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PRPS1 phosphoribosyl pyrophosphate synthetase 1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001204402 Homo sapiens phosphoribosyl pyrophosphate synthetase 1 (PRPS1), transcript variant 2, mRNA. GenEZ ORF Cloning In-stock $248.00 $199.00 10
NM_002764 Homo sapiens phosphoribosyl pyrophosphate synthetase 1 (PRPS1), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $418.00 $369.00 10

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Gene Symbol PRPS1
Entrez Gene ID 5631
Full Name phosphoribosyl pyrophosphate synthetase 1
Synonyms ARTS, CMTX5, DFN2, DFNX1, PPRibP, PRS-I, PRSI
General protein information
Preferred Names
ribose-phosphate pyrophosphokinase 1
Names
ribose-phosphate pyrophosphokinase 1
deafness 2, perceptive, congenital
ribose-phosphate diphosphokinase 1
phosphoribosyl pyrophosphate synthase I
deafness, X-linked 2, perceptive, congenital
dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1)
NP_001191331.1
NP_002755.1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xq22.3

Summary 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].
Disorder

MIM: 311850

Gout, PRPS-related, 300661 (3); Phosphoribosylpyrophosphate

mRNA Protein Product Sequence Price Select
NM_001204402, 324711014 NP_001191331, 324711015 ribose-phosphate pyrophosphokinase 1 isoform 2 ORF Sequence $99.00
NM_002764, 164663865 NP_002755, 4506127 ribose-phosphate pyrophosphokinase 1 isoform 1 ORF Sequence $269.00
KEGG
hsa00030Pentose phosphate pathway
hsa00230Purine metabolism
hsa_M00005PRPP biosynthesis, ribose 5P => PRPP
hsa01230Biosynthesis of amino acids
hsa01200Carbon metabolism
WikiPathways
WP404Nucleotide Metabolism
Reactome
REACT_474Metabolism of carbohydrates
REACT_8505-Phosphoribose 1-diphosphate biosynthesis
REACT_111217Metabolism
REACT_116125Disease
REACT_200783Myoclonic epilepsy of Lafora
REACT_200833Glycogen storage diseases
Homo sapiens (human)PRPS1NP_002755.1
Pan troglodytes (chimpanzee)PRPS1XP_001144504.1
Macaca mulatta (Rhesus monkey)PRPS1XP_001095604.1
Canis lupus familiaris (dog)PRPS1XP_005641702.1
Bos taurus (cattle)PRPS1NP_001039654.1
Mus musculus (house mouse)Prps1NP_067438.1
Rattus norvegicus (Norway rat)Prps1NP_058939.1
Gallus gallus (chicken)PRPS1XP_004940671.1
Danio rerio (zebrafish)prps1bNP_001070036.1
Drosophila melanogaster (fruit fly)CG6767NP_729528.2
Arabidopsis thaliana (thale cress)AT2G35390NP_850244.1
Arabidopsis thaliana (thale cress)PRS2NP_174516.1
Arabidopsis thaliana (thale cress)AT2G44530NP_181981.2
Process
IDNameEvidence
GO:0005975carbohydrate metabolic processTAS
GO:00060155-phosphoribose 1-diphosphate biosynthetic processIEA
GO:00060155-phosphoribose 1-diphosphate biosynthetic processTAS
GO:0006144purine nucleobase metabolic processIMP
GO:0006164purine nucleotide biosynthetic processIMP
GO:0006167AMP biosynthetic processIEA
GO:0006221pyrimidine nucleotide biosynthetic processNAS
GO:0007399nervous system developmentIMP
GO:0008219cell deathIEA
GO:0016310phosphorylationIEA
GO:0031100organ regenerationIEA
GO:0034418urate biosynthetic processIMP
GO:0044281small molecule metabolic processTAS
GO:0046101hypoxanthine biosynthetic processIMP
Component
IDNameEvidence
GO:0002189ribose phosphate diphosphokinase complexIEA
GO:0005829cytosolTAS
Function
IDNameEvidence
GO:0000287magnesium ion bindingIEA
GO:0004749ribose phosphate diphosphokinase activityEXP
GO:0004749ribose phosphate diphosphokinase activityIDA
GO:0004749ribose phosphate diphosphokinase activityIMP
GO:0005524ATP bindingIDA
GO:0016208AMP bindingIEA
GO:0016301kinase activityIEA
GO:0019003GDP bindingIEA
GO:0030246carbohydrate bindingIEA
GO:0042803protein homodimerization activityIPI
GO:0043531ADP bindingIEA
GeneCards PRPS1
PDB 2H08, 2H07, 3EFH, 2HCR, 2H06, 3S5J, 4F8E
UniProt B7ZB02, P60891
Vega OTTHUMG00000022167
MIM 311850
Ensembl ENSG00000147224
HGNC 9462
HPRD 02413

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the PRPS1 gene?

The PRPS1 gene provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1, or PRPP synthetase 1. This enzyme helps produce a molecule called phosphoribosyl pyrophosphate (PRPP). PRPP is involved in making purine and pyrimidine nucleotides. These nucleotides are building blocks of DNA, its chemical cousin RNA, and molecules such as ATP and GTP that serve as energy sources in the cell.

Purines and pyrimidines may be manufactured from smaller molecules, or they can be recycled from the breakdown of DNA and RNA in a series of reactions called the salvage pathway. Manufacturing purines and pyrimidines uses much more energy and takes more time than recycling them, which makes recycling these molecules more efficient. The salvage pathway ensures that cells have a plentiful supply of purines and pyrimidines.

PRPP synthetase 1 and PRPP are involved in the manufacture of new purines and pyrimidines, and are also essential for the purine salvage pathway.

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