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Aliases for PRPS1L1 Gene

Aliases for PRPS1L1 Gene

  • Phosphoribosyl Pyrophosphate Synthetase 1-Like 1 2 3 5
  • Phosphoribosyl Pyrophosphate Synthase 1-Like 1 3 4
  • Phosphoribosyl Pyrophosphate Synthase III 3 4
  • PRPS1-Like 1 3 4
  • EC 4 56
  • PRS-III 3 4
  • PRPSL 3 4
  • PRPS3 3 4
  • Ribose-Phosphate Diphosphokinase Catalytic Chain III 3
  • Phosphoribosylpyrophosphate Synthetase Subunit III 3
  • Ribose-Phosphate Pyrophosphokinase III 3
  • Ribose-Phosphate Pyrophosphokinase 3 3
  • PRPS1 3

External Ids for PRPS1L1 Gene

Previous HGNC Symbols for PRPS1L1 Gene


Previous GeneCards Identifiers for PRPS1L1 Gene

  • GC07U990077
  • GC07M017810
  • GC07M017839
  • GC07M018032

Summaries for PRPS1L1 Gene

Entrez Gene Summary for PRPS1L1 Gene

  • This intronless gene is specifically expressed in the testis, and encodes a protein that is highly homologous to the two subunits of phosphoribosylpyrophosphate synthetase encoded by human X-linked genes, PRPS1 and PRPS2. These enzymes convert pyrimidine, purine or pyridine bases to the corresponding ribonucleoside monophosphates. In vitro transcription/translation and site-directed mutagenesis studies indicate that translation of this mRNA initiates exclusively at a non-AUG (ACG) codon. [provided by RefSeq, Jul 2008]

GeneCards Summary for PRPS1L1 Gene

PRPS1L1 (Phosphoribosyl Pyrophosphate Synthetase 1-Like 1) is a Protein Coding gene. Diseases associated with PRPS1L1 include Charcot-Marie-Tooth Disease, X-Linked Recessive, 5. Among its related pathways are Glycosaminoglycan metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and kinase activity. An important paralog of this gene is PRPS1.

UniProtKB/Swiss-Prot for PRPS1L1 Gene

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

Additional gene information for PRPS1L1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRPS1L1 Gene

Genomics for PRPS1L1 Gene

GeneHancer (GH) Regulatory Elements for PRPS1L1 Gene

Promoters and enhancers for PRPS1L1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I018028 Promoter 0.7 EPDnew 556.2 0.0 -3 0.1 GABPB1 GABPA PRPS1L1 PIR34864 PIR44305
GH07I018027 Enhancer 0.4 Ensembl 550.8 +0.2 162 0.2 GABPB1 GABPA PIR34864 PRPS1L1
GH07I018039 Enhancer 0.5 ENCODE 0.4 -12.3 -12326 0.8 JUND PKNOX1 CREB1 ATF2 PRPS1L1 PIR44305
GH07I018041 Enhancer 0.3 ENCODE 0.4 -13.5 -13490 0.2 ZNF449 PRPS1L1 PIR44305
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PRPS1L1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PRPS1L1 gene promoter:

Genomic Locations for PRPS1L1 Gene

Genomic Locations for PRPS1L1 Gene
1,090 bases
Minus strand

Genomic View for PRPS1L1 Gene

Genes around PRPS1L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRPS1L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRPS1L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRPS1L1 Gene

Proteins for PRPS1L1 Gene

  • Protein details for PRPS1L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Ribose-phosphate pyrophosphokinase 3
    Protein Accession:
    Secondary Accessions:
    • Q6P5P6

    Protein attributes for PRPS1L1 Gene

    318 amino acids
    Molecular mass:
    34839 Da
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer. The active form is probably a hexamer composed of 3 homodimers (By similarity).

neXtProt entry for PRPS1L1 Gene

Selected DME Specific Peptides for PRPS1L1 Gene


Post-translational modifications for PRPS1L1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PRPS1L1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PRPS1L1 Gene

Gene Families for PRPS1L1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PRPS1L1 Gene

GenScript: Design optimal peptide antigens:

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 PRPS1L1: view

Function for PRPS1L1 Gene

Molecular function for PRPS1L1 Gene

GENATLAS Biochemistry:
phosphoribosyl pyrophosphate synthetase 1-like 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 PRPS1L1 Gene

Phenotypes From GWAS Catalog for PRPS1L1 Gene

Gene Ontology (GO) - Molecular Function for PRPS1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0004749 ribose phosphate diphosphokinase activity NAS 2168892
GO:0005524 ATP binding ISS --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with PRPS1L1: view
genes like me logo Genes that share phenotypes with PRPS1L1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PRPS1L1 Gene

Localization for PRPS1L1 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRPS1L1 gene
Compartment Confidence
cytosol 3

Gene Ontology (GO) - Cellular Components for PRPS1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with PRPS1L1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for PRPS1L1 Gene

Pathways & Interactions for PRPS1L1 Gene

genes like me logo Genes that share pathways with PRPS1L1: view

Pathways by source for PRPS1L1 Gene

UniProtKB/Swiss-Prot P21108-PRPS3_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 PRPS1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006015 5-phosphoribose 1-diphosphate biosynthetic process IEA --
GO:0008584 male gonad development IEA --
GO:0009116 nucleoside metabolic process IEA --
GO:0009156 ribonucleoside monophosphate biosynthetic process IEA --
GO:0009165 nucleotide biosynthetic process IEA --
genes like me logo Genes that share ontologies with PRPS1L1: view

