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FLASH GENE
Symbol AKAP6 contributors: mct - updated : 21-11-2018
HGNC name a kinase (PRKA) anchor protein 6
HGNC id 376
Corresponding disease
DEL14QP chromosome 14q proximal deletion
Location 14q13.1      Physical location : 32.798.478 - 33.302.267
Synonym name
  • a kinase anchor protein AKAP100
  • protein kinase A anchoring protein 6
  • Synonym symbol(s) ADAP100, KIAA0311, AKAP100, MAKAP, ADAP6, PRKA6, MGC165020
    DNA
    TYPE functioning gene
    STRUCTURE 503.75 kb     14 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure
  • MYOG binds to an E-box site on the AKAP6 promoter
  • MAPPING cloned Y linked N status confirmed
    Map cen - D14S1060 - AKAP6 - D14S70 - qter
    Authors GeneMap (98)
    Physical map
    UBE2CP1 14 ubiquitin-conjugating enzyme E2C pseudogene 1 RPL12P5 14 ribosomal protein L12 pseudogene 5 RPL27P1 14 ribosomal protein L27 pseudogene 1 COCH 14q12-q13 coagulation factor C homolog, cochlin (Limulus polyphemus) STRN3 14q13-q21 striatin, calmodulin binding protein 3 AP4S1 14q12 adaptor-related protein complex 4, sigma 1 subunit HECTD1 14q12 HECT domain containing 1 NARSP 14 asparaginyl-tRNA synthetase pseudogene C14orf125 14 chromosome 14 open reading frame 125 ATP5GP4 14q12 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) pseudogene 4 LOC387979 14 similar to RIKEN cDNA D930036F22 gene LOC387980 14 LOC387980 C14orf126 14 chromosome 14 open reading frame 126 GPR33 14q12 G protein-coupled receptor 33, pseudogene C14orf127 14 chromosome 14 open reading frame 127 LOC387981 14 LOC387981 C14orf128 14 chromosome 14 open reading frame 128 ARHGAP5 14q11-q12 Rho GTPase activating protein 5 AKAP6 14q11.2-q13.1 a kinase (PRKA) anchor protein 6 MTCO1P2 14 cytochrome c oxidase pseudogene 2 NPAS3 14q12-q13 neuronal PAS domain protein 3
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 10411 256.6 2319 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestivepharynx   moderately
    Endocrinethyroid   highly
    Nervousbrain   highly
     nerve   predominantly
    Reproductivemale systemtestis  moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac highly
    Muscularstriatumskeletal highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two spectrin repeats
  • a C-terminal RII-alpha binding site
  • secondary structure an amphipathic helix binding domain
    HOMOLOGY
    interspecies homolog to rattus Akap6 (80 pc)
    homolog to murine Akap6 (81.5 pc)
    Homologene
    FAMILY
    CATEGORY adaptor , chaperone/stress
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,nucleus
    intracellular,nuclear envelope
    text sarcoplasmic reticulum
    basic FUNCTION
  • a kinase (PRKA regulatory subunit RIIA), anchor protein tethering the enzyme near its physiological substrate
  • AKAP6 is an important regulator of myoblast differentiation, myotube formation, and muscle regeneration
  • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • anchoring/targeting type II regulatory subunits of protein kinase A to the nuclear membrane or sarcoplasmic reticulum
  • may act as an adapter for assembling multiprotein complexes
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with type II regulatory subunits of protein kinase A (RII subunit of PKA)
  • interacting with phosphatase 2B (calcineurin)
  • interacting with AKAP79
  • AKAP6 promotes MYOG expression through myocyte enhancer factor 2A (MEF2A)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL14QP
    Susceptibility
    Variant & Polymorphism
    Candidate gene cardiac abnormalities
    Marker
    Therapy target
    ANIMAL & CELL MODELS