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

Summary

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, Dec 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

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_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.

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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)

General gene information

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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 more info	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

EC 3.5.2.17

NP_001346734.1

EC 3.5.2.17

NP_084097.1

EC 3.5.2.17

XP_030098952.1

EC 3.5.2.17

XP_030098953.1

EC 3.5.2.17

XP_036009449.1

EC 3.5.2.17

XP_036009450.1

EC 3.5.2.17

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)

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
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). ...
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

NC_000073.7 Reference GRCm39 C57BL/6J

Range

140414936..140417884

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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). ...
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