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FLASH GENE
Symbol LIG1 contributors: mct - updated : 10-04-2018
HGNC name ligase I, DNA, ATP-dependent
HGNC id 6598
Corresponding disease
LIG1 growth retardation, immunodeficiency
Location 19q13.33      Physical location : 48.618.702 - 48.673.560
EC.number 6.5.1.1
DNA
TYPE functioning gene
STRUCTURE 55.16 kb     28 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map cen - XRCC1 - ERCC2 - ERCC1 - DM1 - D19S321 - SULT2A1 - LIG1 LIG1 - D19S301 - GYS1 /LHB LHB - KCNA7 - qter
Authors Barnes (92),Gordon (95)
Physical map
GLTSCR1 19q13.3 glioma tumor suppressor candidate region gene 1 EHD2 19p13.3 EH-domain containing 2 GLTSCR2 19q13.3 glioma tumor suppressor candidate region gene 2 SEPW1 19q13.3 selenoprotein W, 1 LOC390949 19 similar to 60S ribosomal protein L23a FLJ40321 19q13.33 FLJ40321 protein CRX 19q13.3 cone-rod homeobox SULT2A1 19q13.3 sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA) -preferring, member 1 ELSPBP1 19q13.33 epididymal sperm binding protein 1 CABP5 19q13.3 calcium binding protein 5 PLA2G4C 19q13.3 phospholipase A2, group IVC (cytosolic, calcium-independent) LIG1 19q13.3 ligase I, DNA, ATP-dependent LOC374920 19q13.33 hypothetical protein LOC374920 CARD8 19q13.33 caspase recruitment domain family, member 8 MGC17986 19q13.33 hypothetical protein MGC17986 FLJ32926 19q13.33 hypothetical protein FLJ32926 EMP3 19q13.3 epithelial membrane protein 3 FLJ10922 19q13.33 hypothetical protein FLJ10922 SYNGR4 19q13.3 synaptogyrin 4 KDELR1 19q13.2-q13.3 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 GRIN2D 19q13.1-qter glutamate receptor, ionotropic, N-methyl D-aspartate 2D GRWD1 19q13.33 glutamate-rich WD repeat containing 1 KCNJ14 19q13 potassium inwardly-rectifying channel, subfamily J, member 14 PSCD2 19q13.3 pleckstrin homology, Sec7 and coiled-coil domains 2 (cytohesin-2) KIAA1883 SULT2B1 19q13.3 sulfotransferase family, cytosolic, 2B, member 1 FLJ20200 19q13.33 hypothetical protein FLJ20200 SPACA4 19q13.3-14 sperm acrosome associated 4 RPL18 19q13.3 ribosomal protein L18 SPHK2 19q13.2 sphingosine kinase 2 DBP 19q13.3 D site of albumin promoter (albumin D-box) binding protein CA11 19q13.3 carbonic anhydrase XI
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
28 - 3083 - 919 - 2017 28803780
27 - 3317 - 888 - 2017 28803780
27 - 3320 - 889 - 2017 28803780
26 - 3206 - 851 - 2017 28803780
28 - 3407 - 918 - 2017 28803780
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinesmall intestine  highly
Lymphoid/Immunethymus   highly
Respiratoryrespiratory tractlarynx  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal PIP box
  • three cyclin-dependent kinase sites, serine 51, serine 76, and serine 91, and a casein kinase II site, serine 66, these phosphorylation sites reside within an unstructured, proline-rich region between the PIP box and the catalytic domain
  • C-terminal catalytic domain
  • HOMOLOGY
    interspecies homolog to yeast cdc9
    Homologene
    FAMILY
    CATEGORY enzyme , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • DNA ligase I,ATP-dependent
  • required for fetal liver erythropoiesis
  • carrying out the final step of Okazaki fragments processing and of many DNA repair pathways
  • participates in DNA replication and excision repair via an interaction with proliferating cell nuclear antigen (PCNA), a DNA sliding clamp
  • participates in homology dependent pathways that deal with replication-associated lesions generated when replication fork encounters DNA damage
  • catalyzes the ligation of single-strand breaks to complete DNA replication and repair
  • catalyzes Okazaki-fragment ligation at the replication fork and nucleotide excision repair (NER)
  • its interaction with RFC1 plays a key role in coordinating Okazaki fragment processing and ligation during DNA replication and contributes to the DNA repair functions of LIG1
  • LIG1 and LIG3 cooperate in alternative non-homologous end-joining
  • LIG1 is not absolutely required for cellular DNA replication and repair and either LIG3 or LIG4 can substitute for the role of LIG1 in joining Okazaki fragments
  • LIG3 isoforms were seven times more efficient than LIG1 at ligating nicked DNA under optimal conditions
  • CELLULAR PROCESS nucleotide, replication
    nucleotide, repair
    nucleotide, transcription, regulation
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS development
    text embryogenesis, morphogenesis
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding, nucleotide,
  • ATP dependent
  • requires multiple Mg(2+) ions for catalysis and that an essential Mg(2+) ion binds more tightly to ATP than to the enzyme
  • protein
  • interacting with FEN1 to inhibit DNA synthesis by DNA polymerase delta/PCNA complex
  • LIG1 was critical for DNA repair, but acted in a cooperative manner with LIG3
  • is the main DNA ligase for XRCC1-mediated DNA repair 0)
  • interaction between LIG1 and RFC1 is critical for DNA replication and repair, and replacement of serine 51 with aspartic acid is sufficient to disrupt the association of LIG1 with RFC1
  • functional flexibility and interchangeability between LIG1 and LIG3
  • direct recruitment of UHRF1 by the replication machinery via DNA ligase 1 (LIG1)
  • cell & other
    REGULATION
    Other stimulated by AIEX1,coordinately with FEN1
    appropriate phosphorylation of LIG1 is critical for its participation in DNA replication and repair
    phosphorylation of LIG1 regulates its participation in DNA replication and repair
    ASSOCIATED DISORDERS
    corresponding disease(s) LIG1
    Susceptibility to non-small cell lung cancer
    Variant & Polymorphism other
  • LIG1 CC genotype was associated with susceptibility to NSCLC, and the AA genotype demonstrated increased radiosensitivity compared to the AC and CC genotypes
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS