Entrez 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].
UniProt Summary: DNA repair protein involved in DNA nonhomologous end joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination. May serve as a bridge between XRCC4 and the other NHEJ factors located at DNA ends, or may participate in reconfiguration of the end bound NHEJ factors to allow XRCC4 access to the DNA termini. It may act in concert with XRCC6/XRCC5 (Ku) to stimulate XRCC4-mediated joining of blunt ends and several types of mismatched ends that are noncomplementary or partially complementary (PubMed:16439204, PubMed:16439205, PubMed:17470781). Binds DNA in a length-dependent manner (PubMed:17317666). {ECO:0000269|PubMed:16439204, ECO:0000269|PubMed:16439205, ECO:0000269|PubMed:17317666, ECO:0000269|PubMed:17470781}.
Pfam DomainsGO Terms
Pfam Domains
XLF
GO Terms
DNA end binding
DNA ligase IV complex
positive regulation of ligase activity
nonhomologous end joining complex
regulation of ligase activity
double-strand break repair via nonhomologous end joining
non-recombinational repair
B cell differentiation
fibrillar center
T cell differentiation
response to ionizing radiation
B cell activation
double-strand break repair
T cell activation
lymphocyte differentiation
leukocyte differentiation
lymphocyte activation
response to radiation
DNA repair
hemopoiesis
hematopoietic or lymphoid organ development
immune system development
DNA metabolic process
cellular response to DNA damage stimulus
leukocyte activation
central nervous system development
cell activation
response to abiotic stimulus
positive regulation of catalytic activity
cellular response to stress
positive regulation of molecular function
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)