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PRPS1 (phosphoribosyl pyrophosphate synthetase 1)

Gene

5631

Phosphoribosyl pyrophosphate synthetase 1

PRPS1

ARTS, CMTX5, DFN2, DFNX1, PPRibP, PRS-I, PRSI

Xq22.3

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]

Show/Hide all(30)

SNP ID	Visualize variation	Clinical significance	Consequence
rs80338675	A>C	Pathogenic	Coding sequence variant, intron variant, missense variant
rs80338676	T>C	Pathogenic, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs80338731	A>C	Pathogenic	Coding sequence variant, intron variant, missense variant
rs80338732	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs137852540	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs137852541	G>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs137852542	G>C	Pathogenic	Coding sequence variant, intron variant, missense variant
rs137852543	C>A	Pathogenic	Coding sequence variant, intron variant, missense variant
rs137852544	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs137852545	C>G	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs180177151	G>A	Pathogenic	Intron variant, missense variant, coding sequence variant
rs180177152	G>A	Pathogenic	Intron variant, missense variant, coding sequence variant
rs180177153	T>C	Pathogenic	Missense variant, coding sequence variant
rs180177154	G>A	Pathogenic	Missense variant, coding sequence variant
rs398122855	G>C	Pathogenic	Missense variant, intron variant, coding sequence variant
rs587777150	C>G	Pathogenic	Missense variant, intron variant, coding sequence variant
rs587781261	G>T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs587781262	A>G	Pathogenic	Missense variant, intron variant, coding sequence variant
rs587781263	G>T	Pathogenic	Missense variant, coding sequence variant
rs768454424	T>C,G	Likely-pathogenic	Intron variant, coding sequence variant, synonymous variant, missense variant
rs867288458	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs869025593	A>C	Pathogenic	Missense variant, coding sequence variant
rs869025594	T>C	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs879253970	G>A	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1556297584	C>T	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1556299881	A>G	Pathogenic	Intron variant, splice acceptor variant
rs1556300610	C>T	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1556300621	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1602893221	G>C	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1602901832	G>T	Likely-pathogenic	Coding sequence variant, missense variant, intron variant

Show/Hide all(58)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001856	hsa-miR-376a-5p	Luciferase reporter assay	17322061
MIRT022908	hsa-miR-124-3p	Microarray	18668037
MIRT032397	hsa-let-7b-5p	Proteomics	18668040
MIRT042233	hsa-miR-484	CLASH	23622248
MIRT046478	hsa-miR-15b-5p	CLASH	23622248
MIRT736394	hsa-miR-1247-3p	PAR-CLIP	26701625
MIRT739365	hsa-miR-25-3p	PAR-CLIP	26701625
MIRT739391	hsa-miR-25-5p	PAR-CLIP	26701625
MIRT739391	hsa-miR-25-5p	PAR-CLIP	27292025
MIRT741258	hsa-miR-32-5p	PAR-CLIP	26701625
MIRT741810	hsa-miR-363-3p	PAR-CLIP	26701625
MIRT742126	hsa-miR-367-3p	PAR-CLIP	26701625
MIRT742708	hsa-miR-377-5p	PAR-CLIP	26701625
MIRT742708	hsa-miR-377-5p	PAR-CLIP	27292025
MIRT744837	hsa-miR-4459	PAR-CLIP	26701625
MIRT744837	hsa-miR-4459	PAR-CLIP	27292025
MIRT746209	hsa-miR-455-3p	PAR-CLIP	26701625
MIRT746209	hsa-miR-455-3p	PAR-CLIP	27292025
MIRT749466	hsa-miR-500a-3p	PAR-CLIP	26701625
MIRT751861	hsa-miR-6086	PAR-CLIP	26701625
MIRT751861	hsa-miR-6086	PAR-CLIP	27292025
MIRT751919	hsa-miR-6087	PAR-CLIP	26701625
MIRT751919	hsa-miR-6087	PAR-CLIP	27292025
MIRT752828	hsa-miR-6499-3p	PAR-CLIP	26701625
MIRT752828	hsa-miR-6499-3p	PAR-CLIP	27292025
MIRT753367	hsa-miR-6516-5p	PAR-CLIP	26701625
MIRT753367	hsa-miR-6516-5p	PAR-CLIP	27292025
MIRT753521	hsa-miR-658	PAR-CLIP	26701625
MIRT753521	hsa-miR-658	PAR-CLIP	27292025
MIRT756537	hsa-miR-6807-5p	PAR-CLIP	26701625
MIRT756537	hsa-miR-6807-5p	PAR-CLIP	27292025
MIRT759680	hsa-miR-767-5p	PAR-CLIP	26701625
MIRT760628	hsa-miR-92a-3p	PAR-CLIP	26701625
MIRT760656	hsa-miR-92b-3p	PAR-CLIP	26701625
MIRT761405	hsa-miR-1227-3p	PAR-CLIP	27292025
MIRT761975	hsa-miR-1273g-3p	PAR-CLIP	27292025
MIRT765790	hsa-miR-34b-3p	PAR-CLIP	27292025
MIRT766054	hsa-miR-3614-5p	PAR-CLIP	27292025
MIRT766536	hsa-miR-3665	PAR-CLIP	27292025
MIRT767087	hsa-miR-3689d	PAR-CLIP	27292025
MIRT768030	hsa-miR-4252	PAR-CLIP	27292025
MIRT768224	hsa-miR-4266	PAR-CLIP	27292025
MIRT769744	hsa-miR-4497	PAR-CLIP	27292025
MIRT771217	hsa-miR-4695-5p	PAR-CLIP	27292025
MIRT772248	hsa-miR-4779	PAR-CLIP	27292025
MIRT772276	hsa-miR-4786-3p	PAR-CLIP	27292025
MIRT772421	hsa-miR-4793-3p	PAR-CLIP	27292025
MIRT774892	hsa-miR-561-5p	PAR-CLIP	27292025
MIRT775202	hsa-miR-5700	PAR-CLIP	27292025
MIRT775960	hsa-miR-6134	PAR-CLIP	27292025
MIRT776459	hsa-miR-6500-3p	PAR-CLIP	27292025
MIRT777321	hsa-miR-657	PAR-CLIP	27292025
MIRT777700	hsa-miR-671-5p	PAR-CLIP	27292025
MIRT780003	hsa-miR-6830-5p	PAR-CLIP	27292025
MIRT780423	hsa-miR-6851-5p	PAR-CLIP	27292025
MIRT780848	hsa-miR-6880-5p	PAR-CLIP	27292025
MIRT782044	hsa-miR-7703	PAR-CLIP	27292025
MIRT782164	hsa-miR-7847-3p	PAR-CLIP	27292025

