LOCUS       NM_002296               3748 bp    mRNA    linear   PRI 12-AUG-2024
DEFINITION  Homo sapiens lamin B receptor (LBR), transcript variant 1, mRNA.
ACCESSION   NM_002296
VERSION     NM_002296.4
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 3748)
  AUTHORS   En,A., Takemoto,K., Yamakami,Y., Nakabayashi,K. and Fujii,M.
  TITLE     Upregulated expression of lamin B receptor increases cell
            proliferation and suppresses genomic instability: implications for
            cellular immortalization
  JOURNAL   FEBS J 291 (10), 2155-2171 (2024)
   PUBMED   38462947
  REMARK    GeneRIF: Upregulated expression of lamin B receptor increases cell
            proliferation and suppresses genomic instability: implications for
            cellular immortalization.
REFERENCE   2  (bases 1 to 3748)
  AUTHORS   Patil,S., Deshpande,S. and Sengupta,K.
  TITLE     Nuclear envelope protein lamin B receptor protects the genome from
            chromosomal instability and tumorigenesis
  JOURNAL   Hum Mol Genet 32 (5), 745-763 (2023)
   PUBMED   36124691
  REMARK    GeneRIF: Nuclear envelope protein lamin B receptor protects the
            genome from chromosomal instability and tumorigenesis.
REFERENCE   3  (bases 1 to 3748)
  AUTHORS   Wesley,C.C. and Levy,D.L.
  TITLE     Differentiation-dependent changes in lamin B1 dynamics and lamin B
            receptor localization
  JOURNAL   Mol Biol Cell 34 (2), ar10 (2023)
   PUBMED   36598800
  REMARK    GeneRIF: Differentiation-dependent changes in lamin B1 dynamics and
            lamin B receptor localization.
REFERENCE   4  (bases 1 to 3748)
  AUTHORS   Tuysuz,B., Kasap,B., Saritas,M., Alkaya,D.U., Bozlak,S., Kiykim,A.,
            Durmaz,A., Yildirim,T., Akpinar,E., Apak,H. and Vural,M.
  TITLE     Natural history and genetic spectrum of the Turkish metaphyseal
            dysplasia cohort, including rare types caused by biallelic COL10A1,
            COL2A1, and LBR variants
  JOURNAL   Bone 167, 116614 (2023)
   PUBMED   36400164
  REMARK    GeneRIF: Natural history and genetic spectrum of the Turkish
            metaphyseal dysplasia cohort, including rare types caused by
            biallelic COL10A1, COL2A1, and LBR variants.
REFERENCE   5  (bases 1 to 3748)
  AUTHORS   Lammerhirt,L., Kappelmann-Fenzl,M., Fischer,S., Pommer,M.,
            Zimmermann,T., Kluge,V., Matthies,A., Kuphal,S. and Bosserhoff,A.K.
  TITLE     Knockdown of Lamin B1 and the Corresponding Lamin B Receptor Leads
            to Changes in Heterochromatin State and Senescence Induction in
            Malignant Melanoma
  JOURNAL   Cells 11 (14), 2154 (2022)
   PUBMED   35883595
  REMARK    GeneRIF: Knockdown of Lamin B1 and the Corresponding Lamin B
            Receptor Leads to Changes in Heterochromatin State and Senescence
            Induction in Malignant Melanoma.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3748)
  AUTHORS   Ye,Q. and Worman,H.J.
  TITLE     Interaction between an integral protein of the nuclear envelope
            inner membrane and human chromodomain proteins homologous to
            Drosophila HP1
  JOURNAL   J Biol Chem 271 (25), 14653-14656 (1996)
   PUBMED   8663349
REFERENCE   7  (bases 1 to 3748)
  AUTHORS   Schuler,E., Lin,F. and Worman,H.J.
  TITLE     Characterization of the human gene encoding LBR, an integral
            protein of the nuclear envelope inner membrane
  JOURNAL   J Biol Chem 269 (15), 11312-11317 (1994)
   PUBMED   8157663
REFERENCE   8  (bases 1 to 3748)
  AUTHORS   Ye,Q. and Worman,H.J.
  TITLE     Primary structure analysis and lamin B and DNA binding of human
            LBR, an integral protein of the nuclear envelope inner membrane
  JOURNAL   J Biol Chem 269 (15), 11306-11311 (1994)
   PUBMED   8157662
REFERENCE   9  (bases 1 to 3748)
  AUTHORS   Soullam,B. and Worman,H.J.
  TITLE     The amino-terminal domain of the lamin B receptor is a nuclear
            envelope targeting signal
  JOURNAL   J Cell Biol 120 (5), 1093-1100 (1993)
   PUBMED   7679672
REFERENCE   10 (bases 1 to 3748)
  AUTHORS   Worman,H.J., Yuan,J., Blobel,G. and Georgatos,S.D.
