Version: 8.0.0Date: Tue Jan 28 2025
Gene
NFKB1
- Species
- Homo sapiens
- Symbol
- NFKB1
- Name
- nuclear factor kappa B subunit 1
- Synonyms
- CVID12
- DKFZp686C01211
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including DNA-binding transcription factor activity, RNA polymerase II-specific; actinin binding activity; and protein sequestering activity. Involved in several processes, including cellular response to cytokine stimulus; intracellular signaling cassette; and regulation of primary metabolic process. Acts upstream of or within cellular response to lipopolysaccharide. Located in cytosol; mitochondrion; and nucleoplasm. Is active in chromatin. Implicated in several diseases, including carcinoma (multiple); common variable immunodeficiency 12; melanoma; prostate cancer; and tropical spastic paraparesis. Biomarker of lung cancer; lung non-small cell carcinoma; pancreatic adenocarcinoma; and stomach cancer.
- RGD 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. 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR24169
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
Phenotype Term | Annotation details | References |
|---|---|---|
| No records match query. Try removing filters. | ||
Showing 0 - 0 of 0 rows
per page
Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
|---|---|---|---|---|---|---|---|
| No records match query. Try removing filters. | |||||||
Showing 0 - 0 of 0 rows
per page
Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
|---|---|---|---|---|---|---|---|
| No records match query. Try removing filters. | |||||||
Showing 0 - 0 of 0 rows
per page
Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
|---|---|---|---|---|---|
| No records match query. Try removing filters. | |||||
Showing 0 - 0 of 0 rows
per page
Sequence Feature Viewer
- Genome location
- Chr4:102501330...102617302 + (115.97 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.