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 cognitive disability. Multiple transcript variants encoding different isoforms have been foun... See more...

Aliases for UROC1 Gene

Aliases for UROC1 Gene

  • Urocanate Hydratase 1 2 3 5
  • Imidazolonepropionate Hydrolase 3 4
  • Urocanase Domain Containing 1 2 3
  • Urocanate Hydratase 3 4
  • Urocanase 1 2 3
  • EC 4.2.1.49 4 51
  • HMFN0320 2 3
  • Urocanase 4
  • FLJ31300 2
  • UROCD 3
  • UROC1 5

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 cognitive disability. 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 Histidine Metabolism Disease. Among its related pathways are Histidine metabolism and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include urocanate hydratase activity.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UROC1 Gene

Genomics for UROC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for UROC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J126517 Promoter/Enhancer 0.9 EPDnew dbSUPER 600.7 0.0 0 0.1 HNRNPL SP1 NR2F2 SAP130 CHD4 HNF4A RXRA RARA MAX NR2F6 UROC1 lnc-CFAP100-11 ZXDC
GH03J126519 Enhancer 0.8 Ensembl dbSUPER 600.7 -0.9 -928 0.6 HNRNPL GATAD2A SOX13 RXRB SP1 CEBPA TCF7 FOXA2 YY1 TEAD1 UROC1 CHST13 C3orf22
GH03J126654 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 11.4 -136.9 -136928 2.2 RBFOX2 POLR2A IRF2 BRD4 CTCF ZFX NRF1 KLF9 TAF1 SP2 TXNRD3 CHST13 UROC1 CHCHD6 ENSG00000248557 LOC100419878 lnc-CHCHD6-4 ENSG00000288436
GH03J126547 Enhancer 0.8 FANTOM5 Ensembl dbSUPER 11.8 -31.0 -31027 3.6 ZIC2 CTCF RAD21 NANOG HLF CHST13 UROC1 TXNRD3 NUP210P1 ZXDC lnc-CHST13-1 C3orf22
GH03J126552 Enhancer 0.3 Ensembl dbSUPER 11.8 -33.9 -33851 0.4 CHST13 UROC1 C3orf22 lnc-CHST13-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UROC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UROC1

Top Transcription factor binding sites by QIAGEN in the UROC1 gene promoter:
  • AML1a
  • ATF6
  • E47
  • MIF-1
  • Pax-4a
  • Pax-5
  • RP58
  • USF-1
  • USF1
  • Zic3

Genomic Locations for UROC1 Gene

Genomic Locations for UROC1 Gene
chr3:126,481,166-126,517,773
(GRCh38/hg38)
Size:
36,608 bases
Orientation:
Minus strand
chr3:126,200,008-126,236,616
(GRCh37/hg19)
Size:
36,609 bases
Orientation:
Minus strand

Genomic View for UROC1 Gene

Genes around UROC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UROC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Q96N76-HUTU_HUMAN
    Recommended name:
    Urocanate hydratase
    Protein Accession:
    Q96N76
    Secondary Accessions:
    • E9PE13
    • Q14C64
    • Q68CJ7

    Protein attributes for UROC1 Gene

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

    Alternative splice isoforms for UROC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UROC1 Gene

Selected DME Specific Peptides for UROC1 Gene

Q96N76:
  • ELVTYGGNG
  • GFGPFRWVCTSG
  • MYGQMTAGS
  • HNGGGVG

Post-translational modifications for UROC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for UROC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for UROC1 Gene

Gene Families for UROC1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for UROC1 Gene

Suggested Antigen Peptide Sequences for UROC1 Gene

GenScript: Design optimal peptide antigens:
  • Imidazolonepropionate hydrolase (HUTU_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96N76

UniProtKB/Swiss-Prot:

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

Function for UROC1 Gene

Molecular function for UROC1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=4-imidazolone-5-propanoate = H2O + trans-urocanate; Xref=Rhea:RHEA:13101, ChEBI:CHEBI:15377, ChEBI:CHEBI:17771, ChEBI:CHEBI:77893; EC=4.2.1.49; Evidence={ECO:0000269|PubMed:19304569};.

Enzyme Numbers (IUBMB) for UROC1 Gene

Phenotypes From GWAS Catalog for UROC1 Gene

Gene Ontology (GO) - Molecular Function for UROC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016153 urocanate hydratase activity IBA,IDA 19304569
GO:0016829 lyase activity IEA --
genes like me logo Genes that share ontologies with UROC1: view
genes like me logo Genes that share phenotypes with UROC1: view

Human Phenotype Ontology for UROC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for UROC1 Gene

miRTarBase miRNAs that target UROC1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UROC1

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

Localization for UROC1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UROC1 gene
Compartment Confidence
cytosol 4
mitochondrion 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for UROC1 Gene

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for UROC1 Gene

Pathways & Interactions for UROC1 Gene

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

Pathways by source 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.

