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FLASH GENE
Symbol IKBKAP contributors: mct/npt/pgu/shn - updated : 30-06-2013
HGNC name inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
HGNC id 5959
Corresponding disease
HSAN3 hereditary sensory and autonomic neuropathy, type III
Location 9q31.3      Physical location : 111.629.800 - 111.696.608
Synonym name
  • IKK complex associated protein
  • ikappaB kinase complex-associated protein
  • B-cells, kinase complex-associated protein
  • elongator complex protein 1
  • elongator acetyltransferase complex subunit 1
  • dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)
  • Synonym symbol(s) IKAP, DYS, ELP1, FD, FLJ12497, IKI3, TOT1, DKFZp781H1425, p150
    DNA
    TYPE functioning gene
    STRUCTURE 66.81 kb     37 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D9S1801 - D9S261 - IKBKAP - D9S1677 - D9S1835 - qter
    Physical map
    LOC392379 9 similar to constitutive photomorphogenic protein FLJ13385 9q32 hypothetical protein FLJ13385 ZNF462 9q32 zinc finger protein 462 LOC389782 9 LOC389782 RAD23B 9q31.2 RAD23 homolog B (S. cerevisiae) KLF4 9q31 Kruppel-like factor 4 (gut) LOC392380 9 similar to peptidylprolyl isomerase A (cyclophilin A) LOC392381 9 similar to large subunit ribosomal protein L36a LOC392382 9 similar to ribosomal protein L31 LOC347292 9q32 similar to ribosomal protein L36; 60S ribosomal protein L36 IKBKAP 9q31 inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein ACTL7B 9q31 actin-like 7B ACTL7A 9q31 actin-like 7A FLJ20457 9q32 hypothetical protein FLJ20457 CTNNAL1 9q31.2 catenin (cadherin-associated protein), alpha-like 1 C9orf5 9q31 chromosome 9 open reading frame 5 EPB41L4B 9q22.1-q22.3 erythrocyte membrane protein band 4.1 like 4B FLJ21596 9q32 hypothetical protein FLJ21596 PTPN3 9q31.2 protein tyrosine phosphatase, non-receptor type 3 LOC347295 9q32 similar to DNA-binding protein B LOC389783 9 LOC389783 AKAP2 9q31-q33 a kinase (PRKA) anchor protein 2 PALM2 9q31-q33 paralemmin 2 TXN 9q31 thioredoxin LOC255220 9q32 similar to RIKEN cDNA 4930429J24 MUSK 9q31.3-q32 muscle, skeletal, receptor tyrosine kinase EDG2 9q31.3-q32 endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    37 - 6129 150 1332 - 2001 11179008
    also called FL
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • five WD-like repeats
  • consensus serine/threonine kinase phosphorylation site
  • HOMOLOGY
    interspecies ortholog to Ikbkap, Mus musculus
    ortholog to Ikbkap, Rattus norvegicus
    ortholog to ikbkap, danio rerio
    ortholog to IKBKAP, Pan troglodytes
    Homologene
    FAMILY
  • ELP1/IKA1 family
  • CATEGORY chaperone/stress , receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleolus
    text membrane ruffles
    basic FUNCTION
  • role in the regulation of activation of the mammalian stress response via the c-Jun N-terminal kinase (JNK)-signaling pathway
  • may act as a scaffold protein that may assemble active IKK-MAP3K14 complexes (IKKA, IKKB and MAP3K14/NIK)
  • may play a role in oligodendrocyte differentiation and/or myelin formation
  • role in cell adhesion and migration
  • crucial for both vascular and neural development during embryogenesis and that protein function is conserved between mouse and human
  • involved in cytoskeleton regulation
  • involved in cell adhesion and migration through cytosolic interactions
  • involved in regulating the expression of the microtubules (MT) destabilizing protein STMN2, and STMN2 elevation observed in IKBKAP-deficient cells can alter the MT organization and dynamics which could play a pivotal role in familial dysautonomia
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • component of the IKK (Ikappa B kinase)complex
  • core Elongator complex formed by IKBKAP, ELP2, and ELP3 was rather stable, whereas ELP4, ELP5, and ELP6 might loosely contact and work together with the core Elongator to regulate cell functions
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NF-kappaB-inducing kinase, NIK and cytokine-activated IKB kinases, IKKs
  • STMN2
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HSAN3 , FD
    related resource Mutation Database of Inherited Peripheral Neuropathies
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in Hirschsprung disease, and association was stronger in patients carrying RET no coding sequence mutations
    Susceptibility to bronchial asthma
    Variant & Polymorphism SNP Cys1072 ser/Pro1158 Leu
    Candidate gene
    Marker
    Therapy target
  • treatment of Familial dysautonomia lymphoblast cell lines with kinetin increases IKBKAP mRNA and IKAP protein to normal levels
  • kinetin is capable to alter the IKBKAP splicing in the transgenic mice carrying the Familial dysautonomia BAC containing the the IVS20+6T>C splice site mutation and to correct the IKBKAP splicing in all major tissues including the brain
  • SystemTypeDisorderPubmed
    dermatology  
    kinetin therapeutic in dysautonomia and perhaps in other splicing disorder
    ANIMAL & CELL MODELS
  • various RNA-interference-based depletions of IKAP lead to defective adhesion and migration in several cell types, including rat primary neurons
  • in the mouse model carrying the complete human IKBKAP locus with the FD IVS20+6T-->C splice mutation, the mutant IKBKAP transgene is misspliced in this model in a tissue-specific manner that replicates the pattern seen in familial dysautonomia patient tissues
  • Depletion of IKAP resulted in a significant decrease in filamin A localization in membrane ruffles and defective actin cytoskeleton organization
  • mouse lines caring the human IVS20+6T>C splice site mutation in the IKBKAP gene exhibit the same tissue-specific aberrant splicing patterns as seen in Familial dysautonomia patients