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    Uroc1 urocanase domain containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 243537, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Uroc1provided by MGI
    Official Full Name
    urocanase domain containing 1provided by MGI
    Primary source
    MGI:MGI:2385332
    See related
    Ensembl:ENSMUSG00000034456 AllianceGenome:MGI:2385332
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    Predicted to enable urocanate hydratase activity. Predicted to be involved in L-histidine catabolic process. Predicted to be located in cytosol. Is expressed in alimentary system; liver; and liver lobe. Human ortholog(s) of this gene implicated in urocanase deficiency. Orthologous to human UROC1 (urocanate hydratase 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in liver adult (RPKM 160.1), liver E18 (RPKM 41.1) and 3 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Uroc1 in Genome Data Viewer
    Location:
    6 D1; 6 40.15 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (90310221..90341533)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (90333239..90364551)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene cDNA sequence BC048671 Neighboring gene carbohydrate sulfotransferase 13 Neighboring gene STARR-positive B cell enhancer ABC_E10392 Neighboring gene STARR-seq mESC enhancer starr_16614 Neighboring gene ZXD family zinc finger C Neighboring gene STARR-seq mESC enhancer starr_16615 Neighboring gene cilia and flagella associated protein 100 Neighboring gene predicted gene, 53295

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. GenePaint.org: an atlas of gene expression patterns in the mouse embryo. Visel A, et al. Nucleic Acids Res, 2004 Jan 1. PMID 14681479, Free PMC Article
    2. Genetic determinants of micronucleus formation in vivo. Adams DJ, et al. Nature, 2024 Mar. PMID 38355793, Free PMC Article
    3. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article
    4. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. Diez-Roux G, et al. PLoS Biol, 2011 Jan 18. PMID 21267068, Free PMC Article
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Clone Names

    • MGC37818

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables urocanate hydratase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables urocanate hydratase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables urocanate hydratase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in L-histidine catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in L-histidine catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in L-histidine catabolic process to glutamate and formamide IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in L-histidine catabolic process to glutamate and formate IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    urocanate hydratase
    Names
    imidazolonepropionate hydrolase
    NP_001334258.1
    NP_659189.2
    XP_006506155.1
    XP_006506156.1

    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.

    mRNA and Protein(s)

    1. NM_001347329.1 → NP_001334258.1  urocanate hydratase isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC163346, AK149464
      Consensus CDS
      CCDS85094.1
      UniProtKB/TrEMBL
      Q3UEL5
      Related
      ENSMUSP00000127114.2, ENSMUST00000164761.6

    2. NM_144940.2 → NP_659189.2  urocanate hydratase isoform 2

      See identical proteins and their annotated locations for NP_659189.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the coding region, compared to variant 1. It encodes a shorter isoform (2), compared to isoform 1.
      Source sequence(s)
      AC163346, AK149464
      Consensus CDS
      CCDS39561.1
      UniProtKB/Swiss-Prot
      E9QNN2, Q8VC12
      Related
      ENSMUSP00000040424.10, ENSMUST00000046128.12
      Conserved Domains (1) summary
      PRK05414
      Location:74 → 662
      PRK05414; urocanate hydratase; Provisional

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000072.7 Reference GRCm39 C57BL/6J

      Range
      90310221..90341533
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006506093.4 → XP_006506156.1  urocanate hydratase isoform X2

      Conserved Domains (1) summary
      cl19311
      Location:74 → 448
      Urocanase; Urocanase Rossmann-like domain

    2. XM_006506092.2 → XP_006506155.1  urocanate hydratase isoform X1

      Conserved Domains (1) summary
      cl19311
      Location:1 → 555
      Urocanase; Urocanase Rossmann-like domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8VC12.2 GenPept UniProtKB/Swiss-Prot:Q8VC12

    Gene LinkOut

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

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