GFI1 Antibody – Rabbit Polyclonal

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]

GFI1: 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. Defects in GFI1 are a cause of neutropenia severe congenital autosomal dominant type 2 (SCN2). SCN2 is a disorder of hematopoiesis characterized by a 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. Defects in GFI1 are a cause of dominant nonimmune chronic idiopathic neutropenia of adults (NI-CINA). NI-CINA is a relatively mild form of neutropenia diagnosed in adults, but predisposing to leukemia in a subset of patients.

Protein type: Cell cycle regulation; Cell development/differentiation; C2H2-type zinc finger protein; Transcription factor

Chromosomal Location of Human Ortholog: 1p22

Cellular Component: nuclear body; nuclear matrix; transcriptional repressor complex; nucleus

Molecular Function: protein binding; zinc ion binding

Biological Process: regulation of toll-like receptor signaling pathway; inner ear morphogenesis; cell fate commitment; transcription, DNA-dependent; viral reproduction; positive regulation of cell fate specification; mechanosensory behavior; auditory receptor cell differentiation; negative regulation of transcription from RNA polymerase II promoter; negative regulation of cell fate specification; G1/S-specific transcription in mitotic cell cycle; inhibition of NF-kappaB transcription factor; negative regulation of transcription, DNA-dependent

Disease: Neutropenia, Nonimmune Chronic Idiopathic, Of Adults; Neutropenia, Severe Congenital, 2, Autosomal Dominant