Elafin

Elafin, also known as peptidase inhibitor 3 or skin-derived antileukoprotease (SKALP), is a protein that in humans is encoded by the PI3 gene.^[3][4][5]

PI3
Available structures PDB Human UniProt search: PDBe RCSB List of PDB id codes 1FLE, 2REL
Identifiers
Aliases	PI3, ESI, SKALP, WAP3, WFDC14, cementoin, peptidase inhibitor 3
External IDs	OMIM: 182257; HomoloGene: 122140; GeneCards: PI3; OMA:PI3 - orthologs
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20q13.12 Start 45,174,902 bp[1] End 45,176,544 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in human penis vulva nasal epithelium olfactory zone of nasal mucosa gums gingival epithelium minor salivary glands oral cavity mucosa of pharynx cervix epithelium n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function peptidase inhibitor activity endopeptidase inhibitor activity serine-type endopeptidase inhibitor activity structural constituent of skin epidermis Cellular component extracellular region cytosol cornified envelope extracellular matrix Biological process negative regulation of peptidase activity copulation negative regulation of endopeptidase activity antimicrobial humoral response cornification peptide cross-linking Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5266 n/a Ensembl ENSG00000124102 n/a UniProt P19957 n/a RefSeq (mRNA) NM_002638 n/a RefSeq (protein) NP_002629 n/a Location (UCSC) Chr 20: 45.17 – 45.18 Mb n/a PubMed search [2] n/a
Wikidata
View/Edit Human

Function

This gene encodes an elastase-specific protease inhibitor, which contains a WAP-type four-disulfide core (WFDC) domain, and is thus a member of the WFDC domain family. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster.^[5]

Clinical significance

Elafin has been found to have utility in serving as a biomarker for graft versus host disease of the skin.^[6]

Elafin plays some role in gut inflammation. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000124102 – Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. Molhuizen HO, Zeeuwen PL, Olde Weghuis D, Geurts van Kessel A, Schalkwijk J (Feb 1994). "Assignment of the human gene encoding the epidermal serine proteinase inhibitor SKALP (PI3) to chromosome region 20q12→q13". Cytogenet Cell Genet. 66 (2): 129–31. doi:10.1159/000133683. PMID 8287685.
4. Clauss A, Lilja H, Lundwall A (Nov 2002). "A locus on human chromosome 20 contains several genes expressing protease inhibitor domains with homology to whey acidic protein". Biochem J. 368 (Pt 1): 233–42. doi:10.1042/BJ20020869. PMC 1222987. PMID 12206714.
5. "Entrez Gene: PI3 peptidase inhibitor 3, skin-derived (SKALP)".
6. Paczesny S, Levine JE, Hogan J, Crawford J, Braun TM, Wang H, Faca V, Zhang Q, Pitteri S, Chin A, Choi SW, Kitko CL, Krijanovski OI, Reddy P, Mineishi S, Whitfield J, Jones S, Hanash SM, Ferrara JLM (February 2009). "[Elafin is a Biomarker of Graft Versus Host Disease of the Skin". Biology of Blood and Marrow Transplantation. 15 (2 Suppl 1): 13–14. doi:10.1016/j.bbmt.2008.12.039. PMC 2895410. PMID 20371463.
7. "Archives". Los Angeles Times. November 2012.

Further reading

• Sallenave JM (2003). "The role of secretory leukocyte proteinase inhibitor and elafin (elastase-specific inhibitor/skin-derived antileukoprotease) as alarm antiproteinases in inflammatory lung disease". Respir. Res. 1 (2): 87–92. doi:10.1186/rr18. PMC 59548. PMID 11667971.
• Saheki T, Ito F, Hagiwara H, et al. (1992). "Primary structure of the human elafin precursor preproelafin deduced from the nucleotide sequence of its gene and the presence of unique repetitive sequences in the prosegment". Biochem. Biophys. Res. Commun. 185 (1): 240–5. doi:10.1016/S0006-291X(05)80981-7. PMID 1339270.
• Sallenave JM, Marsden MD, Ryle AP (1992). "Isolation of elafin and elastase-specific inhibitor (ESI) from bronchial secretions. Evidence of sequence homology and immunological cross-reactivity". Biol. Chem. Hoppe-Seyler. 373 (1): 27–33. doi:10.1515/bchm3.1992.373.1.27. PMID 1536690.
• Chang A, Schalkwijk J, Happle R, van de Kerkhof PC (1990). "Elastase-inhibiting activity in scaling skin disorders". Acta Derm. Venereol. 70 (2): 147–51. doi:10.2340/0001555570147151. PMID 1969201.
• Schalkwijk J, de Roo C, de Jongh GJ (1991). "Skin-derived antileukoproteinase (SKALP), an elastase inhibitor from human keratinocytes. Purification and biochemical properties". Biochim. Biophys. Acta. 1096 (2): 148–54. doi:10.1016/0925-4439(91)90053-c. PMID 2001428.
• Sallenave JM, Ryle AP (1991). "Purification and characterization of elastase-specific inhibitor. Sequence homology with mucus proteinase inhibitor". Biol. Chem. Hoppe-Seyler. 372 (1): 13–21. doi:10.1515/bchm3.1991.372.1.13. PMID 2039600.
• Wiedow O, Schröder JM, Gregory H, et al. (1990). "Elafin: an elastase-specific inhibitor of human skin. Purification, characterization, and complete amino acid sequence". J. Biol. Chem. 265 (25): 14791–5. doi:10.1016/S0021-9258(18)77182-2. PMID 2394696.
• Molhuizen HO, Alkemade HA, Zeeuwen PL, et al. (1993). "SKALP/elafin: an elastase inhibitor from cultured human keratinocytes. Purification, cDNA sequence, and evidence for transglutaminase cross-linking". J. Biol. Chem. 268 (16): 12028–32. doi:10.1016/S0021-9258(19)50303-9. PMID 7685029.
• Zhang M, Zou Z, Maass N, Sager R (1995). "Differential expression of elafin in human normal mammary epithelial cells and carcinomas is regulated at the transcriptional level". Cancer Res. 55 (12): 2537–41. PMID 7780965.
• Sallenave JM, Silva A (1993). "Characterization and gene sequence of the precursor of elafin, an elastase-specific inhibitor in bronchial secretions". Am. J. Respir. Cell Mol. Biol. 8 (4): 439–45. doi:10.1165/ajrcmb/8.4.439. PMID 8476637.
• Tsunemi M, Matsuura Y, Sakakibara S, Katsube Y (1996). "Crystal structure of an elastase-specific inhibitor elafin complexed with porcine pancreatic elastase determined at 1.9 A resolution". Biochemistry. 35 (36): 11570–6. doi:10.1021/bi960900l. PMID 8794736.
• Pfundt R, van Ruissen F, van Vlijmen-Willems IM, et al. (1996). "Constitutive and inducible expression of SKALP/elafin provides anti-elastase defense in human epithelia". J. Clin. Invest. 98 (6): 1389–99. doi:10.1172/JCI118926. PMC 507565. PMID 8823304.
• Steinert PM, Marekov LN (1997). "Direct evidence that involucrin is a major early isopeptide cross-linked component of the keratinocyte cornified cell envelope". J. Biol. Chem. 272 (3): 2021–30. doi:10.1074/jbc.272.3.2021. PMID 8999895.
• Francart C, Dauchez M, Alix AJ, Lippens G (1997). "Solution structure of R-elafin, a specific inhibitor of elastase". J. Mol. Biol. 268 (3): 666–77. doi:10.1006/jmbi.1997.0983. PMID 9171290.
• Kuijpers AL, Pfundt R, Zeeuwen PL, et al. (1998). "SKALP/elafin gene polymorphisms are not associated with pustular forms of psoriasis". Clin. Genet. 54 (1): 96–101. doi:10.1111/j.1399-0004.1998.tb03703.x. PMID 9727750. S2CID 34775360.
• Mihaila A, Tremblay GM (2001). "Human alveolar macrophages express elafin and secretory leukocyte protease inhibitor". Z. Naturforsch. C. 56 (3–4): 291–7. doi:10.1515/znc-2001-3-420. PMID 11371023. S2CID 29205936.
• Simpson AJ, Wallace WA, Marsden ME, et al. (2001). "Adenoviral augmentation of elafin protects the lung against acute injury mediated by activated neutrophils and bacterial infection". J. Immunol. 167 (3): 1778–86. doi:10.4049/jimmunol.167.3.1778. PMID 11466403.
• Sumi Y, Inoue N, Azumi H, et al. (2002). "Expression of tissue transglutaminase and elafin in human coronary artery: implication for plaque instability". Atherosclerosis. 160 (1): 31–9. doi:10.1016/S0021-9150(01)00542-1. PMID 11755920.

External links

• Overview of all the structural information available in the PDB for UniProt: P19957 (Elafin) at the PDBe-KB.