InnateDB Protein
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IDBP-100282.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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GFI1
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Protein Name
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growth factor independent 1 transcription repressor
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Synonyms
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GFI-1; GFI1A; SCN2; ZNF163;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000359357
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InnateDB Gene
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IDBG-100280 (GFI1)
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Protein Structure
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Function |
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. {ECO:0000269PubMed:11060035, ECO:0000269PubMed:12778173, ECO:0000269PubMed:16287849, ECO:0000269PubMed:17197705, ECO:0000269PubMed:17646546, ECO:0000269PubMed:18805794, ECO:0000269PubMed:19026687, ECO:0000269PubMed:19164764, ECO:0000269PubMed:20190815, ECO:0000269PubMed:20547752, ECO:0000269PubMed:8754800}.
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Subcellular Localization |
Nucleus {ECO:0000269PubMed:11060035, ECO:0000269PubMed:12874834, ECO:0000269PubMed:18805794, ECO:0000269PubMed:20547752, ECO:0000269PubMed:8754800}. Note=Colocalizes with PIAS3 and RUNX1T1 in nuclear dots.
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Disease Associations |
Neutropenia, severe congenital 2, autosomal dominant (SCN2) [MIM:613107]: 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. {ECO:0000269PubMed:12778173}. Note=The disease is caused by mutations affecting the gene represented in this entry.Dominant nonimmune chronic idiopathic neutropenia of adults (NI-CINA) [MIM:607847]: Relatively mild form of neutropenia diagnosed in adults, but predisposing to leukemia in a subset of patients. {ECO:0000269PubMed:12778173}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 59 experimentally validated interaction(s) in this database.
They are also associated with 17 interaction(s) predicted by orthology.
Experimentally validated |
Total |
59
[view]
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Protein-Protein |
50
[view]
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Protein-DNA |
9
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
17 [view]
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Molecular Function |
Accession |
GO Term |
GO:0001078
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RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
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GO:0005515
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protein binding
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GO:0008270
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zinc ion binding
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GO:0044212
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transcription regulatory region DNA binding
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GO:0046872
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metal ion binding
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Biological Process |
GO:0000083
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regulation of transcription involved in G1/S transition of mitotic cell cycle
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GO:0000122
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negative regulation of transcription from RNA polymerase II promoter
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GO:0006351
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transcription, DNA-templated
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GO:0007638
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mechanosensory behavior
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GO:0009996
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negative regulation of cell fate specification
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GO:0010956
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negative regulation of calcidiol 1-monooxygenase activity
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GO:0010957
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negative regulation of vitamin D biosynthetic process
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GO:0010977
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negative regulation of neuron projection development
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GO:0016032
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viral process
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GO:0032088
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negative regulation of NF-kappaB transcription factor activity
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GO:0034121
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regulation of toll-like receptor signaling pathway
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GO:0042472
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inner ear morphogenesis
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GO:0042491
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auditory receptor cell differentiation
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GO:0042660
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positive regulation of cell fate specification
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GO:0045165
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cell fate commitment
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GO:0045892
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negative regulation of transcription, DNA-templated
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GO:0070105
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positive regulation of interleukin-6-mediated signaling pathway
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GO:0071222
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cellular response to lipopolysaccharide
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Cellular Component |
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PDB ID |
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InterPro |
IPR007087
Zinc finger, C2H2
IPR015880
Zinc finger, C2H2-like
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PFAM |
PF00096
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PRINTS |
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PIRSF |
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SMART |
SM00355
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TIGRFAMs |
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Modification |
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SwissProt |
Q99684
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PhosphoSite |
PhosphoSite-Q99684
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TrEMBL |
D3DT36
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UniProt Splice Variant |
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Entrez Gene |
2672
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UniGene |
Hs.73172
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RefSeq |
NP_001120687
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HUGO |
HGNC:4237
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OMIM |
600871
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CCDS |
CCDS30773
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HPRD |
07527
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IMGT |
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EMBL |
BC032751
BC074866
BC074867
CH471097
U67369
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GenPept |
AAB37272
AAH32751
AAH74866
AAH74867
EAW73092
EAW73093
EAW73094
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