Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
131669
Gene name Gene Name - the full gene name approved by the HGNC.
Urocanate hydratase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
UROC1
Synonyms (NCBI Gene) Gene synonyms aliases
HMFN0320, UROCD
Disease Acronyms (UniProt) Disease acronyms from UniProt database
UROCD
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q21.3
Summary Summary of gene provided in NCBI Entrez Gene.
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 transcr
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs137852795 G>A Pathogenic Missense variant, coding sequence variant
rs137852796 A>G Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT051488 hsa-let-7e-5p CLASH 23622248
MIRT1477069 hsa-miR-3138 CLIP-seq
MIRT1477070 hsa-miR-4520a-3p CLIP-seq
MIRT1477071 hsa-miR-4752 CLIP-seq
MIRT1477072 hsa-miR-4800-5p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005829 Component Cytosol IDA 19304569
GO:0005829 Component Cytosol TAS
GO:0006548 Process Histidine catabolic process IBA 21873635
GO:0006548 Process Histidine catabolic process IMP 19304569
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613012 26444 ENSG00000159650
Protein
UniProt ID Q96N76
Protein name Urocanate hydratase (Urocanase) (EC 4.2.1.49) (Imidazolonepropionate hydrolase)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17391 Urocanase_N 85 211 Urocanase N-terminal domain Domain
PF01175 Urocanase 214 437 Urocanase Rossmann-like domain Domain
PF17392 Urocanase_C 440 648 Urocanase C-terminal domain Domain
Sequence
Sequence length 676
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Histidine metabolism
Metabolic pathways
  Histidine catabolism
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Mental retardation Profound Mental Retardation, Severe intellectual disability, Mental deficiency, Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
19304569, 30619714, 27604308
Associations from Text Mining
Disease Name Relationship Type References
Ataxia Associate 19304569
Carcinoma Hepatocellular Associate 38305606
Chromosomal Instability Associate 38305606
Intellectual Disability Associate 19304569
Methylmalonic acidemia Associate 19304569
Neoplasms Associate 38305606
Non alcoholic Fatty Liver Disease Associate 38305606