Gene Ontology (GO) - Biological Process for UROC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006547 histidine metabolic process IEA --
GO:0006548 histidine catabolic process IMP,TAS --
GO:0019556 histidine catabolic process to glutamate and formamide IEA --
GO:0019557 histidine catabolic process to glutamate and formate IEA --
genes like me logo Genes that share ontologies with UROC1: view

No data available for SIGNOR curated interactions for UROC1 Gene

Drugs & Compounds for UROC1 Gene

(4) Drugs for UROC1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
NADH Approved Nutra 0
2-Ketobutyric acid Experimental Pharma 0
NAD Experimental Pharma Agonist, Full agonist, Activator 0

(2) Additional Compounds for UROC1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4-Imidazolone-5-propionic acid
  • 4,5-dihydro-4-oxo-5-Imidazolepropanoate
  • 4,5-dihydro-5-oxo-1H-Imidazole-4-propanoic acid
  • 4-Imidazolone-5-propanoate
  • Imidazol-4-one-5-propionic acid
  • 4,5-dihydro-4-oxo-5-Imidazolepropanoic acid
17340-16-8
urocanic acid
  • (2E)-3-(1H-Imidazol-4-yl)acrylic acid
  • (e)-3-(1H-Imidazol-4-yl)-2-propenoic acid
  • (2E)-3-(1H-Imidazol-4-yl)acrylate
  • Urocanate
  • (e)-3-(1H-Imidazol-4-yl)-2-propenoate
104-98-3, 3465-72-3
genes like me logo Genes that share compounds with UROC1: view

Transcripts for UROC1 Gene

mRNA/cDNA for UROC1 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UROC1

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

No ASD Table

Relevant External Links for UROC1 Gene

GeneLoc Exon Structure for
UROC1

Expression for UROC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 (x50.8).

Protein differential expression in normal tissues from HIPED for UROC1 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for UROC1 Gene



Protein tissue co-expression partners for UROC1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UROC1

SOURCE GeneReport for Unigene cluster for UROC1 Gene:

Hs.331148

Evidence on tissue expression from TISSUES for UROC1 Gene

  • Liver(4.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for UROC1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • urinary
Regions:
Head and neck:
  • brain
  • eye
  • head
Abdomen:
  • kidney
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with UROC1: view

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
Chimpanzee
(Pan troglodytes)
Mammalia UROC1 31
  • 88 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia UROC1 30 31
  • 87.51 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Uroc1 30 17 31
  • 87.26 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Uroc1 30
  • 86.39 (n)
Cow
(Bos Taurus)
Mammalia UROC1 30 31
  • 85.78 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia UROC1 31
  • 85 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia UROC1 31
  • 85 (a)
OneToOne
Chicken
(Gallus gallus)
Aves UROC1 30 31
  • 72.99 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia UROC1 31
  • 80 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia uroc1 30
  • 71.7 (n)
Zebrafish
(Danio rerio)
Actinopterygii uroc1 30 31
  • 69.54 (n)
OneToOne
Dr.11958 30
Worm
(Caenorhabditis elegans)
Secernentea Y51H4A.7 31
  • 60 (a)
OneToOne
CELE_Y51H4A.7 30
  • 57.6 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 66 (a)
OneToOne
Species where no ortholog for UROC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

ENSEMBL:
Gene Tree for UROC1 (if available)
TreeFam:
Gene Tree for UROC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UROC1: view image

Paralogs for UROC1 Gene

No data available for Paralogs for UROC1 Gene

Variants for UROC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UROC1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
638417 Conflicting Interpretations: Urocanate hydratase deficiency; not provided 126,504,043(-) C/T NONSENSE
717021 Likely Benign: not provided 126,510,762(-) G/A SYNONYMOUS_VARIANT
717197 Likely Benign: not provided 126,506,006(-) C/T MISSENSE_VARIANT
717198 Likely Benign: not provided 126,507,778(-) G/A MISSENSE_VARIANT
719662 Likely Benign: not provided 126,500,091(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for UROC1 Gene

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

Variant ID Type Subtype PubMed ID
dgv8549n54 CNV loss 21841781
dgv8550n54 CNV gain+loss 21841781
dgv8551n54 CNV gain 21841781
dgv8552n54 CNV loss 21841781
esv24916 CNV gain 19812545
esv2725868 CNV deletion 23290073
esv2725869 CNV deletion 23290073
esv3373079 CNV duplication 20981092
nsv1072713 CNV deletion 25765185
nsv1112834 CNV deletion 24896259
nsv475571 CNV novel sequence insertion 20440878
nsv476595 CNV novel sequence insertion 20440878
nsv521785 CNV loss 19592680
nsv591515 CNV loss 21841781
nsv591520 CNV gain 21841781
nsv591523 CNV loss 21841781
nsv829717 CNV loss 17160897
nsv955337 CNV deletion 24416366
nsv955338 CNV deletion 24416366

Variation tolerance for UROC1 Gene

Residual Variation Intolerance Score: 79.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.11; 69.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UROC1 Gene

Human Gene Mutation Database (HGMD)
UROC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UROC1

SNP Genotyping and Copy Number Assay Products

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

Disorders for UROC1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for UROC1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
urocanase deficiency
  • urocd
histidine metabolism disease
  • disturbances of histidine metabolism
glutamate formiminotransferase deficiency
  • formiminotransferase deficiency
histidinemia
  • histidine ammonia-lyase deficiency
- elite association - COSMIC cancer census association via MalaCards
Search UROC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HUTU_HUMAN
  • Urocanase deficiency (UROCD) [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 Genatlas for UROC1 Gene

Publications for UROC1 Gene

  1. Mutations in the urocanase gene UROC1 are associated with urocanic aciduria. (PMID: 19304569) Espinós C … Artuch R (Journal of medical genetics 2009) 2 3 4 23
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 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 urocanase story: a novel role of NAD+ as electrophile. (PMID: 7944380) Rétey J (Archives of biochemistry and biophysics 1994) 3 23

Products for UROC1 Gene

Sources for UROC1 Gene