UROC1 - urocanate hydratase 1 Gene

Also Known as UROCD; HMFN0320

生物種: Homo sapiens (human)

遺伝子タイプ: protein coding
遺伝子ID: 131669

Summary

This gene encodes an enzyme involved in the second step of histidine catabolism, metabolizing urocanic acid to formiminoglutamic acid. Deficiency of this enzyme results in urocanic aciduria, and is an apparent cause of mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2021]

UROC1 Products (1)

mRNA Protein Name
NM_001165974.2 NP_001159446.1 urocanate hydratase isoform 2

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence 参考文献 由来
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables urocanate hydratase activity IDA
IDA: Inferred from direct assay
19304569 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in L-histidine catabolic process IMP
IMP: Inferred from mutant phenotype
19304569 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
located in cytosol IDA
IDA: Inferred from direct assay
19304569 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

urocanate hydratase

  • imidazolonepropionate hydrolase

  • urocanase 1

  • urocanase domain containing 1

UROC1 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
UROC1 Q96N76 ALX1 Homo sapiens Q15699
Y2H Array
32296183
Intra
UROC1 Q96N76 ALX1 Homo sapiens Q15699
Y2H Prey Pooling
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction