NFKBIA
NFKBIA Gene Summary
This gene encodes a member of the NF-kappa-B inhibitor family, which contain multiple ankrin repeat domains. The encoded protein interacts with REL dimers to inhibit NF-kappa-B/REL complexes which are involved in inflammatory responses. The encoded protein moves between the cytoplasm and the nucleus via a nuclear localization signal and CRM1-mediated nuclear export. Mutations in this gene have been found in ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant disease. [provided by RefSeq, Aug 2011]
Details
| Type | Protein Coding |
| Official Symbol | NFKBIA |
| Official Name | NFKB inhibitor alpha [Source:HGNC Symbol;Acc:HGNC:7797] |
| Ensembl ID | ENSG00000100906 |
| Bio databases IDs | |
| Aliases | NFKB inhibitor alpha, NF-kappa-B inhibitor alpha |
| Synonyms | AI462015,EDAID2,I kappa B alpha,IkappaB α,IKBA,Ikb Kinase Alpha,Ikb Kinase α,IKBM,IkB α,I κ B α,I(κ)B(α),MAD-3,NF KAPPA beta alpha,NFKBI,NFKB inhibitor alpha,NFKB inhibitor α,NF κ β α,nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha,nuclear factor of κ light polypeptide gene enhancer in B cells inhibitor, α,pIkappaB α,RL/IF-1 |
| Species | Human, Homo sapiens |
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 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- glutamine leucine-rich domain
- transcription regulator
- Ankyrin repeats (many copies)
- regulatory domain
- heat shock protein binding
- cytoplasmic sequestration domain
- nuclear localization sequence binding
- identical protein binding
- Ankyrin repeat
- destruction box
- serine phosphorylation site
- ankyrin repeats
- ubiquitin protein ligase binding
- nuclear export signal
- NF-kappaB binding
- nuclear localization sequence
- signal response domain
- enzyme binding
- Ankyrin repeats (3 copies)
- protein binding
- acidic domain
- phosphorylation site
- PEST domain
- binding protein
- SR domain
Pathways
Biological processes and signaling networks where the NFKBIA gene plays a role, providing insight into its function and relevance in health or disease.
- 4-1BB Signaling in T Lymphocytes
- April Mediated Signaling
- B Cell Activating Factor Signaling
- CD27 Signaling in Lymphocytes
- Glucocorticoid Receptor Signaling
- HER-2 Signaling in Breast Cancer
- Hypoxia Signaling in the Cardiovascular System
- IL-17A Signaling in Airway Cells
- Induction of Apoptosis by HIV1
- LPS-stimulated MAPK Signaling
- Lymphotoxin β Receptor Signaling
- MIF Regulation of Innate Immunity
- MIF-mediated Glucocorticoid Regulation
- NF-κB Activation by Viruses
- NF-κB Signaling
- PEDF Signaling
- Prostate Cancer Signaling
- RANK Signaling in Osteoclasts
- Regulation of IL-2 Expression in Activated and Anergic T Lymphocytes
- Relaxin Signaling
- Role of PKR in Interferon Induction and Antiviral Response
- Role of RIG1-like Receptors in Antiviral Innate Immunity
- TNFR1 Signaling
- TNFR2 Signaling
- Toll-like Receptor Signaling
- TWEAK Signaling
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
- IKZF4
- IL1B
- RELA
- glycosaminoglycan
- SUMO1
- ARRB1
- UBE2I
- VCP
- ATF4
- ERRFI1
disease
- severe acute respiratory syndrome
- epithelial cancer
- epithelial neoplasia
- cancer
- cognitive impairment
- metastasis
- neoplasia
- rheumatoid arthritis
- insulin resistance
- lymphadenopathy
regulated by
- EGFR
- sirolimus
- CNTF
- DNM1L
- lipopolysaccharide
- ERBB2
- STK11
- Ca2+
- rotenone
- ethanol
regulates
- arachidonic acid
- TNF
- CASP3
- APP
- reactive oxygen species
- Ca2+
- JUN
- FN1
- FOS
- AR
role in cell
- production in
- activation in
- upregulation in
- proliferation
- binding in
- expression in
- apoptosis
- growth
- phosphorylation in
- cell death
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- nuclear fraction
- soluble fraction
- insoluble fractions
- cell periphery
- Nucleus
- Plasma Membrane
- centrosome
- lysosome
- Mitochondria
- cytosol
- microsome
- mitochondrial membrane
- mitochondrial intermembrane space
- lysosome membrane
- nucleoplasm
- nuclear speckles
- axon initial segments
- cytoplasmic fraction
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the NFKBIA gene, providing context for its role in the cell.
BIOLOGICAL PROCESS
Functions and activities the gene product is involved in
- cytoplasmic sequestering of NF-kappaB
- positive regulation of transcription initiation from RNA polymerase II promoter
- response to muramyl dipeptide
- negative regulation of I-kappaB kinase/NF-kappaB cascade
- positive regulation of transcription from RNA polymerase II promoter
- negative regulation of Notch signaling pathway
- positive regulation of protein metabolic process
- response to exogenous dsRNA
- positive regulation of cholesterol efflux
- cellular response to tumor necrosis factor
- nucleotide-binding oligomerization domain containing 1 signaling pathway
- response to muscle stretch
- B cell receptor signaling pathway
- negative regulation of myeloid cell differentiation
- negative regulation of NF-kappaB transcription factor activity
- positive regulation of inflammatory response
- toll-like receptor 4 signaling pathway
- NIK/NF-kappaB cascade
- I-kappaB kinase/NF-kappaB cascade
- regulation of cell proliferation
- tumor necrosis factor-mediated signaling pathway
- Notch signaling pathway
- nucleotide-binding oligomerization domain containing 2 signaling pathway
- protein import into nucleus
- lipopolysaccharide-mediated signaling pathway
- negative regulation of lipid storage
- negative regulation of macrophage derived foam cell differentiation
- interleukin-1-mediated signaling pathway
- cellular response to cold
CELLULAR COMPONENT
Where in the cell the gene product is active
- nucleus
- cytoplasm
- cytosol
- I-kappaB/NF-kappaB complex
- plasma membrane
- nucleoplasm
MOLECULAR FUNCTION
What the gene product does at the molecular level
- NF-kappaB binding
- identical protein binding
- ubiquitin protein ligase binding
- protein binding
- nuclear localization sequence binding
- enzyme binding