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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PRTFDC1
phosphoribosyl transferase domain containing 1
Chromosome 10 · 10p12.1
NCBI Gene: 56952Ensembl: ENSG00000099256.20HGNC: HGNC:23333UniProt: Q9NRG1
32PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
hypoxanthine phosphoribosyltransferase activityguanine salvageGMP catabolic processprotein bindingAbnormality of the skeletal systempost-traumatic stress disorderhypertensionpreeclampsia
✦AI Summary

PRTFDC1 (phosphoribosyl transferase domain containing 1) is a phosphoribosyltransferase homolog with minimal catalytic activity toward purine bases. Structurally, PRTFDC1 resembles hypoxanthine-guanine phosphoribosyltransferase (HPRT) and binds GMP, IMP, and PRPP; however, its catalytic efficiency toward hypoxanthine and guanine is only 0.09-0.26% that of HPRT, primarily due to a glycine substitution at the catalytic aspartate position 1. Consequently, PRTFDC1 does not significantly contribute to purine salvage metabolism 1. PRTFDC1 has evolved under distinct evolutionary pressure compared to HPRT1, and was recently inactivated in mice but remains functional in humans 2. In disease contexts, PRTFDC1 appears to function as a tumor suppressor; its expression is frequently silenced through promoter hypermethylation in oral squamous-cell carcinomas 3 and ovarian cancers 4, and restoration of PRTFDC1 expression inhibits cancer cell growth 3. Genome-wide association studies identified PRTFDC1 as a significant locus associated with post-traumatic stress disorder (PTSD) 5 and implicated it in Sjögren's syndrome-related brain structural changes 6. In HPRT-deficient mice, human PRTFDC1 expression exacerbates aggressive behavior, suggesting genetic modulation of neurological phenotypes 7.

Sources cited
1
PRTFDC1 has low catalytic efficiency (0.26% and 0.09% for hypoxanthine and guanine) compared to HPRT, contains glycine instead of catalytic aspartate, and does not contribute to nucleotide salvage
PMID: 21054786
2
PRTFDC1 is a distinct member of the HPRT gene family with different evolutionary rates, was recently inactivated in mice but remains functional in humans
PMID: 16928426
3
PRTFDC1 is frequently silenced by promoter hypermethylation in oral squamous-cell carcinomas, and its restoration inhibits cancer cell growth
PMID: 17599052
4
PRTFDC1 promoter is aberrantly methylated in ovarian cancer cell lines and primary tumors
PMID: 17303177
5
PRTFDC1 identified as a genome-wide significant PTSD locus in multi-ethnic GWAS of combat-exposed military personnel
PMID: 25456346
6
PRTFDC1 identified through transcriptome-wide association study in relation to Sjögren's syndrome and brain cortical structure changes
PMID: 40629343
7
PRTFDC1 is a genetic modifier of HPRT-deficiency; expression in HPRT-deficient mice increases aggression and amphetamine-induced stereotypy
PMID: 21818316
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.39Weak
post-traumatic stress disorderOpen Targets
0.33Weak
hypertensionOpen Targets
0.32Weak
preeclampsiaOpen Targets
0.26Weak
neurodegenerative diseaseOpen Targets
0.10Weak
open-angle glaucomaOpen Targets
0.07Suggestive
HypercholesterolemiaOpen Targets
0.03Suggestive
lung adenocarcinomaOpen Targets
0.03Suggestive
esophageal adenocarcinomaOpen Targets
0.03Suggestive
Testicular Germ Cell TumorOpen Targets
0.03Suggestive
cardiovascular diseaseOpen Targets
0.03Suggestive
response to antipsychotic drugOpen Targets
0.03Suggestive
gestational diabetesOpen Targets
0.03Suggestive
ovarian dysfunctionOpen Targets
0.02Suggestive
insomniaOpen Targets
0.02Suggestive
Abnormal nasolacrimal system morphologyOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
angina pectorisOpen Targets
0.02Suggestive
diabetic ketoacidosisOpen Targets
0.02Suggestive
oral squamous cell carcinomaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PNPProtein interaction99%ADSLProtein interaction94%ATP5F1AProtein interaction85%ATP5F1CProtein interaction85%MTAPProtein interaction84%RRM1Protein interaction84%
Tissue Expression6 tissues
Brain
100%
Ovary
67%
Heart
42%
Bone Marrow
13%
Lung
8%
Liver
5%
Gene Interaction Network
Click a node to explore
PRTFDC1PNPADSLATP5F1AATP5F1CMTAPRRM1
PROTEIN STRUCTURE
Preparing viewer…
PDB2JBH · 1.70 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.44LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.09 [0.84–1.44]
RankingsWhere PRTFDC1 stands among ~20K protein-coding genes
  • #11,589of 20,598
    Most Researched32
  • #14,750of 17,882
    Most Constrained (LOEUF)1.44
Genes detectedPRTFDC1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genomic predictors of combat stress vulnerability and resilience in U.S. Marines: A genome-wide association study across multiple ancestries implicates PRTFDC1 as a potential PTSD gene.
PMID: 25456346
Psychoneuroendocrinology · 2015
1.00
2
Identification of PRTFDC1 silencing and aberrant promoter methylation of GPR150, ITGA8 and HOXD11 in ovarian cancers.
PMID: 17303177
Life Sci · 2007
0.90
3
Structural and functional studies of the human phosphoribosyltransferase domain containing protein 1.
PMID: 21054786
FEBS J · 2010
0.80
4
Sjögren's syndrome is associated with a reduction in the surface area of the right caudal anterior cingulate gyrus.
PMID: 40629343
BMC Med · 2025
0.70
5
PRTFDC1 is a genetic modifier of HPRT-deficiency in the mouse.
PMID: 21818316
PLoS One · 2011
0.60