Protein-coding gene in the species Homo sapiens
| LBR |
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| Available structures |
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| PDB | Ortholog search: C9JXK0 PDBe C9JXK0 RCSB |
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| Identifiers |
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| Aliases | LBR, DHCR14B, LMN2R, PHA, TDRD18, lamin B receptor, PHASK, C14SR |
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| External IDs | OMIM: 600024; MGI: 2138281; HomoloGene: 2455; GeneCards: LBR; OMA:LBR - orthologs |
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| Gene location (Human) |
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 | | Chr. | Chromosome 1 (human)[1] |
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| | Band | 1q42.12 | Start | 225,401,502 bp[1] |
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| End | 225,428,925 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 1 (mouse)[2] |
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| | Band | 1 H5|1 84.89 cM | Start | 181,642,900 bp[2] |
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| End | 181,670,611 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| Top expressed in | - trabecular bone
- bone marrow
- thymus
- bone marrow cells
- ventricular zone
- muscle layer of sigmoid colon
- seminal vesicula
- appendix
- visceral pleura
- mononuclear cell
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| | Top expressed in | - tibiofemoral joint
- fetal liver hematopoietic progenitor cell
- granulocyte
- mesenteric lymph nodes
- human fetus
- thymus
- abdominal wall
- hair follicle
- primitive streak
- mandibular prominence
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| | More reference expression data |
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| BioGPS |  | | More reference expression data |
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| Gene ontology |
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| Molecular function | - oxidoreductase activity, acting on the CH-CH group of donors
- DNA binding
- oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor
- protein binding
- chromo shadow domain binding
- lamin binding
- delta14-sterol reductase activity
- RNA binding
- NADPH binding
- oxidoreductase activity
| | Cellular component | - integral component of membrane
- integral component of endoplasmic reticulum membrane
- nuclear inner membrane
- integral component of nuclear inner membrane
- nuclear membrane
- nuclear envelope
- membrane
- nucleus
- cytoplasm
- endoplasmic reticulum membrane
- endoplasmic reticulum
| | Biological process | - cholesterol biosynthetic process
- sterol biosynthetic process
- neutrophil differentiation
- lipid metabolism
- steroid biosynthetic process
- steroid metabolic process
- cholesterol metabolic process
| | Sources:Amigo / QuickGO |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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Lamin-B receptor is a protein, and in humans, it is encoded by the LBR gene.[5][6][7]
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.[7]
Clinical significance
There is evidence tying it to Greenberg dysplasia[8] and Pelger-Huet anomaly.[9]
Interactions
Lamin B receptor has been shown to interact with CBX3[10] and CBX5.[10] 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,[11] but it might be redundant for correct XCI in vivo.[12]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000143815 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000004880 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Schuler E, Lin F, Worman HJ (April 1994). "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. doi:10.1016/S0021-9258(19)78127-7. PMID 8157663.
- ^ Holmer L, Pezhman A, Worman HJ (December 1998). "The human lamin B receptor/sterol reductase multigene family". Genomics. 54 (3): 469–76. doi:10.1006/geno.1998.5615. PMID 9878250.
- ^ a b "Entrez Gene: LBR lamin B receptor".
- ^ Online Mendelian Inheritance in Man (OMIM): 215140
- ^ Online Mendelian Inheritance in Man (OMIM): 169400
- ^ a b Ye Q, Worman HJ (June 1996). "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. doi:10.1074/jbc.271.25.14653. PMID 8663349.
- ^ Chen CK, Blanco M, Jackson C, Aznauryan E, Ollikainen N, Surka C, Chow A, Cerase A, McDonel P, Guttman M (October 2016). "Xist recruits the X chromosome to the nuclear lamina to enable chromosome-wide silencing". Science. 354 (6311): 468–472. Bibcode:2016Sci...354..468C. doi:10.1126/science.aae0047. PMID 27492478.
- ^ Young, Alexander Neil; Perlas, Emerald; Ruiz-Blanes, Nerea; Hierholzer, Andreas; Pomella, Nicola; Martin-Martin, Belen; Liverziani, Alessandra; Jachowicz, Joanna W.; Giannakouros, Thomas; Cerase, Andrea (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. PMC 8041748. PMID 33846535.
Further reading
- Worman HJ, Yuan J, Blobel G, Georgatos SD (November 1988). "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. Bibcode:1988PNAS...85.8531W. doi:10.1073/pnas.85.22.8531. PMC 282492. PMID 2847165.
- Soullam B, Worman HJ (March 1993). "The amino-terminal domain of the lamin B receptor is a nuclear envelope targeting signal". The Journal of Cell Biology. 120 (5): 1093–100. doi:10.1083/jcb.120.5.1093. PMC 2119726. PMID 7679672.
- Maruyama K, Sugano S (January 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 (April 1994). "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. doi:10.1016/S0021-9258(19)78126-5. PMID 8157662.
- Ye Q, Worman HJ (June 1996). "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. doi:10.1074/jbc.271.25.14653. PMID 8663349.
- Wydner KL, McNeil JA, Lin F, Worman HJ, Lawrence JB (March 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 (December 1996). "The lamin B receptor (LBR) provides essential chromatin docking sites at the nuclear envelope". The EMBO Journal. 15 (24): 7108–19. doi:10.1002/j.1460-2075.1996.tb01102.x. PMC 452536. PMID 9003786.
- Ye Q, Callebaut I, Pezhman A, Courvalin JC, Worman HJ (June 1997). "Domain-specific interactions of human HP1-type chromodomain proteins and inner nuclear membrane protein LBR". The Journal of Biological Chemistry. 272 (23): 14983–9. doi:10.1074/jbc.272.23.14983. PMID 9169472.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 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 (February 1999). "SRPK1 and LBR protein kinases show identical substrate specificities". Biochemical and Biophysical Research Communications. 255 (3): 602–7. doi:10.1006/bbrc.1999.0249. PMID 10049757.
- Papoutsopoulou S, Nikolakaki E, Chalepakis G, Kruft V, Chevaillier P, Giannakouros T (July 1999). "SR protein-specific kinase 1 is highly expressed in testis and phosphorylates protamine 1". Nucleic Acids Research. 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 (April 2000). "A novel pro-Arg motif recognized by WW domains". The Journal of Biological Chemistry. 275 (14): 10359–69. doi:10.1074/jbc.275.14.10359. PMID 10744724.
- Duband-Goulet I, Courvalin JC (May 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 (November 2000). "HA95 is a protein of the chromatin and nuclear matrix regulating nuclear envelope dynamics". Journal of Cell Science. 113 Pt 21 (21): 3703–13. doi:10.1242/jcs.113.21.3703. PMID 11034899.
- Takano M, Takeuchi M, Ito H, Furukawa K, Sugimoto K, Omata S, Horigome T (February 2002). "The binding of lamin B receptor to chromatin is regulated by phosphorylation in the RS region". European Journal of Biochemistry. 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 (August 2002). "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. doi:10.1038/ng925. PMID 12118250. S2CID 6020153.
- Wells L, Vosseller K, Cole RN, Cronshaw JM, Matunis MJ, Hart GW (October 2002). "Mapping sites of O-GlcNAc modification using affinity tags for serine and threonine post-translational modifications". Molecular & Cellular Proteomics. 1 (10): 791–804. doi:10.1074/mcp.M200048-MCP200. PMID 12438562.
External links
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2dig: Solusion structure of the Todor domain of human Lamin-B receptor
