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Gene: PRPS1 (phosphoribosyl pyrophosphate synthetase 1) Homo sapiens
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Symbol: PRPS1
Name: phosphoribosyl pyrophosphate synthetase 1
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ARTS; CMTX5; deafness 2, perceptive, congenital; deafness, X-linked 2, perceptive, congenital; DFN2; DFNX1; dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1); KIAA0967; phosphoribosyl pyrophosphate synthase I; PPRibP; PRS-I; PRSI; ribose-phosphate diphosphokinase 1; ribose-phosphate pyrophosphokinase 1
Orthologs:
Mus musculus (house mouse) : Prps1 (phosphoribosyl pyrophosphate synthetase 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Prps1 (phosphoribosyl pyrophosphate synthetase 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Prps1 (phosphoribosyl pyrophosphate synthetase 1)
Pan paniscus (bonobo/pygmy chimpanzee) : PRPS1 (phosphoribosyl pyrophosphate synthetase 1)
Canis lupus familiaris (dog) : PRPS1 (phosphoribosyl pyrophosphate synthetase 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Prps1 (phosphoribosyl pyrophosphate synthetase 1)
Sus scrofa (pig) : PRPS1 (phosphoribosyl pyrophosphate synthetase 1)
more info ...
Related Pseudogenes: PRPS1P1   PRPS1P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X107,628,424 - 107,651,026 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X106,871,654 - 106,894,256 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X106,758,415 - 106,780,912 (+)NCBINCBI36hg18NCBI36
Build 34X106,677,903 - 106,700,400NCBI
CeleraX107,343,160 - 107,365,584 (+)NCBI
Cytogenetic MapXq22.3NCBI
HuRefX96,496,454 - 96,518,960 (+)NCBIHuRef
CHM1_1X106,782,575 - 106,805,177 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on PRPS1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 736625
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2019-08-06
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.