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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
External Ids for PRPS1 Gene
- HGNC: 9462
- Entrez Gene: 5631
- Ensembl: ENSG00000147224
- OMIM: 311850
- UniProtKB: P60891
Previous HGNC Symbols for PRPS1 Gene
- DFN2
Previous GeneCards Identifiers for PRPS1 Gene
- GC0XP102183
- GC0XP103790
- GC0XP104904
- GC0XP105643
- GC0XP106677
- GC0XP106871
- GC0XP096496
Summaries 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 Arts Syndrome. Among its related pathways are Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics and 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
- HGNC(9462)
- Entrez Gene(5631)
- Ensembl(ENSG00000147224)
- OMIM(311850)
- UniProtKB(P60891)
- Open Targets Platform(ENSG00000147224)
- Monarch Initiative
- Search for PRPS1 at DataMed
- Search for PRPS1 at HumanCyc
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 Pubs
Promoters and enhancers for PRPS1 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
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:
-
- Xq22.3 by HGNC
- Xq22.3 by Entrez Gene
- Xq22.3 by Ensembl
PRPS1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression 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
Other Protein References for PRPS1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for PRPS1
- Novus Biologicals Antibodies for PRPS1
-
Abcam antibodies for PRPS1
- Invitrogen Antibodies for PRPS1 (AFLGC-Prps1)
-
Biorbyt antibodies for PRPS1
-
Boster Bio Antibodies for PRPS1
-
Santa Cruz Biotechnology (SCBT) Antibodies for PRPS1
Protein Products
-
OriGene Purified Proteins for PRPS1
- Search Origene for MassSpec and Protein Over-expression Lysates for PRPS1
- Origene Custom Protein Services for PRPS1
- ProSpec Recombinant Proteins for PRPS1
-
Signalway Proteins for PRPS1
-
Abcam proteins for PRPS1
Assay Products
- antibodies-online: Show 6 available PRPS1 Elisa Kits ranked by validation data
- Compare Top PRPS1 Elisa Kits
-
Quality Products:
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
- InterPro:
- Blocks:
-
- Phosphoribosyl pyrophosphate synthetase
- 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- Family:
-
- Belongs to the ribose-phosphate pyrophosphokinase family.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0000287 | magnesium ion binding | IEA | -- |
| GO:0004749 | ribose phosphate diphosphokinase activity | IEA,IMP | 12847698 |
| GO:0005515 | protein binding | IPI | 16189514 |
| GO:0005524 | ATP binding | IBA,IDA | 16939420 |
Phenotypes for PRPS1 Gene
- MGI mutant phenotypes for PRPS1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for PRPS1:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Increased transferrin (TF) endocytosis
- Decreased influenza A/WSN/33 replication
- Decreased influenza A H1N1 (A/WSN/33) virus numbers
