MGP Database

MGP002458

Record overview

MGPD IDMGP002458
Gene ID5631
SpeciesHomo sapiens (Human)
Gene Namephosphoribosyl pyrophosphate synthetase 1
Gene Symbol PRPS1
SynonymsARTS; DFN2; PRSI; CMTX5; DFNX1; PRS-I; PPRibP;
Alternate namesribose-phosphate pyrophosphokinase 1; dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1); deafness 2, perceptive, congenital; deafness, X-linked 2, perceptive, congenital; phosphoribosyl pyrophosphate synthase I; ribose-phosphate diphosphokinase 1;
ChromosomeX
Map LocationXq22.3
EC Number2.7.6.1
SummaryThis 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]
OrthologsView orthologs and multiple alignments for PRPS1

Proteins

ribose-phosphate pyrophosphokinase 1 isoform 1
Refseq ID:NP_002755
Protein GI:4506127
UniProt ID:P60891
mRNA ID:NM_002764
Length:318
RefSeq Status:
MPNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQETCVEIGESVRGEDVYIVQSGCGEINDNLMELLIMINACKIASASRVTAVIPCFPYARQDKK
DKSRAPISAKLVANMLSVAGADHIITMDLHASQIQGFFDIPVDNLYAEPAVLKWIRENISEWRNCTIVSPDAGGAKRVTSIADRLNVDFALIHKERKKAN
EVDRMVLVGDVKDRVAILVDDMADTCGTICHAADKLLSAGATRVYAILTHGIFSGPAISRINNACFEAVVVTNTIPQEDKMKHCSKIQVIDISMILAEAI
RRTHNGESVSYLFSHVPL
 
ribose-phosphate pyrophosphokinase 1 isoform 2
Refseq ID:NP_001191331
Protein GI:324711015
UniProt ID:P60891
mRNA ID:NM_001204402
Length:114
RefSeq Status:
MVLVGDVKDRVAILVDDMADTCGTICHAADKLLSAGATRVYAILTHGIFSGPAISRINNACFEAVVVTNTIPQEDKMKHCSKIQVIDISMILAEAIRRTH
NGESVSYLFSHVPL
 
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