HPRT1 hypoxanthine phosphoribosyltransferase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HPRT1provided by HGNC
Official Full Name: hypoxanthine phosphoribosyltransferase 1provided by HGNC
Primary source: HGNC:HGNC:5157
See related: Ensembl:ENSG00000165704 MIM:308000; AllianceGenome:HGNC:5157
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HPRT; HGPRT
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. Mutations in this gene result in Lesch-Nyhan syndrome or gout.[provided by RefSeq, Jun 2009]
Expression: Broad expression in testis (RPKM 45.9), brain (RPKM 28.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq26.2-q26.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (134460165..134500668)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (132785328..132825827)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (133594195..133634698)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hypoxanthine phosphoribosyl transferase 1 metabolizes temozolomide to activate AMPK for driving chemoresistance of glioblastomas.
Title: Hypoxanthine phosphoribosyl transferase 1 metabolizes temozolomide to activate AMPK for driving chemoresistance of glioblastomas.
Expression variation of OGG1 and HPRT gene and DNA damage in arsenic exposed industrial workers.
Title: Expression variation of OGG1 and HPRT gene and DNA damage in arsenic exposed industrial workers.
Hypoxanthine-guanine phosphoribosyltransferase is activated via positive cooperativity between guanine and IMP.
Title: Hypoxanthine-guanine phosphoribosyltransferase is activated via positive cooperativity between guanine and IMP.
Overexpression of HPRT1 is associated with poor prognosis in head and neck squamous cell carcinoma.
Title: Overexpression of HPRT1 is associated with poor prognosis in head and neck squamous cell carcinoma.
HPRT promotes proliferation and metastasis in head and neck squamous cell carcinoma through direct interaction with STAT3.
Title: HPRT promotes proliferation and metastasis in head and neck squamous cell carcinoma through direct interaction with STAT3.
In vitro analysis reveals necroptotic signaling does not provoke DNA damage or HPRT mutations.
Title: In vitro analysis reveals necroptotic signaling does not provoke DNA damage or HPRT mutations.
The molecular dynamics behavior and structure-function relationship of hypoxanthine phosphoribosyltransferase 1 (HPRT1) missense mutations with Lesch-Nyhan disease and HPRT1-related gout were investigated using both wild-type and mutant HPRT.
Title: Understanding the structure-function relationship of HPRT1 missense mutations in association with Lesch-Nyhan disease and HPRT1-related gout by in silico mutational analysis.
PPIA, HPRT1, and YWHAZ Genes Are Suitable for Normalization of mRNA Expression in Long-Term Expanded Human Mesenchymal Stem Cells.
Title: PPIA, HPRT1, and YWHAZ Genes Are Suitable for Normalization of mRNA Expression in Long-Term Expanded Human Mesenchymal Stem Cells.
75% of Hypoxanthine-guanine phosphoribosyltransferase (HPRT)-deficiency carrier females presented skewed X chromosome inactivation (XCI) . Moreover, skewed XCI is significantly more frequent in Lesch-Nyhan disease (LND) carriers (83%) than in Lesch-Nyhan variant (LNV, 0-50%, depending on the phenotype severity).
Title: Skewed X inactivation in Lesch-Nyhan disease carrier females.
mutation in the human HPRT1 gene and the Lesch-Nyhan disease
Title: Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease.

Submit: New GeneRIF Correction See all GeneRIFs (90)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Lesch-Nyhan syndrome MedGen: C0023374 OMIM: 300322 GeneReviews: HPRT1 Disorders	not available
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency MedGen: C0268117 OMIM: 300323 GeneReviews: HPRT1 Disorders	not available

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2021-01-13) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-01-13) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vpr	vpr	Treatment of human primary astrocytes with HIV-1 Vpr downregulates expression of eleven genes, BNIP3, CYGB, DUOX2, DUSP1, FOXM1, GAPDH, HPRT1, MT3, MTL5, PTGS2, and SCARA3	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G67213 (e-PCR)
- UniSTS:186369

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

PMC156144P2 (e-PCR)
- UniSTS:271366

PMC156144P3 (e-PCR)
- UniSTS:271367

G42837 (e-PCR)
- UniSTS:94746

PMC313988P1 (e-PCR)
- UniSTS:272927

HPRT (e-PCR)
- UniSTS:99359

PMC313988P2 (e-PCR)
- UniSTS:272928

PMC99939P1 (e-PCR)
- UniSTS:273706

STS-V00530 (e-PCR)
- UniSTS:8754

PMC344179P1 (e-PCR)
- UniSTS:273204

PMC344179P2 (e-PCR)
- UniSTS:273205

GDB:185506 (e-PCR)
- UniSTS:155452

HPRT1_1621 (e-PCR)
- UniSTS:277325

GDB:181411 (e-PCR)
- UniSTS:155241

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

AL035130 (e-PCR)
- UniSTS:94640

STS-N33128 (e-PCR)
- UniSTS:6845

GDB:371809 (e-PCR)
- UniSTS:156889

PMC137113P1 (e-PCR)
- UniSTS:270817

PMC22513P1 (e-PCR)
- UniSTS:272116

GDB:177372 (e-PCR)
- UniSTS:154869

G67193 (e-PCR)
- UniSTS:186367

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables guanine phosphoribosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
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 identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables magnesium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables magnesium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in AMP salvage	IEA Inferred from Electronic Annotation more info
involved_in GMP catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in GMP salvage	IBA Inferred from Biological aspect of Ancestor more info
involved_in GMP salvage	IDA Inferred from Direct Assay more info	PubMed
involved_in IMP metabolic process	IDA Inferred from Direct Assay more info	PubMed
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 T cell mediated cytotoxicity	IEA Inferred from Electronic Annotation more info
involved_in adenine metabolic process	IEA Inferred from Electronic Annotation more info
involved_in central nervous system neuron development	IEA Inferred from Electronic Annotation more info
involved_in cerebral cortex neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in dendrite morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in dopamine metabolic process	IEA Inferred from Electronic Annotation more info
involved_in dopaminergic neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in grooming behavior	IEA Inferred from Electronic Annotation more info
involved_in guanine salvage	IBA Inferred from Biological aspect of Ancestor more info
involved_in guanine salvage	IDA Inferred from Direct Assay more info	PubMed
involved_in hypoxanthine metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in hypoxanthine metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hypoxanthine salvage	IDA Inferred from Direct Assay more info	PubMed
involved_in locomotory behavior	IEA Inferred from Electronic Annotation more info
involved_in lymphocyte proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of dopamine metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein homotetramerization	IPI Inferred from Physical Interaction more info	PubMed
involved_in purine nucleotide biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in purine ribonucleoside salvage	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to amphetamine	IEA Inferred from Electronic Annotation more info
involved_in striatum development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed

General protein information

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Preferred Names: hypoxanthine-guanine phosphoribosyltransferase

Names: HGPRTase; hypoxanthine guanine phosphoribosyl transferase; hypoxanthine-guanine phosphoribosyltransferase 1; testicular tissue protein Li 89

NP_000185.1

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.