Elafin

PI3
Identifiers
Aliases	PI3, ESI, SKALP, WAP3, WFDC14, cementoin, peptidase inhibitor 3
External IDs	OMIM: 182257; HomoloGene: 122140; GeneCards: PI3; OMA:PI3 - orthologs
Available structures
PDB	Human UniProt search: PDBe RCSB
List of PDB id codes
	1FLE, 2REL
Gene location (Human)
Chr.	Chromosome 20 (human)
End	45,176,544 bp
RNA expression pattern
	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
	; ;
	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
	5266
	n/a
	ENSG00000124102
	n/a
	P19957
	n/a
	NM_002638
	n/a
	NP_002629
	n/a
	Wikidata
View/Edit Human

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]

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 2 3 GRCh38: Ensembl release 89: ENSG00000124102 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.
↑ 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.
1 2 "Entrez Gene: PI3 peptidase inhibitor 3, skin-derived (SKALP)".
↑ 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.
↑ "Archives". Los Angeles Times. November 2012.

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.

This article on a gene on human chromosome 20 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000124102 – Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8287685-3] 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.

[pmid12206714-4] 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.

[entrez-5] 1 2 "Entrez Gene: PI3 peptidase inhibitor 3, skin-derived (SKALP)".

[Paczesny_2009-6] 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.

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Elafin

Function

Clinical significance

References

Further reading

External links