Serine Peptidase Inhibitor Kazal Type 5 (SPINK5)

LEKTI; LETKI; NETS; NS; VAKTI; Lymphoepithelial Kazal-Type-Related Inhibitor; Lympho-epithelial Kazal-type-related inhibitor

SPN	P598
HGNC	15464
MGI	1919682
PubMed	12752122
RGD	1306540
UniProt	Q9NQ38
Wiki	SPINK5

SPINK5 encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The inhibitor may play a role in skin and hair morphogenesis and anti-inflammatory and/or antimicrobial protection of mucous epithelia. Mutations may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy.The entire precursor protein, as deduced from the nucleotide sequence of the cloned cDNA, includes 15 potential inhibitory domains, 13 of which exhibit a Kazal-type-derived 4-cysteine-residue pattern that represents a novel protein module of serine protease inhibitor. Northern blot analysis and RT-PCR detected expression of LEKTI in thymus, vaginal epithelium, Bartholin gland, oral mucosa, tonsil, and parathyroid gland.

Reference

"LEKTI, a novel 15-domain type of human serine proteinase inhibitor."
J. Biol. Chem. 274:21499-21502(1999) [PubMed] [Europe PMC] [Abstract]

"Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome."
Nat. Genet. 25:141-142(2000) [PubMed] [Europe PMC] [Abstract]

"SPINK5, the defective gene in netherton syndrome, encodes multiple LEKTI isoforms derived from alternative pre-mRNA processing."
J. Invest. Dermatol. 126:315-324(2006) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and comparative analysis of human chromosome 5."
Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]

"The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis."
J. Invest. Dermatol. 117:179-187(2001) [PubMed] [Europe PMC] [Abstract]

"Purification and partial amino acid sequence of proteins from human epidermal keratinocyte conditioned medium."
J. Protein Chem. 20:273-278(2001) [PubMed] [Europe PMC] [Abstract]

"LEKTI fragments specifically inhibit KLK5, KLK7, and KLK14 and control desquamation through a pH-dependent interaction."
Mol. Biol. Cell 18:3607-3619(2007) [PubMed] [Europe PMC] [Abstract]

"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. 9:4289-4294(2010) [PubMed] [Europe PMC] [Abstract]

"Homologous proteins with different folds: the three-dimensional structures of domains 1 and 6 of the multiple Kazal-type inhibitor LEKTI."
J. Mol. Biol. 328:205-219(2003) [PubMed] [Europe PMC] [Abstract]

"The solution structure of a chimeric LEKTI domain reveals a chameleon sequence."
Biochemistry 43:11238-11247(2004) [PubMed] [Europe PMC] [Abstract]

"Gene polymorphism in Netherton and common atopic disease."
Nat. Genet. 29:175-178(2001) [PubMed] [Europe PMC] [Abstract]