Lamin B receptor

Lamin B receptor

Lamin B receptor, also known as LBR, is a human gene.cite web | title = Entrez Gene: LBR lamin B receptor| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3930| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: LBR lamin B receptor| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3930| accessdate = ]

Clinical significance

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

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Worman HJ, Yuan J, Blobel G, Georgatos SD |title=A lamin B receptor in the nuclear envelope. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=85 |issue= 22 |pages= 8531–4 |year= 1988 |pmid= 2847165 |doi=
*cite journal | author=Soullam B, Worman HJ |title=The amino-terminal domain of the lamin B receptor is a nuclear envelope targeting signal. |journal=J. Cell Biol. |volume=120 |issue= 5 |pages= 1093–100 |year= 1993 |pmid= 7679672 |doi=
*cite journal | author=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 |year= 1994 |pmid= 8125298 |doi=
*cite journal | author=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=J. Biol. Chem. |volume=269 |issue= 15 |pages= 11306–11 |year= 1994 |pmid= 8157662 |doi=
*cite journal | author=Schuler E, Lin F, Worman HJ |title=Characterization of the human gene encoding LBR, an integral protein of the nuclear envelope inner membrane. |journal=J. Biol. Chem. |volume=269 |issue= 15 |pages= 11312–7 |year= 1994 |pmid= 8157663 |doi=
*cite journal | author=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=J. Biol. Chem. |volume=271 |issue= 25 |pages= 14653–6 |year= 1996 |pmid= 8663349 |doi=
*cite journal | author=Wydner KL, McNeil JA, Lin F, "et al." |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 |year= 1997 |pmid= 8838815 |doi= 10.1006/geno.1996.0146
*cite journal | author=Pyrpasopoulou A, Meier J, Maison C, "et al." |title=The lamin B receptor (LBR) provides essential chromatin docking sites at the nuclear envelope. |journal=EMBO J. |volume=15 |issue= 24 |pages= 7108–19 |year= 1997 |pmid= 9003786 |doi=
*cite journal | author=Ye Q, Callebaut I, Pezhman A, "et al." |title=Domain-specific interactions of human HP1-type chromodomain proteins and inner nuclear membrane protein LBR. |journal=J. Biol. Chem. |volume=272 |issue= 23 |pages= 14983–9 |year= 1997 |pmid= 9169472 |doi=
*cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, "et al." |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 |year= 1997 |pmid= 9373149 |doi=
*cite journal | author=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 |year= 1999 |pmid= 9878250 |doi= 10.1006/geno.1998.5615
*cite journal | author=Papoutsopoulou S, Nikolakaki E, Giannakouros T |title=SRPK1 and LBR protein kinases show identical substrate specificities. |journal=Biochem. Biophys. Res. Commun. |volume=255 |issue= 3 |pages= 602–7 |year= 1999 |pmid= 10049757 |doi= 10.1006/bbrc.1999.0249
*cite journal | author=Papoutsopoulou S, Nikolakaki E, Chalepakis G, "et al." |title=SR protein-specific kinase 1 is highly expressed in testis and phosphorylates protamine 1. |journal=Nucleic Acids Res. |volume=27 |issue= 14 |pages= 2972–80 |year= 1999 |pmid= 10390541 |doi=
*cite journal | author=Bedford MT, Sarbassova D, Xu J, "et al." |title=A novel pro-Arg motif recognized by WW domains. |journal=J. Biol. Chem. |volume=275 |issue= 14 |pages= 10359–69 |year= 2000 |pmid= 10744724 |doi=
*cite journal | author=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 |year= 2000 |pmid= 10828963 |doi=
*cite journal | author=Martins SB, Eide T, Steen RL, "et al." |title=HA95 is a protein of the chromatin and nuclear matrix regulating nuclear envelope dynamics. |journal=J. Cell. Sci. |volume=113 Pt 21 |issue= |pages= 3703–13 |year= 2001 |pmid= 11034899 |doi=
*cite journal | author=Takano M, Takeuchi M, Ito H, "et al." |title=The binding of lamin B receptor to chromatin is regulated by phosphorylation in the RS region. |journal=Eur. J. Biochem. |volume=269 |issue= 3 |pages= 943–53 |year= 2002 |pmid= 11846796 |doi=
*cite journal | author=Hoffmann K, Dreger CK, Olins AL, "et al." |title=Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly). |journal=Nat. Genet. |volume=31 |issue= 4 |pages= 410–4 |year= 2002 |pmid= 12118250 |doi= 10.1038/ng925
*cite journal | author=Wells L, Vosseller K, Cole RN, "et al." |title=Mapping sites of O-GlcNAc modification using affinity tags for serine and threonine post-translational modifications. |journal=Mol. Cell Proteomics |volume=1 |issue= 10 |pages= 791–804 |year= 2003 |pmid= 12438562 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899

External links

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