LOCUS       NM_013752               2491 bp    mRNA    linear   ROD 12-AUG-2024
DEFINITION  Mus musculus nibrin (Nbn), mRNA.
ACCESSION   NM_013752
VERSION     NM_013752.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 2491)
  AUTHORS   Chen,H., Li,Y., Li,H., Chen,X., Fu,H., Mao,D., Chen,W., Lan,L.,
            Wang,C., Hu,K., Li,J., Zhu,C., Evans,I., Cheung,E., Lu,D., He,Y.,
            Behrens,A., Yin,D. and Zhang,C.
  TITLE     NBS1 lactylation is required for efficient DNA repair and
            chemotherapy resistance
  JOURNAL   Nature 631 (8021), 663-669 (2024)
   PUBMED   38961290
  REMARK    GeneRIF: NBS1 lactylation is required for efficient DNA repair and
            chemotherapy resistance.
REFERENCE   2  (bases 1 to 2491)
  AUTHORS   Reuss,D.E., Downing,S.M., Camacho,C.V., Wang,Y.D., Piro,R.M.,
            Herold-Mende,C., Wang,Z.Q., Hofmann,T.G., Sahm,F., von Deimling,A.,
            McKinnon,P.J. and Frappart,P.O.
  TITLE     Simultaneous Nbs1 and p53 inactivation in neural progenitors
            triggers high-grade gliomas
  JOURNAL   Neuropathol Appl Neurobiol 49 (4), e12915 (2023)
   PUBMED   37296499
  REMARK    GeneRIF: Simultaneous Nbs1 and p53 inactivation in neural
            progenitors triggers high-grade gliomas.
REFERENCE   3  (bases 1 to 2491)
  AUTHORS   Yurova,M.N., Golubev,A.G., Aleksakhina,S.N., Fedoros,E.I.,
            Tumanyan,I.A., Otradnova,E.A., Soloviev,I.V., Sergiev,P.V. and
            Imyanitov,E.N.
  TITLE     The Effect of Inactivating Heterozygous Mutation in NBS1 Gene on
            DNA Damage and Repair Markers and Apoptosis Markers in Mice
  JOURNAL   Bull Exp Biol Med 175 (2), 234-238 (2023)
   PUBMED   37466852
  REMARK    GeneRIF: The Effect of Inactivating Heterozygous Mutation in NBS1
            Gene on DNA Damage and Repair Markers and Apoptosis Markers in
            Mice.
REFERENCE   4  (bases 1 to 2491)
  AUTHORS   Petroni,M., Fabretti,F., Di Giulio,S., Nicolis di Robilant,V., La
            Monica,V., Moretti,M., Belardinilli,F., Bufalieri,F., Coppa,A.,
            Paci,P., Corsi,A., De Smaele,E., Coni,S., Canettieri,G., Di
            Marcotullio,L., Wang,Z.Q. and Giannini,G.
  TITLE     A gene dosage-dependent effect unveils NBS1 as both a
            haploinsufficient tumour suppressor and an essential gene for
            SHH-medulloblastoma
  JOURNAL   Neuropathol Appl Neurobiol 48 (6), e12837 (2022)
   PUBMED   35839783
  REMARK    GeneRIF: A gene dosage-dependent effect unveils NBS1 as both a
            haploinsufficient tumour suppressor and an essential gene for
            SHH-medulloblastoma.
REFERENCE   5  (bases 1 to 2491)
  AUTHORS   Ding,M., Qing,X., Zhang,G., Baade-Buttner,C., Gruber,R., Lu,H.,
            Ferguson,D.O., Geis,C., Wang,Z.Q. and Zhou,Z.W.
  TITLE     The Essential DNA Damage Response Complex MRN Is Dispensable for
            the Survival and Function of Purkinje Neurons
  JOURNAL   Front Aging Neurosci 13, 786199 (2022)
   PUBMED   35153719
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2491)
  AUTHORS   Tauchi,H., Kobayashi,J., Morishima,K., Matsuura,S., Nakamura,A.,
            Shiraishi,T., Ito,E., Masnada,D., Delia,D. and Komatsu,K.
  TITLE     The forkhead-associated domain of NBS1 is essential for nuclear
            foci formation after irradiation but not essential for
            hRAD50[middle dot]hMRE11[middle dot]NBS1 complex DNA repair
            activity
  JOURNAL   J Biol Chem 276 (1), 12-15 (2001)
   PUBMED   11062235
REFERENCE   7  (bases 1 to 2491)
  AUTHORS   Douglas,K.R. and Camper,S.A.
  TITLE     Partial transcriptome of the developing pituitary gland
  JOURNAL   Genomics 70 (3), 335-346 (2000)
   PUBMED   11161784
REFERENCE   8  (bases 1 to 2491)
  AUTHORS   Wilda,M., Demuth,I., Concannon,P., Sperling,K. and Hameister,H.
  TITLE     Expression pattern of the Nijmegen breakage syndrome gene, Nbs1,
            during murine development
  JOURNAL   Hum Mol Genet 9 (12), 1739-1744 (2000)
   PUBMED   10915761
REFERENCE   9  (bases 1 to 2491)
  AUTHORS   Lombard,D.B. and Guarente,L.
  TITLE     Nijmegen breakage syndrome disease protein and MRE11 at PML nuclear
            bodies and meiotic telomeres
  JOURNAL   Cancer Res 60 (9), 2331-2334 (2000)
   PUBMED   10811102
REFERENCE   10 (bases 1 to 2491)
  AUTHORS   Vissinga,C.S., Yeo,T.C., Woessner,J., Massa,H.F., Wilson,R.K.,
            Trask,B.J. and Concannon,P.
  TITLE     Identification, characterization, and mapping of a mouse homolog of
            the gene mutated in Nijmegen breakage syndrome
  JOURNAL   Cytogenet Cell Genet 87 (1-2), 80-84 (1999)
   PUBMED   10640816
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC013190.1 and BC055061.1.
            
            On Apr 19, 2007 this sequence version replaced NM_013752.2.
            
            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 :: BC044773.2, AK132302.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849375, SAMN00849380
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 BC013190.1         1-8
            9-2491              BC055061.1         1-2483
FEATURES             Location/Qualifiers
     source          1..2491
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="FVB/N"
                     /db_xref="taxon:10090"
                     /chromosome="4"
                     /map="4 6.66 cM"
     gene            1..2491
                     /gene="Nbn"
                     /gene_synonym="Nbs1"
                     /note="nibrin"
                     /db_xref="GeneID:27354"
                     /db_xref="MGI:MGI:1351625"
     exon            1..144
                     /gene="Nbn"
                     /gene_synonym="Nbs1"
                     /inference="alignment:Splign:2.1.0"
     CDS             108..2363
                     /gene="Nbn"
                     /gene_synonym="Nbs1"
                     /note="cell cycle regulatory protein p95; nijmegen
                     breakage syndrome protein 1 homolog"
                     /codon_start=1
                     /product="nibrin"
                     /protein_id="NP_038780.3"
                     /db_xref="CCDS:CCDS17986.1"
                     /db_xref="GeneID:27354"
                     /db_xref="MGI:MGI:1351625"
                     /translation="MWKLLPAAGAAPGEPYRLLAGVEYVVGRKNCGILIENDQSISRN
                     HAVLTVNFPVTSLSQTDEIPTLTIKDNSKYGTFVNEEKMQTGLSCTLKTGDRVTFGVF
                     ESKFRVEYEPLVVCSSCLDVSGKTVLNQAILQLGGLTANNWTEECTHLVMSAVKVTIK
                     TICALICGRPIIKPEYFSEFLKAVESKKQPPDIESFYPPIDEPAIGSKSVDLSGRHER
