LOCUS       NM_000234               3125 bp    mRNA    linear   PRI 17-SEP-2024
DEFINITION  Homo sapiens DNA ligase 1 (LIG1), transcript variant 1, mRNA.
ACCESSION   NM_000234 XM_005258933
VERSION     NM_000234.3
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 3125)
  AUTHORS   Balu,K.E., Gulkis,M., Almohdar,D. and Caglayan,M.
  TITLE     Structures of LIG1 provide a mechanistic basis for understanding a
            lack of sugar discrimination against a ribonucleotide at the 3'-end
            of nick DNA
  JOURNAL   J Biol Chem 300 (5), 107216 (2024)
   PUBMED   38522520
  REMARK    GeneRIF: Structures of LIG1 provide a mechanistic basis for
            understanding a lack of sugar discrimination against a
            ribonucleotide at the 3'-end of nick DNA.
REFERENCE   2  (bases 1 to 3125)
  AUTHORS   Yu,M., Li,L. and Xu,P.
  TITLE     miR-325 Supresses Cell Proliferation and Migration in Non-Small
            Cell Lung Cancer via Targeting DNA Ligase 1 (LIG1)
  JOURNAL   Folia Biol (Praha) 70 (2), 95-103 (2024)
   PUBMED   39231317
  REMARK    GeneRIF: miR-325 Supresses Cell Proliferation and Migration in
            Non-Small Cell Lung Cancer via Targeting DNA Ligase 1 (LIG1).
REFERENCE   3  (bases 1 to 3125)
  AUTHORS   Chang,S.M., Yang,Y.C., Chen,G.L., 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 Association of DNA Ligase 1 Rs20579 Polymorphism With Lung
            Cancer Risk Among Taiwanese
  JOURNAL   In Vivo 37 (4), 1504-1510 (2023)
   PUBMED   37369482
  REMARK    GeneRIF: The Association of DNA Ligase 1 Rs20579 Polymorphism With
            Lung Cancer Risk Among Taiwanese.
REFERENCE   4  (bases 1 to 3125)
  AUTHORS   Bhandari,S.K., Wiest,N., Sallmyr,A., Du,R., Ferry,L., Defossez,P.A.
            and Tomkinson,A.E.
  TITLE     Unchanged PCNA and DNMT1 dynamics during replication in DNA ligase
            I-deficient cells but abnormal chromatin levels of non-replicative
            histone H1
  JOURNAL   Sci Rep 13 (1), 4363 (2023)
   PUBMED   36928068
  REMARK    GeneRIF: Unchanged PCNA and DNMT1 dynamics during replication in
            DNA ligase I-deficient cells but abnormal chromatin levels of
            non-replicative histone H1.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3125)
  AUTHORS   McNally,J.R., Ames,A.M., Admiraal,S.J. and O'Brien,P.J.
  TITLE     Human DNA ligases I and III have stand-alone end-joining
            capability, but differ in ligation efficiency and specificity
  JOURNAL   Nucleic Acids Res 51 (2), 796-805 (2023)
   PUBMED   36625284
  REMARK    GeneRIF: Human DNA ligases I and III have stand-alone end-joining
            capability, but differ in ligation efficiency and specificity.
REFERENCE   6  (bases 1 to 3125)
  AUTHORS   Webster,A.D., Barnes,D.E., Arlett,C.F., Lehmann,A.R. and Lindahl,T.
  TITLE     Growth retardation and immunodeficiency in a patient with mutations
            in the DNA ligase I gene
  JOURNAL   Lancet 339 (8808), 1508-1509 (1992)
   PUBMED   1351188
REFERENCE   7  (bases 1 to 3125)
  AUTHORS   Barnes,D.E., Tomkinson,A.E., Lehmann,A.R., Webster,A.D. and
            Lindahl,T.
  TITLE     Mutations in the DNA ligase I gene of an individual with
            immunodeficiencies and cellular hypersensitivity to DNA-damaging
            agents
  JOURNAL   Cell 69 (3), 495-503 (1992)
   PUBMED   1581963
REFERENCE   8  (bases 1 to 3125)
  AUTHORS   Barnes,D.E., Kodama,K., Tynan,K., Trask,B.J., Christensen,M., De
            Jong,P.J., Spurr,N.K., Lindahl,T. and Mohrenweiser,H.W.
