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    LIG1 ligase I, DNA, ATP-dependent [ Homo sapiens ]

    Gene ID: 3978, updated on 19-May-2012

    Summary

    Official Symbol
    LIG1provided by HGNC
    Official Full Name
    ligase I, DNA, ATP-dependentprovided by HGNC
    Primary source
    HGNC:6598
    See related
    Ensembl:ENSG00000105486; HPRD:00534; MIM:126391
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MGC117397; MGC130025
    Summary
    LIG1 encodes DNA ligase I, with functions in DNA replication and the base excision repair process. Mutations in LIG1 that lead to DNA ligase I deficiency result in immunodeficiency and increased sensitivity to DNA-damaging agents. [provided by RefSeq, Jul 2008]

    Genomic context

    Location :
    19q13.2-q13.3
    Sequence :
    Chromosome: 19; NC_000019.9 (48618703..48673560, complement)
    See LIG1 in Epigenomics, MapViewer

    Chromosome 19 - NC_000019.9Genomic Context describing neighboring genes Neighboring gene calcium binding protein 5 Neighboring gene phospholipase A2, group IVC (cytosolic, calcium-independent) Neighboring gene uncharacterized LOC100505754 Neighboring gene chromosome 19 open reading frame 68 Neighboring gene caspase recruitment domain family, member 8 Neighboring gene vomeronasal 1 receptor 97 pseudogene

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_000225.1 NP_002583.1 PCNA    BIND  PubMed LIG1 is a PCNA-binding protein 
    P18858 P68400 CSNK2A1    HPRD  PubMed  
    P18858 P49441 INPP1    HPRD  PubMed  
    P18858 P49959 MRE11A    HPRD  PubMed  
    P18858 P12004 PCNA    HPRD  PubMed  
    P18858 Q13509 TUBB3    HPRD  PubMed  
    BioGRID:110166 BioGRID:110501 MRE11A    BioGRID  PubMed Two-hybrid 
    BioGRID:110166 BioGRID:111142 PCNA    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110166 BioGRID:111929 RGS2    BioGRID  PubMed Two-hybrid 
    BioGRID:110166 BioGRID:112497 SUMO2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110166 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 

    General gene information

    Markers

    Homology

    • Homologs of the LIG1 gene: The LIG1 gene is conserved in chimpanzee, , dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, , S.pombe, , N.crassa, A.thaliana, and rice.
    • Map Viewer (Mouse, Rat)

