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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
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
Physical map
FLJ11785 7q22.2 Rad50-interacting protein 1 LOC389547 7 hypothetical gene supported by M24070; NM_004559 KIAA1218 7q22.1 hypothetical gene supported by M24070; NM_004559 MGC33190 7q22.2 hypothetical protein MGC33190 FLJ23834 7q22.2 hypothetical protein FLJ23834 SYPL 7q22.1-q31.1 synaptophysin-like protein LOC392089 7 similar to DKFZP564O0463 protein; HSPC064 protein PBEF 7q11.23 similar to DKFZP564O0463 protein; HSPC064 protein FLJ36031 7q22.2 hypothetical protein FLJ36031 PIK3CG 7q21.11 phosphoinositide-3-kinase, catalytic, gamma polypeptide PRKAR2B 7q22-q31.1 protein kinase, cAMP-dependent, regulatory, type II, beta HBP1 7q22-q31 HMG-box transcription factor 1 COG5 7q31 component of oligomeric golgi complex 5 GPR22 7q22-q31.1 G protein-coupled receptor 22 PP35 7q22-q31 protein similar to E.coli yhdg and R. capsulatus nifR3 BCAP29 7q22-q31 B-cell receptor-associated protein 29 SLC26A4 7q31.1 solute carrier family 26, member 4 CBLL1 7q22.3 Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1 SLC26A3 7q33 solute carrier family 26, member 3 DLD 7q31-q32 dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex) LAMB1 7q22.1 laminin, beta 1 LAMB4 7q22-q31.2 laminin, beta 4 NRCAM 7q31.1-q31.2 neuronal cell adhesion molecule IPLA2(GAMMA) 7q31 intracellular membrane-associated calcium-independent phospholipase A2 gamma THAP5 7q22.3 THAP domain containing 5 DNAJB9 14q24.2-q24.3 DnaJ (Hsp40) homolog, subfamily B, member 9 LOC154907 7q22.3 hypothetical LOC154907 LOC392090 7 similar to TGF-beta receptor binding protein LOC392091 7 similar to ribosomal protein L3; 60S ribosomal protein L3; HIV-1 TAR RNA-binding protein B
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
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CLM
    Susceptibility to autism (AUTS1)
    Variant & Polymorphism
    Candidate gene for AUTS9
    Marker
    Therapy target
    ANIMAL & CELL MODELS