Hprt1 hypoxanthine phosphoribosyltransferase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hprt1provided by MGI
Official Full Name: hypoxanthine phosphoribosyltransferase 1provided by MGI
Primary source: MGI:MGI:96217
See related: Ensembl:ENSMUSG00000025630 AllianceGenome:MGI:96217
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Hprt; HPGRT
Summary: The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides through the purine salvage pathway. [provided by RefSeq, Sep 2015]
Expression: Ubiquitous expression in liver E14 (RPKM 48.8), cerebellum adult (RPKM 42.3) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: X A5; X 29.31 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (52076955..52110537)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (52988078..53021660)

Chromosome X - NC_000086.8 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?

HPRT1 Deficiency Induces Alteration of Mitochondrial Energy Metabolism in the Brain.
Title: HPRT1 Deficiency Induces Alteration of Mitochondrial Energy Metabolism in the Brain.
HGprt deficiency disrupts dopaminergic circuit development in a genetic mouse model of Lesch-Nyhan disease.
Title: HGprt deficiency disrupts dopaminergic circuit development in a genetic mouse model of Lesch-Nyhan disease.
Xanthine oxidoreductase knockout mice with high HPRT activity were not rescued by NAD(+) replenishment.
Title: Xanthine oxidoreductase knockout mice with high HPRT activity were not rescued by NAD(+) replenishment.
The authors identified the HPRT-associated purine salvaging pathway as a critical contributor to Adult hematopoietic stem cell fitness in response to stress. Additionally, they provide evidence that the preference for HPRT-associated purine salvaging is unique for Adult hematopoietic stem cells within primitive hematopoietic stem and progenitor cells.
Title: HPRT and Purine Salvaging Are Critical for Hematopoietic Stem Cell Function.
The HGprt deficiency in mice is associated with a decrease in colon contractility.
Title: Altered gastrointestinal motility in an animal model of Lesch-Nyhan disease.
This study showed that in HPRT knockout mouse brain did not find any abnormalities change Neurotransmitter and their metabolite concentrations.
Title: Neurotransmitter and their metabolite concentrations in different areas of the HPRT knockout mouse brain.
six metabolites with significantly different contents in wild-type and HPRT-deficient mice, were found.
Title: Non-targeted metabolomics by high resolution mass spectrometry in HPRT knockout mice.
In the HGprt-deficient mouse model, stains for tyrosine hydroxylase (TH) reveal no obvious loss of midbrain dopamine neurons, but quantitative immunoblots reveal reduced TH expression in the striatum.
Title: Loss of dopamine phenotype among midbrain neurons in Lesch-Nyhan disease.
HPRT-deficiency alters cAMP/PKA signaling pathway, which is in part due to the increased of PDE10A expression and activi
Title: HPRT-deficiency dysregulates cAMP-PKA signaling and phosphodiesterase 10A expression: mechanistic insight and potential target for Lesch-Nyhan Disease?
Hprt is proposed as a reference gene for analysis of gene expression in neural developmental issues of the murine neocortex.
Title: Reference genes in the developing murine brain and in differentiating embryonic stem cells.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (5) 1 citation
Spontaneous (1) 1 citation
Targeted (240) 1 citation
Transgenic (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Hprt (e-PCR), detects polymorphism
- UniSTS:265222

Hprt (e-PCR), detects polymorphism
- UniSTS:178186

Hprt1 (e-PCR), detects polymorphism
- UniSTS:507413

PMC151108P1 (e-PCR)
- UniSTS:271134

PMC107853P1 (e-PCR)
- UniSTS:270126

Grhl3 (e-PCR), detects polymorphism
- UniSTS:531512

DXNds1 (e-PCR), detects polymorphism
- UniSTS:142912

PMC316377P3 (e-PCR)
- UniSTS:272970

PMC23548P1 (e-PCR)
- UniSTS:272205

C81579 (e-PCR)
- UniSTS:160881

PMC303347P2 (e-PCR)
- UniSTS:272503

PMC124351P1 (e-PCR)
- UniSTS:270464

Hprt (e-PCR), detects polymorphism
- UniSTS:528044

GDB:192504 (e-PCR)
- UniSTS:98989

PMC96436P1 (e-PCR)
- UniSTS:273627

PMC321611P2 (e-PCR)
- UniSTS:273124

PMC100053P1 (e-PCR)
- UniSTS:270054

Hprt1 (e-PCR), detects polymorphism
- UniSTS:265460

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables guanine phosphoribosyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables guanine phosphoribosyltransferase activity	ISO Inferred from Sequence Orthology more info	PubMed
enables guanine phosphoribosyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables hypoxanthine phosphoribosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables hypoxanthine phosphoribosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables hypoxanthine phosphoribosyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables hypoxanthine phosphoribosyltransferase activity	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables magnesium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables magnesium ion binding	IEA Inferred from Electronic Annotation more info
enables magnesium ion binding	ISO Inferred from Sequence Orthology more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in AMP salvage	IDA Inferred from Direct Assay more info	PubMed
involved_in GMP catabolic process	ISO Inferred from Sequence Orthology more info
involved_in GMP catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in GMP salvage	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within GMP salvage	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in GMP salvage	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in GMP salvage	ISO Inferred from Sequence Orthology more info	PubMed
involved_in IMP metabolic process	ISO Inferred from Sequence Orthology more info
involved_in IMP metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in IMP salvage	IBA Inferred from Biological aspect of Ancestor more info
involved_in IMP salvage	IEA Inferred from Electronic Annotation more info
involved_in IMP salvage	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within T cell mediated cytotoxicity	IMP Inferred from Mutant Phenotype more info
acts_upstream_of_or_within adenine metabolic process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within central nervous system neuron development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cerebral cortex neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within dendrite morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within dopamine metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within dopaminergic neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
NOT acts_upstream_of_or_within grooming behavior	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within grooming behavior	IGI Inferred from Genetic Interaction more info	PubMed
involved_in guanine salvage	IBA Inferred from Biological aspect of Ancestor more info
involved_in guanine salvage	IEA Inferred from Electronic Annotation more info
involved_in guanine salvage	ISO Inferred from Sequence Orthology more info
involved_in hypoxanthine metabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within hypoxanthine metabolic process	IC Inferred by Curator more info
acts_upstream_of_or_within hypoxanthine metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hypoxanthine metabolic process	ISO Inferred from Sequence Orthology more info
involved_in hypoxanthine salvage	ISO Inferred from Sequence Orthology more info
involved_in hypoxanthine salvage	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within locomotory behavior	IMP Inferred from Mutant Phenotype more info
acts_upstream_of_or_within lymphocyte proliferation	IMP Inferred from Mutant Phenotype more info
involved_in positive regulation of dopamine metabolic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of dopamine metabolic process	ISO Inferred from Sequence Orthology more info
involved_in protein homotetramerization	IEA Inferred from Electronic Annotation more info
involved_in protein homotetramerization	ISO Inferred from Sequence Orthology more info
involved_in purine nucleotide biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within purine ribonucleoside salvage	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within purine ribonucleoside salvage	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in purine ribonucleoside salvage	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to amphetamine	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within striatum development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: hypoxanthine-guanine phosphoribosyltransferase

Names: HGPRT; HGPRTase; HPRT B; hypoxanthine guanine phosphoribosyl transferase 1

NP_038584.2

EC 2.4.2.8

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.