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FLASH GENE
Symbol KBTBD13 contributors: mct - updated : 15-03-2016
HGNC name kelch repeat and BTB (POZ) domain containing 13
HGNC id 37227
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumcardiac   Homo sapiens
Muscularstriatumskeletal   Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal 68-AA BTB/POZ domain (BTB for Bric-a-brac, Tramtrack, Broad-complex; and POZ for Poxvirus and Zinc-finger)
  • a central alpha-helical linker region
  • C-terminal five Kelch repeats domain
    • HOMOLOGY
    Homologene
    FAMILY
  • BTB/Kelch family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton
    text is a cytoplasmic protein that co-localizes with ubiquitin
    basic FUNCTION
  • likely to have a significant though as-yet-unknown role in muscle structure and/or function
  • participates in the formation of a CUL3 based RING ubiquitin ligase (CUL3-RL) capable of ubiquitin conjugation
  • is a putative adaptor for CUL3-RL and raise the possible involvement of the ubiquitin–proteasome machinery in the pathogenesis of NEM
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • is able to form a complex with CUL3 and RBX1 to reconstitute a functional ubiquitin ligase capable of conjugating ubiquitin onto KBTBD13
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with Cullin 3 (CUL3) and the BTB domain mediates this interaction
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NEM6
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS