UPB1
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
Beta-ureidopropionase is an enzyme that in humans is encoded by the UPB1 gene.{{cite journal |vauthors=Vreken P, van Kuilenburg AB, Hamajima N, Meinsma R, van Lenthe H, Gohlich-Ratmann G, Assmann BE, Wevers RA, van Gennip AH | title = cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding beta-ureidopropionase | journal = Biochim Biophys Acta | volume = 1447 | issue = 2–3 | pages = 251–7 |date=Dec 1999 | pmid = 10542323 | doi = 10.1016/s0167-4781(99)00182-7}}{{cite web | title = Entrez Gene: UPB1 ureidopropionase, beta| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51733}}
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.
Interactive pathway map
{{FluoropyrimidineActivity WP1601|highlight=UPB1}}
References
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Further reading
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- {{cite journal | author=Thomas HR |title=Genetic regulation of beta-ureidopropionase and its possible implication in altered uracil catabolism |journal=Pharmacogenet. Genomics |volume=18 |issue= 1 |pages= 25–35 |year= 2008 |pmid= 18216719 |doi= 10.1097/FPC.0b013e3282f2f134 |name-list-style=vanc| author2=Ezzeldin HH | author3=Guarcello V | display-authors=3 | last4=Mattison | first4=Lori K. | last5=Fridley | first5=Brooke L. | last6=Diasio | first6=Robert B. |s2cid=10940058 }}
- {{cite journal | author=Thomas HR |title=Genetic regulation of dihydropyrimidinase and its possible implication in altered uracil catabolism |journal=Pharmacogenet. Genomics |volume=17 |issue= 11 |pages= 973–87 |year= 2008 |pmid= 18075467 |doi= 10.1097/FPC.0b013e3282f01788 |name-list-style=vanc| author2=Ezzeldin HH | author3=Guarcello V | display-authors=3 | last4=Mattison | first4=Lori K. | last5=Fridley | first5=Brooke L. | last6=Diasio | first6=Robert B. |s2cid=23490646 }}
- {{cite journal | author=van Kuilenburg AB |title=Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency |journal=Nucleosides Nucleotides Nucleic Acids |volume=25 |issue= 9–11 |pages= 1093–8 |year= 2007 |pmid= 17065070 |doi= 10.1080/15257770600956870 |name-list-style=vanc| author2=Meinsma R | author3=Assman B | display-authors=3 | last4=Hoffman | first4=G. | last5=Voit | first5=T. | last6=Ribes | first6=A. | last7=Lorente | first7=I. | last8=Busch | first8=R. | last9=Mayatepek | first9=E. |s2cid=34904943 }}
- {{cite journal | author=Collins JE |title=A genome annotation-driven approach to cloning the human ORFeome |journal=Genome Biol. |volume=5 |issue= 10 |pages= R84 |year= 2005 |pmid= 15461802 |doi= 10.1186/gb-2004-5-10-r84 | pmc=545604 |name-list-style=vanc| author2=Wright CL | author3=Edwards CA | display-authors=3 | last4=Davis | first4=Matthew P | last5=Grinham | first5=James A | last6=Cole | first6=Charlotte G | last7=Goward | first7=Melanie E | last8=Aguado | first8=Begoña | last9=Mallya | first9=Meera |doi-access=free }}
- {{cite journal | author=van Kuilenburg AB |title=beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities |journal=Hum. Mol. Genet. |volume=13 |issue= 22 |pages= 2793–801 |year= 2006 |pmid= 15385443 |doi= 10.1093/hmg/ddh303 |name-list-style=vanc| author2=Meinsma R | author3=Beke E | display-authors=3 | last4=Assmann | first4=B | last5=Ribes | first5=A | last6=Lorente | first6=I | last7=Busch | first7=R | last8=Mayatepek | first8=E | last9=Abeling | first9=NG | doi-access= }}
- {{cite journal | author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |name-list-style=vanc| author2=Suzuki Y | author3=Nishikawa T | display-authors=3 | last4=Otsuki | first4=Tetsuji | last5=Sugiyama | first5=Tomoyasu | last6=Irie | first6=Ryotaro | last7=Wakamatsu | first7=Ai | last8=Hayashi | first8=Koji | last9=Sato | first9=Hiroyuki | doi-access=free }}
- {{cite journal | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |name-list-style=vanc| author2=Feingold EA | author3=Grouse LH | display-authors=3 | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD |bibcode=2002PNAS...9916899M |doi-access=free }}
- {{cite journal | author=Sakamoto T |title=Expression and properties of human liver beta-ureidopropionase |journal=J. Nutr. Sci. Vitaminol. |volume=47 |issue= 2 |pages= 132–8 |year= 2002 |pmid= 11508704 |doi= 10.3177/jnsv.47.132|name-list-style=vanc| author2=Sakata SF | author3=Matsuda K | display-authors=3 | last4=Horikawa | first4=Y | last5=Tamaki | first5=N |doi-access=free}}
- {{cite journal |vauthors=Naguib FN, el Kouni MH, Cha S |title=Enzymes of uracil catabolism in normal and neoplastic human tissues |journal=Cancer Res. |volume=45 |issue= 11 Pt 1 |pages= 5405–12 |year= 1985 |pmid= 3931905 }}
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{{Nucleotide metabolism enzymes}}
{{gene-22-stub}}