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EBF1 Gene

protein-coding   GIFtS: 57
GCID: GC05M158126

Early B-Cell Factor 1

(Previous name: early B-cell factor)
(Previous symbol: EBF)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Early B-Cell Factor 11 2     OE-12 3
EBF1 2 3 5     OLF12 5
Early B-Cell Factor1 3     Collier, Olf And EBF Transcription Factor 12
COE12 3     Olfactory Neuronal Transcription Factor 12
O/E-12 3     Transcription Factor COE12

External Ids:    HGNC: 31261   Entrez Gene: 18792   Ensembl: ENSG000001643307   OMIM: 1643435   UniProtKB: Q9UH733   

Export aliases for EBF1 gene to outside databases

Previous GC identifers: GC05M158059 GC05M153220 GC05M158123


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for EBF1 Gene:
EBF1 (early B-cell factor 1) is a protein-coding gene. Diseases associated with EBF1 include interleukin-7 receptor alpha deficiency, and plasmacytoma. GO annotations related to this gene include protein dimerization activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is EBF3.

UniProtKB/Swiss-Prot: COE1_HUMAN, Q9UH73
Function: Transcriptional activator which recognizes variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3'
(By similarity)

Gene Wiki entry for EBF1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000005.10  NT_023133.14  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the EBF1 gene promoter:
         NF-1   AML1a   NRSF form 1   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEBF1 promoter sequence
   Search Chromatin IP Primers for EBF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EBF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q34   Ensembl cytogenetic band:  5q33.3   HGNC cytogenetic band: 5q34

EBF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EBF1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M158126:  view genomic region     (about GC identifiers)

Start:
158,122,923 bp from pter      End:
158,526,788 bp from pter
Size:
403,866 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: COE1_HUMAN, Q9UH73 (See protein sequence)
Recommended Name: Transcription factor COE1  
Size: 591 amino acids; 64464 Da
Subunit: Forms either a homodimer or a heterodimer with a related family member (By similarity). Interacts with
ZNF423 and ZNF521, leading to prevent EBF1 to bind DNA and activate target genes
2 PDB 3D structures from and Proteopedia for EBF1:
3LYR (3D)        3MQI (3D)    
Secondary accessions: Q8IW11
Alternative splicing: 2 isoforms:  Q9UH73-1   Q9UH73-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for EBF1: NX_Q9UH73

Explore proteomics data for EBF1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See EBF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001277289.1  NP_076870.1  NP_874367.1  

    ENSEMBL proteins: 
     ENSP00000322898   ENSP00000370029   ENSP00000428020  
    Reactome Protein details: Q9UH73

    EBF1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for EBF1
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    Novus Biologicals EBF1 Protein
    Novus Biologicals EBF1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for EBF1

    EBF1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for EBF1
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    LSBio Antibodies in human, mouse, rat for EBF1

    EBF1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. CLIAs for EBF1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR014756 Ig_E-set
     IPR011598 bHLH_dom
     IPR002909 IPT
     IPR018350 Transcription_factor_COE_CS
     IPR013783 Ig-like_fold

    Graphical View of Domain Structure for InterPro Entry Q9UH73

    ProtoNet protein and cluster: Q9UH73

    3 Blocks protein domains:
    IPB001092 Basic helix-loop-helix dimerization domain bHLH
    IPB002909 Cell surface receptor IPT/TIG
    IPB003523 Transcription factor COE


    UniProtKB/Swiss-Prot: COE1_HUMAN, Q9UH73
    Similarity: Belongs to the COE family
    Similarity: Contains 1 IPT/TIG domain


    EBF1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: COE1_HUMAN, Q9UH73
    Function: Transcriptional activator which recognizes variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3'
    (By similarity)

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding ----
    GO:0046872metal ion binding IEA--
    GO:0046983protein dimerization activity IEA--
         
    EBF1 for ontologies           About GeneDecksing


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Ebf1):
     adipose tissue  cellular  growth/size/body  hematopoietic system  immune system 
     integument  liver/biliary system  mortality/aging  nervous system  skeleton 