                     KQIFKGKTFVFLNAKQHKKLSSAVAFGGGEARLMAEDDEEEQSFFSAPGTCVVDVGIT
                     NTQLIISHSQKKWIHLIMDTLQRNGLRPIPEAEIGLAVIFMTTENYCNPQGQPCTELK
                     TTTPGPSLSQVLSANGKIIPSAPVNMTTYVADTESEPADTCMPLSERPEEVKIPGLEQ
                     SSRKLSQETFNIKEAPKPSSKANNVASDTLVRGKTPSYQLSPMKFPVANKNKDWTSQQ
                     QQNSIKNYFQPCTRKRERDEDNPELSSCKSSRMELSCSLLEQTQPAGPSLWKSKEHQS
                     QNATLDREADTSSVGGMDIELNRKSPDRKPLPTETLRPRKRKDVDLATEEEVLEELLR
                     STKPELAVQVKVEKQEADDTIRKKPRMDAERNRPLNGGSEPESNSALQEDEREKKDEL
                     QTESWSTKHEIANSDGLQDSSEELPRKLLLTEFRSLVVSNHNSTSRNLCVNECGPLKN
                     FKKFKKATFPGAGKLPHIIGGSDLVGHHARKNTELEEWLKQEMEVQKQQAKEESLADD
                     LFRYNPNVKRR"
     exon            145..278
                     /gene="Nbn"
                     /gene_synonym="Nbs1"
                     /inference="alignment:Splign:2.1.0"
     exon            279..427
                     /gene="Nbn"
                     /gene_synonym="Nbs1"
                     /inference="alignment:Splign:2.1.0"
     exon            428..587
                     /gene="Nbn"
                     /gene_synonym="Nbs1"
                     /inference="alignment:Splign:2.1.0"
     exon            588..691
                     /gene="Nbn"
                     /gene_synonym="Nbs1"
                     /inference="alignment:Splign:2.1.0"
     exon            692..809
                     /gene="Nbn"
                     /gene_synonym="Nbs1"
                     /inference="alignment:Splign:2.1.0"
     exon            810..1003
                     /gene="Nbn"
                     /gene_synonym="Nbs1"
                     /inference="alignment:Splign:2.1.0"
     exon            1004..1101
                     /gene="Nbn"
                     /gene_synonym="Nbs1"
                     /inference="alignment:Splign:2.1.0"
     exon            1102..1231
                     /gene="Nbn"
                     /gene_synonym="Nbs1"
                     /inference="alignment:Splign:2.1.0"
     exon            1232..1504
                     /gene="Nbn"
                     /gene_synonym="Nbs1"
                     /inference="alignment:Splign:2.1.0"
     exon            1505..1946
                     /gene="Nbn"
                     /gene_synonym="Nbs1"
                     /inference="alignment:Splign:2.1.0"
     exon            1947..2015
                     /gene="Nbn"
                     /gene_synonym="Nbs1"
                     /inference="alignment:Splign:2.1.0"
     exon            2016..2171
                     /gene="Nbn"
                     /gene_synonym="Nbs1"
                     /inference="alignment:Splign:2.1.0"
     exon            2172..2285
                     /gene="Nbn"
                     /gene_synonym="Nbs1"
                     /inference="alignment:Splign:2.1.0"
     exon            2286..2335
                     /gene="Nbn"
                     /gene_synonym="Nbs1"
                     /inference="alignment:Splign:2.1.0"
     exon            2336..2491
                     /gene="Nbn"
                     /gene_synonym="Nbs1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2472..2477
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Nbn"
                     /gene_synonym="Nbs1"
