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FLASH GENE
Symbol LAMB1 contributors: mct - updated : 06-04-2013
HGNC name laminin, beta 1
HGNC id 6486
Corresponding disease
CLM cutis laxa, neonatal, with marfanoid phenotype
COBM1 Cobblestone brain malformation 1
Location 7q31.1      Physical location : 107.564.245 - 107.643.804
Synonym name laminin B1 chain
Synonym symbol(s) MGC142015, CLM, LB1
DNA
TYPE functioning gene
STRUCTURE 79.56 kb     34 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
34 - 5866 - 1786 - -
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularvessel   moderately
Digestivemouth   moderately
Endocrineadrenal gland   highly
Hearing/Equilibriumearinnercochlea predominantly
Nervousbrainhindbraincerebellum highly Mus musculusAdult
 brainlimbic systemhippocampus highly Homo sapiensAdult
Visualeye   lowly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectiveadipose  highly
Epithelialbarrier liningretinal pigment epithelium (RPE) lowly
Muscularstriatumskeletal highly Homo sapiensAdult
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo, fetal, pregnancy
Text during early development in glomerular, perineural, arterial smooth muscle
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a laminin N-terminal domain
  • four laminin A/neurexin/sex hormone-binding (LNS) globular domains
  • 13 laminin 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
  • 13 laminin EGF-like domains
  • a laminin IV type b domain
  • C-terminal region of beta chains is involved in laminin recognition by integrins and modulates the binding affinities of laminins toward X2-type integrins
  • conjugated GlycoP
    mono polymer heteromer , trimer
    HOMOLOGY
    interspecies homolog to rattus Lamb1 (92.66 pc)
    homolog to murine Lamb1-1 (92.67 pc)
    intraspecies homolog to LAMB2
    Homologene
    FAMILY
  • laminins family
  • CATEGORY adhesion
    SUBCELLULAR LOCALIZATION extracellular
    text
  • extracellular matrix
  • localized to the pial basement membrane
  • basic FUNCTION
  • mediating the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix componenents
  • major secreted glycoproteins found in the basal lamina, where they influence cell proliferation, differentiation, migration, and adhesion
  • may play a role in the development of epileptic seizures in patients with intractable epilepsy
  • CELLULAR PROCESS cell life, differentiation
    cell migration & motility
    PHYSIOLOGICAL PROCESS
    text signaling neurite outgrowth
    PATHWAY
    metabolism
    signaling
    a component
  • constituent of basement membrane zone (basal lamina)heterotrimerizing (laminin 1) with laminin alpha 1 and gamma 1
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • was only found associated with heterochromatin
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CLM , COBM1
    Susceptibility to autism (AUTS1)
    Variant & Polymorphism
    Candidate gene for AUTS9
    Marker
    Therapy target
    ANIMAL & CELL MODELS