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FLASH GENE
Symbol KCTD11 contributors: mct/npt - updated : 13-03-2014
HGNC name potassium channel tetramerisation domain containing 11
HGNC id 21302
Location 17p13.2      Physical location : 7.255.207 - 7.258.260
Synonym name
  • chromosome 17 open reading frame 36
  • retinoic acid, EGF, NGF induced gene protein
  • potassium channel tetramerization domain containing 11
  • retinoic acid, EGF, NGF induced gene/potassium channel tetramerization domain containing 11
  • Synonym symbol(s) REN, C17orf36, REN/KCTD11
    DNA
    TYPE functioning gene
    STRUCTURE 3.05 kb     1 Exon(s)
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure
  • a CpG island and several Sp1 binding sites on this promoter, and
  • Sp1 transcription factor and DNA methylation contribute, at least in part, to regulate KCTD11 expression
    MAPPING cloned Y linked N status provisional
    Physical map
    DVL2 17p13.2 dishevelled, dsh homolog 2 (Drosophila) MGC2941 17p13.2 hypothetical protein MGC2941 GABARAP 17p13.1 GABA(A) receptor-associated protein DULLARD 17p13 dullard homolog (Xenopus laevis) DERP6 17p13.2 S-phase 2 protein CLDN7 17p13.1 claudin 7 SLC2A4 17p13.1 solute carrier family 2 (facilitated glucose transporter), member 4 YBX2 17p11.2-p13.1 germ cell specific Y-box binding protein EIF5A 17p13-p12 eukaryotic translation initiation factor 5A GPS2 17p13 G protein pathway suppressor 2 LOC390760 17 similar to RIKEN cDNA 2810408A11 CENTB1 17p13.2 centaurin, beta 1 KCTD11 17p13.2 potassium channel tetramerisation domain containing 11 LOC339168 17p13.2 hypothetical protein LOC339168 TNK1 17p13.1 tyrosine kinase, non-receptor, 1 PLSCR3 17p13.2 phospholipid scramblase 3
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 3081 - 232 - 2011 2123724
  • (sKCTD11), short KCTD11
  • presents an incomplete POZ/BTB domain
  • - - - - 271 - 2011 2123724
  • N-terminal extension of 39 AAs
  • starts with a non-canonical AUU codon
  • presents an complete POZ/BTB domain
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel    
    Digestiveintestinesmall intestine   
     stomach   highly
    Nervousnerve   highly
    Reproductivefemale systemuteruscervix highly
    Respiratoryrespiratory tractlarynx  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousperipherous   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an N-terminal BTB/POZ domain, required for the formation of a Cullin3 ubiquitin ligase complex and HDAC1 ubiquitination and degradation capability
  • several sites for N-myristoylation and phosphorylation
  • HOMOLOGY
    interspecies ortholog to murine Kctd11
    Homologene
    FAMILY potassium channel tetramerization domain (KCTD) family
    CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • voltage-gated potassium channel activity
  • seems to inhibit medulloblastoma growth by negatively regulating the Hedgehog pathway because it antagonizes the Gli-mediated transactivation of Hedgehog target genes
  • suppressor of Hedgehog signaling and suggests that its inactivation might lead to a deregulation of the tumor-promoting Hedgehog pathway in medulloblastoma
  • histone deacetylase and Cullin3-KCTD11 ubiquitin ligase interplay regulates Hedgehog signalling through GLI acetylation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS active transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • plays a crucial role in the ubiquitination of HDAC1 by acting, in complex with Cullin3, as an E3 ubiquitin ligase
  • KCTD6 is involved in the turnover of the muscle small ankyrin-1 isoform 5 and, in combination with KCTD11, in the ubiquitination and degradation of HDAC1
  • KCTD6(BTB) and KCTD11(BTB) bind CUL3 with high affinity forming stable complexes with 4:4 stoichiometries
  • cell & other
    REGULATION
    induced by retinoic acid
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   deletion    
    in medulloblastoma
    tumoral     --low  
    reduced expression in medulloblastoma
    tumoral   LOH    
    frequently lost in human medulloblastoma (MB), in part by LOH
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS