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FLASH GENE
Symbol TFB1M contributors: mct - updated : 10-10-2013
HGNC name transcription factor B1, mitochondrial
HGNC id 17037
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 - 5916 - 1701 - 2004 15110318
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticspleen    
Cardiovascularheart    
Urinarybladder   highly
 kidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
Lymphoid    
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
CATEGORY transcription factor
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,mitochondria
basic FUNCTION
  • acting both as a transcription factor and an rRNA-modification enzyme
  • nuclear-encoded modifier gene for phenotypic expression of the A1555G mutation, and the effect may occur through a regulatory or splicing mutation
  • potential role for TFB1M, TFB2M in the regulation of exercise-induced mitochondrial biogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • GABPA regulates TFB1M expression and plays an essential, nonredundant role in mitochondrial biogenesis
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to type 2 diabetes (T2D)
    Variant & Polymorphism other
  • SNP identifying TFB1M as a modifier gene for hearing loss associated with the homoplasmic A1555G mutation in the mitochondrial 12S rRNA gene
  • common variant (rs950994) associated with reduced insulin secretion, elevated postprandial glucose levels, and future risk of T2D
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • transgenic-mtTFB1 mice exhibit enhanced 12S rRNA methylation in multiple tissues, increased E2f1 and apoptosis in the stria vascularis and spiral ganglion neurons of the inner ear, and progressive E2f1-dependent hearing loss