Literature summary extracted from
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 (2009), J. Med. Genet., 46, 407-411.
Application
EC Number |
Application |
Comment |
Organism |
---|
4.2.1.49 |
medicine |
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 |
Homo sapiens |
Cloned(Commentary)
EC Number |
Cloned (Comment) |
Organism |
---|
4.2.1.49 |
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) |
Homo sapiens |
Protein Variants
EC Number |
Protein Variants |
Comment |
Organism |
---|
4.2.1.49 |
L70P/R450C |
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 |
Homo sapiens |
Organism
EC Number |
Organism |
UniProt |
Comment |
Textmining |
---|
4.2.1.49 |
Homo sapiens |
- |
- |
- |
Purification (Commentary)
EC Number |
Purification (Comment) |
Organism |
---|
4.2.1.49 |
native and mutant enzymes, by sonication, centrifugation and gel filtration |
Homo sapiens |
Substrates and Products (Substrate)
EC Number |
Substrates |
Comment Substrates |
Organism |
Products |
Comment (Products) |
Rev. |
Reac. |
---|
4.2.1.49 |
Urocanate + H2O |
- |
Homo sapiens |
4,5-Dihydro-4-oxo-5-imidazolepropanoate |
- |
? |
|
Synonyms
EC Number |
Synonyms |
Comment |
Organism |
---|
4.2.1.49 |
UROC1 |
- |
Homo sapiens |
4.2.1.49 |
Urocanase |
- |
Homo sapiens |
General Information
EC Number |
General Information |
Comment |
Organism |
---|
4.2.1.49 |
malfunction |
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 |
Homo sapiens |