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zinc finger protein Gfi-1; growth factor independent protein 1; zinc finger protein 163 (GFI1, ZNF163)

Function: - transcription repressor essential for hematopoiesis - functions in a cell-context & 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 - EHMT2-GFI1-HDAC1 - AJUBA-GFI1-HDAC1 - RCOR-GFI-KDM1A-HDAC - these complexes suppress, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development - regulates neutrophil differentiation, promotes proliferation of lymphoid cells, & is required for granulocyte development - mediates, together with U2AF1L4, the alternative splicing of CD45 & controls T-cell receptor signaling - regulates the endotoxin- mediated Toll-like receptor 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 promoter - required for maintenance of inner ear hair cells - ubiquitinated - ubiquitination & degradation by the proteasome is inhibited by the ubiquitin ligase, ARIH2 - interacts with U2AF1L4 - component of RCOR-GFI-KDM1A-HDAC complexes - interacts directly with RCOR1, KDM1A & HDAC2 - also interacts with HDAC1 - interacts (via the Zn+2-finger domain) with ARIH2 - the interaction prevents GFI1 ubiquitination & proteasomal degradation - interacts with PIAS3 - the interaction relieves the inhibitory effect of PIAS3 on STAT3-mediated transcriptional activity - forms a complex with EHMT2 & HDAC1 to promote Lys-9 dimethylation of H3 (H3K9Me2) & repress expression of target genes - interacts directly with EHMT2 - component of the GFI1-AJUBA-HDAC1 repressor complex - interacts directly with AJUBA (via ITS LIM domains); - the interaction results in the HDAC-dependent corepression of a subset of GFI1 target genes &, occurs independently of the SNAG domain - interacts with SPI1 - the interaction inhibits SPI1 transcriptional activity & represses SPI1-regulated macrophage-specific genes required for proper granulocyte development - interacts with RUNX1T1; - the interaction represses HDAC-mediated transcriptional activity - interacts with RELA; the interaction occurs on liposaccharide (LPS) stimulation & controls RELA DNA binding activity & regulates endotoxin-mediated TOLL-like receptor inflammatory response - interacts (via the C-terminal Zn+2 fingers) with ZBTB17 - the interaction results in the recruitment of GFI1 to the CDKN1A/p21 promoter & repression of CDKN1A/p21 transcription Structure: - C2H2-type Zn+2 fingers 3, 4 & 5 are required for DNA-binding & for interaction with SPI1 - the SNAG domain of GFIs is required for nuclear location & for interaction with some corepressors (putative) - contains 6 C2H2-type Zn+2 fingers Compartment: - nucleus - colocalizes with PIAS3 & RUNX1T1 in nuclear dots Expression: down-regulated by TGFB1 Pathology: - defects in GFI1 are a cause of a) neutropenia severe congenital autosomal dominant type 2 b)dominant nonimmune chronic idiopathic neutropenia of adults

General

C2H2 type zinc finger protein phosphoprotein transcriptional silencer (transcriptional repressor)

Properties

SIZE: entity length = 422 aa MW = 45 kD COMPARTMENT: cell nucleus MOTIF: SNAG domain {1-20} Ser phosphorylation site {S56} RELA interaction {140-257} MOTIF: glycine-rich region {158-209} Zn finger C2H2-type SITE: 255-278 EFFECTOR-BOUND: Zn+2 Zn finger C2H2-type SITE: 284-306 EFFECTOR-BOUND: Zn+2 Zn finger C2H2-type SITE: 312-334 EFFECTOR-BOUND: Zn+2 Zn finger C2H2-type SITE: 340-362 EFFECTOR-BOUND: Zn+2 Zn finger C2H2-type SITE: 368-390 EFFECTOR-BOUND: Zn+2 Zn finger C2H2-type SITE: 396-419 EFFECTOR-BOUND: Zn+2

Database Correlations

OMIM correlations MORBIDMAP 600871 UniProt Q99684 Pfam PF00096 Entrez Gene 2672 Kegg hsa:2672

References

  1. UniProt :accession Q99684
  2. GFI1base; Note: GFI1 mutation db http://bioinf.uta.fi/GFI1base/