Homo sapiens Gene: PRPS1
Summary
InnateDB Gene IDBG-81487.5
Last Modified 2012-02-14 [Report errors or provide feedback]
Gene Symbol PRPS1
Gene Name phosphoribosyl pyrophosphate synthetase 1
Synonyms ARTS; CMTX5; DFN2; DFNX1; PPRibP; PRS-I; PRSI;
Species Homo sapiens
Ensembl Gene ENSG00000147224
Encoded Proteins
phosphoribosyl pyrophosphate synthetase 1
phosphoribosyl pyrophosphate synthetase 1
phosphoribosyl pyrophosphate synthetase 1
phosphoribosyl pyrophosphate synthetase 1
phosphoribosyl pyrophosphate synthetase 1
Protein Structure
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome X:106871737-106894256
Strand Forward strand
Band q22.3
Transcripts
ENST00000372435 ENSP00000361512
ENST00000372428 ENSP00000361505
ENST00000372419 ENSP00000361496
ENST00000372418 ENSP00000361495
ENST00000543248 ENSP00000443185
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 20 experimentally validated interaction(s) in this database.
Experimentally validated
Total 20 [view]
Protein-Protein 19 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000287 magnesium ion binding
GO:0004749 ribose phosphate diphosphokinase activity
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0042803 protein homodimerization activity
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0006015 5-phosphoribose 1-diphosphate biosynthetic process
GO:0006144 purine nucleobase metabolic process
GO:0006164 purine nucleotide biosynthetic process
GO:0006221 pyrimidine nucleotide biosynthetic process
GO:0007399 nervous system development
GO:0009116 nucleoside metabolic process
GO:0009156 ribonucleoside monophosphate biosynthetic process
GO:0009165 nucleotide biosynthetic process
GO:0034418 urate biosynthetic process
GO:0044281 small molecule metabolic process
GO:0046101 hypoxanthine biosynthetic process
Cellular Component
GO:0005829 cytosol
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
PRPP biosynthesis pathway
KEGG
Pentose phosphate pathway pathway
Purine metabolism pathway
Metabolic pathways pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt P60891
TrEMBL B1ALA7 B1ALA9 B4DNL6 B7ZB02 Q15244
UniProt Splice Variant
Entrez Gene 5631
UniGene Hs.56
RefSeq NM_002764
HUGO 9462
OMIM 311850
CCDS CCDS14529
HPRD 02413
IMGT
EMBL AK297968 AK316467 AL137787 AL772400 BC001605 CH471120 D00860 D28133 X15331
GenPept AAH01605 BAA00733 BAA05675 BAG60278 BAH14838 CAA33386 CAI41097 CAI41098 CAI41099 CAI42172 CAI42173 CAI42174 EAX02709 EAX02710 EAX02711
ImmGen PRPS1 (murine)
RNA Seq Atlas 5631