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FLASH GENE
Symbol NFKB1 contributors: shn/npt/pgu - updated : 08-06-2016
HGNC name nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
HGNC id 7794
Corresponding disease
CVID12 Immunodeficiency, common variable, 12
Location 4q24      Physical location : 103.422.485 - 103.538.458
Synonym name
  • nuclear factor NF-kappa-B p50 subunit
  • DNA-binding factor KBF1
  • nuclear factor kappa-B, subunit 1
  • Synonym symbol(s) EVI157, KBF1, EBP-1, NF-kappa-B, NFKB-p105, NFKB-p50, p50, p105, MGC54151, DKFZp686C01211
    DNA
    TYPE functioning gene
    STRUCTURE 115.97 kb     24 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    motif repetitive sequence   other
    text structure polymorphism -94ins/del ATTG in the promoter, proximal to binding sites important to promoter regulation
    MAPPING cloned Y linked   status confirmed
    Map cen - D4S1591 - D4S2961 - NFKB1 - D4S3043 - D4S1572 - tel
    Physical map
    MGC27034 4q23 hypothetical protein MGC27034 MTP 4q24 microsomal triglyceride transfer protein (large polypeptide, 88kDa) LOC285556 4q23 hypothetical protein LOC285556 DAPP1 4q25-q27 dual adaptor of phosphotyrosine and 3-phosphoinositides MAP2K1IP1 4q24-q26 mitogen-activated protein kinase kinase 1 interacting protein 1 FLJ14281 4q23 hypothetical protein FLJ14281 H2AFZ 4q24 H2A histone family, member Z LOC256880 4q23 hypothetical LOC256880 LOC115265 EMCN 4q23 endomucin PPP3CA 4q21-q24 protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha) LOC90024 4q24 hypothetical LOC90024 BANK1 4q23 B-cell scaffold protein with ankyrin repeats 1 SLC39A8 4q22-q24 solute carrier family 39 (zinc transporter), member 8 NFKB1 4q24 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105) MANBA 4q22-q25 mannosidase, beta A, lysosomal UBE2D3 4q22.2 ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast) LOC150159 4q24 CG10806-like LOC133308 4q24 hypothetical protein BC009732 DHRS6 4q24 dehydrogenase/reductase (SDR family) member 6 CENPE 4q24-q25 centromere protein E, 312kDa LOC391678 4 similar to DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3; DEAD/H box-3; helicase like protein 2; CAP-Rf TACR3 4q25 tachykinin receptor 3 IDAX 4q22-q24 tachykinin receptor 3 LOC391679 4 similar to 60S ribosomal protein L6 (TAX-responsive enhancer element binding protein 107) (TAXREB107) (Neoplasm-related protein C140) FLJ20032 4q24 hypothetical protein FLJ20032 KIAA1546 4q24 KIAA1546 protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    24 - 4093 105 968 - 1999 10469655
    24 - 4090 - 968 - 1999 10469655
    - - - 50 433 - 2015 26279205
  • assembles a heteromeric transcription factor, predominantly with RELA, that is complexed with IKBA
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Lymphoid/Immunelymph node   highly
     spleen   highly
     thymus   highly
    Reproductivemale systemprostate   
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
     bone marrow  highly
    Connectivebone   
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/ImmuneB cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a rel homology domain (RHD), in the N-terminal portion, mediating dimerization, interaction with each protein specific inhibitors, and DNA binding
  • a putative nuclear localization signal (NLS)
  • a glycine rich sequence (poly G)
  • six ankyrin repeats encoding domain, including a decameric consensus of NFKBs
  • one DEATH domain
  • HOMOLOGY
    interspecies homolog to Nfkb1, Mus musculus
    ortholog to nfkb1, Danio rerio
    ortholog to NFKB1, Pan troglodytes
    ortholog to Nfkb1, Rattus norvegicus
    Homologene
    FAMILY
  • NF-kappa B/REL family
  • CATEGORY transcription factor , protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    text
  • trapped in the cytoplasm when inactivated, translocated to the nucleus after activation
  • found in both the nucleus and the cytoplasm
  • basic FUNCTION
  • transcription factor of kappa light chain gene enhancer in B cells
  • regulating the expression of immune response, apoptosis, and cell-growth control genes
  • having dual functions such as cytoplasmic retention of attached NF-kappa-B proteins and generation of p50 by a cotranslational processing
  • involved in many cellular processes, including response to oxidative damage and other signaling, and in neuronal growth and pruning by apoptosis
  • NFKB1 and NFKB2 proteins serve both as NF-kappaB precursors and inhibitors of NF-kappaB dimers
  • induces SENP2 (and SENP1) transcription selectively in response to genotoxic stimuli, which involves ataxia telangiectasia mutated (ATM)-dependent histone methylation of SENP2 promoter κB regions and NFKB1 recruitment
  • major signal transducer by which IL15 affects cellular permeability, endocytosis, and intracellular trafficking at the level of the blood-brain barrier
  • plays a key role in the inflammatory processes of airway diseases
  • NFKB1 and STAT3, are activated simultaneously by an intrinsic mechanism during stressful conditions of cancer cells, and they cooperatively induce various survival factors
