LIG4

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Ligaza IV, DNK, ATP-zavisna
PDB prikaz baziran na 1ik9.
Dostupne strukture
1IK9, 2E2W, 3II6
Identifikatori
Simbol	LIG4
Vanjski ID	OMIM: 601837 MGI: 1335098 HomoloGene: 1736 GeneCards: LIG4 Gene
EC broj	6.5.1.1
Ontologija gena Molekularna funkcija • vezivanje nukleotida • DNK vezivanje • aktivnost DNK ligaze • aktivnost DNK ligaze (ATP) • proteinsko vezivanje • ATP vezivanje • vezivanje protein C-terminusa • aktivnost ligaze • vezivanje metalnog jona Celularna komponenta • kondenzovani hromozom • intracelularni • jedro • nukleoplazma • nukleolus • citoplazma • ćelijska membrana • fokalna adhezija • DNK zavisna proteinska kinaza - DNK ligaza 4 kompleks • kompleks DNK ligaze IV • kompleks nehomolognog spajanja krajeva Biološki proces • popravka jednolančanih prekida • in utero embrionski razvoj • pro-B ćelijska diferencijacija • replikacija DNK • ligacija DNK • popravka DNK • popravka dvolančanih prekida
Pregled RNK izražavanja
podaci
Ortolozi
Vrsta	Čovek	Miš
Entrez	3981	319583
Ensembl	ENSG00000174405	ENSMUSG00000049717
UniProt	P49917	Q8BTF5
RefSeq (mRNA)	NM_001098268.1	NM_176953.3
RefSeq (protein)	NP_001091738.1	NP_795927.2
Lokacija (UCSC)	Chr 13: 108.86 - 108.87 Mb	Chr 8: 9.97 - 9.98 Mb
PubMed pretraga	[1]	[2]

LIG4 je gen koji kodira proteinsku DNK ligazu IV. Ovaj protein je ATP zavisna DNK ligaza koja spaja dvolančane prekide tokom nehomolognog spajanja krajeva u putu popravke prekida dvostrukog lanca. On je takođe esencijalan za V(D)J rekombinaciju.

Defekti ovog gena uzrokuju LIG4 sindrom. Lig4 homolog u kvascu je Dnl4.

Interakcije

Lig4 formira kompleks sa XRCC4, i dalje interaguje sa DNK zavisnom proteinskom kinazom (DNA-PK) i XLF/Cernunnos.

