KodDNA|Eminent Biosciences Products|GenBank Feature Extracting tool|Anuraj Nayarisseri|Indore|

LOCUS       NM_001257374            2031 bp    mRNA    linear   PRI 04-NOV-2012
DEFINITION  Homo sapiens lamin A/C (LMNA), transcript variant 4, mRNA.
ACCESSION   NM_001257374
VERSION     NM_001257374.1  GI:383792149
KEYWORDS    .
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 2031)
  AUTHORS   Mory,P.B., Crispim,F., Freire,M.B., Salles,J.E., Valerio,C.M.,
            Godoy-Matos,A.F., Dib,S.A. and Moises,R.S.
  TITLE     Phenotypic diversity in patients with lipodystrophy associated with
            LMNA mutations
  JOURNAL   Eur. J. Endocrinol. 167 (3), 423-431 (2012)
   PUBMED   22700598
  REMARK    GeneRIF: LMNA mutations are identified in phenotypically diverse
            lipodystrophies.
REFERENCE   2  (bases 1 to 2031)
  AUTHORS   Carboni,N., Sardu,C., Cocco,E., Marrosu,G., Manzi,R.C.,
            Nissardi,V., Isola,F., Mateddu,A., Solla,E., Maioli,M.A., Oppo,V.,
            Piras,R., Coghe,G., Lai,C. and Marrosu,M.G.
  TITLE     Cardiac involvement in patients with lamin A/C gene mutations: a
            cohort observation
  JOURNAL   Muscle Nerve 46 (2), 187-192 (2012)
   PUBMED   22806367
  REMARK    GeneRIF: Cardiac involvement represents a very common phenotypic
            expression of LMNA gene mutation.
REFERENCE   3  (bases 1 to 2031)
  AUTHORS   Muteliefu,G., Shimizu,H., Enomoto,A., Nishijima,F., Takahashi,M.
            and Niwa,T.
  TITLE     Indoxyl sulfate promotes vascular smooth muscle cell senescence
            with upregulation of p53, p21, and prelamin A through oxidative
            stress
  JOURNAL   Am. J. Physiol., Cell Physiol. 303 (2), C126-C134 (2012)
   PUBMED   22555846
  REMARK    GeneRIF: Indoxyl sulfate accelerates senescent vascular smooth
            muscle cells via upregulation of p53, p21, and prelamin A by
            oxidative stress in a nephrectomized uremic rat model.
REFERENCE   4  (bases 1 to 2031)
  AUTHORS   Kilanczyk,E., Graczyk,A., Ostrowska,H., Kasacka,I., Lesniak,W. and
            Filipek,A.
  TITLE     S100A6 is transcriptionally regulated by beta-catenin and interacts
            with a novel target, lamin A/C, in colorectal cancer cells
  JOURNAL   Cell Calcium 51 (6), 470-477 (2012)
   PUBMED   22560296
  REMARK    GeneRIF: S100A6 interacts with lamin A/C, a protein known to be
            implicated in colon carcinogenesis.
REFERENCE   5  (bases 1 to 2031)
  AUTHORS   Arancio,W.
  TITLE     A bioinformatics analysis of Lamin-A regulatory network: a
            perspective on epigenetic involvement in Hutchinson-Gilford
            progeria syndrome
  JOURNAL   Rejuvenation Res 15 (2), 123-127 (2012)
   PUBMED   22533413
  REMARK    GeneRIF: the Lamin-A regulatory network has epigenetic involvement
            in Hutchinson-Gilford progeria syndrome
REFERENCE   6  (bases 1 to 2031)
  AUTHORS   Martelli,A.M., Billi,A.M., Gilmour,R.S., Manzoli,L., Di Primio,R.
            and Cocco,L.
  TITLE     Mouse and human hemopoietic cell lines of erythroid lineage express
            lamins A,B and C
  JOURNAL   Biochem. Biophys. Res. Commun. 185 (1), 271-276 (1992)
   PUBMED   1599464
REFERENCE   7  (bases 1 to 2031)
  AUTHORS   Dawson,S.J. and White,L.A.
  TITLE     Treatment of Haemophilus aphrophilus endocarditis with
            ciprofloxacin
  JOURNAL   J. Infect. 24 (3), 317-320 (1992)
   PUBMED   1602151
REFERENCE   8  (bases 1 to 2031)
  AUTHORS   Clawson,G.A., Song,Y.L., Schwartz,A.M., Shukla,R.R., Patel,S.G.,
            Connor,L., Blankenship,L., Hatem,C. and Kumar,A.
  TITLE     Interaction of human immunodeficiency virus type I Rev protein with
            nuclear scaffold nucleoside triphosphatase activity
  JOURNAL   Cell Growth Differ. 2 (11), 575-582 (1991)
   PUBMED   1667585
REFERENCE   9  (bases 1 to 2031)
  AUTHORS   Rober,R.A., Gieseler,R.K., Peters,J.H., Weber,K. and Osborn,M.
  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
  JOURNAL   Exp. Cell Res. 190 (2), 185-194 (1990)
   PUBMED   2209722
REFERENCE   10 (bases 1 to 2031)
  AUTHORS   Heald,R. and McKeon,F.
  TITLE     Mutations of phosphorylation sites in lamin A that prevent nuclear
            lamina disassembly in mitosis
  JOURNAL   Cell 61 (4), 579-589 (1990)
   PUBMED   2344612
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC400775.1, AK295390.1,
            BC018863.2, AL135927.14 and AI872233.1.
            
