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LIG4ligase IV, DNA, ATP-dependent |
| NCBI Gene ID: | 3981 |
| NCBI Ensembl Id: | ENSG00000174405 |
| MIM Id: (from NCBI OMIM database) | 601837 |
| Species: | Homo sapiens |
| 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] |
Gene sequence:
| [Download sequence] |
Proteins coded by this gene:
Diseases related to this gene:
References:
| Authors | Title | Journal |
| Robins P, Lindahl T | DNA ligase IV from HeLa cell nuclei. | J Biol Chem Sept. 27, 1996 |
| Grawunder U, Wilm M, Wu X, Kulesza P, Wilson TE, Mann M, Lieber MR | Activity of DNA ligase IV stimulated by complex formation with XRCC4 protein in mammalian cells. | Nature July 31, 1997 |
| Przewloka MR, Pardington PE, Yannone SM, Chen DJ, Cary RB | In vitro and in vivo interactions of DNA ligase IV with a subunit of the condensin complex. | Mol Biol Cell Jan. 1, 2003 |
| Lee JW, Yannone SM, Chen DJ, Povirk LF | Requirement for XRCC4 and DNA ligase IV in alignment-based gap filling for nonhomologous DNA end joining in vitro. | Cancer Res Feb. 1, 2003 |
Last modification of this entry: Oct. 6, 2010.
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