Gene content    
GFI1B ( by HUGO)
Growth Factor Independent 1B Transcription Repressor
Other
Growth Factor Independent 1B Transcription Repressor
Growth Factor Independent 1B (Potential Regulator Of CDKN1A
Translocated In CML)
Growth Factor Independent Protein 1B
Potential Regulator Of CDKN1A Translocated In CML
BDPLT17
Zinc Finger Protein Gfi-1b
NCBI: 9q34.13    Ensembl: 9q34.13
GFI1B_HUMANSize: 330 amino acidsMass: 37492 Da

  • Subunit: Component of a RCOR-GFI-KDM1A-HDAC complex. Interacts directly with RCOR1, KDM1A and HDAC2 (By similarity). Forms a complex with GATA1. Interacts with histone methyltransferases EHMT2 and SUV39H1. Interacts with ARIH2 (via RING-type 2). Interacts with RUNX1T1
  • Tissue specificity: Expressed in bone marrow and fetal liver, but also detectable in fetal spleen, fetal thymus, and testes. Detected in hematopoietic stem cells, erythroblasts, and megakaryocytes. Overexpressed in bone marrow of patients with erythroleukemia and megakaryocy
  • Function:
    UniProtKB/Swiss-Prot Summary: GFI1B_HUMAN, Q5VTD9 Function: Essential proto-oncogenic transcriptional regulator necessary for development and differentiation of erythroid and megakaryocytic lineages. Component of a RCOR-GFI-KDM1A-HDAC complex that suppresses, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development and controls hematopoietic differentiation. Transcriptional repressor or activator depending on both promoter and cell type context; represses promoter activity of SOCS1 and SOCS3 and thus, may regulate cytokine signaling pathways. Cooperates with GATA1 to repress target gene transcription, such as the apoptosis regulator BCL2L1; GFI1B silencing in leukemic cell lines markedly increase apoptosis rate. Inhibits down-regulation of MYC and MYB as well as the cyclin-dependent kinase inhibitor CDKN1A/P21WAF1 in IL6-treated myelomonocytic cells. Represses expression of GATA3 in T-cell lymphomas and inhibits GATA1-mediated transcription; as GATA1 also mediates erythroid GFI1B transcription, both GATA1 and GFI1B participate in a feedback regulatory pathway controlling the expression of GFI1B gene in erythroid cells. Suppresses GATA1-mediated stimulation of GFI1B promoter through protein interaction. Binds to gamma-satellite DNA and to its own promoter, auto-repressing its own expression. Alters histone methylation by recruiting histone methyltransferase to target genes promoters. Plays a role in heterochromatin formation
  • Similarity:
    Contains 6 C2H2-type zinc fingers [IMAGE]

    • Protein Domain/Family    
    Source ID Domain Name Type
    InterProIPR007087Znf_C2H2Zinc finger, C2H2-typeDomain
    BlocksIPB007086C2H2-type zinc finger signatureC2H2-type zinc finger signature

    Gene Ontology    
    Type Term Evidence Source Pub
    Biological Process cell proliferation TAS GOA 9566867
    negative regulation of transcription from RNA polymerase II promoter TAS GOA 9566867
    transcription from RNA polymerase II promoter TAS GOA 9566867
    Cellular Component nuclear matrix IDA GOA 12874834
    nucleus IDA GOA 12874834
    transcription factor complex IDA GOA 15920471
    Molecular Function protein binding IPI GOA 12874834
    RNA polymerase II transcription factor binding IPI GOA 15920471

    Disorder & Mutation    
    Source Disease
    SWISS-PROTBleeding disorder, platelet-type 17 (BDPLT17) [MIM:187900]: An autosomal dominant disorder characterized by increased bleeding tendency due to platelet dysfunction, and associated with macrothrombocytopenia and red cell anisopoikilocytosis. Platelets appear abnormal on light microscopy, while electron microscopy shows a heterogeneous decrease of alpha granules within platelets. Bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The severity of bleeding is variable with some affected individuals experiencing spontaneous bleeding while other exhibit only abnormal bleeding with surgery. Note=The disease is caused by mutations affecting the gene represented in this entry

    GFI1B cross reference    
    PubMed OMIM Entrez Gene NCKU SNP Nucleotide UniProt Genome Data Viewer HomoloGene