DPYS

Protein identityUniProt · HPA

UniProt accession

Q14117

Gene

DPYS

Ensembl

ENSG00000147647

Chromosome

8

Canonical length

519 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Quaternary structure

Homotetramer

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

519 residues, UniProt reviewed canonical sequence.

>Q14117|DPYS
     1  MAAPSRLLIR GGRVVNDDFS EVADVLVEDG VVRALGHDLL PPGGAPAGLR VLDAAGKLVL
    61  PGGIDTHTHM QFPFMGSRSI DDFHQGTKAA LSGGTTMIID FAIPQKGGSL IEAFETWRSW
   121  ADPKVCCDYS LHVAVTWWSD QVKEEMKILV QDKGVNSFKM FMAYKDLYMV TDLELYEAFS
   181  RCKEIGAIAQ VHAENGDLIA EGAKKMLALG ITGPEGHELC RPEAVEAEAT LRAITIASAV
   241  NCPLYIVHVM SKSAAKVIAD ARRDGKVVYG EPIAASLGTD GTHYWNKEWH HAAHHVMGPP
   301  LRPDPSTPDF LMNLLANDDL TTTGTDNCTF NTCQKALGKD DFTKIPNGVN GVEDRMSVIW
   361  EKGVHSGKMD ENRFVAVTST NAAKIFNLYP RKGRIAVGSD ADIVIWDPKG TRTISAKTHH
   421  QAVNFNIFEG MVCHGVPLVT ISRGKVVYEA GVFSVTAGDG KFIPRKPFAE YIYKRIKQRD
   481  RTCTPTPVER APYKGEVATL KSRVTKEDAT AGTRKQAHP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DPYS can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.22

Highest tissue expression

447 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DPYS.

Disease | AllUniProt

Conditions DPYS is implicated in, by any mechanism.

• Dihydropyrimidinase deficiency (DPYSD) MIM:222748

Disease | GeneticClinVar

31 pathogenic / likely-pathogenic of 236 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Dihydropyrimidinase deficiency
• DPYS-related disorder
• Inborn genetic diseases
• Hepatocellular carcinoma

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.17

gnomAD pLI

0

gnomAD missense Z

0.33

DepMap mean gene effect

0.04

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• CMP catabolic process
• dCMP catabolic process
• dUMP catabolic process
• pyrimidine nucleobase catabolic process
• thymine catabolic process
• UMP catabolic process
• uracil catabolic process

Molecular functions

• dihydropyrimidinase activity
• identical protein binding
• phosphoprotein binding
• zinc ion binding

Cellular components

• cytosol
• extracellular exosome

Protein domainsUniProt · Pfam · InterPro

• Amidohydrolase-related
• Metal-dependent hydrolase, composite domain superfamily
• Hydantoinase/dihydropyrimidinase
• Metal-dependent hydrolase
• Metallo-dependent Hydrolases Superfamily
• Amidohydrolase family

KeywordsUniProt

• Hydrolase
• Metal-binding
• Phosphoprotein
• Zinc