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FLASH GENE
Symbol BTBD1 contributors: mct/npt - updated : 03/10/2008
HGNC name BTB (POZ) domain containing 1
HGNC id 1120
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Digestivestomach   highly
Respiratoryrespiratory tractlarynx  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone  highly
Muscularstriatumskeletal predominantly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminus with a proline-rich region
  • a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions
  • C-terminus binds topoisomerase I
  • HOMOLOGY
    interspecies ortholog to murine Btbd1
    intraspecies paralog to BTBD1B
    Homologene
    FAMILY
    CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • mediating protein-protein interaction
  • may function as DNA or actin binding protein
  • playing an essential role for myogenic differentiation
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to topoisomerase 1
  • cell & other
    REGULATION
    Other specifically regulated during myogenic and adipogenic differentiation, in relation with TOPO1 expression
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       gain of function
    during myogenesis
    constitutional       loss of function
    in adipogenesis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS