NFKB1 nuclear factor kappa B subunit 1
Gene ID: 4790, updated on 14-Nov-2024Gene type: protein coding
Also known as: KBF1; EBP-1; NF-kB; CVID12; NF-kB1; NFKB-p50; NFkappaB; NF-kappaB; NFKB-p105; NF-kappa-B1; NF-kappabeta
- See all available tests in GTR for this gene
- 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. 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. NFKB is a critical regulator of the immediate-early response to viral infection. Alternative splicing results in multiple transcript variants encoding different isoforms, at least one of which is proteolytically processed. [provided by RefSeq, Aug 2020]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. GeneReviews: Not available | |
| Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. GeneReviews: Not available | |
| Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. GeneReviews: Not available | |
| Genome-wide association study of treatment refractory schizophrenia in Han Chinese. GeneReviews: Not available | |
| Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits. GeneReviews: Not available | |
| Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. GeneReviews: Not available | |
| Immunodeficiency, common variable, 12 | See labs |
Genomic context
- Location:
- 4q24
- Sequence:
- Chromosome: 4; NC_000004.12 (102501359..102617302)
- Total number of exons:
- 27
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NFKB1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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