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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

LIG1 Gene

protein-coding   GIFtS: 74
GCID: GC19M048618

Ligase I, DNA, ATP-Dependent

Microbiology & Infectious Diseases Congress
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at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Ligase I, DNA, ATP-Dependent1 2
Polydeoxyribonucleotide Synthase [ATP] 12 3
EC 6.5.1.13 8
DNA Ligase 12
DNA Ligase I3

External Ids:    HGNC: 65981   Entrez Gene: 39782   Ensembl: ENSG000001054867   OMIM: 1263915   UniProtKB: P188583   

Export aliases for LIG1 gene to outside databases

Previous GC identifers: GC19M049263 GC19M048986 GC19M053294 GC19M053310 GC19M045000


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for LIG1 Gene:
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)

GeneCards Summary for LIG1 Gene: 
LIG1 (ligase I, DNA, ATP-dependent) is a protein-coding gene. Diseases associated with LIG1 include bloom syndrome, and dna ligase iv deficiency, and among its related super-pathways are Lagging Strand Synthesis and Global Genomic NER (GG-NER). GO annotations related to this gene include DNA ligase activity and DNA ligase (ATP) activity.

UniProtKB/Swiss-Prot: DNLI1_HUMAN, P18858
Function: DNA ligase that seals nicks in double-stranded DNA during DNA replication, DNA recombination and DNA
repair

summary for LIG1 Gene:
Ligases catalyze the joining of two molecules with concomitant hydrolysis of the diphosphate bond in ATP or
a similar triphosphate. They belong to the E.C. 6 class, which also includes synthases and carboxylases. DNA
ligases play an integral role in DNA repair and replication: they catalyze the formation of phosphodiester
bonds, using ATP as a co-factor. These enzymes are divided into three classes: DNA ligase I, III and IV. DNA
ligase I links Okazaki fragments to form a continuous strand of DNA. DNA ligase III is involved in base
excision repair. Finally, DNA ligase IV is involved in the repair of DNA double-strand breaks by
non-homologous end joining (NHEJ).

Gene Wiki entry for LIG1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the LIG1 gene promoter:
         Elk-1   MAZR   MyoD   Nkx2-5   NF-E2 p45   YY1   GATA-2   E2F-1   E2F   NF-E2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLIG1 promoter sequence
   Search SABiosciences Chromatin IP Primers for LIG1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LIG1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.2-q13.3   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.2-q13.3

LIG1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LIG1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M048618:  view genomic region     (about GC identifiers)

Start:
48,618,702 bp from pter      End:
48,673,860 bp from pter
Size:
55,159 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DNLI1_HUMAN, P18858 (See protein sequence)
Recommended Name: DNA ligase 1  
Size: 919 amino acids; 101736 Da
Cofactor: Magnesium
Subcellular location: Nucleus
1 PDB 3D structure from and Proteopedia for LIG1:
1X9N (3D)    
Secondary accessions: B2RAI8 Q32P23

Explore the universe of human proteins at neXtProt for LIG1: NX_P18858

Explore proteomics data for LIG1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P18858

  • 4/10 DME Specific Peptides for LIG1 (P18858) (see all 10)
     RFPRFIR  GLAEQSVL  NWLKLKKDY  VWEVKCADL 

    LIG1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LIG1 Protein Expression
    REFSEQ proteins: NP_000225.1  
    ENSEMBL proteins: 
     ENSP00000263274   ENSP00000471380   ENSP00000442841   ENSP00000471836   ENSP00000472331  
     ENSP00000445928   ENSP00000471861   ENSP00000469638   ENSP00000472085   ENSP00000441531  
    Reactome Protein details: P18858
    Human Recombinant Protein Products for LIG1: 
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    Novus Biologicals LIG1 Protein
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for LIG1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IBA--
    GO:0005654nucleoplasm TAS--
    GO:0005694chromosome IBA--
    GO:0005739mitochondrion IBA--

    LIG1 for ontologies           About GeneDecksing



    LIG1 Antibody Products: 
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    Cloud-Clone Corp. CLIAs for LIG1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (see all 6):
     IPR012340 NA-bd_OB-fold
     IPR012308 DNA_ligase_ATP-dep_N
     IPR012310 DNA_ligase_ATP-dep_cent
     IPR016059 DNA_ligase_ATP-dep_CS
     IPR012309 DNA_ligase_ATP-dep_C

