1hdl

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Template:STRUCTURE 1hdl

Contents

LEKTI DOMAIN ONE

Template:ABSTRACT PUBMED 12684009

Disease

[ISK5_HUMAN] Defects in SPINK5 are the cause of Netherton syndrome (NETH) [MIM:256500]. NETH is an autosomal recessive congenital ichthyosis associated with hair shaft abnormalities and anomalies of the immune system. Typical features are ichthyosis linearis circumflexa, ichthyosiform erythroderma, trichorrhexis invaginata (bamboo hair), atopic dermatitis, and hayfever. High postnatal mortality is due to failure to thrive, infections and hypernatremic dehydration.[1]

Function

[ISK5_HUMAN] Serine protease inhibitor, probably important for the anti-inflammatory and/or antimicrobial protection of mucous epithelia. Contribute to the integrity and protective barrier function of the skin by regulating the activity of defense-activating and desquamation-involved proteases. Inhibits KLK5, it's major target, in a pH-dependent manner. Inhibits KLK7, KLK14 CASP14, and trypsin.[2][3][4]

About this Structure

1hdl is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.

Reference

  • Lauber T, Schulz A, Schweimer K, Adermann K, Marx UC. Homologous proteins with different folds: the three-dimensional structures of domains 1 and 6 of the multiple Kazal-type inhibitor LEKTI. J Mol Biol. 2003 Apr 18;328(1):205-19. PMID:12684009
  1. ↑ Chavanas S, Bodemer C, Rochat A, Hamel-Teillac D, Ali M, Irvine AD, Bonafe JL, Wilkinson J, Taieb A, Barrandon Y, Harper JI, de Prost Y, Hovnanian A. Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat Genet. 2000 Jun;25(2):141-2. PMID:10835624 doi:10.1038/75977
  2. ↑ Magert HJ, Standker L, Kreutzmann P, Zucht HD, Reinecke M, Sommerhoff CP, Fritz H, Forssmann WG. LEKTI, a novel 15-domain type of human serine proteinase inhibitor. J Biol Chem. 1999 Jul 30;274(31):21499-502. PMID:10419450
  3. ↑ Deraison C, Bonnart C, Lopez F, Besson C, Robinson R, Jayakumar A, Wagberg F, Brattsand M, Hachem JP, Leonardsson G, Hovnanian A. LEKTI fragments specifically inhibit KLK5, KLK7, and KLK14 and control desquamation through a pH-dependent interaction. Mol Biol Cell. 2007 Sep;18(9):3607-19. Epub 2007 Jun 27. PMID:17596512 doi:10.1091/mbc.E07-02-0124
  4. ↑ Bennett K, Callard R, Heywood W, Harper J, Jayakumar A, Clayman GL, Di WL, Mills K. New role for LEKTI in skin barrier formation: label-free quantitative proteomic identification of caspase 14 as a novel target for the protease inhibitor LEKTI. J Proteome Res. 2010 Aug 6;9(8):4289-94. doi: 10.1021/pr1003467. PMID:20533828 doi:10.1021/pr1003467

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