Aliases for LIG3 Gene
External Ids for LIG3 Gene
Previous HGNC Symbols for LIG3 Gene
Previous GeneCards Identifiers for LIG3 Gene
This gene is a member of the DNA ligase family. Each member of this family encodes a protein that catalyzes the joining of DNA ends but they each have a distinct role in DNA metabolism. The protein encoded by this gene is involved in excision repair and is located in both the mitochondria and nucleus, with translation initiation from the upstream start codon allowing for transport to the mitochondria and translation initiation from a downstream start codon allowing for transport to the nucleus. Additionally, alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
GeneCards Summary for LIG3 Gene
LIG3 (DNA Ligase 3) is a Protein Coding gene. Diseases associated with LIG3 include Urofacial Syndrome 2 and Bloom Syndrome. Among its related pathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and Chks in Checkpoint Regulation. GO annotations related to this gene include DNA ligase activity and DNA ligase (ATP) activity. An important paralog of this gene is LIG1.
UniProtKB/Swiss-Prot for LIG3 Gene
Isoform 3 functions as heterodimer with DNA-repair protein XRCC1 in the nucleus and can correct defective DNA strand-break repair and sister chromatid exchange following treatment with ionizing radiation and alkylating agents. Isoform 1 is targeted to mitochondria, where it functions as DNA ligase in mitochondrial base-excision DNA repair (PubMed:10207110, PubMed:24674627).
Ligases are enzymes which 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 of enzymes, which also includes synthases and carboxylases.