• Gene id: 54858

Gene Summary

• Gene Symbol: PGPEP1   Gene   UCSC   Ensembl
• Aliases: PAP-I, PGI, PGP, PGP-I, PGPI, Pcp
• Gene name: pyroglutamyl-peptidase I
• Alternate names: pyroglutamyl-peptidase 1, 5-oxoprolyl-peptidase, pGlu-peptidase I, pyroglutamyl aminopeptidase I, pyrrolidone-carboxylate peptidase,
• Gene location: 19p13.11 (18340597: 18369949)     Exons: 6     NC_000019.10
• Gene summary(Entrez): The gene encodes a cysteine protease and member of the peptidase C15 family of proteins. The encoded protein cleaves amino terminal pyroglutamate residues from protein substrates including thyrotropin-releasing hormone and other neuropeptides. Expression
• OMIM: 615321

Protein Summary

• Protein general information: Q9NXJ5  
  • Name: Pyroglutamyl peptidase 1 (EC 3.4.19.3) (5 oxoprolyl peptidase) (Pyroglutamyl aminopeptidase I) (PAP I) (Pyroglutamyl peptidase I) (PGP I) (Pyrrolidone carboxylate peptidase)
  • Length: 209  
  • Mass: 23138
• Sequence:

  MEQPRKAVVVTGFGPFGEHTVNASWIAVQELEKLGLGDSVDLHVYEIPVEYQTVQRLIPALWEKHSPQLVVHVGV
  SGMATTVTLEKCGHNKGYKGLDNCRFCPGSQCCVEDGPESIDSIIDMDAVCKRVTTLGLDVSVTISQDAGRYLCD
  FTYYTSLYQSHGRSAFVHVPPLGKPYNADQLGRALRAIIEEMLDLLEQSEGKINYCHKH

• Structural information:
  • Interpro: IPR000816  IPR016125  IPR036440  IPR029761  IPR033694   IPR033693  
  • Prosite: PS01334 PS01333
  • CDD: cd00501
  • STRING: ENSP00000269919
• Other Databases: GeneCards:  PGPEP1  Malacards:  PGPEP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0006508	proteolysis	IBA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0016920	pyroglutamyl-peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq