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FLASH GENE
Symbol ANK1 contributors: mct - updated : 12-03-2015
HGNC name ankyrin 1, erythrocytic
HGNC id 492
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal band 3 binding domain with 24 tandem subunits of 33 amino-acids (the SW16/Ank repeat), important for lipid-binding activity of the beta-spectrin ankyrin-binding domain and its substantial role in maintaining the spectrin-based skeleton distribution
  • a regulatory domain
  • a DEATH domain
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY adaptor , structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,intermed filament
    intracellular,nucleus
    basic FUNCTION
  • play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains
  • adapter protein acting not only at the plasma membrane but also early in the secretory pathway to facilitate the intracellular trafficking of ATP1A1 and presumably other selected proteins
  • plays no significant function in enucleation of mammalian erythroblasts
  • plays critical roles in bridging spectrin/actin cytoskeleton to the cell surface lipid membrane and serving as a docking site for multiple membrane/cytoskeleton proteins
  • ANK1, in association with SPTBN2, has a critical role in modulating neuronal sodium channel activity and hence neuron excitability
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component ANK1/SLC4A1 complex connects the spectrin-based skeleton to the plasma membrane and helps maintain the vertical and horizontal integrities of the mature erythrocyte
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction of KCTD6 with ANK1 may have implications beyond muscle for hereditary spherocytosis
  • SPTBN2 is essential for the recruitment and maintenance of ANK1 at the plasma membrane of Purkinje cell dendrites
  • ANK1 interacts with ATP2A1 through its TM and cytoplasmic domains to regulate ATP2A1 activity and modulate sequestration of Ca(2+) in the sarcoplasmic reticulum lumen
  • ANK1 interacts likely with SLN both directly and in complex with ATP2A1 and reduces SLN inhibitory effect on ATP2A1 activity
    • cell & other
  • intermediate filament associated protein (IFAP, type III)
    • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SPH1 , DEL8PP
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice with homozygous mutations of ankyrin (nb/nb mice) exhibit nearly complete ankyrin deficiency and severe hemolytic anemia