    EBF1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ebf1tm1Rug for EBF1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EBF1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for EBF1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EBF1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EBF1

    Transcription Factor Targeting: 
    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  GGTCCCTAGGGA 

    miRNA
    Products:
        
    miRTarBase miRNAs that target EBF1:
    hsa-mir-335-5p (MIRT018619)

    Block miRNA regulation of human, mouse, rat EBF1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate EBF1 (see all 113):
    hsa-miR-323-3p hsa-miR-100* hsa-miR-26a-2* hsa-miR-300 hsa-miR-3146 hsa-miR-199a-3p hsa-miR-605 hsa-miR-3653
    SwitchGear 3'UTR luciferase reporter plasmidEBF1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for EBF1
    Predesigned siRNA for gene silencing in human, mouse, rat EBF1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for EBF1

    Clone
    Products:
         
    OriGene clones in human, mouse for EBF1 (see all 7)
    OriGene ORF clones in mouse, rat for EBF1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: EBF1 (NM_024007)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EBF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EBF1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for EBF1
    Browse ESI BIO Cell Lines and PureStem Progenitors for EBF1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EBF1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    COE1_HUMAN, Q9UH73: Nucleus (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    EBF1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for EBF1 About    
    See pathways by source

    SuperPathContained pathways About
    1L1CAM interactions
    Developmental Biology0.63
    2Fatty acid, triacylglycerol, and ketone body metabolism
    Transcriptional Regulation of White Adipocyte Differentiation0.38
    3Selected targets of C EBPbeta
    Selected targets of C EBPbeta
    4Selected targets of C EBPalpha
    Selected targets of C EBPalpha
    5Adipogenesis
    Adipogenesis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for EBF1
        Adipogenesis

    1 Reactome Pathway for EBF1
        Transcriptional regulation of white adipocyte differentiation



    EBF1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EBF1
    Interactions:

        GeneGlobe Interaction Network for EBF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for EBF1 (Q9UH733 ENSP000003228984) via UniProtKB, MINT, STRING, and/or I2D (see all 135)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZNF423Q2M1K93, ENSP000002623834I2D: score=4 STRING: ENSP00000262383
    CREBBPQ927933, ENSP000002623674I2D: score=2 STRING: ENSP00000262367
    EBF4Q9BQW33, ENSP000003700224I2D: score=2 STRING: ENSP00000370022
    DHHO433233, ENSP000002669914I2D: score=1 STRING: ENSP00000266991
    PTCH1Q136353, ENSP000003323534I2D: score=1 STRING: ENSP00000332353
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0007275multicellular organismal development IEA--
    GO:0045893positive regulation of transcription, DNA-templated IEA--

    EBF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for EBF1 (COE1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for EBF1 gene (3 alternative transcripts): 
    NM_001290360.1  NM_024007.3  NM_182708.1  

    Unigene Cluster for EBF1:

    Early B-cell factor 1
    Hs.573143  [show with all ESTs]
    Unigene Representative Sequence: NM_024007
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000519890 ENST00000519739 ENST00000518836(uc011ddw.2) ENST00000313708(uc010jip.3 uc011ddx.2 uc003lxl.4)
    ENST00000518323 ENST00000380654 ENST00000517373 ENST00000522192 ENST00000523464
    ENST00000523315
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat EBF1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate EBF1 (see all 113):
    hsa-miR-323-3p hsa-miR-100* hsa-miR-26a-2* hsa-miR-300 hsa-miR-3146 hsa-miR-199a-3p hsa-miR-605 hsa-miR-3653
    SwitchGear 3'UTR luciferase reporter plasmidEBF1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for EBF1
    Predesigned siRNA for gene silencing in human, mouse, rat EBF1
    Clone
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    OriGene clones in human, mouse for EBF1 (see all 7)
    OriGene ORF clones in mouse, rat for EBF1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: EBF1 (NM_024007)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EBF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EBF1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for EBF1
    OriGene qSTAR qPCR primer pairs in human, mouse for EBF1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EBF1
      QuantiTect SYBR Green Assays in human, mouse, rat EBF1
      QuantiFast Probe-based Assays in human, mouse, rat EBF1

