| Entry |
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| Gene name |
UPB1, BUP1
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| Definition |
ureidopropionase, beta (EC:3.5.1.6)
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| Orthology |
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| Organism |
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| Pathway |
| Pyrimidine metabolism | | beta-Alanine metabolism | | Pantothenate and CoA biosynthesis | | Drug metabolism - other enzymes | | Metabolic pathways |
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| Module |
| Pyrimidine degradation, uracil => beta-alanine, thymine => 3-aminoisobutanoate |
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| Disease |
| Beta-ureidopropionase deficiency |
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| Class |
Metabolism; Nucleotide metabolism; Pyrimidine metabolism [PATH: hsa00240]
Metabolism; Metabolism of other amino acids; beta-Alanine metabolism [PATH: hsa00410]
Metabolism; Metabolism of cofactors and vitamins; Pantothenate and CoA biosynthesis [PATH: hsa00770]
Metabolism; Xenobiotics biodegradation and metabolism; Drug metabolism - other enzymes [PATH: hsa00983]
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| SSDB |
   |
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| Motif |
 |
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| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
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| Position |
22q11.2
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| AA seq |
384 aa  
MAGAEWKSLEECLEKHLPLPDLQEVKRVLYGKELRKLDLPREAFEAASREDFELQGYAFE
AAEEQLRRPRIVHVGLVQNRIPLPANAPVAEQVSALHRRIKAIVEVAAMCGVNIICFQEA
WTMPFAFCTREKLPWTEFAESAEDGPTTRFCQKLAKNHDMVVVSPILERDSEHGDVLWNT
AVVISNSGAVLGKTRKNHIPRVGDFNESTYYMEGNLGHPVFQTQFGRIAVNICYGRHHPL
NWLMYSINGAEIIFNPSATIGALSESLWPIEARNAAIANHCFTCAINRVGTEHFPNEFTS
GDGKKAHQDFGYFYGSSYVAAPDSSRTPGLSRSRDGLLVAKLDLNLCQQVNDVWNFKMTG
RYEMYARELAEAVKSNYSPTIVKE |
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| NT seq |
1155 nt  +upstreamnt +downstreamnt
atggcgggcgctgagtggaagtcgctggaggaatgcttggagaagcacctgccgctcccc
gacttgcaggaagtgaagcgcgttctctatggcaaggaactcaggaagcttgatctgccc
agggaagctttcgaagctgcctccagagaagactttgaactgcagggatatgcctttgaa
gcagcggaggagcagctgagacgaccccgcattgtgcacgtggggctggttcagaacaga
atccccctccccgcaaatgcccctgtggcagaacaggtctctgcccttcatagacgcata
aaggctatcgtagaggtggctgcaatgtgtggagtcaacatcatctgtttccaggaagca
tggactatgccctttgccttctgtacgagagagaagcttccttggacagaatttgctgag
tcagcagaggatgggcccaccaccagattctgtcagaagctggcgaagaaccatgacatg
gtggtggtgtctcccatcctggaacgagacagcgagcatggggatgttttgtggaataca
gccgtggtgatctccaattccggagcagtcctgggaaagaccaggaaaaaccacatcccc
agagtgggtgatttcaacgagtcaacttactacatggagggaaacctgggccaccccgtg
ttccagacgcagttcggaaggatcgcggtgaacatttgctacgggcggcaccaccccctc
aactggcttatgtacagcatcaacggggctgagatcatcttcaacccctcggccacgata
ggagcactcagcgagtccctgtggcccatcgaggccagaaacgcagccattgccaatcac
tgcttcacctgcgccatcaatcgagtgggcaccgagcacttcccgaacgagtttacctcg
ggagatggaaagaaagctcaccaggactttggctacttttatggctcgagctatgtggca
gcccctgacagcagccggactcctgggctgtcccgtagccgggatggactgctagttgct
aagctcgacctaaacctctgccagcaggtgaatgatgtctggaacttcaagatgacgggc
aggtatgagatgtacgcacgggagctcgccgaagctgtcaagtccaactacagccccacc
atcgtgaaagagtag |
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