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B1 增强模块

B1 UP


B1 UP


Beta-ureidopropionase is an enzyme that in humans is encoded by the UPB1 gene.[1][2]


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.[2]

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

[[File:


|{{{bSize}}}px|alt=Fluorouracil (5-FU) Activity edit]]
File:FluoropyrimidineActivity_WP1601.png
Fluorouracil (5-FU) Activity edit
^ The interactive pathway map can be edited at WikiPathways: "FluoropyrimidineActivity_WP1601".
References[edit]
^ 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.
^ a b "Entrez Gene: UPB1 ureidopropionase, beta".
Further reading[edit]
Thomas HR, Ezzeldin HH, Guarcello V et al. (2008). "Genetic regulation of beta-ureidopropionase and its possible implication in altered uracil catabolism". Pharmacogenet. Genomics 18 (1): 25–35. doi:10.1097/FPC.0b013e3282f2f134. PMID 18216719.
Thomas HR, Ezzeldin HH, Guarcello V et al. (2008). "Genetic regulation of dihydropyrimidinase and its possible implication in altered uracil catabolism". Pharmacogenet. Genomics 17 (11): 973–87. doi:10.1097/FPC.0b013e3282f01788. PMID 18075467.
van Kuilenburg AB, Meinsma R, Assman B et al. (2007). "Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency". Nucleosides Nucleotides Nucleic Acids 25 (9–11): 1093–8. doi:10.1080/15257770600956870. PMID 17065070.
Collins JE, Wright CL, Edwards CA et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMC 545604. PMID 15461802.
van Kuilenburg AB, Meinsma R, Beke E et al. (2006). "beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities". Hum. Mol. Genet. 13 (22): 2793–801. doi:10.1093/hmg/ddh303. PMID 15385443.
Ota T, Suzuki Y, Nishikawa T et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Strausberg RL, Feingold EA, Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Sakamoto T, Sakata SF, Matsuda K et al. (2002). "Expression and properties of human liver beta-ureidopropionase". J. Nutr. Sci. Vitaminol. 47 (2): 132–8. doi:10.3177/jnsv.47.132. PMID 11508704.
Naguib FN, el Kouni MH, Cha S (1985). "Enzymes of uracil catabolism in normal and neoplastic human tissues". Cancer Res. 45 (11 Pt 1): 5405–12. PMID 3931905.
This article on a gene on human chromosome 22 is a stub. You can help Wikipedia by expanding it.
v t e
Metabolism: amino acid metabolism nucleotide enzymes
Purine metabolism
Anabolism
R5P→IMP:
Ribose-phosphate diphosphokinase Amidophosphoribosyltransferase Phosphoribosylglycinamide formyltransferase AIR synthetase (FGAM cyclase) Phosphoribosylaminoimidazole carboxylase Phosphoribosylaminoimidazolesuccinocarboxamide synthase IMP synthase
IMP→AMP:
Adenylosuccinate synthase Adenylosuccinate lyase reverse AMP deaminase
IMP→GMP:
IMP dehydrogenase GMP synthase reverse GMP reductase
Nucleotide salvage
Hypoxanthine-guanine phosphoribosyltransferase Adenine phosphoribosyltransferase
Catabolism
Adenosine deaminase Purine nucleoside phosphorylase Guanine deaminase Xanthine oxidase Urate oxidase
Pyrimidine metabolism
Anabolism
CAD Carbamoyl phosphate synthase II Aspartate carbamoyltransferase Dihydroorotase
Dihydroorotate dehydrogenase Orotidine 5'-phosphate decarboxylase/Uridine monophosphate synthetase
CTP synthetase
Catabolism
Dihydropyrimidine dehydrogenase Dihydropyrimidinase/DPYS Beta-ureidopropionase/UPB1
Deoxyribonucleotides
Ribonucleotide reductase Nucleoside-diphosphate kinase DCMP deaminase Thymidylate synthase Dihydrofolate reductase
v t e
Index of inborn errors of metabolism

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