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FLASH GENE
Symbol ANKS1B contributors: mct/npt/pgu - updated : 09-03-2010
HGNC name ankyrin repeat and sterile alpha motif domain containing 1B
HGNC id 24600
Location 12q23.1      Physical location : 99.129.070 - 100.378.432
Synonym name
  • ANKS1B protein
  • E2a-Pbx1-associated protein
  • amyloid-beta precursor protein intracellular domain associated protein 1
  • cajalin 2
  • Synonym symbol(s) AIDA, MGC26087, ANKS2, EB-1, cajalin-2, AIDA-1
    DNA
    TYPE functioning gene
    STRUCTURE 1249.36 kb     26 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    26 splicing 4431 138 1248 - 2005 15862129
  • AIDA-1a
  • does not bind coilin as efficiently as AIDA-1c
  • intracellular distribution of AIDA-1a can be modified by over-expression of AbetaPP
  • - splicing 3287 57 510 - 2005 15862129
    11 splicing 1714 47 414 in brain and several cancer cell lines 2005 15862129
  • AIDA-1c
  • interacts with the Cajal bodie marker protein, coilin
  • competes with SmB' for coilin binding sites, but does not bind SMN
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel   moderately
    Digestivemouthtongue  moderately
    Lymphoid/Immunethymus   highly
    Nervousbrain   predominantly
    Reproductivemale systemtestis  moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousperipherous   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two tandem Eph-related sterile alpha motifs (SAMs)
  • at C-terminus, two closely juxtaposed sterile alpha motif (SAM) domains (observed disparity between the thermal stabilities of the two SAM domains suggests a mechanism whereby the second SAM domain decouples from the first SAM domain to facilitate translocation of ANKS1B to the nucleus) and a phosphotyrosine binding domain
  • HOMOLOGY
    interspecies ortholog to murine Anks1b
    Homologene
    FAMILY
  • ankyrin repeat and sterile alpha motif domain-containing (Anks) protein family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    text membrane-associated
    basic FUNCTION
  • may participate in the regulation of nucleoplasmic coilin protein interactions in neuronal and transformed cells
  • possible role in normal brain development and in the pathogenesis of Alzheimer disease
  • possible function for ANKS family proteins as scaffolding proteins of the EPHA8 signaling pathway
  • neuronal scaffolding protein, believed to act as a convener of signals arising at postsynaptic densities
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • possible function for ANKS family proteins (ANKS1A, ANKS1B) as scaffolding proteins of the EPHA8 signaling pathway
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in pre-B acute lymphocytic leukemia (ALL) cells carrying the t(1;19) translocation
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS