Nhej1 non-homologous end joining factor 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nhej1provided by MGI
Official Full Name: non-homologous end joining factor 1provided by MGI
Primary source: MGI:MGI:1922820
See related: Ensembl:ENSMUSG00000026162 AllianceGenome:MGI:1922820
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: XLF; cernunnos; 1700029B21Rik
Summary: Predicted to enable DNA end binding activity and DNA polymerase binding activity. Involved in double-strand break repair via nonhomologous end joining. Predicted to be located in fibrillar center and nucleoplasm. Predicted to be part of DNA ligase IV complex and DNA-dependent protein kinase-DNA ligase 4 complex. Predicted to be active in site of double-strand break. Human ortholog(s) of this gene implicated in severe combined immunodeficiency. Orthologous to human NHEJ1 (non-homologous end joining factor 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis adult (RPKM 4.2), large intestine adult (RPKM 2.6) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 C4; 1 38.56 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (75006505..75101870, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (74967346..75125226, complement)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

XLF/Cernunnos loss impairs mouse brain development by altering symmetric proliferative divisions of neural progenitors.
Title: XLF/Cernunnos loss impairs mouse brain development by altering symmetric proliferative divisions of neural progenitors.
Non-Homologous End Joining Factors XLF, PAXX and DNA-PKcs Maintain the Neural Stem and Progenitor Cell Population.
Title: Non-Homologous End Joining Factors XLF, PAXX and DNA-PKcs Maintain the Neural Stem and Progenitor Cell Population.
Leaky severe combined immunodeficiency in mice lacking non-homologous end joining factors XLF and MRI.
Title: Leaky severe combined immunodeficiency in mice lacking non-homologous end joining factors XLF and MRI.
An in vivo study of the impact of deficiency in the DNA repair proteins PAXX and XLF on development and maturation of the hemolymphoid system.
Title: An in vivo study of the impact of deficiency in the DNA repair proteins PAXX and XLF on development and maturation of the hemolymphoid system.
Cernunnos/Xlf Deficiency Results in Suboptimal V(D)J Recombination and Impaired Lymphoid Development in Mice.
Title: Cernunnos/Xlf Deficiency Results in Suboptimal V(D)J Recombination and Impaired Lymphoid Development in Mice.
We propose that XLF and H2AX function in series to prevent replication stress induced by the MRE11-dependent resection of regressed arms at reversed replication forks.
Title: XLF and H2AX function in series to promote replication fork stability.
This damaging phenotype highlights the functional nexus between Xlf and Xrcc4, which is critical for the completion of NHEJ-dependent mechanisms during mouse development.
Title: PAXX and Xlf interplay revealed by impaired CNS development and immunodeficiency of double KO mice.
Synthetic lethality between DNA repair factors Xlf and Paxx is rescued by inactivation of Trp53
Title: Synthetic lethality between DNA repair factors Xlf and Paxx is rescued by inactivation of Trp53.
End joining of chromosomal breaks that are joined without causing insertion/deletion mutations requires several core canonical non-homologous end joining factors, including XLF. One of two binding domains of XLF is essential (L115 or C-terminal lysines that bind XRCC4 and KU/DNA, respectively), and that disruption of one of these domains sensitizes XLF to mutations that affect its dimer interface.
Title: C-NHEJ without indels is robust and requires synergistic function of distinct XLF domains.
we also find that PAXX deficiency has no impact on V(D)J recombination DSB joining in ATM-deficient pro-B lines. We discuss implications of these findings with respect to potential PAXX and XLF functions in C-NHEJ.
Title: PAXX and XLF DNA repair factors are functionally redundant in joining DNA breaks in a G1-arrested progenitor B-cell line.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4) 1 citation
Targeted (3) 1 citation

General gene information

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Markers

NoName (e-PCR)
- UniSTS:487979

D1Mit23 (e-PCR), detects polymorphism
- UniSTS:128574

AI874954 (e-PCR)
- UniSTS:207173

D1Mit252 (e-PCR), detects polymorphism
- UniSTS:128596

D1Mit252.1 (e-PCR), detects polymorphism
- UniSTS:128597

NoName (e-PCR)
- UniSTS:234154

Yspl1 (e-PCR), detects polymorphism
- UniSTS:144812

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA end binding	IBA Inferred from Biological aspect of Ancestor more info
enables DNA end binding	ISO Inferred from Sequence Orthology more info
enables DNA end binding	ISS Inferred from Sequence or Structural Similarity more info
enables DNA polymerase binding	IEA Inferred from Electronic Annotation more info
enables DNA polymerase binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in B cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in B cell differentiation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in DNA ligation involved in DNA repair	IEA Inferred from Electronic Annotation more info
involved_in DNA ligation involved in DNA repair	ISO Inferred from Sequence Orthology more info
involved_in T cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in T cell differentiation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in double-strand break repair via nonhomologous end joining	IBA Inferred from Biological aspect of Ancestor more info
involved_in double-strand break repair via nonhomologous end joining	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in double-strand break repair via nonhomologous end joining	ISO Inferred from Sequence Orthology more info
involved_in double-strand break repair via nonhomologous end joining	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in immunoglobulin V(D)J recombination	ISO Inferred from Sequence Orthology more info
involved_in immunoglobulin V(D)J recombination	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to ionizing radiation	ISO Inferred from Sequence Orthology more info
involved_in response to ionizing radiation	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Component	Evidence Code	Pubs
part_of DNA ligase IV complex	IBA Inferred from Biological aspect of Ancestor more info
part_of DNA-dependent protein kinase-DNA ligase 4 complex	ISO Inferred from Sequence Orthology more info
part_of DNA-dependent protein kinase-DNA ligase 4 complex	ISS Inferred from Sequence or Structural Similarity more info
located_in fibrillar center	IEA Inferred from Electronic Annotation more info
located_in fibrillar center	ISO Inferred from Sequence Orthology more info
part_of nonhomologous end joining complex	ISO Inferred from Sequence Orthology more info
part_of nonhomologous end joining complex	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info	PubMed
is_active_in site of double-strand break	ISO Inferred from Sequence Orthology more info
is_active_in site of double-strand break	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: non-homologous end-joining factor 1

Names: XRCC4-like factor; nonhomologous end-joining factor 1; protein cernunnos

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.