• Gene id: 5266

Gene Summary

• Gene Symbol: PI3   Gene   UCSC   Ensembl
• Aliases: ESI, SKALP, WAP3, WFDC14, cementoin
• Gene name: peptidase inhibitor 3
• Alternate names: elafin, PI-3, WAP four-disulfide core domain 14, WAP four-disulfide core domain protein 14, elastase-specific inhibitor, peptidase inhibitor 3, skin-derived, pre-elafin, protease inhibitor 3, skin-derived (SKALP), protease inhibitor WAP3, skin-derived antileukopro,
• Gene location: 20q13.12 (45174901: 45176543)     Exons: 3     NC_000020.11
• Gene summary(Entrez): This gene encodes an elastase-specific inhibitor that functions as an antimicrobial peptide against Gram-positive and Gram-negative bacteria, and fungal pathogens. The protein contains a WAP-type four-disulfide core (WFDC) domain, and is thus a member of
• OMIM: 182257

Protein Summary

• Protein general information: P19957  
  • Name: Elafin (Elastase specific inhibitor) (ESI) (Peptidase inhibitor 3) (PI 3) (Protease inhibitor WAP3) (Skin derived antileukoproteinase) (SKALP) (WAP four disulfide core domain protein 14)
  • Length: 117  
  • Mass: 12270
• Sequence:

  MRASSFLIVVVFLIAGTLVLEAAVTGVPVKGQDTVKGRVPFNGQDPVKGQVSVKGQDKVKAQEPVKGPVSTKPGS
  CPIILIRCAMLNPPNRCLKDTDCPGIKKCCEGSCGMACFVPQ

• Structural information:
  • Protein Domains: (69..11-)
    (/note="WAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00722"-)
  • Interpro: IPR036645  IPR002098  IPR019541  IPR008197  
  • Prosite: PS00313 PS51390
  • PDB: 1FLE 2REL 6ATU
  • PDBsum: 1FLE 2REL 6ATU
  • STRING: ENSP00000243924
• Other Databases: GeneCards:  PI3  Malacards:  PI3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005615	extracellular space	IBA	cellular component
GO:0019731	antibacterial humoral response	IBA	biological process
GO:0045087	innate immune response	IBA	biological process
GO:0004867	serine-type endopeptidase inhibitor activity	IBA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0007620	copulation	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0010466	negative regulation of peptidase activity	IEA	biological process
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	TAS	molecular function
GO:0004866	endopeptidase inhibitor activity	TAS	molecular function
GO:0031012	extracellular matrix	TAS	cellular component
GO:0001533	cornified envelope	TAS	cellular component
GO:0019730	antimicrobial humoral response	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0070268	cornification	TAS	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0001533	cornified envelope	IDA	cellular component
GO:0030280	structural constituent of skin epidermis	IDA	molecular function
GO:0018149	peptide cross-linking	IDA	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