NHEJ1
Non-Homologous End Joining Factor 1
Gene Information Card
| Symbol | NHEJ1 |
|---|---|
| Full Name | Non-Homologous End Joining Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q35 |
| NCBI Gene ID | 79840 ncbi.nlm.nih.gov/gene/79840 |
| Ensembl ID | ENSG00000187736 |
| UniProt ID | Q9H9Q4 |
| OMIM ID | 611290 |
| HGNC ID | 25737 |
| Aliases | XLF, Cernunnos, FLJ12610 |
Description
The NHEJ1 gene encodes a component of the non-homologous end joining (NHEJ) DNA repair pathway, essential for repairing double-strand breaks. The protein, also known as XLF or Cernunnos, interacts with XRCC4 and DNA ligase IV to facilitate DNA ligation. Defects in NHEJ1 cause severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation | Loss-of-function mutations impair NHEJ repair, leading to defective V(D)J recombination and neuronal development | OMIM #611291 |
| Primary immunodeficiency | Impaired DNA repair in lymphocytes causes T- and B-cell deficiency | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 8.2 | Medium |
| Lymph node | 6.5 | Medium |
| Brain | 4.1 | Low |
| Testis | 3.8 | Low |
| Spleen | 5.9 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 7.3 | Cervical carcinoma |
| K562 | 6.8 | Leukemia |
| HEK293 | 5.5 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.175C>T (p.Arg59*) | Nonsense | Rare | Premature stop, loss of function |
| c.485G>A (p.Arg162Gln) | Missense | Rare | Impaired XRCC4 binding, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations are loss-of-function, leading to impaired NHEJ repair and immunodeficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA double-strand break repair via nonhomologous end joining | • double-strand break repair |
| • protein binding | • DNA binding |
| • nucleus |
Pathways
• Non-homologous end joining (KEGG: hsa03450)
• DNA repair
Protein Summary
NHEJ1 (XLF/Cernunnos) is a 299-amino acid protein that forms a homodimer and interacts with XRCC4 and DNA ligase IV to stimulate ligation of DNA ends during NHEJ. It is essential for V(D)J recombination in lymphocytes and for neural development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NHEJ1 Knockout HEK293 Cell Line | EDJ-KQ11887 | Human | 79840 | Details Get a Quote |
| NHEJ1 Knockout A-549 Cell Line | EDJ-KQ40332 | Human | 79840 | Details Get a Quote |
| NHEJ1 Knockout HCT 116 Cell Line | EDJ-KQ40333 | Human | 79840 | Details Get a Quote |
| NHEJ1 Knockout HeLa Cell Line | EDJ-KQ40334 | Human | 79840 | Details Get a Quote |