    Pathways from BioSystems

    • Base Excision Repair, organism-specific biosystem (from REACTOME)
      Base Excision Repair, organism-specific biosystemOf the three major pathways involved in the repair of nucleotide damage in DNA, base excision repair (BER) involves the greatest number of individual enzymatic activities. This is the consequence of...
    • Base excision repair, organism-specific biosystem (from KEGG)
      Base excision repair, organism-specific biosystemBase excision repair (BER) is the predominant DNA damage repair pathway for the processing of small base lesions, derived from oxidation and alkylation damages. BER is normally defined as DNA repair ...
    • Base excision repair, conserved biosystem (from KEGG)
      Base excision repair, conserved biosystemBase excision repair (BER) is the predominant DNA damage repair pathway for the processing of small base lesions, derived from oxidation and alkylation damages. BER is normally defined as DNA repair ...
    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
      Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
    • Chromosome Maintenance, organism-specific biosystem (from REACTOME)
      Chromosome Maintenance, organism-specific biosystemChromosome maintenance is critical for stable chromosome function in mammalian and other eukaryotic cells. Aspects of telomere maintenance and nucleosome assembly are covered here.
    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. These cellular mechanisms that must cope with the plethora of DNA base pair ad...
    • DNA Replication, organism-specific biosystem (from REACTOME)
      DNA Replication, organism-specific biosystemStudies in the past decade have suggested that the basic mechanism of DNA replication initiation is conserved in all kingdoms of life. Initiation in unicellular eukaryotes, in particular Saccharomyce...
    • DNA replication, organism-specific biosystem (from KEGG)
      DNA replication, organism-specific biosystemA complex network of interacting proteins and enzymes is required for DNA replication. Generally, DNA replication follows a multistep enzymatic pathway. At the DNA replication fork, a DNA helicase (D...
    • DNA replication, conserved biosystem (from KEGG)
      DNA replication, conserved biosystemA complex network of interacting proteins and enzymes is required for DNA replication. Generally, DNA replication follows a multistep enzymatic pathway. At the DNA replication fork, a DNA helicase (D...
    • DNA strand elongation, organism-specific biosystem (from REACTOME)
      DNA strand elongation, organism-specific biosystemAccurate and efficient genome duplication requires coordinated processes to replicate two template strands at eucaryotic replication forks. Knowledge of the fundamental reactions involved in replicat...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
      Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
    • Early Phase of HIV Life Cycle, organism-specific biosystem (from REACTOME)
      Early Phase of HIV Life Cycle, organism-specific biosystemIn the early phase of HIV lifecycle, an active virion binds and enters a target cell mainly by specific interactions of the viral envelope proteins with host cell surface receptors. The virion core...
    • Extension of Telomeres, organism-specific biosystem (from REACTOME)
      Extension of Telomeres, organism-specific biosystemTelomerase acts as reverse transcriptase in the elongation of telomeres (Smogorzewska and de Lange 2004).
    • Gap-filling DNA repair synthesis and ligation in GG-NER, organism-specific biosystem (from REACTOME)
      Gap-filling DNA repair synthesis and ligation in GG-NER, organism-specific biosystemThe resultant gap is filled by polymerase activities of Pol delta and Pol epsilon. Accessory replication protein complexes of RPA, PCNA and RFC play a role in this synthesis. DNA Ligase 1 seals the ...
    • Gap-filling DNA repair synthesis and ligation in TC-NER, organism-specific biosystem (from REACTOME)
      Gap-filling DNA repair synthesis and ligation in TC-NER, organism-specific biosystemPolymerization is carried out by DNA polymerases, delta and epsilon.
    • Global Genomic NER (GG-NER), organism-specific biosystem (from REACTOME)
      Global Genomic NER (GG-NER), organism-specific biosystemGG-NER is considered to be transcription-independent, removing lesions from non-transcribed regions of genome in addition to non-transcribed strands of transcribed regions. The three events that char...
    • HIV Infection, organism-specific biosystem (from REACTOME)
      HIV Infection, organism-specific biosystemThe global pandemic of Human Immunodeficiency Virus (HIV) infection has resulted in tens of millions of people infected by the virus and millions more affected. UNAIDS estimates around 40 million ...
    • HIV Life Cycle, organism-specific biosystem (from REACTOME)
      HIV Life Cycle, organism-specific biosystemThe life cycle of HIV-1 is divided into early and late phases, shown schematically in the figure. In the early phase, an HIV-1 virion binds to receptors and co-receptors on the human host cell surfac...
    • Homologous Recombination Repair, organism-specific biosystem (from REACTOME)
      Homologous Recombination Repair, organism-specific biosystemThe HRR pathway is an "error free" DNA repair mechanism that utilizes information encoded by homologous sequence to repair double-strand breaks (DSBs). HRR acts on DSBs occurring within replicated DN...
    • Homologous recombination repair of replication-independent double-strand breaks, organism-specific biosystem (from REACTOME)
      Homologous recombination repair of replication-independent double-strand breaks, organism-specific biosystemHomologous recombination repair of replication-independent double-strand breaks requires the activation of ATM followed by ATM mediated phosphorylation of DNA repair proteins. DNA repair and signalin...
    • Lagging Strand Synthesis, organism-specific biosystem (from REACTOME)
      Lagging Strand Synthesis, organism-specific biosystemDue to the antiparallel nature of DNA, DNA polymerization is unidirectional, and one strand is synthesized discontinuously. This strand is called the lagging strand. Although the polymerase switching...
    • Mismatch repair, organism-specific biosystem (from KEGG)
