Homo sapiens lamin B receptor (LBR), transcript variant 1, mRNA.
| RefSeq Version | NM_002296.3, 328447199 |
| Length | 3837 bp |
| Structure | linear |
| Update Date | 10-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens lamin B receptor (LBR), transcript variant 1, mRNA. |
| Product | lamin-B receptor |
| Comment | Summary: 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. [provided by RefSeq]. Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein. |
| RefSeq | NP_002287.2 |
| CDS | 175..2022 | Exon (1) | 1..160 | Exon (2) | 1..160 | Exon (3) | 161..339 | Exon (4) | 340..540 | Exon (5) | 541..624 | Exon (6) | 625..814 | Exon (7) | 815..1011 | Exon (8) | 1012..1066 | Exon (9) | 1067..1258 | Exon (10) | 1259..1362 | Exon (11) | 1363..1488 | Exon (12) | 1489..1657 | Exon (13) | 1658..1738 | Exon (14) | 1739..1861 | Exon (15) | 1862..3823 |
| Translation | MPSRKFADGEVVRGRWPGSSLYYEVEILSHDSTSQLYTVKYKDGTELELKENDIKPLTSF
RQRKGGSTSSSPSRRRGSRSRSRSRSPGRPPKSARRSASASHQADIKEARREVEVKLTPL
ILKPFGNSISRYNGEPEHIERNDAPHKNTQEKFSLSQESSYIATQYSLRPRREEVKLKEI
DSKEEKYVAKELAVRTFEVTPIRAKDLEFGGVPGVFLIMFGLPVFLFLLLLMCKQKDPSL
LNFPPPLPALYELWETRVFGVYLLWFLIQVLFYLLPIGKVVEGTPLIDGRRLKYRLNGFY
AFILTSAVIGTSLFQGVEFHYVYSHFLQFALAATVFCVVLSVYLYMRSLKAPRNDLSPAS
SGNAVYDFFIGRELNPRIGTFDLKYFCELRPGLIGWVVINLVMLLAEMKIQDRAVPSLAM
ILVNSFQLLYVVDALWNEEALLTTMDIIHDGFGFMLAFGDLVWVPFIYSFQAFYLVSHPN
EVSWPMASLIIVLKLCGYVIFRGANSQKNAFRKNPSDPKLAHLKTIHTSTGKNLLVSGWW
GFVRHPNYLGDLIMALAWSLPCGFNHILPYFYIIYFTMLLVHREARDEYHCKKKYGVAWE
KYCQRVPYRIFPYIY
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| Position | Chain | Variation | Link |
| Gene Symbol | LBR |
| Gene Synonym | DHCR14B; FLJ43126; LMN2R; MGC9041; PHA |
| Chromosome | 1 |
| Locus Map | 1q42.1 |
| All Transcripts | NM_002296 , NM_194442 |
| Title | Requirement for lamin B receptor and its regulation by importin {beta} and phosphorylation in nuclear envelope assembly during mitotic exit . |
| Author | Lu,X., Shi,Y., Lu,Q., Ma,Y., Luo,J., Wang,Q., Ji,J., Jiang,Q. and Zhang,C. |
| Journal | J. Biol. Chem. 285 (43), 33281-33293 (2010) |
| Title | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study . |
| Author | Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S. |
| Journal | Diabetes Care 33 (10), 2250-2253 (2010) |
| Title | Induction of a massive endoplasmic reticulum and perinuclear space expansion by expression of lamin B receptor mutants and the related sterol reductases TM7SF2 and DHCR7 . |
| Author | Zwerger,M., Kolb,T., Richter,K., Karakesisoglou,I. and Herrmann,H. |
| Journal | Mol. Biol. Cell 21 (2), 354-368 (2010) |
| Title | Nuclear shape in papillary thyroid carcinoma: a role for lamin B receptor? . |
| Author | Recupero,D., Annaratone,L., Maletta,F. and Bussolati,G. |
| Journal | Rom J Morphol Embryol 51 (4), 615-620 (2010) |
| Title | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip . |
| Author | Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C., Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R., Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A., Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C., Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S., Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N., Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D. |
| Journal | Am. J. Hum. Genet. 85 (5), 628-642 (2009) |
| Title | Interaction between an integral protein of the nuclear envelope inner membrane and human chromodomain proteins homologous to Drosophila HP1 . |
| Author | Ye,Q. and Worman,H.J. |
| Journal | J. Biol. Chem. 271 (25), 14653-14656 (1996) |
| Title | Characterization of the human gene encoding LBR, an integral protein of the nuclear envelope inner membrane . |
| Author | Schuler,E., Lin,F. and Worman,H.J. |
| Journal | J. Biol. Chem. 269 (15), 11312-11317 (1994) |
| Title | Primary structure analysis and lamin B and DNA binding of human LBR, an integral protein of the nuclear envelope inner membrane . |
| Author | Ye,Q. and Worman,H.J. |
| Journal | J. Biol. Chem. 269 (15), 11306-11311 (1994) |
| Title | The amino-terminal domain of the lamin B receptor is a nuclear envelope targeting signal . |
| Author | Soullam,B. and Worman,H.J. |
| Journal | J. Cell Biol. 120 (5), 1093-1100 (1993) |
| Title | A lamin B receptor in the nuclear envelope . |
| Author | Worman,H.J., Yuan,J., Blobel,G. and Georgatos,S.D. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 85 (22), 8531-8534 (1988) |
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