Lamin B receptor

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Lamin B receptor
PDB rendering based on 2dig.
Available structures: 2dig
Identifiers
Symbol(s) LBR; DHCR14B; LMN2R; MGC9041; PHA
External IDs OMIM: 600024 MGI: 2138281 HomoloGene: 2455
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 3930 98386
Ensembl ENSG00000143815 ENSMUSG00000004880
Uniprot Q14739 Q811V7
Refseq NM_002296 (mRNA)
NP_002287 (protein)		 NM_133815 (mRNA)
NP_598576 (protein)
Location Chr 1: 223.66 - 223.68 Mb Chr 1: 183.65 - 183.68 Mb
Pubmed search [1] [2]

Lamin B receptor, also known as LBR, is a human gene.[1]

The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified.[1]

Contents

[edit] Clinical significance

There is evidence tying it to Greenberg dysplasia[2] and Pelger-Huet anomaly.[3]

[edit] References

  1. ^ a b Entrez Gene: LBR lamin B receptor.
  2. ^ Online 'Mendelian Inheritance in Man' (OMIM) 215140
  3. ^ Online 'Mendelian Inheritance in Man' (OMIM) 169400

[edit] Further reading

  • Worman HJ, Yuan J, Blobel G, Georgatos SD (1988). "A lamin B receptor in the nuclear envelope.". Proc. Natl. Acad. Sci. U.S.A. 85 (22): 8531–4. PMID 2847165. 
  • Soullam B, Worman HJ (1993). "The amino-terminal domain of the lamin B receptor is a nuclear envelope targeting signal.". J. Cell Biol. 120 (5): 1093–100. PMID 7679672. 
  • Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171–4. PMID 8125298. 
  • Ye Q, Worman HJ (1994). "Primary structure analysis and lamin B and DNA binding of human LBR, an integral protein of the nuclear envelope inner membrane.". J. Biol. Chem. 269 (15): 11306–11. PMID 8157662. 
  • Schuler E, Lin F, Worman HJ (1994). "Characterization of the human gene encoding LBR, an integral protein of the nuclear envelope inner membrane.". J. Biol. Chem. 269 (15): 11312–7. PMID 8157663. 
  • Ye Q, Worman HJ (1996). "Interaction between an integral protein of the nuclear envelope inner membrane and human chromodomain proteins homologous to Drosophila HP1.". J. Biol. Chem. 271 (25): 14653–6. PMID 8663349. 
  • Wydner KL, McNeil JA, Lin F, et al. (1997). "Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridization.". Genomics 32 (3): 474–8. doi:10.1006/geno.1996.0146. PMID 8838815. 
  • Pyrpasopoulou A, Meier J, Maison C, et al. (1997). "The lamin B receptor (LBR) provides essential chromatin docking sites at the nuclear envelope.". EMBO J. 15 (24): 7108–19. PMID 9003786. 
  • Ye Q, Callebaut I, Pezhman A, et al. (1997). "Domain-specific interactions of human HP1-type chromodomain proteins and inner nuclear membrane protein LBR.". J. Biol. Chem. 272 (23): 14983–9. PMID 9169472. 
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149–56. PMID 9373149. 
  • Holmer L, Pezhman A, Worman HJ (1999). "The human lamin B receptor/sterol reductase multigene family.". Genomics 54 (3): 469–76. doi:10.1006/geno.1998.5615. PMID 9878250. 
  • Papoutsopoulou S, Nikolakaki E, Giannakouros T (1999). "SRPK1 and LBR protein kinases show identical substrate specificities.". Biochem. Biophys. Res. Commun. 255 (3): 602–7. doi:10.1006/bbrc.1999.0249. PMID 10049757. 
  • Papoutsopoulou S, Nikolakaki E, Chalepakis G, et al. (1999). "SR protein-specific kinase 1 is highly expressed in testis and phosphorylates protamine 1.". Nucleic Acids Res. 27 (14): 2972–80. PMID 10390541. 
  • Bedford MT, Sarbassova D, Xu J, et al. (2000). "A novel pro-Arg motif recognized by WW domains.". J. Biol. Chem. 275 (14): 10359–69. PMID 10744724. 
  • Duband-Goulet I, Courvalin JC (2000). "Inner nuclear membrane protein LBR preferentially interacts with DNA secondary structures and nucleosomal linker.". Biochemistry 39 (21): 6483–8. PMID 10828963. 
  • Martins SB, Eide T, Steen RL, et al. (2001). "HA95 is a protein of the chromatin and nuclear matrix regulating nuclear envelope dynamics.". J. Cell. Sci. 113 Pt 21: 3703–13. PMID 11034899. 
  • Takano M, Takeuchi M, Ito H, et al. (2002). "The binding of lamin B receptor to chromatin is regulated by phosphorylation in the RS region.". Eur. J. Biochem. 269 (3): 943–53. PMID 11846796. 
  • Hoffmann K, Dreger CK, Olins AL, et al. (2002). "Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly).". Nat. Genet. 31 (4): 410–4. doi:10.1038/ng925. PMID 12118250. 
  • Wells L, Vosseller K, Cole RN, et al. (2003). "Mapping sites of O-GlcNAc modification using affinity tags for serine and threonine post-translational modifications.". Mol. Cell Proteomics 1 (10): 791–804. PMID 12438562. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932. 

[edit] External links

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