- Decreased influenza A H1N1 (A/Hamburg/04/2009) virus numbers
- Decreased viability
- Increased cell viability after pRB stimulation
- Small cells
- Decreased IFN-gamma protein expression
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
- Applied Biological Materials (abm): CRISPR Clones for PRPS1 - Select products 50% OFF >
- * PRPS1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PRPS1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PRPS1
-
Santa Cruz Biotechnology (SCBT) CRISPR for PRPS1
miRNA for PRPS1 Gene
- miRTarBase miRNAs that target PRPS1
-
- hsa-miR-376a-5p (MIRT001856)
- hsa-miR-124-3p (MIRT022908)
- hsa-let-7b-5p (MIRT032397)
- hsa-miR-484 (MIRT042233)
- hsa-miR-15b-5p (MIRT046478)
- hsa-miR-1247-3p (MIRT736394)
- hsa-miR-25-3p (MIRT739365)
- hsa-miR-25-5p (MIRT739391)
- hsa-miR-32-5p (MIRT741258)
- hsa-miR-363-3p (MIRT741810)
- hsa-miR-367-3p (MIRT742126)
- hsa-miR-377-5p (MIRT742708)
- hsa-miR-4459 (MIRT744837)
- hsa-miR-455-3p (MIRT746209)
- hsa-miR-500a-3p (MIRT749466)
- hsa-miR-6086 (MIRT751861)
- hsa-miR-6087 (MIRT751919)
- hsa-miR-6499-3p (MIRT752828)
- hsa-miR-6516-5p (MIRT753367)
- hsa-miR-658 (MIRT753521)
- hsa-miR-6807-5p (MIRT756537)
- hsa-miR-767-5p (MIRT759680)
- hsa-miR-92a-3p (MIRT760628)
- hsa-miR-92b-3p (MIRT760656)
- hsa-miR-1227-3p (MIRT761405)
- hsa-miR-1273g-3p (MIRT761975)
- hsa-miR-34b-3p (MIRT765790)
- hsa-miR-3614-5p (MIRT766054)
- hsa-miR-3665 (MIRT766536)
- hsa-miR-3689d (MIRT767087)
- hsa-miR-4252 (MIRT768030)
- hsa-miR-4266 (MIRT768224)
- hsa-miR-4497 (MIRT769744)
- hsa-miR-4695-5p (MIRT771217)
- hsa-miR-4779 (MIRT772248)
- hsa-miR-4786-3p (MIRT772276)
- hsa-miR-4793-3p (MIRT772421)
- hsa-miR-561-5p (MIRT774892)
- hsa-miR-5700 (MIRT775202)
- hsa-miR-6134 (MIRT775960)
- hsa-miR-6500-3p (MIRT776459)
- hsa-miR-657 (MIRT777321)
- hsa-miR-671-5p (MIRT777700)
- hsa-miR-6830-5p (MIRT780003)
- hsa-miR-6851-5p (MIRT780423)
- hsa-miR-6880-5p (MIRT780848)
- hsa-miR-7703 (MIRT782044)
- hsa-miR-7847-3p (MIRT782164)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PRPS1
- Browse OriGene Inhibitory RNA Products For PRPS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRPS1
Clone Products
- Applied Biological Materials (abm): Clones for PRPS1 - Select products 50% OFF >
- * PRPS1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PRPS1
- Addgene plasmids for PRPS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PRPS1
Cell Line Products
-
Horizon Cell Lines for PRPS1
No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for PRPS1 Gene
Localization for PRPS1 Gene
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| extracellular | 2 |
| mitochondrion | 2 |
| nucleus | 2 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| 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 | -- |