No data available for SIGNOR curated interactions for PRPS1L1 Gene

Drugs & Compounds for PRPS1L1 Gene

(3) Drugs for PRPS1L1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved, Investigational Nutra 0
Magnesium Approved Nutra 0
ATP Investigational Nutra Agonist 0

(4) Additional Compounds for PRPS1L1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-Ribose 5-phosphate
  • D-Ribose 5-phosphate
  • D-Ribose-5-P
  • D-Ribose-5-phosphate
  • D-Ribose-5-phosphorate
  • D-Ribose-5-phosphoric acid
D-Ribulose 5-phosphate
  • alpha-D-Ribose 5-phosphate
  • D-Ribulose 5-phosphate
  • Erythro-Pentulose 5-phosphate
  • Ribulose 5-phosphate
  • Ribulose phosphate
Phosphoribosyl pyrophosphate
  • 5-Phospho-a-D-ribose-1-diphosphate
  • 5-Phospho-a-D-ribosyl pyrophosphate
  • 5-Phospho-alpha-D-ribose 1-diphosphate
  • 5-Phospho-alpha-D-ribose-1-diphosphate
  • 5-Phospho-alpha-D-ribosyl pyrophosphate
genes like me logo Genes that share compounds with PRPS1L1: view

Transcripts for PRPS1L1 Gene

mRNA/cDNA for PRPS1L1 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(10) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PRPS1L1 Gene

Phosphoribosyl pyrophosphate synthetase 1-like 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for PRPS1L1 Gene

No ASD Table

Relevant External Links for PRPS1L1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PRPS1L1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PRPS1L1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PRPS1L1 Gene

This gene is overexpressed in Testis (x52.5).

Protein differential expression in normal tissues from HIPED for PRPS1L1 Gene

This gene is overexpressed in Heart (46.7) and Brain (18.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PRPS1L1 Gene

Protein tissue co-expression partners for PRPS1L1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PRPS1L1 Gene:


SOURCE GeneReport for Unigene cluster for PRPS1L1 Gene:


mRNA Expression by UniProt/SwissProt for PRPS1L1 Gene:

Tissue specificity: Testis.
genes like me logo Genes that share expression patterns with PRPS1L1: view

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PRPS1L1 Gene

Orthologs for PRPS1L1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PRPS1L1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PRPS1L1 33
  • 98.64 (n)
(Canis familiaris)
Mammalia PRPS1L1 34
  • 94 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 91 (a)
(Bos Taurus)
Mammalia PRPS1L1 33 34
  • 88.22 (n)
(Mus musculus)
Mammalia Prps1l1 33 16 34
  • 87.42 (n)
(Rattus norvegicus)
Mammalia Prps1l1 33
  • 86.37 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 83 (a)
(Gallus gallus)
Aves -- 34
  • 91 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 81 (a)
(Danio rerio)
Actinopterygii prps1b 34
  • 93 (a)
prps1a 34
  • 91 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6767 34
  • 70 (a)
(Caenorhabditis elegans)
Secernentea R151.2 34
  • 57 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRS2 34
  • 60 (a)
PRS4 34
  • 60 (a)
PRS3 34
  • 58 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2559 34
  • 84 (a)
Species where no ortholog for PRPS1L1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for PRPS1L1 Gene

Gene Tree for PRPS1L1 (if available)
Gene Tree for PRPS1L1 (if available)

Paralogs for PRPS1L1 Gene

Paralogs for PRPS1L1 Gene

(4) SIMAP similar genes for PRPS1L1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with PRPS1L1: view

Variants for PRPS1L1 Gene

Sequence variations from dbSNP and Humsavar for PRPS1L1 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000619977 -- 18,028,436(-) C/T upstream_transcript_variant
rs1001777858 -- 18,029,248(-) A/T upstream_transcript_variant
rs1002557685 -- 18,027,798(-) G/A 5_prime_UTR_variant
rs1003500304 -- 18,028,414(-) A/G upstream_transcript_variant
rs1003827148 -- 18,026,553(-) A/G downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PRPS1L1 Gene

Variant ID Type Subtype PubMed ID
esv3612442 CNV loss 21293372
nsv1022746 CNV gain 25217958
nsv1025023 CNV gain 25217958
nsv1161507 CNV duplication 26073780
nsv606357 CNV gain 21841781

Variation tolerance for PRPS1L1 Gene

Residual Variation Intolerance Score: 79% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.22; 81.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PRPS1L1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRPS1L1 Gene

Disorders for PRPS1L1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PRPS1L1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, x-linked recessive, 5
  • cmtx5
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PRPS1L1

genes like me logo Genes that share disorders with PRPS1L1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PRPS1L1 Gene

Publications for PRPS1L1 Gene

  1. A human testis-specific mRNA for phosphoribosylpyrophosphate synthetase that initiates from a non-AUG codon. (PMID: 2168892) Taira M … Tatibana M (The Journal of biological chemistry 1990) 2 3 4 22 58
  2. Promoter regions of the human X-linked housekeeping genes PRPS1 and PRPS2 encoding phosphoribosylpyrophosphate synthetase subunit I and II isoforms. (PMID: 1314091) Ishizuka T … Tatibana M (Biochimica et biophysica acta 1992) 3 22 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. Defining the Protein-Protein Interaction Network of the Human Protein Tyrosine Phosphatase Family. (PMID: 27432908) Li X … Wang W (Molecular & cellular proteomics : MCP 2016) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for PRPS1L1 Gene

Sources for PRPS1L1 Gene

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