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FLASH GENE
Symbol LAMC1 contributors: mct/npt - updated : 26/11/2008
HGNC name laminin, gamma 1 (formerly LAMB2)
HGNC id 6492
DNA
TYPE functioning gene
STRUCTURE 122.13 kb     28 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status confirmed
regionally located located LAMB2 between Fy and the cluster including REN, DAF and CR2
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
28 - 7889 - 1609 - Jakobsson (2008)
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   moderately
Nervousbrain   moderately
Reproductivemale systemprostate  highly
Respiratorylung   highly
Urinarykidney   moderately
Visualeye   lowly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier liningretinal pigment epithelium (RPE) lowly
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a 33 amino acids signal peptide (3.3 kDa)
  • 4 laminin A/neurexin/sex hormone-binding (LNS) globular domains
  • multiple EGF-like motifs with a nidogen binding site in the fourth EGF repeat 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 an cell alpha helical coiled-coil protein
  • a laminin N-terminal domain
  • eleven laminin EGF-like domains
  • a laminin IV domain
  • conjugated GlycoP
    mono polymer heteromer , trimer
    isoforms Precursor a 1576 amino acids mature peptide (174.3 kDa)
    HOMOLOGY
    interspecies homolog to murine Lamc1 (92.84 pc)
    homolog to rattus Lamc1 (92.53 pc)
    homolog to chimpanzee LAMC1 (99.44 pc)
    homolog to chicken LAMC1 (82.58 pc)
    homolog to Drosophila LanB2 (51.17 pc)
    homolog to C.elegans lam-2 (51.16 pc)
    Homologene
    FAMILY
  • intermediate filament family, type V
  • CATEGORY adhesion , structural protein
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • mediating the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components
  • involved in guidance of axons during embryonic development of the human spinal cord
  • playing a role in the pelvic organ development
  • dispensable for vascular development but regulate lumen formation in the absence of flow and vascular tone
  • CELLULAR PROCESS cell life, proliferation/growth
    cell communication
    PHYSIOLOGICAL PROCESS development
    text endoderm development
    PATHWAY
    metabolism
    signaling
    a component
  • one of the major noncollagenous constituent of cutaneous basement membrane zone
  • kinesin complex
  • subunit conposing, with Alpha an Beta subunits, laminin 1, laminin 2, laminin 3, laminin 4, laminin 6, laminin 7 and laminin 11
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to other extracellular matrix components
  • binding site for NFIL3 (expressed in vaginal tissue)
  • cell & other
  • binding to cells via a high affinity receptor
  • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to pelvic organe prolapse
    Variant & Polymorphism other in the promoter of LAMC1 may increase the susceptibility to early-onset pelvic organ prolapse
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS