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Nonhomologous End Joining Factor 1 (NHEJ1)

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XLF; Cernunnos; XRCC4-like factor

Nonhomologous End Joining Factor 1 (NHEJ1)
CCC H545
HGNC 25737
MGI 1922820
PubMed 20597108
RGD 1359338
UniProt Q9H9Q4
Wiki NHEJ1
Double-strand breaks (DSBs) result from genotoxic stresses and are among the most toxic DNA lesions. NHEJ1 is a DNA repair factor essential for the nonhomologous end-joining (NHEJ) pathway, which preferentially mediates repair of DSBs. Failure to repair DSBs results in genetic instability, developmental delay, and immunodeficiency.The predicted 299-amino acid Cernunnos protein shares 74% identity with its mouse homolog. RT-PCR analysis detected ubiquitous expression. Immunofluorescence microscopy showed a predominantly nuclear localization in transfected fibroblasts.Downregulation of either XRCC4 or XLF resulted in defective DNA DSB repair, and downregulation of XLF led to prolonged phosphorylation of H2AX (H2AFX) following irradiation.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPH545Hu01 Recombinant Nonhomologous End Joining Factor 1 (NHEJ1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies n/a Monoclonal Antibody to Nonhomologous End Joining Factor 1 (NHEJ1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Nonhomologous End Joining Factor 1 (NHEJ1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Nonhomologous End Joining Factor 1 (NHEJ1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Nonhomologous End Joining Factor 1 (NHEJ1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Nonhomologous End Joining Factor 1 (NHEJ1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Nonhomologous End Joining Factor 1 (NHEJ1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Nonhomologous End Joining Factor 1 (NHEJ1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Nonhomologous End Joining Factor 1 (NHEJ1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Nonhomologous End Joining Factor 1 (NHEJ1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Nonhomologous End Joining Factor 1 (NHEJ1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Nonhomologous End Joining Factor 1 (NHEJ1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Nonhomologous End Joining Factor 1 (NHEJ1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Nonhomologous End Joining Factor 1 (NHEJ1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Nonhomologous End Joining Factor 1 (NHEJ1) ELISA Kit Customized Service Offer
  1. "Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly."Cell 124:287-299(2006) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "Nonhomologous end joining and V(D)J recombination require an additional factor."Proc. Natl. Acad. Sci. U.S.A. 100:2462-2467(2003) [PubMed] [Europe PMC] [Abstract]
  6. "XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining."Cell 124:301-313(2006) [PubMed] [Europe PMC] [Abstract]
  7. "Cernunnos interacts with the XRCC4 x DNA-ligase IV complex and is homologous to the yeast nonhomologous end-joining factor Nej1."J. Biol. Chem. 281:13857-13860(2006) [PubMed] [Europe PMC] [Abstract]
  8. "Truncation of NHEJ1 in a patient with polymicrogyria."Hum. Mutat. 28:356-364(2007) [PubMed] [Europe PMC] [Abstract]
  9. "Length-dependent binding of human XLF to DNA and stimulation of XRCC4.DNA ligase IV activity."J. Biol. Chem. 282:11155-11162(2007) [PubMed] [Europe PMC] [Abstract]
  10. "Cernunnos/XLF promotes the ligation of mismatched and noncohesive DNA ends."Proc. Natl. Acad. Sci. U.S.A. 104:7851-7856(2007) [PubMed] [Europe PMC] [Abstract]
  11. "Crystal structure of human XLF/Cernunnos reveals unexpected differences from XRCC4 with implications for NHEJ."EMBO J. 27:290-300(2008) [PubMed] [Europe PMC] [Abstract]