Free for academic non-profit institutions. Other users need a Commercial license

Aliases for UROC1 Gene

Aliases for UROC1 Gene

  • Urocanate Hydratase 1 2 3
  • Imidazolonepropionate Hydrolase 3 4
  • Urocanase Domain Containing 1 2 3
  • Urocanase 1 2 3
  • EC 4 63
  • Urocanate Hydratase 3
  • Urocanase 4
  • HMFN0320 3

External Ids for UROC1 Gene

Previous GeneCards Identifiers for UROC1 Gene

  • GC03M127683
  • GC03M126200
  • GC03M123581

Summaries for UROC1 Gene

Entrez Gene Summary for UROC1 Gene

  • This gene encodes an enzyme involved in histidine catabolism, metabolizing urocanic acid to formiminoglutamic acid. The gene product is known to protect the skin from ultra violet rays and is contained in human sweat. Deficiency of this gene product in the liver is an apparent cause of mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

GeneCards Summary for UROC1 Gene

UROC1 (Urocanate Hydratase 1) is a Protein Coding gene. Diseases associated with UROC1 include urocanase deficiency and urocanic aciduria. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include urocanate hydratase activity.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UROC1 Gene

Genomics for UROC1 Gene

Regulatory Elements for UROC1 Gene

Genomic Location for UROC1 Gene

126,481,165 bp from pter
126,517,773 bp from pter
36,609 bases
Minus strand

Genomic View for UROC1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for UROC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UROC1 Gene

Proteins for UROC1 Gene

  • Protein details for UROC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Urocanate hydratase
    Protein Accession:
    Secondary Accessions:
    • E9PE13
    • Q14C64
    • Q68CJ7

    Protein attributes for UROC1 Gene

    676 amino acids
    Molecular mass:
    74831 Da
    Name=NAD(+); Xref=ChEBI:CHEBI:57540;
    Quaternary structure:
    No Data Available
    • Sequence=BAD38651.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for UROC1 Gene


neXtProt entry for UROC1 Gene

Proteomics data for UROC1 Gene at MOPED

Selected DME Specific Peptides for UROC1 Gene

Post-translational modifications for UROC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for UROC1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

Domains for UROC1 Gene

Protein Domains for UROC1 Gene


Suggested Antigen Peptide Sequences for UROC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the urocanase family.
  • Belongs to the urocanase family.
genes like me logo Genes that share domains with UROC1: view

No data available for Gene Families for UROC1 Gene

Function for UROC1 Gene

Molecular function for UROC1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
3-(5-oxo-4,5-dihydro-3H-imidazol-4-yl)propanoate = urocanate + H(2)O.

Enzyme Numbers (IUBMB) for UROC1 Gene

Gene Ontology (GO) - Molecular Function for UROC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016153 urocanate hydratase activity IDA 19304569
genes like me logo Genes that share ontologies with UROC1: view

Phenotypes for UROC1 Gene

GenomeRNAi human phenotypes for UROC1:
genes like me logo Genes that share phenotypes with UROC1: view

Animal Model Products

miRNA for UROC1 Gene

miRTarBase miRNAs that target UROC1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for UROC1

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for UROC1 Gene

Localization for UROC1 Gene

Subcellular locations from

Jensen Localization Image for UROC1 Gene COMPARTMENTS Subcellular localization image for UROC1 gene
Compartment Confidence
cytosol 4
mitochondrion 2
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for UROC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with UROC1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for UROC1 Gene

Pathways for UROC1 Gene

genes like me logo Genes that share pathways with UROC1: view

Pathways by source for UROC1 Gene

2 KEGG pathways for UROC1 Gene

UniProtKB/Swiss-Prot Q96N76-HUTU_HUMAN

  • Pathway: Amino-acid degradation; L-histidine degradation into L-glutamate; N-formimidoyl-L-glutamate from L-histidine: step 2/3

Interacting Proteins for UROC1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
Selected Interacting proteins: ENSP00000373073 for UROC1 Gene via STRING

Gene Ontology (GO) - Biological Process for UROC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006548 histidine catabolic process TAS --
GO:0019556 histidine catabolic process to glutamate and formamide IEA --
GO:0019557 histidine catabolic process to glutamate and formate IEA --
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with UROC1: view

Compounds for UROC1 Gene

(6) HMDB Compounds for UROC1 Gene

Compound Synonyms Cas Number PubMed IDs
2-Ketobutyric acid
  • 2-Ketobutanoate
4-Imidazolone-5-propionic acid
  • 4,5-dihydro-4-oxo-5-imidazolepropanoate
  • 3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate
  • 1,4-Dihydronicotinamide adenine dinucleotide
Urocanic acid
  • 3-(1H-Imidazol-4-yl)-2-propenoate
genes like me logo Genes that share compounds with UROC1: view

Transcripts for UROC1 Gene

mRNA/cDNA for UROC1 Gene

Unigene Clusters for UROC1 Gene

Urocanate hydratase 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for UROC1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for UROC1 Gene

No ASD Table

Relevant External Links for UROC1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for UROC1 Gene

mRNA expression in normal human tissues for UROC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for UROC1 Gene

This gene is overexpressed in Liver (50.8).

