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serine protease inhibitor Kazal-type 5; lympho-epithelial Kazal-type-related inhibitor; LEKTI; contains: hemofiltrate peptide HF6478; hemofiltrate peptide HF7665 (SPINK5)

Function: - serine protease inhibitor - probably important for the anti-inflammatory &/or antimicrobial protection of mucous epithelia - contributes to the integrity & protective barrier function of the skin by regulating the activity of defense- activating & desquamation-involved proteases - inhibits KLK5, it's major target, in a pH-dependent manner - inhibits KLK7, KLK14 CASP14, & trypsin - proteolytically processed by furin in individual domains (D1, D5, D6, D8 through D11, & D9 through D15) exhibiting various inhibitory potentials for multiple proteases Structure: - contains at least one active inhibitory domain for trypsin (domain 6) - contains 15 Kazal-like domains Compartment: secreted Alternative splicing: named isoforms=3 Expression: - highly expressed in the thymus & stratum corneum - also found in the oral mucosa, parathyroid gland, Bartholin's glands, tonsils, & vaginal epithelium - very low levels are detected in lung, kidney, & prostate Pathology: - defects in SPINK5 are the cause of Netherton syndrome

Related

Netherton syndrome; trichorrhexis invaginata; bamboo hair

General

Kazal type serine protease inhibitor secreted protein

Properties

SIZE: MW = 121 kD entity length = 1064 aa COMPARTMENT: extracellular compartment MOTIF: signal sequence {1-22} Kazal-type serine protease inhibitor domain {28-1046} (15) MOTIF: cysteine residue {X+0} MODIFICATION: cysteine residue {X+X4} cysteine residue {X+X1} MODIFICATION: cysteine residue {X+X3} cysteine residue {X+X2} MODIFICATION: cysteine residue {X+X5} cysteine residue {X+X3} MODIFICATION: cysteine residue {X+X1} cysteine residue {X+X4} MODIFICATION: cysteine residue {X+0} cysteine residue {X+X5} MODIFICATION: cysteine residue {X+X2} FOR-BINDING-OF: serine protease INHIBITS: serine protease

Database Correlations

OMIM correlations MORBIDMAP 605010 UniProt Q9NQ38 PFAM correlations Entrez Gene 11005 Kegg hsa:11005

References

  1. UniProt :accession Q9NQ38
  2. SPINK5base; SPINK5 mutation db http://bioinf.uta.fi/SPINK5base/
  3. GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/SPINK5