BRENDA - Enzyme Database show
show all sequences of 3.5.1.6

Five cases of beta-ureidopropionase deficiency detected by GC/MS analysis of urine metabolome

Kuhara, T.; Ohse, M.; Inoue, Y.; Shinka, T.; J. Mass Spectrom. 44, 214-221 (2009)

Data extracted from this reference:

Cloned(Commentary)
Commentary
Organism
gene UPB1, genotyping
Homo sapiens
Engineering
Amino acid exchange
Commentary
Organism
additional information
screening for genetic deficiency in betaUPase, genotyping and phenotypes, overview
Homo sapiens
Organism
Organism
Primary Accession No. (UniProt)
Commentary
Textmining
Homo sapiens
-
gene UPB1
-
Cloned(Commentary) (protein specific)
Commentary
Organism
gene UPB1, genotyping
Homo sapiens
Engineering (protein specific)
Amino acid exchange
Commentary
Organism
additional information
screening for genetic deficiency in betaUPase, genotyping and phenotypes, overview
Homo sapiens
General Information
General Information
Commentary
Organism
additional information
screening for genetic deficiency in betaUPase, GC/MS analysis of urine metabolome. Patients 1, 2, 3 and 4 are asymptomatic and patients 5 and 6 have autism and West syndrome, respectively. In the disorders in the first and second steps of pyrimidine degradation, the clinical presentation and disease severity varies considerably, even among patients in the same family
Homo sapiens
General Information (protein specific)
General Information
Commentary
Organism
additional information
screening for genetic deficiency in betaUPase, GC/MS analysis of urine metabolome. Patients 1, 2, 3 and 4 are asymptomatic and patients 5 and 6 have autism and West syndrome, respectively. In the disorders in the first and second steps of pyrimidine degradation, the clinical presentation and disease severity varies considerably, even among patients in the same family
Homo sapiens
Other publictions for EC 3.5.1.6
No.
1st author
Pub Med
title
organims
journal
volume
pages
year
Activating Compound
Application
Cloned(Commentary)
Crystallization (Commentary)
Engineering
General Stability
Inhibitors
KM Value [mM]
Localization
Metals/Ions
Molecular Weight [Da]
Natural Substrates/ Products (Substrates)
Organic Solvent Stability
Organism
Oxidation Stability
Posttranslational Modification
Purification (Commentary)
Reaction
Renatured (Commentary)
Source Tissue
Specific Activity [micromol/min/mg]
Storage Stability
Substrates and Products (Substrate)
Subunits
Temperature Optimum [C]
Temperature Range [C]
Temperature Stability [C]
Turnover Number [1/s]
pH Optimum
pH Range
pH Stability
Cofactor
Ki Value [mM]
pI Value
IC50 Value
Activating Compound (protein specific)
Application (protein specific)
Cloned(Commentary) (protein specific)
Cofactor (protein specific)
Crystallization (Commentary) (protein specific)
Engineering (protein specific)
General Stability (protein specific)
IC50 Value (protein specific)
Inhibitors (protein specific)
Ki Value [mM] (protein specific)
KM Value [mM] (protein specific)
Localization (protein specific)
Metals/Ions (protein specific)
Molecular Weight [Da] (protein specific)
Natural Substrates/ Products (Substrates) (protein specific)
Organic Solvent Stability (protein specific)
Oxidation Stability (protein specific)
Posttranslational Modification (protein specific)
Purification (Commentary) (protein specific)
Renatured (Commentary) (protein specific)
Source Tissue (protein specific)
Specific Activity [micromol/min/mg] (protein specific)
Storage Stability (protein specific)
Substrates and Products (Substrate) (protein specific)
Subunits (protein specific)
Temperature Optimum [C] (protein specific)
Temperature Range [C] (protein specific)
Temperature Stability [C] (protein specific)
Turnover Number [1/s] (protein specific)
pH Optimum (protein specific)
pH Range (protein specific)
pH Stability (protein specific)
pI Value (protein specific)
Expression
General Information
General Information (protein specific)
Expression (protein specific)
KCat/KM [mM/s]
KCat/KM [mM/s] (protein specific)
733675
Lam
NMR-based urinalysis for rapid ...
Homo sapiens
Clin. Chim. Acta
440
201-204
2015
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734810
Meijer
Publishers note. Identificatio ...
Homo sapiens
Nucleosides Nucleotides Nucleic Acids
33
639-645
2014
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734855
Shen
Expression of a gene encoding ...
Solanum lycopersicum, Solanum lycopersicum CL5915, Solanum lycopersicum L4783
Physiol. Plant.
150
425-435
2014
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733382
Van Kuilenburg
beta-Ureidopropionase deficien ...
Homo sapiens
Biochim. Biophys. Acta
1822
1096-1108
2012
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1
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6
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2
1
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3
3
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734844
Fidlerova
Contribution of the beta-ureid ...
Homo sapiens
Pharmacol. Rep.
64
1234-1242
2012
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1
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1
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2
2
-
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-
720104
Martinez-Gomez
N-Carbamoyl-beta-alanine amido ...
