NFKB1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | NFKB1 |
| Official Name | nuclear factor kappa B subunit 1 [Source:HGNC Symbol;Acc:HGNC:7794] |
| Ensembl ID | ENSG00000109320 |
| Bio databases IDs | |
| Aliases | nuclear factor kappa B subunit 1, Nuclear factor NF-kappa-B p105 subunit |
| Synonyms | CVID12, EBP-1, KBF1, NF-kappa-B, NF-kappa-B1, Nf kappa b DNA binding subunit, NF-kappabeta, NF KAPPA B subunit P50, NF-kB, NFKB subunit P105/P50, NF-κ-B, NF-κ-B1, Nf κ b DNA binding subunit, NF κ B subunit P50, NUCLEAR FACTOR KAPPA B DNA binding subunit, nuclear factor kappa B subunit 1, nuclear factor of kappa light polypeptide gene enhancer in B cells 1, p105, nuclear factor of κ light polypeptide gene enhancer in B cells 1, p105, NUCLEAR FACTOR κ B DNA binding subunit, nuclear factor κ B subunit 1, p105 Nfkb, p50 NF-kappaB, P50 nf κ b, P50/P105 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NFKB1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Death domain
- transcription regulator
- Ankyrin repeats (many copies)
- cell penetrating signal sequence
- Rel homology dimerization domain
- heat shock protein binding
- transcription cofactor
- transcription activation domain
- transcription factor binding
- chromatin binding
- identical protein binding
- Ankyrin repeat
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- ankyrin repeats
- glycine rich domain
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- dimerization domain
- DNA binding domain
- nucleic acid binding
- IPT
- actinin binding
- signal response domain
- nuclear localization sequence
- Ankyrin repeats (3 copies)
- protein binding
- sequence-specific DNA binding
- DNA binding
- PEST domain
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- binding protein
- double-stranded DNA binding
- N-terminal sub-domain of the Rel homology domain (RHD)
- Death Domain Superfamily of protein-protein interaction domains
- transcription factor activity
Pathways
Biological processes and signaling networks where the NFKB1 gene in human plays a role, providing insight into its function and relevance in health or disease.
- Angiopoietin Signaling
- April Mediated Signaling
- Aryl Hydrocarbon Receptor Signaling
- B Cell Activating Factor Signaling
- Cancer Drug Resistance By Drug Efflux
- CD40 Signaling
- GADD45 Signaling
- Glucocorticoid Receptor Signaling
- HER-2 Signaling in Breast Cancer
- IL-9 Signaling
- Induction of Apoptosis by HIV1
- Inflammasome pathway
- JAK/Stat Signaling
- LPS-stimulated MAPK Signaling
- LXR/RXR Activation
- Maturity Onset Diabetes of Young (MODY) Signaling
- MIF Regulation of Innate Immunity
- MIF-mediated Glucocorticoid Regulation
- Rac Signaling
- Role of JAK1, JAK2 and TYK2 in Interferon Signaling
- Th1 Pathway
- Th2 Pathway
- TNFR1 Signaling
- TNFR2 Signaling
- Toll-like Receptor Signaling
- Wnt/Ca+ pathway
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- primary open-angle glaucoma
- diarrhea
- neoplasia
- COVID-19
- cerebral hemorrhage
- Huntington disease
- prostate cancer
- fibrosis
- interstitial fibrosis
- rheumatoid arthritis
role in cell
- cell viability
- migration
- expression in
- phosphorylation in
- growth
- activation in
- cell death
- formation in
- production in
- cellular infiltration by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- secretory granule lumen
- Cytoplasm
- Extracellular Space
- Mitochondria
- cytosol
- mitochondrial matrix
- nucleoplasm
- nuclear matrix
- chromatin
- cytoplasmic fraction
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NFKB1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to cytokine stimulus
- positive regulation of transcription initiation from RNA polymerase II promoter
- transcription from RNA polymerase II promoter
- JNK cascade
- positive regulation of transcription from RNA polymerase II promoter
- negative regulation of transcription from RNA polymerase II promoter
- inflammatory response
- negative regulation of calcidiol 1-monooxygenase activity
- cellular response to interleukin-6
- positive regulation of transcription, DNA-dependent
- apoptotic process
- negative regulation of vitamin D biosynthetic process
- cellular response to dsRNA
- cellular response to stress
- cellular response to tumor necrosis factor
- response to muscle stretch
- negative regulation of protein metabolic process
- cellular response to nicotine
- B cell receptor signaling pathway
- positive regulation of miRNA metabolic process
- mammary gland involution
- negative regulation of inflammatory response
- positive regulation of canonical Wnt receptor signaling pathway
- NIK/NF-kappaB cascade
- I-kappaB kinase/NF-kappaB cascade
- positive regulation of hyaluronan biosynthetic process
- regulation of transcription from RNA polymerase II promoter
- negative regulation of gene expression
- cellular response to mechanical stimulus
- cellular response to lipopolysaccharide
- negative regulation of apoptotic process
- innate immune response
- cellular response to interleukin-1
- negative regulation of cholesterol transport
- negative regulation of interleukin-12 production
- positive regulation of macrophage derived foam cell differentiation
- positive regulation of lipid storage
Cellular Component
Where in the cell the gene product is active
- specific granule lumen
- extracellular region
- chromatin
- nucleoplasm
- transcription factor complex
- nucleus
- cytoplasm
- mitochondrion
- NF-kappaB p50/p65 complex
- cytosol
- secretory granule lumen
- I-kappaB/NF-kappaB complex
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- actinin binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- chromatin binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity
- sequence-specific DNA binding transcription factor activity
- transcription cofactor activity
- protein binding