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FLASH GENE
Symbol KCTD13 contributors: mct - updated : 19-05-2015
HGNC name potassium channel tetramerisation domain containing 13
HGNC id 22234
Location 16p11.2      Physical location : 29.917.662 - 29.937.545
Synonym name
  • TNFAIP1-like
  • polymerase delta-interacting protein 1
  • BTB/POZ domain-containing protein KCTD13
  • BTB/POZ domain-containing Adaptor for CUL3-mediated RHOA Degradation family member 1
  • Synonym symbol(s) PDIP1, FKSG86, POLDIP1, PP6832, BACURD1, hBACURD1
    DNA
    TYPE functioning gene
    STRUCTURE 19.90 kb     6 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 1745 - 329 - 2005 15726626
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Nervousbrain    
    Reproductivefemale systemovary   
     female systembreastmammary gland  
     male systemtestis   
    Urinarykidney   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • BTB/POZ domain
  • PCNA-binding motif at the C terminus
  • mono polymer dimer
    HOMOLOGY
    interspecies homolog to murine Kctd13
    Homologene
    FAMILY
    CATEGORY transport
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • may be having voltage-gated potassium channel, protein binding activities
  • providing a link between cytokine activation and DNA replication in liver as well as in other tissues
  • key driver of the mirrored neuroanatomical phenotypes of the 16p11.2 CNV, and ciliopathy-associated genes
  • KCTD13 and TNFAIP1 are interacting partners to RND proteins which influence the development of cortical neurons
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting directly with the proliferating cell nuclear antigen(PCNA)
  • is an ubiquitin ligase that targets RHOA, offering a possible mechanistic link
  • BTB domain protein known to bind to the DNA replication and repair factor PCNA as a novel MYBL2 interaction partner
  • is able to interact with MYBL2 and PCNA simultaneously
  • KCTD13 and TNFAIP1 are interacting partners to RND proteins which influence the development of cortical neurons
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    can induce a microcephalic phenotype with concomitant reduction of neurogenesis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS