Lamin B receptor

{{Short description|Protein-coding gene in the species Homo sapiens}}

{{Infobox_gene}}

Lamin-B receptor is a protein, and in humans, it is encoded by the LBR gene.{{cite journal | vauthors = Schuler E, Lin F, Worman HJ | title = Characterization of the human gene encoding LBR, an integral protein of the nuclear envelope inner membrane | journal = The Journal of Biological Chemistry | volume = 269 | issue = 15 | pages = 11312–7 | date = April 1994 | doi = 10.1016/S0021-9258(19)78127-7 | pmid = 8157663 | doi-access = free }}{{cite journal | vauthors = Holmer L, Pezhman A, Worman HJ | title = The human lamin B receptor/sterol reductase multigene family | journal = Genomics | volume = 54 | issue = 3 | pages = 469–76 | date = December 1998 | pmid = 9878250 | doi = 10.1006/geno.1998.5615 | doi-access = free }}{{cite web | title = Entrez Gene: LBR lamin B receptor| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3930}}

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.

Clinical significance

There is evidence tying it to Greenberg dysplasia{{OMIM|215140}} and Pelger-Huet anomaly.{{OMIM|169400}}

Interactions

Lamin B receptor has been shown to interact with CBX3{{cite journal | vauthors = Ye Q, Worman HJ | title = Interaction between an integral protein of the nuclear envelope inner membrane and human chromodomain proteins homologous to Drosophila HP1 | journal = The Journal of Biological Chemistry | volume = 271 | issue = 25 | pages = 14653–6 | date = June 1996 | pmid = 8663349 | doi = 10.1074/jbc.271.25.14653 | doi-access = free }} and CBX5. 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,{{cite journal | vauthors = Chen CK, Blanco M, Jackson C, Aznauryan E, Ollikainen N, Surka C, Chow A, Cerase A, McDonel P, Guttman M | title = Xist recruits the X chromosome to the nuclear lamina to enable chromosome-wide silencing | journal = Science | volume = 354 | issue = 6311 | pages = 468–472 | date = October 2016 | pmid = 27492478 | doi = 10.1126/science.aae0047 | bibcode = 2016Sci...354..468C | doi-access = free }} but it might be redundant for correct XCI in vivo.{{Cite journal |last1=Young |first1=Alexander Neil |last2=Perlas |first2=Emerald |last3=Ruiz-Blanes |first3=Nerea |last4=Hierholzer |first4=Andreas |last5=Pomella |first5=Nicola |last6=Martin-Martin |first6=Belen |last7=Liverziani |first7=Alessandra |last8=Jachowicz |first8=Joanna W. |last9=Giannakouros |first9=Thomas |last10=Cerase |first10=Andrea |date=2021-04-12 |title=Deletion of LBR N-terminal domains recapitulates Pelger-Huet anomaly phenotypes in mouse without disrupting X chromosome inactivation |url=http://dx.doi.org/10.1038/s42003-021-01944-2 |journal=Communications Biology |volume=4 |issue=1 |page=478 |doi=10.1038/s42003-021-01944-2 |pmid=33846535 |pmc=8041748 |issn=2399-3642}}

