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FLASH GENE

Symbol

EBF1

contributors: mct/ - updated : 25-03-2015

HGNC name	early B-cell factor
HGNC id	3126

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	403.87 kb     16 Exon(s)

regulatory sequence	Promoter
text structure	promoter participating in the regulation of stage and lineage specific expression of the gene

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_024007 16 - 5288 NP_076870 - 591 - 2007 17101802

EXPRESSION

Type

widely

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 Hearing/Equilibrium ear inner cochlea   highly Lymphoid/Immune lymph node       highly   spleen       highly Visual eye retina       Mus musculus

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol   adipocyte Lymphoid/Immune lymphocyte Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal DNA-binding domain(DBD), cysteine rich region of &
	8764;225 amino acids
	a transcription factor immunoglobulin (TIG/IPT) domain
	a helix–loop–helix (HLH) domain,
	atypical zinc-finger and helix-loop-helix motif
	a C-terminal transactivation domain, which is predicted to be unstructured

mono polymer

homomer , dimer

HOMOLOGY

interspecies

homolog to murine Ebf

Homologene

FAMILY

COE family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	transcriptional activator involved in B cell development
	implicated in the differentiation of neural progenitors and in the specification of the B-cell lineage
	keystone in the regulatory network that coordinates B cell lineage specification and commitment
	transcription factor essential for B cell fate specification and function and important for the development of olfactory sensory neurons
	plays an important role in regulating osteoblast and adipocyte development
	transcription factor that regulates both the osteoblast and adipocyte lineages similarly
	during B-cell development, required for the expression of PAX5, an essential factor for the production of antibody-secreting cells
	tumor suppressors whose inactivation blocks normal development and contributes to tumorigenesis of diverse types of cancer
	key transcriptional determinant of B-lymphocyte differentiation whose DNA-binding domain has no sequence similarity to other transcription factor families
	contacts the DNA with two loop-based modules and a unique Zn coordination motif whereby each EBF1 monomer interacts with both palindromic half-sites
	is required for suppressing the Müller cell fate during retinogenesis and important for the correct topographic projection of RGC (retinal ganglion cell) axons at the optic chiasm
	normally suppresses the differentiation of Müller glial cells
	involved in the coordination of cell proliferation, survival, and differentiation at multiple stages of B lymphopoiesis (r
	important functions of EBF1 in controlling B cell immunity
	essential for development and differentiation of lymphocytes
	EBF1 and FOXO1 act in a positive feedback circuitry to promote and stabilize specification to the B-cell lineage
	regulates bone formation in an osteoblast-nonautonomous manner
	both EBF1 and PAX5 are required for B lineage commitment by repressing distinct and common determinants of alternative cell fates
	has a significant and novel role in glomerular development, podocyte maturation, and the maintenance of kidney integrity and function
	plays a crucial role in early adipogenesis, and functions as a key integrator of signal transduction, inflammation, and metabolism
	BACH2 functions with BACH1 and EBF1 to promote B cell development by repressing myeloid genes in common lymphoid progenitor (CLP) (

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	PSMB5 and B29 promoter
	binds to the ATF5 promoter and regulates the ATF5
	MYSM1 plays a critical role in early B-cell commitment and development by de-repressing the transcription of EBF1
	interacting with ZNF521 (plays an important role in the control of B-cell development by inhibiting the activity of EBF1, a master factor in B-lineage specification)
	takes potentially part in transcriptional regulations of the PRDM1 gene in immature B cells, and may play a key role in B cell differentiation
	promotes B cell lineage commitment by directly repressing expression of the T-cell-lineage-requisite GATA3
	KAT2A and EBF1 participate in regulation of PRKCQ gene expression in an opposite manner in immature B cells
	interaction of CNOT3 with EBF1 diversifies the function of EBF1 in a context-dependent manner and may coordinate transcriptional and post-transcriptional gene regulation

cell & other

REGULATION

inhibited by	EHZF
	active Notch signaling that reveals a novel regulatory pathway in early B-cell development

repressed by	ZNF521 (suppresses EBF1 activity via its C-terminal
		zinc fingers )

Other	regulated by ZNF521
	regulated via distinct promoters (allows for the generation of several feedback loops and the coordination of multiple determinants of B lymphopoiesis in a regulatory network)
	regulated by Notch signaling (modulates the function of the transcription factor, early B-cell factor (EBF))

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral somatic mutation       in acute lymphoblastic leukaemia tumoral   deletion     in acute lymphoblastic leukaemia

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Ebf1-deficient mice appear to be a new model of lipodystrophy
	Ebf1 mutants exhibit more contralateral projection of retinal ganglion cell axons but less ipsilateral projection