Human Gene DPYS (ENST00000351513.7) from GENCODE V44
Description: Homo sapiens dihydropyrimidinase (DPYS), mRNA. (from RefSeq NM_001385) RefSeq Summary (NM_001385): 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]. Gencode Transcript: ENST00000351513.7 Gencode Gene: ENSG00000147647.13 Transcript (Including UTRs) Position: hg38 chr8:104,379,431-104,467,055 Size: 87,625 Total Exon Count: 10 Strand: - Coding Region Position: hg38 chr8:104,381,198-104,466,920 Size: 85,723 Coding Exon Count: 9
ID:DPYS_HUMAN DESCRIPTION: RecName: Full=Dihydropyrimidinase; Short=DHP; Short=DHPase; EC=3.5.2.2; AltName: Full=Dihydropyrimidine amidohydrolase; AltName: Full=Hydantoinase; 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. CATALYTIC ACTIVITY: 5,6-dihydrouracil + H(2)O = 3- ureidopropanoate. COFACTOR: Binds 2 zinc ions per subunit. SUBUNIT: Homotetramer (Probable). TISSUE SPECIFICITY: Liver and kidney. PTM: Carbamylation allows a single lysine to coordinate two zinc ions (By similarity). DISEASE: Defects in DPYS are the cause of dihydropyrimidinase deficiency (DHPD) [MIM:222748]. DHPD is an autosomal recessive disorder characterized by dihydropyrimidinuria and associated with a variable clinical phenotype: epileptic or convulsive attacks, dysmorphic features and severe developmental delay, and congenital microvillous atrophy. SIMILARITY: Belongs to the DHOase family. Hydantoinase/dihydropyrimidinase subfamily. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DPYS";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q14117
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006208 pyrimidine nucleobase catabolic process GO:0006210 thymine catabolic process GO:0006212 uracil catabolic process GO:0019482 beta-alanine metabolic process GO:0019860 uracil metabolic process GO:0046135 pyrimidine nucleoside catabolic process GO:0051260 protein homooligomerization GO:0051289 protein homotetramerization