transmembrane protease serine 3; serine protease TADG-12; tumor-associated differentially-expressed gene 12 protein (TMPRSS3, ECHOS1, TADG12, UNQ323/PRO382)

Function

• probable serine protease
• role in hearing
• acts as a permissive factor for cochlear hair cells survival
• activation at the onset of hearing
• required for saccular hair cell survival (putative)
• activates ENaC (in vitro)
• undergoes autoproteolytic activation

Structure

• belongs to the peptidase S1 family
• contains 1 LDL-receptor class A domain
• contains 1 peptidase S1 domain
• contains 1 SRCR domain

Compartment

• endoplasmic reticulum membrane;
• single-pass type 2 membrane protein

Alternative splicing

named isoforms=5; A,B(C),D,T,E

Expression

• expressed in many tissues including fetal cochlea
• isoform T is found at increased levels in some carcinomas

Pathology

• defects in TMPRSS3 are the cause of
  • deafness autosomal recessive type 8
  • deafness autosomal recessive type 10

More general terms

• transmembrane serine protease

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=64699
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:64699
• OMIM: https://mirror.omim.org/entry/601072
• OMIM: https://mirror.omim.org/entry/605316
• OMIM: https://mirror.omim.org/entry/605511
• UniProt: http://www.uniprot.org/uniprot/P57727.html