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Aliases for UROC1 Gene

Aliases for UROC1 Gene

  • Urocanate Hydratase 1 2 3 5
  • Imidazolonepropionate Hydrolase 3 4
  • Urocanase Domain Containing 1 2 3
  • Urocanase 1 2 3
  • EC 4.2.1.49 4 63
  • Urocanase 4
  • HMFN0320 3
  • UROCD 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 Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. 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

Promoters for UROC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around UROC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for UROC1 Gene

Chromosome:
3
Start:
126,481,165 bp from pter
End:
126,517,773 bp from pter
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=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for UROC1 Gene

    UniProtKB/Swiss-Prot:

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:
REFSEQ proteins:

Domains & Families for UROC1 Gene

Protein Domains for UROC1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for UROC1 Gene

GenScript: Design optimal peptide antigens:

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

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

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

miRNA for UROC1 Gene

miRTarBase miRNAs that target UROC1

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for UROC1 Gene

Localization for UROC1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UROC1 Gene COMPARTMENTS Subcellular localization image for UROC1 gene
Compartment Confidence
cytosol 5
mitochondrion 2
nucleus 1
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components 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.

Interacting Proteins for UROC1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000373073%0d%0a9606.ENSP00000261208%0d%0a9606.ENSP00000266736%0d%0a
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:0034641 cellular nitrogen compound metabolic process TAS --
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
2-Ketobutyric acid Experimental Pharma 0
urocanic acid Experimental Pharma 0
NAD Pharma Full agonist, Agonist 0
NADH Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4-Imidazolone-5-propionic acid
  • (S)-3-(5-oxo-4,5-dihydro-3H-imidazol-4-yl)propanoate
  • (S)-3-(5-oxo-4,5-dihydro-3H-imidazol-4-yl)propanoic acid
  • 3-(4-Oxo-4,5-dihydro-1H-imidazol-5-yl)propanoate
  • 3-(4-Oxo-4,5-dihydro-1H-imidazol-5-yl)propanoic acid
  • 3-(5-Oxo-4,5-dihydro-3H-imidazol-4-yl)propanoate
17340-16-8
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
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:

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

No ASD Table

Relevant External Links for UROC1 Gene

GeneLoc Exon Structure for
UROC1
ECgene alternative splicing isoforms for
UROC1

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 (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, PaxDb, and MOPED for UROC1 Gene



SOURCE GeneReport for Unigene cluster for UROC1 Gene Hs.331148

genes like me logo Genes that share expression patterns with UROC1: view

Protein tissue co-expression partners for UROC1 Gene

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
chimpanzee
(Pan troglodytes)
Mammalia UROC1 36
  • 88 (a)
OneToOne
cow
(Bos Taurus)
Mammalia UROC1 36
  • 80 (a)
OneToOne
UROC1 35
  • 85.78 (n)
  • 88 (a)
dog
(Canis familiaris)
Mammalia UROC1 35
  • 87.51 (n)
  • 89.48 (a)
UROC1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Uroc1 16
Uroc1 36
  • 92 (a)
OneToOne
Uroc1 35
  • 87.26 (n)
  • 92 (a)
oppossum
(Monodelphis domestica)
Mammalia UROC1 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UROC1 36
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Uroc1 35
  • 86.39 (n)
  • 92.01 (a)
chicken
(Gallus gallus)
Aves UROC1 35
  • 72.99 (n)
  • 81.48 (a)
UROC1 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UROC1 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia uroc1 35
  • 71.7 (n)
  • 78.7 (a)
zebrafish
(Danio rerio)
Actinopterygii uroc1 36
  • 76 (a)
OneToOne
Dr.11958 35
uroc1 35
  • 69.54 (n)
  • 76.56 (a)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y51H4A.7 35
  • 57.6 (n)
  • 62.06 (a)
Y51H4A.7 36
  • 60 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 66 (a)
OneToOne
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

ENSEMBL:
Gene Tree for UROC1 (if available)
TreeFam:
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
rs34488036 - 126,507,782(-) CCTCC(C/T)GGACG reference, missense
rs35062810 - 126,501,251(-) GCTCA(C/G)CCTTG reference, missense
rs9871671 - 126,499,368(+) GTAGC(A/G)GAACT reference, missense
VAR_060221 Urocanase deficiency (UROCD)
VAR_062649 Urocanase deficiency (UROCD)

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

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)

Relevant External Links for UROC1 Gene

HapMap Linkage Disequilibrium report
UROC1
Human Gene Mutation Database (HGMD)
UROC1

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

Disorders for UROC1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for UROC1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
urocanase deficiency
  • encephalopathy due to urocanase deficiency
urocanic aciduria
  • urocanase deficiency
hereditary persistence of alpha-fetoprotein
  • alpha-fetoprotein, hereditary persistence
- 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.

Relevant External Links for UROC1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UROC1
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) Espinos C. … Artuch R. (J. Med. Genet. 2009) 2 3 4 23 67
  2. The urocanase story: a novel role of NAD+ as electrophile. (PMID: 7944380) RActey J. (Arch. Biochem. Biophys. 1994) 3 23
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3
  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

Products for UROC1 Gene

Sources for UROC1 Gene

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