LIG1
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DNK ligaza 1 je enzim koji je kod ljudi kodiran LIG1 genom. On učestvuje u replikaciji DNK i procesu popravke. Mutacije LIG1 koje proizvode deficijenciju DNK ligaze I rezultiraju u imunodeficijenciji i povećanoj senzitivnosti na agense koji oštećuju DNK.[1]
| Ligaza I, DNK, ATP zavisna | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
 PDB prikaz baziran na 1x9n. | |||||||||||
| Dostupne strukture | |||||||||||
| 1X9N | |||||||||||
| Identifikatori | |||||||||||
| Simboli | LIG1; MGC117397; MGC130025 | ||||||||||
| Vanjski ID | OMIM: 126391 MGI: 101789 HomoloGene: 197 GeneCards: LIG1 Gene | ||||||||||
| EC broj | 6.5.1.1 | ||||||||||
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| Pregled RNK izražavanja | |||||||||||
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| podaci | |||||||||||
| Ortolozi | |||||||||||
| Vrsta | Čovek | Miš | |||||||||
| Entrez | 3978 | 16881 | |||||||||
| Ensembl | ENSG00000105486 | ENSMUSG00000056394 | |||||||||
| UniProt | P18858 | P37913 | |||||||||
| RefSeq (mRNA) | NM_000234.1 | NM_001083188.1 | |||||||||
| RefSeq (protein) | NP_000225.1 | NP_001076657.1 | |||||||||
| Lokacija (UCSC) | Chr 19: 48.62 - 48.67 Mb | Chr 7: 13.86 - 13.9 Mb | |||||||||
| PubMed pretraga | [1] | [2] | |||||||||
Reference uredi
Literatura uredi
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- 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. DOI:10.1016/0140-6736(92)91266-B. 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. DOI:10.1016/0092-8674(92)90450-Q. 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. DOI:10.1016/0888-7543(92)90422-O. 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. DOI:10.1073/pnas.88.17.7615. PMC 52352. 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. DOI:10.1073/pnas.87.17.6679. PMC 54600. 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. PMC 394647. 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. DOI:10.1016/0378-1119(94)90802-8. 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. DOI:10.1006/geno.1993.1021. 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:10.1006/geno.1995.1217. 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:10.1038/ng0896-489. 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. DOI:10.1016/S0378-1119(97)00411-3. 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:10.1093/emboj/18.20.5745. PMC 1171641. 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. DOI:10.1074/jbc.274.47.33703. 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:10.1074/jbc.M003126200. PMID 10827190.