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 varian... See more...

Aliases for PRPS1 Gene

Aliases for PRPS1 Gene

  • Phosphoribosyl Pyrophosphate Synthetase 1 2 3 5
  • Deafness, X-Linked 2, Perceptive, Congenital 2 3
  • Phosphoribosyl Pyrophosphate Synthase I 3 4
  • Ribose-Phosphate Pyrophosphokinase 1 3 4
  • Ribose-Phosphate Diphosphokinase 1 2 3
  • EC 2.7.6.1 4 52
  • PPRibP 3 4
  • PRS-I 3 4
  • DJ1070B1.2 (Phosphoribosyl Pyrophosphate Synthetase 1) 3
  • Deafness 2, Perceptive, Congenital 3
  • CMTX5 3
  • DFNX1 3
  • PRS I 2
  • ARTS 3
  • PRSI 3
  • DFN2 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]

CIViC Summary for PRPS1 Gene

GeneCards Summary for PRPS1 Gene

PRPS1 (Phosphoribosyl Pyrophosphate Synthetase 1) is a Protein Coding gene. Diseases associated with PRPS1 include Arts Syndrome and Phosphoribosylpyrophosphate Synthetase Superactivity. Among its related pathways are Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics and Carbon metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and magnesium ion binding. An important paralog of this gene is PRPS2.

UniProtKB/Swiss-Prot Summary for PRPS1 Gene

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

Additional gene information for PRPS1 Gene

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PRPS1 Gene

Genomics for PRPS1 Gene

GeneHancer (GH) Regulatory Elements for PRPS1 Gene

Promoters and enhancers for PRPS1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ107627 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.8 802 3.6 POLR2G USF1 SP1 PHF8 TEAD4 CTCF POLR2A ZBTB26 SAP30 MYC PRPS1 TSC22D3 MID2 MORC4 ENSG00000213569 piR-56480-055
GH0XJ107849 Enhancer 0.8 Ensembl 4.6 +222.5 222477 3.8 ZNF623 ZNF510 ZNF341 ZNF266 CTCF YY1 ZBTB11 ZNF426 ZBTB1 OVOL3 MID2 RBM41 MORC4 PSMD10 PRPS1 ENSG00000236064 NCBP2L RF00017-8609 piR-31922-021
GH0XJ107632 Enhancer 0.2 Ensembl 0.7 +4.2 4177 0.4 PRPS1 piR-56480-055
GH0XJ107636 Enhancer 0.2 Ensembl 0.4 +7.9 7877 0.2 PRPS1 piR-56480-055
GH0XJ107637 Enhancer 0.2 Ensembl 0.4 +8.3 8277 0.2 PRPS1 piR-56480-055
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRPS1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PRPS1

Top Transcription factor binding sites by QIAGEN in the PRPS1 gene promoter:
  • FOXD1
  • FOXO3b
  • FOXO4
  • GR
  • GR-alpha
  • Nkx2-5
  • p53
  • POU2F1
  • POU2F1a
  • Sox5

Genomic Locations for PRPS1 Gene

Genomic Locations for PRPS1 Gene
chrX:107,628,424-107,651,026
(GRCh38/hg38)
Size:
22,603 bases
Orientation:
Plus strand
chrX:106,871,654-106,894,256
(GRCh37/hg19)
Size:
22,603 bases
Orientation:
Plus strand

Genomic View for PRPS1 Gene

Genes around PRPS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRPS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    P60891-PRPS1_HUMAN
    Recommended name:
    Ribose-phosphate pyrophosphokinase 1
    Protein Accession:
    P60891
    Secondary Accessions:
    • B1ALA8
    • B2R6T7
    • B4DNL6
    • D3DUX6
    • P09329

    Protein attributes for PRPS1 Gene

    Size:
    318 amino acids
    Molecular mass:
    34834 Da
    Cofactor:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for PRPS1 Gene

Selected DME Specific Peptides for PRPS1 Gene

P60891:
  • IVSPDAGGAKRVTSIA
  • DRVAILVDDMADTC
  • GLELGKV
  • KMKHCSKI
  • KDKSRAPI
  • PISAKLVAN
  • FSGSSHQDLSQ
  • QSGCGEIND
  • PVDNLYAEP
  • QIQGFFD
  • KLVANML
  • LMELLIM
  • LAEAIRRTHNGES
  • THGIFSG
  • GFFDIPVD
  • YARQDKK
  • ASASRVTA
  • NDNLMEL
  • IHKERKKANEV
  • GADHIITMDLH
  • FEAVVVTNTIPQ
  • AADKLLSAGAT
  • ESVRGEDVYI
  • QGFFDIP

Post-translational modifications for PRPS1 Gene

  • Ubiquitination at Lys176 and Lys235
  • Modification sites at PhosphoSitePlus

Domains & Families for PRPS1 Gene

Gene Families for PRPS1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for PRPS1 Gene

