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    Urah urate (5-hydroxyiso-) hydrolase [ Mus musculus (house mouse) ]

    Gene ID: 76974, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Urahprovided by MGI
    Official Full Name
    urate (5-hydroxyiso-) hydrolaseprovided by MGI
    Primary source
    MGI:MGI:1916142
    See related
    Ensembl:ENSMUSG00000025481 AllianceGenome:MGI:1916142
    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
    Also known as
    HIUHase; 1190003J15Rik; 2810420C16Rik
    Summary
    Enables hydroxyisourate hydrolase activity. Involved in several processes, including purine nucleobase catabolic process; purine nucleoside catabolic process; and purine nucleoside monophosphate catabolic process. Located in mitochondrion. Is active in peroxisome. Used to study hyperuricemia. Orthologous to human URAHP (urate (hydroxyiso-) hydrolase, pseudogene). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in liver adult (RPKM 258.8), liver E18 (RPKM 41.1) and 2 other tissues See more
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    Genomic context

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    See Urah in Genome Data Viewer
    Location:
    7 F4; 7 86.03 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (140414936..140417884)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (140834958..140837971)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene synaptonemal complex central element protein 1 Neighboring gene predicted gene, 29799 Neighboring gene zinc finger protein 941 Neighboring gene RIKEN cDNA C330022C24 gene Neighboring gene STARR-seq mESC enhancer starr_20458 Neighboring gene STARR-positive B cell enhancer ABC_E4984 Neighboring gene secretoglobin, family 1C, member 1 Neighboring gene ciliary microtubule associated protein 1A

    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. Deficiency of 5-hydroxyisourate hydrolase causes hepatomegaly and hepatocellular carcinoma in mice. Stevenson WS, et al. Proc Natl Acad Sci U S A, 2010 Sep 21. PMID 20823251, Free PMC Article
    2. Hyperuricaemic UrahPlt2/Plt2 mice show altered T cell proliferation and defective tumor immunity after local immunotherapy with Poly I:C. Baey C, et al. PLoS One, 2018. PMID 30383838, Free PMC Article
    3. Adenosine deaminase of cultured brain cells. Trams EG, et al. Biochem J, 1975 Dec. PMID 16742956, Free PMC Article
    4. Mouse models for human hyperuricaemia: a critical review. Lu J, et al. Nat Rev Rheumatol, 2019 Jul. PMID 31118497
    5. Construction of a multi-functional cDNA library specific for mouse pancreatic islets and its application to microarray. Nishimura M, et al. DNA Res, 2004 Oct 31. PMID 15747579

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Substitution of cysteine for tyrosine in a conserved helical region of HIU hydrolase resulted in undetectable protein expression. Homozygotes for the mutation had elevated platelet counts secondary to excess thrombopoietin production and hepatomegaly.
      Title: Deficiency of 5-hydroxyisourate hydrolase causes hepatomegaly and hepatocellular carcinoma in mice.
    2. Identified as the gene encoding the enzyme catalyzing the second step of the pathway from uric acid to S-allantoin.
      Title: Completing the uric acid degradation pathway through phylogenetic comparison of whole genomes.
    3. Study provides evidence that mouse transthyretin-related protein facilitates the hydrolysis of 5-hydroxyisourate, the end product of the uricase reaction.
      Title: Mouse transthyretin-related protein is a hydrolase which degrades 5-hydroxyisourate, the end product of the uricase reaction.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (1)  1 citation
    • Gene trapped (1) 

    Pathways from PubChem

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    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables hydrolase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables hydroxyisourate hydrolase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in AMP catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in GMP catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in IMP catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in adenosine catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in allantoin metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in amide catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in dAMP catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in dGMP catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in deoxyadenosine catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in deoxyguanosine catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in deoxyinosine catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in guanine catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in hypoxanthine catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in inosine catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in purine nucleobase metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in urate catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in urate catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in xanthine catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrion HDA PubMed 
    is_active_in peroxisome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in peroxisome ISM
    Inferred from Sequence Model
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    5-hydroxyisourate hydrolase
    Names
    HIU hydrolase
    transthyretin-related protein
    NP_001334534.1
    NP_001346734.1
    NP_084097.1
    XP_030098952.1
    XP_030098953.1
    XP_036009449.1
    XP_036009450.1