Literatura

• Wei YF, Robins P, Carter K, et al. (1995). „Molecular cloning and expression of human cDNAs encoding a novel DNA ligase IV and DNA ligase III, an enzyme active in DNA repair and recombination”. Mol. Cell. Biol. 15 (6): 3206–16. PMC 230553. PMID 7760816. 
• Robins P, Lindahl T (1996). „DNA ligase IV from HeLa cell nuclei”. J. Biol. Chem. 271 (39): 24257–61. DOI:10.1074/jbc.271.39.24257. PMID 8798671. 
• Grawunder U, Wilm M, Wu X, et al. (1997). „Activity of DNA ligase IV stimulated by complex formation with XRCC4 protein in mammalian cells”. Nature 388 (6641): 492–5. DOI:10.1038/41358. PMID 9242410. 
• Critchlow SE, Bowater RP, Jackson SP (1997). „Mammalian DNA double-strand break repair protein XRCC4 interacts with DNA ligase IV”. Curr. Biol. 7 (8): 588–98. DOI:10.1016/S0960-9822(06)00258-2. PMID 9259561. 
• Grawunder U, Zimmer D, Leiber MR (1998). „DNA ligase IV binds to XRCC4 via a motif located between rather than within its BRCT domains”. Curr. Biol. 8 (15): 873–6. DOI:10.1016/S0960-9822(07)00349-1. PMID 9705934. 
• Grawunder U, Zimmer D, Fugmann S, et al. (1998). „DNA ligase IV is essential for V(D)J recombination and DNA double-strand break repair in human precursor lymphocytes”. Mol. Cell 2 (4): 477–84. DOI:10.1016/S1097-2765(00)80147-1. PMID 9809069. 
• Riballo E, Critchlow SE, Teo SH, et al. (1999). „Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient”. Curr. Biol. 9 (13): 699–702. DOI:10.1016/S0960-9822(99)80311-X. PMID 10395545. 
• Kim ST, Lim DS, Canman CE, Kastan MB (2000). „Substrate specificities and identification of putative substrates of ATM kinase family members”. J. Biol. Chem. 274 (53): 37538–43. DOI:10.1074/jbc.274.53.37538. PMID 10608806. 
• Nick McElhinny SA, Snowden CM, McCarville J, Ramsden DA (2000). „Ku Recruits the XRCC4-Ligase IV Complex to DNA Ends”. Mol. Cell. Biol. 20 (9): 2996–3003. DOI:10.1128/MCB.20.9.2996-3003.2000. PMC 85565. PMID 10757784. 
• Chen L, Trujillo K, Sung P, Tomkinson AE (2000). „Interactions of the DNA ligase IV-XRCC4 complex with DNA ends and the DNA-dependent protein kinase”. J. Biol. Chem. 275 (34): 26196–205. DOI:10.1074/jbc.M000491200. PMID 10854421. 
• Lee KJ, Huang J, Takeda Y, Dynan WS (2000). „DNA ligase IV and XRCC4 form a stable mixed tetramer that functions synergistically with other repair factors in a cell-free end-joining system”. J. Biol. Chem. 275 (44): 34787–96. DOI:10.1074/jbc.M004011200. PMID 10945980. 
• Riballo E, Doherty AJ, Dai Y, et al. (2001). „Cellular and biochemical impact of a mutation in DNA ligase IV conferring clinical radiosensitivity”. J. Biol. Chem. 276 (33): 31124–32. DOI:10.1074/jbc.M103866200. PMID 11349135. 
• Sibanda BL, Critchlow SE, Begun J, et al. (2002). „Crystal structure of an Xrcc4-DNA ligase IV complex”. Nat. Struct. Biol. 8 (12): 1015–9. DOI:10.1038/nsb725. PMID 11702069. 
• O'Driscoll M, Cerosaletti KM, Girard PM, et al. (2002). „DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency”. Mol. Cell 8 (6): 1175–85. DOI:10.1016/S1097-2765(01)00408-7. PMID 11779494. 
• Kuschel B, Auranen A, McBride S, et al. (2002). „Variants in DNA double-strand break repair genes and breast cancer susceptibility”. Hum. Mol. Genet. 11 (12): 1399–407. DOI:10.1093/hmg/11.12.1399. PMID 12023982. 
• Mahajan KN, Nick McElhinny SA, Mitchell BS, Ramsden DA (2002). „Association of DNA Polymerase μ (pol μ) with Ku and Ligase IV: Role for pol μ in End-Joining Double-Strand Break Repair”. Mol. Cell. Biol. 22 (14): 5194–202. DOI:10.1128/MCB.22.14.5194-5202.2002. PMC 139779. PMID 12077346. 
• Roth DB (2002). „Amplifying mechanisms of lymphomagenesis”. Mol. Cell 10 (1): 1–2. DOI:10.1016/S1097-2765(02)00573-7. PMID 12150897. 
• Smogorzewska A, Karlseder J, Holtgreve-Grez H, et al. (2003). „DNA ligase IV-dependent NHEJ of deprotected mammalian telomeres in G1 and G2”. Curr. Biol. 12 (19): 1635–44. DOI:10.1016/S0960-9822(02)01179-X. PMID 12361565. 
• Roddam PL, Rollinson S, O'Driscoll M, et al. (2003). „Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumour characterised by aberrant class switch recombination”. J. Med. Genet. 39 (12): 900–5. DOI:10.1136/jmg.39.12.900. PMC 1757220. PMID 12471202. 
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). „Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences”. Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. DOI:10.1073/pnas.242603899. PMC 139241. PMID 12477932. 

Vidi još

• DNK ligaza