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FLASH GENE
Symbol KCNC3 contributors: mct - updated : 25-08-2011
HGNC name potassium voltage-gated channel, Shaw-related subfamily, member 3
HGNC id 6235
Corresponding disease
SCA13 spinocerebellar ataxia 13
Location 19q13.3      Physical location : 50.818.764 - 50.832.634
Synonym name voltage-gated potassium channel protein KV3.3
Synonym symbol(s) KSHIIID, KV3.3, SCA13
DNA
TYPE functioning gene
STRUCTURE 13.00 kb     5 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
Physical map
AP2A1 19q13.3 adaptor-related protein complex 2, alpha 1 subunit FLJ22688 19q13.33 hypothetical protein FLJ22688 TCBAP0758 19q13.3 hypothetical protein TCBAP0758 PTOV1 19q13.33 prostate tumor over expressed gene 1 PNKP 19q13.3-q13.4 polynucleotide kinase 3'-phosphatase MGC2865 19q13.33 hypothetical protein MGC2865 FLJ12168 IL4I1 19q13.3-q13.4 interleukin 4 induced 1 NUP62 19q13.33 nucleoporin 62kDa ATF5 19q13.3 activating transcription factor 5 SIGLEC11 19q13.33 sialic acid binding Ig-like lectin 11 VRK3 19q13 vaccinia related kinase 3 ZNF473 19q13.33 zinc finger protein 473 LOC342917 19q13.33 similar to kruppel-related zinc finger protein MGC33947 19q13.33 hypothetical protein MGC33947 MYH14 19q13.33 myosin, heavy polypeptide 14 KCNC3 19q13.3 potassium voltage-gated channel, Shaw-related subfamily, member 3 NAP1L 19q13.33 potassium voltage-gated channel, Shaw-related subfamily, member 3 NAP1 19q13.33 pronapsin A NR1H2 19q13.3 nuclear receptor subfamily 1, group H, member 2 POLD1 19q13.3 polymerase (DNA directed), delta 1, catalytic subunit 125kDa SPIB 19q13.3 Spi-B transcription factor (Spi-1/PU.1 related) MYBPC2 19q13.3 myosin binding protein C, fast type LOC284361 19q13.33-q13.41 hypothetical protein LOC284361 SBBI54 19q13.41 hypothetical transmembrane protein SBBI54 LOC284363 19q13.41 similar to RIKEN cDNA 0610012D14 DKFZp761A179 SYT3 19q13.4 synaptotagmin III LOC342918 19q13.41 hypothetical LOC342918 SHANK1 19q13.3 SH3 and multiple ankyrin repeat domains 1 SCGF 19q13.3 stem cell growth factor; lymphocyte secreted C-type lectin GPR32P 19q13.3 G protein-coupled receptor 32, pseudogene GPR32 19q13.3 G protein-coupled receptor 32 ACPT 19q13.4 acid phosphatase, testicular MGC13170 19q13.41 multidrug resistance-related protein MGC45922 19q13.41 hypothetical gene MGC45922 KLK1 19q13.4 kallikrein 1, renal/pancreas/salivary KLK15 19q13.4 kallikrein 1, renal/pancreas/salivary KLK3 19q13.3 kallikrein 3, (prostate specific antigen)
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrineparathyroid    
Lymphoid/Immunelymph node    
Nervousbraindiencephalonthalamusnucleihighly Homo sapiens
Reproductivefemale systemuterus   
Respiratoryrespiratory tractlarynx   
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervouscentral  highly 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
  • a segment s4 is probably the voltage-sensor and characterized by a series of positively charged amino acids at every third position
  • a tail may be important in modulation of channel activity and/or targeting of the channel to specific subcellular compartments
  • HOMOLOGY
    interspecies homolog to murine Kv3.3
    homolog to Drosophila Shaw-related family
    Homologene
    FAMILY
    CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • mediating the voltage-dependent potassium ion permeability of excitable membranes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component heterotetramer of potassium channel proteins
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    activated by BMP2 that significantly (>2-fold) upregulated mRNA expression of KCNC3
    ASSOCIATED DISORDERS
    corresponding disease(s) SCA13
    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