XLF (protein)

Nonhomologous end-joining factor 1
Rendering based on PDB 2QM4.
Available structures PDB 2QM4, 2R9A
Identifiers
Symbols	NHEJ1; FLJ12610; XLF
External IDs	OMIM: 611290 MGI: 1922820 HomoloGene: 11714 GeneCards: NHEJ1 Gene
Gene Ontology Molecular function • DNA binding • protein binding • identical protein binding Cellular component • nucleus • nonhomologous end joining complex Biological process • double-strand break repair via nonhomologous end joining • DNA recombination • central nervous system development • response to ionizing radiation • B cell differentiation • T cell differentiation • positive regulation of ligase activity Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	79840	75570
Ensembl	ENSG00000187736	ENSMUSG00000026162
UniProt	Q9H9Q4	Q3KNJ2
RefSeq (mRNA)	NM_024782	NM_029342.4
RefSeq (protein)	NP_079058	NP_083618.3
Location (UCSC)	Chr 2: 219.94 – 220.03 Mb	Chr 1: 75.01 – 75.09 Mb
PubMed search	[1]	[2]

XLF (XRCC4-like factor), also known as Cernunnos, is a protein encoded by the human NHEJ1 gene.^[1] XLF was originally discovered as the protein mutated in five patients with growth retardation, microcephaly, and immunodeficiency.^[2] The protein is required for the non-homologous end joining (NHEJ) pathway of DNA repair. Patients with XLF mutations also have immunodeficiency due to a defect in V(D)J recombination, which utilizes NHEJ to promote immune system diversity. XLF interacts with DNA ligase IV and XRCC4 and is thought to be involved in the ligation step of NHEJ. The yeast (Saccharomyces cerevisiae) homolog of XLF is Nej1.^[3]

Interactions

XLF has been shown to interact with XRCC4.^[4]

References

1. ^ "Entrez Gene: NHEJ1 nonhomologous end-joining factor 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=79840. 
2. ^ Buck D, Malivert L, de Chasseval R, et al. (January 2006). "Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly". Cell 124 (2): 287–99. doi:10.1016/j.cell.2005.12.030. PMID 16439204. 
3. ^ Callebaut I, Malivert L, Fischer A, Mornon JP, Revy P, de Villartay JP (May 2006). "Cernunnos interacts with the XRCC4 x DNA-ligase IV complex and is homologous to the yeast nonhomologous end-joining factor Nej1". J. Biol. Chem. 281 (20): 13857–60. doi:10.1074/jbc.C500473200. PMID 16571728. 
4. ^ Deshpande, Rajashree A; Wilson Thomas E (Oct. 2007). "Modes of interaction among yeast Nej1, Lif1 and Dnl4 proteins and comparison to human XLF, XRCC4 and Lig4". DNA Repair (Amst.) (Netherlands) 6 (10): 1507–16. doi:10.1016/j.dnarep.2007.04.014. ISSN 1568-7864. PMC 2064958. PMID 17567543. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2064958. 

Further reading

• Pastwa E, Malinowski M (2007). "Non-homologous DNA end joining in anticancer therapy.". Current cancer drug targets 7 (3): 243–50. doi:10.2174/156800907780618284. PMID 17504121. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• Dai Y, Kysela B, Hanakahi LA, et al. (2003). "Nonhomologous end joining and V(D)J recombination require an additional factor.". Proc. Natl. Acad. Sci. U.S.A. 100 (5): 2462–7. doi:10.1073/pnas.0437964100. PMID 12604777. 
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039. 
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928. 
• Hillier LW, Graves TA, Fulton RS, et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4.". Nature 434 (7034): 724–31. doi:10.1038/nature03466. PMID 15815621. 
• Buck D, Malivert L, de Chasseval R, et al. (2006). "Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly.". Cell 124 (2): 287–99. doi:10.1016/j.cell.2005.12.030. PMID 16439204. 
• Ahnesorg P, Smith P, Jackson SP (2006). "XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining.". Cell 124 (2): 301–13. doi:10.1016/j.cell.2005.12.031. PMID 16439205. 
• Callebaut I, Malivert L, Fischer A, et al. (2006). "Cernunnos interacts with the XRCC4 x DNA-ligase IV complex and is homologous to the yeast nonhomologous end-joining factor Nej1.". J. Biol. Chem. 281 (20): 13857–60. doi:10.1074/jbc.C500473200. PMID 16571728. 
• Revy P, de Villartay JP (2006). "[Cernunnos, a novel DNA repair factor essential for the immune system]". Med Sci (Paris) 22 (6-7): 569–70. PMID 16828027. 
• Cantagrel V, Lossi AM, Lisgo S, et al. (2007). "Truncation of NHEJ1 in a patient with polymicrogyria.". Hum. Mutat. 28 (4): 356–64. doi:10.1002/humu.20450. PMID 17191205. 
• Lu H, Pannicke U, Schwarz K, Lieber MR (2007). "Length-dependent binding of human XLF to DNA and stimulation of XRCC4.DNA ligase IV activity.". J. Biol. Chem. 282 (15): 11155–62. doi:10.1074/jbc.M609904200. PMID 17317666. 
• Tsai CJ, Kim SA, Chu G (2007). "Cernunnos/XLF promotes the ligation of mismatched and noncohesive DNA ends.". Proc. Natl. Acad. Sci. U.S.A. 104 (19): 7851–6. doi:10.1073/pnas.0702620104. PMID 17470781. 
• Deshpande RA, Wilson TE (2007). "Modes of interaction among yeast Nej1, Lif1 and Dnl4 proteins and comparison to human XLF, XRCC4 and Lig4.". DNA Repair (Amst.) 6 (10): 1507–16. doi:10.1016/j.dnarep.2007.04.014. PMC 2064958. PMID 17567543. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2064958. 
• Wu PY, Frit P, Malivert L, et al. (2007). "Interplay between Cernunnos-XLF and nonhomologous end-joining proteins at DNA ends in the cell.". J. Biol. Chem. 282 (44): 31937–43. doi:10.1074/jbc.M704554200. PMID 17720816. 

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