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
IDBP-81489 phosphoribosyl pyrophosphate synthetase 1
IDBP-81491 phosphoribosyl pyrophosphate synthetase 1
IDBP-81493 phosphoribosyl pyrophosphate synthetase 1
IDBP-81495 phosphoribosyl pyrophosphate synthetase 1
IDBP-590549 phosphoribosyl pyrophosphate synthetase 1
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
Accession GO Term
Molecular Function
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
REACT_850 PRPP biosynthesis
KEGG
hsa01100  Metabolic pathways
hsa00030  Pentose phosphate pathway
hsa00230  Purine metabolism
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