LongevityMap Gene

Gene details

HGNC symbol
NFKB1 
Aliases
p50; KBF1; p105; EBP-1; CVID12; NF-kB1; NFKB-p50; NFkappaB; NF-kappaB; NFKB-p105; NF-kappa-B 
Common name
nuclear factor kappa B subunit 1 
Description
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]
Cytogenetic Location
4q24
UCSC Genome Browser
View 4q24 on the UCSC genome browser
OMIM
164011
Ensembl
ENSG00000109320
UniProt/Swiss-Prot
A0A024RDJ4_HUMAN
Entrez Gene
4790
UniGene
618430
1000 Genomes
1000 Genomes

Homologs in model organisms

Drosophila melanogaster
Rel
Mus musculus
Nfkb1
Rattus norvegicus
Nfkb1

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Nfkb1
GenAge human genes
  • This gene is present as NFKB1

Studies (2)

Significant/Non-significant: 1/1

Study 1

Longevity Association
Non-significant
Population
Greek
Study Design
307 individuals (190 nonagenarians, 12 centenarians and 105 middle-aged controls) were genotyped for ACE, NFkB, and CETP genetic variants
Conclusions
No significant difference were found between case group and control group for NFkB and CETP
Indentifier
rs28362491
Reference

    Study 2

    Longevity Association
    Significant
    Population
    American (Caucasian)
    Study Design
    Genome-wide association study in 801 centenarians and 914 healthy controls
    Conclusions
    281 SNPs were found to discriminate between cases and controls
    Indentifier
    rs4647992
    Reference