LOCUS       NM_002485               4622 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens nibrin (NBN), transcript variant 1, mRNA.
ACCESSION   NM_002485
VERSION     NM_002485.5
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 4622)
  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 4622)
  AUTHORS   Zhong,A., Cheng,C.S., Lu,R.Q. and Guo,L.
  TITLE     Suppression of NBS1 Upregulates CyclinB to Induce Olaparib
            Sensitivity in Ovarian Cancer
  JOURNAL   Technol Cancer Res Treat 23, 15330338231212085 (2024)
   PUBMED   38192153
  REMARK    GeneRIF: Suppression of NBS1 Upregulates CyclinB to Induce Olaparib
            Sensitivity in Ovarian Cancer.
REFERENCE   3  (bases 1 to 4622)
  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   4  (bases 1 to 4622)
  AUTHORS   Chrzanowska,K.H., Seemanova,E., Varon,R., Digweed,M.,
            Piekutowska-Abramczuk,D., Sperling,K. and Seeman,P.
  TITLE     The NBN founder mutation-Evidence for a country specific difference
            in age at cancer manifestation
  JOURNAL   Cancer Rep (Hoboken) 6 (2), e1700 (2023)
   PUBMED   36806726
  REMARK    GeneRIF: The NBN founder mutation-Evidence for a country specific
            difference in age at cancer manifestation.
REFERENCE   5  (bases 1 to 4622)
  AUTHORS   Nigam,K., Gupta,S., Singh,N., Yadav,S.K. and Sanyal,S.
  TITLE     XRCC3 and NBS1 gene polymorphisms modulate the risk of pre-oral
            cancer and oral cancer in the North Indian population
  JOURNAL   J Cancer Res Ther 19 (2), 304-311 (2023)
   PUBMED   37006067
  REMARK    GeneRIF: XRCC3 and NBS1 gene polymorphisms modulate the risk of
            pre-oral cancer and oral cancer in the North Indian population.
REFERENCE   6  (bases 1 to 4622)
  AUTHORS   Carney,J.P., Maser,R.S., Olivares,H., Davis,E.M., Le Beau,M.,
            Yates,J.R. 3rd, Hays,L., Morgan,W.F. and Petrini,J.H.
  TITLE     The hMre11/hRad50 protein complex and Nijmegen breakage syndrome:
            linkage of double-strand break repair to the cellular DNA damage
            response
  JOURNAL   Cell 93 (3), 477-486 (1998)
   PUBMED   9590181
REFERENCE   7  (bases 1 to 4622)
  AUTHORS   Varon,R., Vissinga,C., Platzer,M., Cerosaletti,K.M.,
            Chrzanowska,K.H., Saar,K., Beckmann,G., Seemanova,E., Cooper,P.R.,
            Nowak,N.J., Stumm,M., Weemaes,C.M., Gatti,R.A., Wilson,R.K.,
            Digweed,M., Rosenthal,A., Sperling,K., Concannon,P. and Reis,A.
  TITLE     Nibrin, a novel DNA double-strand break repair protein, is mutated
            in Nijmegen breakage syndrome
  JOURNAL   Cell 93 (3), 467-476 (1998)
   PUBMED   9590180
REFERENCE   8  (bases 1 to 4622)
  AUTHORS   Matsuura,S., Weemaes,C., Smeets,D., Takami,H., Kondo,N.,
            Sakamoto,S., Yano,N., Nakamura,A., Tauchi,H., Endo,S., Oshimura,M.
            and Komatsu,K.
  TITLE     Genetic mapping using microcell-mediated chromosome transfer
            suggests a locus for Nijmegen breakage syndrome at chromosome
            8q21-24
  JOURNAL   Am J Hum Genet 60 (6), 1487-1494 (1997)
   PUBMED   9199571
REFERENCE   9  (bases 1 to 4622)
  AUTHORS   Saar,K., Chrzanowska,K.H., Stumm,M., Jung,M., Nurnberg,G.,
            Wienker,T.F., Seemanova,E., Wegner,R.D., Reis,A. and Sperling,K.
  TITLE     The gene for the ataxia-telangiectasia variant, Nijmegen breakage
            syndrome, maps to a 1-cM interval on chromosome 8q21
  JOURNAL   Am J Hum Genet 60 (3), 605-610 (1997)
   PUBMED   9042920
REFERENCE   10 (bases 1 to 4622)
  AUTHORS   Varon,R., Demuth,I. and Chrzanowska,K.H.
