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FLASH GENE
Symbol GFI1B contributors: mct - updated : 20-09-2016
HGNC name growth factor independent 1B transcription repressor
HGNC id 4238
Corresponding disease
BDPLT17 bleeding disorder, platelet-type, 17
Location 9q34.13      Physical location : 135.854.097 - 135.867.083
Synonym name
  • growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)
  • zinc finger protein Gfi-1b
  • potential regulator of CDKN1A translocated in CML
    • Synonym symbol(s) BDPLT17, ZNF163B
    DNA
    TYPE functioning gene
    SPECIAL FEATURE
    text component of the TSC1 locus
    STRUCTURE 12.99 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure
  • congenital mutations at evolutionary conserved GATA and octamer-binding (SLC22A1) transcription factor sites
    • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 1801 37.5 330 - 2010 20124515
  • long isoform necessary for normal megakaryocyte differentiation
    • 6 - 1663 - 284 - 2010 20124515
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Lymphoid    
    cell lineage hematopoietic precursor cells
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text liver
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal transrepressor domain (SNAG for snail-Gfi.1)
  • six C terminal zinc finger motifs of the C2H2 type
    • HOMOLOGY
    interspecies homolog to murine Gfi1b
    Homologene
    FAMILY
    CATEGORY transcription factor , protooncogene , signaling growth factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    intracellular,nuclear envelope,matrix attachement regions
    basic FUNCTION
  • inhibiting IL6-induced cell-cycle arrest and differentiation and repressing CDKN2A
  • playing a role in GATA1-mediated transcription in the survival aspect of erythroid cells
  • acts in the late stage of erythroid differentiation as a transcriptional repressor
  • behaves as a lineage-affiliated gene with an open chromatin configuration in multipotent progenitors and sustained activation as cells progress throughout erythroid differentiation
  • controls its own expression binding to multiple sites
  • transcriptional repressor that is crucial for erythroid differentiation
  • controls the development of erythrocytes and megakaryocytes by regulating the proliferation and differentiation of bipotent erythro-megakaryocytic progenitors
  • zinc finger transcription factor essential for erythroid and megakaryocytic development
  • GFI1 and GFI1B are direct targets of RUNX1 and critical regulators of endothelial to hematopoietic transition (EHT)
  • zinc finger transcription factor essential for development of the erythroid and megakaryocytic lineages
  • is a DNA binding repressor of transcription with vital functions in hematopoiesis
  • is a regulator of embryonic globin expression and embryonic and adult erythroid maturation
  • is a known transcriptional repressor and a key regulator of platelet and red blood cell development
    • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • target of TCF3 that promotes growth arrest and apoptosis in lymphomas
  • HMGB2 is a key regulator of GFI1B transcription
  • HMG2B potentiates GATA1-dependent transcription of GFI1B by POU5F1 and thereby controls erythroid differentiation
  • in primary cells, transcription of GFI1B is inversely correlates with RAG1, RAG2 transcription, and simultaneous inactivation of GFI1 and GFI1B leads to an increase in RAG1, RAG2 transcription early in B cell development
  • MEIS1 is a direct and prominent target of GFI1B (direct yet differential regulation of MEIS1 transcription by GFI1B in distinct hematopoietic lineages)
  • GFI1B stringently represses RGS18 expression in erythroid cells, whereas, during megakaryocytic differentiation, declining GFI1B levels facilitate a robust induction of RGS18
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BDPLT17
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in patients with acute and chronic leukemia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Gfi1b-null embryos die at midgestation very likely due to defects in erythro- and megakaryopoiesis