GFI1B
entrez
8328
canonical
uniprot
Q5VTD9
canonical
ensembl
ENSG00000165702
resolver
ensp
ENSP00000344782
resolver
ensp
ENSP00000361195
resolver
ensp
ENSP00000361196
resolver
ensp
ENSP00000490303
resolver
ensp
ENSP00000536845
resolver
ensp
ENSP00000624350
resolver
enst
ENST00000636137
resolver
enst
ENST00000866786
resolver
enst
ENST00000954291
resolver
genesymbol
GFI1B
resolver
hgnc
HGNC:4238
resolver
uniprot
A0A024R8F3
resolver
uniprot
O95270
resolver
uniprot
Q5VTD8
resolver
uniprot
Q6FHZ2
resolver
uniprot
Q6T888
resolver
uniprot_entry
A0A024R8F3_HUMAN
resolver
uniprot_entry
GFI1B_HUMAN
resolver
uniprot_sec
O95270
resolver
uniprot_sec
Q5VTD8
resolver
uniprot_sec
Q6FHZ2
resolver
uniprot_sec
Q6T888
resolver
amino_acid_sequence
MPRSFLVKSKKAHTYHQPRVQEDEPLWPPALTPVPRDQAPSNSPVLSTLFPNQCLDWTNLKREPELEQDQNLARMAPAPEGPIVLSRPQDGDSPLSDSPPFYKPSFSWDTLATTYGHSYRQAPSTMQSAFLEHSVSLYGSPLVPSTEPALDFSLRYSPGMDAYHCVKCNKVFSTPHGLEVHVRRSHSGTRPFACDICGKTFGHAVSLEQHTHVHSQERSFECRMCGKAFKRSSTLSTHLLIHSDTRPYPCQFCGKRFHQKSDMKKHTYIHTGEKPHKCQVCGKAFSQSSNLITHSRKHTGFKPFSCELCTKGFQRKVDLRRHRESQHNLK
uniprot
proteins
disease_involvement
DISEASE: Bleeding disorder, platelet-type, 17 (BDPLT17) [MIM:187900]: An autosomal dominant disorder characterized by increased bleeding tendency due to platelet dysfunction, and associated with macrothrombocytopenia and red cell anisopoikilocytosis. Platelets appear abnormal on light microscopy, while electron microscopy shows a heterogeneous decrease of alpha granules within platelets. Bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The severity of bleeding is variable with some affected individuals experiencing spontaneous bleeding while other exhibit only abnormal bleeding with surgery. {ECO:0000269|PubMed:23927492, ECO:0000269|PubMed:24325358}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Essential proto-oncogenic transcriptional regulator necessary for development and differentiation of erythroid and megakaryocytic lineages. Component of a RCOR-GFI-KDM1A-HDAC complex that suppresses, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development and controls hematopoietic differentiation. Transcriptional repressor or activator depending on both promoter and cell type context; represses promoter activity of SOCS1 and SOCS3 and thus, may regulate cytokine signaling pathways. Cooperates with GATA1 to repress target gene transcription, such as the apoptosis regulator BCL2L1; GFI1B silencing in leukemic cell lines markedly increase apoptosis rate. Inhibits down-regulation of MYC and MYB as well as the cyclin-dependent kinase inhibitor CDKN1A/P21WAF1 in IL6-treated myelomonocytic cells. Represses expression of GATA3 in T-cell lymphomas and inhibits GATA1-mediated transcription; as GATA1 also mediates erythroid GFI1B transcription, both GATA1 and GFI1B participate in a feedback regulatory pathway controlling the expression of GFI1B gene in erythroid cells. Suppresses GATA1-mediated stimulation of GFI1B promoter through protein interaction. Binds to gamma-satellite DNA and to its own promoter, auto-repressing its own expression. Alters histone methylation by recruiting histone methyltransferase to target genes promoters. Plays a role in heterochromatin formation. {ECO:0000269|PubMed:12351384, ECO:0000269|PubMed:16177182, ECO:0000269|PubMed:16688220, ECO:0000269|PubMed:16782810, ECO:0000269|PubMed:17156408, ECO:0000269|PubMed:17272506, ECO:0000269|PubMed:17420275}.
uniprot
proteins
mass_dalton
37492
uniprot
proteins
mutagenesis
MUTAGEN 290; /note="N->S: Prevents DNA-binding."; /evidence="ECO:0000269|PubMed:17272506
uniprot
proteins
post_translational_modification
PTM: Methylation at Lys-8 in the SNAG domain seems required for the recruitment of the corepressor complex. {ECO:0000269|PubMed:22399799}.
uniprot
proteins
pubmed
12351384
uniprot
proteins
pubmed
12874834
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15280509
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16177182
uniprot
proteins
pubmed
16688220
uniprot
proteins
pubmed
16782810
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17156408
uniprot
proteins
pubmed
17272506
uniprot
proteins
pubmed
17420275
uniprot
proteins
pubmed
17646546
uniprot
proteins
pubmed
22399799
uniprot
proteins
pubmed
23927492
uniprot
proteins
pubmed
24325358
uniprot
proteins
pubmed
9878267
uniprot
proteins
sequence_length
330
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16688220}.
uniprot
proteins