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Information on EC 4.2.1.49 - urocanate hydratase and Organism(s) Homo sapiens

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EC Tree
     4 Lyases
         4.2 Carbon-oxygen lyases
             4.2.1 Hydro-lyases
                4.2.1.49 urocanate hydratase
IUBMB Comments
Contains tightly bound NAD+.
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Homo sapiens
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Word Map
The taxonomic range for the selected organisms is: Homo sapiens
The expected taxonomic range for this enzyme is: Bacteria, Eukaryota, Archaea
Synonyms
urocanase, urocanate hydratase, uroc1, more
SYNONYM
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
4'-Imidazolone-5'-propionate hydro-lyase
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4,5-dihydro-4-oxo-5-imidazole-propanoate hydro-lyase
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4-Imidazolone-5'-propionate hydrolyase
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Hydratase, urocanate
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Imidazolonepropionate hydrolase
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UROC1
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Urocanase
REACTION TYPE
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
elimination
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PATHWAY SOURCE
PATHWAYS
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-, -, -, -
SYSTEMATIC NAME
IUBMB Comments
3-(5-oxo-4,5-dihydro-3H-imidazol-4-yl)propanoate hydro-lyase (urocanate-forming)
Contains tightly bound NAD+.
CAS REGISTRY NUMBER
COMMENTARY hide
9014-58-8
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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
Urocanate + H2O
4,5-Dihydro-4-oxo-5-imidazolepropanoate
show the reaction diagram
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-
-
?
ORGANISM
COMMENTARY hide
LITERATURE
UNIPROT
SEQUENCE DB
SOURCE
-
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-
Manually annotated by BRENDA team
GENERAL INFORMATION
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
malfunction
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L70P and R450C mutations in the coding region of the UROC1 gene in a girl with urocanic aciduria presenting with mental retardation and intermittent ataxia. Both mutations cannot produce a fully functional enzyme, L70P substitution implies the disruption of an alpha-helix in the N-terminus, which alters its properties and therefore, its function. The R450C change renders impossible any interaction between urocanase and its substrate and loses its enzyme activity
UNIPROT
ENTRY NAME
ORGANISM
NO. OF AA
NO. OF TRANSM. HELICES
MOLECULAR WEIGHT[Da]
SOURCE
SEQUENCE
LOCALIZATION PREDICTION?
HUTU_HUMAN
676
0
74831
Swiss-Prot
Mitochondrion (Reliability: 3)
PROTEIN VARIANTS
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
L70P/R450C
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L70P and R450C mutations in the coding region of the UROC1 gene in a girl with urocanic aciduria presenting with mental retardation and intermittent ataxia. Both mutations cannot produce a fully functional enzyme, L70P substitution implies the disruption of an alpha-helix in the N-terminus, which alters its properties and therefore, its function. The R450C change renders impossible any interaction between urocanase and its substrate and loses its enzyme activity
PURIFICATION (Commentary)
ORGANISM
UNIPROT
LITERATURE
native and mutant enzymes, by sonication, centrifugation and gel filtration
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CLONED (Commentary)
ORGANISM
UNIPROT
LITERATURE
UROC1 gene cloned into the expression vector pET100/D-TOPO with an N-terminal tag containing the Xpress epitope and a 6xHis-tag. Expressed in Escherichia coli BL21Start (D3)
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APPLICATION
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
medicine
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L70P and R450C mutations in the coding region of the UROC1 gene in a girl with urocanic aciduria presenting with mental retardation and intermittent ataxia. Both mutations cannot produce a fully functional enzyme, L70P substitution implies the disruption of an alpha-helix in the N-terminus, which alters its properties and therefore, its function. The R450C change renders impossible any interaction between urocanase and its substrate and loses its enzyme activity
REF.
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Espinos, C.; Pineda, M.; Martinez-Rubio, D.; Lupo, V.; Ormazabal, A.; Vilaseca, M.A.; Spaapen, L.J.; Palau, F.; Artuch, R.
Mutations in the urocanase gene UROC1 are associated with urocanic aciduria
J. Med. Genet.
46
407-411
2009
Homo sapiens
Manually annotated by BRENDA team