REPAIRtoire - a database of DNA repair pathways

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LIG1

ligase I, DNA, ATP-dependent

On chromosome: 19q13.2-q13.3
Known also as: MGC117397; MGC130025;


NCBI Gene ID: 3978
NCBI Ensembl Id: ENSG00000105486
MIM Id: (from NCBI OMIM database) 126391
Species: Homo sapiens

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]


Gene sequence:
[Download sequence]

Proteins coded by this gene:
References:

Authors Title Journal
Barnes DE, Johnston LH, Kodama K, Tomkinson AE, Lasko DD, Lindahl T Human DNA ligase I cDNA: cloning and functional expression in Saccharomyces cerevisiae. Proc Natl Acad Sci U S A Sept. 1, 1990
Bentley D, Selfridge J, Millar JK, Samuel K, Hole N, Ansell JD, Melton DW DNA ligase I is required for fetal liver erythropoiesis but is not essential for mammalian cell viability. Nat Genet Aug. 1, 1996
Bambara RA, Murante RS, Henricksen LA Enzymes and reactions at the eukaryotic DNA replication fork. J Biol Chem Jan. 21, 1997
Grawunder U, Zimmer D, Fugmann S, Schwarz K, Lieber MR DNA ligase IV is essential for V(D)J recombination and DNA double-strand break repair in human precursor lymphocytes. Mol Cell Oct. 1, 1998

Last modification of this entry: Oct. 6, 2010.

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