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Aliases for PRPS1 Gene

Aliases for PRPS1 Gene

  • Phosphoribosyl Pyrophosphate Synthetase 1 2 3
  • Deafness, X-Linked 2, Perceptive, Congenital 2 3
  • Phosphoribosyl Pyrophosphate Synthase I 3 4
  • Ribose-Phosphate Diphosphokinase 1 2 3
  • EC 4 63
  • PPRibP 3 4
  • CMTX5 3 6
  • DFNX1 3 6
  • PRS-I 3 4
  • DFN2 3 6
  • DJ1070B1.2 (Phosphoribosyl Pyrophosphate Synthetase 1) 3
  • Ribose-Phosphate Pyrophosphokinase 1 3
  • Deafness 2, Perceptive, Congenital 3
  • PRS I 2
  • ARTS 3
  • PRSI 3

External Ids for PRPS1 Gene

Previous HGNC Symbols for PRPS1 Gene

  • DFN2

Previous GeneCards Identifiers for PRPS1 Gene

  • GC0XP102183
  • GC0XP103790
  • GC0XP104904
  • GC0XP105643
  • GC0XP106677
  • GC0XP106871
  • GC0XP096496

Summaries for PRPS1 Gene

Entrez Gene Summary for PRPS1 Gene

  • 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]

GeneCards Summary for PRPS1 Gene

PRPS1 (Phosphoribosyl Pyrophosphate Synthetase 1) is a Protein Coding gene. Diseases associated with PRPS1 include phosphoribosylpyrophosphate synthetase superactivity and charcot-marie-tooth disease, x-linked recessive, 5. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and Apoptotic Pathways in Synovial Fibroblasts. GO annotations related to this gene include protein homodimerization activity and kinase activity. An important paralog of this gene is PRPS1L1.

UniProtKB/Swiss-Prot for PRPS1 Gene

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

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRPS1 Gene

Genomics for PRPS1 Gene

Regulatory Elements for PRPS1 Gene

Genomic Location for PRPS1 Gene

107,628,424 bp from pter
107,651,026 bp from pter
22,603 bases
Plus strand

Genomic View for PRPS1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PRPS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRPS1 Gene

Proteins for PRPS1 Gene

  • Protein details for PRPS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Ribose-phosphate pyrophosphokinase 1
    Protein Accession:
    Secondary Accessions:
    • B1ALA8
    • B2R6T7
    • B4DNL6
    • D3DUX6
    • P09329

    Protein attributes for PRPS1 Gene

    318 amino acids
    Molecular mass:
    34834 Da
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer. The active form is probably a hexamer composed of 3 homodimers.

    Three dimensional structures from OCA and Proteopedia for PRPS1 Gene

    Alternative splice isoforms for PRPS1 Gene


neXtProt entry for PRPS1 Gene

Proteomics data for PRPS1 Gene at MOPED

Post-translational modifications for PRPS1 Gene

  • Ubiquitination at Lys5, Lys18, Lys29, Lys176, Lys194, Lys212, and Lys235
  • Modification sites at PhosphoSitePlus

Other Protein References for PRPS1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

Domains for PRPS1 Gene

Suggested Antigen Peptide Sequences for PRPS1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ribose-phosphate pyrophosphokinase family.
  • Belongs to the ribose-phosphate pyrophosphokinase family.
genes like me logo Genes that share domains with PRPS1: view

No data available for Gene Families for PRPS1 Gene

Function for PRPS1 Gene

Molecular function for PRPS1 Gene

GENATLAS Biochemistry:
phosphoribosyl pyrophosphate synthetase 1
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + D-ribose 5-phosphate = AMP + 5-phospho-alpha-D-ribose 1-diphosphate
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by magnesium and inorganic phosphate
UniProtKB/Swiss-Prot Function:
Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis

Enzyme Numbers (IUBMB) for PRPS1 Gene

Gene Ontology (GO) - Molecular Function for PRPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0004749 ribose phosphate diphosphokinase activity IMP 12847698
GO:0005515 protein binding IPI 16189514
GO:0005524 ATP binding IDA 16939420
GO:0016208 AMP binding IEA --
genes like me logo Genes that share ontologies with PRPS1: view
genes like me logo Genes that share phenotypes with PRPS1: view

