NHEJ1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | NHEJ1 |
| Official Name | non-homologous end joining factor 1 [Source:HGNC Symbol;Acc:HGNC:25737] |
| Ensembl ID | ENSG00000187736 |
| Bio databases IDs | |
| Aliases | non-homologous end joining factor 1, XRCC4-like factor |
| Synonyms | 1700029B21Rik, CERNUNNOS, IMD124, MCOPCB13, non-homologous end joining factor 1, XLF |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NHEJ1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- XLF-Cernunnos, XRcc4-like factor, NHEJ component
- enzyme binding
- protein binding
- N-terminal head domain found in the XRCC4 superfamily of proteins
- DNA end binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- head and neck neoplasia
- lymphomagenesis
- cancer
- hematologic cancer
- lymphoid cancer
- hematological neoplasia
- lymphatic neoplasia
- severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
- type 1 syndactyly
- peptic ulcer disease
regulates
- IgM
- IgG1
- genomic DNA
- RIGI
- IgG3
- TCR (family)
role in cell
- number
- apoptosis
- differentiation
- sensitivity
- breakage
- non-homologous end joining in
- orientation in
- progression in
- reversal in
- breakage in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- fibrillar center
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NHEJ1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- T cell differentiation
- DNA ligation involved in DNA repair
- central nervous system development
- B cell differentiation
- immunoglobulin V(D)J recombination
- positive regulation of ligase activity
- double-strand break repair via nonhomologous end joining
- response to ionizing radiation
Cellular Component
Where in the cell the gene product is active
- nucleus
- nonhomologous end joining complex
- site of double-strand break
- DNA-dependent protein kinase-DNA ligase 4 complex
- DNA ligase IV complex
- fibrillar center
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA polymerase binding
- protein binding
- DNA end binding