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FLASH GENE
Symbol MUC5B contributors: mct - updated : 20-02-2012
HGNC name mucin 5, subtype B, tracheobronchial
HGNC id 7516
Location 11p15.5      Physical location : 1.244.294 - 1.283.406
Synonym name mucin, salivary
Synonym symbol(s) MG1, MUC5, MUC9, MU5B
DNA
TYPE functioning gene
SPECIAL FEATURE component of a cluster
text secreted mucin cluster member, clustered to chromosome 11p15.5 with three other secreted gel-forming mucins, MUC6, MUC2, and MUC5AC
STRUCTURE 39.11 kb     47 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter (TATA box)
cytosine-phosphate-guanine/HTF
motif repetitive sequence   other
text structure
  • distal TATA box
  • AP2 and NFKB binding site
  • 5'-flanking region contains cis-elements that are potentially involved in its regulation
  • 10Snp and and a dinucleotide insertion-deletion polymorphism upstream of the transcription initiation site
    • MAPPING cloned Y linked N status confirmed
    Map see MUC6
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    47 - 17916 - 5762 - 2011 21619869
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth    
     salivary glandsubmaxillary   
    Reproductivefemale systemuteruscervix  
    respiratorylungbronchi   
    Respiratoryrespiratory tracttrachea   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialabsorptive excretoryalveolar epithelium  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • tandem repeats interrupted by cysteine-rich subdomains (TIL)
  • three Von Willebrand factor type C domain
  • four Von Willebrand factor type D domain
  • cystine-Knot domain at the C terminus
    • HOMOLOGY
    interspecies homolog to murine Muc5b
    intraspecies homolog to MUC5AC,highly
    Homologene
    FAMILY
    CATEGORY secretory
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,Golgi
    basic FUNCTION
  • contributing to the lubricating and viscoelastic properties of whole saliva
  • possible involvement of MUC5B gene in panbronchiolitis
  • MUC5AC and MUC5B may play an important role in the pathogenesis of chronic rhinosinusitis and nasal polyposis
  • major mucin in the gel phase of sputum in chronic obstructive pulmonary disease
  • contribute to the viscoelastic properties of mucus
  • PRKAB1-induced MUC5B expression may be regulated through the MAPK14 signaling pathway in human airway epithelial cells
  • major airway mucin
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NRG1beta1 is a novel mediator of MUC5AC and MUC5B expression in bronchial epithelial cells
  • IGF1 constitutes the pathogenic factor in formation of nasal polyps and the regulatory factor in expression of mucins
  • IGF1 induced MUC8 and MUC5B expression is regulated by activation of the ERK1 and MAPK14 signaling pathway in human airway epithelial cells
    • cell & other
    REGULATION
    activated by LEP (leptin up-regulates MUC5B expression in human airway epithelial cells via mitogen-activated protein kinase pathway)
    induced by agonists of TRPV1 and TRPA1 induced MUC5B release in the nasal airways
    PRKAB1, that induced MUC5B expression
    IGF1 (IGF1 induced MUC8 and MUC5B expression, and activated phosphorylation of ERK1/2 and MAPK14)
    Other regulated by PTGDR, that may have suppressive effects in controlling MUC5B overproduction in the airway
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       gain of function
    activated in gastric cancer (highly active distal promoter, upregulated by protein kinase C and repressed under the influence of methylation)
    constitutional     --over  
    in the airways of individuals with chronic respiratory diseases
    constitutional     --over  
    in chronic rhinosinusitis (CRS)
    Susceptibility to familial interstitial pneumonia and idiopathic pulmonary fibrosis
    Variant & Polymorphism other
  • a common polymorphism in the promoter of MUC5B is associated with familial interstitial pneumonia and idiopathic pulmonary fibrosis
    • Candidate gene
    Marker
  • a long rare MUC5B-MS6 alleles could be used to identify the risk of bladder cancer
    • Therapy target
    ANIMAL & CELL MODELS