  TITLE     Nijmegen Breakage Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301355
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC071590.1, BC040519.1,
            BX640816.1 and AF069291.1.
            
            On Dec 4, 2019 this sequence version replaced NM_002485.4.
            
            Summary: Mutations in this gene are associated with Nijmegen
            breakage syndrome, an autosomal recessive chromosomal instability
            syndrome characterized by microcephaly, growth retardation,
            immunodeficiency, and cancer predisposition. The encoded protein is
            a member of the MRE11/RAD50 double-strand break repair complex
            which consists of 5 proteins. This gene product is thought to be
            involved in DNA double-strand break repair and DNA damage-induced
            checkpoint activation. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            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 :: AK289848.1, AF051334.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000265433.8/ ENSP00000265433.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1502              BC071590.1         1-1502
            1503-1618           BC040519.1         1555-1670
            1619-4449           BC071590.1         1620-4450
            4450-4617           BX640816.1         4505-4672
            4618-4622           AF069291.1         92411-92415         c
FEATURES             Location/Qualifiers
     source          1..4622
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q21.3"
     gene            1..4622
                     /gene="NBN"
                     /gene_synonym="AT-V1; AT-V2; ATV; hNbs1; NBS; NBS1; P95"
                     /note="nibrin"
                     /db_xref="GeneID:4683"
                     /db_xref="HGNC:HGNC:7652"
                     /db_xref="MIM:602667"
     exon            1..143
                     /gene="NBN"
                     /gene_synonym="AT-V1; AT-V2; ATV; hNbs1; NBS; NBS1; P95"
                     /inference="alignment:Splign:2.1.0"
     CDS             107..2371
                     /gene="NBN"
                     /gene_synonym="AT-V1; AT-V2; ATV; hNbs1; NBS; NBS1; P95"
                     /note="isoform 1 is encoded by transcript variant 1;
                     Nijmegen breakage syndrome 1 (nibrin); p95 protein of the
                     MRE11/RAD50 complex; cell cycle regulatory protein p95"
                     /codon_start=1
                     /product="nibrin isoform 1"
                     /protein_id="NP_002476.2"
                     /db_xref="CCDS:CCDS6249.1"
                     /db_xref="GeneID:4683"
                     /db_xref="HGNC:HGNC:7652"
                     /db_xref="MIM:602667"
                     /translation="MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRN
                     HAVLTANFSVTNLSQTDEIPVLTLKDNSKYGTFVNEEKMQNGFSRTLKSGDGITFGVF
                     GSKFRIEYEPLVACSSCLDVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIK
                     TICALICGRPIVKPEYFTEFLKAVESKKQPPQIESFYPPLDEPSIGSKNVDLSGRQER
                     KQIFKGKTFIFLNAKQHKKLSSAVVFGGGEARLITEENEEEHNFFLAPGTCVVDTGIT
                     NSQTLIPDCQKKWIQSIMDMLQRQGLRPIPEAEIGLAVIFMTTKNYCDPQGHPSTGLK
                     TTTPGPSLSQGVSVDEKLMPSAPVNTTTYVADTESEQADTWDLSERPKEIKVSKMEQK
                     FRMLSQDAPTVKESCKTSSNNNSMVSNTLAKMRIPNYQLSPTKLPSINKSKDRASQQQ
                     QTNSIRNYFQPSTKKRERDEENQEMSSCKSARIETSCSLLEQTQPATPSLWKNKEQHL
                     SENEPVDTNSDNNLFTDTDLKSIVKNSASKSHAAEKLRSNKKREMDDVAIEDEVLEQL
                     FKDTKPELEIDVKVQKQEEDVNVRKRPRMDIETNDTFSDEAVPESSKISQENEIGKKR
                     ELKEDSLWSAKEISNNDKLQDDSEMLPKKLLLTEFRSLVIKNSTSRNPSGINDDYGQL
                     KNFKKFKKVTYPGAGKLPHIIGGSDLIAHHARKNTELEEWLRQEMEVQNQHAKEESLA
                     DDLFRYNPYLKRRR"
     exon            144..277
                     /gene="NBN"
                     /gene_synonym="AT-V1; AT-V2; ATV; hNbs1; NBS; NBS1; P95"
                     /inference="alignment:Splign:2.1.0"
     exon            278..426
                     /gene="NBN"
                     /gene_synonym="AT-V1; AT-V2; ATV; hNbs1; NBS; NBS1; P95"
                     /inference="alignment:Splign:2.1.0"
     exon            427..586
                     /gene="NBN"
                     /gene_synonym="AT-V1; AT-V2; ATV; hNbs1; NBS; NBS1; P95"
                     /inference="alignment:Splign:2.1.0"
     exon            587..690
                     /gene="NBN"
                     /gene_synonym="AT-V1; AT-V2; ATV; hNbs1; NBS; NBS1; P95"
                     /inference="alignment:Splign:2.1.0"
     exon            691..808
                     /gene="NBN"
                     /gene_synonym="AT-V1; AT-V2; ATV; hNbs1; NBS; NBS1; P95"
                     /inference="alignment:Splign:2.1.0"
     exon            809..1002
                     /gene="NBN"
                     /gene_synonym="AT-V1; AT-V2; ATV; hNbs1; NBS; NBS1; P95"
                     /inference="alignment:Splign:2.1.0"
     exon            1003..1100
                     /gene="NBN"
                     /gene_synonym="AT-V1; AT-V2; ATV; hNbs1; NBS; NBS1; P95"
                     /inference="alignment:Splign:2.1.0"
     exon            1101..1230
                     /gene="NBN"
                     /gene_synonym="AT-V1; AT-V2; ATV; hNbs1; NBS; NBS1; P95"
                     /inference="alignment:Splign:2.1.0"
     exon            1231..1503
                     /gene="NBN"
                     /gene_synonym="AT-V1; AT-V2; ATV; hNbs1; NBS; NBS1; P95"
                     /inference="alignment:Splign:2.1.0"
     exon            1504..1951
                     /gene="NBN"
                     /gene_synonym="AT-V1; AT-V2; ATV; hNbs1; NBS; NBS1; P95"
                     /inference="alignment:Splign:2.1.0"
     exon            1952..2020
                     /gene="NBN"
                     /gene_synonym="AT-V1; AT-V2; ATV; hNbs1; NBS; NBS1; P95"
                     /inference="alignment:Splign:2.1.0"
     exon            2021..2176
                     /gene="NBN"
                     /gene_synonym="AT-V1; AT-V2; ATV; hNbs1; NBS; NBS1; P95"
                     /inference="alignment:Splign:2.1.0"
     exon            2177..2290
                     /gene="NBN"
                     /gene_synonym="AT-V1; AT-V2; ATV; hNbs1; NBS; NBS1; P95"
                     /inference="alignment:Splign:2.1.0"
     exon            2291..2340
                     /gene="NBN"
                     /gene_synonym="AT-V1; AT-V2; ATV; hNbs1; NBS; NBS1; P95"
                     /inference="alignment:Splign:2.1.0"
     exon            2341..4622
                     /gene="NBN"
                     /gene_synonym="AT-V1; AT-V2; ATV; hNbs1; NBS; NBS1; P95"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2501..2506
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NBN"
                     /gene_synonym="AT-V1; AT-V2; ATV; hNbs1; NBS; NBS1; P95"
                     /note="hexamer: AATAAA"
     polyA_site      2522
                     /gene="NBN"
                     /gene_synonym="AT-V1; AT-V2; ATV; hNbs1; NBS; NBS1; P95"
                     /note="major polyA site"
     regulatory      4447..4452
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NBN"
                     /gene_synonym="AT-V1; AT-V2; ATV; hNbs1; NBS; NBS1; P95"
                     /note="hexamer: AGTAAA"
     polyA_site      4469
                     /gene="NBN"
                     /gene_synonym="AT-V1; AT-V2; ATV; hNbs1; NBS; NBS1; P95"
                     /note="major polyA site"
     regulatory      4599..4604
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NBN"
                     /gene_synonym="AT-V1; AT-V2; ATV; hNbs1; NBS; NBS1; P95"
                     /note="hexamer: AATAAA"
     polyA_site      4622
                     /gene="NBN"
                     /gene_synonym="AT-V1; AT-V2; ATV; hNbs1; NBS; NBS1; P95"
ORIGIN      
        1 gcgcacgtcc cggagcccat gccgaccgca ggcgccgtat ccgcgctcgt ctagcagccc
       61 cggttacgcg gttgcacgtc ggccccagcc ctgaggagcc ggaccgatgt ggaaactgct
      121 gcccgccgcg ggcccggcag gaggagaacc atacagactt ttgactggcg ttgagtacgt
      181 tgttggaagg aaaaactgtg ccattctgat tgaaaatgat cagtcgatca gccgaaatca
      241 tgctgtgtta actgctaact tttctgtaac caacctgagt caaacagatg aaatccctgt
      301 attgacatta aaagataatt ctaagtatgg tacctttgtt aatgaggaaa aaatgcagaa
      361 tggcttttcc cgaactttga agtcggggga tggtattact tttggagtgt ttggaagtaa
      421 attcagaata gagtatgagc ctttggttgc atgctcttct tgtttagatg tctctgggaa
      481 aactgcttta aatcaagcta tattgcaact tggaggattt actgtaaaca attggacaga
      541 agaatgcact caccttgtca tggtatcagt gaaagttacc attaaaacaa tatgtgcact
      601 catttgtgga cgtccaattg taaagccaga atattttact gaattcctga aagcagttga
      661 gtccaagaag cagcctccac aaattgaaag tttttaccca cctcttgatg aaccatctat
      721 tggaagtaaa aatgttgatc tgtcaggacg gcaggaaaga aaacaaatct tcaaagggaa
      781 aacatttata tttttgaatg ccaaacagca taagaaattg agttccgcag ttgtctttgg
      841 aggtggggaa gctaggttga taacagaaga gaatgaagaa gaacataatt tctttttggc
      901 tccgggaacg tgtgttgttg atacaggaat aacaaactca cagaccttaa ttcctgactg
      961 tcagaagaaa tggattcagt caataatgga tatgctccaa aggcaaggtc ttagacctat
     1021 tcctgaagca gaaattggat tggcggtgat tttcatgact acaaagaatt actgtgatcc
     1081 tcagggccat cccagtacag gattaaagac aacaactcca ggaccaagcc tttcacaagg
     1141 cgtgtcagtt gatgaaaaac taatgccaag cgccccagtg aacactacaa catacgtagc
     1201 tgacacagaa tcagagcaag cagatacatg ggatttgagt gaaaggccaa aagaaatcaa
     1261 agtctccaaa atggaacaaa aattcagaat gctttcacaa gatgcaccca ctgtaaagga
     1321 gtcctgcaaa acaagctcta ataataatag tatggtatca aatactttgg ctaagatgag
     1381 aatcccaaac tatcagcttt caccaactaa attgccaagt ataaataaaa gtaaagatag
     1441 ggcttctcag cagcagcaga ccaactccat cagaaactac tttcagccgt ctaccaaaaa
     1501 aagggaaagg gatgaagaaa atcaagaaat gtcttcatgc aaatcagcaa gaatagaaac
     1561 gtcttgttct cttttagaac aaacacaacc tgctacaccc tcattgtgga aaaataagga
     1621 gcagcatcta tctgagaatg agcctgtgga cacaaactca gacaataact tatttacaga
     1681 tacagattta aaatctattg tgaaaaattc tgccagtaaa tctcatgctg cagaaaagct
     1741 aagatcaaat aaaaaaaggg aaatggatga tgtggccata gaagatgaag tattggaaca
     1801 gttattcaag gacacaaaac cagagttaga aattgatgtg aaagttcaaa aacaggagga
     1861 agatgtcaat gttagaaaaa ggccaaggat ggatatagaa acaaatgaca ctttcagtga
