• Gene id: 221823

Gene Summary

• Gene Symbol: PRPS1L1   Gene   UCSC   Ensembl
• Aliases: PRPS1, PRPS3, PRPSL, PRS-III
• Gene name: phosphoribosyl pyrophosphate synthetase 1 like 1
• Alternate names: ribose-phosphate pyrophosphokinase 3, PRPS1-like 1, phosphoribosyl pyrophosphate synthase 1-like 1, phosphoribosyl pyrophosphate synthase III, phosphoribosylpyrophosphate synthetase subunit III, ribose-phosphate diphosphokinase catalytic chain III, ribose-phosp,
• Gene location: 7p21.1 (18027845: 18026769)     Exons: 1     NC_000007.14
• Gene summary(Entrez): This intronless gene is specifically expressed in the testis, and encodes a protein that is highly homologous to the two subunits of phosphoribosylpyrophosphate synthetase encoded by human X-linked genes, PRPS1 and PRPS2. These enzymes convert pyrimidine,
• OMIM: 611566

Protein Summary

• Protein general information: P21108  
  • Name: Ribose phosphate pyrophosphokinase 3 (EC 2.7.6.1) (Phosphoribosyl pyrophosphate synthase 1 like 1) (PRPS1 like 1) (Phosphoribosyl pyrophosphate synthase III) (PRS III)
  • Length: 318  
  • Mass: 34839
  • Tissue specificity: Testis.
• Sequence:

  MPNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQETCVEIDESVRGEDVYIVQSGCGEINDSLMELLIMIN
  ACKIASASRVTAVIPCFPYARQDKKDKSRSPISAKLVANMLSIAGADHIITMDLHASQIQGFFDIPVDNLYAEPT
  VLKWIRENIPEWKNCIIVSPDAGGAKRVTSIADQLNVDFALIHKERKKANEVDCIVLVGDVNDRVAILVDDMADT
  CVTICLAADKLLSAGATRVYAILTHGIFSGPAISRINTACFEAVVVTNTIPQDEKMKHCSKIRVIDISMILAEAI
  RRTHNGESVSYLFSHVPL

• Structural information:
  • Interpro: IPR000842  IPR029099  IPR000836  IPR029057  IPR005946   IPR037515  
  • Prosite: PS00114
  • CDD: cd06223
  • STRING: ENSP00000424595
• Other Databases: GeneCards:  PRPS1L1  Malacards:  PRPS1L1

Gene ontology

GO accession	Term name	Evidence code	Go category
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: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:0042803	protein homodimerization activity	ISS	molecular function
GO:0005524	ATP binding	ISS	molecular function
GO:0004749	ribose phosphate diphosphokinase activity	ISS	molecular function
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:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0009165	nucleotide biosynthetic process	IEA	biological process
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:0006015	5-phosphoribose 1-diphosphate biosynthetic process	IEA	biological process
GO:0004749	ribose phosphate diphosphokinase activity	NAS	molecular function
GO:0005575	cellular_component	ND	cellular component

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
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R