Version 5.4
Homo sapiens Gene: NHEJ1
Summary
InnateDB Gene IDBG-81282.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NHEJ1
Gene Name nonhomologous end-joining factor 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000187736
Encoded Proteins
IDBP-81286
nonhomologous end-joining factor 1
IDBP-293026
nonhomologous end-joining factor 1
IDBP-388983
nonhomologous end-joining factor 1
IDBP-388984
nonhomologous end-joining factor 1
IDBP-388986
nonhomologous end-joining factor 1
IDBP-388987
nonhomologous end-joining factor 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 breaks. Mutations in this gene cause different kinds of severe combined immunodeficiency disorders. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:219075317-219160865
Strand Reverse strand
Band q35
Transcripts
ENST00000356853 ENSP00000349313
ENST00000409720 ENSP00000387290
ENST00000418099 ENSP00000408966
ENST00000426304 ENSP00000394896
ENST00000457600 ENSP00000407201
ENST00000450447 ENSP00000408421
ENST00000494211
ENST00000491159
ENST00000483627
ENST00000481764
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 8 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0005515 protein binding
Biological Process
GO:0006281 DNA repair
GO:0006302 double-strand break repair
GO:0006303 double-strand break repair via nonhomologous end joining
GO:0006310 DNA recombination
GO:0007417 central nervous system development
GO:0010212 response to ionizing radiation
GO:0030183 B cell differentiation
GO:0030217 T cell differentiation
GO:0051351 positive regulation of ligase activity
Cellular Component
GO:0005634 nucleus
GO:0070419 nonhomologous end joining complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000026162
View Gene Order
ENSBTAG00000031041
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa03450
Non-homologous end-joining pathway
INOH
PID NCI
dnapk_pathway
DNA-PK pathway in nonhomologous end joining
Cross-References
SwissProt Q9H9Q4
TrEMBL C9JWV4 F8WEB8 G5E9Q8 H7C0G7
UniProt Splice Variant
Entrez Gene 79840
UniGene Hs.225988
RefSeq NM_024782
HUGO HGNC:25737
OMIM 611290
CCDS CCDS2432
HPRD
IMGT
EMBL AC020575 AC068946 AC097468 AJ972687 AK022672 BC008210 BC012732 BC030986 CH471063 CR457291
GenPept AAH08210 AAH12732 AAH30986 AAX88921 BAB14168 CAG33572 CAI99410 EAW70679
RNA Seq Atlas 79840

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca