Non-homologous end-joining factor 1

NHEJ1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesNHEJ1, XLF, non-homologous end joining factor 1
External IDsOMIM: 611290; MGI: 1922820; HomoloGene: 11714; GeneCards: NHEJ1; OMA:NHEJ1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

79840

75570

Ensembl

ENSG00000187736

ENSMUSG00000026162

UniProt

Q9H9Q4

Q3KNJ2

RefSeq (mRNA)

NM_024782

NM_029342

RefSeq (protein)

NP_079058
NP_001364427
NP_001364428

NP_083618

Location (UCSC)Chr 2: 219.08 – 219.16 MbChr 1: 75.01 – 75.1 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Non-homologous end-joining factor 1 (NHEJ1), also known as Cernunnos or XRCC4-like factor (XLF), is a protein that in humans is encoded by the NHEJ1 gene. XLF was originally discovered as the protein mutated in five patients with growth retardation, microcephaly, and immunodeficiency. The protein is required for the non-homologous end joining (NHEJ) pathway of DNA repair. Patients with XLF mutations also have immunodeficiency due to a defect in V(D)J recombination, which uses NHEJ to generate diversity in the antibody repertoire of the immune system. XLF interacts with DNA ligase IV and XRCC4 and is thought to be involved in the end-bridging or ligation steps of NHEJ. The yeast (Saccharomyces cerevisiae) homolog of XLF is Nej1.