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Information on EC 3.5.2.17 - hydroxyisourate hydrolase and Organism(s) Mus musculus and UniProt Accession Q9CRB3

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IUBMB Comments
The reaction is the first stage in the conversion of 5-hydroxyisourate into S-allantoin. This reaction will also occur spontaneously but more slowly.
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This record set is specific for:
Mus musculus
UNIPROT: Q9CRB3
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Word Map
The taxonomic range for the selected organisms is: Mus musculus
The expected taxonomic range for this enzyme is: Bacteria, Eukaryota, Archaea
Synonyms
transthyretin, transthyretin-like protein, hydroxyisourate hydrolase, hiuhase, 5-hydroxyisourate hydrolase, transthyretin-related protein, hiuase, hiu hydrolase, sbttr, ectrp, more
SYNONYM
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
5-hydroxyisourate hydrolase
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HIU hydrolase
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transthyretin-related protein
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5-hydroxyisourate hydrolase
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-
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HIUHase
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-
-
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Urah
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SYSTEMATIC NAME
IUBMB Comments
5-hydroxyisourate amidohydrolase
The reaction is the first stage in the conversion of 5-hydroxyisourate into S-allantoin. This reaction will also occur spontaneously but more slowly.
CAS REGISTRY NUMBER
COMMENTARY hide
255885-20-2
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SUBSTRATE
PRODUCT                       
REACTION DIAGRAM
ORGANISM
UNIPROT
COMMENTARY
(Substrate) hide
LITERATURE
(Substrate)
COMMENTARY
(Product) hide
LITERATURE
(Product)
Reversibility
r=reversible
ir=irreversible
?=not specified
5-hydroxyisourate + H2O
5-hydroxy-2-oxo-4-ureido-2,5-dihydro-1H-imidazole-5-carboxylate
show the reaction diagram
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-
-
?
ORGANISM
COMMENTARY hide
LITERATURE
UNIPROT
SEQUENCE DB
SOURCE
-
UniProt
Manually annotated by BRENDA team
GENERAL INFORMATION
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
physiological function
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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
UNIPROT
ENTRY NAME
ORGANISM
NO. OF AA
NO. OF TRANSM. HELICES
MOLECULAR WEIGHT[Da]
SOURCE
SEQUENCE
LOCALIZATION PREDICTION?
HIUH_MOUSE
118
0
13559
Swiss-Prot
other Location (Reliability: 2)
PROTEIN VARIANTS
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
H102N
10fold reduced activity
H11N
mutant almost abolishes activity
R51E
mutant almost abolishes activity
R51K
mutant fails to affect activity
S118A
mutation has no influence on activity
Y98C
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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
additional information
PURIFICATION (Commentary)
ORGANISM
UNIPROT
LITERATURE
glutathione-Sepharose 4B column chromatography
CLONED (Commentary)
ORGANISM
UNIPROT
LITERATURE
expressed in Escherichia coli BL21-DE3 cells
APPLICATION
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
medicine
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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
REF.
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Lee, Y.; Park, B.C.; Lee, d.o..H.; Bae, K.H.; Cho, S.; Lee, C.H.; Lee, J.S.; Myung, P.K.; Park, S.G.
Mouse transthyretin-related protein is a hydrolase which degrades 5-hydroxyisourate, the end product of the uricase reaction
Mol. Cell
22
141-145
2006
Mus musculus (Q9CRB3), Mus musculus
Manually annotated by BRENDA team
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.
Deficiency of 5-hydroxyisourate hydrolase causes hepatomegaly and hepatocellular carcinoma in mice
Proc. Natl. Acad. Sci. USA
107
16625-16630
2010
Mus musculus
Manually annotated by BRENDA team