Entrez Summary: This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The encoded protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins. The protein also functions in the regulation of the cell cycle in response to DNA damage. Mutations in this gene can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014].
UniProt Summary: N/A
Pfam DomainsGO Terms
Pfam Domains
Lactamase B 2
DRMBL
GO Terms
5-3 exodeoxyribonuclease activity
protection from non-homologous end joining at telomere
nonhomologous end joining complex
single-stranded DNA endodeoxyribonuclease activity
telomere maintenance in response to DNA damage
5-3 exonuclease activity
V(D)J recombination
telomere capping
somatic diversification of immune receptors via germline recombination within a single locus
somatic cell DNA recombination
endonuclease activity
somatic diversification of immune receptors
interstrand cross-link repair
damaged DNA binding
double-strand break repair via nonhomologous end joining
non-recombinational repair
telomere maintenance
telomere organization
B cell differentiation
nuclear chromosome, telomeric region
response to ionizing radiation
B cell activation
double-strand break repair
DNA recombination
lymphocyte differentiation
nucleic acid phosphodiester bond hydrolysis
leukocyte differentiation
anatomical structure homeostasis
lymphocyte activation
response to radiation
DNA repair
hemopoiesis
hematopoietic or lymphoid organ development
adaptive immune response
immune system development
DNA metabolic process
cellular response to DNA damage stimulus
leukocyte activation
Golgi apparatus
chromosome organization
cell activation
response to abiotic stimulus
homeostatic process
cellular response to stress
immune response
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)