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FLASH GENE
Symbol TMPRSS3 contributors: mct - updated : 18-01-2012
HGNC name transmembrane protease, serine 3
HGNC id 11877
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a transmembrane domain located near the N terminus
  • a scavenger-receptor cysteine-rich (SRCR), involved in protein-protein interaction
  • serine protease domains
  • a low density lipoprotein receptor A domain (LDLRA domain), which binds calcium
  • a C-terminal serine protease domain from the S1 family of the SA clan of serine-type peptidases for which the prototype is chymotrypsin
  • mono polymer monomer
    HOMOLOGY
    interspecies ortholog to murine Mmu17
    Homologene
    FAMILY
  • protease family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text type II transmembrane serine protease
    basic FUNCTION
  • playing a role in development and maintenance of inner ear
  • acts as a permissive factor for cochlear hair cells survival and activation at the onset of hearing and is required for saccular hair cell survival
  • potentially having a crucial role in the final steps of hair cell morphological/functional maturation
  • required for their proper functioning at the onset of hearing (
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/hearing
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SCNN1A in the inner ear
  • lack of TMPRSS3 leads to a decrease in KCNMA1 potassium channels expression in inner hair cells (IHCs)
  • cell & other
    REGULATION
    inhibited by SERPINB5
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNB8 , DFNB10
    related resource Hereditary Hearing Loss Homepage
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in breast and ovary tumors
    constitutional   insertion    
    beta satellite insertion
    tumoral     --over  
    in epithelial ovarian cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductiveovary
    may represent an attractive target for immunotherapy of ovarian cancer
    ANIMAL & CELL MODELS
  • Tmprss3Y260X homozygous mutation leads to syndromic autosomal recessive profound hearing loss in mice associated with a mild vestibular deficit