SPINK5

From Wikipedia, the free encyclopedia

Serine peptidase inhibitor, Kazal type 5

PDB rendering based on 1h0z.

Available structures: 1h0z, 1hdl, 1uuc, 1uvf, 1uvg

Identifiers

Symbol(s)

SPINK5; FLJ21544; LEKTI; LETKI; NETS; NS; VAKTI

External IDs

OMIM: 605010 MGI: 1919682 HomoloGene: 4987

Gene ontology
Molecular Function:	• serine-type endopeptidase inhibitor activity • peptidase activity
Cellular Component:	• extracellular region • cytoplasm • endoplasmic reticulum • endoplasmic reticulum membrane • cytosol • cell cortex • lamellar body • perinuclear region of cytoplasm
Biological Process:	• negative regulation of angiogenesis • antimicrobial humoral response • extracellular matrix organization and biogenesis • epithelial cell differentiation • hair cell differentiation • anagen • regulation of T cell differentiation • negative regulation of immune response

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

Refseq

NM_006846 (mRNA)
NP_006837 (protein)

XM_283487 (mRNA)
XP_283487 (protein)

Location

Chr 5: 147.42 - 147.5 Mb

Chr 18: 44.09 - 44.14 Mb

Pubmed search

[1]

[2]

Serine peptidase inhibitor, Kazal type 5, also known as SPINK5, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: SPINK5 serine peptidase inhibitor, Kazal type 5.

[edit] 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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.