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FLASH GENE
Symbol TBPL1 contributors: mct - updated : 21-11-2018
HGNC name TBP-like 1
HGNC id 11589
Location 6q23.2      Physical location : 134.274.300 - 134.308.627
Synonym name
  • TBP related factor 2
  • TATA box protein (TBP)-like 1
  • 21-kDA TBP-like protein
  • second TBP of unique DNA
  • TATA box-binding protein-related factor 2
  • telomeric repeat binding factor 2
  • Synonym symbol(s) TLP, STUD, TRF2, TLF, MGC:8389, MGC:9620
    DNA
    TYPE functioning gene
    STRUCTURE 34.33 kb     7 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
    7 - 1340 20.9 186 - 1999 10082669
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon lowly
     liver    
    Nervousbrain   highly
    Reproductivemale systemtestis  highly
     male systemprostate   
    Respiratorylung   highly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to murine Tbpl1
    homolog to Drosophila Trf2
    Homologene
    FAMILY
  • TBP family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    text
  • localized in the cytoplasm and is translocated to the nucleus by DNA-damaging agents
  • basic FUNCTION
  • serving the same function as TBP
  • substituting for TBP at some promoters that are not recognized by TFIID
  • believed to be important in expression of developmentally regulated genes
  • may be involved in genotoxin-induced transcriptional regulation
  • essential for progression in spermiogenesis and for the structuring of the chromocenter, an heterochromatic structure unique of round spermatids
  • telomere-binding protein with roles in telomere protection and telomere-length regulation
  • essential for progression in spermiogenesis and for the structuring of the chromocenter, an heterochromatic structure unique of round spermatids
  • plays a central role in the protection of chromosome ends by inhibiting telomeres from initiating a DNA damage cascade
  • inhibits likely myogenesis through downregulation of MYOG
  • TBPL1 and TAF9 regulate fatty acid composition of several classes of phospholipids
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    text
  • transcription co-activator
  • Spermiogenesis
  • PATHWAY
    metabolism
    signaling
    a component
  • component of the RNA polymerase II (POLR*), transcription apparatus, binding GTF2A, GTF2B, not binding directly canonical TATA boxes
  • form a complex with transcription factor IIA (GTF2A1)
  • INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • binding to TFIIA and TFIIB
  • binding to GTF2A and GTF2B
  • SPATA24 interacting protein in testis
  • TBPL1 represses the promoter activity of MYOG and the proximal AT-rich sequence of the MYOG promoter is responsible for TBPL1-mediated transcriptional repression
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    increased expression is a potent oncogenic event that along with telomerase deficiency accelerates carcinogenesis, coincidental with a derepression of telomere recombination
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Tlf -/- mice