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FLASH GENE
Symbol KCNA5 contributors: mct - updated : 22-10-2013
HGNC name potassium voltage-gated channel, shaker-related subfamily, member 5
HGNC id 6224
Corresponding disease
ATFB7 atrial fibrillation, familial, 7
Location 12p13.32      Physical location : 5.153.084 - 5.155.948
Synonym name
  • cardiac potassium channel
  • insulinoma and islet potassium channel
  • voltage-gated potassium channel subunit Kv1.5
  • Synonym symbol(s) KV1.5, HK2, HCK1, PCN1, HPCN1, MGC117058, MGC117059, ATFB7
    DNA
    TYPE functioning gene
    STRUCTURE 2.87 kb     1 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map see KCNA1
    Physical map
    MGC4266 12p13.33 hypothetical protein MGC4266 C12orf6 12p13.3 chromosome 12 open reading frame 6 LOC160382 12p13.32 similar to Heat shock cognate 71 kDa protein LOC390281 12 similar to ribosomal protein L18; 60S ribosomal protein L18 CCND2 12p13.32 cyclin D2 C12orf5 12p13.3 chromosome 12 open reading frame 5 FGF23 12p13.3 fibroblast growth factor 23 FGF6 12p13.32 fibroblast growth factor 6 C12orf4 12p13.3 chromosome 12 open reading frame 4 PIR51 12p13.2-p13.1 chromosome 12 open reading frame 4 DYRK4 12p13.3 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 AKAP3 12p13 a kinase (PRKA) anchor protein 3 NDUFA9 12p13.3-p12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa GALNT8 12p13.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) KCNA6 12p13 potassium voltage-gated channel, shaker-related subfamily, member 6 KCNA1 12p13.32 potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) LOC390282 12 similar to eukaryotic translation initiation factor 3, subunit 5 (epsilon) KCNA5 12p13.32-p13.31 potassium voltage-gated channel, shaker-related subfamily, member 5 LOC387826 12 LOC387826 NTF3 12p13.31 neurotrophin 3 TMEM16B 12p13.3 transmembrane protein 16B VWF 12p13.1 von Willebrand factor CD9 12p13.31 CD9 antigen (p24) FLJ10665 12p13.32 hypothetical protein FLJ10665 TNFRSF1A 12p13.2 tumor necrosis factor receptor superfamily, member 1A SCNN1A 12p13.3 sodium channel, nonvoltage-gated 1 alpha LTBR 12p13.31 lymphotoxin beta receptor (TNFR superfamily, member 3) LOC390283 12 hypothetical gene supported by X15940; NM_000993 LOC390284 12 similar to signal recognition particle 14kDa (homologous Alu RNA binding protein); signal recognition particle 14kD (homologous Alu RNA-binding protein); signal recognition particle 14kD (homologous Alu RNA binding protein) TNFRSF7 12p13 tumor necrosis factor receptor superfamily, member 7 TAPBP-R 12p13.31 TAP binding protein related VAMP1 12p13.31-p13.2 vesicle-associated membrane protein 1 (synaptobrevin 1)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 2865 67.1 613 - 1995 8821794
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheartatrium  highly Homo sapiens
     vessel   highly Homo sapiens
    Digestiveintestine   highly Homo sapiens
     liver   highly Homo sapiensFetal
    Endocrinepancreas     Homo sapiens
    Nervousbrain     Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularsmoothmuscularis mucosa (tractus digestif)   Homo sapiens
    Nervouscentral  highly Homo sapiensFetal
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticprogenitor cell Homo sapiensFetal
    Cardiovascularendothelial cell Homo sapiens
    Endocrineislet cell (alpha,beta...) Homo sapiens
    Lymphoid/Immunedendritic cell Homo sapiens
    Lymphoid/Immunemacrophage Homo sapiens
    Muscularmyocyte Homo sapiens
    Reproductivespermatozoa Homo sapiens
    cell lineage
    cell lines insulinoma cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • transmembrane (TM) protein with six putative membrane-spanning domains
  • an hydrophobic pore including the P domain with the K+ channel signature, flanked by TM domains 5 and 6, sensitive to changes in membrane potential
  • mono polymer tetramer , complex
    HOMOLOGY
    interspecies homolog to murine Kv1.5
    homolog to Drosophila shaker-related subfamily
    Homologene
    FAMILY
  • potassium channel family
  • A (Shaker) subfamily
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    text localised on the cytoplasmic droplets and tail of ejaculated spermatozoa
    basic FUNCTION
  • mediating the voltage-dependent potassium ion permeability of excitable membranes
  • play a role in regulating the secretion of insulin in normal pancreatic islets
  • K(+)-channel involved in sperm volume regulation under physiological conditions
  • traffic and localization of KCNA3/KCNA5 heteromers implicated in the complex regulation of immune system cells
  • may play an important role in oxidative vascular endothelial injury
  • participates in the repolarization of a wide variety of cell types
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • tetramer forming a complex through its cytoplasmic segment T1 facing the membrane pore with four beta subunits forming the associated cytoplasmic auxiliary subunits
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • associating with the N terminus region of alpha subunit
  • interaction with ACTN2
  • interacting with CDH2 (modifies KCNA5 activity and is thus a novel candidate signaling molecule participating in the regulation of a variety of functions including cardiac action potential and vascular tone
  • in cardiac myocytes colocalizes with CDH2 (its expression increases following establishment of cell-cell contacts and CDH2 influences the activity of other ion channels)
  • mechanistic link among the cell adhesion molecule, CDH2, the actin-binding scaffold protein, CTTN, and KCNA5 remodeling in the heart
  • FHL1C is a binding partner for KCNA5
  • coexpression of CTNNB1 enhanced KCNA activity by fostering its membrane expression
  • associates with CDH2, caveolin and PSD95/SAP97, as well as with lipid rafts
  • CTNNB1 stimulates KCNA5 and thus participates in the shaping of the cardiac action potential and further KCNA5 sensitive cellular functions
  • cell & other
    REGULATION
    activated by DLG1 (requiring A specific N-terminal residue)
    inhibited by AMPK, that inhibits KCNA5 presumably in part by activation of NEDD4L with subsequent clearance of channel protein from the cell membrane
    Other modulation of its functional expression through Rab GTPases targeting in the cells
    ASSOCIATED DISORDERS
    corresponding disease(s) ATFB7
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in atrial fibrillation
    constitutional germinal mutation      
    in cardiac arrest patients
    Susceptibility to atrial fibrillation
    Variant & Polymorphism other increasing the atrial fibrillation
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS