Literature summary extracted from
Delos Santos, K.; Kim, M.; Yergeau, C.; Jean, S.; Moon, N.S.
Pleiotropic role of Drosophila phosphoribosyl pyrophosphate synthetase in autophagy and lysosome homeostasis (2019), PLoS Genet., 15, e1008376 .
Application
EC Number |
Application |
Comment |
Organism |
---|
2.7.6.1 |
medicine |
mutations Q165P and R228W mimick missense mutations identified in neurological disorders such as Arts syndrome. Mutant flies are able to develop normally, but have a shortened lifespan and locomotive defects. Patient-derived PRPS mutations result in profound defects in lipolysis, macroautophagy, and lysosome function. The nervous system of these mutant flies is affected by these defects |
Drosophila melanogaster |
Protein Variants
EC Number |
Protein Variants |
Comment |
Organism |
---|
2.7.6.1 |
Q165P |
mimicks missense mutations identified in human neurological disorders such as Arts syndrome |
Drosophila melanogaster |
2.7.6.1 |
R228W |
mimicks missense mutations identified in human neurological disorders such as Arts syndrome |
Drosophila melanogaster |
Localization
EC Number |
Localization |
Comment |
Organism |
GeneOntology No. |
Textmining |
---|
Organism
EC Number |
Organism |
UniProt |
Comment |
Textmining |
---|
2.7.6.1 |
Drosophila melanogaster |
Q9VT33 |
- |
- |
General Information
EC Number |
General Information |
Comment |
Organism |
---|
2.7.6.1 |
physiological function |
PRPS is a direct target of retinoblastoma RB/E2F transcription factor in Drosophila melanogaster |
Drosophila melanogaster |