GFI1

growth factor independent 1 transcriptional repressor

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Neutropenia, nonimmune chronic idiopathic, of adults
  • Severe congenital neutropenia 2, autosomal dominant

From UniProt:

Neutropenia, severe congenital 2, autosomal dominant (SCN2): A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. [MIM:613107]

Dominant nonimmune chronic idiopathic neutropenia of adults (NI-CINA): Relatively mild form of neutropenia diagnosed in adults, but predisposing to leukemia in a subset of patients. [MIM:607847]

Cytogenetic Location: 1p22, which is the short (p) arm of chromosome 1 at position 22

Molecular Location: base pairs 92,473,043 to 92,486,876 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1p22, which is the short (p) arm of chromosome 1 at position 22
  • GFI-1
  • GFI1A
  • SCN2
  • ZNF163