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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 a) deafness autosomal recessive type 8 b) deafness autosomal recessive type 10

General

transmembrane serine protease

Properties

SIZE: entity length = 454 aa MW = 49 kD COMPARTMENT: endoplasmic reticulum MOTIF: transmembrane domain {49-69} LDL-receptor class A {72-108} MOTIF: cysteine residue {C73} MODIFICATION: cysteine residue {C85} cysteine residue {C79} MODIFICATION: cysteine residue {C98} cysteine residue {C85} MODIFICATION: cysteine residue {C73} cysteine residue {C92} MODIFICATION: cysteine residue {C107} cysteine residue {C98} MODIFICATION: cysteine residue {C79} cysteine residue {C107} MODIFICATION: cysteine residue {C92} SRCR {109-205} MOTIF: cysteine residue {C129} MODIFICATION: cysteine residue {C194} cysteine residue {C142} MODIFICATION: cysteine residue {C204} cysteine residue {C194} MODIFICATION: cysteine residue {C129} cysteine residue {C204} MODIFICATION: cysteine residue {C142} cysteine residue {C207} MODIFICATION: cysteine residue {C324} proteolytic site {216-217} S1 domain {217-449} MOTIF: N-glycosylation site {N221} cysteine residue {C242} MODIFICATION: cysteine residue {C258} histidine residue {H257} cysteine residue {C258} MODIFICATION: cysteine residue {C242} aspartate residue {D304} cysteine residue {C324} MODIFICATION: cysteine residue {C207} cysteine residue {C338} MODIFICATION: cysteine residue {C407} cysteine residue {C370} MODIFICATION: cysteine residue {C386} cysteine residue {C386} MODIFICATION: cysteine residue {C370} cysteine residue {C397} MODIFICATION: cysteine residue {C425} serine residue {S401} cysteine residue {C407} MODIFICATION: cysteine residue {C338} cysteine residue {C425} MODIFICATION: cysteine residue {C397}

Database Correlations

OMIM correlations MORBIDMAP 605511 UniProt P57727 PFAM correlations Entrez Gene 64699 Kegg hsa:64699

References

  1. UniProt :accession P57727
  2. Atlas of Genetics & Cytogenetics in Oncology & Haematology http://atlasgeneticsoncology.org/genes/TMPRSS3ID42593ch21q22.html