LOCUS       NM_206937               3981 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens DNA ligase 4 (LIG4), transcript variant 2, mRNA.
ACCESSION   NM_206937
VERSION     NM_206937.2
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 3981)
  AUTHORS   Bayat,L., Abbasi,S., Balasuriya,N. and Schild-Poulter,C.
  TITLE     Critical residues in the Ku70 von Willebrand A domain mediate Ku
            interaction with the LigIV-XRCC4 complex in non-homologous
            end-joining
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1871 (7), 119815 (2024)
   PUBMED   39151475
  REMARK    GeneRIF: Critical residues in the Ku70 von Willebrand A domain
            mediate Ku interaction with the LigIV-XRCC4 complex in
            non-homologous end-joining.
REFERENCE   2  (bases 1 to 3981)
  AUTHORS   Nicolle,R., Boutaud,L., Loeuillet,L., Talhi,N., Grotto,S.,
            Bourgon,N., Feresin,A., Coussement,A., Barrois,M., Beaujard,M.P.,
            Rambaud,T., Razavi,F. and Attie-Bitach,T.
  TITLE     Expanding the phenotypic spectrum of LIG4 pathogenic variations:
            neuro-histopathological description of 4 fetuses with stenosis of
            the aqueduct
  JOURNAL   Eur J Hum Genet 32 (5), 545-549 (2024)
   PUBMED   38351293
  REMARK    GeneRIF: Expanding the phenotypic spectrum of LIG4 pathogenic
            variations: neuro-histopathological description of 4 fetuses with
            stenosis of the aqueduct.
REFERENCE   3  (bases 1 to 3981)
  AUTHORS   Deng,Y., Ke,T.W., Yueh,T.C., Chin,Y.T., Wang,Y.C., Hung,Y.C.,
            Mong,M.C., Yang,Y.C., Wu,W.T., Chang,W.S., Gu,J., Bau,D.T. and
            Tsai,C.W.
  TITLE     The Contribution of DNA Ligase 4 Polymorphisms to Colorectal Cancer
  JOURNAL   In Vivo 38 (1), 127-133 (2024)
   PUBMED   38148049
  REMARK    GeneRIF: The Contribution of DNA Ligase 4 Polymorphisms to
            Colorectal Cancer.
REFERENCE   4  (bases 1 to 3981)
  AUTHORS   Kumari,N., Antil,H., Kumari,S. and Raghavan,S.C.
  TITLE     Deficiency of ligase IV leads to reduced NHEJ, accumulation of DNA
            damage, and can sensitize cells to cancer therapeutics
  JOURNAL   Genomics 115 (6), 110731 (2023)
   PUBMED   37871849
  REMARK    GeneRIF: Deficiency of ligase IV leads to reduced NHEJ,
            accumulation of DNA damage, and can sensitize cells to cancer
            therapeutics.
REFERENCE   5  (bases 1 to 3981)
  AUTHORS   Lee,Y.H., Wang,S.C., Li,C.H., Chen,L.H., Shen,T.C., Liu,Y.F.,
            Wang,Y.C., Tsai,C.W., Hsia,T.C., Bau,D.T. and Chang,W.S.
  TITLE     The Contribution of DNA Ligase 4 Genetic Variations to Taiwanese
            Lung Cancer
  JOURNAL   Anticancer Res 43 (8), 3447-3453 (2023)
   PUBMED   37500161
  REMARK    GeneRIF: The Contribution of DNA Ligase 4 Genetic Variations to
            Taiwanese Lung Cancer.
REFERENCE   6  (bases 1 to 3981)
  AUTHORS   Leon,D.A., Chenet,L., Shkolnikov,V.M., Zakharov,S., Shapiro,J.,
            Rakhmanova,G., Vassin,S. and McKee,M.
  TITLE     Huge variation in Russian mortality rates 1984-94: artefact,
            alcohol, or what?
  JOURNAL   Lancet 350 (9075), 383-388 (1997)
   PUBMED   9259651
REFERENCE   7  (bases 1 to 3981)
  AUTHORS   Critchlow,S.E., Bowater,R.P. and Jackson,S.P.
  TITLE     Mammalian DNA double-strand break repair protein XRCC4 interacts
            with DNA ligase IV
  JOURNAL   Curr Biol 7 (8), 588-598 (1997)
   PUBMED   9259561
REFERENCE   8  (bases 1 to 3981)
  AUTHORS   Grawunder,U., Wilm,M., Wu,X., Kulesza,P., Wilson,T.E., Mann,M. and
            Lieber,M.R.
  TITLE     Activity of DNA ligase IV stimulated by complex formation with
            XRCC4 protein in mammalian cells
  JOURNAL   Nature 388 (6641), 492-495 (1997)
   PUBMED   9242410
REFERENCE   9  (bases 1 to 3981)
  AUTHORS   Robins,P. and Lindahl,T.
  TITLE     DNA ligase IV from HeLa cell nuclei
  JOURNAL   J Biol Chem 271 (39), 24257-24261 (1996)
   PUBMED   8798671
REFERENCE   10 (bases 1 to 3981)
  AUTHORS   Wei,Y.F., Robins,P., Carter,K., Caldecott,K., Pappin,D.J., Yu,G.L.,
            Wang,R.P., Shell,B.K., Nash,R.A., Schar,P. et al.
  TITLE     Molecular cloning and expression of human cDNAs encoding a novel
            DNA ligase IV and DNA ligase III, an enzyme active in DNA repair
            and recombination
  JOURNAL   Mol Cell Biol 15 (6), 3206-3216 (1995)
   PUBMED   7760816
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL157762.13, BC037491.2 and
            BX648833.1.
            
            On Jun 2, 2019 this sequence version replaced NM_206937.1.
            
            Summary: The protein encoded by this gene is a DNA ligase that
            joins single-strand breaks in a double-stranded polydeoxynucleotide
            in an ATP-dependent reaction. This protein is essential for V(D)J
            recombination and DNA double-strand break (DSB) repair through
            nonhomologous end joining (NHEJ). This protein forms a complex with
            the X-ray repair cross complementing protein 4 (XRCC4), and further
            interacts with the DNA-dependent protein kinase (DNA-PK). Both
            XRCC4 and DNA-PK are known to be required for NHEJ. The crystal
            structure of the complex formed by this protein and XRCC4 has been
            resolved. Defects in this gene are the cause of LIG4 syndrome.
            Alternatively spliced transcript variants encoding the same protein
            have been observed. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 1. Variants 1-3 and 5-10 all encode the same
            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 :: BC037491.2, SRR14038195.1254629.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2147975 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000442234.6/ ENSP00000402030.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 AL157762.13        13593-13594         c
            3-3355              BC037491.2         1-3353
            3356-3430           BX648833.1         3437-3511
            3431-3899           BC037491.2         3427-3895
            3900-3977           BX648833.1         3981-4058
            3978-3981           BC037491.2         3974-3977
FEATURES             Location/Qualifiers
     source          1..3981
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q33.3"
     gene            1..3981
                     /gene="LIG4"
                     /gene_synonym="LIG4S"
                     /note="DNA ligase 4"
                     /db_xref="GeneID:3981"
                     /db_xref="HGNC:HGNC:6601"
                     /db_xref="MIM:601837"
     exon            1..53
                     /gene="LIG4"
                     /gene_synonym="LIG4S"
                     /inference="alignment:Splign:2.1.0"
     exon            54..126
                     /gene="LIG4"
                     /gene_synonym="LIG4S"
                     /inference="alignment:Splign:2.1.0"
     exon            127..3981
                     /gene="LIG4"
                     /gene_synonym="LIG4S"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3955..3960
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LIG4"
                     /gene_synonym="LIG4S"
                     /note="hexamer: AATAAA"
     polyA_site      3981
                     /gene="LIG4"
                     /gene_synonym="LIG4S"
                     /note="major polyA site"
ORIGIN      
        1 atcttctggc gccagcttcc ggcttagcgg ctgagcttca ggcttgacgt caggaaacca
       61 tcaagatctc attttacagc tgggattctc tggttcacag aggtaacgga gcttgcccga
      121 ggccagttaa acgagaagat tcatcaccgc tttgatggct gcctcacaaa cttcacaaac
      181 tgttgcatct cacgttcctt ttgcagattt gtgttcaact ttagaacgaa tacagaaaag
      241 taaaggacgt gcagaaaaaa tcagacactt cagggaattt ttagattctt ggagaaaatt
      301 tcatgatgct cttcataaga accacaaaga tgtcacagac tctttttatc cagcaatgag
      361 actaattctt cctcagctag aaagagagag aatggcctat ggaattaaag aaactatgct
      421 tgctaagctt tatattgagt tgcttaattt acctagagat ggaaaagatg ccctcaaact
      481 tttaaactac agaacaccca ctggaactca tggagatgct ggagactttg caatgattgc
      541 atattttgtg ttgaagccaa gatgtttaca gaaaggaagt ttaaccatac agcaagtaaa
      601 cgacctttta gactcaattg ccagcaataa ttctgctaaa agaaaagacc taataaaaaa
      661 gagccttctt caacttataa ctcagagttc agcacttgag caaaagtggc ttatacggat
      721 gatcataaag gatttaaagc ttggtgttag tcagcaaact atcttttctg tttttcataa
      781 tgatgctgct gagttgcata atgtcactac agatctggaa aaagtctgta ggcaactgca
      841 tgatccttct gtaggactca gtgatatttc tatcacttta ttttctgcat ttaaaccaat
      901 gctagctgct attgcagata ttgagcacat tgagaaggat atgaaacatc agagtttcta
      961 catagaaacc aagctagatg gtgaacgtat gcaaatgcac aaagatggag atgtatataa
     1021 atacttctct cgaaatggat ataactacac tgatcagttt ggtgcttctc ctactgaagg
     1081 ttctcttacc ccattcattc ataatgcatt caaagcagat atacaaatct gtattcttga
     1141 tggtgagatg atggcctata atcctaatac acaaactttc atgcaaaagg gaactaagtt
     1201 tgatattaaa agaatggtag aggattctga tctgcaaact tgttattgtg tttttgatgt
     1261 attgatggtt aataataaaa agctagggca tgagactctg agaaagaggt atgagattct
     1321 tagtagtatt tttacaccaa ttccaggtag aatagaaata gtgcagaaaa cacaagctca
     1381 tactaagaat gaagtaattg atgcattgaa tgaagcaata gataaaagag aagagggaat
     1441 tatggtaaaa caacctctat ccatctacaa gccagacaaa agaggtgaag ggtggttaaa
     1501 aattaaacca gagtatgtca gtggactaat ggatgaattg gacattttaa ttgttggagg
     1561 atattggggt aaaggatcac ggggtggaat gatgtctcat tttctgtgtg cagtagcaga
     1621 gaagccccct cctggtgaga agccatctgt gtttcatact ctctctcgtg ttgggtctgg
     1681 ctgcaccatg aaagaactgt atgatctggg tttgaaattg gccaagtatt ggaagccttt
     1741 tcatagaaaa gctccaccaa gcagcatttt atgtggaaca gagaagccag aagtatacat
     1801 tgaaccttgt aattctgtca ttgttcagat taaagcagca gagatcgtac ccagtgatat
     1861 gtataaaact ggctgcacct tgcgttttcc acgaattgaa aagataagag atgacaagga
     1921 gtggcatgag tgcatgaccc tggacgacct agaacaactt agggggaagg catctggtaa
     1981 gctcgcatct aaacaccttt atataggtgg tgatgatgaa ccacaagaaa aaaagcggaa
     2041 agctgcccca aagatgaaga aagttattgg aattattgag cacttaaaag cacctaacct
     2101 tactaacgtt aacaaaattt ctaatatatt tgaagatgta gagttttgtg ttatgagtgg
     2161 aacagatagc cagccaaagc ctgacctgga gaacagaatt gcagaatttg gtggttatat
     2221 agtacaaaat ccaggcccag acacgtactg tgtaattgca gggtctgaga acatcagagt
     2281 gaaaaacata attttgtcaa ataaacatga tgttgtcaag cctgcatggc ttttagaatg
     2341 ttttaagacc aaaagctttg taccatggca gcctcgcttt atgattcata tgtgcccatc
     2401 aaccaaagaa cattttgccc gtgaatatga ttgctatggt gatagttatt tcattgatac
     2461 agacttgaac caactgaagg aagtattctc aggaattaaa aattctaacg agcagactcc
     2521 tgaagaaatg gcttctctga ttgctgattt agaatatcgg tattcctggg attgctctcc
     2581 tctcagtatg tttcgacgcc acaccgttta tttggactcg tatgctgtta ttaatgacct
     2641 gagtaccaaa aatgagggga caaggttagc tattaaagcc ttggagcttc ggtttcatgg
     2701 agcaaaagta gtttcttgtt tagctgaggg agtgtctcat gtaataattg gggaagatca
     2761 tagtcgtgtt gcagatttta aagcttttag aagaactttt aagagaaagt ttaaaatcct
     2821 aaaagaaagt tgggtaactg attcaataga caagtgtgaa ttacaagaag aaaaccagta
     2881 tttgatttaa agctaggttt cctagtgagg aaagcctctg atctggcaga ctcattgcag
     2941 caggtggtaa tgataaaata ctaaactaca ttttattttt gtatcttaaa aatctatgcc
     3001 taaaaagtat cattacatat aggaaaacaa taattttaac ttttaaggtt gaaaagacaa
     3061 tagcccaaag ccaagaaaga aaaattatct tgaatgtagt attcaatgat tttttatgat
     3121 caaggtgaaa taaacagtct aaagaagagg tgtttttata atatccatat agaaatctag
     3181 aatttttact tagatactaa taaaatacat ttagaaactt ttaaagtcat gaaaaagcat
     3241 taaccttcta aacagtatat tctaaaaagt caaaacgtta acaatagttt ttatctaata
     3301 aaagcactgc aagaaaatag ggtagaattg ttacagctgg acttgtaaaa atatgtcttt
     3361 ttactcaggg tttaaaatgt cccatttaaa tatgaaatgt aaacaaattt gttttttaag
     3421 gttaaggcca aatgtaacaa taaaaccctg tcgatggttt tagctaaatt agaggaagtt
     3481 gtatgagact taatgatcta aaaacttaaa attgaattgg tttgattaaa aataaagctt
     3541 gcaattttaa aagtagctca catttaattt cttgtgtgaa atagaacatg ctttaaagga
     3601 agtattttta tgtgaatttg cattccagta taaatagtat tcacaaaaaa gattttccta
     3661 gattttatct attgaatagg tgtcaatatg gcatgcatat tgtaactttc attagaaata
     3721 agttgctttg acttttaaaa atgacatagt tagattattt aaagtcaatg tatatagtat
     3781 atattatgta tggatttata taccaaattt tggaatacag cctatctcat gaccatattg
     3841 aaatgtacgg aatttgatcc atgcgatact atgtgtgcat tatttgaaag ttattggaaa
     3901 ttttattcaa accgtggaac aaatgtatgt gattttgtta tacttcttaa tttaaataaa
     3961 atatttaatg cactattaaa a
//
