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

Gene ID: 76974, updated on 2-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 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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