            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. 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, Apr 2012].
            
            Transcript Variant: This variant (4) represents use of an alternate
            promoter and an alternate splice site in the 3' coding region,
            which results in a frameshift, compared to variant 1. It encodes
            isoform D, which is a shorter and has a distinct N- and C-terminus,
            compared to isoform A.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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.
            
            ##RefSeq-Attributes-START##
            Transcript_exon_combination_evidence :: AK295390.1  [ECO:0000332]
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-10                DC400775.1         1-10
            11-725              AK295390.1         1-715
            726-1569            BC018863.2         42-885
            1570-1709           AK295390.1         1560-1699
            1710-2009           AL135927.14        27468-27767
            2010-2031           AI872233.1         1-22                c
FEATURES             Location/Qualifiers
     source          1..2031
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22"
     gene            1..2031
                     /gene="LMNA"
                     /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
                     FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
                     LMNL1; PRO1"
                     /note="lamin A/C"
                     /db_xref="GeneID:4000"
                     /db_xref="HGNC:6636"
                     /db_xref="MIM:150330"
     exon            1..64
                     /gene="LMNA"
                     /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
                     FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
                     LMNL1; PRO1"
                     /inference="alignment:Splign:1.39.8"
                     /number=5
     CDS             45..1769
                     /gene="LMNA"
                     /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
                     FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
                     LMNL1; PRO1"
                     /note="isoform D is encoded by transcript variant 4; lamin
                     A/C-like 1; 70 kDa lamin; prelamin-A/C; renal carcinoma
                     antigen NY-REN-32"
                     /codon_start=1
                     /product="lamin isoform D"
                     /protein_id="NP_001244303.1"
                     /db_xref="GI:383792150"
                     /db_xref="CCDS:CCDS58038.1"
                     /db_xref="GeneID:4000"
                     /db_xref="HGNC:6636"
                     /db_xref="MIM:150330"
                     /translation="MGNSEGCNTKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKR
                     TLEGELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEE
                     LRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLD
                     NARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARE
                     RDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLR
                     LSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVD
                     EEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGA
                     THSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDDLL
                     HHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQVGGPISSGSSASSV
                     TVTRSYRSVGGSGGGSFGDNLVTRSYLLGNSSPRTQSPQNCSIIQEMGMRWEVEEGRR
                     KVSLSCLP"
     exon            65..221
                     /gene="LMNA"
                     /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
                     FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
                     LMNL1; PRO1"
                     /inference="alignment:Splign:1.39.8"
                     /number=7
     exon            222..347
                     /gene="LMNA"
                     /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
                     FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
                     LMNL1; PRO1"
                     /inference="alignment:Splign:1.39.8"
                     /number=8
     exon            348..518
                     /gene="LMNA"
                     /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
                     FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
                     LMNL1; PRO1"
                     /inference="alignment:Splign:1.39.8"
                     /number=9
     exon            519..644
                     /gene="LMNA"
                     /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
                     FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
                     LMNL1; PRO1"
                     /inference="alignment:Splign:1.39.8"
                     /number=10
     exon            645..865
                     /gene="LMNA"
                     /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
                     FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
                     LMNL1; PRO1"
                     /inference="alignment:Splign:1.39.8"
                     /number=11
     STS             817..1099
                     /gene="LMNA"
                     /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
                     FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
                     LMNL1; PRO1"
                     /standard_name="MARC_3281-3282:991936958:1"
