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SPINK5 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. Defects in SPINK5 are the cause of Netherton syndrome (NETH). 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. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Inhibitor; Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 5q32
Cellular Component: cell cortex; cytoplasm; cytosol; endoplasmic reticulum; endoplasmic reticulum membrane; extracellular region; intracellular membrane-bound organelle; perinuclear region of cytoplasm
Molecular Function: serine-type endopeptidase inhibitor activity
Biological Process: anagen; epidermal cell differentiation; epithelial cell differentiation; extracellular matrix organization and biogenesis; hair cell differentiation; negative regulation of angiogenesis; negative regulation of immune response; regulation of T cell differentiation
Disease: Ige Responsiveness, Atopic; Netherton Syndrome
Reference #:  Q9NQ38 (UniProtKB)
Alt. Names/Synonyms: DKFZp686K19184; FLJ21544; FLJ97536; FLJ97596; FLJ99794; Hemofiltrate peptide HF6478; Hemofiltrate peptide HF7665; ISK5; LEKTI; LETKI; Lympho-epithelial Kazal-type-related inhibitor; lymphoepithelial Kazal-type-related inhibitor; NETS; NS; serine peptidase inhibitor, Kazal type 5; Serine protease inhibitor Kazal-type 5; serine protease inhibitor, Kazal type 5; SPINK5; VAKTI
Gene Symbols: SPINK5
Molecular weight: 120,714 Da
Basal Isoelectric point: 8.45  Predict pI for various phosphorylation states
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Protein Structure Not Found.
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