Recombinant Human Ribose-Phosphate Pyrophosphokinase 1 (PRPS1) Protein (His-SUMO)

Name: Recombinant Human Ribose-Phosphate Pyrophosphokinase 1 (PRPS1) Protein (His-SUMO)
Brand: Beta LifeScience
SKU: BLC-10774P
Availability: InStock

Greater than 90% as determined by SDS-PAGE.

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Product Overview

Description	Recombinant Human Ribose-Phosphate Pyrophosphokinase 1 (PRPS1) Protein (His-SUMO) is produced by our E.coli expression system. This is a full length protein.
Purity	Greater than 90% as determined by SDS-PAGE.
Uniprotkb	P60891
Target Symbol	PRPS1
Synonyms	ARTS; CMTX5; Deafness 2 perceptive congenital; Deafness X linked 2 perceptive congenital; DFN2; DFNX1; EC 2.7.6.1; KIAA0967; Phosphoribosyl pyrophosphate synthase I; Phosphoribosyl pyrophosphate synthetase I; PPRibP; Prps1; PRPS1_HUMAN; PRS I ; PRS-I; PRSI; Ribose phosphate pyrophosphokinase I ; Ribose-phosphate pyrophosphokinase 1
Species	Homo sapiens (Human)
Expression System	E.coli
Tag	N-6His-SUMO
Target Protein Sequence	PNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQETCVEIGESVRGEDVYIVQSGCGEINDNLMELLIMINACKIASASRVTAVIPCFPYARQDKKDKSRAPISAKLVANMLSVAGADHIITMDLHASQIQGFFDIPVDNLYAEPAVLKWIRENISEWRNCTIVSPDAGGAKRVTSIADRLNVDFALIHKERKKANEVDRMVLVGDVKDRVAILVDDMADTCGTICHAADKLLSAGATRVYAILTHGIFSGPAISRINNACFEAVVVTNTIPQEDKMKHCSKIQVIDISMILAEAIRRTHNGESVSYLFSHVPL
Expression Range	2-318aa
Protein Length	Full Length of Mature Protein
Mol. Weight	50.7kDa
Research Area	Cell Biology
Form	Liquid or Lyophilized powder
Buffer	Liquid form: default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution	Briefly centrifuged the vial prior to opening to bring the contents to the bottom. Reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL. It is recommended to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. The default final concentration of glycerol is 50%.
Storage	1. Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. 2. Avoid repeated freeze-thaw cycles. 3. Store working aliquots at 4°C for up to one week. 4. In general, protein in liquid form is stable for up to 6 months at -20°C/-80°C. Protein in lyophilized powder form is stable for up to 12 months at -20°C/-80°C.
Notes	Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Target Details

Target Function	Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.
Protein Families	Ribose-phosphate pyrophosphokinase family
Database References	HGNC: 9462 OMIM: 300661 KEGG: hsa:5631 STRING: 9606.ENSP00000361512 UniGene: Hs.56
Associated Diseases	Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity); Charcot-Marie-Tooth disease, X-linked recessive, 5 (CMTX5); ARTS syndrome (ARTS); Deafness, X-linked, 1 (DFNX1)

Gene Functions References

suggests that the four mutations might affect the PRPS1 protein function and stability of the structure PMID: 29047041
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
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
A novel PRPS1 mutation related to early-onset progressive nonsyndromic hearing loss. PMID: 27886419
High PRPS1 expression is associated with chemoresistance in breast cancer. PMID: 28177767
evaluation of current literature on PRPS1-related syndromes and summaries of potential therapies [review] PMID: 26089585
analysis of intrafamilial phenotypic variation associated with a single PRPS1 mutation in syndromic or nonsyndromic hearing impairment PMID: 25785835
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
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
Females with a missense mutation in PRPS1, exhibit neuropathy, hearing loss and retinopathy. PMID: 25491489
the de novo purine synthesis inhibitor lometrexol effectively abrogated PRPS1 mutant-driven drug resistance. PMID: 25962120
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
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
The crystal structure of the ADP-binding pocket of the PRPS1 D52H-mutant and evidence of reduced inhibitor sensitivity. PMID: 23509005
Review: discuss role of PRPS1 mutations in hearing loss. PMID: 23190330
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
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
Three HPRT1 mutations in Lesch-Nyhan families were identified but no mutation was identified in any patient in the analysis of PRPS1. PMID: 22132986
Refinements were made on the DFN2 locus on the X chromosome. PMID: 15240907
In four hyperuricemic patients with mild neurological abnormality, molecular analysis of PRPS1 was performed , but no mutations in PRPP synthetase were found. PMID: 20544509
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
PRPS1 loss of function mutations cause a type of nonsyndromic X-linked sensorineural deafness, DFN2 PMID: 20021999
p300 may play a role in the regulation of DNA synthesis through interactions with PRS1 PMID: 15943588
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
new SO4(2-)-binding site is a second allosteric site to regulate the enzymatic activity PMID: 16939420
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
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
increased activity of this gene leads to gout PMID: 18409517
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

FAQs

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Proteins are sensitive to heat, and freeze-drying can preserve the activity of the majority of proteins. It improves protein stability, extends storage time, and reduces shipping costs. However, freeze-drying can also lead to the loss of the active portion of the protein and cause aggregation and denaturation issues. Nonetheless, these adverse effects can be minimized by incorporating protective agents such as stabilizers, additives, and excipients, and by carefully controlling various lyophilization conditions.

Commonly used protectant include saccharides, polyols, polymers, surfactants, some proteins and amino acids etc. We usually add 8% (mass ratio by volume) of trehalose and mannitol as lyoprotectant. Trehalose can significantly prevent the alter of the protein secondary structure, the extension and aggregation of proteins during freeze-drying process; mannitol is also a universal applied protectant and fillers, which can reduce the aggregation of certain proteins after lyophilization.

Our protein products do not contain carrier protein or other additives (such as bovine serum albumin (BSA), human serum albumin (HSA) and sucrose, etc., and when lyophilized with the solution with the lowest salt content, they often cannot form A white grid structure, but a small amount of protein is deposited in the tube during the freeze-drying process, forming a thin or invisible transparent protein layer.

Reminder: Before opening the tube cap, we recommend that you quickly centrifuge for 20-30 seconds in a small centrifuge, so that the protein attached to the tube cap or the tube wall can be aggregated at the bottom of the tube. Our quality control procedures ensure that each tube contains the correct amount of protein, and although sometimes you can't see the protein powder, the amount of protein in the tube is still very precise.

To learn more about how to properly dissolve the lyophilized recombinant protein, please visit Lyophilization FAQs.