GFI1
entrez
2672
canonical
uniprot
Q99684
canonical
ensembl
ENSG00000162676
resolver
ensp
ENSP00000294702
resolver
ensp
ENSP00000359357
resolver
ensp
ENSP00000399719
resolver
ensp
ENSP00000551480
resolver
ensp
ENSP00000551481
resolver
enst
ENST00000294702
resolver
enst
ENST00000370332
resolver
enst
ENST00000427103
resolver
enst
ENST00000881421
resolver
enst
ENST00000881422
resolver
genesymbol
GFI1
resolver
genesymbol_syn
ZNF163
resolver
hgnc
HGNC:4237
resolver
uniprot
Q8N564
resolver
uniprot_entry
GFI1_HUMAN
resolver
uniprot_sec
Q8N564
resolver
amino_acid_sequence
MPRSFLVKSKKAHSYHQPRSPGPDYSLRLENVPAPSRADSTSNAGGAKAEPRDRLSPESQLTEAPDRASASPDSCEGSVCERSSEFEDFWRPPSPSASPASEKSMCPSLDEAQPFPLPFKPYSWSGLAGSDLRHLVQSYRPCGALERGAGLGLFCEPAPEPGHPAALYGPKRAAGGAGAGAPGSCSAGAGATAGPGLGLYGDFGSAAAGLYERPTAAAGLLYPERGHGLHADKGAGVKVESELLCTRLLLGGGSYKCIKCSKVFSTPHGLEVHVRRSHSGTRPFACEMCGKTFGHAVSLEQHKAVHSQERSFDCKICGKSFKRSSTLSTHLLIHSDTRPYPCQYCGKRFHQKSDMKKHTFIHTGEKPHKCQVCGKAFSQSSNLITHSRKHTGFKPFGCDLCGKGFQRKVDLRRHRETQHGLK
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:12778173}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:12778173}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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). {ECO:0000250|UniProtKB:P70338, ECO:0000269|PubMed:11060035, ECO:0000269|PubMed:12778173, ECO:0000269|PubMed:16287849, ECO:0000269|PubMed:17197705, ECO:0000269|PubMed:17646546, ECO:0000269|PubMed:18805794, ECO:0000269|PubMed:19026687, ECO:0000269|PubMed:19164764, ECO:0000269|PubMed:20190815, ECO:0000269|PubMed:20547752, ECO:0000269|PubMed:29651020, ECO:0000269|PubMed:8754800}.
uniprot
proteins
mass_dalton
45297
uniprot
proteins
mutagenesis
MUTAGEN 2; /note="P->A: Abrogates transcriptional repression."; /evidence="ECO:0000269|PubMed:17197705
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated. Ubiquitination and degradation by the proteasome is inhibited by the ubiquitin ligase, ARIH2. {ECO:0000269|PubMed:17646546}.
uniprot
proteins
pubmed
11060035
uniprot
proteins
pubmed
12778173
uniprot
proteins
pubmed
12874834
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16287849
uniprot
proteins
pubmed
17197705
uniprot
proteins
pubmed
17646546
uniprot
proteins
pubmed
18805794
uniprot
proteins
pubmed
19026687
uniprot
proteins
pubmed
19164764
uniprot
proteins
pubmed
20190815
uniprot
proteins
pubmed
20547752
uniprot
proteins
pubmed
29651020
uniprot
proteins
pubmed
8754800
uniprot
proteins
pubmed
9051000
uniprot
proteins
sequence_length
422
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11060035, ECO:0000269|PubMed:12874834, ECO:0000269|PubMed:18805794, ECO:0000269|PubMed:20547752, ECO:0000269|PubMed:8754800}. Note=Colocalizes with PIAS3 and RUNX1T1 in nuclear dots.
uniprot
proteins