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FLASH GENE
Symbol TFB1M contributors: mct - updated : 10-10-2013
HGNC name transcription factor B1, mitochondrial
HGNC id 17037
Location 6q25.3      Physical location : 155.578.790 - 155.635.626
Synonym name
  • dimethyladenosine transferase 1, mitochondrial
  • homolog of yeast mitochondrial transcription factor
  • mitochondrial dimethyladenosine transferase 1 mitochondrial 12S rRNA dimethylase 1
  • mitochondrial dimethyladenosine transferase 1
    • Synonym symbol(s) CGI75, mtTFB, CGI-75, mtTFB1
    EC.number 2.1.1.-
    DNA
    TYPE functioning gene
    STRUCTURE 61.14 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    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