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FLASH GENE
Symbol ANK3 contributors: shn/npt - updated : 20-10-2016
HGNC name ankyrin 3, node of Ranvier (ankyrin G)
HGNC id 494
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an N terminal band 3 binding domain made of 24 tandem subunits of 33 amino-acids (the SW16/Ank repeat)
  • a spectrin binding domain a
  • a regulatory domain with alternatively spliced isoforms
  • a ZU5 domain
  • a death domain
  • Obscurin/Titin-Binding-related Domain (OTBD), a muscle-specific insert of the C-terminal domain which is highly conserved among ankyrin genes, that confer ankyrins with a gain of function in vertebrates, bringing further consolidation and resilience of the linkage between sarcomeres and sarcolemma
    • HOMOLOGY
    interspecies ortholog to Ank3, Rattus norvegicus
    ortholog to Ank3, Mus musculus
    homolog to LOC569152, Danio rerio
    Homologene
    FAMILY
  • ankyrins family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytoskeleton,intermed filament
    basic FUNCTION
  • plays a role in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains
  • axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems
  • ankyrin-G is required for transport of CNG channels to the plasma membrane of rod outer segments and is required for rod outer segments morphogenesis
  • ankyrin-G plays role(s) in either assembly and/or maintenance of rod outer segments
  • restricts ion channel diffusion at the axonal initial segment before the establishment of the diffusion barrier
  • ANK3-dependent subventricular zone (SVZ) niche assembly is required for the continued production of new neurons
  • involved in neuronal development and signaling
  • plays a role in intellectual functioning
  • role for ANK3 in modulating the biophysical properties of KCNA1, implicated in renal magnesium handling
  • functions as an adaptor to link Nav channels to KIF5B during axonal transport before anchoring them to the axon initial segment (AIS) and nodes of Ranvier
    • CELLULAR PROCESS cell life, differentiation
    PHYSIOLOGICAL PROCESS development , nervous system
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with SCN2A1
  • binds to the cytoplasmic domain of CDH1 at a conserved site distinct from that of CTNNB
  • binds to N-cadherin and probably other type 1 classical cadherins (with cadherin partners thus could direct formation of a variety of specialized membrane domains at sites of cell-cell contact, ranging from synapses in the nervous system to inter-calated discs in cardiomyocytes)
  • SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A
  • Cyclic nucleotide–gated (CNG) channels
  • SPTBN4 is recruited to axon initial segments and nodes of Ranvier by ANK3
  • ANK3 expression is controlled by FOXJ1, a transcriptional regulator of multicilia formation
  • CD44 of control chondrocytes was found to interact and co-immunoprecipitate with both the 65- and 130-kDa isoforms of ANK3
  • ANK3 was identified as a binding partner of KCNA1 and was enriched in isolated distal convoluted tubules as compared to whole kidney
  • KIF5B directly binds to ankyrin-G (ANK3) to transport Nav channels into axons
  • constitutive binding of SCN10A with ANK3 could contribute to the pathological aspects of illnesses where SCN10A is ectopically expressed in CNS neurons
  • CK2-regulated IQJC-SCHIP-1 association with ANKG contributes to axon initial segment (AIS) maintenance
  • PRICKLE2 regulates ANK3 distribution by controlling the proper localization of IGSF9B
    • cell & other
  • intermediate filament associated protein (IFAP, type III)
    • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in a consanguineous family with moderate intellectual disability (ID), an ADHD-like phenotype and behavioral problems
    Susceptibility
  • to bipolar disorder (BD)
  • to late-onset Alzheimer's disease
  • to Autism spectrum disorders (ASDs)
    • Variant & Polymorphism SNP
  • increasing the risk of late-onset Alzheimer's disease
  • susceptibility gene specific to BD
  • association between ANK3 mutations and ASD susceptibility
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS