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FLASH GENE
Symbol AHNAK contributors: mct - updated : 28-06-2016
HGNC name AHNAK nucleoprotein
HGNC id 347
Location 11q12.3      Physical location : 62.201.015 - 62.314.332
Synonym name
  • AHNAK-related
  • desmoyokin
  • neuroblast differentiation-associated protein AHNAK
  • AHNAK-related
  • Synonym symbol(s) AHNAKRS, PM227, MGC5395, AHNAK1
    DNA
    TYPE functioning gene
    STRUCTURE 113.32 kb     6 Exon(s)
    MAPPING cloned Y linked N status confirmed
    Map see CD6 , VMD2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 18815 629 5890 - 2006 16984913
    6 - 1108 - 149 - 2006 16984913
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth   highly
    Nervousbrain     Homo sapiens
    Respiratoryrespiratory tracttrachea  highly
     respiratory tractlarynx  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    Muscularstriatumcardiac  
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/ImmuneT cell
    Muscularmyocyte
    NervousSchawnn cell Homo sapiens
    cell lineage several cell lineages
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal 251 amino acids
  • the large central region of about 4300 amino acids with up of conserved domains repeated 36 times
  • binding motif specific for the Annexin2/S100A10 tetramer (A2tBP1)
  • C-terminal 1002 AAs, exerting a stabilizing effect on muscle contractility, via its interaction with actin of thin filaments, and binding to dysferlin by glutathione S-transferase ;
  • proximal C-terminus acts as repressor in basal conditions by masking CACNB2 functionality and this effect could be relieved by PKA phosphorylation of the interaction partners
    conjugated RiboP
    HOMOLOGY
    interspecies homolog to desmosomal plaque protein (desmoyokin) in bovine
    Homologene
    FAMILY
    CATEGORY chaperone/stress , regulatory , structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,cytoplasm,cytoskeleton
    intracellular,nucleus
    text
  • sarcolemma includng the T-tubular system and the intercaled disks of cardiomyocytes
  • in normal skeletal muscle, dysferlin and AHNAK colocalize at the sarcolemmal membrane and T-tubules
  • basic FUNCTION
  • involved in several signal transduction pathways
  • playing a regulatory role of the actin-bound cytoskeleton to the l-type Ca2+ channel
  • involved in regulating excitation/contraction coupling of cardiomyocytes
  • may be required for neuronal cell differentiation
  • potentiating protein kinase C activation through inhibiting the interaction of PKC with PPP2R4
  • playing an important role in the formation of cytoskeletal structure, calcium homeostasis, and muscle regeneration
  • acting as a molecular scaffold networking between L-type calcium channel and kinase/phosphatase
  • playing a role in dysferlin membrane repair process
  • scaffold protein, highly expressed by CD4+ T cells, and critical component for calcium signaling
  • plays an essential role in T cell Ca2+ signaling through CACNA1S channels, triggered via TCR activation
  • involved with calcium signaling through protein–protein interactions
  • having a critical function during CTL response, which normally is required to fight cancer or viral infections
  • abnormally localizes in muscular dystrophies and contributes to muscle vesicle release
  • mediates a negative regulation of cell growth and acts as novel tumor suppressor through potentiation of TGFB1 signaling
  • by interfering in the cross-talk between the transmembrane form of the laminin receptor dystroglycan and F-actin, AHNAK influences the cytoskeleton organization of Schwann cells (SCs), and thus plays a role in the regulation of their morphology and motility and lastly, the myelination process
  • AHNAK might be involved in modulating the differentiation of newly generated cells into neuronal or non-neuronal cells
  • role for AHNAK in cell fate determination during development, suggestng that manipulation of AHNAK and the associated signaling pathway may provide a means to regulate induced pluripotent stem cells (iPSC) generation
  • regulates likely adipogenesis by regulating SMAD1-dependent PPARG expression
  • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    text neurogenesis
    PATHWAY
    metabolism energetic
    signaling
    a component
  • component of the dysferlin protein complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding of S100A10 through its C-terminal domain
  • with regulatory beta 2 subunit of the cardiac l-type Ca2+ channel
  • interacts with dysferlin
  • G actin
  • phosphorylation of Ser-296 CACNB2 affects AHNAK interaction in a complex manner and is a leading candidate for optional PKA-mediated modulation of L-type Ca2+ channel activity in the heart
  • plays an important scaffolding function connecting ERK and RAC1 activation in PDGF-dependent migration of aortic smooth muscle cells (ASMCs)
  • SMAD3 interacts with AHNAK through MH2 domain and AHNAK stimulates SMAD3 localization into nucleus leading to potentiating TGFB1-induced transcriptional activity of R-SMAD
  • interacts with DAG1 and controls motility and mechanical properties of Schwann cells
  • AHNAK is required for the expression of functional CDH1
  • cell & other
    REGULATION
    repressed by repressed in neuroblastoma
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    resulted in a reduced calcium influx upon TCR crosslinking and subsequent poor activation of the transcription factor NFAT
    tumoral     --over  
    highly expressed and plays a key role in cell migration and invasion in mesothelioma
    Susceptibility
    Variant & Polymorphism
    Candidate gene autoantigen in systemic lupus erythematosus(SLE)
    Marker
  • has the potential to be a new marker for detecting mesothelioma
  • Therapy target
    SystemTypeDisorderPubmed
    immunologyinfectious 
    potential target for therapeutic intervention
    ANIMAL & CELL MODELS
  • Ahnak-deficient mice were protected from high-fat diet-induced obesity
  • Ahnak deficiency plays a positive role for hippocampal neurogenesis in adult mice because proliferating cells were increased in Ahnak(-/-) mice and advanced to mature neurons