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non-homologous end-joining factor 1 (protein Cernunnos, XRCC4-like factor, NHEJ1, XLF)
Function:
1) DNA repair protein involved in DNA nonhomologous end joining in DNA double-strand break repair & V(D)J recombination
2) bridge between XRCC4 & other factors located at DNA ends
3) interacts with XRCC4
Compartment: nucleus
Alternative splicing: named isoforms=2
Expression: ubiquitously expressed
Pathology:
- defects in NHEJ1 are a cause of combined immune deficiency
Notes:
- named 'Cernunnos' after the Celtic god of hunt, underworld & fertility
General
other protein
Properties
SIZE: MW = 33 kD
entity length = 299 aa
COMPARTMENT: cell nucleus
Database Correlations
UniProt Q9H9Q4
References
UniProt :accession Q9H9Q4