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FLASH GENE
Symbol AKAP9 contributors: mct/pgu - updated : 18-08-2011
HGNC name a kinase (PRKA) anchor protein (yotiao) 9
HGNC id 379
Corresponding disease
LQT11 long QT syndrome with ventricular tachyarrhythmia, type 11
Location 7q21.2      Physical location : 91.570.188 - 91.739.986
Synonym name
  • centrosome and Golgi-localized PKN associated protein
  • AKAP9-BRAF fusion protein
  • kinase N-associated protein
  • AKAP 120-like protein
  • Synonym symbol(s) AKAP450, YOTIAO, KIAA0803, AKAP350, AKAP129, CG-NAP, HYPERION, PRKA9, MU-RMS-40.16A
    DNA
    TYPE functioning gene
    STRUCTURE 169.80 kb     50 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    Physical map
    STEAP2 7q21 six transmembrane epithelial antigen of prostate 2 FLJ21062 7q21.2 hypothetical protein FLJ21062 LOC85865 7q21.2 hypothetical protein BC004923 CLDN12 7q21 claudin 12 PFTK1 7q21-q13 PFTAIRE protein kinase 1 FZD1 7q21 frizzled homolog 1 (Drosophila) LOC389531 7 LOC389531 MTERF 7q21-q22 LOC389531 AKAP9 7q21-q22 a kinase (PRKA) anchor protein (yotiao) 9 CYP51A1 7q21.2-q21.3 cytochrome P450, family 51, subfamily A, polypeptide 1 LOC389532 7 similar to hypothetical protein 4932412H11 CCM1 7q21-q22 cerebral cavernous malformations 1 LOC392070 7 similar to RIKEN cDNA 4930500J03 LOC392071 7 similar to RIKEN cDNA 2810014D17 ODAG 7q21-q22 ocular development-associated gene PEX1 7q21-q22 peroxisome biogenesis factor 1 DKFZP564O0523 7q21.3 hypothetical protein DKFZp564O0523 MGC16142 7q21.3 hypothetical protein MGC16142 LOC392072 7 similar to hypothetical protein FLJ11767 MGC40405 7q21.3 hypothetical protein MGC40405 CDK6 7q21-q22 cyclin-dependent kinase 6 FLJ20073 7q21.3 FLJ20073 protein FLJ39885 7q21.3 hypothetical protein FLJ39885 LOC253012 7q21.3 hypothetical protein LOC253012 FLJ20097 7q21.3 hypothetical protein FLJ20097 CALCR 7q21.3 calcitonin receptor
    RNA
    TRANSCRIPTS type messenger
    text at least four transcripts
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    50 - 12474 450 3911 - 2007 18093912
    50 - 12439 - 3899 - 2007 18093912
    multiple coding difference compared to variant 1
    50 - 12463 - 3907 - 2007 18093912
    multiple coding differences compared to variant 1
    19 - 6058 - 1655 - 2007 18093912
    containing mostly the 5' exons
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas    
    Nervousbrainhindbraincerebellum  
     brainforebraincerebral cortex  
    Reproductivefemale systembreastmammary gland highly
    Respiratoryrespiratory tractlarynx  highly
     respiratory tracttrachea  highly
    Urinarybladder   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularexocrine 
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an amphipathic helix binding domain
  • a LIZ domain
  • two sets of putative RII (regulatory subunit of protein kinase A) binding motif
  • two KCNQ1 binding domains
  • HOMOLOGY
    Homologene
    FAMILY
  • AKAP family
  • CATEGORY chaperone/stress , regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    text
  • specifically concentrated at the neuromuscular junction in skeletal muscle
  • localizes both at the Golgi and at the centrosome
  • basic FUNCTION
  • A kinase PRKA regulatory subunit (RIIA) anchor protein tethering enzymes near their physiological substrate
  • scaffolding at the centrosome and the Golgi apparatus a number of protein kinases such as CSKN1D, CSKN1E, PKN1, PRKAR2A, PRKAR2B,PRKCE and phosphatases such as PPP1CA, PPP2RA, PPP2R1B NMDA receptor GRIN1
  • recruited to the LAF-1 associated molecular complex (ITGAL), critical for polarization and migration of T cells
  • promoting the association of neuronal ITPR1 to the NR1 NMDA receptor GRIN1
  • important players in the nucleation of microtubules at the Golgi apparatus (
  • has a role in cell migration rather than in cell polarisation of the centrosome/Golgi apparatus (
  • key roles in the organization and activation of receptor molecules at the immune synapse during T-cell signaling events
  • facilitates the microtubule polymerization rate in endothelial cells
  • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism
    signaling neurotransmission , signal transduction
    a component
  • complexing with kendrin (PCNT) and associating with TUBG1 and TUBG2
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to a leucine zipper motif of KCNQ1 (for sympathetic nervous system (SNS) regulation of cardiac action potential duration (APD), mediated by alpha-adrenergic receptor activation)
  • binding and potentially involved in cytoskeletal attachment of NMDA receptor GRIN1
  • attaching protein type I protein phosphatase and cAMP dependent PRKA to the NMDA receptor GRIN1
  • TSNAX
  • binding to CIP4 (TRIP10) and to FNBP1, influencing the maintenance of Golgi apparatus
  • binding to ion channel CLIC1 at the Golgi apparatus
  • responsible for the sequestration of TACC4 at centrosome during interphase
  • interacting with GOLGA2 (recruitment of AKAP9 on the Golgi membranes through GOLGA2 allows centrosome-associated nucleating activity to extend to the Golgi, to control the assembly of subsets of microtubules ensuring specific functions within the Golgi or for transporting specific cargos to the cell periphery) (
  • microtubule dependent association of AKAP9 and CCAR1 with RNA stress granules
  • interaction with RAPGEF3 (required for RAPGEF3-stimulated microtubule growth)
  • GOLGA2 binding to the A-kinase anchoring protein AKAP9 participates in the regulation of microtubule nucleation on cis-Golgi membranes
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LQT11
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   translocation    
    AKAP9-BRAF fusion promoting MAPK pathway activation in radiation induced thyroid cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS