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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PPAT
phosphoribosyl pyrophosphate amidotransferase
Chromosome 4 · 4q12
NCBI Gene: 5471Ensembl: ENSG00000128059.9HGNC: HGNC:9238UniProt: A8K4H7
73PubMed Papers
20Diseases
3Drugs
0Pathogenic Variants
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingamidophosphoribosyltransferase activitypurine nucleotide biosynthetic processcytosolrheumatoid arthritisacute lymphoblastic leukemiaCrohn's diseaseulcerative colitis
✦AI Summary

PPAT (phosphoribosyl pyrophosphate amidotransferase) catalyzes the formation of phosphoribosylamine from PRPP and glutamine, serving as the rate-limiting enzyme in de novo purine biosynthesis (DNPB) 12. Operating in the cytosol, PPAT functions as part of the purinosome, a metabolic complex involved in efficient purine nucleotide generation 1. Beyond its catalytic role, PPAT serves a scaffolding function through protein-protein interactions; specifically, NUDT5 interaction with PPAT promotes PPAT oligomerization and suppresses its enzymatic activity during purine salvage, facilitating purinosome disassembly and balancing DNPB with salvage pathways 13. In disease contexts, PPAT upregulation drives aberrant purine metabolism in hepatoblastoma through β-catenin-dependent transcriptional activation, promoting cell proliferation and migration 2. PPAT mutations occur in microsatellite-unstable gastric and colorectal cancers, suggesting metabolic reprogramming contributions to oncogenesis 4. Additionally, PPAT emerges as a glutamine metabolism-related biomarker in diabetic foot ulcer pathogenesis 5. Disrupting NUDT5-PPAT interactions induces thiopurine drug resistance by permitting excessive DNPB despite purine salvage 1, highlighting PPAT's clinical relevance in cancer chemotherapy response and metabolic disease progression.

Sources cited
1
PPAT is the rate-limiting enzyme in DNPB; NUDT5 interaction with PPAT suppresses enzymatic activity and facilitates purinosome disassembly during purine salvage
PMID: 40236075
2
PPAT is upregulated in hepatoblastoma through β-catenin activation, driving DNPB and promoting cell proliferation and migration
PMID: 40097378
3
NUDT5 scaffolding interaction with PPAT represses purine de novo synthesis in response to purine abundance, independent of enzymatic activity
PMID: 41196952
4
PPAT identified as a differentially expressed glutamine metabolism gene in diabetic foot ulcer pathogenesis
PMID: 38287255
5
PPAT frameshift mutations occur exclusively in microsatellite-unstable gastric and colorectal cancers
PMID: 27468871
6
NUDT5-PPAT interaction suppresses DNPB during purine salvage; disrupting this interaction induces thiopurine drug resistance
PMID: 41196949
Disease Associationsⓘ20
rheumatoid arthritisOpen Targets
0.59Moderate
acute lymphoblastic leukemiaOpen Targets
0.59Moderate
Crohn's diseaseOpen Targets
0.58Moderate
ulcerative colitisOpen Targets
0.56Moderate
prostate cancerOpen Targets
0.43Moderate
prostate carcinomaOpen Targets
0.42Moderate
leukemiaOpen Targets
0.42Moderate
lymphomaOpen Targets
0.39Weak
neoplasmOpen Targets
0.38Weak
lupus nephritisOpen Targets
0.37Weak
lymphoid leukemiaOpen Targets
0.37Weak
immune system diseaseOpen Targets
0.37Weak
systemic lupus erythematosusOpen Targets
0.33Weak
neuromyelitis opticaOpen Targets
0.33Weak
Granulomatosis with PolyangiitisOpen Targets
0.32Weak
neurodegenerative diseaseOpen Targets
0.29Weak
oropharynx cancerOpen Targets
0.27Weak
ThrombocytopeniaOpen Targets
0.26Weak
encephalomyelitisOpen Targets
0.26Weak
Takayasu arteritisOpen Targets
0.26Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets3
AZATHIOPRINEApproved
Amidophosphoribosyltransferase inhibitor
rheumatoid arthritis
AZATHIOPRINE SODIUMApproved
Amidophosphoribosyltransferase inhibitor
MERCAPTOPURINEApproved
Amidophosphoribosyltransferase inhibitor
acute lymphoblastic leukemia
Related Genes
UMPSProtein interaction100%SHMT1Protein interaction100%MTHFD1Protein interaction100%SHMT2Protein interaction100%MTHFD1LProtein interaction99%MTHFD2Protein interaction99%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
89%
Ovary
53%
Liver
41%
Heart
26%
Lung
19%
Gene Interaction Network
Click a node to explore
PPATUMPSSHMT1MTHFD1SHMT2MTHFD1LMTHFD2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q06203
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.51Moderately Constrained
pLIⓘ
0.96Intolerant
Observed/Expected LoF0.34 [0.23–0.51]
RankingsWhere PPAT stands among ~20K protein-coding genes
  • #6,498of 20,598
    Most Researched73
  • #477of 1,025
    FDA-Approved Drug Targets3
  • #3,145of 17,882
    Most Constrained (LOEUF)0.51 · top quartile
Genes detectedPPAT
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
NUDT5 regulates purine metabolism and thiopurine sensitivity by interacting with PPAT.
PMID: 41196949
Science · 2025
1.00
2
A novel diabetic foot ulcer diagnostic model: identification and analysis of genes related to glutamine metabolism and immune infiltration.
PMID: 38287255
BMC Genomics · 2024
0.90
3
NUDT5 regulates purine metabolism and thiopurine sensitivity by interacting with PPAT.
PMID: 40236075
bioRxiv · 2025
0.80
4
Periprostatic adipose tissue (PPAT) supernatant from obese mice releases anticontractile substances and increases human prostate epithelial cell proliferation: the role of nitric oxide and adenosine.
PMID: 37492091
Front Pharmacol · 2023
0.70
5
Frameshift mutations of OGDH, PPAT and PCCA genes in gastric and colorectal cancers.
PMID: 27468871
Neoplasma · 2016
0.60