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FLASH GENE
Symbol KCTD1 contributors: mct/npt/pgu - updated : 25-05-2013
HGNC name potassium channel tetramerisation domain containing 1
HGNC id 18249
Corresponding disease
SENS Scalp-Ear-Nipple Syndrome
Location 18q11.2      Physical location : 24.034.876 - 24.220.308
Synonym name
  • chromosome 18 open reading frame 5
  • BTB/POZ domain-containing protein KCTD1
  • Synonym symbol(s) C18orf5
    DNA
    TYPE functioning gene
    STRUCTURE 202.50 kb     7 Exon(s)
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC390841 18 similar to ubiquitin-conjugating enzyme E2C isoform 2; ubiquitin carrier protein E2-C; ubiquitin-protein ligase C; cyclin-selective ubiquitin carrier protein; mitotic-specific ubiquitin-conjugating enzyme RBBP8 18q11.2 retinoblastoma binding protein 8 LOC91768 MGC11386 18q11.2 hypothetical protein MGC11386 RIOK3 18q11.2 RIO kinase 3 (yeast) C18orf8 18q11.2 chromosome 18 open reading frame 8 NPC1 18q11.1-q11.2 Niemann-Pick disease, type C1 LOC147463 18q11.2 hypothetical protein LOC147463 LOC390842 18 similar to 40S ribosomal protein S10 LAMA3 18q11.2 laminin, alpha 3 FLJ33761 18q11.2 hypothetical protein FLJ33761 CABYR 18q11.1 calcium-binding tyrosine-(Y)-phosphorylation regulated (fibrousheathin 2) OSBPL1A 18q11-q12 oxysterol binding protein-like 1A IMPACT 18q11.2-q12.1 hypothetical protein IMPACT HRH4 18q11.2 histamine receptor H4 LOC390843 18 similar to hypothetical protein BC005868 LOC342741 18q11.2 similar to DEAD (Asp-Glu-Ala-Asp) box polypeptide 48 LOC147468 18q11.2 similar to WW domain binding protein 2 EHZF 18q11.2 early hematopoietic zinc finger SS18 18q11.2 synovial sarcoma translocation, chromosome 18 MGC26605 18q11.2 hypothetical protein MGC26605 TAF4B 18q11.2 TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa KCTD1 18 potassium channel tetramerisation domain containing 1 LOC388472 18 hypothetical gene supported by BC002568 LOC342695 18q12.1 similar to ubiquitin fusion degradation 1-like AQP4 18q11.2.q12.1 aquaporin 4 FLJ30507 18q12.1 hypothetical protein FLJ30507 CHST9 18q11.2 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 LOC342697 18q12.1 similar to Proliferation-associated protein 2G4 (Cell cycle protein p38-2G4 homolog) (hG4-1) CDH2 18q11.2-q12.2 cadherin 2, type 1, N-cadherin (neuronal) LOC390844 18 similar to Ariadne-2 protein homolog (ARI-2) (Triad1 protein) (HT005)
    regionally located colocalizes with TFAP2A
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 2174 29.3 257 - 2008 18358072
    5 - 3438 96.3 865 - 2008 18358072
    6 - 1754 29.3 257 - 2008 18358072
    5 - 1715 - 257 - 2008 18358072
  • also called KCTD 1N
  • complete BTB domain
  • 5 - 1671 - 271 - 2008 18358072
    also called KCTD 1C
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Respiratorylung   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a highly conserved BTB domain in its N terminus (N-terminal broad-complex, tramtrack, and bric-a-brac (BTB) domain) , which can facilitate protein-protein interactions that may be involved in the regulation of signaling pathways
  • a potassium-channel tetramerization domain (KCTD)
  • HOMOLOGY
    Homologene
    FAMILY
  • potassium channel family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    text completely co-localized with TFAP2A in the nuclei of cells
    basic FUNCTION
  • transcriptional repressor mediates homomeric protein-protein interactions
  • plays important roles in controlling the expression of specific genes in breast cancer
  • functioning as a transcriptional repressor and mediating homomeric protein-protein interactions
  • having a function as the transcriptional repressor for AP-2 family, especially for TFAP2A)
  • acting as a potent transcriptional repressor and inhibiting the transcriptional activity via its BTB domain, though KCTD1 transcriptional repression is unaffected by the HDAC inhibitors, trichostatin A, and sodium butyrate
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction with TFAP2A (significantly repressed TFAP2A-mediated transactivation through the BTB domain, and specifically acts as a negative regulator of TFAP2A)
  • interacted with three major members of the AP-2 family and inhibited their transcriptional activities
  • molecular interaction partners of the cellular prion protein (PRNP)
  • interacting with the AP-2alpha family of transcription factors
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SENS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS