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FLASH GENE
Symbol EBF1 contributors: mct/ - updated : 25-03-2015
HGNC name early B-cell factor
HGNC id 3126
Location 5q33.3      Physical location : 158.122.923 - 158.526.788
Synonym name
  • olfactory neuronal transcription factor 1
  • Collier, Olf and EBF transcription factor 1
  • transcription factor COE1
    • Synonym symbol(s) OLF1, EBF, COE1, O/E-1, FLJ39389, FLJ41763
    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
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 5288 - 591 - 2007 17101802
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinnercochlea highly
    Lymphoid/Immunelymph node   highly
     spleen   highly
    Visualeyeretina    Mus musculus
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose   
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
     adipocyte
    Lymphoid/Immunelymphocyte
    Nervousneuron
    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)
    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