  TITLE     Assignment of the gene encoding DNA ligase I to human chromosome
            19q13.2-13.3
  JOURNAL   Genomics 12 (1), 164-166 (1992)
   PUBMED   1733856
REFERENCE   9  (bases 1 to 3125)
  AUTHORS   Petrini,J.H., Huwiler,K.G. and Weaver,D.T.
  TITLE     A wild-type DNA ligase I gene is expressed in Bloom's syndrome
            cells
  JOURNAL   Proc Natl Acad Sci U S A 88 (17), 7615-7619 (1991)
   PUBMED   1881902
REFERENCE   10 (bases 1 to 3125)
  AUTHORS   Lasko,D.D., Tomkinson,A.E. and Lindahl,T.
  TITLE     Mammalian DNA ligases. Biosynthesis and intracellular localization
            of DNA ligase I
  JOURNAL   J Biol Chem 265 (21), 12618-12622 (1990)
   PUBMED   2197279
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC108318.1.
            
            On Nov 23, 2018 this sequence version replaced NM_000234.2.
            
            Summary: This gene encodes a member of the ATP-dependent DNA ligase
            protein family. The encoded protein functions in DNA replication,
            recombination, and the base excision repair process. Mutations in
            this gene that lead to DNA ligase I deficiency result in
            immunodeficiency and increased sensitivity to DNA-damaging agents.
            Disruption of this gene may also be associated with a variety of
            cancers. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Jan 2014].
            
            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 :: BC108318.1, M36067.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000263274.12/ ENSP00000263274.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3125              BC108318.1         260-3384
FEATURES             Location/Qualifiers
     source          1..3125
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     gene            1..3125
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /note="DNA ligase 1"
                     /db_xref="GeneID:3978"
                     /db_xref="HGNC:HGNC:6598"
                     /db_xref="MIM:126391"
     exon            1..104
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /inference="alignment:Splign:2.1.0"
     exon            105..178
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /inference="alignment:Splign:2.1.0"
     CDS             162..2921
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /EC_number="6.5.1.1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     polydeoxyribonucleotide synthase [ATP] 1; ligase I, DNA,
                     ATP-dependent"
                     /codon_start=1
                     /product="DNA ligase 1 isoform 1"
                     /protein_id="NP_000225.1"
                     /db_xref="CCDS:CCDS12711.1"
                     /db_xref="GeneID:3978"
                     /db_xref="HGNC:HGNC:6598"
                     /db_xref="MIM:126391"
                     /translation="MQRSIMSFFHPKKEGKAKKPEKEASNSSRETEPPPKAALKEWNG
                     VVSESDSPVKRPGRKAARVLGSEGEEEDEALSPAKGQKPALDCSQVSPPRPATSPENN
                     ASLSDTSPMDSSPSGIPKRRTARKQLPKRTIQEVLEEQSEDEDREAKRKKEEEEEETP
                     KESLTEAEVATEKEGEDGDQPTTPPKPLKTSKAETPTESVSEPEVATKQELQEEEEQT
                     KPPRRAPKTLSSFFTPRKPAVKKEVKEEEPGAPGKEGAAEGPLDPSGYNPAKNNYHPV
                     EDACWKPGQKVPYLAVARTFEKIEEVSARLRMVETLSNLLRSVVALSPPDLLPVLYLS
                     LNHLGPPQQGLELGVGDGVLLKAVAQATGRQLESVRAEAAEKGDVGLVAENSRSTQRL
                     MLPPPPLTASGVFSKFRDIARLTGSASTAKKIDIIKGLFVACRHSEARFIARSLSGRL
                     RLGLAEQSVLAALSQAVSLTPPGQEFPPAMVDAGKGKTAEARKTWLEEQGMILKQTFC
                     EVPDLDRIIPVLLEHGLERLPEHCKLSPGIPLKPMLAHPTRGISEVLKRFEEAAFTCE
                     YKYDGQRAQIHALEGGEVKIFSRNQEDNTGKYPDIISRIPKIKLPSVTSFILDTEAVA
                     WDREKKQIQPFQVLTTRKRKEVDASEIQVQVCLYAFDLIYLNGESLVREPLSRRRQLL
                     RENFVETEGEFVFATSLDTKDIEQIAEFLEQSVKDSCEGLMVKTLDVDATYEIAKRSH
                     NWLKLKKDYLDGVGDTLDLVVIGAYLGRGKRAGRYGGFLLASYDEDSEELQAICKLGT
                     GFSDEELEEHHQSLKALVLPSPRPYVRIDGAVIPDHWLDPSAVWEVKCADLSLSPIYP
                     AARGLVDSDKGISLRFPRFIRVREDKQPEQATTSAQVACLYRKQSQIQNQQGEDSGSD
                     PEDTY"
     exon            179..268
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /inference="alignment:Splign:2.1.0"
     exon            269..404
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /inference="alignment:Splign:2.1.0"
     exon            405..531
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /inference="alignment:Splign:2.1.0"
     exon            532..627
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /inference="alignment:Splign:2.1.0"
     exon            628..735
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /inference="alignment:Splign:2.1.0"
     exon            736..858
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /inference="alignment:Splign:2.1.0"
     exon            859..937
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /inference="alignment:Splign:2.1.0"
     exon            938..1018
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /inference="alignment:Splign:2.1.0"
     exon            1019..1075
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /inference="alignment:Splign:2.1.0"
     exon            1076..1248
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /inference="alignment:Splign:2.1.0"
     exon            1249..1415
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /inference="alignment:Splign:2.1.0"
     exon            1416..1492
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /inference="alignment:Splign:2.1.0"
     exon            1493..1584
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /inference="alignment:Splign:2.1.0"
     exon            1585..1684
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /inference="alignment:Splign:2.1.0"
     exon            1685..1770
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /inference="alignment:Splign:2.1.0"
     exon            1771..1886
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /inference="alignment:Splign:2.1.0"
     exon            1887..1982
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /inference="alignment:Splign:2.1.0"
     exon            1983..2093
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /inference="alignment:Splign:2.1.0"
     exon            2094..2165
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /inference="alignment:Splign:2.1.0"
     exon            2166..2310
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /inference="alignment:Splign:2.1.0"
     exon            2311..2393
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /inference="alignment:Splign:2.1.0"
     exon            2394..2546
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /inference="alignment:Splign:2.1.0"
     exon            2547..2600
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /inference="alignment:Splign:2.1.0"
     exon            2601..2744
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /inference="alignment:Splign:2.1.0"
     exon            2745..2837
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /inference="alignment:Splign:2.1.0"
     exon            2838..3125
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3103..3108
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /note="hexamer: AATAAA"
     polyA_site      3125
                     /gene="LIG1"
                     /gene_synonym="hLig1; IMD96; LIGI"
                     /note="major polyA site"
ORIGIN      
        1 agacgtctgc gcgcgaatgc cgtggcgcga acttgggact gcagaggcgc gcctggcgga
       61 tctgagtgtg ttgcccgggc agcggcgcgc gggaccaacg caaggagcag ctgacagacg
