NFKBIA IKBA MAD3 NFKBI

NF-kappa-B inhibitor alpha ;
I-kappa-B-alpha ;
IkB-alpha ;
IkappaBalpha ;
Major histocompatibility complex enhancer-binding protein MAD3 ;

disease:Defects in NFKBIA are the cause of ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant (ADEDAID) [MIM:612132]. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. ADEDAID is an ectodermal dysplasia associated with decreased production of pro-inflammatory cytokines and certain interferons , rendering patients susceptible to infection. ,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 tranlocate to the nucleus and activate transcription. ,induction:Induced in adherent monocytes. ,online information:NFKBIA mutation db ,PTM:Phosphorylated; disables inhibition of NF-kappa-B DNA-binding activity. ,PTM:Sumoylated; sumoylation requires the presence of the nuclear import signal. ,PTM:Ubiquitinated; subsequent to stimulus-dependent phosphorylation on serines. ,similarity:Belongs to the NF-kappa-B inhibitor family. ,similarity:Contains 5 ANK repeats. ,subcellular location:Shuttles between the nucleus and the cytoplasm by a nuclear localization signal (NLS) and a CRM1-dependent nuclear export. ,subunit:Interacts with RELA; the interaction requires the nuclear import signal. Interacts with NKIRAS1 and NKIRAS2. Part of a 70-90 kDa complex at least consisting of CHUK , IKBKB , NFKBIA , RELA , IKBKAP and MAP3K14. Interacts with HBV protein X. Interacts with RWDD3; the interaction enhances sumoylation. ,

protein import into nucleus , translocation , activation of innate immune response , pattern recognition receptor signaling pathway , toll-like receptor signaling pathway , response to molecule of bacterial origin , activation of immune response , positive regulation of immune system process , immune response-activating signal transduction , innate immune response-activating signal transduction , immune response-regulating signal transduction , regulation of transcription , DNA-dependent , regulation of transcription from RNA polymerase II promoter , protein targeting , protein import into nucleus , intracellular protein transport , nucleocytoplasmic transport , apoptosis , anti-apoptosis , cell surface receptor linked signal transduction , intracellular signaling cascade , protein kinase cascade , I-kappaB kinase/NF-kappaB cascade , cytoplasmic sequestering of NF-kappaB , protein localization , cell death , regulation of Notch signaling pathway , response to bacterium , positive regulation of biosynthetic process , negative regulation of signal transduction , response to organic substance , regulation of specific transcription from RNA polymerase II promoter ,positive regulation of specific transcription from RNA polymerase II promoter , positive regulation of macromolecule biosynthetic process , positive regulation of macromolecule metabolic process , positive regulation of gene expression ,negative regulation of cell communication , regulation of foam cell differentiation , negative regulation of foam cell differentiation , regulation of cholesterol efflux , positive regulation of cholesterol efflux , regulation of lipid storage ,negative regulation of lipid storage , regulation of cell death , programmed cell death , protein transport , death , protein import , positive regulation of cellular biosynthetic process , positive regulation of defense response ,lipopolysaccharide-mediated signaling pathway , negative regulation of NF-kappaB transcription factor activity ,regulation of cellular protein metabolic process , positive regulation of cellular protein metabolic process , regulation of lipid transport , positive regulation of lipid transport , regulation of sterol transport , positive regulation of sterol transport , regulation of cholesterol transport , positive regulation of cholesterol transport , regulation of intracellular transport , negative regulation of intracellular transport , response to peptidoglycan , response to muramyl dipeptide ,response to lipopolysaccharide , maintenance of protein location in cell , regulation of gene-specific transcription ,regulation of protein localization , regulation of intracellular protein transport , protein localization in organelle , toll-like receptor 4 signaling pathway , protein localization in nucleus , cellular protein localization , regulation of cell proliferation , regulation of protein import into nucleus , negative regulation of protein import into nucleus , regulation of NF-kappaB import into nucleus , negative regulation of NF-kappaB import into nucleus , regulation of apoptosis ,regulation of transcription factor import into nucleus , negative regulation of transcription factor import into nucleus ,cytoplasmic sequestering of transcription factor , negative regulation of apoptosis , regulation of programmed cell death , negative regulation of programmed cell death , positive regulation of gene-specific transcription , response to exogenous dsRNA , response to dsRNA , negative regulation of DNA binding , negative regulation of transcription factor activity , negative regulation of molecular function , regulation of innate immune response , positive regulation of innate immune response , establishment of protein localization , maintenance of protein location , regulation of transcription ,negative regulation of cell differentiation , regulation of myeloid cell differentiation , negative regulation of myeloid cell differentiation , negative regulation of Notch signaling pathway , positive regulation of transcription , DNA-dependent ,positive regulation of nucleobase , nucleoside , nucleotide and nucleic acid metabolic process , positive regulation of transcription , positive regulation of transcription from RNA polymerase II promoter , regulation of nucleocytoplasmic transport , negative regulation of nucleocytoplasmic transport , intracellular transport , positive regulation of response to stimulus , positive regulation of immune response , positive regulation of transport , negative regulation of transport ,regulation of transcription factor activity , regulation of binding , negative regulation of binding , regulation of DNA binding , nuclear transport , nuclear import , positive regulation of nitrogen compound metabolic process , cytoplasmic sequestering of protein , regulation of protein transport , negative regulation of protein transport , maintenance of location , positive regulation of protein metabolic process , regulation of RNA metabolic process , positive regulation of RNA metabolic process , maintenance of location in cell , regulation of cellular localization , negative regulation of cell death , regulation of establishment of protein localization , nucleotide-binding oligomerization domain containing signaling pathway , nucleotide-binding oligomerization domain containing 1 signaling pathway , nucleotide-binding oligomerization domain containing 2 signaling pathway , cellular macromolecule localization ,

Cytoplasm. Nucleus. Shuttles between the nucleus and the cytoplasm by a nuclear localization signal (NLS) and a CRM1-dependent nuclear export. .