Agrobacterium tumefaciens, Agrobacterium tumefaciens C58 / ATCC 33970
J. Chromatogr. B
879
3277-3282
2011
-
-
1
-
-
-
-
21
-
1
-
-
-
20
-
-
1
-
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-
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26
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1
21
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-
-
21
21
719454
Janowitz
The 3-ureidopropionase of Caen ...
Caenorhabditis elegans
FEBS J.
277
4100-4109
2010
-
-
1
-
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-
-
1
-
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2
-
-
2
-
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1
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695782
Martinez-Gomez
Potential application of N-car ...
Agrobacterium tumefaciens, Agrobacterium tumefaciens C58 / ATCC 33970
Appl. Environ. Microbiol.
75
514-520
2009
-
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1
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3
-
5
7
-
3
2
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21
-
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1
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1
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1
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7
1
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-
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-
-
700487
Zrenner
A functional analysis of the p ...
Arabidopsis thaliana
New Phytol.
183
117-132
2009
-
-
1
-
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-
-
1
-
-
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1
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1
1
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712679
Kuhara
Five cases of beta-ureidopropi ...
Homo sapiens
J. Mass Spectrom.
44
214-221
2009
-
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1
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1
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2
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-
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1
1
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685395
Schnackerz
Amidohydrolases of the reducti ...
Arabidopsis thaliana, Bos taurus, Caenorhabditis elegans, Dictyostelium discoideum, Drosophila melanogaster, Euglena gracilis, Homo sapiens, Lachancea kluyveri, Pseudomonas putida, Rattus norvegicus, Zea mays
Biochim. Biophys. Acta
1784
431-444
2008
-
-
-
-
-
-
5
6
-
4
7
-
-
13
-
-
4
-
-
2
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22
8
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4
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2
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22
8
-
-
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-
-
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-
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-
-
688403
Lundgren
The crystal structure of beta- ...
Drosophila melanogaster
J. Mol. Biol.
377
1544-1559
2008
-
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-
1
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-
-
-
-
-
-
-
2
-
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1
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689360
Thomas
Genetic regulation of beta-ure ...
Homo sapiens
Pharmacogenet. Genomics
18
25-35
2008
-
-
1
-
1
-
-
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-
-
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-
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2
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-
684188
Lundgren
Crystallization and preliminar ...
Drosophila melanogaster
Acta Crystallogr. Sect. F
63
874-877
2007
-
-
-
1
-
-
-
-
-
-
-
-
-
3
-
-
1
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687655
Lundgren
Crystal structures of yeast be ...
Lachancea kluyveri
J. Biol. Chem.
282
36037-36047
2007
-
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1
6
-
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1
-
-
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3
-
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5
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668743
Rawls
Analysis of pyrimidine catabol ...
Drosophila melanogaster
Genetics
172
1665-1674
2006
-
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689264
van Kuilenburg
Activity of pyrimidine degrada ...
Homo sapiens
Nucleosides Nucleotides Nucleic Acids
25
1211-1214
2006
-
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1
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-
-
-
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-
-
-
-
654071
Dobritzsch
Crystallization and preliminar ...
Lachancea kluyveri
Acta Crystallogr. Sect. D
59
1267-1269
2003
-
-
1
1
-
-
-
-
-
-
-
1
-
5
-
-
1
1
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-
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-
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656188
Lundgren
Yeast beta-alanine synthase sh ...
Lachancea kluyveri
J. Biol. Chem.
278
51851-51862
2003
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-
1
-
-
-
-
-
1
-
2
-
5
-
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-
-
-
-
-
-
-
-
657030
Walsh
Characterization of plant beta ...
Arabidopsis sp., Zea mays
Plant Physiol.
125
1001-1011
2001
-
-
1
-
-
1
18
2
1
1
6
4
-
6
-
-
2
1
-
1
1
2
8
3
1
-
-
-
1
1
-
-
-
2
9
-
-
1
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-
1
9
18
-
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1
1
6
4
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2
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1
1
2
8
3
1
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1
1
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2
-
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677606
West
Pyrimidine base catabolism in ...
Pseudomonas putida
Antonie van Leeuwenhoek
80
163-167
2001
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1
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2
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656700
Traut
beta-Alanine synthase, an enzy ...
Rattus norvegicus
Methods Enzymol.
324
399-410
2000
-
-
-
-
-
1
5
2
-
1
1
2
-
1
-
-
1
-
-
1
1
1
5
3
-
-
1
1
-
-
-
-
4
-
-
-
-
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-
-
1
-
5
4
2
-
1
1
2
-
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1
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1
1
1
5
3
-
-
1
1
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-
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172068
Van Kuilenburg
A radiochemical assay for beta ...
Homo sapiens, Rattus rattus
Anal. Biochem.
272
250-253
1999
-
1
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-
-
-
1
2
-
1
2
-
3
-
-
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1
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1
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1
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172069
Vreken
cDNA cloning, genomic structur ...
Homo sapiens, Rattus rattus
Biochim. Biophys. Acta
1447
251-257
1999
-
1
1
-
-
-
-
-
3
-
2
2
-
5
-
-
-
-
-
12
-
-
2
-
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1
1
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2
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12
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2
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172067
West
-
Reductive catabolism of uracil ...
Burkholderia cepacia
Arch. Microbiol.
168
237-239
1997
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-
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1
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-
1
-
1
-
-
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9
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172065
Ogawa
beta-Ureidopropionase with N-c ...
Clostridium uracilicum, Comamonas sp., Euglena gracilis, Mus musculus, Pseudomonas putida, Rattus rattus
Eur. J. Biochem.
223
625-630
1994
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23
10
2
5
4
6
-
9
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1
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2
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23
2
2
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1
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1
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1
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23
-
10
2
5
4
6
-
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1
-
2
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-
23
2
2
-
1
-
1
-
1
-
-
-
-
-
-
-
172066
Ogawa
-
Evaluation of pyrimidine- and ...
Agrobacterium sp., Arthrobacter sp., Bacillus sp. (in: Bacteria), Blastobacter sp., Comamonas sp., Comamonas sp. E222c, Pseudomonas putida
FEMS Microbiol. Lett.
122
55-60
1994
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8
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8
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2
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19
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8
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2
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19
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172064
Waldmann
Assay for beta-ureidopropionas ...
Bos taurus, Clostridium uracilicum, Euglena gracilis, Mus musculus, Rattus rattus
Anal. Biochem.
188
233-236
1990
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2
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5
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5
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4
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3
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10
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2
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5
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4
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3
-
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10
-
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-
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172056
Tamaki
Purification and properties of ...
Rattus rattus
Eur. J. Biochem.
169
21-26
1987
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-
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1
-
1
1
1
3
1
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2
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1
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13
1
1
5
1
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1
1
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-
1
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1
1
1
3
1
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1
-
13
1
1
5
1
-
-
-
-
1
1
-
-
-
-
-
-
-
-
172057
Matthews
Regulation of N-carbamoyl-beta ...
Clostridium uracilicum, Clostridium uracilicum M5-2, Euglena gracilis, Homo sapiens, Mus musculus, Rattus rattus
J. Biol. Chem.
262
7232-7237
1987
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-
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4
5
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1
6
-
11
-
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9
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14
1
1
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3
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4
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5
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1
6
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9
-
-
14
1
1
-
-
-
3
-
-
-
-
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-
-
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-
172058
Traut
Pyrimidine catabolism: individ ...
Escherichia coli, Euglena gracilis, Mus musculus, Rattus rattus
Biochemistry
23
2533-2539
1984
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-
-
-
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1
1
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2
4
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5
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3
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1
8
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1
1
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2
4
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3
-
1
8
-
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172059
Hardiman
Capacity of rat liver for pyri ...
Rattus rattus, Rattus rattus Cd
Arch. Biochem. Biophys.
224
326-331
1983
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-
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2
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3
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1
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4
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2
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1
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4
-
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-
-
-
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-
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-
172060
Kaspari
-
Repression of beta-ureidopropi ...
Clostridium uracilicum, Clostridium uracilicum M5-2, Euglena gracilis, Rattus rattus, Rhodobacter capsulatus
J. Gen. Microbiol.
122
95-100
1981
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-
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1
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5
-
8
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1
3
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10
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1
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1
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5
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1
3
-
10
-
-
-
-
-
1
-
-
-
-
-
-
-
-
-
172061
Wasternack
Pyrimidine-degrading enzymes p ...
Clostridium uracilicum, Clostridium uracilicum M5-2, Euglena gracilis, Mus musculus, Rattus rattus
Biochim. Biophys. Acta
570
341-351
1979
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-
-
-
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7
4
-
1
1
5
-
10
-
-
1
-
-
4
1
-
12
-
1
-
-
-
1
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7
-
4
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1
1
5
-
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1
-
4
1
-
12
-
1
-
-
-
1
-
-
-
-
-
-
-
-
-
172062
Campbell
Reductive degradation of pyrim ...
Canis lupus familiaris, Clostridium uracilicum, Clostridium uracilicum M5-2, Oryctolagus cuniculus, Pigeon, Rattus rattus
J. Biol. Chem.
235
2375-2379
1960
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-
-
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-
1
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6
-
9
-
-
1
-
-
4
-
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12
-
1
1
1
-
2
1
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-
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-
-
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1
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6
-
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1
-
4
-
-
12
-
1
1
1
-
2
1
-
-
-
-
-
-
-
-
172063
Caravaca
Enzymatic decarbamylation of c ...
Canis lupus familiaris, Oryctolagus cuniculus, Pigeon, Rattus rattus
J. Biol. Chem.
231
357-365
1958
-
-
-
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-
2
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4
-
4
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4
-
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4
4
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12
-
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-
-
2
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-
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-
-
-
-
-
-
-
-
-
2
-
-
-
4
-
-
-
4
-
4
4
-
12
-
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-
-
2
-
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-
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-