      121 aagaaaagtg ctggacagga agggagaatt ctgacgccaa catgcagcga agtatcatgt
      181 catttttcca ccccaagaaa gagggtaaag caaagaagcc tgagaaggag gcatccaata
      241 gcagcagaga gacggagccc cctccaaagg cggcactgaa ggagtggaat ggagtggtgt
      301 ccgagagtga ctctccggtg aagaggccag ggaggaaggc ggcccgggtc ctgggcagcg
      361 aaggggaaga ggaggatgaa gcccttagcc ctgctaaagg ccagaagcct gccctggact
      421 gctcacaggt ctccccgccc cgtcctgcca catctcctga gaacaatgct tccctctctg
      481 acacctctcc catggacagt tccccatcag ggattccgaa gcgtcgcaca gctcggaagc
      541 agctcccgaa acggaccatt caggaagtcc tggaagagca gagtgaggac gaggacagag
      601 aagccaagag gaagaaggag gaggaagaag aggagacccc gaaagaaagc ctcacagagg
      661 ctgaagtggc cacagagaag gaaggagaag acggggacca gcccaccacg cctcccaagc
      721 ccctaaagac ctccaaagca gagaccccga cggaaagcgt ttcagagcct gaggtggcca
      781 cgaagcagga actgcaggag gaggaagagc agaccaagcc tccccgcaga gctcccaaga
      841 cgctcagcag cttcttcacc ccccggaagc cagcagtcaa aaaagaagtg aaggaagagg
      901 agccaggggc tccaggaaag gagggagctg ctgagggacc cctggatcca tctggttaca
      961 atcctgccaa gaacaactat catcccgtgg aagatgcctg ctggaaaccg ggccagaagg
     1021 ttccttacct ggctgtggcc cggacgtttg agaagatcga ggaggtgtct gctcggctcc
     1081 ggatggtgga gacgctgagc aacttgctgc gctccgtggt ggccctgtcg cctccagacc
     1141 tcctccctgt cctctacctc agcctcaacc accttgggcc accccagcag ggcctggagc
     1201 ttggcgtggg tgatggtgtc cttctcaagg cagtggccca ggccacaggt cggcagctgg
     1261 agtccgtccg ggctgaggca gccgagaaag gcgacgtggg gctggtggcc gagaacagcc
     1321 gcagcaccca gaggctcatg ctgccaccac ctccgctcac tgcctccggg gtcttcagca
     1381 agttccgcga catcgccagg ctcactggca gtgcttccac agccaagaag atagacatca
     1441 tcaaaggcct ctttgtggcc tgccgccact cagaagcccg gttcatcgct aggtccctga
     1501 gcggacggct gcgccttggg ctggcagagc agtcggtgct ggctgccctc tcccaggcag
     1561 tgagcctcac gcccccgggc caagaattcc caccagccat ggtggatgct gggaagggca
     1621 agacagcaga ggccagaaag acgtggctgg aggagcaagg catgatcctg aagcagacgt
     1681 tctgcgaggt tcccgacctg gaccgaatta tccccgtgct gctggagcac ggcctggaac
     1741 gtctcccgga gcactgcaag ctgagcccag ggattcccct gaaaccaatg ttggcccatc
     1801 ccacccgggg catcagcgag gtcctgaaac gctttgagga ggcagctttc acctgcgaat
     1861 acaaatatga cgggcagagg gcacagatcc acgccctgga aggcggggag gtgaagatct
     1921 tcagcaggaa tcaggaagac aacactggga agtacccgga catcatcagc cgcatcccca
     1981 agattaaact cccatcggtc acatccttca tcctggacac cgaagccgtg gcttgggacc
     2041 gggaaaagaa gcagatccag ccattccaag tgctcaccac ccgcaaacgc aaggaggtgg
     2101 atgcgtctga gatccaggtg caggtgtgtt tgtacgcctt cgacctcatc tacctcaatg
     2161 gagagtccct ggtacgtgag cccctttccc ggcgccggca gctgctccgg gagaactttg
     2221 tggagacaga gggcgagttt gtcttcgcca cctccctgga caccaaggac atcgagcaga
     2281 tcgccgagtt cctggagcag tcagtgaaag actcctgcga ggggctgatg gtgaagaccc
     2341 tggatgttga tgccacctac gagatcgcca agagatcgca caactggctc aagctgaaga
     2401 aggactacct tgatggcgtg ggtgacaccc tggacctggt ggtgatcggc gcctacctgg
     2461 gccgggggaa gcgggccggc cggtacgggg gcttcctgct ggcctcctac gacgaggaca
     2521 gtgaggagct gcaggccata tgcaagcttg gaactggctt cagtgatgag gagctggagg
     2581 agcatcacca gagcctcaag gcgctggtgc tgcccagccc acgcccttac gtgcggatag
     2641 atggcgctgt gattcccgac cactggctgg accccagcgc tgtgtgggag gtgaagtgcg
     2701 ctgacctctc cctctctccc atctaccctg ctgcgcgggg cctggtggat agtgacaagg
     2761 gcatctccct tcgcttccct cggtttattc gagtccgtga agacaagcag ccggagcagg
     2821 ccaccaccag tgctcaggtg gcctgtttgt accggaagca aagtcagatt cagaaccaac
     2881 aaggcgagga ctcaggctct gaccctgaag atacctacta agccctcgcc ctcctagggc
     2941 ctgggtacag ggcatgagtt ggacggaccc cagggttatt attgcctttg ctttttagca
     3001 aatctgctgt ggcaggctgt ggattttgag agtcagggga ggggtgtgtg tgtgaggggg
     3061 tggcttactc cggagtctgg gattcatccc gtcatttctt tcaataaata attattggat
     3121 agcta
//
