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FLASH GENE
Symbol LAMB3 contributors: mct - updated : 21-09-2011
HGNC name laminin, beta 3
HGNC id 6490
Corresponding disease
EBJ1B epidermolysis bullosa junctional, Herlitz type
EBJ2B epidermolysis bullosa junctional, non-Herlitz type
Location 1q32.2      Physical location : 209.788.219 - 209.825.820
Synonym name
  • beta chain of laminin 5
  • laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))
  • nicein-125kDa
  • kalinin-140kDa
  • BM600-125kDa
  • laminin-5 beta3 chain
    • Synonym symbol(s) LAMNB1, LMB3
    DNA
    TYPE functioning gene
    STRUCTURE 37.61 kb     24 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    text two spliced variants encoding the same product
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    24 splicing 4093 129 1172 - 1995 7774918
  • a 17 amino acids signal peptide (1.9 kDa)
  • a 23 exons variant
  • containing exon 2b (shorter than 2a)
  • encoding for the same product as variant 2
    • 22 splicing 4339 129 1172 - 1995 7774918
  • a 17 amino acids signal peptide (1.9 kDa)
  • a 22 exons variant
  • containing exon 2a (longer than 2b)
  • lacking exon 1
  • encoding for the same product as variant 1
    • 23 - 4067 - 1172 - 1995 7774918
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
     mouthtongue  highly
     mouth   highly
    Reproductivefemale systemovary  lowly
    Skin/Tegumentskin   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningepidermisstratum basalehighly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a 17 amino acids signal peptide (1.9 kDa)
  • 4 laminin A/neurexin/sex hormone-binding (LNS) globular domains
  • multiple EGF-like motifs within the N terminal short arm allowing the self assembly of chains through interactions of the most terminal globular domain (VI)
  • a long arm composed of heptad repeats typical of a cell alpha helical coiled-coil protein
    • secondary structure three different polypeptide chains (alpha, beta, gamma)
    conjugated GlycoP
    mono polymer heteromer , trimer
    isoforms Precursor a 1155 amino acids mature peptide (127.6 kDa)
    HOMOLOGY
    interspecies homolog to rattus Lamb3 (82.75 pc)
    homolog to murine Lamb3 (81.68 pc)
    Homologene
    FAMILY
    CATEGORY adhesion , structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text basement membrane, extracellular matrix
    basic FUNCTION
  • mediating the attachment, migration and organization of cells into tissues during embryonic development
  • LAMB3, LAMC2, in conjunction with MMP7, play a key role in the progression of biliary tract cancer
  • proper expression of LAMB3 and LAMA5 may regulate appropriate hair morphogenesis
    • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
  • constituent of cutaneous basement membrane zone
  • subunit of laminin 5
  • laminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other its expression was regulated by histone methylation as well as DNA methylation
    ASSOCIATED DISORDERS
    corresponding disease(s) EBJ1B , EBJ2B
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --other  
    expressed in non small cell lung cancer (coexpression with LAMC2)
    tumoral     --over  
    of LAMB3 and LAMC2 by promoter demethylation in gastric cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • evaluation of LAMB3 and COL7A1 mRNA expression is useful for predicting the malignant properties of esophageal squamous cell carcinoma
    • Therapy target
    ANIMAL & CELL MODELS