Entity Details

Primary name UROC1
Entity type gene
Source Source Link

Details

PrimaryID131669
RefseqGeneNG_016286
SymbolUROC1
Nameurocanate hydratase 1
Chromosome3
Location3q21.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-12-01
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsHUTU_HUMAN

GO terms

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GOName
GO:0005829 cytosol
GO:0006548 histidine catabolic process
GO:0016153 urocanate hydratase activity
GO:0019556 histidine catabolic process to glutamate and formamide
GO:0019557 histidine catabolic process to glutamate and formate

Diseases

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Disease IDSourceNameDescription
276880 OMIMUrocanase deficiency (UROCD)An inborn error of histidine metabolism resulting in urocanic aciduria and neurological manifestations including mental retardation, ataxia, episodic aggressive behavior or exaggerated affection-seeking. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
UROC1ALX1BioGRID, IntAct32296183 details