolic process IMP 18075467
GO:0008152 metabolic process --
genes like me logo Genes that share ontologies with DPYS: view

Compounds for DPYS Gene

(5) HMDB Compounds for DPYS Gene

Compound Synonyms Cas Number PubMed IDs
Dihydrothymine
  • 5,6-Dihydro-5-methyluracil
696-04-8
Dihydrouracil
  • 5,6-Dihydro-2,4(1H,3H)-pyrimidinedione
504-07-4
Ureidoisobutyric acid
  • 3-Ureidoisobutyrate
2905-86-4
Ureidopropionic acid
  • 3-Ureido-propionate
462-88-4
Water
  • Dihydrogen oxide
7732-18-5

(16) Novoseek inferred chemical compound relationships for DPYS Gene

Compound -log(P) Hits PubMed IDs
5-phenylhydantoin 94.3 2
5-benzylhydantoin 91.9 3
dihydrouracil 91.7 2
hydantoin 91.6 7
5,6-dihydrothymine 88.1 2
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 (36.6) and Kidney - Cortex (11.8).

Integrated Proteomics: protein expression 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 expressions with DPYS: view

Orthologs for DPYS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DPYS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DPYS 36
  • 99.49 (n)
  • 99.22 (a)
DPYS 37
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DPYS 36
  • 88.37 (n)
  • 90.31 (a)
DPYS 37
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DPYS 36
  • 89.45 (n)
  • 92.47 (a)
DPYS 37
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dpys 36
  • 86.04 (n)
  • 88.61 (a)
Dpys 16
Dpys 37
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DPYS 37
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DPYS 37
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dpys 36
  • 86.49 (n)
  • 90.15 (a)
chicken
(Gallus gallus)
Aves DPYS 36
  • 72.18 (n)
  • 76.21 (a)
DPYS 37
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DPYS 37
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dpys 36
  • 73.12 (n)
  • 79.23 (a)
zebrafish
(Danio rerio)
Actinopterygii dpys 36
  • 69.69 (n)
  • 75.4 (a)
dpys 37
  • 75 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003124 36
  • 59.01 (n)
  • 59.87 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6106 37
  • 22 (a)
ManyToMany
CRMP 36
  • 59.42 (n)
  • 59.07 (a)
CRMP 38
  • 55 (a)
worm
(Caenorhabditis elegans)
Secernentea dhp-1 37
  • 55 (a)
ManyToMany
dhp-2 36
  • 57.78 (n)
  • 58.68 (a)
unc-33 38
  • 35 (a)
dhp-2 38
  • 58 (a)
dhp-1 38
  • 54 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DAL1 37
  • 22 (a)
OneToMany
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.718 36
soybean
(Glycine max)
eudicotyledons Gma.3611 36
thale cress
(Arabidopsis thaliana)
eudicotyledons PYD2 36
  • 53.53 (n)
  • 48.34 (a)
corn
(Zea mays)
Liliopsida Zm.2131 36
rice
(Oryza sativa)
Liliopsida Os.33610 36
Os01g0807900 36
  • 55.18 (n)
  • 50 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.18843 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

Selected 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 MAF
rs1325 -- 104,382,594(+) CCTGA(A/G)TATCA intron-variant
rs1327 -- 104,382,611(+) CCTAG(A/G)GTGAC intron-variant
rs870789 -- 104,397,996(-) CCAAA(C/G)TGCAC intron-variant
rs1044403 -- 104,382,007(-) TAAAT(C/G)GGCAA intron-variant
rs1317357 -- 104,425,546(+) CACTT(C/G/T)GGGAG intron-variant

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

Relevant External Links for DPYS Gene

HapMap Linkage Disequilibrium report
DPYS
Human Gene Mutation Database (HGMD)
DPYS

Disorders for DPYS Gene

(1) OMIM Diseases for DPYS Gene (613326)

UniProtKB/Swiss-Prot

DPYS_HUMAN
  • Dihydropyrimidinase deficiency (DHPD) [MIM:222748]: A disorder characterized by dihydropyrimidinuria and associated with a variable clinical phenotype characterized by epileptic or convulsive attacks, dysmorphic features and severe developmental delay, and congenital microvillous atrophy. {ECO:0000269 PubMed:9718352}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for DPYS Gene

(5) Novoseek inferred disease relationships for DPYS Gene

Disease -log(P) Hits PubMed IDs
enzyme deficiency 62.3 1
developmental delay 36.2 2
tumors 2.95 1
atrophy 0 1
cancer 0 2

Relevant External Links for DPYS

Genetic Association Database (GAD)
DPYS
Human Genome Epidemiology (HuGE) Navigator
DPYS
genes like me logo Genes that share disorders with DPYS: view

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
  2. Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene. (PMID: 9718352) Hamajima N. … Wada Y. (Am. J. Hum. Genet. 1998) 3 4 23
  3. 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 49
  4. 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 49
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for DPYS Gene

Sources for DPYS Gene

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