    Graphical View of Domain Structure for InterPro Entry P18858

    ProtoNet protein and cluster: P18858

    1 Blocks protein domain: IPB012308 DNA ligase

    UniProtKB/Swiss-Prot: DNLI1_HUMAN, P18858
    Similarity: Belongs to the ATP-dependent DNA ligase family


    LIG1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DNLI1_HUMAN, P18858
    Function: DNA ligase that seals nicks in double-stranded DNA during DNA replication, DNA recombination and DNA
    repair
    Catalytic activity: ATP + (deoxyribonucleotide)(n) + (deoxyribonucleotide)(m) = AMP + diphosphate +
    (deoxyribonucleotide)(n+m)

         Genatlas biochemistry entry for LIG1:
    DNA ligase I,ATP-dependent,yeast cdc9 homolog,interacting with FEN1 to inhibit DNA synthesis by DNA polymerase
    delta/PCNA complex,required for fetal liver erythropoiesis

         Enzyme Number (IUBMB): EC 6.5.1.11 2

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003909DNA ligase activity IDA9809069
    GO:0003910DNA ligase (ATP) activity IBA--
    GO:0005524ATP binding IEA--
    GO:0046872metal ion binding IEA--
         
    LIG1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for LIG1:
     Upregulation of Wnt/beta-caten 

         10 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Lig1):
     cellular  embryogenesis  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  integument  liver/biliary system  mortality/aging  tumorigenesis 

    LIG1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for LIG1: Lig1tm2Dwm Lig1tm1Dwm

       inGenious Targeting Laboratory - Custom generated mouse model solutions for LIG1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for LIG1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LIG1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LIG1 

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate LIG1:
    hsa-miR-944
    SwitchGear 3'UTR luciferase reporter plasmidLIG1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LIG1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for LIG1 About   (see all 13)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Lagging Strand Synthesis
    Gap-filling DNA repair synthesis and ligation in TC-NER0.94
    Processive synthesis on the C-strand of the telomere0.91
    Gap-filling DNA repair synthesis and ligation in GG-NER0.94
    DNA strand elongation0.65
    Processive synthesis on the lagging strand0.93
    DNA replication0.63
    Telomere C-strand (Lagging Strand) Synthesis0.92
    Mismatch repair0.56
    2Global Genomic NER (GG-NER)
    Global Genomic NER (GG-NER)0.70
    Nucleotide Excision Repair Pathway0.49
    Nucleotide excision repair0.70
    3Resolution of Abasic Sites (AP sites)
    Resolution of Abasic Sites (AP sites)0.89
    Base Excision Repair0.89
    Resolution of AP sites via the multiple-nucleotide patch replacement pathway0.89
    Base excision repair0.53
    Removal of DNA patch containing abasic residue0.89
    4Cell cycle Transition and termination of DNA replacation
    Cell cycle Transition and termination of DNA replication0.95
    Cell cycle Transition and termination of DNA replacation0.95
    5Nucleotide Excision Repair
    Nucleotide Excision Repair0.90
    DNA Repair0.46
    Transcription-coupled NER (TC-NER)0.90

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for LIG1
        Cell cycle Transition and termination of DNA replacation

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for LIG1
        DNA Repair Mechanisms
    Nucleotide Excision Repair Pathway

    1 GeneGo (Thomson Reuters) Pathway for LIG1
        Cell cycle Transition and termination of DNA replication

    2 BioSystems Pathways for LIG1
        Mismatch repair
    Integrated Pancreatic Cancer Pathway

    5/28        Reactome Pathways for LIG1 (see all 28)
        Extension of Telomeres
    Processive synthesis on the lagging strand
    Telomere Maintenance
    DNA Repair
    DNA Replication


    4         Kegg Pathways  (Kegg details for LIG1):
        DNA replication
    Base excision repair
    Nucleotide excision repair
    Mismatch repair


    LIG1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for LIG1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    5/48 Interacting proteins for LIG1 (P188582, 3 ENSP000002632744) via UniProtKB, MINT, STRING, and/or I2D (see all 48)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    INPP1P494412, 3, ENSP000003254234MINT-63777 I2D: score=4 STRING: ENSP00000325423
    RGS2P412202, 3, ENSP000002353824MINT-8268834 I2D: score=2 STRING: ENSP00000235382
    PCNAP120043, ENSP000003684384I2D: score=8 STRING: ENSP00000368438
    ENSG00000258947Q135093I2D: score=2 
    MRE11AP499593, ENSP000003258634I2D: score=2 STRING: ENSP00000325863
    About this table

    Gene Ontology (GO): 5/22 biological process terms (GO ID links to tree view) (see all 22):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0000722telomere maintenance via recombination TAS--
    GO:0000723telomere maintenance TAS--
    GO:0000724double-strand break repair via homologous recombination TAS--
    GO:0006259DNA metabolic process TAS2204063

    LIG1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    LIG1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for LIG1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    L189 DNA ligase I, III and IV inhibitor [64232-83-3]

    4 HMDB Compounds for LIG1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    1 DrugBank Compound for LIG1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    BleomycinBleocin (see all 8)11056-06-7targetinhibitor17202402

    10/19 Novoseek inferred chemical compound relationships for LIG1 gene (see all 19)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    f-ara-atp 79.6 6 1310314 (4), 8698042 (1), 7881348 (1)
    phosphodiester 57.3 1 9371766 (1)
    aphidicolin 50.2 9 12372342 (4), 11452007 (1)
    3-aminobenzamide 49.4 2 8565116 (1)
    polynucleotide 42.3 4 9742240 (2), 8471077 (1)
    nad+ 38.3 2 16361267 (1), 15901723 (1)
    danazol 27.2 1 1939197 (1)
    atp 21.8 3 1508676 (1), 17688957 (1), 15901723 (1), 1569068 (1)
    adpribose 19.8 1 7898478 (1)
    cytarabine 18 8 12372342 (4), 11948132 (1)

    Search CenterWatch for drugs/clinical trials and news about LIG1 / DNLI1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for LIG1 gene: 
    NM_000234.1  

    Unigene Cluster for LIG1:

    Ligase I, DNA, ATP-dependent
    Hs.1770  [show with all ESTs]
    Unigene Representative Sequence: AB208791
    18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000263274(uc010xze.1 uc002phz.1 uc002pia.1 uc002pib.1 uc010xzf.1 uc010xzg.1)
    ENST00000597146 ENST00000599322 ENST00000594759 ENST00000427526 ENST00000594067
    ENST00000601091 ENST00000596672 ENST00000596332 ENST00000596457 ENST00000597901
    ENST00000542460(uc010xzh.1) ENST00000595758 ENST00000596104 ENST00000599165
    ENST00000596549 ENST00000593425 ENST00000600055
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LIG1

    Additional mRNA sequence: 

    AB208791.1 AK225863.1 AK297296.1 AK300370.1 AK300607.1 AK303644.1 AK314210.1 BC108318.1 
    BC110622.2 M36067.1 

    13 DOTS entries:

    DT.448549  DT.97796314  DT.100821564  DT.91866213  DT.100678667  DT.100802814  DT.40132859  DT.98131741 
    DT.121446143  DT.91760966  DT.91760975  DT.121446147  DT.97773816 

    24/277 AceView cDNA sequences (see all 277):

    AL705915 BX325045 CB270211 AU120985 BU154275 BE794374 CB155211 AU143382 
    BG774713 CB529685 AL042689 AL602262 BF437306 CR619348 CR599472 BU170774 
    BM548700 BG257399 BM472230 AI867071 BE221455 BU168385 BI916625 BQ221492 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for LIG1 (see all 11)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^
    SP1:              -                             -           -     -           -                                                           -                     
    SP2:                                                                                                                                                            
    SP3:                                                              -           -                                                                                 
    SP4:                                                                                                                                                            
    SP5:                                                                          -                                                                                 

    ExUns: 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30 ^ 31
    SP1:              -                             -                             -                           
    SP2:                                                                                                      
    SP3:                                                                                                      
    SP4:                                                                                                      
    SP5:                                                                                                      


