Property Summary

NCBI Gene PubMed Count 51
Grant Count 2
R01 Count 2
Funding $143,734
PubMed Score 64.46
PubTator Score 72.02

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession P60891 B1ALA8 B2R6T7 B4DNL6 D3DUX6 P09329
Symbols ARTS
DFN2
PRSI
CMTX5
DFNX1
PRS-I
PPRibP

Gene

PANTHER Protein Class (3)

 Grant Application (2)

PDB

2H06   2H07   2H08   2HCR   3EFH   3S5J   4F8E   4LYG   4LZN   4LZO   4M0P   4M0U  

Gene RIF (24)

PMID Text
26248089 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.
26089585 evaluation of current literature on PRPS1-related syndromes and summaries of potential therapies [review]
25962120 the de novo purine synthesis inhibitor lometrexol effectively abrogated PRPS1 mutant-driven drug resistance.
25816608 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.
25790304 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.
25785835 analysis of intrafamilial phenotypic variation associated with a single PRPS1 mutation in syndromic or nonsyndromic hearing impairment
25491489 Females with a missense mutation in PRPS1, exhibit neuropathy, hearing loss and retinopathy.
24528855 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
23509005 The crystal structure of the ADP-binding pocket of the PRPS1 D52H-mutant and evidence of reduced inhibitor sensitivity.
23190330 Review: discuss role of PRPS1 mutations in hearing loss.
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AA Sequence

MPNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQETCVEIGESVRGEDVYIVQSGCGEINDNLMEL      1 - 70
LIMINACKIASASRVTAVIPCFPYARQDKKDKSRAPISAKLVANMLSVAGADHIITMDLHASQIQGFFDI     71 - 140
PVDNLYAEPAVLKWIRENISEWRNCTIVSPDAGGAKRVTSIADRLNVDFALIHKERKKANEVDRMVLVGD    141 - 210
VKDRVAILVDDMADTCGTICHAADKLLSAGATRVYAILTHGIFSGPAISRINNACFEAVVVTNTIPQEDK    211 - 280
MKHCSKIQVIDISMILAEAIRRTHNGESVSYLFSHVPL                                    281 - 318
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Text Mined References (49)

PMID Year Title
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
26248089 2015 MicroRNA-124 reduces the pentose phosphate pathway and proliferation by targeting PRPS1 and RPIA mRNAs in human colorectal cancer cells.
26089585 2015 Association of PRPS1 Mutations with Disease Phenotypes.
25962120 2015 Negative feedback-defective PRPS1 mutants drive thiopurine resistance in relapsed childhood ALL.
25816608 Expression of phosphoribosyl pyrophosphate synthetase genes in U87 glioma cells with ERN1 knockdown: effect of hypoxia and endoplasmic reticulum stress.
25790304 2015 Specificity protein 1 transcription factor regulates human ARTS promoter activity through multiple binding sites.
25785835 2015 Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.
25491489 2014 Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
25416956 2014 A proteome-scale map of the human interactome network.
24528855 2014 X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.
More...