Blocks:
  • Phosphoribosyl pyrophosphate synthetase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PRPS1 Gene

GenScript: Design optimal peptide antigens:
  • Ribose-phosphate pyrophosphokinase (B4DNL6_HUMAN)
  • Phosphoribosyl pyrophosphate synthase I (PRPS1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P60891

UniProtKB/Swiss-Prot:

PRPS1_HUMAN :
  • Belongs to the ribose-phosphate pyrophosphokinase family.
Family:
  • Belongs to the ribose-phosphate pyrophosphokinase family.
genes like me logo Genes that share domains with PRPS1: view

Function for PRPS1 Gene

Molecular function for PRPS1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + D-ribose 5-phosphate = 5-phospho-alpha-D-ribose 1-diphosphate + AMP + H(+); Xref=Rhea:RHEA:15609, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:58017, ChEBI:CHEBI:78346, ChEBI:CHEBI:456215; EC=2.7.6.1;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by magnesium and inorganic phosphate.
GENATLAS Biochemistry:
phosphoribosyl pyrophosphate synthetase 1

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,IEA 12847698
GO:0005515 protein binding IPI 16189514
GO:0005524 ATP binding IDA,IBA 16939420
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with PRPS1: view
genes like me logo Genes that share phenotypes with PRPS1: view

Human Phenotype Ontology for PRPS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PRPS1 Gene

MGI Knock Outs for PRPS1:
  • Prps1 Prps1<tm1b(EUCOMM)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for PRPS1

CRISPR Products

Clone Products

  • Addgene plasmids for PRPS1

No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for PRPS1 Gene

Localization for PRPS1 Gene

Subcellular locations from

COMPARTMENTS
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 PRPS1 gene
Compartment Confidence
cytosol 5
mitochondrion 2
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for PRPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002189 ribose phosphate diphosphokinase complex IBA 21873635
GO:0005737 cytoplasm IBA 21873635
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 and Subcellular locations from the Human Protein Atlas (HPA) for PRPS1 Gene

Pathways & Interactions for PRPS1 Gene

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

Pathways by source for PRPS1 Gene

1 BioSystems pathway for PRPS1 Gene
1 PharmGKB pathway for PRPS1 Gene
2 Qiagen pathways for PRPS1 Gene
  • Cellular Apoptosis Pathway
  • Mitochondrial Apoptosis
1 GeneTex pathway for PRPS1 Gene

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:0006015 5-phosphoribose 1-diphosphate biosynthetic process TAS --
GO:0006144 purine nucleobase metabolic process IMP 8253776
GO:0006164 purine nucleotide biosynthetic process IBA,IMP 12847698
GO:0006221 pyrimidine nucleotide biosynthetic process NAS 17701896
GO:0007399 nervous system development IMP 8253776
genes like me logo Genes that share ontologies with PRPS1: view

No data available for SIGNOR curated interactions for PRPS1 Gene

Drugs & Compounds for PRPS1 Gene

(6) Drugs for PRPS1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(7) Additional Compounds for PRPS1 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
  • Ribose 5-phosphate
  • D-Ribose 5'-phosphoric acid
  • D-Ribose 5-phosphoric acid
3615-55-2
D-Ribulose 5-phosphate
  • D-erythro-Pent-2-ulose 5-(dihydrogen phosphate)
  • D-erythro-Pent-2-ulose 5-(dihydrogen phosphoric acid)
  • D-Ribulose 5-phosphoric acid
4151-19-3
Phosphoribosyl pyrophosphate
  • 5-phospho-alpha-D-Ribose 1-diphosphate
  • 5-Phosphoribosyl 1-pyrophosphate
  • 5-Phosphoribosyl diphosphate
  • alpha-D-Ribofuranose 5-(dihydrogen phosphate) 1-(trihydrogen diphosphate)
  • ALPHA-PHOSPHORIBOSYLPYROphosphORIC ACID
7540-64-9
Phosphoribosyl-ATP
  • 1-(5-phospho-D-Ribofuranosyl)adenosine 5'-(tetrahydrogen triphosphate)
  • 1-(5-phospho-D-Ribosyl)-ATP
  • 1-(5-Phosphoribosyl)-ATP
  • N1-(5-phospho-D-Ribosyl)-ATP
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with PRPS1: view

Transcripts for PRPS1 Gene

mRNA/cDNA for PRPS1 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for PRPS1

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: -
SP5:

Relevant External Links for PRPS1 Gene

GeneLoc Exon Structure for
PRPS1

Expression for PRPS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PRPS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PRPS1 Gene

This gene is overexpressed in Lymph node (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PRPS1 Gene



Protein tissue co-expression partners for PRPS1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PRPS1