      Mismatch repair, organism-specific biosystemDNA mismatch repair (MMR) is a highly conserved biological pathway that plays a key role in maintaining genomic stability. MMR corrects DNA mismatches generated during DNA replication, thereby preven...
    • Mismatch repair, conserved biosystem (from KEGG)
      Mismatch repair, conserved biosystemDNA mismatch repair (MMR) is a highly conserved biological pathway that plays a key role in maintaining genomic stability. MMR corrects DNA mismatches generated during DNA replication, thereby preven...
    • Nucleotide Excision Repair, organism-specific biosystem (from REACTOME)
      Nucleotide Excision Repair, organism-specific biosystemNER was first described in the model organism E. coli in the early 1960s as a process whereby bulky base damage is enzymatically removed from DNA, facilitating the recovery of DNA synthesis and cell ...
    • Nucleotide excision repair, organism-specific biosystem (from KEGG)
      Nucleotide excision repair, organism-specific biosystemNucleotide excision repair (NER) is a mechanism to recognize and repair bulky DNA damage caused by compounds, environmental carcinogens, and exposure to UV-light. In humans hereditary defects in the ...
    • Nucleotide excision repair, conserved biosystem (from KEGG)
      Nucleotide excision repair, conserved biosystemNucleotide excision repair (NER) is a mechanism to recognize and repair bulky DNA damage caused by compounds, environmental carcinogens, and exposure to UV-light. In humans hereditary defects in the ...
    • Processive synthesis on the C-strand of the telomere, organism-specific biosystem (from REACTOME)
      Processive synthesis on the C-strand of the telomere, organism-specific biosystemOnce polymerase switching from pol alpha to pol delta is complete the processive synthesis of a short run of DNA called an Okazaki fragment begins. DNA synthesis is discontinuous and as the extending...
    • Processive synthesis on the lagging strand, organism-specific biosystem (from REACTOME)
      Processive synthesis on the lagging strand, organism-specific biosystemThe key event that allows the processive synthesis on the lagging strand, is polymerase switching from pol alpha to pol delta, as on the leading strand. However, the processive synthesis on the laggi...
    • Removal of DNA patch containing abasic residue, organism-specific biosystem (from REACTOME)
      Removal of DNA patch containing abasic residue, organism-specific biosystemDuring removal of DNA patch containing abasic residue, DNA glycosylase is displaced by APE1 which endonucleolytically cleaves the 5' side of the base-free deoxyribose residue. POL Beta is recruite...
    • Resolution of AP sites via the multiple-nucleotide patch replacement pathway, organism-specific biosystem (from REACTOME)
      Resolution of AP sites via the multiple-nucleotide patch replacement pathway, organism-specific biosystemWhile the single-nucleotide replacement pathway appears to facilitate the repair of most damaged bases, an alternative BER pathway is evoked when the structure of the terminal sugar phosphate is such...
    • Resolution of Abasic Sites (AP sites), organism-specific biosystem (from REACTOME)
      Resolution of Abasic Sites (AP sites), organism-specific biosystemResolution of AP sites can occur through the single-nucleotide replacement pathway or through the multiple-nucleotide patch replacement pathway.
    • Resolution of D-loop structures, organism-specific biosystem (from REACTOME)
      Resolution of D-loop structures, organism-specific biosystemOnce repair synthesis has occurred, the D-loop structure may be resolved either through Holliday junction intermediates of through synthesis-dependent strand-annealing.
    • Resolution of D-loop structures through Holliday junction intermediates, organism-specific biosystem (from REACTOME)
      Resolution of D-loop structures through Holliday junction intermediates, organism-specific biosystemFollowing the synthesis of new DNA at resected 5' ends of the DSB, the heterologous DNA molecules may be ligated resulting in the formation of Holliday junctions. The Holliday structures are then cl...
    • S Phase, organism-specific biosystem (from REACTOME)
      S Phase, organism-specific biosystemDNA synthesis occurs in the S phase, or the synthesis phase, of the cell cycle. The cell duplicates its hereditary material, and two copies of the chromosome are formed. As DNA replication continu...
    • Synthesis of DNA, organism-specific biosystem (from REACTOME)
      Synthesis of DNA, organism-specific biosystemThe actual synthesis of DNA occurs in the S phase of the cell cycle. This includes the initiation of DNA replication, when the first nucleotide of the new strand is laid down during the synthesis of ...
    • Telomere C-strand (Lagging Strand) Synthesis, organism-specific biosystem (from REACTOME)
      Telomere C-strand (Lagging Strand) Synthesis, organism-specific biosystemDue to the antiparallel nature of DNA, DNA polymerization is unidirectional, and one strand is synthesized discontinuously. This strand is called the lagging strand. Although the polymerase switching...
    • Telomere Maintenance, organism-specific biosystem (from REACTOME)
      Telomere Maintenance, organism-specific biosystemTelomeres are protein-DNA complexes at the ends of linear chromosomes that are important for genome stability. Telomeric DNA in humans, as in many eukaryotic organisms, consists of tandem repeats (B...
    • Transcription-coupled NER (TC-NER), organism-specific biosystem (from REACTOME)
      Transcription-coupled NER (TC-NER), organism-specific biosystemThe preferential repair of UV-induced damage in transcribed strands of active genes is known as Transcription-coupled NER (TC-NER). Impairment of the ability for TC-NER results in the onset of a sev...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA ligase (ATP) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    DNA ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ligase activity IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    DNA ligation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    DNA ligation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA ligation involved in DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    DNA metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    DNA recombination IEA
    Inferred from Electronic Annotation
    more info
     