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
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Carbon metabolism | ||
| 2 | Metabolism |
.40
|
|
| 3 | Pentose phosphate pathway | ||
| 4 | Apoptotic Pathways in Synovial Fibroblasts |
Cellular Apoptosis Pathway
.85
|
Mitochondrial Apoptosis
.85
|
| 5 | Metabolism of nucleotides | ||
Pathways by source for PRPS1 Gene
1 BioSystems pathway for PRPS1 Gene
3 Reactome pathways for PRPS1 Gene
1 PharmGKB pathway for PRPS1 Gene
5 KEGG pathways 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.
Interacting Proteins for PRPS1 Gene
Selected Interacting proteins:
P60891-PRPS1_HUMAN
ENSP00000361512
for PRPS1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for PRPS1
| 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 |
No data available for SIGNOR curated interactions for PRPS1 Gene
Drugs & Compounds for PRPS1 Gene
| 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, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| D-Ribose 5-phosphate |
|
3615-55-2 |
|
|||
| D-Ribulose 5-phosphate |
|
4151-19-3 |
|
|||
| Phosphoribosyl pyrophosphate |
|
7540-64-9 |
|
|||
| Phosphoribosyl-ATP |
|
|
||||
| pyrophosphate |
|
14000-31-8 |
|
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 :
-
- ENST00000372418 1414 nts (view in UCSC)
- ENST00000372419 628 nts (view in UCSC)
- ENST00000372428 1748 nts (view in UCSC)
- ENST00000372435 2070 nts (view in UCSC)
- ENST00000643795 1382 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PRPS1 - Select products 50% OFF >
- * PRPS1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PRPS1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PRPS1
-
Santa Cruz Biotechnology (SCBT) CRISPR for PRPS1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PRPS1
- Browse OriGene Inhibitory RNA Products For PRPS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRPS1
Clone Products
- Applied Biological Materials (abm): Clones for PRPS1 - Select products 50% OFF >
- * PRPS1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PRPS1
- Addgene plasmids for PRPS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PRPS1
| 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 embryonic tissues and stem cells from LifeMap Discovery
-
Epiblast (Early Embryonic Tissues)
- Epiblast Cells Epiblast
- Primordial Germ Cell Precursors Epiblast
- Intraembryonic Epiblast Cells Epiblast
- Inner Cell Mass (Early Embryonic Tissues)
-
Gonad
- Primordial Germ Cell Precursors Epiblast
-
Heart (Cardiovascular System)
- Cardiac Crescent Cells Cardiac Crescent
- Blood (Hematopoietic System)
-
Fibroblasts (Uncategorized)
-
Thymus (Hematopoietic System)
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PRPS1
SOURCE GeneReport for Unigene cluster for PRPS1 Gene:
Hs.56Evidence on tissue expression from TISSUES for PRPS1 Gene
- Nervous system(5)
- Blood(4.4)
- Kidney(3.6)
- Liver(2.7)
- Lung(2.4)
- Skin(2.4)
- Intestine(2.2)
- Muscle(2.1)
- Eye(2.1)
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
Primer Products
-
OriGene qPCR primer pairs for PRPS1
-
OriGene qPCR primer pairs and template standards for PRPS1
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PRPS1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Prps1l3 31 |
|
OneToOne | |
| Prps1 30 17 |
|
||||
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| Dog (Canis familiaris) |
Mammalia | PRPS1 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | PRPS1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Prps1 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
| Chicken (Gallus gallus) |
Aves | -- 31 |
|
OneToMany | |
| PRPS1 30 |
|
||||
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | MGC75987 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | prps1a 31 |
|
ManyToMany | |
| prps1b 30 31 |
|
ManyToMany | |||
| Dr.2896 30 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004890 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG6767 30 31 32 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | R151.2a 32 |
|
|
|
| R151.2b 32 |
|
|
|||
| R151.2c 32 |
|
|
|||
| R151.2 31 |
|
OneToMany | |||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PRS4 31 33 |
|
ManyToMany | |
| PRS2 31 |
|
ManyToMany | |||
| PRS3 31 |
|
ManyToMany | |||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | PRS2 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os02g0127700 30 |
|
||
| Os.23170 30 |
|
||||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.2559 31 |
|
OneToMany | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.2065 30 |
|
- Species where no ortholog for PRPS1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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
(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
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: Charcot-Marie-Tooth Neuropathy X; not specified | 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 |
Residual Variation Intolerance Score:
29.1% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PRPS1 Gene
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
(40) MalaCards diseases for PRPS1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| phosphoribosylpyrophosphate synthetase superactivity |
|
|
| arts syndrome |
|
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| charcot-marie-tooth disease, x-linked recessive, 5 |
|
|
| deafness, x-linked 1 |
|
|
| x-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome |
|
|
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
Publications for PRPS1 Gene
- 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
- 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
- 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
- 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
- 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
ExternalLinks
Products for PRPS1 Gene
- Custom Antibody ServicesOriGene Antibodies for PRPS1
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- Addgene plasmids for PRPS1
- antibodies-online: Show 23 available PRPS1 Antibodies ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for PRPS1
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- Horizon Cell Lines for PRPS1
- Browse GeneCopoeia Cell Lines
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- Boster Bio Antibodies for PRPS1
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Sources for PRPS1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
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- (13) UniProtKB/TrEMBL
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- (27) ASD
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- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
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- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
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- (43) HuGE
- (44) Atlas
- (45) GenBank
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- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
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- (55) TGDB
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- (57) Abcam
- (58) Novus Biologicals
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- (60) Sino Biological
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- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
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- (90) CYP
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- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
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- (100) DGIdb
- (101) ClinicalTrials
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- (104) diseasecard
- (105) NIH Rare Diseases
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- (110) Genetics Home Reference
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