Sequence in raw or FASTA format:
Homo sapiens lamin A/C (LMNA), transcript variant 1, mRNA.
| RefSeq Version | NM_170707.2, 153281093 |
| Length | 3243 bp |
| Structure | linear |
| Update Date | 24-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens lamin A/C (LMNA), transcript variant 1, mRNA. |
| Product | prelamin-A/C isoform 1 precursor |
| Comment | Summary: The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Through alternate splicing, this gene encodes three type A lamin isoforms. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq]. Transcript Variant: This variant (1) encodes isoform 1, also known as lamin A. |
| RefSeq | NP_733821.1 |
| CDS | 250..2244 | Exon (1) | 1..605 | Exon (2) | 1..605 | Exon (3) | 606..762 | Exon (4) | 763..888 | Exon (5) | 889..1059 | Exon (6) | 1060..1185 | Exon (7) | 1186..1406 | Exon (8) | 1407..1629 | Exon (9) | 1630..1737 | Exon (10) | 1738..1857 | Exon (11) | 1858..1947 | Exon (12) | 1948..2217 | Exon (13) | 2218..3225 |
| Translation | METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLR
LRITESEEVVSREVSGIKAAYEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARN
TKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAKLEAALGEAK
KQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESR
LADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRID
SLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQ
ELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRK
LESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLT
YRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAM
RKLVRSVTVVEDDEDEDGDDLLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASA
SGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDNLVTRSYLLGNSSPRTQSPQN
CSIM
Order your protein of interest with our Guaranteed or It's Free Service now! For details, please click here. |
| Gene Symbol | LMNA |
| Gene Synonym | CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1 |
| Chromosome | 1 |
| Locus Map | 1q22 |
| All Transcripts | NM_170707 , NM_005572 , NM_170708 |
| Title | Accumulation of distinct prelamin A variants in human diploid fibroblasts differentially affects cell homeostasis . |
| Author | Candelario,J., Borrego,S., Reddy,S. and Comai,L. |
| Journal | Exp. Cell Res. 317 (3), 319-329 (2011) |
| Title | Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations . |
| Author | Scharner,J., Brown,C.A., Bower,M., Iannaccone,S.T., Khatri,I.A., Escolar,D., Gordon,E., Felice,K., Crowe,C.A., Grosmann,C., Meriggioli,M.N., Asamoah,A., Gordon,O., Gnocchi,V.F., Ellis,J.A., Mendell,J.R. and Zammit,P.S. |
| Journal | Hum. Mutat. 32 (2), 152-167 (2011) |
| Title | Premature senescence of vascular cells is induced by HIV protease inhibitors: implication of prelamin A and reversion by statin . |
| Author | Lefevre,C., Auclair,M., Boccara,F., Bastard,J.P., Capeau,J., Vigouroux,C. and Caron-Debarle,M. |
| Journal | Arterioscler. Thromb. Vasc. Biol. 30 (12), 2611-2620 (2010) |
| Title | Two children with 'dropped head' syndrome due to lamin A/C mutations . |
| Author | Chemla,J.C., Kanter,R.J., Carboni,M.P. and Smith,E.C. |
| Journal | Muscle Nerve 42 (5), 839-841 (2010) |
| Title | [Nucleopathies in children] . |
| Author | Madej-Pilarczyk,A. |
| Journal | Med Wieku Rozwoj 14 (4), 327-333 (2010) |
| Title | Mouse and human hemopoietic cell lines of erythroid lineage express lamins A,B and C . |
| Author | Martelli,A.M., Billi,A.M., Gilmour,R.S., Manzoli,L., Di Primio,R. and Cocco,L. |
| Journal | Biochem. Biophys. Res. Commun. 185 (1), 271-276 (1992) |
| Title | Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin . |
| Author | Dawson,S.J. and White,L.A. |
| Journal | J. Infect. 24 (3), 317-320 (1992) |
| Title | Interaction of human immunodeficiency virus type I Rev protein with nuclear scaffold nucleoside triphosphatase activity . |
| Author | Clawson,G.A., Song,Y.L., Schwartz,A.M., Shukla,R.R., Patel,S.G., Connor,L., Blankenship,L., Hatem,C. and Kumar,A. |
| Journal | Cell Growth Differ. 2 (11), 575-582 (1991) |
| Title | Induction of nuclear lamins A/C in macrophages in in vitro cultures of rat bone marrow precursor cells and human blood monocytes, and in macrophages elicited in vivo by thioglycollate stimulation . |
| Author | Rober,R.A., Gieseler,R.K., Peters,J.H., Weber,K. and Osborn,M. |
| Journal | Exp. Cell Res. 190 (2), 185-194 (1990) |
| Title | Mutations of phosphorylation sites in lamin A that prevent nuclear lamina disassembly in mitosis . |
| Author | Heald,R. and McKeon,F. |
| Journal | Cell 61 (4), 579-589 (1990) |
Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.
 |
Secured Online Quotation |
 |
Email: gene@genscript.com |
 |
Phone: 1-877-436-7274 (Toll-Free) 1-732-885-9188 |
 |
Fax: 1-732-210-0262 1-732-885-5878 |