Animal Model Products

miRNA for PRPS1 Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PRPS1

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for PRPS1 Gene

Localization for PRPS1 Gene

Subcellular locations from

Jensen Localization Image for PRPS1 Gene COMPARTMENTS Subcellular localization image for PRPS1 gene
Compartment Confidence
cytosol 4
nucleus 2
endoplasmic reticulum 1
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PRPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002189 ribose phosphate diphosphokinase complex IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PRPS1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PRPS1 Gene

Pathways for PRPS1 Gene

genes like me logo Genes that share pathways with PRPS1: view

Pathways by source for PRPS1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot P60891-PRPS1_HUMAN

  • Pathway: Metabolic intermediate biosynthesis; 5-phospho-alpha-D-ribose 1-diphosphate biosynthesis; 5-phospho-alpha-D-ribose 1-diphosphate from D-ribose 5-phosphate (route I): step 1/1

Gene Ontology (GO) - Biological Process for PRPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0006015 5-phosphoribose 1-diphosphate biosynthetic process TAS --
GO:0006144 purine nucleobase metabolic process IMP 8253776
GO:0006164 purine nucleotide biosynthetic process IMP 12847698
GO:0006167 AMP biosynthetic process IEA --
genes like me logo Genes that share ontologies with PRPS1: view

Compounds for PRPS1 Gene

(9) HMDB Compounds for PRPS1 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine monophosphate
  • 5'-AMP
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
D-Ribose 5-phosphate
  • D-Ribose 5-phosphate
D-Ribulose 5-phosphate
  • D-Ribulose 5-phosphate
  • Magnesium

(4) Novoseek inferred chemical compound relationships for PRPS1 Gene

Compound -log(P) Hits PubMed IDs
prpp 94.9 11
purine 75.8 2
uric acid 70.2 3
histidine 35.7 1
genes like me logo Genes that share compounds with PRPS1: view

Transcripts for PRPS1 Gene

Unigene Clusters for PRPS1 Gene

Phosphoribosyl pyrophosphate synthetase 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PRPS1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PRPS1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b
SP1: - -
SP2: - - -
SP3: - - -
SP4: -

Relevant External Links for PRPS1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PRPS1 Gene

mRNA expression in normal human tissues for PRPS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for PRPS1 Gene

This gene is overexpressed in Lymph node (10.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PRPS1 Gene

SOURCE GeneReport for Unigene cluster for PRPS1 Gene Hs.56

genes like me logo Genes that share expressions with PRPS1: view

Expression partners for PRPS1 Gene

* - Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PRPS1 Gene

Orthologs for PRPS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PRPS1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia PRPS1 35
  • 93.29 (n)
  • 100 (a)
PRPS1 36
  • 100 (a)
(Canis familiaris)
Mammalia PRPS1 35
  • 93.5 (n)
  • 100 (a)
(Mus musculus)
Mammalia Prps1 35
  • 92.45 (n)
  • 100 (a)
Prps1 16
Prps1l3 36
  • 100 (a)
(Pan troglodytes)
Mammalia PRPS1 35
  • 100 (n)
  • 100 (a)
PRPS1 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Prps1 35
  • 91.93 (n)
  • 100 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 95 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 25 (a)
(Gallus gallus)
Aves PRPS1 35
  • 85.01 (n)
  • 97.8 (a)
-- 36
  • 95 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 84 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75987 35
(Danio rerio)
Actinopterygii Dr.2896 35
prps1b 35
  • 81.24 (n)
  • 96.86 (a)
prps1a 36
  • 96 (a)
prps1b 36
  • 97 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6767 37
  • 88 (a)
CG6767 35
  • 73.82 (n)
  • 88.33 (a)
CG6767 36
  • 72 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004890 35
  • 74.24 (n)
  • 90.54 (a)
(Caenorhabditis elegans)
Secernentea R151.2a 37
  • 81 (a)
R151.2b 37
  • 81 (a)
R151.2c 37
  • 80 (a)
R151.2 36
  • 58 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRS2 36
  • 61 (a)
PRS3 36
  • 60 (a)
PRS4 36
  • 61 (a)
PRS4 38
thale cress
(Arabidopsis thaliana)
eudicotyledons PRS2 35
  • 52.86 (n)
  • 45.95 (a)
(Oryza sativa)
Liliopsida Os.23170 35
Os02g0127700 35
  • 53.49 (n)
  • 46.73 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2065 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2559 36
  • 87 (a)
Species with no ortholog for PRPS1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PRPS1 Gene

