Lamin B receptor

Lamin B receptor
PDB rendering based on 2dig.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2DIG​
Identifiers
Symbols	LBR ; DHCR14B; LMN2R; PHA; TDRD18
External IDs	OMIM: 600024 MGI: 2138281 HomoloGene: 2455 GeneCards: LBR Gene
Gene ontology Molecular function • DNA binding • protein binding • lamin binding • oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor • poly(A) RNA binding • chromo shadow domain binding Cellular component • nuclear envelope • integral component of nuclear inner membrane • membrane • integral component of membrane • nuclear membrane Biological process • cholesterol biosynthetic process • small molecule metabolic process • oxidation-reduction process Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	3930	98386
Ensembl	ENSG00000143815	ENSMUSG00000004880
UniProt	Q14739	Q3U9G9
RefSeq (mRNA)	NM_002296	NM_133815
RefSeq (protein)	NP_002287	NP_598576
Location (UCSC)	Chr 1: 225.4 – 225.43 Mb	Chr 1: 181.82 – 181.84 Mb
PubMed search

Lamin-B receptor is a protein that in humans 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 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]

References

1. 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.
2. 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.
3. "Entrez Gene: LBR lamin B receptor".
4. Online 'Mendelian Inheritance in Man' (OMIM) 215140
5. Online 'Mendelian Inheritance in Man' (OMIM) 169400
6. 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.

External links

• lamin B receptor at the US National Library of Medicine Medical Subject Headings (MeSH)