XLF (protein)

XLF (protein)

Identifiers Symbols NHEJ1; XLF External IDs OMIM: 611290 MGI: 1922820 HomoloGene: 11714 GeneCards: NHEJ1 Gene

Gene Ontology
Molecular function	• DNA binding • protein binding
Cellular component	• nucleus • nonhomologous end joining complex
Biological process	• double-strand break repair via nonhomologous end joining • DNA recombination • central nervous system development • response to ionizing radiation • B cell differentiation • T cell differentiation • positive regulation of ligase activity
Sources: Amigo / QuickGO

Orthologs Species Human Mouse Entrez 79840 75570 Ensembl ENSG00000187736 ENSMUSG00000026162 UniProt Q9H9Q4 Q3KNJ2 RefSeq (mRNA) NM_024782 NM_029342 RefSeq (protein) NP_079058 NP_083618 Location (UCSC) Chr 2:
219.94 – 220.03 Mb Chr 1:
74.97 – 75.05 Mb PubMed search

XLF (XRCC4-like factor), also known as Cernunnos, is a protein encoded by the human 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 utilizes NHEJ to promote immune system diversity. XLF interacts with DNA ligase IV and XRCC4 and is thought to be involved in the ligation step of NHEJ. The yeast (Saccharomyces cerevisiae) homolog of XLF is Nej1.