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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
    mouse all
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    Genomic context

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    See UROC1 in Genome Data Viewer
    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
    		Compare labs

    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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