• Gene id: 79840

Gene Summary

• Gene Symbol: NHEJ1   Gene   UCSC   Ensembl
• Aliases: XLF
• Gene name: non-homologous end joining factor 1
• Alternate names: non-homologous end-joining factor 1, XRCC4-like factor, nonhomologous end-joining factor 1, protein cernunnos,
• Gene location: 2q35 (219160814: 219069356)     Exons: 10     NC_000002.12
• Gene summary(Entrez): Double-strand breaks in DNA result from genotoxic stresses and are among the most damaging of DNA lesions. This gene encodes a DNA repair factor essential for the nonhomologous end-joining pathway, which preferentially mediates repair of double-stranded b

Protein Summary

• Protein general information: Q9H9Q4  
  • Name: Non homologous end joining factor 1 (Protein cernunnos) (XRCC4 like factor)
  • Length: 299  
  • Mass: 33337
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MEELEQGLLMQPWAWLQLAENSLLAKVFITKQGYALLVSDLQQVWHEQVDTSVVSQRAKELNKRLTAPPAAFLCH
  LDNLLRPLLKDAAHPSEATFSCDCVADALILRVRSELSGLPFYWNFHCMLASPSLVSQHLIRPLMGMSLALQCQV
  RELATLLHMKDLEIQDYQESGATLIRDRLKTEPFEENSFLEQFMIEKLPEACSIGDGKPFVMNLQDLYMAVTTQE
  VQVGQKHQGAGDPHTSNSASLQGIDSQCVNQPEQLVSSAPTLSAPEKESTGTSGPLQRPQLSKVKRKKPRGLFS

• Structural information:
  • Interpro: IPR015381  
  • PDB: 2QM4 2R9A 3Q4F 3RWR 3SR2 3W03 6ERG 6ERH
  • PDBsum: 2QM4 2R9A 3Q4F 3RWR 3SR2 3W03 6ERG 6ERH
  • DIP: 37959
  • STRING: ENSP00000349313
• Other Databases: GeneCards:  NHEJ1  Malacards:  NHEJ1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045027	DNA end binding	IBA	molecular function
GO:0006303	double-strand break repair via nonhomologous end joining	IBA	biological process
GO:0032807	DNA ligase IV complex	IBA	cellular component
GO:0070419	nonhomologous end joining complex	IBA	cellular component
GO:0070419	nonhomologous end joining complex	IDA	cellular component
GO:0070419	nonhomologous end joining complex	IDA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006302	double-strand break repair	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006303	double-strand break repair via nonhomologous end joining	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0010212	response to ionizing radiation	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0030217	T cell differentiation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0007417	central nervous system development	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0051351	positive regulation of ligase activity	NAS	biological process
GO:0030183	B cell differentiation	IMP	biological process
GO:0006303	double-strand break repair via nonhomologous end joining	IMP	biological process
GO:0006303	double-strand break repair via nonhomologous end joining	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa03450	Non-homologous end-joining

Diseases

Associated diseases	References
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation	KEGG:H00924
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation	KEGG:H00924
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R