Product Details

Purity

Greater than 90% as determined by SDS-PAGE.

Target Names

PRPS1

Uniprot No.

P60891

Research Area

Cell Biology

Alternative Names

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)

Source

E.coli

Expression Region

2-318aa

Target Protein Sequence

PNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQETCVEIGESVRGEDVYIVQSGCGEINDNLMELLIMINACKIASASRVTAVIPCFPYARQDKKDKSRAPISAKLVANMLSVAGADHIITMDLHASQIQGFFDIPVDNLYAEPAVLKWIRENISEWRNCTIVSPDAGGAKRVTSIADRLNVDFALIHKERKKANEVDRMVLVGDVKDRVAILVDDMADTCGTICHAADKLLSAGATRVYAILTHGIFSGPAISRINNACFEAVVVTNTIPQEDKMKHCSKIQVIDISMILAEAIRRTHNGESVSYLFSHVPL
Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.

Mol. Weight

50.7kDa

Protein Length

Full Length of Mature Protein

Tag Info

N-terminal 6xHis-SUMO-tagged

Form

Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.

Buffer

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.

Reconstitution

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. Our default final concentration of glycerol is 50%. Customers could use it as reference.

Troubleshooting and FAQs

Protein FAQs

Storage Condition

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.

Shelf Life

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.

Lead Time

3-7 business days

Notes

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Datasheet & COA

Please contact us to get it.

Description

This Human PRPS1 recombinant protein was produced in E.coli, where the gene sequence encoding Human PRPS1 (2-318aa) was expressed with the N-terminal 6xHis-SUMO tag. The purity of this PRPS1 protein was greater than 90% by SDS-PAGE.
PRPS1 is a key enzyme in the biosynthesis of ribonucleotides (components of RNA and DNA). PRPP is the precursor required for the synthesis of nucleotides, which play various crucial biological roles in cells, including genetic information transfer and protein synthesis.
Mutations in the PRPS1 gene can lead to a genetic disorder known as PRPS superactivity syndrome (PRPS overactivity syndrome or PRS superactivity syndrome). This is a group of rare disorders characterized by multisystem symptoms, including neurological issues, abnormal purine metabolism, and intellectual developmental delay. The occurrence of these symptoms is associated with abnormal activity of the PRPS1 enzyme due to mutations in the PRPS1 gene.
As PRPS1 is a critical enzyme in the biosynthesis of ribonucleotides, it is considered a potential target for anticancer drugs. Some drugs aim to inhibit cancer cell growth and proliferation by disrupting the function of PRPS1, thereby interfering with nucleotide synthesis in these cells.

Target Background

Function

Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.

Gene References into Functions

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

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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

Code	CSB-EP018776HU
Abbreviation	Recombinant Human PRPS1 protein
MSDS	MSDS Datasheet
Size	$224
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Image	(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
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Recombinant Human Ribose-phosphate pyrophosphokinase 1 (PRPS1)

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