Recombinant Human PRPS1 His-tag Protein, CF

R&D Systems, part of Bio-Techne | Catalog # 11075-PS

R&D Systems, part of Bio-Techne
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11075-PS-050
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Key Product Details

Source

E. coli

Accession #

P60891.2

Conjugate

Unconjugated

Applications

Enzyme Activity

View all PRPS1 Proteins and Enzymes »

Product Specifications

Source

E. coli-derived human PRPS1 protein
Pro2-Leu318 with a C-terminal 6-His tag

Purity

>95%, by SDS-PAGE visualized with Silver Staining and quantitative densitometry by Coomassie® Blue Staining.

Endotoxin Level

<0.10 EU per 1 μg of the protein by the LAL method.

N-terminal Sequence Analysis

Pro2

Predicted Molecular Mass

36 kDa

SDS-PAGE

36 kDa

Activity

Measured by its ability to convert D-ribose 5-phosphate to 5-phospho-alpha-D-ribose.
The specific activity is >25 pmol/min/μg, as measured under the described conditions.

Scientific Data Images for Recombinant Human PRPS1 His-tag Protein, CF

Recombinant Human PRPS1 His-tag Protein SDS-PAGE.

2 μg/lane of Recombinant Human PRPS1 His-tag Protein (Catalog # 11075-PS) was resolved with SDS-PAGE under reducing (R) and non-reducing (NR) conditions and visualized by Coomassie® Blue staining, showing bands at 36 kDa.

Formulation, Preparation and Storage

11075-PS
Formulation Supplied as a 0.2 μm filtered solution in Tris, NaCl, Glycerol and TCEP.
Shipping The product is shipped with polar packs. Upon receipt, store it immediately at the temperature recommended below.
Stability & Storage Use a manual defrost freezer and avoid repeated freeze-thaw cycles.
  • 6 months from date of receipt, -20 to -70 °C as supplied.
  • 3 months, -20 to -70 °C under sterile conditions after opening.

Background: PRPS1

Ribose-phosphate pyrophosphokinase 1 (PRPS1), also known as phosphoribosyl pyrophosphate synthase I, is a highly conserved, ubiquitously expressed enzyme from the ribose-phosphate pyrophosphokinase family that catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) from adenosine triphosphate (ATP) and ribose-5-phosphate (R5P). It is a crucial enzyme in the de novo synthesis and salvage of purines and biosynthesis of pyrimidine and pyrimidine nucleotides (1, 2). PRPS1 is activated by inorganic phosphate and magnesium and can be allosterically inhibited by ADP and purines (2, 3). Human PRPS1 is a 318 amino acid monomer that forms an active hexamer consisting of three homodimers arranged in a propellar-like shape (4). Each homodimer has an active site that binds both ATP and R5P as well as an allosteric inhibitor site. It has been well-established that many different mutations in the PRPS1 gene can lead to disease. Mutations can result in a gain of function with increased expression that leads to excess purine production present in PRS-I superactivity characterized by gout, hearing loss, hypotonia, and ataxia (2, 5). Alternatively, mutations can result in loss of function with decreased expression present in nonsyndromic sensorineural deafness (DFN-2), Charcot-Marie-Tooth disease-5 (CMTX5), and Arts syndrome characterized by sensorineural hearing loss, optic atrophy, ataxia, neuropathy motor development delay and intellectual disability (2,5,6). Mis-regulation of expression and mutation of PRPS1 expression has also been shown to promote proliferation in cancers including neuroblastoma (7), squamous cell carcinoma (8), and acute lymphoblastic leukaemia (9). Additionally, PRPS1 has been shown to be regulated through its phosphorylation state to play a role in DNA repair in the innate immune response (10) and promote tumorigenesis (11).

References

  1. Taira, M. et al. (1989) Biochim. Biophys. Acta. 1007:203.
  2. Mittal, R. et al. (2015) Dis. Markers. 2015:127013.
  3. Nosal, J.M. et al. (1993) J. Biol. Chem. 268:10168.
  4. Sheng, L.I. et al. (2007) Biochem. J. 401:39.
  5. De Brouwer, A.P. et al. (2010) Am. J. Hum. Genet. 86:506.
  6. Mercati, O. et al. (2020) Eur. J. Med. Genet. 63:104033.
  7. Li, J. et al. (2019) Cells. 8:955.
  8. Yang, J. et al. (2021) Arab. J. Gastroenterol. 22:40.
  9. Somazu, S. et al. (2021) J. Cell. Mol. Med. 25:10521.
  10. Liu, R. et al. (2021) Cell Metab. 33:2076.
  11. Jing, X. et al. (2019) Cancer Res. 79:4650.

Long Name

Phosphoribosyl Pyrophosphate Synthetase 1

Alternate Names

CMTX5, DFN2, DFNX1, PPRibP, PRS I, PRS-I, PRSI

Entrez Gene IDs

5631 (Human)

Gene Symbol

PRPS1

UniProt

P60891.2

Additional PRPS1 Products

Product Documents for Recombinant Human PRPS1 His-tag Protein, CF

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Product Specific Notices for Recombinant Human PRPS1 His-tag Protein, CF

For research use only

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