PRPS1 active protein

PRPS1, human recombinant

Cat. Num. AAA845354

• Gene Names: PRPS1; ARTS; DFN2; PRSI; CMTX5; DFNX1; PRS-I; PPRibP
• Applications: SDS-Page
• Purity: >=90%
• Synonyms: PRPS1; human recombinant; Ribose-phosphate pyrophosphokinase 1; ARTS; CMTX5; PPRibP; PRSI; DFN2; DFNX1; PRPS1 active protein

• Host: E Coli
• Purity/Purification: >=90%
• Form/Format: 1 mg/ml solution in 20 mM Tris-HCl buffer (pH 8.0) containing 20% glycerol, 1 mM DTT and 0.1 M NaCl; Appearance: Liquid
• Concentration: 1 mg/ml (varies by lot)
• Sequence: MGSSHHHHHH SSGLVPRGSH MPNIKIFSGS SHQDLSQKIA DRLGLELGKV VTKKFSNQET CVEIGESVRG EDVYIVQSGC GEINDNLMEL LIMINACKIA SASRVTAVIP CFPYARQDKK DKSRAPISAK LVANMLSVAG ADHIITMDLH ASQIQGFFDI PVDNLYAEPA VLKWIRENIS EWRNCTIVSP DAGGAKRVTS IADRLNVDFA LIHKERKKAN EVDRMVLVGD VKDRVAILVD DMADTCGTIC HAADKLLSAG ATRVYAILTH GIFSGPAISR INNACFEAVV VTNTIPQEDK MKHCSKIQVI DISMILAEAI RRTHNGESVS YLFSHVPL
• Sequence Length: 114

• Applicable Applications for PRPS1 active protein: SDS-PAGE
• Biological Activity: Specific activity: > 1 Units/ml. One unit will catalyze the formation of 1.0 umole of AMP from ATP and ribose-5-phosphate per minute at pH 7.6 at 37 degree C.
• Results: Specific activity: > 1 Units/ml
• Unit Definition: One unit will catalyze the formation of 1.0 umole of AMP from ATP and ribose-5-phosphate per minute at pH 7.6 at 37 degree C.
• Handling: Centrifuge the vial prior to opening.
• Preparation and Storage: At -20 degree C; Shelf Life: 12 months

Testing Data

Related Product Information for PRPS1 active protein

Background: PRPS1, also known as ribose-phosphate pyrophosphokinase 1, is ubiquitously expressed in human tissues. This enzyme catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Recombinant human PRPS1 protein, fused to His-tag at N-terminus, was expressed in E.coli and purified by using conventional chromatography techniques.

Product Categories/Family for PRPS1 active protein

Proteins and Enzymes; Proteins and Enzymes (A-Z)

NCBI and Uniprot Product Information

• NCBI GI #: 324711015
• NCBI GeneID: 5631
• NCBI Accession #: NP_001191331.1
• NCBI GenBank Nucleotide #: NM_001204402.1
• UniProt Accession #: P60891; P09329; B1ALA8; B2R6T7; B4DNL6; D3DUX6
• Molecular Weight: 36.9 kDa (338 aa, 1-318 aa + His Tag)
• NCBI Official Full Name: ribose-phosphate pyrophosphokinase 1 isoform 2
• NCBI Official Synonym Full Names: phosphoribosyl pyrophosphate synthetase 1
• NCBI Official Symbol: PRPS1
• NCBI Official Synonym Symbols: ARTS; DFN2; PRSI; CMTX5; DFNX1; PRS-I; PPRibP
• NCBI Protein Information: ribose-phosphate pyrophosphokinase 1
• UniProt Protein Name: Ribose-phosphate pyrophosphokinase 1
• UniProt Gene Name: PRPS1
• UniProt Synonym Gene Names: PRS-I
• UniProt Entry Name: PRPS1_HUMAN

NCBI Description

This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]

Uniprot Description

PRPS1: Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis. Defects in PRPS1 are the cause of phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity); also known as PRPS-related gout. It is a familial disorder characterized by excessive purine production, gout and uric acid urolithiasis. Defects in PRPS1 are the cause of Charcot-Marie-Tooth disease X-linked recessive type 5 (CMTX5); also known as optic atrophy-polyneuropathy-deafness or Rosenberg-Chutorian syndrome. CMTX5 is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. Defects in PRPS1 are the cause of ARTS syndrome (ARTS); also known as fatal ataxia X-linked with deafness and loss of vision. ARTS is a disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. Susceptibility to infections, especially of the upper respiratory tract, can result in early death. Defects in PRPS1 are the cause of deafness X-linked type 1 (DFNX1); also known as congenital sensorineural deafness X-linked 2 (DFN2). It is a form of deafness characterized by progressive, severe-to-profound sensorineural hearing loss in males. Females manifest mild to moderate hearing loss. Belongs to the ribose-phosphate pyrophosphokinase family.

Protein type: Nucleotide Metabolism - purine; Kinase, other; EC 2.7.6.1; Carbohydrate Metabolism - pentose phosphate pathway

Chromosomal Location of Human Ortholog: Xq22.3

Cellular Component: cytosol

Molecular Function: ribose phosphate diphosphokinase activity; protein homodimerization activity; magnesium ion binding; kinase activity; ATP binding

Biological Process: nervous system development; hypoxanthine biosynthetic process; carbohydrate metabolic process; ribonucleoside monophosphate biosynthetic process; 5-phosphoribose 1-diphosphate biosynthetic process; pathogenesis; purine nucleotide biosynthetic process; phosphorylation; purine base metabolic process; pyrimidine nucleotide biosynthetic process

Disease: Charcot-marie-tooth Disease, X-linked Recessive, 5; Phosphoribosylpyrophosphate Synthetase Superactivity; Arts Syndrome