References

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Further reading

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  • {{cite journal | vauthors = Worman HJ, Yuan J, Blobel G, Georgatos SD | title = A lamin B receptor in the nuclear envelope | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 85 | issue = 22 | pages = 8531–4 | date = November 1988 | pmid = 2847165 | pmc = 282492 | doi = 10.1073/pnas.85.22.8531 | bibcode = 1988PNAS...85.8531W | doi-access = free }}
  • {{cite journal | vauthors = Soullam B, Worman HJ | title = The amino-terminal domain of the lamin B receptor is a nuclear envelope targeting signal | journal = The Journal of Cell Biology | volume = 120 | issue = 5 | pages = 1093–100 | date = March 1993 | pmid = 7679672 | pmc = 2119726 | doi = 10.1083/jcb.120.5.1093 }}
  • {{cite journal | vauthors = Maruyama K, Sugano S | title = Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides | journal = Gene | volume = 138 | issue = 1–2 | pages = 171–4 | date = January 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }}
  • {{cite journal | vauthors = Ye Q, Worman HJ | title = Primary structure analysis and lamin B and DNA binding of human LBR, an integral protein of the nuclear envelope inner membrane | journal = The Journal of Biological Chemistry | volume = 269 | issue = 15 | pages = 11306–11 | date = April 1994 | doi = 10.1016/S0021-9258(19)78126-5 | pmid = 8157662 | doi-access = free }}
  • {{cite journal | vauthors = Ye Q, Worman HJ | title = Interaction between an integral protein of the nuclear envelope inner membrane and human chromodomain proteins homologous to Drosophila HP1 | journal = The Journal of Biological Chemistry | volume = 271 | issue = 25 | pages = 14653–6 | date = June 1996 | pmid = 8663349 | doi = 10.1074/jbc.271.25.14653 | doi-access = free }}
  • {{cite journal | vauthors = Wydner KL, McNeil JA, Lin F, Worman HJ, Lawrence JB | title = Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridization | journal = Genomics | volume = 32 | issue = 3 | pages = 474–8 | date = March 1996 | pmid = 8838815 | doi = 10.1006/geno.1996.0146 | doi-access = free }}
  • {{cite journal | vauthors = Pyrpasopoulou A, Meier J, Maison C, Simos G, Georgatos SD | title = The lamin B receptor (LBR) provides essential chromatin docking sites at the nuclear envelope | journal = The EMBO Journal | volume = 15 | issue = 24 | pages = 7108–19 | date = December 1996 | pmid = 9003786 | pmc = 452536 | doi = 10.1002/j.1460-2075.1996.tb01102.x}}
  • {{cite journal | vauthors = Ye Q, Callebaut I, Pezhman A, Courvalin JC, Worman HJ | title = Domain-specific interactions of human HP1-type chromodomain proteins and inner nuclear membrane protein LBR | journal = The Journal of Biological Chemistry | volume = 272 | issue = 23 | pages = 14983–9 | date = June 1997 | pmid = 9169472 | doi = 10.1074/jbc.272.23.14983 | doi-access = free }}
  • {{cite journal | vauthors = Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S | title = Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library | journal = Gene | volume = 200 | issue = 1–2 | pages = 149–56 | date = October 1997 | pmid = 9373149 | doi = 10.1016/S0378-1119(97)00411-3 }}
  • {{cite journal | vauthors = Papoutsopoulou S, Nikolakaki E, Giannakouros T | title = SRPK1 and LBR protein kinases show identical substrate specificities | journal = Biochemical and Biophysical Research Communications | volume = 255 | issue = 3 | pages = 602–7 | date = February 1999 | pmid = 10049757 | doi = 10.1006/bbrc.1999.0249 }}
  • {{cite journal | vauthors = Papoutsopoulou S, Nikolakaki E, Chalepakis G, Kruft V, Chevaillier P, Giannakouros T | title = SR protein-specific kinase 1 is highly expressed in testis and phosphorylates protamine 1 | journal = Nucleic Acids Research | volume = 27 | issue = 14 | pages = 2972–80 | date = July 1999 | pmid = 10390541 | pmc = 148514 | doi = 10.1093/nar/27.14.2972 }}
  • {{cite journal | vauthors = Bedford MT, Sarbassova D, Xu J, Leder P, Yaffe MB | title = A novel pro-Arg motif recognized by WW domains | journal = The Journal of Biological Chemistry | volume = 275 | issue = 14 | pages = 10359–69 | date = April 2000 | pmid = 10744724 | doi = 10.1074/jbc.275.14.10359 | doi-access = free }}
  • {{cite journal | vauthors = Duband-Goulet I, Courvalin JC | title = Inner nuclear membrane protein LBR preferentially interacts with DNA secondary structures and nucleosomal linker | journal = Biochemistry | volume = 39 | issue = 21 | pages = 6483–8 | date = May 2000 | pmid = 10828963 | doi = 10.1021/bi992908b }}
  • {{cite journal | vauthors = Martins SB, Eide T, Steen RL, Jahnsen T, Skålhegg BS, Collas P | title = HA95 is a protein of the chromatin and nuclear matrix regulating nuclear envelope dynamics | journal = Journal of Cell Science | volume = 113 Pt 21 | pages = 3703–13 | date = November 2000 | issue = 21 | doi = 10.1242/jcs.113.21.3703 | pmid = 11034899 | doi-access = free }}
  • {{cite journal | vauthors = Takano M, Takeuchi M, Ito H, Furukawa K, Sugimoto K, Omata S, Horigome T | title = The binding of lamin B receptor to chromatin is regulated by phosphorylation in the RS region | journal = European Journal of Biochemistry | volume = 269 | issue = 3 | pages = 943–53 | date = February 2002 | pmid = 11846796 | doi = 10.1046/j.0014-2956.2001.02730.x | doi-access = free }}
  • {{cite journal | vauthors = 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 | title = Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly) | journal = Nature Genetics | volume = 31 | issue = 4 | pages = 410–4 | date = August 2002 | pmid = 12118250 | doi = 10.1038/ng925 | s2cid = 6020153 }}
  • {{cite journal | vauthors = Wells L, Vosseller K, Cole RN, Cronshaw JM, Matunis MJ, Hart GW | title = Mapping sites of O-GlcNAc modification using affinity tags for serine and threonine post-translational modifications | journal = Molecular & Cellular Proteomics | volume = 1 | issue = 10 | pages = 791–804 | date = October 2002 | pmid = 12438562 | doi = 10.1074/mcp.M200048-MCP200 | doi-access = free }}

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