2024年12月25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.

The Nfkb1 and Nfkb2 proteins, p105 and p100, have dual functions in the NF-κB signaling system. They are best known as precursors of p50 and p52. The rate of processing of the p105 and p100 regulates the availability of NF-κB dimers whose activity is regulated by IκB proteins.

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.

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.

High NFKB1 expression is associated with inflammatory uveal melanoma. NFKB1 rs28362491 polymorphism was significantly associated with the risk of head and neck carcinoma, especially with nasopharyngeal carcinoma.

2025年2月8日 · Wnt/beta-catenin and NFkappaB signaling synergize to trigger growth factor-free regeneration of adult primary human hepatocytes.

2018年2月23日 · This study has revealed that mutations in the NFKB1 gene are the most common monogenic cause of CVID. The authors highlight that if an NFKB1 mutation is identified in a patient, other relatives, including those who are still asymptomatic, should have the genetic test so that mutation carriers can be closely monitored for disease development.

The complete exon-intron structure of the 156-kb human gene NFKB1, which encodes the p105 and p50 proteins of transcription factors NF-kappa-B and I-kappa-B-gamma: implications for NF-kappa-B-mediated signal transduction. Genomics 30: 493-505, 1995.

2002年6月20日 · The NF-kappa-B p50-p50 homodimer is a transcriptional repressor, but can act as a transcriptional activator when associated with BCL3. NFKB1 appears to have dual functions such as cytoplasmic retention of attached NF-kappa-B proteins by p105 and generation of p50 by a cotranslational processing.

2025年2月8日 · Go to complete Gene record for NFKB1; Go to Variation Viewer for NFKB1 variants; Summary. This gene encodes a 105 kD protein which can undergo cotranslational processing by the 26S proteasome to produce a 50 kD protein.