GGRNA | NM_001198557.1

LOCUS       NM_001198557            2267 bp    mRNA    linear   PRI 12-MAY-2013
DEFINITION  Homo sapiens lamin B1 (LMNB1), transcript variant 2, mRNA.
ACCESSION   NM_001198557
VERSION     NM_001198557.1  GI:310689048
KEYWORDS    RefSeq.
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 2267)
  AUTHORS   Dreesen,O., Chojnowski,A., Ong,P.F., Zhao,T.Y., Common,J.E.,
            Lunny,D., Lane,E.B., Lee,S.J., Vardy,L.A., Stewart,C.L. and
            Colman,A.
  TITLE     Lamin B1 fluctuations have differential effects on cellular
            proliferation and senescence
  JOURNAL   J. Cell Biol. 200 (5), 605-617 (2013)
   PUBMED   23439683
  REMARK    GeneRIF: LMNB1 protein levels decline in senescent human dermal
            fibroblasts and keratinocytes, mediated by reduced transcription
            and inhibition of LMNB1 messenger ribonucleic acid translation by
            miRNA-23a.
REFERENCE   2  (bases 1 to 2267)
  AUTHORS   Columbaro,M., Mattioli,E., Maraldi,N.M., Ortolani,M., Gasparini,L.,
            D'Apice,M.R., Postorivo,D., Nardone,A.M., Avnet,S., Cortelli,P.,
            Liguori,R. and Lattanzi,G.
  TITLE     Oct-1 recruitment to the nuclear envelope in adult-onset autosomal
            dominant leukodystrophy
  JOURNAL   Biochim. Biophys. Acta 1832 (3), 411-420 (2013)
   PUBMED   23261988
  REMARK    GeneRIF: Results indicate that lamin B1 (LMNB1) accumulation in
            adult-onset autosomal dominant leukodystrophy (ADLD) is associated
            with Oct-1 recruitment.
REFERENCE   3  (bases 1 to 2267)
  AUTHORS   Brussino,A., Vaula,G., Cagnoli,C., Mauro,A., Pradotto,L.,
            Daniele,D., Di Gregorio,E., Barberis,M., Arduino,C., Squadrone,S.,
            Abete,M.C., Migone,N., Calabrese,O. and Brusco,A.
  TITLE     A novel family with Lamin B1 duplication associated with
            adult-onset leucoencephalopathy
  JOURNAL   J. Neurol. Neurosurg. Psychiatr. 80 (2), 237-240 (2009)
   PUBMED   19151023
  REMARK    GeneRIF: duplication of the lamin B1 gene (LMNB1) has recently been
            described in a rare form of autosomal dominant adult-onset
            leukoencephalopathy.
REFERENCE   4  (bases 1 to 2267)
  AUTHORS   Shimi,T., Pfleghaar,K., Kojima,S., Pack,C.G., Solovei,I.,
            Goldman,A.E., Adam,S.A., Shumaker,D.K., Kinjo,M., Cremer,T. and
            Goldman,R.D.
  TITLE     The A- and B-type nuclear lamin networks: microdomains involved in
            chromatin organization and transcription
  JOURNAL   Genes Dev. 22 (24), 3409-3421 (2008)
   PUBMED   19141474
  REMARK    GeneRIF: Silencing lamin B1 expression dramatically increases the
            lamina meshwork size and the mobility of nucleoplasmic lamin A
REFERENCE   5  (bases 1 to 2267)
  AUTHORS   Gruenbaum,Y., Wilson,K.L., Harel,A., Goldberg,M. and Cohen,M.
  TITLE     Review: nuclear lamins--structural proteins with fundamental
            functions
  JOURNAL   J. Struct. Biol. 129 (2-3), 313-323 (2000)
   PUBMED   10806082
  REMARK    Review article
REFERENCE   6  (bases 1 to 2267)
  AUTHORS   Broers,J.L., Machiels,B.M., Kuijpers,H.J., Smedts,F., van den
            Kieboom,R., Raymond,Y. and Ramaekers,F.C.
  TITLE     A- and B-type lamins are differentially expressed in normal human
            tissues
  JOURNAL   Histochem. Cell Biol. 107 (6), 505-517 (1997)
   PUBMED   9243284
REFERENCE   7  (bases 1 to 2267)
  AUTHORS   Wydner,K.L., McNeil,J.A., Lin,F., Worman,H.J. and Lawrence,J.B.
  TITLE     Chromosomal assignment of human nuclear envelope protein genes
            LMNA, LMNB1, and LBR by fluorescence in situ hybridization
  JOURNAL   Genomics 32 (3), 474-478 (1996)
   PUBMED   8838815
REFERENCE   8  (bases 1 to 2267)
  AUTHORS   Lin,F. and Worman,H.J.
  TITLE     Structural organization of the human gene (LMNB1) encoding nuclear
            lamin B1
  JOURNAL   Genomics 27 (2), 230-236 (1995)
   PUBMED   7557986
REFERENCE   9  (bases 1 to 2267)
  AUTHORS   Foisner,R., Traub,P. and Wiche,G.
  TITLE     Protein kinase A- and protein kinase C-regulated interaction of
            plectin with lamin B and vimentin
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 88 (9), 3812-3816 (1991)
   PUBMED   2023931
REFERENCE   10 (bases 1 to 2267)
  AUTHORS   Djabali,K., Portier,M.M., Gros,F., Blobel,G. and Georgatos,S.D.
  TITLE     Network antibodies identify nuclear lamin B as a physiological
            attachment site for peripherin intermediate filaments
  JOURNAL   Cell 64 (1), 109-121 (1991)
   PUBMED   1986862
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK303084.1, AC137794.2 and
            AW512433.1.
            
            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. This gene encodes one of the two B type proteins,
            B1. Alternative splicing results in transcript variants and a
            duplication of this gene is associated with autosomal dominant
            adult-onset leukodystrophy (ADLD). [provided by RefSeq, Oct 2010].
            
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and initiates translation at an
            downstream start codon, compared to variant 1. The resulting
            protein (isoform 2) is shorter than isoform 1.
            
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK303084.1 [ECO:0000332]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-426               AK303084.1         1-426
            427-427             AC137794.2         59029-59029         c
            428-1536            AK303084.1         428-1536
            1537-2209           AC137794.2         32281-32953         c
            2210-2267           AW512433.1         1-58                c
FEATURES             Location/Qualifiers
     source          1..2267
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q23.2"
     gene            1..2267
                     /gene="LMNB1"
                     /gene_synonym="ADLD; LMN; LMN2; LMNB"
                     /note="lamin B1"
                     /db_xref="GeneID:4001"
                     /db_xref="HGNC:6637"
                     /db_xref="MIM:150340"
     exon            1..92
                     /gene="LMNB1"
                     /gene_synonym="ADLD; LMN; LMN2; LMNB"
                     /inference="alignment:Splign:1.39.8"
     exon            93..249
                     /gene="LMNB1"
                     /gene_synonym="ADLD; LMN; LMN2; LMNB"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(147)
                     /gene="LMNB1"
                     /gene_synonym="ADLD; LMN; LMN2; LMNB"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3749830"
     exon            250..375
                     /gene="LMNB1"
                     /gene_synonym="ADLD; LMN; LMN2; LMNB"
                     /inference="alignment:Splign:1.39.8"
     CDS             364..1494
                     /gene="LMNB1"
                     /gene_synonym="ADLD; LMN; LMN2; LMNB"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /codon_start=1
                     /product="lamin-B1 isoform 2"
                     /protein_id="NP_001185486.1"
                     /db_xref="GI:310689049"
                     /db_xref="GeneID:4001"
                     /db_xref="HGNC:6637"
                     /db_xref="MIM:150340"
                     /translation="

MYEEEINETRRKHETRLVEVDSGRQIEYEYKLAQALHEMREQHDAQVRLYKEELEQTYHAKLENARLSSEMNTSTVNSAREELMESRMRIESLSSQLSNLQKESRACLERIQELEDLLAKEKDNSRRMLTDKEREMAEIRDQMQQQLNDYEQLLDVKLALDMEISAYRKLLEGEEERLKLSPSPSSRVTVSRASSSRSVRTTRGKRKRVDVEESEASSSVSISHSASATGNVCIEEIDVDGKFIRLKNTSEQDQPMGGWEMIRKIGDTSVSYKYTSRYVLKAGQTVTIWAANAGVTASPPTDLIWKNQNSWGTGEDVKVILKNSQGEEVAQRSTVFKTTIPEEEEEEEEAAGVVVEEELFHQQGTPRASNRSCAIM

