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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
Corresponding disease
NEM6 nemaline myopathy 6
Location 15q22.31      Physical location : 65.369.153 - 65.372.276
Synonym name kelch repeat and BTB domain-containing protein 13
Synonym symbol(s) hCG_1645727, HCG1645727, NEM6
DNA
TYPE functioning gene
STRUCTURE 3.12 kb     1 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
1 - 3123 49 458 - 2010 21109227
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