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GeneE
4 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PRPS1L1
phosphoribosyl pyrophosphate synthetase 1 like 1
Chromosome 7 Β· 7p21.1
NCBI Gene: 221823Ensembl: ENSG00000229937.9HGNC: HGNC:9463UniProt: P21108
28PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Kinase
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
ATP bindingprotein homodimerization activitycytoplasmribose phosphate diphosphokinase complexalcohol drinkingneurodegenerative diseasediabetes mellitusosteoarthritis, hip
✦AI Summary

PRPS1L1 is an autosomal phosphoribosyl pyrophosphate synthetase-related gene located on chromosome 7, functioning as a homolog of the X-linked PRPS1 gene 1. Like PRPS1, PRPS1L1 catalyzes synthesis of phosphoribosylpyrophosphate (PRPP), an essential substrate for nucleotide biosynthesis 1. The gene exhibits ribose phosphate diphosphokinase activity and participates in purine nucleotide biosynthetic pathways and ATP binding through protein homodimerization [GO annotations]. Regarding disease relevance, PRPS1L1 was identified as a candidate gene in the DFNB90 locus associated with autosomal recessive nonsyndromic hearing impairment, though no causal variants were identified upon sequencing 2. Additionally, PRPS1L1 deletion has been documented in complex chr7 rearrangements involving chromosome 7.1, where it may contribute to intellectual disability phenotypes 3. Clinically, PRPS1L1 emerged as a predictive protein in high-grade serous ovarian cancer prognosis, functioning as part of a three-protein panel (EIF2B1, PRPS1L1, MAPK13) with strong predictive performance for overall and progression-free survival 4.

Sources cited
1
PRPS1L1 is an autosomal PRPS1-related gene located on chromosome 7; encodes phosphoribosylpyrophosphate synthetase catalyzing PRPP synthesis
PMID: 2536962
2
PRPS1L1 was sequenced as a candidate gene in the DFNB90 hearing impairment locus on chromosome 7p22.1-p15.3, though no causal variants were identified
PMID: 21734401
3
PRPS1L1 deletion at 7p21.1 occurs in complex chromosomal rearrangements and may be associated with intellectual disability
PMID: 22628249
4
PRPS1L1 is a predictive protein for high-grade serous ovarian cancer survival outcomes as part of a three-protein prognostic panel
PMID: 28852147
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
alcohol drinkingOpen Targets
0.34Weak
neurodegenerative diseaseOpen Targets
0.29Weak
diabetes mellitusOpen Targets
0.28Weak
osteoarthritis, hipOpen Targets
0.28Weak
acute tonsillitisOpen Targets
0.28Weak
smoking initiationOpen Targets
0.26Weak
Alzheimer diseaseOpen Targets
0.25Weak
lysosomal storage diseaseOpen Targets
0.25Weak
multiple sclerosisOpen Targets
0.25Weak
Parkinson diseaseOpen Targets
0.25Weak
ThrombocytopeniaOpen Targets
0.22Weak
total hip arthroplastyOpen Targets
0.21Weak
type 2 diabetes mellitusOpen Targets
0.18Weak
head and neck malignant neoplasiaOpen Targets
0.18Weak
poisoningOpen Targets
0.16Weak
response to antibioticOpen Targets
0.16Weak
neuroinflammatory disorderOpen Targets
0.14Weak
tympanic membrane perforationOpen Targets
0.06Suggestive
basal cell carcinomaOpen Targets
0.05Suggestive
keratinocyte carcinomaOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
MSMBProtein interaction97%SMPXProtein interaction97%PPATProtein interaction97%UMPSProtein interaction97%NT5C3AProtein interaction97%TKTProtein interaction95%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
0%
Brain
0%
Ovary
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
PRPS1L1MSMBSMPXPPATUMPSNT5C3ATKT
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P21108
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.17LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.72 [0.46–1.17]
RankingsWhere PRPS1L1 stands among ~20K protein-coding genes
  • #12,421of 20,598
    Most Researched28
  • #12,236of 17,882
    Most Constrained (LOEUF)1.17
Genes detectedPRPS1L1
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.
PMID: 21734401
Hum Hered Β· 2011
1.00
2
Proteomics analysis to reveal biological pathways and predictive proteins in the survival of high-grade serous ovarian cancer.
PMID: 28852147
Sci Rep Β· 2017
0.75
3
Localization of human phosphoribosylpyrophosphate synthetase subunit I and II genes (PRPS1 and PRPS2) to different regions of the X chromosome and assignment of two PRPS1-related genes to autosomes.
PMID: 2536962
Somat Cell Mol Genet Β· 1989
0.50
4
Saethre-Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7.
PMID: 22628249
Am J Med Genet A Β· 2012
0.25