ST14

Chr 11

ST14 transmembrane serine protease matriptase

Also known as: ARCI11, CAP3, HAI, MT-SP1, MTSP1, PRSS14, SNC19, TADG15

NCBI Gene: 6768 ENSG00000149418 UniProt: Q9Y5Y6

The protein is an epithelial-derived membrane serine protease that exhibits trypsin-like activity and is involved in terminal differentiation of keratinocytes through prostasin activation and filaggrin processing. Mutations cause congenital ichthyosis, autosomal recessive 11, which presents from birth with abnormal skin keratinization. The gene shows high constraint against loss-of-function variants (LOEUF 0.375) and follows autosomal recessive inheritance.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is an epithelial-derived, integral membrane serine protease. This protease forms a complex with the Kunitz-type serine protease inhibitor, HAI-1, and is found to be activated by sphingosine 1-phosphate. This protease has been shown to cleave and activate hepatocyte growth factor/scattering factor, and urokinase plasminogen activator, which suggest the function of this protease as an epithelial membrane activator for other proteases and latent growth factors. The expression of this protease has been associated with breast, colon, prostate, and ovarian tumors, which implicates its role in cancer invasion, and metastasis. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIchthyosis, congenital, autosomal recessive 11

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.38

LOEUF

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429