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Description for Protein TMPRSS3

transmembrane protease, serine 3
2 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a serine protease domain, a transmembrane domain, a LDL receptor-like domain, and a scavenger receptor cysteine-rich domain. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified by its association with both congenital and childhood onset autosomal recessive deafness. This gene is expressed in fetal cochlea and many other tissues, and is thought to be involved in the development and maintenance of the inner ear or the contents of the perilymph and endolymph. This gene was also identified as a tumor associated gene that is overexpressed in ovarian tumors. Alternatively spliced transcript variants have been described. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SR: Scavenger receptor Cys-rich
  • TRYPSIN: Trypsin-like serine protease
  • TM: Transmembrane domain
  • LDLA: Low-density lipoprotein receptor domain class A
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.4.21.-
    KEGG - Orthology:
    K09634
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    TADG12; DFNB8; DFNB10; ECHOS1; EC 3.4.21; Transmembrane protease, serine 3 isoform 1; Transmembrane protease, serine 3 isoform 3
    Approved Symbol:
    TMPRSS3
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Deafness, childhood-onset neurosensory, autosomal recessive 8(Pd);
  • Deafness, congenital neurosensory, autosomal recessive 10(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 4 : 1
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 05696 Entrez Gene ID: 64699 OMIM ID: 605511 Swissprot Accession: P57727;