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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
    Physical map
    LAT1-3TM 16p12 LAT1-3TM protein LOC388243 16 similar to carbonic anhydrase VA, mitochondrial precursor; carbonic anhydrase V, mitochondrial; carbonic dehydratase SPN 16p11.2 sialophorin (gpL115, leukosialin, CD43) QPRT 16q13 quinolinate phosphoribosyltransferase (nicotinate-nucleotide pyrophosphorylase (carboxylating)) FLJ35681 16p12.1 hypothetical protein FLJ35681 ZG16 16p12.1 zymogen granule protein 16 KIF22 16p11.2 kinesin family member 22 MAZ 16p11.2 MYC-associated zinc finger protein (purine-binding transcription factor) LOC112476 16p12.1 similar to lymphocyte antigen 6 complex, locus G5B; G5b protein; open reading frame 31 MGC4606 16p12.1 hypothetical protein MGC4606 MVP 16p11.2 major vault protein CDIPT 16p12.1 CDP-diacylglycerol--inositol 3-phosphatidyltransferase (phosphatidylinositol synthase) PSK-1 16p12.1 type I transmembrane receptor (seizure-related protein) KCTD13 16p11.2 potassium channel tetramerisation domain containing 13 LOC253982 16p12.1 hypothetical protein LOC253982 LOC124446 16p12.1 hypothetical protein BC017488 PSK 16p12.1 hypothetical protein BC017488 TAO1 16p11.2 hypothetical protein BC017488 HIRIP3 16q13 HIRA interacting protein 3 FLJ90652 16p12.1 hypothetical protein FLJ90652 DOC2A 16q13 double C2-like domains, alpha DKFZP434I2117 16p12.1 hypothetical protein DKFZp434I2117 ALDOA 16q22.2 aldolase A, fructose-bisphosphate PPP4C 16p12-p11 protein phosphatase 4 (formerly X), catalytic subunit TBX6 16p11.2 T-box 6 MGC10500 16p12.1 hypothetical protein MGC10500 MGC4171 16p12.1 hypothetical protein MGC4171 MAPK3 16p11.2 mitogen-activated protein kinase 3 CORO1A 16p11.2-q11.2 coronin, actin binding protein, 1A LOC339088 16p12.1 similar to My016 protein SULT1A3 16p11.2 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3
    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