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FLASH GENE
Symbol KCNC1 contributors: mct - updated : 25-05-2011
HGNC name potassium voltage-gated channel, Shaw-related subfamily, member 1
HGNC id 6233
Location 11p15.3      Physical location : 17.757.494 - 17.804.602
Synonym name
  • shaw-related voltage-gated potassium channel protein 1
  • Synonym symbol(s) NGK2, KV3.1, KV4, MGC129855, FLJ41162, FLJ42249, FLJ43491
    DNA
    TYPE functioning gene
    STRUCTURE 47.10 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Physical map
    SMAP 11p15.2 small acidic protein LOC283278 11p15.2 hypothetical protein LOC283278 LOC144100 11p15.2-p15.1 hypothetical protein LOC144100 LOC390096 11 similar to large subunit ribosomal protein L36a OR7E14P 11p15.1 olfactory receptor, family 7, subfamily E, member 14 pseudogene RPS13 11p15.1 ribosomal protein S13 PIK3C2A 11p15.1 phosphoinositide-3-kinase, class 2, alpha polypeptide LOC91561 11p15.1 similar to ribosomal protein S2; 40S ribosomal protein S2 NUCB2 11p15.1-p14 nucleobindin 2 DKFZp686O24166 11p15.1 hypothetical protein DKFZp686O24166 KCNJ11 11p15.1 potassium inwardly-rectifying channel, subfamily J, member 11 ABCC8 11p15.1 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 LOC387757 11 LOC387757 USH1C 11p14.3 Usher syndrome 1C (autosomal recessive, severe) FLJ21290 11p15.1 hypothetical protein FLJ21290 OTOG 11p14.3 otogelin KCNC1 11p15.3 potassium voltage-gated channel, Shaw-related subfamily, member 1 MYOD1 11p15.1 myogenic factor 3 DELGEF 11p14.3 myogenic factor 3 TPH1 11p15.1-p14.3 tryptophan hydroxylase 1 (tryptophan 5-monooxygenase) LOC113174 11p15.1 hypothetical protein BC012010 SAA3P 11p15.1-p14.3 serum amyloid A3 pseudogene MRGX3 11p15.1 G protein-coupled receptor MRGX3 MRGX4 11p15.1 G protein-coupled receptor MRGX4 SAA4 11p15.1-p14.3 serum amyloid A4, constitutive SAA2 11p15.1-p14.3 serum amyloid A2 FAM10A5 11p15.1 family with sequence similarity 10, member A5 SAA1 11p15.1-p14.3 serum amyloid A1 HPS5 11p14 Hermansky-Pudlak syndrome 5 GTF2H1 11p15.1-p14 general transcription factor IIH, polypeptide 1, 62kDa LDHA 11p15.1-p14.3 lactate dehydrogenase A LDHC 11p15.1-p14.3 lactate dehydrogenase C MGC23940 11p15.1 hypothetical protein MGC23940 TSG101 11p15.2-p15.1 tumor susceptibility gene 101 UEV3 11p15.1 ubiquitin-conjugating enzyme E2-like LOC390097 11 similar to CGI-64 protein FLJ39441 11p15.1 hypothetical protein FLJ39441 FLJ90119 11p15.1 hypothetical protein FLJ90119 FLJ37794 11p15.1 hypothetical protein FLJ37794
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 3134 - 585 - 2007 18094255
    KCNC1a, Kv3.1a
    2 - 6807 - 511 - 2007 18094255
  • KCNC1b, Kv3.1b
  • unique splice domain at Kv3.1b C terminus influences ATM binding to T1 and ankyrin G
  • EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas    
    Nervousbrain     Homo sapiens
     braindiencephalonthalamusnucleihighly Homo sapiens
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral    Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • 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
  • the tail may be important in modulation of channel activity and/or targeting of the channel to specific subcellular compartments
  • HOMOLOGY
    interspecies homolog to murine Kv3.1
    homolog to Drosophila Shaw-related family
    Homologene
    FAMILY potassium channel family, c (shaw) subfamily
    CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • mediating the voltage-dependent potassium ion permeability of excitable membranes
  • in association with OSP/claudin-11, plays a significant role in Oligodendrocyte progenitor cell proliferation and migration and myelination of axons
  • KCNIP3 and KCNC1 channels are expressed and may play a significant role in Müller cell function in the retina
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component heteromultimer with KCNG3, KCNG4 and KCNV2
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction between KCNC1 and KIF5A, KIF5B (binding to KIF5 ensures properly assembled and functioning KCNC1 channels to be transported into axons)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Kv3.1/Kv3.3-deficient mice display severe sleep loss as a result of unstable slow-wave sleep