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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 variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
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.
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 |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Carbon metabolism | ||
2 | Metabolism |
.40
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3 | Pentose phosphate pathway | ||
4 | Apoptotic Pathways in Synovial Fibroblasts |
Cellular Apoptosis Pathway
.85
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Mitochondrial Apoptosis
.85
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5 | Metabolism of nucleotides |
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 |
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 |
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3615-55-2 |
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D-Ribulose 5-phosphate |
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4151-19-3 |
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Phosphoribosyl pyrophosphate |
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7540-64-9 |
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Phosphoribosyl-ATP |
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pyrophosphate |
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14000-31-8 |
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ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||
SP5: |
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 |
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||||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Dog (Canis familiaris) |
Mammalia | PRPS1 30 |
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||
Cow (Bos Taurus) |
Mammalia | PRPS1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Prps1 30 |
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||
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 |
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||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004890 30 |
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||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG6767 30 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | R151.2a 32 |
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R151.2b 32 |
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R151.2c 32 |
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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 |
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Rice (Oryza sativa) |
Liliopsida | Os02g0127700 30 |
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Os.23170 30 |
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Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.2559 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.2065 30 |
|
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
phosphoribosylpyrophosphate synthetase superactivity |
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arts syndrome |
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charcot-marie-tooth disease, x-linked recessive, 5 |
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deafness, x-linked 1 |
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x-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome |
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