AlphaFold predicted structure
GFI1 · Q99684
Mean pLDDT
56.8/ 100
Low
422 residues
Confidence breakdown
- Very high(≥ 90)27%
- Confident(70–90)13%
- Low(50–70)3%
- Very low(< 50)58%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
GFI1
Chr 1p22.1growth factor independent 1 transcriptional repressor
- Aliases:
- GFI1A, GFI-1
- MANE:
- ENST00000294702.6
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
COVID-19 research
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedCytopenia - NOT Fanconi anaemia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedCytopenias and congenital anaemias
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedPrimary immunodeficiency or monogenic inflammatory bowel disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedMonogenic hearing loss
Disease associations (Open Targets)
neutropenia, severe congenital, 2, autosomal dominant
0.73nonimmune chronic idiopathic neutropenia of adults
0.69autosomal dominant severe congenital neutropenia
0.65severe congenital neutropenia
0.53multiple sclerosis
0.35type 2 diabetes mellitus
0.33systemic lupus erythematosus
0.31neurodegenerative disease
0.29obesity disorder
0.27obstructive sleep apnea syndrome
0.24
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Zinc finger protein Gfi-1
Transcription repressor essential for hematopoiesis (PubMed:11060035, PubMed:17197705, PubMed:17646546, PubMed:18805794, PubMed:19164764, PubMed:20190815, PubMed:8754800). Functions in a cell-context and development-specific manner (PubMed:11060035, PubMed:17197705, PubMed:17646546, PubMed:18805794, PubMed:19164764, PubMed:20190815, PubMed:8754800). Binds to 5'-TAAATCAC[AT]GCA-3' in the promoter region of a large number of genes (PubMed:11060035, PubMed:17197705, PubMed:17646546, PubMed:18805794, PubMed:19164764, PubMed:20190815, PubMed:8754800). 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 (PubMed:16287849). Regulates neutrophil differentiation, promotes proliferation of lymphoid cells, and is required for granulocyte development (PubMed:12778173). Inhibits SPI1 transcriptional activity at macrophage-specific genes, repressing macrophage differentiation of myeloid progenitor cells and promoting granulocyte commitment (By similarity). Mediates, together with U2AF1L4, the alternative splicing of CD45 and controls T-cell receptor signaling (By similarity). Regulates the endotoxin-mediated Toll-like receptor (TLR) inflammatory response by antagonizing RELA (PubMed:20547752). Cooperates with CBFA2T2 to regulate ITGB1-dependent neurite growth (PubMed:19026687). 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 (PubMed:16287849). Required for the maintenance of inner ear hair cells (By similarity). In addition to its role in transcription, acts as a substrate adapter for PRMT1 in the DNA damage response: facilitates the recognition of TP53BP1 and MRE11 substrates by PRMT1, promoting their methylation and the DNA damage response (PubMed:29651020)
Diseases associated with GFI1
Curated MONDO disease pages that list GFI1 among their top associated genes.