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UROC1 urocanate hydratase 1 [ Homo sapiens (human) ]

Gene ID: 131669, updated on 10-Mar-2024

Summary

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Official Symbol
UROC1provided by HGNC
Official Full Name
urocanate hydratase 1provided by HGNC
Primary source
HGNC:HGNC:26444
See related
Ensembl:ENSG00000159650 MIM:613012; AllianceGenome:HGNC:26444
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
UROCD; HMFN0320
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]
Expression
Restricted expression toward liver (RPKM 20.9) See more
Orthologs
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Genomic context

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Location:
3q21.3
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (126481166..126517773, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (129213641..129250072, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (126200009..126236616, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene cilia and flagella associated protein 100 Neighboring gene uncharacterized LOC124906280 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126160086-126160721 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126167171-126168110 Neighboring gene ZXD family zinc finger C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126186579-126187556 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126193081-126193606 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14677 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14678 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:126204897-126205832 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:126207907-126209106 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126216345-126217222 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126229039-126229961 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:126239356-126239555 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126242322-126242822 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126242823-126243323 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126243384-126243884 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126243885-126244385 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126248434-126249422 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20439 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:126258788-126258962 Neighboring gene carbohydrate sulfotransferase 13 Neighboring gene chromosome 3 open reading frame 22 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr3:126267915-126268796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126268797-126269679 Neighboring gene uncharacterized LOC105374090 Neighboring gene RNA, 5S ribosomal pseudogene 138

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The urocanase story: a novel role of NAD+ as electrophile. Rétey J. Arch Biochem Biophys, 1994 Oct. PMID 7944380
  2. A liver urocanase deficiency. Kalafatic Z, et al. Metabolism, 1980 Oct. PMID 6107814
  3. Mutations in the urocanase gene UROC1 are associated with urocanic aciduria. Espinós C, et al. J Med Genet, 2009 Jun. PMID 19304569
  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. Yamada S, et al. Oncogene, 2004 Aug 5. PMID 15221005
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Prognostic and immune roles of UROC1 in human cancers: from mechanism exploration of NAFLD and HCC to pan-cancer analysis.
    Title: Prognostic and immune roles of UROC1 in human cancers: from mechanism exploration of NAFLD and HCC to pan-cancer analysis.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Urocanate hydratase deficiency
MedGen: C0268514 OMIM: 276880 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ31300, MGC135007, MGC135008

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables urocanate hydratase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables urocanate hydratase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in histidine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in histidine catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in histidine catabolic process to glutamate and formamide IEA
Inferred from Electronic Annotation
more info
  
involved_in histidine catabolic process to glutamate and formate IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
urocanate hydratase
Names
imidazolonepropionate hydrolase
urocanase 1
urocanase domain containing 1
NP_001159446.1
NP_653240.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016286.1 RefSeqGene

    Range
    4979..41586
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001165974.2 → NP_001159446.1  urocanate hydratase isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate in-frame exon and uses an alternate in-frame splice site in the coding region, compared to variant 1. This results in a longer protein (isoform 2) compared to isoform 1.
    Source sequence(s)
    AB075869, AC024558, AK055862, BX108463, DA638082
    Consensus CDS
    CCDS54636.1
    UniProtKB/Swiss-Prot
    Q96N76
    Related
    ENSP00000373073.3, ENST00000383579.3
    Conserved Domains (1) summary
    pfam01175
    Location:85 → 708
    Urocanase; Urocanase

  2. NM_144639.3 → NP_653240.1  urocanate hydratase isoform 1

    See identical proteins and their annotated locations for NP_653240.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the predominant isoform (1).
    Source sequence(s)
    AC024558, AK055862, BC115405, BX108463, DA638082
    Consensus CDS
    CCDS3038.1
    UniProtKB/Swiss-Prot
    E9PE13, Q14C64, Q68CJ7, Q96N76
    Related
    ENSP00000290868.2, ENST00000290868.7
    Conserved Domains (1) summary
    pfam01175
    Location:85 → 648
    Urocanase; Urocanase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    126481166..126517773 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    129213641..129250072 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96N76.1 GenPept UniProtKB/Swiss-Prot:Q96N76

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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