    DNA repair TAS
    Traceable Author Statement
    more info
     
    DNA replication IEA
    Inferred from Electronic Annotation
    more info
     
    DNA strand elongation involved in DNA replication TAS
    Traceable Author Statement
    more info
     
    S phase of mitotic cell cycle TAS
    Traceable Author Statement
    more info
     
    NOT V(D)J recombination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    anatomical structure morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    base-excision repair TAS
    Traceable Author Statement
    more info
     
    cell division IEA
    Inferred from Electronic Annotation
    more info
     
    double-strand break repair TAS
    Traceable Author Statement
    more info
     
    double-strand break repair via homologous recombination TAS
    Traceable Author Statement
    more info
     
    mitotic cell cycle TAS
    Traceable Author Statement
    more info
     
    nucleotide-excision repair TAS
    Traceable Author Statement
    more info
     
    nucleotide-excision repair, DNA gap filling TAS
    Traceable Author Statement
    more info
     
    telomere maintenance TAS
    Traceable Author Statement
    more info
     
    telomere maintenance via recombination TAS
    Traceable Author Statement
    more info
     
    telomere maintenance via semi-conservative replication TAS
    Traceable Author Statement
    more info
     
    transcription-coupled nucleotide-excision repair TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    DNA ligase 1
    Names
    DNA ligase 1
    polydeoxyribonucleotide synthase [ATP] 1
    NP_000225.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007395.1 RefSeqGene

      Range
      5001..59858
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000234.1NP_000225.1  DNA ligase 1

      Status: REVIEWED

      Source sequence(s)
      M36067
      Consensus CDS
      CCDS12711.1
      UniProtKB/Swiss-Prot
      P18858
      Related
      ENSP00000263274, ENST00000263274
      Conserved Domains (3) summary
      cd07969
      Location:754899
      Blast Score: 680
      OBF_DNA_ligase_I; The Oligonucleotide/oligosaccharide binding (OB)-fold domain of ATP-dependent DNA ligase I is a DNA-binding module that is part of the catalytic core unit.
      cd07900
      Location:531749
      Blast Score: 1145
      Adenylation_DNA_ligase_I_Euk; Adenylation domain of eukaryotic DNA Ligase I
      TIGR00574
      Location:356898
      Blast Score: 1441
      dnl1; DNA ligase I, ATP-dependent (dnl1)

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000019.9 Reference GRCh37.p5 Primary Assembly

      Range
      48618703..48673560, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000151.1 Alternate HuRef

      Range
      45000496..45055385, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

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