PRPS1 Antibody

Code CSB-PA018776GA01HU
Size $600
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Product Details

Uniprot No.
Target Names
PRPS1
Alternative Names
ARTS antibody; CMTX5 antibody; Deafness 2 perceptive congenital antibody; Deafness X linked 2 perceptive congenital antibody; DFN2 antibody; DFNX1 antibody; EC 2.7.6.1 antibody; KIAA0967 antibody; Phosphoribosyl pyrophosphate synthase I antibody; Phosphoribosyl pyrophosphate synthetase I antibody; PPRibP antibody; Prps1 antibody; PRPS1_HUMAN antibody; PRS I antibody; PRS-I antibody; PRSI antibody; Ribose phosphate pyrophosphokinase I antibody; Ribose-phosphate pyrophosphokinase 1 antibody
Raised in
Rabbit
Species Reactivity
Human,Mouse,Rat
Immunogen
Human PRPS1
Immunogen Species
Homo sapiens (Human)
Isotype
IgG
Purification Method
Antigen Affinity purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
Tested Applications
ELISA,WB,IHC,IF
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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Target Background

Function
Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.
Gene References into Functions
  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

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Involvement in disease
Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity); Charcot-Marie-Tooth disease, X-linked recessive, 5 (CMTX5); ARTS syndrome (ARTS); Deafness, X-linked, 1 (DFNX1)
Protein Families
Ribose-phosphate pyrophosphokinase family
Database Links

HGNC: 9462

OMIM: 300661

KEGG: hsa:5631

STRING: 9606.ENSP00000361512

UniGene: Hs.56

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