• Gene id: 5635

Gene Summary

• Gene Symbol: PRPSAP1   Gene   UCSC   Ensembl
• Aliases: PAP39
• Gene name: phosphoribosyl pyrophosphate synthetase associated protein 1
• Alternate names: phosphoribosyl pyrophosphate synthase-associated protein 1, 39 kDa phosphoribosypyrophosphate synthase-associated protein, PRPP synthase-associated protein 1,
• Gene location: 17q25.1 (76354197: 76309477)     Exons: 11     NC_000017.11
• OMIM: 601249

Protein Summary

• Protein general information: Q14558  
  • Name: Phosphoribosyl pyrophosphate synthase associated protein 1 (PRPP synthase associated protein 1) (39 kDa phosphoribosypyrophosphate synthase associated protein) (PAP39)
  • Length: 356  
  • Mass: 39394
  • Tissue specificity: Ubiquitous.
• Sequence:

  MNAARTGYRVFSANSTAACTELAKRITERLGAELGKSVVYQETNGETRVEIKESVRGQDIFIIQTIPRDVNTAVM
  ELLIMAYALKTACARNIIGVIPYFPYSKQSKMRKRGSIVCKLLASMLAKAGLTHIITMDLHQKEIQGFFSFPVDN
  LRASPFLLQYIQEEIPNYRNAVIVAKSPDAAKRAQSYAERLRLGLAVIHGEAQCTELDMDDGRHSPPMVKNATVH
  PGLELPLMMAKEKPPITVVGDVGGRIAIIVDDIIDDVESFVAAAEILKERGAYKIYVMATHGILSAEAPRLIEES
  SVDEVVVTNTVPHEVQKLQCPKIKTVDISLILSEAIRRIHNGESMAYLFRNITVDD

• Structural information:
  • Interpro: IPR029099  IPR029057  IPR005946  
  • PDB: 2C4K
  • PDBsum: 2C4K
  • STRING: ENSP00000414624
• Other Databases: GeneCards:  PRPSAP1  Malacards:  PRPSAP1

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:0005737	cytoplasm	IBA	cellular component
GO:0006164	purine nucleotide biosynthetic process	IBA	biological process
GO:0000287	magnesium ion binding	IEA	molecular function
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: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:0043086	negative regulation of catalytic activity	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881