    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_001347605.1 → NP_001334534.1  5-hydroxyisourate hydrolase isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC107815
      Consensus CDS
      CCDS85453.1
      UniProtKB/TrEMBL
      A0A0A0MQC3
      Related
      ENSMUSP00000101665.3, ENSMUST00000106050.8

    2. NM_001359805.1 → NP_001346734.1  5-hydroxyisourate hydrolase isoform 2

      Status: VALIDATED

      Source sequence(s)
      AA510160, AC107815, AK004470, BP776625
      Consensus CDS
      CCDS21986.1
      UniProtKB/Swiss-Prot
      Q9CRB3
      UniProtKB/TrEMBL
      A0A1B0GR99
      Related
      ENSMUSP00000147522.2, ENSMUST00000211372.2
      Conserved Domains (1) summary
      cd05822
      Location:6 → 118
      TLP_HIUase; HIUase (5-hydroxyisourate hydrolase) catalyzes the second step in a three-step ureide pathway in which 5-hydroxyisourate (HIU), a product of the uricase (urate oxidase) reaction, is hydrolyzed to 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline (OHCU). ...

    3. NM_029821.3 → NP_084097.1  5-hydroxyisourate hydrolase isoform 2

      See identical proteins and their annotated locations for NP_084097.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AK004470, AK013117, BP776625, BY145477
      Consensus CDS
      CCDS21986.1
      UniProtKB/Swiss-Prot
      Q9CRB3
      UniProtKB/TrEMBL
      A0A1B0GR99
      Related
      ENSMUSP00000026554.5, ENSMUST00000026554.11
      Conserved Domains (1) summary
      cd05822
      Location:6 → 118
      TLP_HIUase; HIUase (5-hydroxyisourate hydrolase) catalyzes the second step in a three-step ureide pathway in which 5-hydroxyisourate (HIU), a product of the uricase (urate oxidase) reaction, is hydrolyzed to 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline (OHCU). ...

    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_000073.7 Reference GRCm39 C57BL/6J

      Range
      140414936..140417884
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030243092.2 → XP_030098952.1  5-hydroxyisourate hydrolase isoform X1

      UniProtKB/TrEMBL
      A0A1B0GSD0
      Conserved Domains (1) summary
      cl21470
      Location:29 → 112
      Peptidase_M14NE-CP-C_like; Peptidase associated domain: C-terminal domain of M14 N/E carboxypeptidase; putative folding, regulation, or interaction domain

    2. XM_036153557.1 → XP_036009450.1  5-hydroxyisourate hydrolase isoform X2

      UniProtKB/TrEMBL
      A0A1B0GSD0
      Related
      ENSMUSP00000147888.2, ENSMUST00000209978.2
      Conserved Domains (1) summary
      cl21470
      Location:6 → 89
      Peptidase_M14NE-CP-C_like; Peptidase associated domain: C-terminal domain of M14 N/E carboxypeptidase; putative folding, regulation, or interaction domain

    3. XM_030243093.1 → XP_030098953.1  5-hydroxyisourate hydrolase isoform X3

      UniProtKB/Swiss-Prot
      Q9CRB3
      UniProtKB/TrEMBL
      A0A1B0GR99
      Related
      ENSMUSP00000147435.2, ENSMUST00000210916.2
      Conserved Domains (1) summary
      cd05822
      Location:6 → 118
      TLP_HIUase; HIUase (5-hydroxyisourate hydrolase) catalyzes the second step in a three-step ureide pathway in which 5-hydroxyisourate (HIU), a product of the uricase (urate oxidase) reaction, is hydrolyzed to 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline (OHCU). ...

    4. XM_036153556.1 → XP_036009449.1  5-hydroxyisourate hydrolase isoform X2

      UniProtKB/TrEMBL
      A0A1B0GSD0
      Conserved Domains (1) summary
      cl21470
      Location:6 → 89
      Peptidase_M14NE-CP-C_like; Peptidase associated domain: C-terminal domain of M14 N/E carboxypeptidase; putative folding, regulation, or interaction domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9CRB3.1 GenPept UniProtKB/Swiss-Prot:Q9CRB3

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