• Gene id: 5636

Gene Summary

• Gene Symbol: PRPSAP2   Gene   UCSC   Ensembl
• Aliases: PAP41
• Gene name: phosphoribosyl pyrophosphate synthetase associated protein 2
• Alternate names: phosphoribosyl pyrophosphate synthase-associated protein 2, 41 kDa phosphoribosypyrophosphate synthetase-associated protein, PRPP synthase-associated protein 2,
• Gene location: 17p11.2 (18856298: 18931286)     Exons: 18     NC_000017.11
• Gene summary(Entrez): This gene encodes a protein that associates with the enzyme phosphoribosylpyrophosphate synthetase (PRS). PRS catalyzes the formation of phosphoribosylpyrophosphate which is a substrate for synthesis of purine and pyrimidine nucleotides, histidine, trypto
• OMIM: 607357

Protein Summary

• Protein general information: O60256  
  • Name: Phosphoribosyl pyrophosphate synthase associated protein 2 (PRPP synthase associated protein 2) (41 kDa phosphoribosypyrophosphate synthetase associated protein) (PAP41)
  • Length: 369  
  • Mass: 40926
  • Tissue specificity: Ubiquitous.
• Sequence:

  MFCVTPPELETKMNITKGGLVLFSANSNSSCMELSKKIAERLGVEMGKVQVYQEPNRETRVQIQESVRGKDVFII
  QTVSKDVNTTIMELLIMVYACKTSCAKSIIGVIPYFPYSKQCKMRKRGSIVSKLLASMMCKAGLTHLITMDLHQK
  EIQGFFNIPVDNLRASPFLLQYIQEEIPDYRNAVIVAKSPASAKRAQSFAERLRLGIAVIHGEAQDAESDLVDGR
  HSPPMVRSVAAIHPSLEIPMLIPKEKPPITVVGDVGGRIAIIVDDIIDDVDSFLAAAETLKERGAYKIFVMATHG
  LLSSDAPRRIEESAIDEVVVTNTIPHEVQKLQCPKIKTVDISMILSEAIRRIHNGESMSYLFRNIGLDD

• Structural information:
  • Interpro: IPR029099  IPR000836  IPR029057  IPR005946  
  • CDD: cd06223
  • PDB: 2JI4
  • PDBsum: 2JI4
  • STRING: ENSP00000268835
• Other Databases: GeneCards:  PRPSAP2  Malacards:  PRPSAP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009165	nucleotide biosynthetic process	IBA	biological process
GO:0006015	5-phosphoribose 1-diphosphate biosynthetic process	IBA	biological process
GO:0002189	ribose phosphate diphosphokinase complex	IBA	cellular component
GO:0006164	purine nucleotide biosynthetic process	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0004749	ribose phosphate diphosphokinase activity	IBA	molecular function
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0009116	nucleoside metabolic process	IEA	biological process
GO:0009165	nucleotide biosynthetic process	IEA	biological process
GO:0004749	ribose phosphate diphosphokinase activity	IEA	molecular function
GO:0009165	nucleotide biosynthetic process	IEA	biological process
GO:0004857	enzyme inhibitor activity	TAS	molecular function
GO:0006139	nucleobase-containing compound metabolic process	TAS	biological process
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:0002189	ribose phosphate diphosphokinase complex	IEA	cellular component
GO:0032991	protein-containing complex	IEA	cellular component
GO:0060348	bone development	IEA	biological process
GO:0043086	negative regulation of catalytic activity	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R