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FLASH GENE
Symbol LBR contributors: mct/npt - updated : 05-03-2017
HGNC name lamin B receptor
HGNC id 6518
Corresponding disease
HEMSK hydrops-ectopic calcification -Moth-Eaten skeletal dysplasia
PHA Pelger-Huet anomaly
RS Reynolds syndrome
Location 1q42.12      Physical location : 225.589.204 - 225.616.519
Synonym name
  • integral nuclear envelope inner membrane protein
  • tudor domain containing 18
  • Synonym symbol(s) PHA, LMN2R, DHCR14B, LMN2R, MGC9041, PRO0650, TDRD18
    DNA
    TYPE functioning gene
    STRUCTURE 27.32 kb     14 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    text variant 1 and 2 encode the same protein
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 3806 - 615 - 2005 15882967
    also called variant 1/isoform 1
    14 - 3789 - 615 - 2005 15882967
    also called variant 2/isoform 1
    - - 1663 - 115 - 2005 15882967
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Lymphoid/Immunelymph node   highly
     thymus   highly
    Reproductivefemale systemuterus  highly
     male systemtestis  highly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/lining   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES Hydrophobic
    STRUCTURE
    motifs/domains
  • N terminal hydrophilic nucleoplasmic domain
  • a hydrophobic domain with eight transmembrane segments, projecting into the nucleoplasm and binding to both B-type lamins and chromatin proteins
  • first transmembrane domain promotes the LBR-bearing membrane production and the nuclear envelope expansion in interphase
  • a lamin B binding
  • a tudor (TD) domain (AAs 1-62) that primarily recognizes histone H4 lysine 20 dimethylation and is essential for chromatin compaction,
  • a whole nucleoplasmic region (AAs 1-211) is required for transcriptional repression , and TD/RS interface may potentially operate as a "histone chaperone-like platform"
  • a sterol reductase like C-terminal domain having two functional domains: a highly homologous to sterol reductases and encoding sterol 14-reductase activity, playing a critical role in cholesterol biosynthesis, process essential to both myeloid cell growth and functional maturation
  • HOMOLOGY
    Homologene
    FAMILY
  • LAP2 (lamina-associated protein 2) family
  • ERG4/ERG24 family
  • CATEGORY receptor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,nuclear envelope,int
    text
  • integral protein of the nuclear enveloppe inner membrane, binding the lamina to heterochromatin
  • integral membrane protein of the interphase nuclear envelope (NE)
  • basic FUNCTION
  • binding the lamina and the heterochromatin to the inner nuclear membrane
  • can interact with chromodomain proteins
  • bifunctional protein involved in nuclear organization and chromatin binding
  • playing an important role in targeting the nuclear envelope to chromatin in an importin beta-mediated process
  • integral nuclear envelope protein that interacts with chromatin and has homology to sterol reductases
  • possible mechanism involving PPP1CC and LBR for the regulation of nuclear membrane targeting to chromatin
  • recruited to chromatin through direct interaction with importin beta to contribute to the fusion of membrane vesicles and formation of the nuclear envelope
  • likely roles in post-mitotic nuclear reformation, interphase nuclear envelope growth and compartmentalization of nuclear architecture might have provided some evolutionary advantage to preservation of the LBR gene
  • polytopic protein of the nuclear envelope thought to connect the inner nuclear membrane with the underlying nuclear lamina and peripheral heterochromatin
  • plays a critical role in regulating myeloid differentiation
  • classical inner nuclear membrane protein that associates with heterochromatin
  • LMNA and LBR sequentially tether peripheral heterochromatin and inversely regulate differentiation
  • contributes to the functional integrity of the nucleus by tethering heterochromatin to the nuclear envelope
  • LBR possesses a modular structure and corresponding bifunctionality, acting in heterochromatin organization via its N-terminus and in cholesterol biosynthesis via its sterol-reductase C-terminal domain
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • constituent of nuclear inner membrane
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds both chromatin and lamin B as part of a meshwork of intermediate filament proteins known as the nuclear lamina
  • interacting with CBX5
  • interacting with CEBPE (transcriptional regulation of CEBPE, is necessary for morphological but not necessarily functional granulocyte maturation)
  • the N-terminal domain of LBR directly interacts with importin beta (KPNB1) in a Ran sensitive and importin alpha independent manner
  • MECP2 interacts with the inner nuclear membrane protein LBR and that the unstructured aminoacidic sequence linking the MBD and TRD domains of MECP2 is responsible for this association
  • targets the membrane precursor vesicles to chromatin by interacting with KPNB1 in a LBR phosphorylation-dependent manner during the NE assembly at the end of mitosis
  • nucleoporin AHCTF1, which is crucial for postmitotic NPC formation, is essential for recruiting the LBR to the chromosomal noncore region
  • depletion of AHCTF1 promoted LBR phosphorylation at the residues known to be phosphorylated by cyclin-dependent kinase (CDK) and serine/arginine protein kinases 1 and 2 (SRPK1 and SRPK2, respectively)
  • TMEM147 physically interacts with LBR, and the C-terminus of LBR is essential for their functional interaction
  • at the nuclear envelope, TMEM147 interacts with the C-terminal domain of the lamin B receptor (LBR), anchoring it to the inner membrane
  • cell & other
    REGULATION
    Phosphorylated by CDK1 (phosphorylation of LBR by CDK1 contributes to the temporal control)
    ASSOCIATED DISORDERS
    corresponding disease(s) PHA , HEMSK , RS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    affects not only nuclear architecture but also proliferation, cell viability, and gene expression of hematopoietic cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS