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DPYS Gene(Protein Coding)

Dihydropyrimidinase

GCID:
GC08M104397
GIFtS:
62
Genes Participants
UDN Logo

Aliases for DPYS Gene

Aliases for DPYS Gene

  • Dihydropyrimidinase 2 3 3 5
  • Dihydropyrimidine Amidohydrolase 3 4
  • Hydantoinase 3 4
  • EC 3.5.2.2 4 61
  • 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 Beta-alanine metabolism (TR) and Porphyrin and chlorophyll metabolism. GO annotations related to this gene include hydrolase activity and amino acid binding. An important paralog of this gene is DPYSL2.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DPYS Gene

Genomics for DPYS Gene

Products:

  1. Regulatory Element

Regulatory Elements for DPYS Gene

Enhancers for DPYS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G104352 0.9 ENCODE 9.4 +114.4 114441 0.0 HDGF CBX3 ARNT NFRKB CHAMP1 GATA2 ETV6 MIER1 ZBTB2 NCOA1 DPYS DCSTAMP GC08M104420
GH08G104437 0.6 FANTOM5 10.3 +29.5 29455 0.3 CEBPB CEBPG ZBTB40 SPI1 DCSTAMP DPYS LOC105375692 LOC105375691
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DPYS on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the DPYS gene promoter:

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 Structure • Gene Density

RefSeq DNA sequence for DPYS Gene

Proteins for DPYS Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for DPYS Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for DPYS Gene

Q14117:
  • CDYSLHVA
  • AVGSDADIV
  • GGTTMIIDF
  • LPGGIDTHTH
  • FVAVTST
  • GKDDFTKIPNGVNGVEDRMS
  • DIVIWDP

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:

Domains & Families for DPYS Gene

Protein Domains for DPYS Gene

InterPro:
Blocks:
ProtoNet:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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
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

CRISPR Products

Inhibitory RNA Products

Flow Cytometry 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DPYS gene
Compartment Confidence
extracellular 5
cytosol 5
nucleus 2
cytoskeleton 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for DPYS Gene

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot 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:0006208 pyrimidine nucleobase catabolic process IDA 9718352
GO:0006210 thymine catabolic process ISS,IEA --
GO:0006212 uracil catabolic process IMP 18075467
GO:0019482 beta-alanine metabolic process IEA --
GO:0019860 uracil metabolic process IEA --
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

Products:

  1. Drug

(8) Drugs for DPYS Gene - From: PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Atenolol Approved Pharma Antagonist 104
Water Approved Pharma 0

(15) 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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for DPYS Gene

(5) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(52) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DPYS Gene

Dihydropyrimidinase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DPYS Gene

mRNA expression in normal human tissues for DPYS Gene
mRNA expression by BioGPS for DPYS GenemRNA expression by GTEx 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



Protein tissue co-expression partners for DPYS Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DPYS Gene:

DPYS

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.

Evidence on tissue expression from TISSUES for DPYS Gene

  • Liver(4.7)
  • Kidney(4.5)
  • Intestine(4.2)
  • Stomach(4)
  • Nervous system(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DPYS Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • face
  • head
  • skull
Abdomen:
  • intestine
  • large intestine
Pelvis:
  • anus
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with DPYS: view

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
chimpanzee
(Pan troglodytes)
 Mammalia DPYS 34 35
  • 99.49 (n)
dog
(Canis familiaris)
 Mammalia DPYS 34 35
  • 89.45 (n)
cow
(Bos Taurus)
 Mammalia DPYS 34 35
  • 88.37 (n)
oppossum
(Monodelphis domestica)
 Mammalia DPYS 35
  • 88 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Dpys 34
  • 86.49 (n)
mouse
(Mus musculus)
 Mammalia Dpys 34 16 35
  • 86.04 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia DPYS 35
  • 86 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves DPYS 34 35
  • 72.18 (n)
lizard
(Anolis carolinensis)
 Reptilia DPYS 35
  • 82 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia dpys 34
  • 73.12 (n)
zebrafish
(Danio rerio)
 Actinopterygii dpys 34 35
  • 69.69 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CRMP 36 34
  • 59.42 (n)
CG6106 35
  • 22 (a)
 ManyToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP003124 34
  • 59.01 (n)
worm
(Caenorhabditis elegans)
 Secernentea dhp-2 36 34
  • 57.78 (n)
dhp-1 36 35
  • 54 (a)
unc-33 36
  • 35 (a)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes DAL1 35
  • 22 (a)
 OneToMany
thale cress
(Arabidopsis thaliana)
 eudicotyledons PYD2 34
  • 53.53 (n)
soybean
(Glycine max)
 eudicotyledons Gma.3611 34
Alicante grape
(Vitis vinifera)
 eudicotyledons Vvi.718 34
rice
(Oryza sativa)
 Liliopsida Os01g0807900 34
  • 55.18 (n)
Os.33610 34
wheat
(Triticum aestivum)
 Liliopsida Ta.18843 34
corn
(Zea mays)
 Liliopsida Zm.2131 34
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 63 (a)
 OneToOne
Species where no ortholog for DPYS was found in the sources mined by GeneCards:
  • 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
rs121964923 Pathogenic, Dihydropyrimidinase deficiency (DPYSD) [MIM:222748] 104,428,071(-) CTGCC(A/G)GAAAG nc-transcript-variant, upstream-variant-2KB, reference, missense
rs121964924 Pathogenic, Dihydropyrimidinase deficiency (DPYSD) [MIM:222748] 104,427,994(-) TAATA(C/T)GGGAA nc-transcript-variant, upstream-variant-2KB, reference, missense
rs267606773 Pathogenic, Dihydropyrimidinase deficiency (DPYSD) [MIM:222748] 104,392,924(-) GCCAC(A/G)GGGTG nc-transcript-variant, reference, missense
VAR_002267 Dihydropyrimidinase deficiency (DPYSD) [MIM:222748]
VAR_002271 Dihydropyrimidinase deficiency (DPYSD) [MIM:222748]

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

Variant ID Type Subtype PubMed ID
nsv1032775 CNV gain 25217958
nsv1075159 CNV deletion 25765185
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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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-alanine synthase deficiency
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 22 64
  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 22 46 64
  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 22 46 64
  4. 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 22 64
  5. Analysis of copy number variation in 8,842 Korean individuals reveals 39 genes associated with hepatic biomarkers AST and ALT. (PMID: 20797317) Kim H.Y. … Kim H. (BMB Rep 2010) 3 46 64

Products for DPYS Gene

  • Addgene plasmids for DPYS

Sources for DPYS Gene

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