LIG4: a DNA ligase that joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. 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. Defects in this gene are the cause of LIG4 syndrome.
Protein type: EC 6.5.1.1; Ligase
Chromosomal Location of Human Ortholog: 13q33-q34
Cellular Component: condensed chromosome; cytoplasm; DNA ligase IV complex; DNA-dependent protein kinase complex; focal adhesion; nuclear chromosome, telomeric region; nucleoplasm; nucleus; plasma membrane
Molecular Function: DNA binding; DNA ligase (ATP) activity; DNA ligase activity; ligase activity; protein binding; protein C-terminus binding
Biological Process: cell proliferation; central nervous system development; chromosome organization and biogenesis; DNA ligation; DNA ligation during DNA recombination; DNA ligation during DNA repair; double-strand break repair; double-strand break repair via nonhomologous end joining; immunoglobulin V(D)J recombination; in utero embryonic development; isotype switching; lagging strand elongation; negative regulation of neuron apoptosis; neuron apoptosis; nucleotide-excision repair, DNA gap filling; positive regulation of fibroblast proliferation; positive regulation of neurogenesis; pro-B cell differentiation; response to gamma radiation; response to X-ray; single strand break repair; somatic stem cell maintenance; T cell differentiation in the thymus; T cell receptor V(D)J recombination; V(D)J recombination
Disease: Lig4 Syndrome; Myeloma, Multiple
Show more