Gene
nhej1
- ID
- ZDB-GENE-040426-2515
- Name
- nonhomologous end-joining factor 1
- Symbol
- nhej1 Nomenclature History
- Previous Names
-
- zgc:85657
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to enable DNA end binding activity. Predicted to be involved in double-strand break repair via nonhomologous end joining and immunoglobulin V(D)J recombination. Predicted to act upstream of or within double-strand break repair. Predicted to be located in chromosome and nucleus. Predicted to be part of DNA ligase IV 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).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| severe combined immunodeficiency 124 | Alliance | Immunodeficiency 124, severe combined | 611291 |
| Microphthalmia/coloboma 13 | 620968 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Non-homologous end-joining factor | XLF-like, coiled-coil region | XLF-like, N-terminal | XRCC4-like, N-terminal domain superfamily |
|---|---|---|---|---|---|
|
UniProtKB:Q6NV18
|
309 |
Interactions and Pathways
No data available
Plasmids
No data available