  • roles for TNFSF12, BIRC3, and noncanonical NFKB signaling in the regulation of myoblast fusion and highlight a role for cytokine signaling during adult skeletal myogenesis
  • key regulator of adult and developmental arteriogenesis and collateral formation
  • FAS and NFKB1 play a role in the initiation and development of breast cancer, while VEGFC appears to promote lymph node metastasis
  • CELLULAR PROCESS cell life, antiapoptosis
    nucleotide, transcription
    PHYSIOLOGICAL PROCESS immunity/defense , inflammation
    PATHWAY
    metabolism
    signaling
    a component
  • NFKB complex with REL, RELA, RELB
  • RELB/NFKB1 regulates CCL19 production, but fails to promote dendritic cells maturation
  • PLCB1/CAMK4-NFKB1 is involved in AGER mediated signaling pathway in human endothelial cells
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • phosphorylated p65 associating with CREBBP and displaying the HDAC1-p50 complex
  • kappa light chain enhancer
  • governing the expression of genes encoding cytokines, chemokines, growth factors, cell adhesion molecules, acute phase proteins
  • interacting with TNIP1 (effects of TNIP1 on NFKB1 processing and of NFKB1 on stabilizing TNIP1 act to potentiate the NF-kappaB inhibitory activity of TNIP1)
  • NFKB1 regulates the expression of UACA, a novel apoptosis regulator, with involvement of proteasome and caspase for its degradation
  • critical role for NFKB1 in USP6-mediated tumorigenesis, suggesting that NFKB1 inhibitors may function as effective therapeutic agents in the treatment of aneurysmal bone cyst (ABC)
  • IL15 can signal via IL15RA, JNK, and NFKB1 to drive CCL5 production by myeloid cells
  • SCGB1A1 gene transfer may inhibit airway inflammation through suppressing the activation of NFKB1, which may provide us a new consideration in the therapy of airway inflammation
  • NLRC3 inhibited TLR-dependent activation of the transcription factor NFKB1 by interacting with the TLR signaling adaptor TRAF6 to attenuate Lys63 (K63)-linked ubiquitination of TRAF6 and activation of NFKB1
  • molecular link between two essential determinants of the circadian and immune mechanisms, the transcription factors CLOCK and NFKB1, respectively
  • GNB2 is required for starvation-induced NFKB1 activation and constitutive NFKB1 activity
  • FGFR2 serves as a scaffold for multiple components of the NFKB1 signaling complex
  • TBK1 negatively regulated IgA class switching by attenuating noncanonical signaling via the transcription factor NFKB1, an action that involved TBK1-mediated phosphorylation
  • its activity regulates mesenchymal stem cell accumulation at tumors, by inducing VCAM1 and thereby its interaction with tumor vessel endothelial cells
  • NFKB1 mediates TNFSF13-induced HOXC4 transcription
  • PLK4 is a direct NFKB1 target gene
  • NFKB1 inhibits NOD2-induced cytokine secretion through ATF3-dependent mechanisms
  • ZAP70 acts directly as an amplifier of NFKB1 signalling in Chronic lymphocytic leukaemia (CLL) cells which could be an underlying mechanism for its association with poor prognosis and which may represent a therapeutic target
  • KLF6 is an essential co-activator of NFKB1, suggesting new insight into the molecular regulation of RELA-dependent gene expression
  • IKBKB activates two "master" transcription factors of the innate immune system, IRF5 and NFKB1
  • ECSIT specifically interacted with RELA/NFKB1 proteins, which colocalized in the nucleus
  • NFKB1 may be involved in IL1B-induced activation of ADAMTS9 in human chondrocytes
  • CCL18 enhances hepatocellular carcinoma cell migration, invasion, and EMT through the expression of PITPNM3 and the activation of the NFKB1 signaling pathway
  • TRAF7 is involved in signal transduction pathways that lead either to activation or repression of NFKB1 transcription factor
  • cell & other
    REGULATION
    activated by numerous stimuli,cytokines,oxydant-free radicals, inhaled particles, ultraviolet irradiation, bacterial and viral products
    BCL10 through ubiquination of IKBKG
    GLUTAMATE
    induced by the phorbolester
    inhibited by NFKBIA, NFKBIB
    CYLD
    ASSOCIATED DISORDERS
    corresponding disease(s) CVID12
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       gain of function
    bile acids evoke placental inflammation by activating GPBAR1/NFKB1 pathway in intrahepatic cholestasis of pregnancy
    Susceptibility
  • to ulcerative colitis and many inflammatory diseases
  • to alcohol dependence
  • Variant & Polymorphism SNP , other
  • 94delATTG increases the risk for ulcerative colitis
  • SNP significantly associated with alcohol dependence
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    immunologyinflammatory 
    inhibitor of activation of NFKB1 as therapy in ulcerative colitis
    cancerlung 
    potential companion drug target, together with EGFR, in EGFR-mutant lung cancers treated with EGFR TKI
    ANIMAL & CELL MODELS