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DPYS dihydropyrimidinase [ Homo sapiens (human) ]

Gene ID: 1807, updated on 1-Jun-2020

Summary

Official Symbol
DPYSprovided by HGNC
Official Full Name
dihydropyrimidinaseprovided by HGNC
Primary source
HGNC:HGNC:3013
See related
Ensembl:ENSG00000147647 MIM:613326
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DHP; DHPase
Summary
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]
Expression
Biased expression in liver (RPKM 34.3) and kidney (RPKM 29.7) See more
Orthologs

Genomic context

See DPYS in Genome Data Viewer
Location:
8q22.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (104379429..104467074, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (105391652..105479281, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986899 Neighboring gene dendrocyte expressed seven transmembrane protein Neighboring gene uncharacterized LOC105375692 Neighboring gene uncharacterized LOC105375691 Neighboring gene microRNA 548a-3 Neighboring gene LDL receptor related protein 12 Neighboring gene NADH:ubiquinone oxidoreductase subunit A5 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
amino acid binding IEA
Inferred from Electronic Annotation
more info
 
dihydropyrimidinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dihydropyrimidinase activity IDA
Inferred from Direct Assay
more info
PubMed 
dihydropyrimidinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
identical protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
phosphoprotein binding IEA
Inferred from Electronic Annotation
more info
 
thymine binding IEA
Inferred from Electronic Annotation
more info
 
uracil binding IEA
Inferred from Electronic Annotation
more info
 
zinc ion binding NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
beta-alanine metabolic process IEA
Inferred from Electronic Annotation
more info
 
pyrimidine nucleobase catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
pyrimidine nucleobase catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
pyrimidine nucleoside catabolic process TAS
Traceable Author Statement
more info
 
thymine catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
uracil catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
uracil catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
protein-containing complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
dihydropyrimidinase
Names
dihydropyrimidine amidohydrolase
hydantoinase
NP_001376.1
XP_005250875.1
XP_006716581.1
XP_011515205.1
XP_016868656.1
XP_024302855.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008840.2 RefSeqGene

    Range
    4995..92619
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001385.3NP_001376.1  dihydropyrimidinase

    See identical proteins and their annotated locations for NP_001376.1

    Status: REVIEWED

    Source sequence(s)
    AP002847, BC034395, D78011
    Consensus CDS
    CCDS6302.1
    UniProtKB/Swiss-Prot
    Q14117
    Related
    ENSP00000276651.2, ENST00000351513.7
    Conserved Domains (1) summary
    cd01314
    Location:7460
    D-HYD; D-hydantoinases (D-HYD) also called dihydropyrimidases (DHPase) and related proteins; DHPases are a family of enzymes that catalyze the reversible hydrolytic ring opening of the amide bond in five- or six-membered cyclic diamides, like dihydropyrimidine ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    104379429..104467074 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006716518.3XP_006716581.1  dihydropyrimidinase isoform X3

    Conserved Domains (1) summary
    cd01314
    Location:7443
    D-HYD; D-hydantoinases (D-HYD) also called dihydropyrimidases (DHPase) and related proteins; DHPases are a family of enzymes that catalyze the reversible hydrolytic ring opening of the amide bond in five- or six-membered cyclic diamides, like dihydropyrimidine ...
  2. XM_005250818.3XP_005250875.1  dihydropyrimidinase isoform X1

    Conserved Domains (1) summary
    cd01314
    Location:7496
    D-HYD; D-hydantoinases (D-HYD) also called dihydropyrimidases (DHPase) and related proteins; DHPases are a family of enzymes that catalyze the reversible hydrolytic ring opening of the amide bond in five- or six-membered cyclic diamides, like dihydropyrimidine ...
  3. XM_024447087.1XP_024302855.1  dihydropyrimidinase isoform X1

    Conserved Domains (1) summary
    cd01314
    Location:7496
    D-HYD; D-hydantoinases (D-HYD) also called dihydropyrimidases (DHPase) and related proteins; DHPases are a family of enzymes that catalyze the reversible hydrolytic ring opening of the amide bond in five- or six-membered cyclic diamides, like dihydropyrimidine ...
  4. XM_011516903.3XP_011515205.1  dihydropyrimidinase isoform X2

    Conserved Domains (2) summary
    cd01314
    Location:7496
    D-HYD; D-hydantoinases (D-HYD) also called dihydropyrimidases (DHPase) and related proteins; DHPases are a family of enzymes that catalyze the reversible hydrolytic ring opening of the amide bond in five- or six-membered cyclic diamides, like dihydropyrimidine ...
    pfam07969
    Location:50408
    Amidohydro_3; Amidohydrolase family
  5. XM_017013167.2XP_016868656.1  dihydropyrimidinase isoform X4

RNA

  1. XR_001745490.2 RNA Sequence

  2. XR_001745489.1 RNA Sequence

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