Lamin B receptor

Lamin B receptor
PDB rendering based on 2dig.
Available structures PDB 2dig
Identifiers
Symbols	LBR; DHCR14B; FLJ43126; LMN2R; MGC9041; PHA
External IDs	OMIM: 600024 MGI: 2138281 HomoloGene: 2455 GeneCards: LBR Gene
Gene Ontology Molecular function • DNA binding • receptor activity • protein binding • lamin binding • delta14-sterol reductase activity • chromo shadow domain binding Cellular component • nucleus • nuclear envelope • nuclear inner membrane • integral to nuclear inner membrane • nuclear pore • membrane • integral to membrane Biological process • cholesterol biosynthetic process Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	3930	98386
Ensembl	ENSG00000143815	ENSMUSG00000004880
UniProt	Q14739	Q811V7
RefSeq (mRNA)	NM_002296.3	NM_133815.2
RefSeq (protein)	NP_002287.2	NP_598576.2
Location (UCSC)	Chr 1: 225.59 – 225.62 Mb	Chr 1: 183.75 – 183.77 Mb
PubMed search	[1]	[2]

Lamin-B receptor is a protein that in humans is encoded by the LBR gene.

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.

Clinical significance

There is evidence tying it to Greenberg dysplasia and Pelger-Huet anomaly.

Interactions

Lamin B receptor has been shown to interact with CBX3 and CBX5.

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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=282492. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2119726. 
• 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 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. PMC 452536. PMID 9003786. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=452536. 
• 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. doi:10.1074/jbc.272.23.14983. 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. 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 et al (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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=148514. 
• 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. 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 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. doi:10.1046/j.0014-2956.2001.02730.x. 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. doi:10.1074/mcp.M200048-MCP200. 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. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 

External links

• MeSH lamin+B+receptor