LIG1
From Wikipedia, the free encyclopedia
Ligase I, DNA, ATP-dependent
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PDB rendering based on 1x9n. | ||||||||||||||
Available structures: 1x9n | ||||||||||||||
Identifiers | ||||||||||||||
Symbol(s) | LIG1; MGC117397; MGC130025 | |||||||||||||
External IDs | OMIM: 126391 MGI: 101789 HomoloGene: 197 | |||||||||||||
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RNA expression pattern | ||||||||||||||
Orthologs | ||||||||||||||
Human | Mouse | |||||||||||||
Entrez | 3978 | 16881 | ||||||||||||
Ensembl | ENSG00000105486 | ENSMUSG00000056394 | ||||||||||||
Uniprot | P18858 | Q3TSU8 | ||||||||||||
Refseq | NM_000234 (mRNA) NP_000225 (protein) |
NM_010715 (mRNA) NP_034845 (protein) |
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Location | Chr 19: 53.31 - 53.37 Mb | Chr 7: 12.18 - 12.21 Mb | ||||||||||||
Pubmed search | [1] | [2] |
Ligase I, DNA, ATP-dependent, also known as LIG1, is a human gene.
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.[1]
[edit] References
[edit] Further reading
- Leonhardt H, Cardoso MC (1996). "Targeting and association of proteins with functional domains in the nucleus: the insoluble solution.". Int. Rev. Cytol. 162B: 303–35. PMID 8557490.
- Tomkinson AE, Mackey ZB (1998). "Structure and function of mammalian DNA ligases.". Mutat. Res. 407 (1): 1–9. PMID 9539976.
- Perrigot M, Pierrot-Deseilligny E, Bussel B, Held JP (1976). "[Paralysis following Dimer X radiculography]". La Nouvelle presse médicale 5 (17): 1120–2. PMID 934827.
- Webster AD, Barnes DE, Arlett CF, et al. (1992). "Growth retardation and immunodeficiency in a patient with mutations in the DNA ligase I gene.". Lancet 339 (8808): 1508–9. PMID 1351188.
- Barnes DE, Tomkinson AE, Lehmann AR, et al. (1992). "Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents.". Cell 69 (3): 495–503. PMID 1581963.
- Barnes DE, Kodama K, Tynan K, et al. (1992). "Assignment of the gene encoding DNA ligase I to human chromosome 19q13.2-13.3.". Genomics 12 (1): 164–6. PMID 1733856.
- Petrini JH, Huwiler KG, Weaver DT (1991). "A wild-type DNA ligase I gene is expressed in Bloom's syndrome cells.". Proc. Natl. Acad. Sci. U.S.A. 88 (17): 7615–9. PMID 1881902.
- Lasko DD, Tomkinson AE, Lindahl T (1990). "Mammalian DNA ligases. Biosynthesis and intracellular localization of DNA ligase I.". J. Biol. Chem. 265 (21): 12618–22. PMID 2197279.
- Barnes DE, Johnston LH, Kodama K, et al. (1990). "Human DNA ligase I cDNA: cloning and functional expression in Saccharomyces cerevisiae.". Proc. Natl. Acad. Sci. U.S.A. 87 (17): 6679–83. PMID 2204063.
- Montecucco A, Savini E, Weighardt F, et al. (1996). "The N-terminal domain of human DNA ligase I contains the nuclear localization signal and directs the enzyme to sites of DNA replication.". EMBO J. 14 (21): 5379–86. PMID 7489727.
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171–4. PMID 8125298.
- Trask B, Fertitta A, Christensen M, et al. (1993). "Fluorescence in situ hybridization mapping of human chromosome 19: cytogenetic band location of 540 cosmids and 70 genes or DNA markers.". Genomics 15 (1): 133–45. PMID 8432525.
- Petrini JH, Walsh ME, DiMare C, et al. (1996). "Isolation and characterization of the human MRE11 homologue.". Genomics 29 (1): 80–6. doi: . PMID 8530104.
- Bentley D, Selfridge J, Millar JK, et al. (1996). "DNA ligase I is required for fetal liver erythropoiesis but is not essential for mammalian cell viability.". Nat. Genet. 13 (4): 489–91. doi: . PMID 8696349.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149–56. PMID 9373149.
- Rossi R, Villa A, Negri C, et al. (1999). "The replication factory targeting sequence/PCNA-binding site is required in G(1) to control the phosphorylation status of DNA ligase I.". EMBO J. 18 (20): 5745–54. doi: . PMID 10523317.
- Matsumoto Y, Kim K, Hurwitz J, et al. (1999). "Reconstitution of proliferating cell nuclear antigen-dependent repair of apurinic/apyrimidinic sites with purified human proteins.". J. Biol. Chem. 274 (47): 33703–8. PMID 10559261.
- Vispé S, Satoh MS (2000). "DNA repair patch-mediated double strand DNA break formation in human cells.". J. Biol. Chem. 275 (35): 27386–92. doi: . PMID 10827190.