SPINK5

Name

serine peptidase inhibitor Kazal type 5

Type

protein-coding

Position

148,025,683–148,137,382 (+)

Aliases

LEKTI, LETKI, NETS, NS, VAKTI

Ensembl

ENSG00000133710

RefSeq RNA

NM_001127698.2, NM_001127699.2, NM_006846.4, XM_011537551.3, XM_047416662.1

RefSeq protein

NP_001121170.1, NP_001121171.1, NP_006837.2, XP_011535853.1, XP_047272618.1

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].

via MyGene.info

Gene · Ensembl

serine peptidase inhibitor Kazal type 5

Symbol

SPINK5

Biotype

Protein coding

Organism

Homo sapiens

Location

5:148,025,683-148,141,031

Strand

Forward (+)

Assembly

GRCh38

Wikidata facts

Image

Protein SPINK5 PDB 1h0z.png

via Wikidata · CC0