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FLASH GENE
Symbol LEMD3 contributors: mct/pgu - updated : 17-06-2009
HGNC name LEM domain containing 3
HGNC id 28887
Corresponding disease
DEL12Q14 chromosome12q14 deletions
MELRH melorheostosis
OSPK osteopoikilosis
Location 12q14.3      Physical location : 65.563.350 - 65.642.139
Synonym name
  • integral inner nuclear membrane protein
  • inner nuclear membrane protein Man1
  • Synonym symbol(s) MAN1
    DNA
    TYPE functioning gene
    STRUCTURE 78.74 kb     13 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 4798 99.9 911 - 2006 16648637
  • isoform 1
  • - - 4795 - 910 - -
  • isoform 2
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
    Lymphoid/Immunelymph node   highly
    Nervousbrain    
    Reproductivemale systemprostate   
    Respiratorylung    
    Urinarybladder   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal LEM (LAP2, emerin, MAN1) globular domain of 40 AAs followed by two hydrophobic segments
  • two transmembrane domains
  • a nucleoplasmic and RRM C-terminal domain, exhibiting a DNA binding winged helix domain (Caputo 2006), a structurally heterogeneous linker, a U2AF homology motif (UHM) domain, and a disordered C-terminus
  • HOMOLOGY
    intraspecies homolog to Xenopus Man1
    Homologene
    FAMILY
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,nucleus
    intracellular,nuclear envelope,int
    text integral protein of the inner nuclear membrane
    basic FUNCTION
  • playing a role in the pathogenesis of collagen vascular disease
  • antagonizes both the bone morphogenetic protein (BMP) and transforming growth factor (TGF)-beta signalling pathways through interactions with Smad family proteins
  • is required for myogenic differentiation
  • influences transforming growth factor-beta (TGF-B) signaling by directly interacting with R-Smads
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with SMAD2, SMAD3 through the nucleoplsmic C-terminal domain (negative regulator of SMAD2 and SMAD3)
  • interacts with nuclear lamins and emerin, thus playing a role in nuclear organization
  • binds simultaneously to R-Smads and their targeted DNA sequences
  • SMAD2-MAN1 interaction that regulates transforming growth factor-beta signaling at the inner nuclear membrane
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) OSPK , MELRH , DEL12Q14
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • mutation in LEMD3 may cause muscle diseases
  • Marker
    Therapy target
    ANIMAL & CELL MODELS