"
     misc_feature    <364..864
                     /gene="LMNB1"
                     /gene_synonym="ADLD; LMN; LMN2; LMNB"
                     /note="Intermediate filament protein; Region: Filament;
                     pfam00038"
                     /db_xref="CDD:200948"
     misc_feature    1048..1362
                     /gene="LMNB1"
                     /gene_synonym="ADLD; LMN; LMN2; LMNB"
                     /note="Lamin Tail Domain; Region: LTD; pfam00932"
                     /db_xref="CDD:201513"
     exon            376..546
                     /gene="LMNB1"
                     /gene_synonym="ADLD; LMN; LMN2; LMNB"
                     /inference="alignment:Splign:1.39.8"
     exon            547..672
                     /gene="LMNB1"
                     /gene_synonym="ADLD; LMN; LMN2; LMNB"
                     /inference="alignment:Splign:1.39.8"
     exon            673..893
                     /gene="LMNB1"
                     /gene_synonym="ADLD; LMN; LMN2; LMNB"
                     /inference="alignment:Splign:1.39.8"
     exon            894..1119
                     /gene="LMNB1"
                     /gene_synonym="ADLD; LMN; LMN2; LMNB"
                     /inference="alignment:Splign:1.39.8"
     exon            1120..1224
                     /gene="LMNB1"
                     /gene_synonym="ADLD; LMN; LMN2; LMNB"
                     /inference="alignment:Splign:1.39.8"
     exon            1225..1344
                     /gene="LMNB1"
                     /gene_synonym="ADLD; LMN; LMN2; LMNB"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(1235)
                     /gene="LMNB1"
                     /gene_synonym="ADLD; LMN; LMN2; LMNB"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:36105360"
     exon            1345..1452
                     /gene="LMNB1"
                     /gene_synonym="ADLD; LMN; LMN2; LMNB"
                     /inference="alignment:Splign:1.39.8"
     exon            1453..2250
                     /gene="LMNB1"
                     /gene_synonym="ADLD; LMN; LMN2; LMNB"
                     /inference="alignment:Splign:1.39.8"
     polyA_signal    2226..2231
                     /gene="LMNB1"
                     /gene_synonym="ADLD; LMN; LMN2; LMNB"
     polyA_site      2244
                     /gene="LMNB1"
                     /gene_synonym="ADLD; LMN; LMN2; LMNB"
     polyA_site      2250
                     /gene="LMNB1"
                     /gene_synonym="ADLD; LMN; LMN2; LMNB"
ORIGIN

aggaaacaaagtgctgcgagcaggagacggcggcggcgcgaaccctgctgggcctccagtcaccctcgtcttgcattttcccgcgtgcgtgtctatgctaagaaggaatctgatcttaatggcgcccagatcaagcttcgagaatatgaagcagcactgaattcgaaagatgcagctcttgctactgcacttggtgacaaaaaaagtttagagggagatttggaggatctgaaggatcagattgcccagttggaagcctccttagctgcagccaaaaaacagttagcagatgaaactttacttaaagtagatttggagaatcgttgtcagagccttactgaggacttggagtttcgcaaaagcatgtatgaagaggagattaacgagaccagaaggaagcatgaaacgcgcttggtagaggtggattctgggcgtcaaattgagtatgagtacaagctggcgcaagcccttcatgagatgagagagcaacatgatgcccaagtgaggctgtataaggaggagctggagcagacttaccatgccaaacttgagaatgccagactgtcatcagagatgaatacttctactgtcaacagtgccagggaagaactgatggaaagccgcatgagaattgagagcctttcatcccagctttctaatctacagaaagagtctagagcatgtttggaaaggattcaagaattagaggacttgcttgctaaagaaaaagacaactctcgtcgcatgctgacagacaaagagagagagatggcggaaataagggatcaaatgcagcaacagctgaatgactatgaacagcttcttgatgtaaagttagccctggacatggaaatcagtgcttacaggaaactcttagaaggcgaagaagagaggttgaagctgtctccaagcccttcttcccgtgtgacagtatcccgagcatcctcaagtcgtagtgtacgtacaactagaggaaagcggaagagggttgatgtggaagaatcagaggcgagtagtagtgttagcatctctcattccgcctcagccactggaaatgtttgcatcgaagaaattgatgttgatgggaaatttatccgcttgaagaacacttctgaacaggatcaaccaatgggaggctgggagatgatcagaaaaattggagacacatcagtcagttataaatatacctcaagatatgtgctgaaggcaggccagactgttacaatttgggctgcaaacgctggtgtcacagccagccccccaactgacctcatctggaagaaccagaactcgtggggcactggcgaagatgtgaaggttatattgaaaaattctcagggagaggaggttgctcaaagaagtacagtctttaaaacaaccatacctgaagaagaggaggaggaggaagaagcagctggagtggttgttgaggaagaacttttccaccagcagggaaccccaagagcatccaatagaagctgtgcaattatgtaaaattttcaactgtcttcctcaaaataaagaagtatggtaatctttacctgtatacagtgcagagccttctcagaagcacagaatatttttatatttcctttatgtgaatttttaagctgcaaatctgatggccttaatttcctttttgacactgaaagttttgtaaaagaaatcatgtccatacactttgttgcaagatgtgaattattgacactgaacttaataactgtgtactgttcggaaggggttcctcaaattttttgactttttttgtatgtgtgttttttctttttttttaagttcttatgaggaggggagggtaaataaaccactgtgcgtcttggtgtaatttgaagattgccccatctagactagcaatctcttcattattctctgctatatataaaacggtgctgtgagggaggggaaaagcatttttcaatatattgaacttttgtactgaatttttttgtaataagcaatcaaggttataattttttttaaaatagaaattttgtaagaaggcaatattaacctaatcaccatgtaagcactctggatgatggattccacaaaacttggttttatggttacttcttctcttagattcttaattcatgaggagggtgggggagggaggtggagggagggaagggtttctctattaaaatgcattcgttgtgttttttaagatagtgtaacttgcttaaatttcttatgtgacattaacaaataaaaaagctcttttaatattgaaaaaaaaaaaaaaaaaa

//

Annotations: