UPB1
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| Ureidopropionase, beta | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | UPB1 ; BUP1 | ||||||||||||
| External IDs | OMIM: 606673 MGI: 2143535 HomoloGene: 9471 GeneCards: UPB1 Gene | ||||||||||||
| EC number | 3.5.1.6 | ||||||||||||
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| RNA expression pattern | |||||||||||||
| File:PBB GE UPB1 220507 s at tn.png | |||||||||||||
| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| 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 Mb |
Chr 10: 75.41 – 75.44 Mb |
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| PubMed search | [1] | [2] | |||||||||||
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
Click on genes, proteins and metabolites below to link to respective articles. [§ 1]
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<references />, or <references group="..." />References
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<references />, or <references group="..." />Further reading
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This article on a gene on human chromosome 22 is a stub. You can help Wikipedia by expanding it. |
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