Aliases for GFI1 Gene
External Ids for GFI1 Gene
Previous HGNC Symbols for GFI1 Gene
Previous GeneCards Identifiers for GFI1 Gene
This gene encodes a nuclear zinc finger protein that functions as a transcriptional repressor. This protein plays a role in diverse developmental contexts, including hematopoiesis and oncogenesis. It functions as part of a complex along with other cofactors to control histone modifications that lead to silencing of the target gene promoters. Mutations in this gene cause autosomal dominant severe congenital neutropenia, and also dominant nonimmune chronic idiopathic neutropenia of adults, which are heterogeneous hematopoietic disorders that cause predispositions to leukemias and infections. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for GFI1 Gene
GFI1 (Growth Factor Independent 1 Transcriptional Repressor) is a Protein Coding gene. Diseases associated with GFI1 include Neutropenia, Severe Congenital, 2, Autosomal Dominant and Neutropenia, Nonimmune Chronic Idiopathic, Of Adults. Among its related pathways are Th2 Differentiation Pathway and Development and heterogeneity of the ILC family. Gene Ontology (GO) annotations related to this gene include transcription regulatory region DNA binding and transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is GFI1B.
UniProtKB/Swiss-Prot for GFI1 Gene
Transcription repressor essential for hematopoiesis. Functions in a cell-context and development-specific manner. Binds to 5-TAAATCAC[AT]GCA-3 in the promoter region of a large number of genes. Component of several complexes, including the EHMT2-GFI1-HDAC1, AJUBA-GFI1-HDAC1 and RCOR-GFI-KDM1A-HDAC complexes, that suppress, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development. Regulates neutrophil differentiation, promotes proliferation of lymphoid cells, and is required for granulocyte development. Mediates, together with U2AF1L4, the alternative splicing of CD45 and controls T-cell receptor signaling. Regulates the endotoxin-mediated Toll-like receptor (TLR) inflammatory response by antagonizing RELA. Cooperates with CBFA2T2 to regulate ITGB1-dependent neurite growth. Controls cell-cycle progression by repressing CDKNIA/p21 transcription in response to TGFB1 via recruitment of GFI1 by ZBTB17 to the CDKNIA/p21 and CDKNIB promoters. Required for the maintenance of inner ear hair cells.