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FLASH GENE
Symbol LAMA1 contributors: mct/npt - updated : 23-06-2010
HGNC name laminin, alpha 1
HGNC id 6481
Corresponding disease
PTBHS Poretti-Boltshauser syndrome
Location 18p11.31      Physical location : 6.941.887 - 7.117.813
Synonym name
  • laminin A chain
  • S-laminin subunit alpha
  • laminin-3 subunit alpha
  • Synonym symbol(s) LAMA
    DNA
    TYPE functioning gene
    STRUCTURE 175.93 kb     63 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    Binding site   transcription factor
    text structure
  • an Sp1-binding GC box and a Kruppel-like element, was important for the promoter activity
  • contains a number of GC- and GT/A-rich motifs for the binding of the Sp family of transcription factors
  • MAPPING cloned Y linked N status provisional
    Physical map
    LOC390826 18 similar to peptidyl-Pro cis trans isomerase LOC390827 18 similar to hypothetical protein BC007436 MGC17515 18p11.31 hypothetical protein MGC17515 ZFP161 18p11.32-p11.21 zinc finger protein 161 homolog (mouse) EPB41L3 18p11.32 erythrocyte membrane protein band 4.1-like 3 LOC388459 18 LOC388459 FLJ35936 18p11.31-p11.23 hypothetical protein FLJ35936 LOC388460 18 similar to 60S ribosomal protein L6 (TAX-responsive enhancer element binding protein 107) (TAXREB107) (Neoplasm-related protein C140) LOC388461 18 LOC388461 LOC388462 18 similar to KIAA1314 protein LAMA1 18p11.32-p11.22 laminin, alpha 1 LOC390828 18 similar to mitochondrial carrier triple repeat 1 LOC339291 18p11.23 similar to RIKEN cDNA 2610040E16 PTPRM 18p11.2 protein tyrosine phosphatase, receptor type, M FLJ11996 18p11.22 hypothetical protein FLJ11996 LOC125831 18p11.22 similar to constitutive photomorphogenic protein LOC390829 18 similar to Aldose reductase (AR) (Aldehyde reductase) LOC201475 18p11.22 similar to Rab12 protein KIAA0802 18p11.21 similar to Rab12 protein LOC390830 18 similar to ribosomal protein S4, X-linked NDUFV2 18p11.22-p11.21 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa KIAA0874 TWSG1 18p11.3-p11.2 twisted gastrulation homolog 1 (Drosophila) RALBP1 18p11.3 ralA binding protein 1 PPP4R1 18p11.22 protein phosphatase 4, regulatory subunit 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    63 - 9530 - 3075 - 1999 10341208
    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)