BRENDA - Enzyme Database
show all sequences of 3.5.2.17

Deficiency of 5-hydroxyisourate hydrolase causes hepatomegaly and hepatocellular carcinoma in mice

Stevenson, W.S.; Hyland, C.D.; Zhang, J.G.; Morgan, P.O.; Willson, T.A.; Gill, A.; Hilton, A.A.; Viney, E.M.; Bahlo, M.; Masters, S.L.; Hennebry, S.; Richardson, S.J.; Nicola, N.A.; Metcalf, D.; Hilton, D.J.; Roberts, A.W.; Alexander, W.S.; Proc. Natl. Acad. Sci. USA 107, 16625-16630 (2010)

Data extracted from this reference:

Application
Application
Commentary
Organism
medicine
point mutation Y98Cin the gene encoding mouse HIU hydrolase, Urah, results in undetectable protein expression. Mice homozygous for this mutation develop elevated platelet counts secondary to excess thrombopoietin production and hepatomegaly. The majority of homozygous mutant mice also develop hepatocellular carcinoma, and tumor development is accelerated by exposure to radiation
Mus musculus
Engineering
Protein Variants
Commentary
Organism
Y98C
point mutation in the gene encoding mouse HIU hydrolase, Urah, that perturbes uric acid metabolism within the liver. The substitution of cysteine for tyrosine in a conserved helical region results in undetectable protein expression. Mice homozygous for this mutation develop elevated platelet counts secondary to excess thrombopoietin production and hepatomegaly. The majority of homozygous mutant mice also develop hepatocellular carcinoma, and tumor development is accelerated by exposure to radiation
Mus musculus
Organism
Organism
UniProt
Commentary
Textmining
Mus musculus
-
-
-
Synonyms
Synonyms
Commentary
Organism
Urah
-
Mus musculus
Application (protein specific)
Application
Commentary
Organism
medicine
point mutation Y98Cin the gene encoding mouse HIU hydrolase, Urah, results in undetectable protein expression. Mice homozygous for this mutation develop elevated platelet counts secondary to excess thrombopoietin production and hepatomegaly. The majority of homozygous mutant mice also develop hepatocellular carcinoma, and tumor development is accelerated by exposure to radiation
Mus musculus
Engineering (protein specific)
Protein Variants
Commentary
Organism
Y98C
point mutation in the gene encoding mouse HIU hydrolase, Urah, that perturbes uric acid metabolism within the liver. The substitution of cysteine for tyrosine in a conserved helical region results in undetectable protein expression. Mice homozygous for this mutation develop elevated platelet counts secondary to excess thrombopoietin production and hepatomegaly. The majority of homozygous mutant mice also develop hepatocellular carcinoma, and tumor development is accelerated by exposure to radiation
Mus musculus
General Information
General Information
Commentary
Organism
physiological function
point mutation Y98Cin the gene encoding mouse HIU hydrolase, Urah, results in undetectable protein expression. Mice homozygous for this mutation develop elevated platelet counts secondary to excess thrombopoietin production and hepatomegaly. The majority of homozygous mutant mice also develop hepatocellular carcinoma, and tumor development is accelerated by exposure to radiation
Mus musculus
General Information (protein specific)
General Information
Commentary
Organism
physiological function
point mutation Y98Cin the gene encoding mouse HIU hydrolase, Urah, results in undetectable protein expression. Mice homozygous for this mutation develop elevated platelet counts secondary to excess thrombopoietin production and hepatomegaly. The majority of homozygous mutant mice also develop hepatocellular carcinoma, and tumor development is accelerated by exposure to radiation
Mus musculus
Other publictions for EC 3.5.2.17
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
Synonyms
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)
754447
Yamauchi
Sequential molecular events o ...
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753657
Richardson
Tweaking the structure to rad ...
Salmonella enterica subsp. enterica serovar Dublin
Front. Endocrinol. (Lausanne)
5
245
2015
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733937
Kasai
Characterization of Oncorhynch ...
Oncorhynchus mykiss
Gene
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326-336
2013
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718476
French
Structural and kinetic insight ...
Klebsiella pneumoniae, Klebsiella pneumoniae ATCC 700721
Acta Crystallogr. Sect. D
67
671-677
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720251
Cendron
Probing the evolution of hydro ...
Danio rerio
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2011
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711614
Pessoa
Functional characterization of ...
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BMC Plant Biol.
10
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713417
Stevenson
Deficiency of 5-hydroxyisourat ...
Mus musculus
Proc. Natl. Acad. Sci. USA
107
16625-16630
2010
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Stability and fibril formation ...
Chilotilapia rhoadesii, Escherichia coli, Homo sapiens
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1999-2011
2009
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A transthyretin-related protei ...
Herbaspirillum seropedicae
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712-716
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666761
Jung
Structural and functional anal ...
Bacillus subtilis
Proc. Natl. Acad. Sci. USA
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Hennebry
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688335
Zanotti
Structure of zebra fish HIUase ...
Danio rerio
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Mouse transthyretin-related pr ...
Mus musculus
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2006
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644454
Raychaudhuri
A familiar motif in a new cont ...
Glycine max
Biochemistry
42
6848-6852
2003
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Raychaudhuri
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644456
Sarma
Identification and purificatio ...
Glycine max
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