Show/Hide all(26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	IEA
GO:0002189	Component	Ribose phosphate diphosphokinase complex	IBA	21873635
GO:0004749	Function	Ribose phosphate diphosphokinase activity	IBA	21873635
GO:0004749	Function	Ribose phosphate diphosphokinase activity	IDA	16939420, 17701900
GO:0004749	Function	Ribose phosphate diphosphokinase activity	IMP	12847698, 17701896
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 25910212, 26496610, 28514442, 29892012, 31515488, 32296183, 32814053
GO:0005524	Function	ATP binding	IBA	21873635
GO:0005524	Function	ATP binding	IDA	16939420
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0006015	Process	5-phosphoribose 1-diphosphate biosynthetic process	IBA	21873635
GO:0006015	Process	5-phosphoribose 1-diphosphate biosynthetic process	IEA
GO:0006015	Process	5-phosphoribose 1-diphosphate biosynthetic process	TAS
GO:0006144	Process	Purine nucleobase metabolic process	IMP	8253776
GO:0006164	Process	Purine nucleotide biosynthetic process	IBA	21873635
GO:0006164	Process	Purine nucleotide biosynthetic process	IMP	12847698
GO:0006221	Process	Pyrimidine nucleotide biosynthetic process	NAS	17701896
GO:0007399	Process	Nervous system development	IMP	8253776, 17701900
GO:0009116	Process	Nucleoside metabolic process	IEA
GO:0009156	Process	Ribonucleoside monophosphate biosynthetic process	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016310	Process	Phosphorylation	IEA
GO:0034418	Process	Urate biosynthetic process	IMP	12847698
GO:0042802	Function	Identical protein binding	IPI	16189514, 25416956, 25502805, 25910212, 31515488, 32296183
GO:0042803	Function	Protein homodimerization activity	IPI	16939420
GO:0046101	Process	Hypoxanthine biosynthetic process	IMP	17701896

MIM	HGNC	e!Ensembl
311850	9462	ENSG00000147224

Protein

UniProt ID

P60891

Protein name

Ribose-phosphate pyrophosphokinase 1 (EC 2.7.6.1) (PPRibP) (Phosphoribosyl pyrophosphate synthase I) (PRS-I)

Protein function

Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.

PDB

2H06 , 2H07 , 2H08 , 2HCR , 3EFH , 3S5J , 4F8E , 4LYG , 4LZN , 4LZO , 4M0P , 4M0U

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13793	Pribosyltran_N	4 → 120	N-terminal domain of ribose phosphate pyrophosphokinase	Domain
PF14572	Pribosyl_synth	198 → 314	Phosphoribosyl synthetase-associated domain	Domain

Sequence

MPNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQETCVEIGESVRGEDVYIVQSGC
GEINDNLMELLIMINACKIASASRVTAVIPCFPYARQDKKDKSRAPISAKLVANMLSVAG
ADHIITMDLHASQIQGFFDIPVDNLYAEPAVLKWIRENISEWRNCTIVSPDAGGAKRVTS
IADRLNVDFALIHKERKKANEVDRMVLVGDVKDRVAILVDDMADTCGTICHAADKLLSAG
ATRVYAILTHGIFSGPAISRINNACFEAVVVTNTIPQEDKMKHCSKIQVIDISMILAEAI
RRTHNGESVSYLFSHVPL

Sequence length

318

Interactions

View interactions

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