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Description for Protein LIG4

ligase IV, DNA, ATP-dependent
8 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The protein encoded by this gene is a DNA ligase that joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. This protein is 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. The crystal structure of the complex formed by this protein and XRCC4 has been resolved. Defects in this gene are the cause of LIG4 syndrome. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • BRCT: breast cancer carboxy-terminal domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    6.5.1.1
    KEGG - Orthology:
    K10777
    KEGG - Pathway(s):
    hsa03450
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Polydeoxyribonucleotide synthase; DNA ligase 4; DNA ligase IV; Sealase; DNA joinase; DNA repair enzyme; Polynucleotide ligase; EC 6.5.1.1
    Approved Symbol:
    LIG4
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 3
    Human (de-) phosphorylation sites: 3; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • LIG4 syndrome(Pd);
  • Multiple myeloma, resistance to(Pd);
  • Severe combined immunodeficiency with sensitivity to ionizing radiation(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 03500 Entrez Gene ID: 3981 OMIM ID: 601837 Swissprot Accession: P49917;