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FLASH GENE
Symbol GFI1 contributors: mct/npt/pgu - updated : 18-05-2009
HGNC name growth factor independent 1 transcription repressor
HGNC id 4237
Corresponding disease
SCNP5 severe congenital neutropenia 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
    Physical map
    BM-005 LOC391054 1 similar to ribosomal protein L5; 60S ribosomal protein L5 FLJ36760 1p22.2 FLJ36760 protein LOC284696 1p22.2 similar to flap structure-specific endonuclease 1; maturation factor-1; DNase IV LOC391055 1 similar to hypothetical protein LOC164045 1p22.2 hypothetical protein LOC164045 CDC7 1p22 CDC7 cell division cycle 7 (S. cerevisiae) LOC391056 1 similar to RIKEN cDNA 9430077D24 gene TRAP2 1p22 tumor rejection antigen (gp96) pseudogene 2 TGFBR3 1p33-p32 transforming growth factor, beta receptor III (betaglycan, 300kDa) BRDT 1p21-p22 bromodomain, testis-specific ABHD7 1p22.1 abhydrolase domain containing 7 LOC339526 1p22.1 similar to hypothetical protein FLJ20481 LOC126598 1p22.1 similar to template acyivating factor-I alpha LOC284697 1p22.1 similar to agCP5986 KIAA1107 1p22.1 KIAA1107 protein LOC388649 1 similar to 1700028K03 protein GLMN 1p22.1 glomulin, FKBP associated protein FLJ13150 1p22.1 hypothetical protein FLJ13150 GFI1 1p22 growth factor independent 1 EVI5 1p22 ecotropic viral integration site 5 RPL5 1p22.1-p21.3 ribosomal protein L5 LOC388650 1 similar to RIKEN cDNA 2900024C23 M96 1p22.1 likely ortholog of mouse metal response element binding transcription factor 2 CGI-100 1pter-q31.3 CGI-100 protein NY-SAR-41 1p22.1 sarcoma antigen NY-SAR-41 DR1 1p22.1 down-regulator of transcription 1, TBP-binding (negative cofactor 2) FLJ20275 BCAR3 1p22.1 breast cancer anti-estrogen resistance 3 LOC388651 1 LOC388651 HSU15552 1p22.1 acidic 82 kDa protein mRNA GCLM 1p22.1 glutamate-cysteine ligase, modifier subunit ABCA4 1p22.1 ATP-binding cassette, sub-family A (ABC1), member 4
    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
  • 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
  • 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