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FLASH GENE
Symbol KCNH1 contributors: mct - updated : 05-03-2015
HGNC name potassium voltage-gated channel, subfamily H (eag-related), member 1
HGNC id 6250
Corresponding disease
TMBTS Temple-Baraitser syndrome
ZLS1 Zimmermann-Laband syndrome 1
Location 1q32.2      Physical location : 210.851.656 - 211.307.457
Genatlas name ether-a-go-go potassium channel 1
Synonym name
  • ether-a-go-go, Drosophila, homolog of
  • voltage-gated potassium channel subunit Kv10.1
  • Synonym symbol(s) EAG, EAG1, h-eag, Kv10.1
    DNA
    TYPE functioning gene
    STRUCTURE 455.80 kb     11 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 8025 - 962 - 2017 28259991
    11 - 8006 - 989 - 2017 28259991
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainlimbic system  highly Rattus norvegicus
     brainmidbrainsubstantia nigra highly Rattus norvegicus
    Reproductivemale systemtestis   
    cell lineage myoblasts at the onset of fusion
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • cytosolic N terminus domain, highly conserved, controlling desactivation by association with K+ channel,
  • six membrane spanning domains with an hydrophobic pore flanked by TM domains 5 and 6
  • arginine-rich fourth TM domain controling voltage dependent gating,
  • one cyclic nucleotide-binding domain
  • one PAS (per-arnt-sim) dimerization domain.
  • one PAS-associated c-terminal (PAC) domain
  • C-terminal region containing a cyclic-nucleotide-binding homology domain (CNBHD), and C-linker that couples the CNBHD to the pore
  • and a large intracellular carboxy-terminal region that shares structural similarity with cyclic nucleotide-binding homology domains (CNBHD
    HOMOLOGY
    Homologene
    FAMILY
  • Drosophila ether-a-go-go (eag)-related subfamily H
  • Kv10 family of voltage-gated potassium channels
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endosome
    intracellular,nucleus
    intracellular,nuclear envelope,int
    text
  • RABEP1, KCNH1 co-localize on large early endosomes induced by RAB5 hyperactivity
  • expressed at the inner nuclear membrane
  • basic FUNCTION
  • pore-forming (alpha) subunit of voltage-gated non- inactivating delayed rectifier potassium channel
  • implicated in neuronal signaling as well as in cancer cell proliferation
  • might participate potentially in the homeostasis of nuclear K(+), or indirectly interact with heterochromatin, both factors known to affect gene expression
  • its channel activity is regulated by EGFR kinase at the tyrosine residues Tyr90, Try344, and Try485, effect likely involved in regulating neuronal activity and/or tumor growth
  • participates in cancer initiation and tumor progression
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • S100B is a potential alternative calcium sensor for KCNH1 potassium channel
  • physical and functional interaction between CTTN and KCNH1 (controls the abundance of KCNH1 at the plasma membrane and is required for functional expression of KCNH1 channels)
  • should be considered as a possible target for the physiological effects of flavonoids
  • cell & other
    REGULATION
    Other under strong negative control by the intracellular Ca2+ concentration ([Ca2+]i)
    ASSOCIATED DISORDERS
    corresponding disease(s) ZLS1 , TMBTS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in colonic cancer cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • may represent a promising candidate as tumor marker
  • Therapy target
    SystemTypeDisorderPubmed
    cancerhead and neck 
    membrane therapeutic target forhead and neck cancer treatment
    ANIMAL & CELL MODELS
  • Kv10.1 null mice display mild hyperactivity and longer-lasting haloperidol-induced catalepsy