    ECgene alternative splicing isoforms for LIG1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    LIG1 expression in normal human tissues (normalized intensities)      LIG1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGTTGGACGG
    LIG1 Expression
    About this image


    LIG1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/43 selected tissues (see all 43) fully expand
     
     Brain (Nervous System)    fully expand to see all 11 entries
             Thalamus
             ganglion/cranial   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   

    See LIG1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LIG1

    SOURCE GeneReport for Unigene cluster: Hs.1770
        SABiosciences Expression via Pathway-Focused PCR Arrays including LIG1: 
              DNA Damage Signaling Pathway in human mouse rat
              DNA Repair in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for LIG1 gene from 10/24 species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lig11 , 5 ligase I, DNA, ATP-dependent1, 5 82.68(n)1
    84.46(a)1
      7 (7.82 cM)5
    168811  NM_001083188.11  NP_001076657.11 
     132772835 
    chicken
    (Gallus gallus)
    Aves LIG11 ligase I, DNA, ATP-dependent 68.41(n)
    67.51(a)
      430516  XM_003643130.1  XP_003643178.1 
    lizard
    (Anolis carolinensis)
    Reptilia LIG16
    ligase I, DNA, ATP-dependent
    58(a)
    1 ↔ 1
    GL343253.1(1532059-1556199)
    African clawed frog
    (Xenopus laevis)
    Amphibia ligI2 ligase I 71.87(n)    L43496.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BM532575.12   -- 72.16(n)    BM532575.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG56023
    DNA-ligI1
    DNA ligase (ATP)3
    DNA ligase I1
    47(a)
    (best of 3)3
    56.66(n)1
    51.52(a)1
      60A83
    377911  NM_137999.21  NP_611843.21 
    worm
    (Caenorhabditis elegans)
    Secernentea T21D12.9c3
    lig-11
    Protein LIG-11 32(a)
    (best of 3)3
    52.86(n)1
    50.72(a)1
      IV(274626-278272)3
    1795021  NM_171537.21  NP_741625.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CDC9(YDL164C)4
    CDC91
    DNA ligase found in the nucleus and mitochondria, an more4
    Cdc9p1
    47.48(n)1
    43.88(a)1
      4(167254-164987)4
    8513911, 4  NP_010117.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons LIG11 DNA ligase 1 53.51(n)
    50.87(a)
      837333  NM_100689.4  NP_172293.2 
    rice
    (Oryza sativa)
    Liliopsida Os.82852 Oryza sativa (japonica cultivar-group) putative DNA more 70.14(n)    AK120278.1 


    ENSEMBL Gene Tree for LIG1 (if available)
    TreeFam Gene Tree for LIG1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1612 SNPs in LIG1 are shown (see all 1612)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0365124
    A colorectal cancer sample4--see VAR_0365122 S L mis40--------
    VAR_0365114
    A colorectal cancer sample4--see VAR_0365112 K E mis40--------
    VAR_0022634
    ----see VAR_0022632 R W mis40--------
    VAR_0022624
    ----see VAR_0022622 E K mis40--------
    rs1904588611,2
    --44999996(+) CTTAGG/TGGGGC 1 -- ds50010--------
    rs1834080651,2
    --45000093(+) TTAGCC/GAGGCG 1 -- ds50010--------
    rs37310511,2
    C,F--45000094(-) acgccT/Cggcta 1 -- ds50011Minor allele frequency- C:0.02NS 108
    rs37310501,2
    C,F--45000100(-) gacacC/Tacgcc 1 -- ds50011Minor allele frequency- T:0.02NS 106
    rs1399988861,2
    --45000103(+) GTGGTA/GTCACA 1 -- ds50010--------
    rs1863290241,2
    --45000224(+) AGAGCA/GAGACT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for LIG1 (48618702 - 48673860 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for LIG1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv833853CNV Loss17160897
    nsv912217CNV Loss21882294
    esv34181CNV Loss18971310
    nsv9739CNV Gain+Loss18304495


    Human Gene Mutation Database (HGMD): LIG1

    Locus Specific Mutation Databases (LSDB): LIG1
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for LIG1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 126391    OMIM disorders: --

