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FLASH GENE
Symbol GFI1 contributors: mct/npt/pgu - updated : 15-11-2018
HGNC name growth factor independent 1 transcription repressor
HGNC id 4237
Corresponding disease
SCNP5 neutropenia, severe congenital, 5
Location 1p22.1      Physical location : 92.940.318 - 92.952.433
Synonym name
  • SNAG-domain containing zinc-finger transcriptional repressor
  • growth factor independent 1
  • zinc finger protein 163
  • zinc finger protein Gfi-1
    • Synonym symbol(s) ZNF163, FLJ94509
    DNA
    TYPE functioning gene
    STRUCTURE 11.31 kb     7 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure
  • GC-rich, several SP1 sites
  • 6 exons coding
    • MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    text Variants 1, 2 and 3 encode the same protein
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 2802 45.2 422 - 2009 19164764
    - - 2716 45.2 422 - 2009 19164764
    - - 2709 45.2 422 - 2009 19164764
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine   
    Lymphoid/Immunethymus    
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebone   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticprogenitor cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • six C2H2-type zinc fingers
  • a gly/ala-rich region may indicate that it is a repressor of its target genes
  • a SNAG-transcriptional repressor domain (comprised of a highly conserved 21-AAs sequence, present in a variety of proto-oncogenic transcription factors), repressed by JUB
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY transcription factor , protooncogene , signaling growth factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • transcriptional repressor involved in a common pathway with ELA2 in myeloid differentiation
  • promoting the proliferation of T-cells
  • transcriptional repressor essential for the function and development of many different hematopoietic lineage
  • essential to restrict hematopoietic stem cells (HSC)proliferation and to preserve HSC functional integrity
  • nuclear zinc finger (ZF) transcriptional repressor that plays an important role in hematopoiesis and inner ear development
  • may play a role in the regulation of cellular response to TGFbeta through its interaction with ZBTB17 (repression of CDKN2B, and probably also other ZBTB17 target genes involved in the negative regulation of cell cycle progression, may contribute to the role of GFI1 in tumorigenesis
  • plays a role in mediating specific granule deficiency (SGD) in a patient lacking a gene-inactivating mutation in CEBPE gene
  • is important in myeloid and lymphoid differentiation
  • plays a critical role in the prevention of spontaneous lupus autoimmunity by negatively regulating TLR7 signaling
  • GFI1 and ZC3H12C orchestrate a negative feedback loop that inhibits NFKB1 activation during inflammation in macrophages
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • with ELA2
  • target of POU4F3(effector of POU3F4 for hair cell differentiation and survival)
  • interacts with ZBTB17 and, via ZBTB17, is recruited to the core promoter of CDKN2B
  • GABPA is required for myeloid differentiation due, in part, to its regulation of the tran-scriptional repressor GFI1
  • 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
  • GFI1 and GFI1B are direct targets of RUNX1 and critical regulators of endothelial to hematopoietic transition (EHT)
  • MYSM1 directly associates with the GFI1 enhancer element and promotes its transcription through GATA2 and RUNX1 transactivation
    • cell & other
    REGULATION
    Other independent from IL2 for growth
    in granulocytes, rapidly degraded by the proteasome, while it is more stable in monocytes
    ASSOCIATED DISORDERS
    corresponding disease(s) SCNP5
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   translocation    
    in neuroblastoma
    Susceptibility to hearing loss
    Variant & Polymorphism other
    Candidate gene frequent target of proviral insertion in T and B cell lymphomas
    Marker
    Therapy target
    ANIMAL & CELL MODELS