                     /db_xref="UniSTS:231005"
     exon            866..1088
                     /gene="LMNA"
                     /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
                     FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
                     LMNL1; PRO1"
                     /inference="alignment:Splign:1.39.8"
                     /number=12
     exon            1089..1196
                     /gene="LMNA"
                     /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
                     FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
                     LMNL1; PRO1"
                     /inference="alignment:Splign:1.39.8"
                     /number=13
     exon            1197..1316
                     /gene="LMNA"
                     /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
                     FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
                     LMNL1; PRO1"
                     /inference="alignment:Splign:1.39.8"
                     /number=14
     exon            1317..1406
                     /gene="LMNA"
                     /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
                     FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
                     LMNL1; PRO1"
                     /inference="alignment:Splign:1.39.8"
                     /number=15a
     exon            1407..1676
                     /gene="LMNA"
                     /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
                     FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
                     LMNL1; PRO1"
                     /inference="alignment:Splign:1.39.8"
                     /number=16
     exon            1677..1699
                     /gene="LMNA"
                     /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
                     FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
                     LMNL1; PRO1"
                     /inference="alignment:Splign:1.39.8"
                     /number=17a
     exon            1700..2019
                     /gene="LMNA"
                     /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
                     FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
                     LMNL1; PRO1"
                     /inference="alignment:Splign:1.39.8"
                     /number=17c
     STS             1745..1861
                     /gene="LMNA"
                     /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
                     FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
                     LMNL1; PRO1"
                     /standard_name="D20S1027"
                     /db_xref="UniSTS:55344"
     polyA_site      2019
                     /gene="LMNA"
                     /gene_synonym="CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL;
                     FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC;
                     LMNL1; PRO1"
ORIGIN      
        1 gagaccctct gctcttctgc tcccttcctg tgtgctgcct ggcaatgggg aactctgagg
       61 gctgcaatac caagaaggag ggtgacctga tagctgctca ggctcggctg aaggacctgg
      121 aggctctgct gaactccaag gaggccgcac tgagcactgc tctcagtgag aagcgcacgc
      181 tggagggcga gctgcatgat ctgcggggcc aggtggccaa gcttgaggca gccctaggtg
      241 aggccaagaa gcaacttcag gatgagatgc tgcggcgggt ggatgctgag aacaggctgc
      301 agaccatgaa ggaggaactg gacttccaga agaacatcta cagtgaggag ctgcgtgaga
      361 ccaagcgccg tcatgagacc cgactggtgg agattgacaa tgggaagcag cgtgagtttg
      421 agagccggct ggcggatgcg ctgcaggaac tgcgggccca gcatgaggac caggtggagc
      481 agtataagaa ggagctggag aagacttatt ctgccaagct ggacaatgcc aggcagtctg
      541 ctgagaggaa cagcaacctg gtgggggctg cccacgagga gctgcagcag tcgcgcatcc
      601 gcatcgacag cctctctgcc cagctcagcc agctccagaa gcagctggca gccaaggagg
      661 cgaagcttcg agacctggag gactcactgg cccgtgagcg ggacaccagc cggcggctgc
      721 tggcggaaaa ggagcgggag atggccgaga tgcgggcaag gatgcagcag cagctggacg
      781 agtaccagga gcttctggac atcaagctgg ccctggacat ggagatccac gcctaccgca
      841 agctcttgga gggcgaggag gagaggctac gcctgtcccc cagccctacc tcgcagcgca
      901 gccgtggccg tgcttcctct cactcatccc agacacaggg tgggggcagc gtcaccaaaa
      961 agcgcaaact ggagtccact gagagccgca gcagcttctc acagcacgca cgcactagcg
     1021 ggcgcgtggc cgtggaggag gtggatgagg agggcaagtt tgtccggctg cgcaacaagt
     1081 ccaatgagga ccagtccatg ggcaattggc agatcaagcg ccagaatgga gatgatccct
     1141 tgctgactta ccggttccca ccaaagttca ccctgaaggc tgggcaggtg gtgacgatct
     1201 gggctgcagg agctggggcc acccacagcc cccctaccga cctggtgtgg aaggcacaga
     1261 acacctgggg ctgcgggaac agcctgcgta cggctctcat caactccact ggggaagaag
     1321 tggccatgcg caagctggtg cgctcagtga ctgtggttga ggacgacgag gatgaggatg
     1381 gagatgacct gctccatcac caccacggct cccactgcag cagctcgggg gaccccgctg
     1441 agtacaacct gcgctcgcgc accgtgctgt gcgggacctg cgggcagcct gccgacaagg
     1501 catctgccag cggctcagga gcccaggtgg gcggacccat ctcctctggc tcttctgcct
     1561 ccagtgtcac ggtcactcgc agctaccgca gtgtgggggg cagtgggggt ggcagcttcg
     1621 gggacaatct ggtcacccgc tcctacctcc tgggcaactc cagcccccga acccagagcc
     1681 cccagaactg cagcatcata caagagatgg gaatgaggtg ggaggtggaa gaagggagaa
     1741 gaaaggtgag tttgagctgc cttccctagc tttagaccct gggtgggctc tgtgcagtca
     1801 ctggaggttg aagccaagtg gggtgctggg aggagggaga gggaggtcac tggaaagggg
     1861 agagcctgct ggcacccacc gtggaggagg aaggcaagag ggggtggagg ggtgtggcag
     1921 tggttttggc aaacgctaaa gagcccttgc ctccccattt cccatctgca ccccttctct
     1981 cctccccaaa tcaatacact agttgtttct acccctggca aaaaaaaaaa a
//

Sequence features should be