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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
HPRT1
hypoxanthine phosphoribosyltransferase 1
Chromosome X Β· Xq26.2-q26.3
NCBI Gene: 3251Ensembl: ENSG00000165704.16HGNC: HGNC:5157UniProt: A0A140VJL3
265PubMed Papers
22Diseases
0Drugs
118Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
GMP salvagemagnesium ion bindinghypoxanthine phosphoribosyltransferase activityprotein bindingLesch-Nyhan syndromehypoxanthine guanine phosphoribosyltransferase partial deficiencyneurodegenerative diseaseDystonia
✦AI Summary

HPRT1 (hypoxanthine phosphoribosyltransferase 1) is a purine salvage enzyme that catalyzes the conversion of guanine to guanosine monophosphate and hypoxanthine to inosine monophosphate by transferring the 5-phosphoribosyl group from 5-phosphoribosylpyrophosphate [UniProt]. This salvage pathway is essential for nucleotide homeostasis, particularly under metabolic stress conditions. When electron transport chain function is compromised, cells suppress de novo purine synthesis and enhance purine salvage through increased HPRT1 expression, driven by pentose phosphate pathway activation 1. In cancer contexts, HPRT1 plays multiple pro-tumorigenic roles: mutated EGFR upregulates HPRT1 via HIF-1Ξ±-mediated transcriptional activation to promote lung adenocarcinoma tumorigenesis and gefitinib resistance 2; HPRT1 catalyzes conversion of temozolomide metabolites to activate AMPK, driving glioblastoma chemoresistance 3; and HPRT1 upregulation correlates with poor prognosis and enhanced PD-1 expression in multiple cancer types 4. Conversely, HPRT1 deficiency causes Lesch-Nyhan syndrome, a severe X-linked neurogenetic disorder resulting from loss-of-function mutations 56. Emerging evidence suggests HPRT1 inhibition may sensitize cancer cells to standard therapies and that modulating HPRT1 activity could address metabolic imbalances in conditions like osteoporosis 7.

Sources cited
1
ETC defects suppress de novo purine synthesis while enhancing purine salvage through HPRT1, activated by pentose phosphate pathway; blocking HPRT1 sensitizes cancer cells
PMID: 38876105
2
Mutated EGFR increases HIF-1Ξ± expression which binds HPRT1 promoter to transcriptionally activate HPRT1, promoting purine metabolism and tumorigenesis in EGFR-mutant lung adenocarcinoma
PMID: 39343971
3
HPRT1 catalyzes conversion of temozolomide-derived AICA to AICAR, activating AMPK to drive ribonucleotide reductase activation and glioblastoma chemoresistance; HPRT1 inhibition sensitizes to TMZ
PMID: 37737247
4
HPRT1 upregulation promotes purine anabolism and prevents ROS accumulation to reverse oxidative damage in osteoblasts; FoxO1-SIRT3 pathway regulates HPRT1 expression
PMID: 39500875
5
HPRT1 loss-of-function mutations cause Lesch-Nyhan syndrome, a rare X-linked neurogenetic disorder of purine metabolism
PMID: 27379977
6
Novel HPRT1 missense mutations lead to HGprt-related neurological dysfunction in Lesch-Nyhan disease
PMID: 29185864
7
HPRT1 is significantly upregulated in multiple cancer types and correlates with poor prognosis and PD-1 expression; plays carcinogenic role in tumor cell proliferation, migration, and invasion
PMID: 38159260
Disease Associationsβ“˜22
Lesch-Nyhan syndromeOpen Targets
0.86Strong
hypoxanthine guanine phosphoribosyltransferase partial deficiencyOpen Targets
0.83Strong
neurodegenerative diseaseOpen Targets
0.44Moderate
DystoniaOpen Targets
0.37Weak
neuroinflammatory disorderOpen Targets
0.37Weak
nephrolithiasisOpen Targets
0.36Weak
nephrocalcinosisOpen Targets
0.35Weak
endometriosisOpen Targets
0.12Weak
genetic disorderOpen Targets
0.12Weak
microcephalyOpen Targets
0.11Weak
neoplasmOpen Targets
0.10Weak
head and neck squamous cell carcinomaOpen Targets
0.10Weak
cancerOpen Targets
0.10Weak
oral squamous cell carcinomaOpen Targets
0.10Suggestive
Parkinson diseaseOpen Targets
0.09Suggestive
Blackfan-Diamond anemiaOpen Targets
0.09Suggestive
MODYOpen Targets
0.09Suggestive
glioblastoma multiformeOpen Targets
0.09Suggestive
lung adenocarcinomaOpen Targets
0.09Suggestive
nephrotic syndromeOpen Targets
0.09Suggestive
Hyperuricemia, HPRT-relatedUniProt
Lesch-Nyhan syndromeUniProt
Pathogenic Variants118
NM_000194.3(HPRT1):c.143G>A (p.Arg48His)Pathogenic
Lesch-nyhan syndrome, neurologic variant|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency;Lesch-Nyhan syndrome|not provided|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency|HPRT1-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 48
NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter)Pathogenic
Lesch-Nyhan syndrome|HPRT FUJIMI|not provided|Microcephaly|Lesch-Nyhan syndrome;Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 51
NM_000194.3(HPRT1):c.486-1G>APathogenic
not provided|Lesch-Nyhan syndrome;Partial hypoxanthine-guanine phosphoribosyltransferase deficiency|Thyroid cancer, nonmedullary, 1|Nonpapillary renal cell carcinoma
β˜…β˜…β˜†β˜†2025
NM_000194.3(HPRT1):c.384+1G>APathogenic
not provided|Lesch-Nyhan syndrome;Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
β˜…β˜…β˜†β˜†2024
NM_000194.3(HPRT1):c.508C>T (p.Arg170Ter)Pathogenic
Lesch-Nyhan syndrome|Lesch-Nyhan syndrome;Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
β˜…β˜…β˜†β˜†2024β†’ Residue 170
NM_000194.3(HPRT1):c.212dup (p.Tyr72fs)Pathogenic
not provided|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency;Lesch-Nyhan syndrome|Lesch-Nyhan syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 72
NM_000194.3(HPRT1):c.325C>T (p.Gln109Ter)Pathogenic
Lesch-Nyhan syndrome|Lesch-Nyhan syndrome;Partial hypoxanthine-guanine phosphoribosyltransferase deficiency|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 109
NM_000194.3(HPRT1):c.289_290del (p.Val97fs)Pathogenic
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency;Lesch-Nyhan syndrome|Lesch-Nyhan syndrome
β˜…β˜…β˜†β˜†2022β†’ Residue 97
NM_000194.3(HPRT1):c.532+1_532+2delLikely pathogenic
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency;Lesch-Nyhan syndrome
β˜…β˜…β˜†β˜†2022
NM_000194.2(HPRT1):c.209G>A (p.Gly70Glu)Pathogenic
HPRT NEW HAVEN|Lesch-Nyhan syndrome|Lesch-Nyhan syndrome;Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
β˜…β˜†β˜†β˜†2025β†’ Residue 70
NM_000194.3(HPRT1):c.238G>T (p.Asp80Tyr)Likely pathogenic
Lesch-Nyhan syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 80
NM_000194.3(HPRT1):c.112C>G (p.Pro38Ala)Likely pathogenic
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency;Lesch-Nyhan syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 38
NM_000194.3(HPRT1):c.42del (p.Glu14fs)Pathogenic
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency;Lesch-Nyhan syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 14
NM_000194.3(HPRT1):c.27+174G>TLikely pathogenic
Lesch-Nyhan syndrome
β˜…β˜†β˜†β˜†2025
NM_000194.3(HPRT1):c.191C>A (p.Ala64Asp)Pathogenic
Lesch-Nyhan syndrome;Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
β˜…β˜†β˜†β˜†2025β†’ Residue 64
NM_000194.3(HPRT1):c.609+1G>APathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_000194.3(HPRT1):c.500G>T (p.Arg167Met)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 167
HPRT CHERMSIDEPathogenic
Lesch-Nyhan syndrome|HPRT CHERMSIDE|Lesch-Nyhan syndrome;Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
β˜…β˜†β˜†β˜†2025
NM_000194.3(HPRT1):c.609+5G>ALikely pathogenic
Lesch-Nyhan syndrome|not provided|HPRT1-related disorder
β˜…β˜†β˜†β˜†2025
NM_000194.2(HPRT1):c.389T>A (p.Val130Asp)Pathogenic
HPRT MIDLAND|Lesch-Nyhan syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 130
View on ClinVar β†—
Related Genes
PDE6GProtein interaction100%XDHProtein interaction99%PDE6BProtein interaction98%NT5C2Protein interaction97%NT5CProtein interaction97%NT5MProtein interaction96%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
76%
Heart
33%
Liver
23%
Ovary
19%
Lung
16%
Gene Interaction Network
Click a node to explore
HPRT1PDE6GXDHPDE6BNT5C2NT5CNT5M
PROTEIN STRUCTURE
Preparing viewer…
PDB5HIA Β· 1.77 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.48Moderately Constrained
pLIβ“˜
0.98Intolerant
Observed/Expected LoF0.21 [0.10–0.48]
RankingsWhere HPRT1 stands among ~20K protein-coding genes
  • #1,418of 20,598
    Most Researched265 Β· top 10%
  • #656of 5,498
    Most Pathogenic Variants118 Β· top quartile
  • #2,818of 17,882
    Most Constrained (LOEUF)0.48 Β· top quartile
Genes detectedHPRT1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Electron transport chain inhibition increases cellular dependence on purine transport and salvage.
PMID: 38876105
Cell Metab Β· 2024
1.00
2
PMID: 20301328
0.90
3
HIF-1Ξ±-HPRT1 axis promotes tumorigenesis and gefitinib resistance by enhancing purine metabolism in EGFR-mutant lung adenocarcinoma.
PMID: 39343971
J Exp Clin Cancer Res Β· 2024
0.80
4
Synthetic reversed sequences reveal default genomic states.
PMID: 38448583
Nature Β· 2024
0.76
5
Hypoxanthine phosphoribosyl transferase 1 metabolizes temozolomide to activate AMPK for driving chemoresistance of glioblastomas.
PMID: 37737247
Nat Commun Β· 2023
0.70