SPINK5

Serine peptidase inhibitor, Kazal type 5
File:PBB Protein SPINK5 image.jpg PDB rendering based on 1h0z.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1h0z​, 1hdl​, 1uuc​, 1uvf​, 1uvg​
Identifiers
Symbols	SPINK5 ; FLJ21544; LEKTI; LETKI; NETS; NS; VAKTI
External IDs	Template:OMIM5 Template:MGI HomoloGene: 4987
Gene ontology Molecular function Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE SPINK5 205185 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Serine peptidase inhibitor, Kazal type 5, also known as SPINK5, is a human gene.

This gene 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.

Further reading

• Norgett EE, Kelsell DP (2002). "SPINK5: both rare and common skin disease". Trends in molecular medicine. 8 (1): 7. PMID 11796258.
• Mägert HJ, Kreutzmann P, Ständker L; et al. (2002). "LEKTI: a multidomain serine proteinase inhibitor with pathophysiological relevance". Int. J. Biochem. Cell Biol. 34 (6): 573–6. PMID 11943586.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Walden M, Kreutzmann P, Drögemüller K; et al. (2003). "Biochemical features, molecular biology and clinical relevance of the human 15-domain serine proteinase inhibitor LEKTI". Biol. Chem. 383 (7–8): 1139–41. PMID 12437098.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Mägert HJ, Ständker L, Kreutzmann P; et al. (1999). "LEKTI, a novel 15-domain type of human serine proteinase inhibitor". J. Biol. Chem. 274 (31): 21499–502. PMID 10419450.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Chavanas S, Garner C, Bodemer C; et al. (2000). "Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping". Am. J. Hum. Genet. 66 (3): 914–21. PMID 10712206.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Chavanas S, Bodemer C, Rochat A; et al. (2000). "Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome". Nat. Genet. 25 (2): 141–2. doi:10.1038/75977. PMID 10835624.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Sprecher E, Chavanas S, DiGiovanna JJ; et al. (2001). "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 (2): 179–87. doi:10.1046/j.1523-1747.2001.01389.x. PMID 11511292.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Walley AJ, Chavanas S, Moffatt MF; et al. (2001). "Gene polymorphism in Netherton and common atopic disease". Nat. Genet. 29 (2): 175–8. doi:10.1038/ng728. PMID 11544479.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ahmed A, Kandola P, Ziada G, Parenteau N (2002). "Purification and partial amino acid sequence of proteins from human epidermal keratinocyte conditioned medium". J. Protein Chem. 20 (4): 273–8. PMID 11594460.CS1 maint: Multiple names: authors list (link)
• Bitoun E, Chavanas S, Irvine AD; et al. (2002). "Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families". J. Invest. Dermatol. 118 (2): 352–61. doi:10.1046/j.1523-1747.2002.01603.x. PMID 11841556.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Komatsu N, Takata M, Otsuki N; et al. (2002). "Elevated stratum corneum hydrolytic activity in Netherton syndrome suggests an inhibitory regulation of desquamation by SPINK5-derived peptides". J. Invest. Dermatol. 118 (3): 436–43. doi:10.1046/j.0022-202x.2001.01663.x. PMID 11874482.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bitoun E, Micheloni A, Lamant L; et al. (2004). "LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome". Hum. Mol. Genet. 12 (19): 2417–30. doi:10.1093/hmg/ddg247. PMID 12915442.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Nishio Y, Noguchi E, Shibasaki M; et al. (2004). "Association between polymorphisms in the SPINK5 gene and atopic dermatitis in the Japanese". Genes Immun. 4 (7): 515–7. doi:10.1038/sj.gene.6363889. PMID 14551605.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Raghunath M, Tontsidou L, Oji V; et al. (2004). "SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases". J. Invest. Dermatol. 123 (3): 474–83. doi:10.1111/j.0022-202X.2004.23220.x. PMID 15304086.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Tidow H, Lauber T, Vitzithum K; et al. (2004). "The solution structure of a chimeric LEKTI domain reveals a chameleon sequence". Biochemistry. 43 (35): 11238–47. doi:10.1021/bi0492399. PMID 15366933.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Yang T, Liang D, Koch PJ; et al. (2004). "Epidermal detachment, desmosomal dissociation, and destabilization of corneodesmosin in Spink5-/- mice". Genes Dev. 18 (19): 2354–8. doi:10.1101/gad.1232104. PMID 15466487.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ishida-Yamamoto A, Deraison C, Bonnart C; et al. (2005). "LEKTI is localized in lamellar granules, separated from KLK5 and KLK7, and is secreted in the extracellular spaces of the superficial stratum granulosum". J. Invest. Dermatol. 124 (2): 360–6. doi:10.1111/j.0022-202X.2004.23583.x. PMID 15675955.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

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