Prps1 phosphoribosyl pyrophosphate synthetase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Prps1provided by MGI
Official Full Name: phosphoribosyl pyrophosphate synthetase 1provided by MGI
Primary source: MGI:MGI:97775
See related: Ensembl:ENSMUSG00000031432 AllianceGenome:MGI:97775
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: PRS-I; Prps-1; 2310010D17Rik
Summary: Enables ribose phosphate diphosphokinase activity. Involved in 5-phosphoribose 1-diphosphate biosynthetic process and pentose-phosphate shunt. Is active in cytosol. Is expressed in central nervous system; heart; inner ear; liver; and retina. Human ortholog(s) of this gene implicated in Arts syndrome; X-linked deafness 1; X-linked recessive disease (multiple); gout; and retinitis pigmentosa. Orthologous to human PRPS1 (phosphoribosyl pyrophosphate synthetase 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in frontal lobe adult (RPKM 15.2), CNS E18 (RPKM 14.1) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: X F1; X 61.35 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (139357352..139376889)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (140456603..140476140)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PRPS1 knockdown prolonged survival time, reduced tumor volume and upregulated apoptosis in xenograft mouse model of glioma.
Title: Phosphoribosylpyrophosphate Synthetase 1 Knockdown Suppresses Tumor Formation of Glioma CD133+ Cells Through Upregulating Cell Apoptosis.
Only unedited pri-miR-376 RNAs were detected in the cochlea suggesting that the activity of PRPS1 in the inner ear may not be regulated through the editing of miR-376 cluster.
Title: Analysis of miR-376 RNA cluster members in the mouse inner ear.
PRPS1 loss of function mutations cause a type of nonsyndromic X-linked sensorineural deafness, DFN2
Title: Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (6)
Gene trapped (1)
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH125998 (e-PCR)
- UniSTS:162710

PPP6C (e-PCR)
- UniSTS:278949

RH126017 (e-PCR)
- UniSTS:162729

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ADP binding	ISO Inferred from Sequence Orthology more info
enables AMP binding	ISO Inferred from Sequence Orthology more info
enables ATP binding	ISO Inferred from Sequence Orthology more info
enables ATP binding	ISS Inferred from Sequence or Structural Similarity more info
enables GDP binding	ISO Inferred from Sequence Orthology more info
enables carbohydrate binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables kinase activity	IEA Inferred from Electronic Annotation more info
enables magnesium ion binding	IEA Inferred from Electronic Annotation more info
enables magnesium ion binding	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables ribose phosphate diphosphokinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ribose phosphate diphosphokinase activity	IDA Inferred from Direct Assay more info	PubMed
enables ribose phosphate diphosphokinase activity	ISO Inferred from Sequence Orthology more info
enables ribose phosphate diphosphokinase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in 5-phosphoribose 1-diphosphate biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in 5-phosphoribose 1-diphosphate biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in 5-phosphoribose 1-diphosphate biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in hypoxanthine biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in nervous system development	ISO Inferred from Sequence Orthology more info
involved_in nucleotide biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in pentose-phosphate shunt	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in purine nucleobase metabolic process	ISO Inferred from Sequence Orthology more info
involved_in purine nucleotide biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in purine nucleotide biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in ribonucleoside monophosphate biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in urate biosynthetic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytosol	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
part_of ribose phosphate diphosphokinase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of ribose phosphate diphosphokinase complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: ribose-phosphate pyrophosphokinase 1

Names: phosphoribosyl pyrophosphate synthase I; phosphoribosyl pyrophosphate synthetase I

NP_067438.1

EC 2.7.6.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_021463.4 → NP_067438.1 ribose-phosphate pyrophosphokinase 1

See identical proteins and their annotated locations for NP_067438.1

Status: VALIDATED

Source sequence(s)

AK166856, BC054772, BY003422

Consensus CDS

CCDS30439.1

UniProtKB/Swiss-Prot

Q76MX9, Q9D7G0

UniProtKB/TrEMBL

Q3TI27, Q3UPD5

Related

ENSMUSP00000033809.4, ENSMUST00000033809.4

Conserved Domains (1) summary

COG0462
Location:1 → 313

PrsA; Phosphoribosylpyrophosphate synthetase [Nucleotide transport and metabolism, Amino acid transport and metabolism]