Lamin B receptor
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Lamin-B receptor is a protein that in humans is encoded by the LBR gene.[3][4][5]
Function
The protein encoded by this gene belongs to the ERG4/ERG24 family. It localizes to the inner membrane of the nuclear envelope 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.[5]
Clinical significance
There is evidence tying it to Greenberg dysplasia[6] and Pelger-Huet anomaly.[7]
Interactions
Lamin B receptor has been shown to interact with CBX3[8] and CBX5.[8]
References
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- ↑ Schuler E, Lin F, Worman HJ (May 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.
- ↑ Holmer L, Pezhman A, Worman HJ (15 December 1998). "The human lamin B receptor/sterol reductase multigene family". Genomics. 54 (3): 469–76. doi:10.1006/geno.1998.5615. PMID 9878250.
- 1 2 "Entrez Gene: LBR lamin B receptor".
- ↑ Online Mendelian Inheritance in Man (OMIM) 215140
- ↑ Online Mendelian Inheritance in Man (OMIM) 169400
- 1 2 Ye Q, Worman HJ (Jun 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. doi:10.1074/jbc.271.25.14653. PMID 8663349.
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. doi:10.1073/pnas.85.22.8531. PMC 282492
. 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. doi:10.1083/jcb.120.5.1093. PMC 2119726. 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. doi:10.1016/0378-1119(94)90802-8. 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.
- 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. doi:10.1074/jbc.271.25.14653. PMID 8663349.
- Wydner KL, McNeil JA, Lin F, Worman HJ, Lawrence JB (1996). "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, Simos G, Georgatos SD (1996). "The lamin B receptor (LBR) provides essential chromatin docking sites at the nuclear envelope". EMBO J. 15 (24): 7108–19. PMC 452536. PMID 9003786.
- Ye Q, Callebaut I, Pezhman A, Courvalin JC, Worman HJ (1997). "Domain-specific interactions of human HP1-type chromodomain proteins and inner nuclear membrane protein LBR". J. Biol. Chem. 272 (23): 14983–9. doi:10.1074/jbc.272.23.14983. PMID 9169472.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1-2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- 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, Kruft V, Chevaillier P, Giannakouros T (1999). "SR protein-specific kinase 1 is highly expressed in testis and phosphorylates protamine 1". Nucleic Acids Res. 27 (14): 2972–80. doi:10.1093/nar/27.14.2972. PMC 148514. PMID 10390541.
- Bedford MT, Sarbassova D, Xu J, Leder P, Yaffe MB (2000). "A novel pro-Arg motif recognized by WW domains". J. Biol. Chem. 275 (14): 10359–69. doi:10.1074/jbc.275.14.10359. 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. doi:10.1021/bi992908b. PMID 10828963.
- Martins SB, Eide T, Steen RL, Jahnsen T, Skålhegg BS, Collas P (2000). "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, Furukawa K, Sugimoto K, Omata S, Horigome T (2002). "The binding of lamin B receptor to chromatin is regulated by phosphorylation in the RS region". Eur. J. Biochem. 269 (3): 943–53. doi:10.1046/j.0014-2956.2001.02730.x. PMID 11846796.
- Hoffmann K, Dreger CK, Olins AL, Olins DE, Shultz LD, Lucke B, Karl H, Kaps R, Müller D, Vayá A, Aznar J, Ware RE, Sotelo Cruz N, Lindner TH, Herrmann H, Reis A, Sperling K (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, Cronshaw JM, Matunis MJ, Hart GW (2002). "Mapping sites of O-GlcNAc modification using affinity tags for serine and threonine post-translational modifications". Mol. Cell Proteomics. 1 (10): 791–804. doi:10.1074/mcp.M200048-MCP200. PMID 12438562.
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External links
- lamin B receptor at the US National Library of Medicine Medical Subject Headings (MeSH)
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