  TITLE     A lamin B receptor in the nuclear envelope
  JOURNAL   Proc Natl Acad Sci U S A 85 (22), 8531-8534 (1988)
   PUBMED   2847165
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AU134026.1, BC020079.1 and
            L25931.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_002296.3.
            
            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, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 encode the same protein.
            
            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 :: BC020079.1, L25931.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000272163.9/ ENSP00000272163.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 AU134026.1         76-78
            4-2201              BC020079.1         1-2198
            2202-3739           L25931.1           2177-3714
            3740-3748           BC020079.1         3737-3745
FEATURES             Location/Qualifiers
     source          1..3748
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.12"
     gene            1..3748
                     /gene="LBR"
                     /gene_synonym="C14SR; DHCR14B; LMN2R; PHA; PHASK; TDRD18"
                     /note="lamin B receptor"
                     /db_xref="GeneID:3930"
                     /db_xref="HGNC:HGNC:6518"
                     /db_xref="MIM:600024"
     exon            1..85
                     /gene="LBR"
                     /gene_synonym="C14SR; DHCR14B; LMN2R; PHA; PHASK; TDRD18"
                     /inference="alignment:Splign:2.1.0"
     exon            86..264
                     /gene="LBR"
                     /gene_synonym="C14SR; DHCR14B; LMN2R; PHA; PHASK; TDRD18"
                     /inference="alignment:Splign:2.1.0"
     CDS             100..1947
                     /gene="LBR"
                     /gene_synonym="C14SR; DHCR14B; LMN2R; PHA; PHASK; TDRD18"
                     /EC_number="1.3.1.70"
                     /note="integral nuclear envelope inner membrane protein;
                     tudor domain containing 18; delta-14-SR; sterol
                     C14-reductase; C-14 sterol reductase; 3-beta-hydroxysterol
                     Delta (14)-reductase"
                     /codon_start=1
                     /product="delta(14)-sterol reductase LBR"
                     /protein_id="NP_002287.2"
                     /db_xref="CCDS:CCDS1545.1"
                     /db_xref="GeneID:3930"
                     /db_xref="HGNC:HGNC:6518"
                     /db_xref="MIM:600024"
                     /translation="MPSRKFADGEVVRGRWPGSSLYYEVEILSHDSTSQLYTVKYKDG
                     TELELKENDIKPLTSFRQRKGGSTSSSPSRRRGSRSRSRSRSPGRPPKSARRSASASH
                     QADIKEARREVEVKLTPLILKPFGNSISRYNGEPEHIERNDAPHKNTQEKFSLSQESS
                     YIATQYSLRPRREEVKLKEIDSKEEKYVAKELAVRTFEVTPIRAKDLEFGGVPGVFLI
                     MFGLPVFLFLLLLMCKQKDPSLLNFPPPLPALYELWETRVFGVYLLWFLIQVLFYLLP
                     IGKVVEGTPLIDGRRLKYRLNGFYAFILTSAVIGTSLFQGVEFHYVYSHFLQFALAAT
                     VFCVVLSVYLYMRSLKAPRNDLSPASSGNAVYDFFIGRELNPRIGTFDLKYFCELRPG
                     LIGWVVINLVMLLAEMKIQDRAVPSLAMILVNSFQLLYVVDALWNEEALLTTMDIIHD
                     GFGFMLAFGDLVWVPFIYSFQAFYLVSHPNEVSWPMASLIIVLKLCGYVIFRGANSQK
                     NAFRKNPSDPKLAHLKTIHTSTGKNLLVSGWWGFVRHPNYLGDLIMALAWSLPCGFNH
                     ILPYFYIIYFTMLLVHREARDEYHCKKKYGVAWEKYCQRVPYRIFPYIY"
     exon            265..465
                     /gene="LBR"
                     /gene_synonym="C14SR; DHCR14B; LMN2R; PHA; PHASK; TDRD18"
                     /inference="alignment:Splign:2.1.0"
     exon            466..549
                     /gene="LBR"
                     /gene_synonym="C14SR; DHCR14B; LMN2R; PHA; PHASK; TDRD18"
                     /inference="alignment:Splign:2.1.0"
     exon            550..739
                     /gene="LBR"
                     /gene_synonym="C14SR; DHCR14B; LMN2R; PHA; PHASK; TDRD18"
                     /inference="alignment:Splign:2.1.0"
     exon            740..936
                     /gene="LBR"
                     /gene_synonym="C14SR; DHCR14B; LMN2R; PHA; PHASK; TDRD18"
                     /inference="alignment:Splign:2.1.0"
     exon            937..991
                     /gene="LBR"
                     /gene_synonym="C14SR; DHCR14B; LMN2R; PHA; PHASK; TDRD18"
                     /inference="alignment:Splign:2.1.0"
     exon            992..1183
                     /gene="LBR"
                     /gene_synonym="C14SR; DHCR14B; LMN2R; PHA; PHASK; TDRD18"
                     /inference="alignment:Splign:2.1.0"
     exon            1184..1287
                     /gene="LBR"
                     /gene_synonym="C14SR; DHCR14B; LMN2R; PHA; PHASK; TDRD18"
                     /inference="alignment:Splign:2.1.0"
     exon            1288..1413
                     /gene="LBR"
                     /gene_synonym="C14SR; DHCR14B; LMN2R; PHA; PHASK; TDRD18"
                     /inference="alignment:Splign:2.1.0"
     exon            1414..1582
                     /gene="LBR"
                     /gene_synonym="C14SR; DHCR14B; LMN2R; PHA; PHASK; TDRD18"
                     /inference="alignment:Splign:2.1.0"
     exon            1583..1663
                     /gene="LBR"
                     /gene_synonym="C14SR; DHCR14B; LMN2R; PHA; PHASK; TDRD18"
                     /inference="alignment:Splign:2.1.0"
     exon            1664..1786
                     /gene="LBR"
                     /gene_synonym="C14SR; DHCR14B; LMN2R; PHA; PHASK; TDRD18"
                     /inference="alignment:Splign:2.1.0"
     exon            1787..3748
                     /gene="LBR"
                     /gene_synonym="C14SR; DHCR14B; LMN2R; PHA; PHASK; TDRD18"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3723..3728
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LBR"
                     /gene_synonym="C14SR; DHCR14B; LMN2R; PHA; PHASK; TDRD18"
                     /note="hexamer: AATAAA"
     polyA_site      3748
                     /gene="LBR"
                     /gene_synonym="C14SR; DHCR14B; LMN2R; PHA; PHASK; TDRD18"
                     /note="major polyA site"
ORIGIN      
        1 agcgtcgcgc gcgtggatct gccgccgggt tgctgtgcga ctattctccg ggagccgtcc
       61 gtgtcaccgc cggaacctgg cgcaggttaa ttatagaaaa tgccaagtag gaaatttgcc
      121 gatggtgaag tggtaagagg tcgatggcct gggagttcac tttattatga agtagaaatt
      181 ctgagccacg acagcacctc ccagctttac actgtgaagt ataaagatgg aacagagctt
      241 gaattgaaag agaatgatat taagccttta acttccttta ggcaaaggaa aggtggctca
      301 acttccagtt ccccttccag acgccgaggg agtcgatcaa ggtcacgctc ccgatcccct
      361 ggtcgaccac ctaaaagtgc ccgccgatct gcttctgctt cccaccaggc cgacattaag
      421 gaagcaagga gggaagtgga agttaaattg actccgctga ttctgaagcc atttggaaat
      481 agcatcagca gatataatgg ggagcctgag catattgaga gaaatgacgc acctcataaa
      541 aatacacagg aaaaattcag tttgtcacaa gaaagcagtt acatagcaac acagtatagc
      601 cttcgtccaa gaagagaaga agtcaaatta aaagaaatag attctaagga agaaaaatac
      661 gttgcaaaag aactggcagt gagaaccttt gaagtgaccc ccatccgggc aaaggacttg
      721 gagtttggag gagtacctgg tgtgtttctc atcatgtttg gcctgcctgt gttcctcttc
      781 ctgttgctgt tgatgtgtaa acagaaagat cccagtcttc tgaatttccc tcctcctttg
      841 ccagctttgt atgagttatg ggaaaccaga gtatttgggg tctacctcct gtggtttttg
      901 attcaagtcc tgttctacct actgccaatt ggaaaggttg tagaaggaac gcctcttatt
      961 gatggaagaa gactcaagta tagattaaat ggattctatg cttttatcct gacatctgca
     1021 gtcatcggaa catctctctt ccagggcgta gagtttcatt acgtgtacag tcattttctt
     1081 cagtttgcac ttgcggccac tgttttttgt gtggtcttga gtgtgtatct ctacatgcgc
     1141 tctttgaaag cgccccggaa tgacctgtcg cctgccagct ctggaaatgc tgtctatgat
     1201 ttcttcattg gccgtgaatt aaaccctcga attggtactt ttgatctcaa atacttttgt
     1261 gaattgcgcc ccggattgat tggatgggtg gttattaact tggtgatgct tttggctgaa
     1321 atgaaaatac aggaccgcgc tgttccatcc ttggccatga ttttagttaa tagtttccag
     1381 cttctctatg tggtggatgc tctctggaat gaggaagcgt tgttgacgac catggacatc
     1441 atccacgatg gatttggatt catgctggct tttggagact tggtgtgggt tccctttatt
     1501 tacagcttcc aagcctttta tttagtcagt catccaaatg aagtgtcttg gccaatggct
     1561 tctctaatta ttgttctgaa actttgtggt tatgtaatct tccgaggtgc aaattctcag
     1621 aaaaatgcat tccggaaaaa tcccagtgat ccaaagcttg cacatttaaa aaccattcat
     1681 acttcaacgg gaaaaaatct tctagtttct ggatggtggg gctttgttcg ccaccccaat
     1741 tacttgggtg atctcatcat ggccttggcg tggtccctcc catgtggttt taaccacatt
     1801 ctgccttatt tctacataat ttatttcacc atgttgcttg tccaccgaga agctcgtgac
     1861 gagtaccact gtaagaagaa atacggcgtg gcttgggaaa agtactgtca gcgtgtgccc
     1921 taccgtatat ttccatacat ctactaatgc tcttctggct tttctacaaa atactcctgc
     1981 aattccagct gccatttgca aaaacaagga aaaaaatccg aaactttctt ttgttgcact
     2041 gacagggtct gtactttttt ttttcttttt gagtcaggac tatggagccg agtagttgat
     2101 cttttaatat agccgtgttt acttgtatta acttacagtt aacataggaa aaatacaagt
     2161 aaggatgtga gaatttgcat tttaatggga aattttcaac ccttaatctg aaaacagaag
     2221 acagtcttaa tataaatgta ctgtgaagaa tgctattgat gtttatggtt tctgattact
     2281 tttcaaattt tgatgttttt ttgccagttg gcttttctta aatgaaaaca ctgttccatt
     2341 taaagtacat ttatgtttta ttcagtaaga gaatagaatt ttcatttgtt tttctttaaa
     2401 tcctttacta attatataat ttgaaagcaa aaagaagggc ctatattaaa tgctgaaagt
     2461 gaaaagtgat gacattatta gcagacactg cttaaaggag accatttgta gcagttggct
     2521 taacctcaac ttctaaaact acattgaaaa tgtaaataca tagcttagtt ttttgtaata
     2581 tatggtgact tcagattttt ttgtacagta ttttgaatgt gagatgattg tcaggactaa
     2641 ctgtcttttt aacaaaacat tttcagtatt ttaaataaaa ttttgtaaag taatgtgaat
     2701 taaaaatttt ggaacaatta gaattcattc actattgtat agaagatgct gttaaaacat
     2761 aggaagggta tttttcttga tccaaagttt gtgaatttgg ctttgctacc tcaattgcag
     2821 gtgtttgttt gcctttataa actgttgcaa atagaaaaaa aatagaataa gtatatattt
     2881 ttggagtaac atcaatattt aaacattttt acacagatcg gtgtttgaaa atttgccatt
     2941 tcaggctaat atttttatat atttttgact ttttaaaagt tcatcagtgt ttttgctact
     3001 gttaagctta tgcagtttat actgtatttt ttatgtatcc tttatattta ccaaacctga
     3061 ctccctgtaa aggagtgctg tcttaaaaac aactgaaggg gttaaagtcg tttcttttag
     3121 tttaatagat gtgcataagg tagctttagc aattaaattc tagtgaagtt gatatagtct
     3181 catttttaat tgtcctgtaa tggaacagta gcaaattcac taaacttttg tgttcagagt
     3241 taaattgttc tcagtacttt caatgtaggg gaatgtaata aacatagtgt gtatgtttgg
     3301 gttttaatta cacattttat atatgagcca tttagatatg cagtgttaat tctatactgc
     3361 atttgaagtg tatgtaactt agcttatgtt aatgcagtca tgaagttggt ttgctccagc
     3421 atccggtagt ctttaaacat tcttttagtg aaattgtcat tgttttatca gtgctaatgt
     3481 gtgcaagcag tttttttatt ttgcttttct cctggcatca gaaagtggtg gcgttttctg
     3541 tactggattg caccaaggaa gcttttgggg aggaaggaag gacattaaat tctttccctg
     3601 gtaatgaaaa gagcccttta tcaatacagt gctgcaattt ctggatatca gctacacttt
     3661 gtttttaagt ttgtttttga catgtttatt tggcaaattt tataatgaag ttttaagttg
     3721 aaaataaaat gtagcaacat tttgatca
//
