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FLASH GENE
Symbol KANK1 contributors: mct/npt - updated : 19-12-2009
HGNC name KN motif and ankyrin repeat domains 1
HGNC id 19309
Corresponding disease
FCPAL familial congenital cerebral palsy
Location 9p24.3      Physical location : 504.702 - 746.103
Synonym name
  • ankyrin 3 long form
  • kidney ankyrin repeat-containing protein
  • ankyrin repeat domain 15
  • Synonym symbol(s) KIAA0172, KANK, ANKRD15, DKFZp451G231, MGC43128
    DNA
    TYPE functioning gene
    STRUCTURE 241.40 kb     12 Exon(s)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    text two alternatively spliced transcript variants encoding the same isoform
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 splicing 5263 - 1194 in kidney cancer cell Sarkar, Zhu (2008)
    also called KANKS
    12 splicing 5083 - 1352 - Sarkar, Wang, Zhu (2008)
  • also called KANKL
  • having an additional N-terminal sequence 158 amino acids long
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Respiratoryrespiratory tractlarynx  highly
    Skin/Tegumentskin   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    IMPRINTING maternally
    text in familial cerebral palsy
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • conserved motif at the N-terminal (KN motif) containing potential motifs for nuclear localization and export signals (Zhu 2008)
  • four ankyrin repeat domains in its C-terminus
  • an ankyrin-repeat domain interacts with the third and fourth coiled-coil domains of KIF21A (Kakinuma 2009)
  • HOMOLOGY
    Homologene
    FAMILY
  • Kank family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    text predominantly occurring in the cytosolic fraction, while KIF21A slightly enhanced the translocation of KANK1 to the membrane fraction (Kakinuma 2009)
    basic FUNCTION
  • ankyrin repeat domain-containing protein which regulates actin polymerization
  • suggesting a role in tumorigenesis of renal cell carcinoma
  • all of these family proteins have an identical role in the formation of actin stress fibers (Zhu 2008)
  • inhibited the activation of RhoA through PI3K/Akt/14-3-3 signaling (Kakinuma 2009)
  • negatively regulates the formation of lamellipodia by inhibiting the interaction between Rac1 and BAIAP2) (Roy 2009)
  • effects of ARFGEF1 and KANK1 proteins on cell polarity and directed migration during wound healing
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction with KIF21A (Kakinuma 2009)
  • KANK1 has multiple actions in cells and also interacts with KIF21A
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FCPAL
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target could be a therapeutic target in FEOM1 (Kakinuma 2009)
    ANIMAL & CELL MODELS