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FLASH GENE
Symbol NFKBIL1 contributors: mct/npt - updated : 27-08-2013
HGNC name nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1
HGNC id 7800
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY nuclear I&
954;appaB family
CATEGORY transcription factor
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,cytosolic
intracellular,nucleus
basic FUNCTION
  • nuclear transcription factor of kappa light chain gene enhancer in B cells
  • inhibitor of REL/NFKB transcription factors
  • (NF-kappa B) inhibitor, sequestering it in the cytoplasm, also inhibiting NF-kappa B DNA binding
  • influences the risk of developing systemic lupus erythematosus and primary Sjögren's syndrome
  • affected the pathogenesis of rheumatoid arthritis at least in part through the regulation of dendritic cells functions
  • functions in the nucleus and controls various inflammatory responses including autoimmune arthritis
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • may interact with members of the NF-kappaB/Rel family (Castiblanco 2008)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • rheumatoid arthritis
  • to systemic lupus erythematosus (SLE)and Sjögren's syndrome (SS)
  • to the development of chronic Chagas' cardiomyopathy among Trypanosoma cruzi-infected individuals (CCC)
  • Variant & Polymorphism SNP
  • 96452(T/A) increase the risk of rheumatoid arthritis
  • +738C allele was associated with a more than twofold and threefold increase in the risk of SLE and SS respectively, relative to the +738T allele (Castiblanco 2008)
  • -262A -62A was prevalent in patients with CCC (Ramasawmy 2008)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS