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FLASH GENE
Symbol LBR contributors: mct/npt - updated : 05-03-2013
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
    Physical map
    LOC388743 1 similar to calpain 8 CAPN2 1q41-q42 calpain 2, (m/II) large subunit TP53BP2 1q42.1 tumor protein p53 binding protein, 2 LOC391167 1 similar to prohibitin LOC343354 1q42.12 similar to beta actin LOC388744 1 similar to bA476I15.3 (novel protein similar to septin) LOC388745 1 LOC388745 LOC347813 1q42.12 hypothetical protein LOC347813 KIAA0483 1q42.12 KIAA0483 protein LOC388746 1 LOC388746 DEGS 1q41 degenerative spermatocyte homolog, lipid desaturase (Drosophila) NVL 1q41-q42.2 nuclear VCP-like HSPC163 1q42.12 HSPC163 protein WDR26 1q42.12-q42.13 WD repeat domain 26 FLJ38993 1q42.13 hypothetical protein FLJ38993 MGC27277 1q42.13 hypothetical protein MGC27277 LOC388747 1 similar to RIKEN cDNA A230079K17 LOC127602 1q42.13 similar to KIAA1697 protein LBR 1q42.1 lamin B receptor ENAH 1q41 enabled homolog (Drosophila) SRP9 1q42.13 signal recognition particle 9kDa LEFTY3 1q42.1 LEFTY family pseudogene EPHX1 1q42.1 epoxide hydrolase 1, microsomal (xenobiotic) KIAA0792 1q42.13 epoxide hydrolase 1, microsomal (xenobiotic) LEFTB 1q42.1 left-right determination, factor B P5CR2 1q42.13 pyrroline 5-carboxylate reductase isoform EBAF 1q42.1 endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily) FLJ35382 1q42.13 hypothetical protein FLJ35382 H3F3A 1q41 H3 histone, family 3A ACBD3 1q42.13 acyl-Coenzyme A binding domain containing 3 MIXL1 1q41 Mix1 homeobox-like 1 (Xenopus laevis) TGS 1q42.13 TUDOR gene similar ADPRT 1q42 ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase) LOC391168 1 similar to ribosomal protein S3a; 40S ribosomal protein S3a; v-fos transformation effector protein 1 LOC391169 1 similar to hypothetical protein D11Ertd497e LOC388748 1 LOC388748 LOC388749 1 LOC388749 ITPKB 1q41-q42 inositol 1,4,5-trisphosphate 3-kinase B LOC391170 1 similar to hypothetical protein PSEN2 1q42.1 presenilin 2 (Alzheimer disease 4) CABC1 1q42.11 chaperone, ABC1 activity of bc1 complex like (S. pombe) CDC42BPA 1q42.11 CDC42 binding protein kinase alpha (DMPK-like)
    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
  • 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
  • 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