Homo sapiens Protein: NFKBIA
Summary
InnateDB Protein IDBP-4760.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NFKBIA
Protein Name nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
Synonyms IKBA; MAD-3; NFKBI;
Species Homo sapiens
Ensembl Protein ENSP00000216797
InnateDB Gene IDBG-4758 (NFKBIA)
Protein Structure
UniProt Annotation
Function Inhibits the activity of dimeric NF-kappa-B/REL complexes by trapping REL dimers in the cytoplasm through masking of their nuclear localization signals. On cellular stimulation by immune and proinflammatory responses, becomes phosphorylated promoting ubiquitination and degradation, enabling the dimeric RELA to translocate to the nucleus and activate transcription. {ECO:0000269PubMed:7479976}.
Subcellular Localization Cytoplasm. Nucleus. Note=Shuttles between the nucleus and the cytoplasm by a nuclear localization signal (NLS) and a CRM1-dependent nuclear export. {ECO:0000250}.
Disease Associations Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency autosomal dominant (ADEDAID) [MIM:612132]: A form of ectoderma dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. This form of ectodermal dysplasia is associated with decreased production of pro-inflammatory cytokines and certain interferons, rendering patients susceptible to infection. {ECO:0000269PubMed:14523047, ECO:0000269PubMed:18412279}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 234 experimentally validated interaction(s) in this database.
They are also associated with 30 interaction(s) predicted by orthology.
Experimentally validated
Total 234 [view]
Protein-Protein 210 [view]
Protein-DNA 23 [view]
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 30 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0008139 nuclear localization sequence binding
GO:0019899 enzyme binding
GO:0031072 heat shock protein binding
GO:0031625 ubiquitin protein ligase binding
GO:0032403 protein complex binding
GO:0042802 identical protein binding
GO:0051059 NF-kappaB binding
Biological Process
GO:0000060 protein import into nucleus, translocation
GO:0002224 toll-like receptor signaling pathway
GO:0002755 MyD88-dependent toll-like receptor signaling pathway
GO:0002756 MyD88-independent toll-like receptor signaling pathway
GO:0006915 apoptotic process
GO:0007253 cytoplasmic sequestering of NF-kappaB
GO:0010468 regulation of gene expression
GO:0010745 negative regulation of macrophage derived foam cell differentiation
GO:0010875 positive regulation of cholesterol efflux
GO:0010888 negative regulation of lipid storage
GO:0016032 viral process
GO:0031663 lipopolysaccharide-mediated signaling pathway
GO:0032088 negative regulation of NF-kappaB transcription factor activity
GO:0032270 positive regulation of cellular protein metabolic process
GO:0032481 positive regulation of type I interferon production
GO:0032495 response to muramyl dipeptide
GO:0032496 response to lipopolysaccharide
GO:0034134 toll-like receptor 2 signaling pathway
GO:0034138 toll-like receptor 3 signaling pathway
GO:0034142 toll-like receptor 4 signaling pathway
GO:0034146 toll-like receptor 5 signaling pathway
GO:0034162 toll-like receptor 9 signaling pathway
GO:0034166 toll-like receptor 10 signaling pathway
GO:0035666 TRIF-dependent toll-like receptor signaling pathway
GO:0038095 Fc-epsilon receptor signaling pathway
GO:0038123 toll-like receptor TLR1:TLR2 signaling pathway
GO:0038124 toll-like receptor TLR6:TLR2 signaling pathway
GO:0042127 regulation of cell proliferation
GO:0042345 regulation of NF-kappaB import into nucleus
GO:0042994 cytoplasmic sequestering of transcription factor
GO:0043066 negative regulation of apoptotic process
GO:0043330 response to exogenous dsRNA
GO:0043392 negative regulation of DNA binding
GO:0045087 innate immune response (InnateDB)
GO:0045638 negative regulation of myeloid cell differentiation
GO:0045746 negative regulation of Notch signaling pathway
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048011 neurotrophin TRK receptor signaling pathway
GO:0050852 T cell receptor signaling pathway
GO:0051092 positive regulation of NF-kappaB transcription factor activity
GO:0070417 cellular response to cold
GO:0070427 nucleotide-binding oligomerization domain containing 1 signaling pathway
GO:0070431 nucleotide-binding oligomerization domain containing 2 signaling pathway
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0033256 I-kappaB/NF-kappaB complex
GO:0043234 protein complex
Protein Structure and Domains
PDB ID
InterPro IPR002110 Ankyrin repeat
IPR020683 Ankyrin repeat-containing domain
PFAM PF00023
PF13606
PF11929
PF12796
PRINTS PR01415
PIRSF
SMART SM00248
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P25963
PhosphoSite PhosphoSite-P25963
TrEMBL Q9UGJ5
UniProt Splice Variant
Entrez Gene 4792
UniGene
RefSeq NP_065390
HUGO HGNC:7797
OMIM 164008
CCDS CCDS9656
HPRD 01235
IMGT
EMBL AJ249283 AJ249284 AJ249285 AJ249286 AJ249290 AJ249294 AJ249295 AK313421 AL133163 AY033600 AY496422 BC002601 BC004983 BT007091 CH471078 M69043
GenPept AAA16489 AAH02601 AAH04983 AAK51149 AAP35754 AAR29599 BAG36213 CAB65113 CAB65556 EAW65875