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Gene: PRPS1 (phosphoribosyl pyrophosphate synthetase 1) Homo sapiens
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Symbol: PRPS1
Name: phosphoribosyl pyrophosphate synthetase 1
Description: Exhibits ATP binding activity; protein homodimerization activity; and ribose phosphate diphosphokinase activity. Involved in nervous system development and purine-containing compound biosynthetic process. Predicted to localize to the cytoplasm and ribose phosphate diphosphokinase complex. Implicated in Arts syndrome; X-linked nonsyndromic deafness; X-linked recessive disease (multiple); gout; and retinitis pigmentosa.
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)
Chlorocebus sabaeus (African green monkey) : 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
GRCh38 EnsemblX107,628,424 - 107,651,026 (+)Ensembl
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
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References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
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Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
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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

RGD Object Information
RGD ID: 736625
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2020-02-11
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.