NFKB1
LOCUS ID4790
GENE_SYMBOLNFKB1
GENE NAMEnuclear factor kappa B subunit 1
SYNONYMNSp50, KBF1, p105, EBP-1, CVID12, NF-kB1, NFKB-p50, NFkappaB, NF-kappaB, NFKB-p105, NF-kappa-B
CHROMOSOME4
HOMOLOGENE ID2971
microRNAsNANA
GENE SUMMARY
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. NFKB is a transcription regulator that is activated by various intra- and extra-cellular stimuli such as cytokines, oxidant-free radicals, ultraviolet irradiation, and bacterial or viral products. Activated NFKB translocates into the nucleus and stimulates the expression of genes involved in a wide variety of biological functions. Inappropriate activation of NFKB has been associated with a number of inflammatory diseases while persistent inhibition of NFKB leads to inappropriate immune cell development or delayed cell growth. Alternative splicing results in multiple transcript variants encoding different isoforms, at least one of which is proteolytically processed. [provided by RefSeq, Feb 2016]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. NFKB1 promoter -94 ins/del AGGT SNP is associated with increased possibility of developing nephropathy in patients with diabetes.28265344