    Additional mRNA sequence: 

    AF208502.1 AK021803.1 AK096708.1 AK123757.1 AK289712.1 AK303698.1 AK304438.1 BC019927.1 
    BC038805.1 BC041178.1 

    10 DOTS entries:

    DT.97839542  DT.309797  DT.206057  DT.97839541  DT.40198193  DT.101957176  DT.100683327  DT.120818321 
    DT.95069897  DT.95356530 

    Selected AceView cDNA sequences (see all 105):

    BQ423155 AU145682 AA904035 BM685055 AI478562 AK021803 BM802733 H88863 
    AA669979 AA746092 BX282724 AA910081 BM932023 AI493206 AA427900 AI435401 
    AK096708 CB990370 AU119304 BX506371 AA917497 AK123757 AA743152 AA737513 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    EBF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCAGTGGTT
    EBF1 Expression
    About this image


    EBF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 21) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 7 entries
             Common Lymphoid Progenitor Cells Hematopoietic Bone Marrow
             Umbilical cord blood-derived mesenchymal stem cells
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Adult Endothelial Cells Blood Brain Barrier
             Thalamus
             Midbrain dopaminergic-like neurons
     
     Neurons
             nGnG Amacrine Cells Inner Nuclear Layer
             Midbrain dopaminergic-like neurons
     
     Eye (Sensory Organs)    fully expand to see all 6 entries
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
    EBF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EBF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.573143
        Custom PCR Arrays for EBF1
    Primer
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    OriGene qPCR primer pairs and template standards for EBF1
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    QuantiFast Probe-based Assays in human, mouse, rat EBF1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EBF1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for EBF1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ebf11 , 5 early B cell factor 11, 5 94.08(n)1
    100(a)1
      11 (26.45 cM)5
    135911  NM_007897.21  NP_031923.11 
     446173175 
    chicken
    (Gallus gallus)
    Aves EBF11 early B-cell factor 1 86.63(n)
    98.48(a)
      395512  NM_204752.1  NP_990083.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    97(a)
    78(a)
    (see all 3)
    many → 1
    many → 1
    (see all 3)
    GL343205.1(3673862-3794713)
    GL343445.1(671921-706022)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ebf11 early B-cell factor 1 81.44(n)
    94.59(a)
      100492234  XM_002939608.2  XP_002939654.2 
    zebrafish
    (Danio rerio)
    Actinopterygii coe22 coe2 73.7(n)   30692  AF072657.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta kn6
    knot
    52(a)
    1 → many
    2R(10660152-10694566)
    worm
    (Caenorhabditis elegans)
    Secernentea unc-31 unc-3 64.11(n)
    70.14(a)
      181573  NM_078052.3  NP_510453.1 


    ENSEMBL Gene Tree for EBF1 (if available)
    TreeFam Gene Tree for EBF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EBF1 gene
    EBF32  EBF22  EBF42  
    4 SIMAP similar genes for EBF1 using alignment to 2 protein entries:     COE1_HUMAN (see all proteins):
    EBF3    DKFZp667I0324    EBF2    EBF4

    EBF1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for EBF1 (see all 7488)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1917145351,2
    --158122433(+) AAAAAA/TTATTG 1 -- int10--------
    rs1178725891,2
    C,F--158122436(+) AAATAT/ATGATA 1 -- int11Minor allele frequency- A:0.02EA 120
    rs1151639761,2
    F--158122447(+) ACAGAA/TGGCTC 1 -- int11Minor allele frequency- T:0.01WA 118
    rs1841208651,2
    --158122461(+) TCACAC/TATGCC 1 -- int10--------
    rs1879531191,2
    --158122509(+) AGAAGA/GCTCGC 1 -- int10--------
    rs1930709461,2
    --158122512(+) AGGCTC/TGCTGG 1 -- int10--------
    rs790119821,2
    C,F--158122566(+) AGCACG/AAAGGA 1 -- int11Minor allele frequency- A:0.04NA 120
    rs1858008811,2
    --158122572(+) AAGGAG/TAGGGG 1 -- int10--------
    rs117383361,2
    H--158122631(+) TCTCAG/TGGCTT 1 -- int14Minor allele frequency- T:0.00NS EA 420
    rs21611401,2
    C,F,O,A,H--158122679(-) CACACT/CGGTCC 1 -- int130Minor allele frequency- C:0.17NS EA NA WA CSA 2854

