Aliases for EBF1 Gene

Aliases for EBF1 Gene

  • EBF Transcription Factor 1 2 3 5
  • COE1 2 3 4
  • Transcription Factor COE1 3 4
  • Early B Cell Factor 1 2 3
  • Early B-Cell Factor 2 4
  • O/E-1 3 4
  • OLF1 2 3
  • EBF 3 4
  • Collier, Olf And EBF Transcription Factor 1 3
  • Olfactory Neuronal Transcription Factor 1 3
  • EBF1 5
  • OE-1 4

External Ids for EBF1 Gene

Previous HGNC Symbols for EBF1 Gene

  • EBF

Previous GeneCards Identifiers for EBF1 Gene

  • GC05M158059
  • GC05M153220
  • GC05M158123
  • GC05M158126

Summaries for EBF1 Gene

GeneCards Summary for EBF1 Gene

EBF1 (EBF Transcription Factor 1) is a Protein Coding gene. Diseases associated with EBF1 include Plasmacytoma and B-Lymphoblastic Leukemia/Lymphoma With Etv6-Runx1. Among its related pathways are Developmental Biology and Adipogenesis. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and C2H2 zinc finger domain binding. An important paralog of this gene is EBF3.

UniProtKB/Swiss-Prot Summary for EBF1 Gene

  • Key pioneer transcription factor of B-cell specification and commitment (PubMed:27807034). Recognizes variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3'. Operates in a transcription factor network to activate B-cell-specific genes and repress genes associated with alternative cell fates. For instance, positively regulates many B-cell specific genes including BCR or CD40 while repressing genes that direct cells into alternative lineages, including GATA3 and TCF7 for the T-cell lineage. In addition to its role during lymphopoiesis, controls the thermogenic gene program in adipocytes during development and in response to environmental cold (By similarity).
  • (Microbial infection) Acts as a chromatin anchor for Epstein-Barr virus EBNA2 to mediate the assembly of EBNA2 chromatin complexes in B-cells (PubMed:28968461). In addition, binds to the viral LMP1 proximal promoter and promotes its expression during latency (PubMed:26819314).

Gene Wiki entry for EBF1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EBF1 Gene

Genomics for EBF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EBF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J159094 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 263.9 +1.6 1564 7.7 BCLAF1 SP1 ZNF654 MYC ZNF600 IKZF1 JUND ZNF580 ATF2 POLR2A LINC02202 EBF1 HSALNG0046187 RNF145
GH05J160008 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 32 -909.8 -909780 2.6 NCOR1 MYC ZNF654 SIX5 JUND ZNF580 ATF2 POLR2A CEBPA ZNF223 TTC1 ENSG00000199398 PWWP2A ZBED8 EBF1 LINC02202 RNF145 C1QTNF2 FABP6 ENSG00000223908
GH05J159049 Promoter/Enhancer 1.7 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 27.4 +48.6 48591 4.2 BCL11A FEZF1 CTCF ZNF148 EBF1 ZNF843 RAD21 PRDM6 TAF1 ZBTB48 EBF1 LINC02202 lnc-RNF145-1 lnc-UBLCP1-10 HSALNG0046187
GH05J158695 Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.1 +400.6 400576 8.3 ZNF207 ZNF654 JUND BCL11A CTCF REST TRIM22 MAFF RAD21 IRF4 EBF1 LINC02202 lnc-EBF1-3 lnc-RNF145-5 HSALNG0046177 CLINT1
GH05J159335 Enhancer 1.2 FANTOM5 Ensembl ENCODE 10.8 -237.7 -237743 4.9 IKZF1 CEBPB EP300 KLF9 TCF7L2 SKIL JUND ATF1 CBX1 SPI1 IL12B PWWP2A EBF1 RNF145 piR-56133-186 LOC285626 ADRA1B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EBF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EBF1

