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FLASH GENE

Symbol

GFI1

contributors: mct/npt/pgu - updated : 15-11-2018

HGNC name	growth factor independent 1 transcription repressor
HGNC id	4237

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

text	Variants 1, 2 and 3 encode the same protein

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 7 - 2802 45.2 422 - 2009 19164764 variant 2 - - 2716 45.2 422 - 2009 19164764 variant 3 - - 2709 45.2 422 - 2009 19164764

EXPRESSION

Type	restricted

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine small intestine       Lymphoid/Immune thymus         Respiratory lung

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Connective bone

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic progenitor cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	six C2H2-type zinc fingers
	a gly/ala-rich region may indicate that it is a repressor of its target genes
	a SNAG-transcriptional repressor domain (comprised of a highly conserved 21-AAs sequence, present in a variety of proto-oncogenic transcription factors), repressed by JUB

HOMOLOGY

Homologene

FAMILY

CATEGORY

transcription factor , protooncogene , signaling growth factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	transcriptional repressor involved in a common pathway with ELA2 in myeloid differentiation
	promoting the proliferation of T-cells
	transcriptional repressor essential for the function and development of many different hematopoietic lineage
	essential to restrict hematopoietic stem cells (HSC)proliferation and to preserve HSC functional integrity
	nuclear zinc finger (ZF) transcriptional repressor that plays an important role in hematopoiesis and inner ear development
	may play a role in the regulation of cellular response to TGFbeta through its interaction with ZBTB17 (repression of CDKN2B, and probably also other ZBTB17 target genes involved in the negative regulation of cell cycle progression, may contribute to the role of GFI1 in tumorigenesis
	plays a role in mediating specific granule deficiency (SGD) in a patient lacking a gene-inactivating mutation in CEBPE gene
	is important in myeloid and lymphoid differentiation
	plays a critical role in the prevention of spontaneous lupus autoimmunity by negatively regulating TLR7 signaling
	GFI1 and ZC3H12C orchestrate a negative feedback loop that inhibits NFKB1 activation during inflammation in macrophages

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	with ELA2
	target of POU4F3(effector of POU3F4 for hair cell differentiation and survival)
	interacts with ZBTB17 and, via ZBTB17, is recruited to the core promoter of CDKN2B
	GABPA is required for myeloid differentiation due, in part, to its regulation of the tran-scriptional repressor GFI1
	in primary cells, transcription of GFI1B is inversely correlates with RAG1, RAG2 transcription, and simultaneous inactivation of GFI1 and GFI1B leads to an increase in RAG1, RAG2 transcription early in B cell development
	GFI1 and GFI1B are direct targets of RUNX1 and critical regulators of endothelial to hematopoietic transition (EHT)
	MYSM1 directly associates with the GFI1 enhancer element and promotes its transcription through GATA2 and RUNX1 transactivation

cell & other

REGULATION

Other	independent from IL2 for growth
	in granulocytes, rapidly degraded by the proteasome, while it is more stable in monocytes

ASSOCIATED DISORDERS

corresponding disease(s)

SCNP5

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   translocation     in neuroblastoma

Susceptibility

to hearing loss

Variant & Polymorphism other

Candidate gene	frequent target of proviral insertion in T and B cell lymphomas
Marker
Therapy target

ANIMAL & CELL MODELS