• Gene id: 5631

Gene Summary

• Gene Symbol: PRPS1   Gene   UCSC   Ensembl
• Aliases: ARTS, CMTX5, DFN2, DFNX1, PPRibP, PRS-I, PRSI
• Gene name: phosphoribosyl pyrophosphate synthetase 1
• Alternate names: ribose-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,
• Gene location: Xq22.3 (107628423: 107651025)     Exons: 7     NC_000023.11
• Gene summary(Entrez): 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 phosphoribosylpyrophosp
• OMIM: 311850

Protein Summary

• Protein general information: P60891  
  • Name: Ribose phosphate pyrophosphokinase 1 (EC 2.7.6.1) (PPRibP) (Phosphoribosyl pyrophosphate synthase I) (PRS I)
  • Length: 318  
  • Mass: 34834
• Sequence:

  MPNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQETCVEIGESVRGEDVYIVQSGCGEINDNLMELLIMIN
  ACKIASASRVTAVIPCFPYARQDKKDKSRAPISAKLVANMLSVAGADHIITMDLHASQIQGFFDIPVDNLYAEPA
  VLKWIRENISEWRNCTIVSPDAGGAKRVTSIADRLNVDFALIHKERKKANEVDRMVLVGDVKDRVAILVDDMADT
  CGTICHAADKLLSAGATRVYAILTHGIFSGPAISRINNACFEAVVVTNTIPQEDKMKHCSKIQVIDISMILAEAI
  RRTHNGESVSYLFSHVPL

• Structural information:
  • Interpro: IPR000842  IPR029099  IPR000836  IPR029057  IPR005946   IPR037515  
  • Prosite: PS00114
  • CDD: cd06223
  • PDB: 2H06 2H07 2H08 2HCR 3EFH 3S5J 4F8E 4LYG 4LZN 4LZO 4M0P 4M0U
  • PDBsum: 2H06 2H07 2H08 2HCR 3EFH 3S5J 4F8E 4LYG 4LZN 4LZO 4M0P 4M0U
  • DIP: 61999
  • STRING: ENSP00000361512
• Other Databases: GeneCards:  PRPS1  Malacards:  PRPS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004749	ribose phosphate diphosphokinase activity	IBA	molecular function
GO:0005524	ATP binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0006164	purine nucleotide biosynthetic process	IBA	biological process
GO:0002189	ribose phosphate diphosphokinase complex	IBA	cellular component
GO:0006015	5-phosphoribose 1-diphosphate biosynthetic process	IBA	biological process
GO:0009165	nucleotide biosynthetic process	IBA	biological process
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0009116	nucleoside metabolic process	IEA	biological process
GO:0009156	ribonucleoside monophosphate biosynthetic process	IEA	biological process
GO:0009165	nucleotide biosynthetic process	IEA	biological process
GO:0004749	ribose phosphate diphosphokinase activity	IEA	molecular function
GO:0044249	cellular biosynthetic process	IEA	biological process
GO:0009165	nucleotide biosynthetic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0004749	ribose phosphate diphosphokinase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006015	5-phosphoribose 1-diphosphate biosynthetic process	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006015	5-phosphoribose 1-diphosphate biosynthetic process	IEA	biological process
GO:0004749	ribose phosphate diphosphokinase activity	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0004749	ribose phosphate diphosphokinase activity	IDA	molecular function
GO:0006144	purine nucleobase metabolic process	IMP	biological process
GO:0007399	nervous system development	IMP	biological process
GO:0007399	nervous system development	IMP	biological process
GO:0006221	pyrimidine nucleotide biosynthetic process	NAS	biological process
GO:0006164	purine nucleotide biosynthetic process	IMP	biological process
GO:0034418	urate biosynthetic process	IMP	biological process
GO:0004749	ribose phosphate diphosphokinase activity	IMP	molecular function
GO:0004749	ribose phosphate diphosphokinase activity	IMP	molecular function
GO:0046101	hypoxanthine biosynthetic process	IMP	biological process
GO:0042803	protein homodimerization activity	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism
hsa01200	Carbon metabolism
hsa01230	Biosynthesis of amino acids
hsa00030	Pentose phosphate pathway

Diseases

Associated diseases	References
Charcot-Marie-Tooth disease	KEGG:H00264
Deafness, X-linked	KEGG:H01209
Phosphoribosylpyrophosphate synthetase superactivity	KEGG:H00196
Arts syndrome	KEGG:H00946
Charcot-Marie-Tooth disease	KEGG:H00264
Deafness, X-linked	KEGG:H01209
Phosphoribosylpyrophosphate synthetase superactivity	KEGG:H00196
Arts syndrome	KEGG:H00946
Retinitis pigmentosa	PMID:25491489
Gout	PMID:8253776
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray