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FLASH GENE
Symbol TMPRSS3 contributors: mct - updated : 18-01-2012
HGNC name transmembrane protease, serine 3
HGNC id 11877
EXPRESSION
Rna function mRNA is localized in sensory hair cells in the cochlea and the vestibule
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivestomach   highly Homo sapiens
Hearing/Equilibriumearinnercochlea   Homo sapiens
 earinnercochleaCorti 
Lymphoid/Immunethymus   highly Homo sapiens
Reproductivefemale systemuteruscervix highly
 male systemtestis  highly Homo sapiens
Respiratoryrespiratory tracttrachea  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsensorystato-auditory   Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Hearing / Equilibriumhair cell receptor Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text cochlea, eye retina choroid, RPE, lens , anterior segment
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