     1921 tgaagcagta ccagaaagta gcaaaatatc tcaagaaaat gaaattggga agaaacgtga
     1981 actcaaggaa gactcactat ggtcagctaa agaaatatct aacaatgaca aacttcagga
     2041 tgatagtgag atgcttccaa aaaagctgtt attgactgaa tttagatcac tggtgattaa
     2101 aaactctact tccagaaatc catctggcat aaatgatgat tatggtcaac taaaaaattt
     2161 caagaaattc aaaaaggtca catatcctgg agcaggaaaa cttccacaca tcattggagg
     2221 atcagatcta atagctcatc atgctcgaaa gaatacagaa ctagaagagt ggctaaggca
     2281 ggaaatggag gtacaaaatc aacatgcaaa agaagagtct cttgctgatg atctttttag
     2341 atacaatcct tatttaaaaa ggagaagata actgaggatt ttaaaaagaa gccatggaaa
     2401 aacttcctag taagcatcta cttcaggcca acaaggttat atgaatatat agtgtataga
     2461 agcgatttaa gttacaatgt tttatggcct aaatttatta aataaaatgc acaaaacttt
     2521 gattcttttg tatgtaacaa ttgtttgttc tgttttcagg ctttgtcatt gcatcttttt
     2581 ttcattttta aatgtgtttt gtttattaaa tagttaatat agtcacagtt caaaattcta
     2641 aatgtacgta aggtaaagac taaagtcacc cttccaccat tgtcctagct acttggttcc
     2701 cctcagaaaa aaattcatga tactcatttc ttatgaatct ttccagggat ttttgagtcc
     2761 tattcaaatt cctattttta aataatttcc tacacaaatg atagcataac atatgcagtg
     2821 ttctacacct tgctttttta cttagtagat taaaaattat aggaatatca atataatgtt
     2881 tttaatattt tttcttttcc attatgctgt agtcttacct aaactctggt gatccaaaca
     2941 aaatggcttc agtggtgcag atgtcaccta catgttattc tagtactaga aactgaagac
     3001 catgtggaga cttcatcaaa catgggttta gttttcacca gaatggaaag acctgtaccc
     3061 ctttttggtg gtcttactga gctgggtggg tgtctgtttt gagcttattt agagtcctag
     3121 ttttcctact tataaagtag aaatggtgag attgttttct ttttctacct taaagggaga
     3181 tggtaagaaa caatgaatgt cttttttcaa actttattga caagtgattt tcaagtctgt
     3241 gttcaaaaat atattcatgt acctgtgatc cagcaagaag ggagttccag tcaagagtca
     3301 ctacaactga ttagttgttt agagaatgag aaatggaaca gtgaggaatg gaggccatat
     3361 ttccatgact tcccttgtaa acagaagcaa cagaagggac aagaggctgg cctctacatc
     3421 actctcacct tccaaatctt gtggaagtgc atctacttgc cagaaccaaa ttaacttact
     3481 tccaagttct ggctgcttgc aggtggaact ccagctgcaa gggagttagg gaaatgaagg
     3541 tcttttttta aaagcttctc agccttccta gggaacagaa attgggtgag ccaatctgca
     3601 atttctacta caggcattga gaccagttag attattgaaa tattatagag agttatgaac
     3661 acttaaatta tgatagtggt atgacattgg atagaacatg ggatacttta gaagtagaat
     3721 tgacagggca tattagttga tgaaatggag tcatttgagt ctcttaatag ccatgtatca
     3781 taattaccaa gtgaagctgg tggaacatat ggtctccatt ttacagttaa ggaatataat
     3841 ggacagatta atattgttct ctgtcatgcc cacaatccct ttctaaggaa gactgcccta
     3901 ctatagcagt ttttatattt gtcaatttat gaatataatg aatgagagtt ctggtacctc
     3961 ctgtctttac aaatattggt gttgtcagta tttttccttt ttaaccattc caatcggtgt
     4021 gtagtgatgt ttcattttgg ttttaatttg tatatccctg atagctataa ttgggtcata
     4081 gaaattcttt atacattcta gatgcaagtc tcttgtcgga tatatgtatt gagatattac
     4141 acctagtctg tggcttgact gttttcttta tgtcttttga tgaatagaag ttttaaattt
     4201 tgacaaggtc aaatttattt ttttcttttg tttgatattt tttctctcca atttaacccc
     4261 aagatttcag atattctgct ctattatata aactttatat ttttatattt gtgatctacc
     4321 ttgaattgat atgtatgttg tgaattatgg atcagggttc tttttttccc ccatacaagt
     4381 atccagtcat tgtaacactg tttattgaaa gaattatcct ttcctcatta aattaccttg
     4441 ccaattagta aaaaatcaat taaccataat ggtggatctg tttctggact ttctgtttgg
     4501 ttacactgaa atgtttgtcc atccttgcac tcactcatac catactgcct tgaattactg
     4561 tagctgcata gatgctcctt aagttgggat tacattgtaa taaacgcaat gtaagttgaa
     4621 aa
//