Protein differential expression in normal tissues for UROC1 Gene

This gene is overexpressed in Liver, secretome (32.9) and Liver (28.8).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for UROC1 Gene

SOURCE GeneReport for Unigene cluster for UROC1 Gene Hs.331148

genes like me logo Genes that share expressions with UROC1: view

Expression partners for UROC1 Gene

* - Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for UROC1 Gene

Orthologs for UROC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for UROC1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia UROC1 35
  • 85.78 (n)
  • 88 (a)
UROC1 36
  • 80 (a)
(Canis familiaris)
Mammalia UROC1 35
  • 87.51 (n)
  • 89.48 (a)
UROC1 36
  • 89 (a)
(Mus musculus)
Mammalia Uroc1 35
  • 87.26 (n)
  • 92 (a)
Uroc1 16
Uroc1 36
  • 92 (a)
(Rattus norvegicus)
Mammalia Uroc1 35
  • 86.39 (n)
  • 92.01 (a)
(Monodelphis domestica)
Mammalia UROC1 36
  • 85 (a)
(Ornithorhynchus anatinus)
Mammalia UROC1 36
  • 85 (a)
(Pan troglodytes)
Mammalia UROC1 36
  • 88 (a)
(Gallus gallus)
Aves UROC1 35
  • 72.99 (n)
  • 81.48 (a)
UROC1 36
  • 83 (a)
(Anolis carolinensis)
Reptilia UROC1 36
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia uroc1 35
  • 71.7 (n)
  • 78.7 (a)
(Danio rerio)
Actinopterygii Dr.11958 35
uroc1 35
  • 69.54 (n)
  • 76.56 (a)
uroc1 36
  • 76 (a)
(Caenorhabditis elegans)
Secernentea CELE_Y51H4A.7 35
  • 57.6 (n)
  • 62.06 (a)
Y51H4A.7 36
  • 60 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 66 (a)
Species with no ortholog for UROC1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for UROC1 Gene

Gene Tree for UROC1 (if available)
Gene Tree for UROC1 (if available)

Paralogs for UROC1 Gene

No data available for Paralogs for UROC1 Gene

Variants for UROC1 Gene

Sequence variations from dbSNP and Humsavar for UROC1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs708907 -- 126,493,103(-) GATGC(A/G)ATCAC intron-variant
rs729456 -- 126,509,567(-) GAAAC(C/T)GAGGC intron-variant
rs729457 -- 126,509,885(-) CCAAG(G/T)GGGGA intron-variant
rs748465 -- 126,488,949(-) ATAGC(C/T)GAGCA intron-variant
rs777474 -- 126,492,439(-) CAGGC(C/T)ATCGC reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for UROC1 Gene

Variant ID Type Subtype PubMed ID
nsv877432 CNV Loss 21882294
nsv829717 CNV Loss 17160897
dgv5246n71 CNV Loss 21882294
dgv5247n71 CNV Loss 21882294
nsv521785 CNV Loss 19592680
esv2725868 CNV Deletion 23290073
esv24916 CNV Gain 19812545
esv2725869 CNV Deletion 23290073

Relevant External Links for UROC1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UROC1 Gene

Disorders for UROC1 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for UROC1 Gene in MalaCards »

(2) Diseases for UROC1 Gene

(1) OMIM Diseases for UROC1 Gene (613012)


  • Urocanase deficiency (UROD) [MIM:276880]: An inborn error of histidine metabolism resulting in urocanic aciduria and neurological manifestations including mental retardation, ataxia, episodic aggressive behavior or exaggerated affection-seeking. {ECO:0000269 PubMed:19304569}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with UROC1: view

No data available for University of Copenhagen DISEASES , Novoseek inferred disease relationships , Genatlas and External Links for UROC1 Gene

Publications for UROC1 Gene

  1. Mutations in the urocanase gene UROC1 are associated with urocanic aciduria. (PMID: 19304569) Espinos C. … Artuch R. (J. Med. Genet. 2009) 2 3 4 23
  2. The urocanase story: a novel role of NAD+ as electrophile. (PMID: 7944380) RActey J. (Arch. Biochem. Biophys. 1994) 3 23
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas. (PMID: 15221005) Yamada S. … Nakagawara A. (Oncogene 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for UROC1 Gene

Sources for UROC1 Gene

Back to Top