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FLASH GENE
Symbol LAMA1 contributors: mct/npt - updated : 23-06-2010
HGNC name laminin, alpha 1
HGNC id 6481
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinelarge intestinecolon lowly
 pharynx   lowly
Endocrinethyroid   highly
Nervousbrain   lowly
Reproductivefemale systemovary  lowly
 male systemtestis  highly
Respiratoryrespiratory tracttrachea  lowly
Skin/Tegumentskin   moderately
Urinarybladder   moderately
 kidney   moderately
Visualeye   lowly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connective   highly
Epithelialbarrier liningretinal pigment epithelium (RPE) moderately
Muscularstriatumskeletal moderately
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo
Text embryonic tissue at an highly level
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a laminin N-terminal domain
  • four laminin A/neurexin/sex hormone-binding (LNS) globular domains
  • 17 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 and five globular domains, binding to integrins and/or dystroglycan in the C terminal region
  • conjugated GlycoP
    mono polymer heteromer , trimer
    HOMOLOGY
    interspecies homolog to rattus Lama1 (76.96 pc)
    homolog to murine Lama1 (76.61 pc)
    Homologene
    FAMILY
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text basement membrane
    basic FUNCTION
  • may be mediating the attachment, migration and
  • organization of cells into tissues during embryonic development by interacting with other matrix components
  • showing a restricted and developmentally regulated expression in basement membrane of distinct epithelial tissues
  • role of LAMA1 in ocular development (Edwards 2010)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • constituent of cutaneous basement membrane zone
  • complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma), which are bound
  • to each other by disulfide bonds into a cross-shaped
    molecule comprising one long and three short arms with globules at each end
  • LAMA1 is a subunit of laminin 1 (EHS laminin) and laminin 3 (S-laminin)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with TINAGL1, a novel component of the Reichert membrane that interacts with laminin 1(Igarashi 2009)
  • cell & other
    REGULATION
    Other transcription is controlled by a combination of the actions of Sp1/Sp3 and Krüppel-like factors, KLF4 and KLF6
    ASSOCIATED DISORDERS
    corresponding disease(s) PTBHS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    disrupt retinal vascular development and inner limiting membrane formation (Edwards 2010)
    Susceptibility to high myopia (Sasaki 2007)
    Variant & Polymorphism
    Candidate gene candidate genes for human retinal diseases (Edwards 2010)
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    mouse model of retinal vasculopathy, nmf223, characterized clinically by vitreal fibroplasia and vessel tortuosity and reduced electroretinogram responses, and having a missense mutation identified in Lama1 (Edwards 2010)