                     /note="hexamer: AATAAA"
     polyA_site      2491
                     /gene="Nbn"
                     /gene_synonym="Nbs1"
                     /note="major polyA site"
ORIGIN      
        1 tgggaacgcg cacgtcccgg agcccgcgcc ggtgcagccc ggtgaccgcg caggctgggc
       61 agctgcggtt ggcgtcgcac gtcgcggggt tctgagacgc cggccccatg tggaagctgc
      121 tcccggccgc cggtgcggct ccaggagaac cataccgact tttggccggc gtggagtacg
      181 ttgttgggag gaaaaactgt ggcattctga ttgaaaatga tcagtcaatc agtcgaaacc
      241 atgctgtctt aacagtaaac ttccctgtaa ccagtttgag tcaaacagat gaaattccta
      301 cattaacaat aaaagataat tctaagtatg gaacctttgt taatgaagaa aaaatgcaga
      361 ctggtctttc ctgcacgttg aagacaggag atagagttac ctttggggtg tttgaaagta
      421 aattcagagt agaatacgag cccttggttg tttgttcttc ttgtttagat gtctctggga
      481 aaactgtttt aaatcaagct attttacagc ttggaggact taccgcaaac aactggacgg
      541 aagaatgtac ccaccttgtc atgtcggcag ttaaagtcac cattaaaact atatgtgcac
      601 tcatttgtgg acgtccaatt ataaaaccag aatacttttc tgaatttctc aaagcagttg
      661 aatctaagaa acagcctcca gatattgaaa gtttttaccc acccattgat gaaccagcta
      721 ttggaagtaa aagtgttgat ctgtcagggc gacatgaaag aaaacagatc ttcaaaggaa
      781 aaacatttgt gtttttaaat gccaagcagc acaagaaact cagctcggca gttgctttcg
      841 gaggtggaga agccaggctg atggcagaag acgacgaaga ggaacagagc ttcttttcag
      901 ctcccggaac ctgcgttgtt gatgtaggaa taacgaatac acagctcata atttcacact
      961 cccagaaaaa atggattcat ttgataatgg atacacttca aaggaatggt ctcagaccta
     1021 ttcctgaagc ggagattgga ttggctgtta tttttatgac tacagagaat tactgtaatc
     1081 cgcagggcca gccttgtaca gaattaaaga caacgactcc aggaccaagc ctttcccaag
     1141 tcctgtcagc caatggaaaa ataatcccaa gtgctccagt gaatatgacc acatacgtag
     1201 ctgacacaga atcagagcca gcagatacat gtatgccttt gagtgaaaga ccagaagaag
     1261 taaagatccc tggactggaa caaagctcta ggaaactttc acaagaaaca ttcaatataa
     1321 aggaggcccc taaaccaagc tccaaagcta acaacgtagc atcagatacg ctggttagag
     1381 gaaagacccc gagctatcag ctttctccaa tgaaatttcc tgttgcaaat aaaaataagg
     1441 attggacttc tcagcagcag cagaactcca tcaaaaacta cttccagcca tgcaccagaa
     1501 aaagggaaag ggatgaagac aacccagagc tgtcctcgtg caaatcatcc aggatggagc
     1561 tgtcctgttc tcttttagaa caaacacaac ctgccggacc ctcactgtgg aaaagcaagg
     1621 agcatcagtc tcagaatgcg accctggaca gggaagccga cacctcatct gtgggtggga
     1681 tggacataga actcaacagg aagagtcctg acaggaaacc acttcccaca gaaactctta
     1741 gacccagaaa aagaaaagat gttgatttag ctacagaaga ggaagtcttg gaagagttac
     1801 tgaggagtac aaagccagag ttggcagttc aagtgaaggt tgaaaagcag gaggcagatg
     1861 acaccatcag aaaaaagcca aggatggacg cagagaggaa tcggcccctg aatggtggat
     1921 cagagccgga aagcaacagc gctcttcaag aagatgaaag agaaaagaaa gatgaacttc
     1981 agacagagtc gtggtcaaca aaacatgaaa tagctaatag tgatggtctt caggacagca
     2041 gtgaggagct gccacggaaa ctgctgctga ctgaatttag gtcattggtt gtcagtaacc
     2101 acaactccac ctccagaaat ctatgtgtaa atgaatgtgg tccactgaag aatttcaaga
     2161 aattcaagaa ggcgacattt cctggggcag gaaagcttcc acacatcatc ggaggatcag
     2221 acttagtagg ccaccatgct cgaaagaata ccgagttaga agaatggttg aaacaggaaa
     2281 tggaggtaca gaaacaacaa gcaaaggagg aatctcttgc tgatgatctg tttagatata
     2341 atcctaatgt aaaaagaaga taattgaacc ttgtaaagga agctgtagaa acacatttct
     2401 acttcagacc aactgagata cattaatata gtacatagaa attataaatg ctttaaggtt
     2461 tcagtttatt aaataaagga aacaaactct a
//