    20/30 diseases for LIG1 (see all 30):    About MalaCards
    bloom syndrome    dna ligase iv deficiency    nijmegen breakage syndrome    triple-a syndrome
    acoustic neuroma    neuroma    ataxia telangiectasia    autosomal recessive disease
    xeroderma pigmentosum    stomach cancer    paralysis    synovitis
    vaccinia    tuberculosis    ataxia    chronic myeloid leukemia
    graft versus host disease    esophageal adenocarcinoma    pancreatic cancer    acute leukemia

    2 diseases from the University of Copenhagen DISEASES database for LIG1:
    Vaccinia     Autosomal recessive disease

    LIG1 for disorders           About GeneDecksing

    10/14 Novoseek inferred disease relationships for LIG1 gene (see all 14)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bloom syndrome 82.1 7 1900268 (2), 7683758 (1), 1881902 (1), 7480643 (1) (see all 6)
    nijmegen breakage syndrome 46.3 1 15966765 (1)
    ataxia telangiectasia 45 1 15966765 (1)
    xeroderma pigmentosum 21.9 1 15966765 (1)
    pancreatic carcinoma 10.8 2 12408985 (1)
    tumors 4.58 18 11751514 (6), 11948132 (2), 16940149 (1), 8144677 (1)
    pancreatic cancer 3.95 1 12372342 (1)
    immunodeficiency 2.47 2 1351188 (1), 8907308 (1)
    growth retardation 1.04 1 1351188 (1)
    shock 0 1 10970827 (1)

    Genatlas disease: LIG1
    growth retardation,immunodeficiency and predisposition to malignancies,Bloom syndrome-like phenotype

    Genetic Association Database (GAD): LIG1
    Human Genome Epidemiology (HuGE) Navigator: LIG1 (37 documents)

    Export disorders for LIG1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for LIG1 gene, integrated from 9 sources (see all 225):
    (articles sorted by number of sources associating them with LIG1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Polymorphism of DNA ligase I and risk of lung cancer--a case-control analysis. (PubMed id 12009232)1, 4, 9 Shen H....Wei Q. (2002)
    2. A wild-type DNA ligase I gene is expressed in Bloom's syndrome cells. (PubMed id 1881902)1, 2, 9 Petrini J.H.J.... Weaver D.T. (1991)
    3. Human DNA ligase I completely encircles and partially unwinds nicked DNA. (PubMed id 15565146)1, 2, 9 Pascal J.M.... Ellenberger T. (2004)
    4. Human DNA ligase I cDNA: cloning and functional expression in Saccharomyces cerevisiae. (PubMed id 2204063)1, 2, 9 Barnes D.E....Lindahl T. (1990)
    5. No association of DNA ligase-I polymorphism with the risk of lung cancer in north-Indian population. (PubMed id 16907646)1, 4, 9 Sobti R.C....Raimondi S. (2006)
    6. Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents. (PubMed id 1581963)1, 2, 9 Barnes D.E.... Lindahl T. (1992)
    7. Polymorphisms in DNA repair genes and risk of non-Hod gkin lymphoma in a pooled analysis of three studies. (PubMed id 20813000)1, 4 Shen M....Zheng T. (2010)
    8. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (2010)
    9. DNA repair gene polymorphisms and risk of adult menin gioma, glioma, and acoustic neuroma. (PubMed id 20150366)1, 4 Rajaraman P....Inskip P.D. (2010)
    10. XPC genetic polymorphisms correlate with the response to imatinib treatment in patients with chronic phase chronic myeloid leukemia. (PubMed id 20575039)1, 4 Guillem V.M....HernA!ndez-Boluda J.C. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3978 HGNC: 6598 AceView: LIG1 Ensembl:ENSG00000105486 euGenes: HUgn3978
    ECgene: LIG1 Kegg: 3978 H-InvDB: LIG1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for LIG1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for LIG1 Genetics and Cytogenetics in Oncology and Haematology
    LIG1basehttp://bioinf.uta.fi/LIG1base/
    NIEHS-SNPshttp://egp.gs.washington.edu/data/lig1/
    Wikipedia http://en.wikipedia.org/wiki/DNA_ligase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for LIG1 gene:
    Search GeneIP for patents involving LIG1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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