2025年3月30日 · NFKB1 (Nuclear Factor Kappa B Subunit 1) is a Protein Coding gene. Diseases associated with NFKB1 include Immunodeficiency, Common Variable, 12, With Autoimmunity and Common Variable Immunodeficiency. Among its related pathways are Toll Like Receptor 7/8 (TLR7/8) Cascade and TNFR1 Pathway.

2015年12月3日 · Several functional analyses showed that the mutations had a negative impact on NFKB1 function. The H67R variant increased NFKB1 affinity to NEMO and delayed protein entry to nucleus, when assessed by affinity purification …

We show that heterozygous loss-of-function variants in NFKB1 are the most common known monogenic cause of CVID, which results in a temporally progressive defect in the formation of immunoglobulin-producing B cells. Key words: B cells, common variable immunodeficiency, nuclear factor κB1.

2025年2月8日 · Gene target information for NFKB1 - nuclear factor kappa B subunit 1 (human). Find diseases associated with this biological target and compounds tested against it in bioassay experiments.

Gene ID: 4790, updated on 8-Feb-2025. This gene encodes a 105 kD protein which can undergo cotranslational processing by the 26S proteasome to produce a 50 kD protein. The 105 kD protein is a Rel protein-specific transcription inhibitor and the 50 kD protein is a DNA binding subunit of the NF-kappa-B (NFKB) protein complex.

The importance of Nfkb1 function can be seen in mouse models, where Nfkb1 (-/-) mice display increased inflammation and susceptibility to certain forms of DNA damage, leading to cancer, and a rapid ageing phenotype.

NFKB1, a core transcription factor critical in various biological process (BP), is increasingly studied for its role in tumors. This research combines literature reviews, meta-analyses, and bioinformatics to systematically explore NFKB1's involvement in tumor initiation and progression.

S5 shows population genetics of human NFKB1 and a summary of NFKB1 variants in patients with CVID or related conditions. Table S1 lists NFKB1 variants in our and other databases of healthy and sick individuals.

NFKB1 or NFKB2 (164012) is bound to REL (164910), RELA (164014), or RELB (604758) to form the NFKB complex. The NFKB complex is inhibited by I-kappa-B proteins (NFKBIA, 164008 or NFKBIB, 604495), which inactivate NF-kappa-B by trapping it in the cytoplasm.

We present a comprehensive clinical overview of the NF-κB1–related phenotype, which includes immunodeficiency, autoimmunity, autoinflammation, and cancer. Because of its multisystem involvement, clinicians from each and every medical discipline need to be made aware of this autosomal-dominant disease.