SOURCE GeneReport for Unigene cluster for PRPS1 Gene:

Hs.56

Evidence on tissue expression from TISSUES for PRPS1 Gene

  • Nervous system(5)
  • Blood(4.3)
  • Kidney(3)
  • Liver(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PRPS1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • inner ear
  • larynx
  • lip
  • mouth
  • neck
  • pharynx
  • salivary gland
Thorax:
  • aorta
  • esophagus
  • lung
  • trachea
Abdomen:
  • kidney
  • stomach
Pelvis:
  • ureter
  • urinary bladder
Limb:
  • arm
  • digit
  • finger
  • foot
  • forearm
  • hand
  • knee
  • lower limb
  • shin
  • thigh
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with PRPS1: view

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
mouse
(Mus musculus)
Mammalia Prps1l3 31
  • 100 (a)
OneToOne
Prps1 17 30
  • 92.45 (n)
chimpanzee
(Pan troglodytes)
Mammalia PRPS1 31 30
  • 100 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 95 (a)
OneToMany
dog
(Canis familiaris)
Mammalia PRPS1 30
  • 93.5 (n)
cow
(Bos Taurus)
Mammalia PRPS1 31 30
  • 93.29 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prps1 30
  • 91.93 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 25 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 31
  • 95 (a)
OneToMany
PRPS1 30
  • 85.01 (n)
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 84 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75987 30
zebrafish
(Danio rerio)
Actinopterygii prps1a 31
  • 96 (a)
ManyToMany
prps1b 31 30
  • 81.24 (n)
ManyToMany
Dr.2896 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004890 30
  • 74.24 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6767 31 32 30
  • 73.82 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea R151.2b 32
  • 81 (a)
R151.2a 32
  • 81 (a)
R151.2c 32
  • 80 (a)
R151.2 31
  • 58 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRS4 33 31
  • 61 (a)
PRS2 31
  • 61 (a)
ManyToMany
PRS3 31
  • 60 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons PRS2 30
  • 52.86 (n)
rice
(Oryza sativa)
Liliopsida Os02g0127700 30
  • 53.49 (n)
Os.23170 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2559 31
  • 87 (a)
OneToMany
Cin.2065 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2065 30
Species where no ortholog for PRPS1 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for PRPS1 (if available)
TreeFam:
Gene Tree for PRPS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PRPS1: view image

Paralogs for PRPS1 Gene

Paralogs for PRPS1 Gene

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

  • PRPS1_HUMAN
  • B1ALA7_HUMAN
  • B1ALA9_HUMAN
  • B4DNL6_HUMAN

Pseudogenes.org Pseudogenes for PRPS1 Gene

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

Variants for PRPS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PRPS1 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
650241 Uncertain Significance: Charcot-Marie-Tooth Neuropathy X 107,639,444(+) G/A MISSENSE_VARIANT,INTRON_VARIANT
666743 Benign/Likely Benign: not specified; not provided 107,628,640(+) C/T SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
673065 Benign: not provided 107,649,706(+) C/T INTRON_VARIANT
673460 Likely Benign: not provided 107,629,004(+) C/T INTRON_VARIANT
676271 Benign: not provided 107,645,103(+) C/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for PRPS1 Gene

Variation tolerance for PRPS1 Gene

Residual Variation Intolerance Score: 29.1% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PRPS1 Gene

Human Gene Mutation Database (HGMD)
PRPS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRPS1

SNP Genotyping and Copy Number Assay Products

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

MalaCards: The human disease database

(34) MalaCards diseases for PRPS1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PRPS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PRPS1_HUMAN
  • 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.
  • Note=A mutation in PRPS1 has been found in a patient with a phenotype that bridges that of PRSPS1 superactivity and ARTS syndrome with uric acid overproduction without gout but with recurrent infections, sensorineural hearing loss and motor neuropathy. The intermediate phenotype may be because Leu-142 variant affects both allosteric sites that are involved in inhibition of PRPS1 and the ATP-binding site, which suggests that this substitution can result both in a gain-of-function and loss-of-function of PRPP synthetase. {ECO:0000269 PubMed:22246954}.

Genatlas disease for PRPS1 Gene

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

Additional Disease Information 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 (American journal of human genetics 2010) 2 3 4 54
  2. Arts syndrome is caused by loss-of-function mutations in PRPS1. (PMID: 17701896) de Brouwer AP … van Bokhoven H (American journal of human genetics 2007) 3 4 23 54
  3. 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 HJ … Kim JW (American journal of human genetics 2007) 3 4 23 54
  4. 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 (Journal of biochemistry 1991) 3 4 23 54
  5. Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy. (PMID: 25491489) Almoguera B … Ayuso C (Orphanet journal of rare diseases 2014) 3 4 54

Products for PRPS1 Gene

Sources for PRPS1 Gene