• Gene id: 400668

Gene Summary

• Gene Symbol: PRSS57   Gene   UCSC   Ensembl
• Aliases: NSP4, PRSSL1, UNQ782
• Gene name: serine protease 57
• Alternate names: serine protease 57, neutrophil serine protease 4, protease, serine 57, serine protease 1-like protein 1,
• Gene location: 19p13.3 (695451: 685545)     Exons: 5     NC_000019.10
• Gene summary(Entrez): This gene encodes an arginine-specific serine protease and member of the peptidase S1 family of proteins. The encoded protein may undergo proteolytic activation before storage in azurophil granules, in neutrophil cells of the immune system. Following neut
• OMIM: 607419

Protein Summary

• Protein general information: Q6UWY2  
  • Name: Serine protease 57 (EC 3.4.21. ) (Neutrophil serine protease 4) (NSP4) (Serine protease 1 like protein 1)
  • Length: 283  
  • Mass: 30334
  • Tissue specificity: Detected in peripheral blood neutrophil granulocytes, but not in other types of leukocytes. Detected in neutrophils and neutrophil precursors in bone marrow (at protein level) (PubMed
• Sequence:

  MGLGLRGWGRPLLTVATALMLPVKPPAGSWGAQIIGGHEVTPHSRPYMASVRFGGQHHCGGFLLRARWVVSAAHC
  FSHRDLRTGLVVLGAHVLSTAEPTQQVFGIDALTTHPDYHPMTHANDICLLRLNGSAVLGPAVGLLRPPGRRARP
  PTAGTRCRVAGWGFVSDFEELPPGLMEAKVRVLDPDVCNSSWKGHLTLTMLCTRSGDSHRRGFCSADSGGPLVCR
  NRAHGLVSFSGLWCGDPKTPDVYTQVSAFVAWIWDVVRRSSPQPGPLPGTTRPPGEAA

• Structural information:
  • Protein Domains: (34..26-)
    (/note="Peptidase-S1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00274"-)
  • Interpro: IPR009003  IPR001314  IPR001254  IPR018114  
  • Prosite: PS50240 PS00134
  • CDD: cd00190
  • PDB: 4Q7X 4Q7Y 4Q7Z 4Q80
  • PDBsum: 4Q7X 4Q7Y 4Q7Z 4Q80
  • STRING: ENSP00000482358
• Other Databases: GeneCards:  PRSS57  Malacards:  PRSS57

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035578	azurophil granule lumen	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0006508	proteolysis	IDA	biological process
GO:0006508	proteolysis	IDA	biological process
GO:0008236	serine-type peptidase activity	IDA	molecular function
GO:0008201	heparin binding	IDA	molecular function
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0008201	heparin binding	IEA	molecular function
GO:0005576	extracellular region	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