Biology:Lamin B receptor
Generic protein structure example |
Lamin-B receptor is a protein, and in humans, it is encoded by the LBR gene.[1][2][3]
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 the 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.[3]
Clinical significance
There is evidence tying it to Greenberg dysplasia[4] and Pelger-Huet anomaly.[5]
Interactions
Lamin B receptor has been shown to interact with CBX3[6] and CBX5.[6] LBR also interacts with long non-coding RNA XIST in mouse cells and potentially assist the spreading XIST across X chromosome in differentiating female embryonic stem cells,[7] but it might be redundant for correct XCI in vivo.[8]
References
- ↑ "Characterization of the human gene encoding LBR, an integral protein of the nuclear envelope inner membrane". The Journal of Biological Chemistry 269 (15): 11312–7. April 1994. doi:10.1016/S0021-9258(19)78127-7. PMID 8157663.
- ↑ "The human lamin B receptor/sterol reductase multigene family". Genomics 54 (3): 469–76. December 1998. doi:10.1006/geno.1998.5615. PMID 9878250.
- ↑ 3.0 3.1 "Entrez Gene: LBR lamin B receptor". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3930.
- ↑ Online Mendelian Inheritance in Man (OMIM) 215140
- ↑ Online Mendelian Inheritance in Man (OMIM) 169400
- ↑ 6.0 6.1 "Interaction between an integral protein of the nuclear envelope inner membrane and human chromodomain proteins homologous to Drosophila HP1". The Journal of Biological Chemistry 271 (25): 14653–6. June 1996. doi:10.1074/jbc.271.25.14653. PMID 8663349.
- ↑ "Xist recruits the X chromosome to the nuclear lamina to enable chromosome-wide silencing". Science 354 (6311): 468–472. October 2016. doi:10.1126/science.aae0047. PMID 27492478. Bibcode: 2016Sci...354..468C.
- ↑ Young, Alexander Neil; Perlas, Emerald; Ruiz-Blanes, Nerea; Hierholzer, Andreas; Pomella, Nicola; Martin-Martin, Belen; Liverziani, Alessandra; Jachowicz, Joanna W. et al. (2021-04-12). "Deletion of LBR N-terminal domains recapitulates Pelger-Huet anomaly phenotypes in mouse without disrupting X chromosome inactivation". Communications Biology 4 (1): 478. doi:10.1038/s42003-021-01944-2. ISSN 2399-3642. PMID 33846535. PMC 8041748. http://dx.doi.org/10.1038/s42003-021-01944-2.
Further reading
- "A lamin B receptor in the nuclear envelope". Proceedings of the National Academy of Sciences of the United States of America 85 (22): 8531–4. November 1988. doi:10.1073/pnas.85.22.8531. PMID 2847165. Bibcode: 1988PNAS...85.8531W.
- "The amino-terminal domain of the lamin B receptor is a nuclear envelope targeting signal". The Journal of Cell Biology 120 (5): 1093–100. March 1993. doi:10.1083/jcb.120.5.1093. PMID 7679672.
- "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. January 1994. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- "Primary structure analysis and lamin B and DNA binding of human LBR, an integral protein of the nuclear envelope inner membrane". The Journal of Biological Chemistry 269 (15): 11306–11. April 1994. doi:10.1016/S0021-9258(19)78126-5. PMID 8157662.
- "Interaction between an integral protein of the nuclear envelope inner membrane and human chromodomain proteins homologous to Drosophila HP1". The Journal of Biological Chemistry 271 (25): 14653–6. June 1996. doi:10.1074/jbc.271.25.14653. PMID 8663349.
- "Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridization". Genomics 32 (3): 474–8. March 1996. doi:10.1006/geno.1996.0146. PMID 8838815.
- "The lamin B receptor (LBR) provides essential chromatin docking sites at the nuclear envelope". The EMBO Journal 15 (24): 7108–19. December 1996. doi:10.1002/j.1460-2075.1996.tb01102.x. PMID 9003786.
- "Domain-specific interactions of human HP1-type chromodomain proteins and inner nuclear membrane protein LBR". The Journal of Biological Chemistry 272 (23): 14983–9. June 1997. doi:10.1074/jbc.272.23.14983. PMID 9169472.
- "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. October 1997. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- "SRPK1 and LBR protein kinases show identical substrate specificities". Biochemical and Biophysical Research Communications 255 (3): 602–7. February 1999. doi:10.1006/bbrc.1999.0249. PMID 10049757.
- "SR protein-specific kinase 1 is highly expressed in testis and phosphorylates protamine 1". Nucleic Acids Research 27 (14): 2972–80. July 1999. doi:10.1093/nar/27.14.2972. PMID 10390541.
- "A novel pro-Arg motif recognized by WW domains". The Journal of Biological Chemistry 275 (14): 10359–69. April 2000. doi:10.1074/jbc.275.14.10359. PMID 10744724.
- "Inner nuclear membrane protein LBR preferentially interacts with DNA secondary structures and nucleosomal linker". Biochemistry 39 (21): 6483–8. May 2000. doi:10.1021/bi992908b. PMID 10828963.
- "HA95 is a protein of the chromatin and nuclear matrix regulating nuclear envelope dynamics". Journal of Cell Science 113 Pt 21 (21): 3703–13. November 2000. doi:10.1242/jcs.113.21.3703. PMID 11034899.
- "The binding of lamin B receptor to chromatin is regulated by phosphorylation in the RS region". European Journal of Biochemistry 269 (3): 943–53. February 2002. doi:10.1046/j.0014-2956.2001.02730.x. PMID 11846796.
- "Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly)". Nature Genetics 31 (4): 410–4. August 2002. doi:10.1038/ng925. PMID 12118250.
- "Mapping sites of O-GlcNAc modification using affinity tags for serine and threonine post-translational modifications". Molecular & Cellular Proteomics 1 (10): 791–804. October 2002. doi:10.1074/mcp.M200048-MCP200. PMID 12438562.
External links
- lamin+B+receptor at the US National Library of Medicine Medical Subject Headings (MeSH)
Original source: https://en.wikipedia.org/wiki/Lamin B receptor.
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