Top Transcription factor binding sites by QIAGEN in the EBF1 gene promoter:
  • AML1a
  • NF-1
  • NRSF form 1
  • NRSF form 2

Genomic Locations for EBF1 Gene

Latest Assembly
chr5:158,695,916-159,099,916
(GRCh38/hg38)
Size:
404,001 bases
Orientation:
Minus strand

Previous Assembly
chr5:158,122,928-158,526,924
(GRCh37/hg19 by Entrez Gene)
Size:
403,997 bases
Orientation:
Minus strand

chr5:158,122,928-158,526,769
(GRCh37/hg19 by Ensembl)
Size:
403,842 bases
Orientation:
Minus strand

Genomic View for EBF1 Gene

Genes around EBF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EBF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EBF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EBF1 Gene

Proteins for EBF1 Gene

  • Protein details for EBF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UH73-COE1_HUMAN
    Recommended name:
    Transcription factor COE1
    Protein Accession:
    Q9UH73
    Secondary Accessions:
    • Q8IW11

    Protein attributes for EBF1 Gene

    Size:
    591 amino acids
    Molecular mass:
    64464 Da
    Quaternary structure:
    • Homodimer (PubMed:20592035). Interacts with ZNF423 and ZNF521, leading to prevent EBF1 to bind DNA and activate target genes (PubMed:14630787). Interacts with CCR4-NOT component CNOT3 (PubMed:14630787).
    • (Microbial infection) Interacts with Epstein-barr virus protein EBNA2.

    Three dimensional structures from OCA and Proteopedia for EBF1 Gene

    Alternative splice isoforms for EBF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EBF1 Gene

Post-translational modifications for EBF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for EBF1 Gene

Domains & Families for EBF1 Gene

Gene Families for EBF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for EBF1 Gene

InterPro:
Blocks:
  • Cell surface receptor IPT/TIG
  • Basic helix-loop-helix dimerization domain bHLH
  • Transcription factor COE

Suggested Antigen Peptide Sequences for EBF1 Gene

GenScript: Design optimal peptide antigens:
  • Early B-cell factor (COE1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UH73

UniProtKB/Swiss-Prot:

COE1_HUMAN :
  • Belongs to the COE family.
Family:
  • Belongs to the COE family.
genes like me logo Genes that share domains with EBF1: view

Function for EBF1 Gene

Molecular function for EBF1 Gene

UniProtKB/Swiss-Prot Function:
Key pioneer transcription factor of B-cell specification and commitment (PubMed:27807034). Recognizes variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3'. Operates in a transcription factor network to activate B-cell-specific genes and repress genes associated with alternative cell fates. For instance, positively regulates many B-cell specific genes including BCR or CD40 while repressing genes that direct cells into alternative lineages, including GATA3 and TCF7 for the T-cell lineage. In addition to its role during lymphopoiesis, controls the thermogenic gene program in adipocytes during development and in response to environmental cold (By similarity).
UniProtKB/Swiss-Prot Function:
(Microbial infection) Acts as a chromatin anchor for Epstein-Barr virus EBNA2 to mediate the assembly of EBNA2 chromatin complexes in B-cells (PubMed:28968461). In addition, binds to the viral LMP1 proximal promoter and promotes its expression during latency (PubMed:26819314).

Phenotypes From GWAS Catalog for EBF1 Gene

Gene Ontology (GO) - Molecular Function for EBF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with EBF1: view
genes like me logo Genes that share phenotypes with EBF1: view

Animal Models for EBF1 Gene

MGI Knock Outs for EBF1:
Targeted motifs for EBF1 Gene
HOMER Transcription Factor Regulatory Elements motif EBF1
  • Consensus sequence: GGTCCCTAGGGA Submotif: canonical Cell Type: proBcell GEO ID: GSE21978

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EBF1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Transcription Factor Targets for EBF1 Gene

Localization for EBF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EBF1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EBF1 gene
Compartment Confidence
nucleus 4
plasma membrane 2
extracellular 2
cytoskeleton 2
cytosol 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EBF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with EBF1: view