Gene Tree for PRPS1 (if available)
Gene Tree for PRPS1 (if available)

Paralogs for PRPS1 Gene

Paralogs for PRPS1 Gene

(4) SIMAP similar genes for PRPS1 Gene using alignment to 4 proteins: Pseudogenes for PRPS1 Gene

genes like me logo Genes that share paralogs with PRPS1: view

Variants for PRPS1 Gene

Sequence variations from dbSNP and Humsavar for PRPS1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs1126445 -- 107,650,169(+) TAGAG(C/G)TTATC utr-variant-3-prime
rs1804226 -- 107,650,954(+) AACTG(A/G)GATTC utr-variant-3-prime
rs1924215 -- 107,627,573(+) TGCTT(A/G)AAATA upstream-variant-2KB
rs1924216 -- 107,627,855(+) CCATC(C/T)TCCTT upstream-variant-2KB
rs5962867 -- 107,626,975(+) ctatg(C/T)atttt upstream-variant-2KB

Relevant External Links for PRPS1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PRPS1 Gene

Disorders for PRPS1 Gene

(4) OMIM Diseases for PRPS1 Gene (311850)


  • Note=Phosphoribosyl pyrophosphate synthetase I deficiency is a rare condition caused by mutations in PRPS1 that lead to variable disease phenotypes including optic atrophy, retinitis pigmentosa, ataxia, peripheral neuropathy and hearing loss. {ECO:0000269 PubMed:25491489}.
  • Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]: Familial disorder characterized by excessive purine production, gout and uric acid urolithiasis. {ECO:0000269 PubMed:7593598, ECO:0000269 Ref.12}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease, X-linked recessive, 5 (CMTX5) [MIM:311070]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. 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. {ECO:0000269 PubMed:17701900}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • ARTS syndrome (ARTS) [MIM:301835]: 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. {ECO:0000269 PubMed:17701896}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Deafness, X-linked, 1 (DFNX1) [MIM:304500]: A form of deafness characterized by progressive, severe-to-profound sensorineural hearing loss in males. Females manifest mild to moderate hearing loss. {ECO:0000269 PubMed:20021999}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for PRPS1 Gene

(1) Novoseek inferred disease relationships for PRPS1 Gene

Disease -log(P) Hits PubMed IDs
gout 75.8 1

Genatlas disease for PRPS1 Gene

gout,with/without neurodevelopmental abnormalities (PRPS over expression)

Relevant External Links for PRPS1

genes like me logo Genes that share disorders with PRPS1: view

Publications for PRPS1 Gene

  1. Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2. (PMID: 20021999) Liu X. … Yuan H. (Am. J. Hum. Genet. 2010) 2 3 4
  2. Complete nucleotide sequence of human phosphoribosyl pyrophosphate synthetase subunit I (PRS I) cDNA and a comparison with human and rat PRPS gene families. (PMID: 1650777) Sonoda T. … Tatibana M. (J. Biochem. 1991) 3 4 23
  3. Arts syndrome is caused by loss-of-function mutations in PRPS1. (PMID: 17701896) de Brouwer A.P.M. … van Bokhoven H. (Am. J. Hum. Genet. 2007) 3 4 23
  4. Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5). (PMID: 17701900) Kim H.-J. … Kim J.-W. (Am. J. Hum. Genet. 2007) 3 4 23
  5. PRPS1 mutations: four distinct syndromes and potential treatment. (PMID: 20380929) de Brouwer A.P. … Duley J. (Am. J. Hum. Genet. 2010) 3 23

Products for PRPS1 Gene

  • Addgene plasmids for PRPS1

Sources for PRPS1 Gene

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