    HapMap Linkage Disequilibrium report for EBF1 (158122923 - 158372923 bp, first 250kb of EBF1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for EBF1 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2730966CNV Deletion23290073
    esv2730967CNV Deletion23290073
    esv999938CNV Deletion20482838
    esv2730968CNV Deletion23290073
    nsv5094CNV Insertion18451855
    nsv5093CNV Insertion18451855
    dgv153e180CNV Loss20482838
    nsv524803CNV Loss19592680
    nsv526407CNV Loss19592680
    nsv830528CNV Gain17160897

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 164343    OMIM disorders: --

    14 diseases for EBF1:    
    About MalaCards
    interleukin-7 receptor alpha deficiency    plasmacytoma    primary effusion lymphoma    neuronitis
    b-cell lymphomas    lymphoblastic leukemia    hodgkin's lymphoma    multiple sclerosis
    neuroblastoma    obesity    leukemia    breast cancer
    endotheliitis    malaria


    EBF1 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for EBF1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    plasmacytoma 65 1 8693297 (1)
    tumors 0 1 19996307 (1)

    Genetic Association Database (GAD): EBF1
    Human Genome Epidemiology (HuGE) Navigator: EBF1 (5 documents)

    Export disorders for EBF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for EBF1 gene, integrated from 10 sources (see all 85):
    (articles sorted by number of sources associating them with EBF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Gene for a tissue-specific transcriptional activator (EBF or Olf-1), expressed in early B lymphocytes, adipocytes, and olfactory neurons, is located on human chromosome 5, band q34, and proximal mouse chromosome 11. (PubMed id 8012110)1, 3, 9 Milatovich A....Francke U. (Mamm. Genome 1994)
    2. Cloning of human early B-cell factor and identification of target genes suggest a conserved role in B-cell development in man and mouse. (PubMed id 10942392)1, 2, 9 Gisler R.... Sigvardsson M. (Blood 2000)
    3. Early hematopoietic zinc finger protein (EHZF), the human homolog to mouse Evi3, is highly expressed in primitive human hematopoietic cells. (PubMed id 14630787)1, 2, 9 Bond H.M.... Venuta S. (Blood 2004)
    4. Structural determination of functional domains in early B-cell factor (EBF) family of transcription factors reveals similarities to Rel DNA- binding proteins and a novel dimerization motif. (PubMed id 20592035)1, 2 Siponen M.I.... Berglund H. (J. Biol. Chem. 2010)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Inhibition of p300/CBP by early B-cell factor. (PubMed id 12748286)1, 9 Zhao F....Kadesch T. (Mol. Cell. Biol. 2003)
    7. Inhibition of EBF function by active Notch signaling reveals a novel regulatory pathway in early B-cell development. (PubMed id 15920012)1, 9 Smith E.M....Sigvardsson M. (Blood 2005)
    8. Early B-cell Factor gene association with multiple sclerosis in the Spanish population. (PubMed id 16255771)1, 9 MartA-nez A....Urcelay E. (BMC Neurol 2005)
    9. The human V-preB promoter is a target for coordinated activation by early B cell factor and E47. (PubMed id 11994467)1, 9 Gisler R. and Sigvardsson M. (J. Immunol. 2002)
    10. Cloning and functional characterization of early B-cell factor, a regulator of lymphocyte-specific gene expression. (PubMed id 8491377)1, 9 Hagman J....Grosschedl R. (amp 1993)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1879 HGNC: 3126 AceView: EBF Ensembl:ENSG00000164330 euGenes: HUgn1879
    ECgene: EBF1 H-InvDB: EBF1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for EBF1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for EBF1 gene:
    Search GeneIP for patents involving EBF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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