SPINK5

This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may exhibit unique activities and specificities. These proteins may play a role in skin and hair morphogenesis, as well as anti-inflammatory and antimicrobial protection of mucous epithelia. Mutations in this gene may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. This gene is present in a gene cluster on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

Description

Serine peptidase inhibitor Kazal type 5

Tissue specificity

Tissue enhanced (esophagus, lymphoid tissue, skin , vagina)

Subcell location

Vesicles

Predicted location

Secreted in other tissues

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

5 (148025683 - 148137382)

Ensembl ID

ENSG00000133710  (ver. 103.38)

Orthologs

Mouse Spink5: ENSMUSG00000055561

UniProt

Q9NQ38

neXtProt

NX_Q9NQ38

Human splice variants
Mouse splice variants

Protein structure