Recombinant Human Ribose-phosphate pyrophosphokinase 1 (PRPS1)

1. suggests that the four mutations might affect the PRPS1 protein function and stability of the structure PMID: 29047041
2. This report highlights the unexpected finding of retinal degeneration in females caused by missense variants in the X-linked gene PRPS1 and expands our understanding of the phenotypic outcome of specific variants. PMID: 28967191
3. ARTS binds directly to both XIAP and Bcl-2. ARTS functions as a distinct Bcl-2 antagonist by binding and leading to its degradation. PMID: 29020630
4. A novel PRPS1 mutation related to early-onset progressive nonsyndromic hearing loss. PMID: 27886419
5. High PRPS1 expression is associated with chemoresistance in breast cancer. PMID: 28177767
6. evaluation of current literature on PRPS1-related syndromes and summaries of potential therapies [review] PMID: 26089585
7. analysis of intrafamilial phenotypic variation associated with a single PRPS1 mutation in syndromic or nonsyndromic hearing impairment PMID: 25785835
8. CRC cells that overexpressed miR124 or with knockdown of RPIA or PRPS1 had reduced DNA synthesis and proliferation, whereas cells incubated with an inhibitor of miR124 had significantly increased DNA synthesis and proliferation and formed more colonies. PMID: 26248089
9. Study identified the critical region in the ARTS promoter and demonstrated that the Sp1 transcription factor could regulate the activity of the ARTS promoter through multiple Sp1 binding sites. PMID: 25790304
10. Females with a missense mutation in PRPS1, exhibit neuropathy, hearing loss and retinopathy. PMID: 25491489
11. the de novo purine synthesis inhibitor lometrexol effectively abrogated PRPS1 mutant-driven drug resistance. PMID: 25962120
12. The expression of different genes encoding subunits of PRPS enzyme is affected by hypoxia in tumor glioma cells, but the effect of hypoxia is modified by suppression of endoplasmic reticulum stress signaling enzyme ERN1. PMID: 25816608
13. respective phenotypic presentation seems to be determined by the exact PRPS1 mutation and the residual enzyme activity, the latter being largely influenced by the degree of skewed X-inactivation PMID: 24528855
14. The crystal structure of the ADP-binding pocket of the PRPS1 D52H-mutant and evidence of reduced inhibitor sensitivity. PMID: 23509005
15. Review: discuss role of PRPS1 mutations in hearing loss. PMID: 23190330
16. missense mutations in PRPS1 can cause a continuous spectrum of features ranging from progressive non-syndromic postlingual hearing impairment to uric acid overproduction, and recurrent infections depending on the functional sites that are affected PMID: 22246954
17. Translocation of ARTS initiates a first wave of caspase activation leading to the subsequent release of additional mitochondrial factors, including cytochrome C and SMAC/Diablo. PMID: 21869827
18. Three HPRT1 mutations in Lesch-Nyhan families were identified but no mutation was identified in any patient in the analysis of PRPS1. PMID: 22132986
19. Refinements were made on the DFN2 locus on the X chromosome. PMID: 15240907
20. In four hyperuricemic patients with mild neurological abnormality, molecular analysis of PRPS1 was performed , but no mutations in PRPP synthetase were found. PMID: 20544509
21. PRPS1 mutations; neurological phenotype in all four PRPS1-related disorders seems to result primarily from reduced levels of GTP & possibly other purine nucleotides including ATP, suggesting these disorders belong to the same disease spectrum [review] PMID: 20380929
22. PRPS1 loss of function mutations cause a type of nonsyndromic X-linked sensorineural deafness, DFN2 PMID: 20021999
23. p300 may play a role in the regulation of DNA synthesis through interactions with PRS1 PMID: 15943588
24. PRS1 belongs to space group R3, with unit-cell parameters a=b=168.846, c=61.857 A, assuming two molecules in asymmetric unit & volume-to-weight ratio of 2.4 angstroms3 Da(-1), which was consistent with result calculated from self-rotation function. PMID: 16682768
25. new SO4(2-)-binding site is a second allosteric site to regulate the enzymatic activity PMID: 16939420
26. Linkage analysis in a Dutch family and an Australian family suggested that the candidate gene for Arts syndrome is PRPS1, which maps to Xq22.1-q24. PMID: 17701896
27. Missense mutations were identified at conserved amino acids in the PRPS1 gene on Xq22.3 in two families with a syndromic form of inherited peripheral neuropathy, one of Asian and one of European descent. PMID: 17701900
28. increased activity of this gene leads to gout PMID: 18409517
29. The N114S mutation alters the secondary structure of PRS1;the structural alteration caused by the N114S mutation influences the conformation of the ATP-binding loop and leads to the loss of ATP-induced aggregation. PMID: 19161981

显示更多

收起更多

HGNC: 9462

OMIM: 300661

KEGG: hsa:5631

STRING: 9606.ENSP00000361512

UniGene: Hs.56