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
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
- GenAge microarray 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