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FLASH GENE
Symbol EBF1 contributors: mct/ - updated : 25-03-2015
HGNC name early B-cell factor
HGNC id 3126
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)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein 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