LOCUS       NM_170707               3178 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens lamin A/C (LMNA), transcript variant 1, mRNA.
ACCESSION   NM_170707
VERSION     NM_170707.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3178)
  AUTHORS   McClintock,D., Ratner,D., Lokuge,M., Owens,D.M., Gordon,L.B.,
            Collins,F.S. and Djabali,K.
  TITLE     The mutant form of lamin A that causes Hutchinson-Gilford progeria
            is a biomarker of cellular aging in human skin
  JOURNAL   PLoS One 2 (12), e1269 (2007)
   PUBMED   18060063
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3178)
  AUTHORS   Scaffidi,P. and Misteli,T.
  TITLE     Lamin A-dependent nuclear defects in human aging
  JOURNAL   Science 312 (5776), 1059-1063 (2006)
   PUBMED   16645051
  REMARK    GeneRIF: observations implicate lamin A in physiological aging
REFERENCE   3  (bases 1 to 3178)
  AUTHORS   De Sandre-Giovannoli,A., Bernard,R., Cau,P., Navarro,C., Amiel,J.,
            Boccaccio,I., Lyonnet,S., Stewart,C.L., Munnich,A., Le Merrer,M.
            and Levy,N.
  TITLE     Lamin a truncation in Hutchinson-Gilford progeria
  JOURNAL   Science 300 (5628), 2055 (2003)
   PUBMED   12702809
  REMARK    GeneRIF: Hutchinson-Gilford progeria appears to represent a novel
            laminopathy, caused by a single heterozygous splicing mutation in
            the LMNA gene, leading to a major loss of Lamin A expression,
            intimately associated to nuclear alterations
REFERENCE   4  (bases 1 to 3178)
  AUTHORS   Hershberger,R.E. and Jordan,E.
  TITLE     LMNA-Related Dilated Cardiomyopathy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301717
REFERENCE   5  (bases 1 to 3178)
  AUTHORS   Bonne,G., Leturcq,F. and Ben Yaou,R.
  TITLE     Emery-Dreifuss Muscular Dystrophy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301609
REFERENCE   6  (bases 1 to 3178)
  AUTHORS   Pegoraro,E. and Hoffman,E.P.
  TITLE     Limb-Girdle Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301582
REFERENCE   7  (bases 1 to 3178)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Hereditary Neuropathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301532
REFERENCE   8  (bases 1 to 3178)
  AUTHORS   Hershberger,R.E. and Jordan,E.
  TITLE     Dilated Cardiomyopathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301486
REFERENCE   9  (bases 1 to 3178)
  AUTHORS   Sparks,S.E., Quijano-Roy,S., Harper,A., Rutkowski,A., Gordon,E.,
            Hoffman,E.P. and Pegoraro,E.
  TITLE     Congenital Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301468
REFERENCE   10 (bases 1 to 3178)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 2 - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301462
REFERENCE   11 (bases 1 to 3178)
  AUTHORS   Gordon,L.B., Brown,W.T. and Collins,F.S.
  TITLE     Hutchinson-Gilford Progeria Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301300
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG822820.1, BC014507.1,
            AL135927.14 and AI872233.1.
            
            On Nov 23, 2018 this sequence version replaced NM_170707.3.
            
            Summary: The protein encoded by this gene is part of the nuclear
            lamina, 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. Alternative
            splicing results in multiple transcript variants. 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, May
            2022].
