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FLASH GENE
Symbol LMNB1 contributors: mct/npt/pgu - updated : 04-05-2017
HGNC name lamin B1
HGNC id 6637
Corresponding disease
ADLD leukodystrophy, adult-onset type
MCPH28 microcephaly 28, primary
Location 5q23.2      Physical location : 126.112.832 - 126.172.709
Synonym symbol(s) LMN, LMN2, LMNB, MGC111419, ADLD, LB1
DNA
TYPE functioning gene
STRUCTURE 60.40 kb     11 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 3420 66.4 586 - 2008 18334554
11 - 2267 - 376 - 2008 18334554
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Lymphoid/Immunethymus   highly
Urinarybladder   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow  highly
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal head domain
  • a central rod domain
  • a nuclear localization signal (NLS)
  • C-terminal CAAX motif (posttranslationally modified by farnesylation, endoproteolysis, and carboxymethylation at the CAAX motif)
  • mono polymer homomer , heteromer , tetramer
    HOMOLOGY
    Homologene
    FAMILY
  • intermediate filament family, type V
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    intracellular,nuclear envelope,int
    intracellular,nuclear envelope,lamina
    intracellular,nuclear envelope,matrix attachement regions
    text
  • major structural component of the nucleus that appears to be involved in the regulation of many nuclear functions
  • basic FUNCTION
  • involved in nuclear stability, chromatin structure and gene expression
  • LAMB1-nucleoskeleton is required to maintain RNA synthesis and ongoing synthesis is a fundamental determinant of global nuclear architecture in cells
  • expressed on the cell surface of 24-h aged neutrophils, and apoptotic neutrophils express cytoskeletal proteins on their surface (these cells may participate in the development of autoantibodies directed against cytoskeletal proteins, a condition frequently reported in several inflammatory diseases)
  • lamin B1-containing nucleoskeleton is required to maintain RNA synthesis and ongoing synthesis is a fundamental determinant of global nuclear architecture in mammalian cells
  • maintains the functional plasticity of nucleoli
  • helps to anchor the nucleus to the cytoskeleton
  • could function to sequester microtubule polymerization activities within the spindle
  • component of nuclear lamina which is a filamentous meshwork of proteins underlying the inner nuclear membrane
  • importance of LMNB1 in regulating the proliferation and senescence of human diploid cells through a ROS signaling pathway
  • LMNB1 mRNA, and subsequent protein, decline in senescent cells is likely due at least in part to reduced LMNB1 mRNA stability
  • farnesylation of LMNB1--but not LMNB2--is crucial for brain development and for retaining chromatin within the bounds of the nuclear lamina during neuronal migration
  • may contribute to senescence in at least two ways due to its uneven genome-wide redistribution: first, through the spatial reorganization of chromatin and, second, through gene repression
  • constitutes one of the major structural proteins in the lamina mesh
  • is likely required to maintain chromatin condensation in interphase nuclei
  • maintenance of LMNB1 levels is required for DNA replication and repair through regulation of the expression of key factors involved in these essential nuclear functions
  • component of the nuclear lamina that plays a critical role in maintaining nuclear architecture, regulating gene expression and modulating chromatin positioning
  • LMNA, LMNB1, LMNB2 not only constitute a scaffold for nuclear shape, rigidity and resistance to stress but also contribute to the organization of chromatin and chromosomal domains
  • LMNB1 is required for neural stem cells (NSCs) to differentiate in proper numbers of neurons and express cell-type specific genes during corticogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • coiled coil dimers associated to form a tetrameric subunit from which Ifs assemble
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with POU2F1 (POU2F1 has previously been shown to colocalize partly with B-type lamins and is essential for transcriptional regulation of oxidative stress response genes)
  • interaction with KIF11 (LMNB1 only very weakly antagonizes KIF11 in mediating poleward microtubule-flux (
  • only LMNB1 overexpression induced senescence, which was prevented by telomerase expression or inactivation of TP53
  • interacts directly with the promoters of some genes associated with DNA damage response and repair, including BRCA1 and RAD51
  • autophagy protein MAP1LC3A/Atg8 directly interacts with the nuclear lamina protein LMNB1 (lamin B1), and binds to LMN/lamin-associated chromatin domains (LADs)
  • cell & other
    REGULATION
    Other diassembly at the start and reassembly at the end of mitosis mediated by phosphorylation,dephosphorylation
    ASSOCIATED DISORDERS
    corresponding disease(s) ADLD , MCPH28
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    depletion of LMNB1 or LMNA/Cwas sufficient to recapitulate some oncogene-induced senescence (OIS) features, including cell cycle exit and downregulation of nuclear envelope (NE) proteins 7)
    tumoral     --over  
    is directly associated with low-grade differentiation, increased incidence of distant metastasis, and poor prognosis of patients with pancreatic cancer
    constitutional       loss of function
    significantly impairs corticogenesis and neurogenesis during embryonic development
    Susceptibility to multiple sclerosis
    Variant & Polymorphism other linked to the autoimmune attack that occurs in multiple sclerosis
    Candidate gene
    Marker lamin B1 loss can serve as biomarker of senescence, and LMNB1 decline may be useful as an early senescenceľassociated marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerendocrinepancreas
    is a novel therapeutic target of betulinic acid treatment in pancreatic carcinoma
    ANIMAL & CELL MODELS
  • mice that lack a functional Lmnb1 gene die minutes after birth, and fibroblasts from these mice have misshapen nuclei and undergo premature senescence in culture
  • mice expressing nonfarnesylated LmnB1 died soon after birth, with severe neurodevelopmental defects and striking nuclear abnormalities in neurons