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    DPYS dihydropyrimidinase [ Homo sapiens (human) ]

    Gene ID: 1807, updated on 17-Sep-2024

    Summary

    Official Symbol
    DPYSprovided by HGNC
    Official Full Name
    dihydropyrimidinaseprovided by HGNC
    Primary source
    HGNC:HGNC:3013
    See related
    Ensembl:ENSG00000147647 MIM:613326; AllianceGenome:HGNC:3013
    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
    NEW
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    Genomic context

    See DPYS in Genome Data Viewer
    Location:
    8q22.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (104379431..104467055, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (105506922..105594550, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (105391659..105479283, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986899 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27794 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:105354631-105355179 Neighboring gene NANOG hESC enhancer GRCh37_chr8:105362981-105363482 Neighboring gene dendrocyte expressed seven transmembrane protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27795 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27796 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:105439574-105439765 Neighboring gene uncharacterized LOC105375692 Neighboring gene uncharacterized LOC105375691 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:105481037-105482236 Neighboring gene MPRA-validated peak7134 silencer 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 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dihydropyrimidinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables dihydropyrimidinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables dihydropyrimidinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables identical protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphoprotein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables zinc ion binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in CMP catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in UMP catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dCMP catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dUMP catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pyrimidine nucleobase catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in pyrimidine nucleobase catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in thymine catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in uracil catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in uracil catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 

    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_047277371.1
    XP_047277372.1
    XP_047277374.1
    XP_047277375.1
    XP_054215878.1
    XP_054215879.1
    XP_054215880.1
    XP_054215881.1
    XP_054215882.1
    XP_054215883.1
    XP_054215884.1
    XP_054215885.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      104379431..104467055 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421418.1XP_047277374.1  dihydropyrimidinase isoform X5

    2. XM_006716518.4XP_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 ...
    3. XM_005250818.4XP_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 ...
    4. XM_047421415.1XP_047277371.1  dihydropyrimidinase isoform X1

    5. XM_011516903.4XP_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
    6. XM_047421416.1XP_047277372.1  dihydropyrimidinase isoform X4

    7. XM_047421419.1XP_047277375.1  dihydropyrimidinase isoform X7

    8. XM_017013167.3XP_016868656.1  dihydropyrimidinase isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      105506922..105594550 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359908.1XP_054215883.1  dihydropyrimidinase isoform X5

    2. XM_054359906.1XP_054215881.1  dihydropyrimidinase isoform X3

    3. XM_054359903.1XP_054215878.1  dihydropyrimidinase isoform X1

    4. XM_054359904.1XP_054215879.1  dihydropyrimidinase isoform X1

    5. XM_054359905.1XP_054215880.1  dihydropyrimidinase isoform X2

    6. XM_054359907.1XP_054215882.1  dihydropyrimidinase isoform X4

    7. XM_054359910.1XP_054215885.1  dihydropyrimidinase isoform X7

    8. XM_054359909.1XP_054215884.1  dihydropyrimidinase isoform X6