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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 63
  • 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
  • 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 Arts Syndrome. Among its related pathways are Glycosaminoglycan metabolism and Carbon metabolism. GO annotations related to this gene include protein homodimerization activity and kinase activity. An important paralog of this gene is PRPSAP2.

UniProtKB/Swiss-Prot for PRPS1L1 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 PRPS1L1 Gene

Genomics for PRPS1L1 Gene

Regulatory Elements for PRPS1L1 Gene

Enhancers for PRPS1L1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PRPS1L1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PRPS1L1 Gene

18,026,774 bp from pter
18,027,863 bp from pter
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

Proteomics data for PRPS1L1 Gene at MOPED

Post-translational modifications for PRPS1L1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PRPS1L1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for PRPS1L1 Gene

Protein Domains for PRPS1L1 Gene

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

No data available for Gene Families for PRPS1L1 Gene

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

Gene Ontology (GO) - Molecular Function for PRPS1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding 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

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

Jensen Localization Image for PRPS1L1 Gene COMPARTMENTS Subcellular localization image for PRPS1L1 gene
Compartment Confidence
cytosol 3

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components 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 --
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

(4) Drugs for PRPS1L1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Phosphoribosyl pyrophosphate Experimental Pharma 0
Magnesium Nutra 0

(3) 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
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:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PRPS1L1 Gene

Phosphoribosyl pyrophosphate synthetase 1-like 1:
Representative Sequences:

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 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

SOURCE GeneReport for Unigene cluster for PRPS1L1 Gene Hs.169284

mRNA Expression by UniProt/SwissProt for PRPS1L1 Gene

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

Protein tissue co-expression partners for PRPS1L1 Gene

Primer Products

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
(Bos Taurus)
Mammalia PRPS1L1 35
  • 88.22 (n)
  • 86.12 (a)
PRPS1L1 36
  • 83 (a)
(Mus musculus)
Mammalia Prps1l1 35
  • 87.42 (n)
  • 91.51 (a)
Prps1l1 16
Prps1l1 36
  • 92 (a)
(Pan troglodytes)
Mammalia PRPS1L1 35
  • 98.64 (n)
  • 96.86 (a)
(Rattus norvegicus)
Mammalia Prps1l1 35
  • 86.37 (n)
  • 91.51 (a)
(Canis familiaris)
Mammalia PRPS1L1 36
  • 94 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 91 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 83 (a)
(Gallus gallus)
Aves -- 36
  • 91 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 81 (a)
(Danio rerio)
Actinopterygii prps1a 36
  • 91 (a)
prps1b 36
  • 93 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6767 36
  • 70 (a)
(Caenorhabditis elegans)
Secernentea R151.2 36
  • 57 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRS2 36
  • 60 (a)
PRS3 36
  • 58 (a)
PRS4 36
  • 60 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2559 36
  • 84 (a)
Species with no ortholog for PRPS1L1:
  • 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 Sequence Context AA Info Type
rs3800962 - 18,026,946(-) GATGA(G/T)AAGAT reference, missense
rs1126434 -- 18,027,681(-) AAGAA(A/G)TTCAG reference, synonymous-codon
rs1126437 -- 18,027,651(-) GAAAT(C/T)GGTGA reference, synonymous-codon
rs12668788 -- 18,029,308(+) GTAAG(A/G)TTCAG upstream-variant-2KB
rs12673527 -- 18,029,726(+) GTGTT(G/T)TTTAA upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv887808 CNV Gain 21882294

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for PRPS1L1 Gene

Disorders for PRPS1L1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
arts syndrome
  • lethal ataxia with deafness and optic atrophy
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PRPS1L1

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (J. Biol. Chem. 1990) 2 3 4 23 67
  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. (Biochim. Biophys. Acta 1992) 3 23
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease. (PMID: 23969696) Sabater-Lleal M. … O'Donnell C.J. (Circulation 2013) 3
  5. Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3. (PMID: 21734401) Ali G. … Leal S.M. (Hum. Hered. 2011) 3

Products for PRPS1L1 Gene

Sources for PRPS1L1 Gene