            
            Transcript Variant: This variant (1) encodes isoform A.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK026584.1, SRR11853563.2122.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368300.9/ ENSP00000357283.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                BG822820.1         67-77
            12-2414             BC014507.1         1-2403
            2415-3176           AL135927.14        27006-27767
            3177-3178           AI872233.1         21-22               c
FEATURES             Location/Qualifiers
     source          1..3178
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22"
     gene            1..3178
                     /gene="LMNA"
                     /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
                     FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
                     LMNL1; MADA; PRO1"
                     /note="lamin A/C"
                     /db_xref="GeneID:4000"
                     /db_xref="HGNC:HGNC:6636"
                     /db_xref="MIM:150330"
     exon            1..564
                     /gene="LMNA"
                     /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
                     FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
                     LMNL1; MADA; PRO1"
                     /inference="alignment:Splign:2.1.0"
     CDS             209..2203
                     /gene="LMNA"
                     /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
                     FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
                     LMNL1; MADA; PRO1"
                     /note="isoform A is encoded by transcript variant 1; lamin
                     A/C-like 1; 70 kDa lamin; prelamin-A/C; lamin C; progerin;
                     renal carcinoma antigen NY-REN-32; mandibuloacral
                     dysplasia type A; epididymis secretory sperm binding
                     protein"
                     /codon_start=1
                     /product="lamin isoform A"
                     /protein_id="NP_733821.1"
                     /db_xref="CCDS:CCDS1129.1"
                     /db_xref="GeneID:4000"
                     /db_xref="HGNC:HGNC:6636"
                     /db_xref="MIM:150330"
                     /translation="METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAV
                     YIDRVRSLETENAGLRLRITESEEVVSREVSGIKAAYEAELGDARKTLDSVAKERARL
                     QLELSKVREEFKELKARNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEG
                     ELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRET
                     KRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQ
                     SAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTS
                     RRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPS
                     PTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGK
                     FVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSP
                     PTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDDLLHHHH
                     GSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQVGGPISSGSSASSVTVTR
                     SYRSVGGSGGGSFGDNLVTRSYLLGNSSPRTQSPQNCSIM"
     exon            565..721
                     /gene="LMNA"
                     /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
                     FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
                     LMNL1; MADA; PRO1"
                     /inference="alignment:Splign:2.1.0"
     exon            722..847
                     /gene="LMNA"
                     /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
                     FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
                     LMNL1; MADA; PRO1"
                     /inference="alignment:Splign:2.1.0"
     exon            848..1018
                     /gene="LMNA"
                     /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
                     FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
                     LMNL1; MADA; PRO1"
                     /inference="alignment:Splign:2.1.0"
     exon            1019..1144
                     /gene="LMNA"
                     /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
                     FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
                     LMNL1; MADA; PRO1"
                     /inference="alignment:Splign:2.1.0"
     exon            1145..1365
                     /gene="LMNA"
                     /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
                     FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
                     LMNL1; MADA; PRO1"
                     /inference="alignment:Splign:2.1.0"
     exon            1366..1588
                     /gene="LMNA"
                     /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
                     FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
                     LMNL1; MADA; PRO1"
                     /inference="alignment:Splign:2.1.0"
     exon            1589..1696
                     /gene="LMNA"
                     /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
                     FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
                     LMNL1; MADA; PRO1"
                     /inference="alignment:Splign:2.1.0"
     exon            1697..1816
                     /gene="LMNA"
                     /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
                     FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
