UPB1

Beta-ureidopropionase is an enzyme that in humans is encoded by the UPB1 gene.[5][6]

UPB1
Identifiers
AliasesUPB1, BUP1, beta-ureidopropionase 1
External IDsOMIM: 606673 MGI: 2143535 HomoloGene: 9471 GeneCards: UPB1
Gene location (Human)
Chr.Chromosome 22 (human)[1]
Band22q11.23Start24,494,107 bp[1]
End24,528,390 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

51733

103149

Ensembl

ENSG00000100024

ENSMUSG00000033427

UniProt

Q9UBR1

Q8VC97

RefSeq (mRNA)

NM_016327

NM_133995

RefSeq (protein)

NP_057411

NP_598756

Location (UCSC)Chr 22: 24.49 – 24.53 MbChr 10: 75.4 – 75.44 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

This gene encodes a protein that belongs to the CN hydrolase family. Beta-ureidopropionase catalyzes the last step in the pyrimidine degradation pathway. The pyrimidine bases uracil and thymine are degraded via the consecutive action of dihydropyrimidine dehydrogenase (DHPDH), dihydropyrimidinase (DHP) and beta-ureidopropionase (UP) to beta-alanine and beta-aminoisobutyric acid, respectively. UP deficiencies are associated with N-carbamyl-beta-amino aciduria and may lead to abnormalities in neurological activity.[6]

Interactive pathway map

Click on genes, proteins and metabolites below to link to respective articles.[§ 1]

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|{{{bSize}}}px|alt=Fluorouracil (5-FU) Activity edit]]
Fluorouracil (5-FU) Activity edit
  1. The interactive pathway map can be edited at WikiPathways: "FluoropyrimidineActivity_WP1601".

References
  1. GRCh38: Ensembl release 89: ENSG00000100024 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000033427 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Vreken P, van Kuilenburg AB, Hamajima N, Meinsma R, van Lenthe H, Gohlich-Ratmann G, Assmann BE, Wevers RA, van Gennip AH (Dec 1999). "cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding beta-ureidopropionase". Biochim Biophys Acta. 1447 (2–3): 251–7. doi:10.1016/s0167-4781(99)00182-7. PMID 10542323.
  6. "Entrez Gene: UPB1 ureidopropionase, beta".

Further reading


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