                     LMNL1; MADA; PRO1"
                     /inference="alignment:Splign:2.1.0"
     exon            1817..1906
                     /gene="LMNA"
                     /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
                     FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
                     LMNL1; MADA; PRO1"
                     /inference="alignment:Splign:2.1.0"
     exon            1907..2176
                     /gene="LMNA"
                     /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
                     FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
                     LMNL1; MADA; PRO1"
                     /inference="alignment:Splign:2.1.0"
     exon            2177..3178
                     /gene="LMNA"
                     /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
                     FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
                     LMNL1; MADA; PRO1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3160..3165
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LMNA"
                     /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
                     FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
                     LMNL1; MADA; PRO1"
                     /note="hexamer: AATACA"
     polyA_site      3178
                     /gene="LMNA"
                     /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
                     FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
                     LMNL1; MADA; PRO1"
                     /note="major polyA site"
ORIGIN      
        1 agtgttcgcg ggagcgccgc acctacacca gccaacccag atcccgaggt ccgacagcgc
       61 ccggcccaga tccccacgcc tgccaggagc aagccgagag ccagccggcc ggcgcactcc
      121 gactccgagc agtctctgtc cttcgacccg agccccgcgc cctttccggg acccctgccc
      181 cgcgggcagc gctgccaacc tgccggccat ggagaccccg tcccagcggc gcgccacccg
      241 cagcggggcg caggccagct ccactccgct gtcgcccacc cgcatcaccc ggctgcagga
      301 gaaggaggac ctgcaggagc tcaatgatcg cttggcggtc tacatcgacc gtgtgcgctc
      361 gctggaaacg gagaacgcag ggctgcgcct tcgcatcacc gagtctgaag aggtggtcag
      421 ccgcgaggtg tccggcatca aggccgccta cgaggccgag ctcggggatg cccgcaagac
      481 ccttgactca gtagccaagg agcgcgcccg cctgcagctg gagctgagca aagtgcgtga
      541 ggagtttaag gagctgaaag cgcgcaatac caagaaggag ggtgacctga tagctgctca
      601 ggctcggctg aaggacctgg aggctctgct gaactccaag gaggccgcac tgagcactgc
      661 tctcagtgag aagcgcacgc tggagggcga gctgcatgat ctgcggggcc aggtggccaa
      721 gcttgaggca gccctaggtg aggccaagaa gcaacttcag gatgagatgc tgcggcgggt
      781 ggatgctgag aacaggctgc agaccatgaa ggaggaactg gacttccaga agaacatcta
      841 cagtgaggag ctgcgtgaga ccaagcgccg tcatgagacc cgactggtgg agattgacaa
      901 tgggaagcag cgtgagtttg agagccggct ggcggatgcg ctgcaggaac tgcgggccca
      961 gcatgaggac caggtggagc agtataagaa ggagctggag aagacttatt ctgccaagct
     1021 ggacaatgcc aggcagtctg ctgagaggaa cagcaacctg gtgggggctg cccacgagga
     1081 gctgcagcag tcgcgcatcc gcatcgacag cctctctgcc cagctcagcc agctccagaa
     1141 gcagctggca gccaaggagg cgaagcttcg agacctggag gactcactgg cccgtgagcg
     1201 ggacaccagc cggcggctgc tggcggaaaa ggagcgggag atggccgaga tgcgggcaag
     1261 gatgcagcag cagctggacg agtaccagga gcttctggac atcaagctgg ccctggacat
     1321 ggagatccac gcctaccgca agctcttgga gggcgaggag gagaggctac gcctgtcccc
     1381 cagccctacc tcgcagcgca gccgtggccg tgcttcctct cactcatccc agacacaggg
     1441 tgggggcagc gtcaccaaaa agcgcaaact ggagtccact gagagccgca gcagcttctc
     1501 acagcacgca cgcactagcg ggcgcgtggc cgtggaggag gtggatgagg agggcaagtt
     1561 tgtccggctg cgcaacaagt ccaatgagga ccagtccatg ggcaattggc agatcaagcg
     1621 ccagaatgga gatgatccct tgctgactta ccggttccca ccaaagttca ccctgaaggc
     1681 tgggcaggtg gtgacgatct gggctgcagg agctggggcc acccacagcc cccctaccga
     1741 cctggtgtgg aaggcacaga acacctgggg ctgcgggaac agcctgcgta cggctctcat
     1801 caactccact ggggaagaag tggccatgcg caagctggtg cgctcagtga ctgtggttga
     1861 ggacgacgag gatgaggatg gagatgacct gctccatcac caccacggct cccactgcag
     1921 cagctcgggg gaccccgctg agtacaacct gcgctcgcgc accgtgctgt gcgggacctg
     1981 cgggcagcct gccgacaagg catctgccag cggctcagga gcccaggtgg gcggacccat
     2041 ctcctctggc tcttctgcct ccagtgtcac ggtcactcgc agctaccgca gtgtgggggg
     2101 cagtgggggt ggcagcttcg gggacaatct ggtcacccgc tcctacctcc tgggcaactc
     2161 cagcccccga acccagagcc cccagaactg cagcatcatg taatctggga cctgccaggc
     2221 aggggtgggg gtggaggctt cctgcgtcct cctcacctca tgcccacccc ctgccctgca
     2281 cgtcatggga gggggcttga agccaaagaa aaataaccct ttggtttttt tcttctgtat
     2341 ttttttttct aagagaagtt attttctaca gtggttttat actgaaggaa aaacacaagc
     2401 aaaaaaaaaa aaaagcatct atctcatcta tctcaatcct aatttctcct cccttccttt
     2461 tccctgcttc caggaaactc cacatctgcc ttaaaaccaa agagggcttc ctctagaagc
     2521 caagggaaag gggtgctttt atagaggcta gcttctgctt ttctgccctg gctgctgccc
     2581 ccaccccggg gaccctgtga catggtgcct gagaggcagg catagaggct tctccgccag
     2641 cctcctctgg acggcaggct cactgccagg ccagcctccg agagggagag agagagagag
     2701 aggacagctt gagccgggcc cctgggcttg gcctgctgtg attccactac acctggctga
     2761 ggttcctctg cctgccccgc ccccagtccc cacccctgcc cccagccccg gggtgagtcc
     2821 attctcccag gtaccagctg cgcttgcttt tctgtatttt atttagacaa gagatgggaa
     2881 tgaggtggga ggtggaagaa gggagaagaa aggtgagttt gagctgcctt ccctagcttt
     2941 agaccctggg tgggctctgt gcagtcactg gaggttgaag ccaagtgggg tgctgggagg
     3001 agggagaggg aggtcactgg aaaggggaga gcctgctggc acccaccgtg gaggaggaag
     3061 gcaagagggg gtggaggggt gtggcagtgg ttttggcaaa cgctaaagag cccttgcctc
     3121 cccatttccc atctgcaccc cttctctcct ccccaaatca atacactagt tgtttcta
//