Pathways & Interactions for EBF1 Gene

genes like me logo Genes that share pathways with EBF1: view

Pathways by source for EBF1 Gene

1 BioSystems pathway for EBF1 Gene

SIGNOR curated interactions for EBF1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for EBF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with EBF1: view

Drugs & Compounds for EBF1 Gene

No Compound Related Data Available

Transcripts for EBF1 Gene

mRNA/cDNA for EBF1 Gene

15 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EBF1

Alternative Splicing Database (ASD) splice patterns (SP) for EBF1 Gene

No ASD Table

Relevant External Links for EBF1 Gene

GeneLoc Exon Structure for
EBF1

Expression for EBF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EBF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EBF1 Gene

This gene is overexpressed in Adipose - Subcutaneous (x4.7) and Artery - Tibial (x4.4).

Protein differential expression in normal tissues from HIPED for EBF1 Gene

This gene is overexpressed in Blymphocyte (48.0) and Heart (18.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EBF1 Gene



Protein tissue co-expression partners for EBF1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EBF1

SOURCE GeneReport for Unigene cluster for EBF1 Gene:

Hs.573143

Evidence on tissue expression from TISSUES for EBF1 Gene

  • Blood(2.7)
  • Bone marrow(2.4)
  • Lymph node(2.4)
  • Nervous system(2.4)
  • Spleen(2.3)
  • Muscle(2)
  • Heart(2)
genes like me logo Genes that share expression patterns with EBF1: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EBF1 Gene

Orthologs for EBF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for EBF1 Gene

Organism Taxonomy Gene Similarity Type Details
Oppossum
(Monodelphis domestica)
Mammalia EBF1 30
  • 100 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia EBF1 29 30
  • 99.77 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia EBF1 30
  • 96 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia EBF1 29 30
  • 95.94 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EBF1 29 30
  • 95.43 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ebf1 29
  • 94.29 (n)
Mouse
(Mus musculus)
Mammalia Ebf1 29 16 30
  • 94.08 (n)
OneToOne
Chicken
(Gallus gallus)
Aves EBF1 29 30
  • 86.63 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 97 (a)
OneToMany
-- 30
  • 78 (a)
OneToMany
-- 30
  • 56 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ebf1 29
  • 81.44 (n)
Zebrafish
(Danio rerio)
Actinopterygii EBF1 (3 of 3) 30
  • 88 (a)
OneToMany
ebf1b 30
  • 88 (a)
OneToMany
ebf1a 29 30
  • 79.08 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta kn 30
  • 52 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea unc-3 29 30
  • 64.11 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 54 (a)
OneToMany
Species where no ortholog for EBF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for EBF1 Gene

ENSEMBL:
Gene Tree for EBF1 (if available)
TreeFam:
Gene Tree for EBF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EBF1: view image
Alliance of Genome Resources:
Additional Orthologs for EBF1

Paralogs for EBF1 Gene

Paralogs for EBF1 Gene

(4) SIMAP similar genes for EBF1 Gene using alignment to 2 proteins:

  • COE1_HUMAN
  • E5RFQ1_HUMAN
genes like me logo Genes that share paralogs with EBF1: view

Variants for EBF1 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for EBF1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for EBF1 Gene

Variant ID Type Subtype PubMed ID
dgv153e180 CNV loss 20482838
esv2730966 CNV deletion 23290073
esv2730967 CNV deletion 23290073
esv2730968 CNV deletion 23290073
esv3391123 CNV duplication 20981092
esv3570523 CNV loss 25503493
esv3607333 CNV gain 21293372
esv3607335 CNV loss 21293372
esv6691 CNV gain 19470904
esv999938 CNV deletion 20482838
nsv1073508 CNV deletion 25765185
nsv1112887 CNV deletion 24896259
nsv1126067 CNV deletion 24896259
nsv5093 CNV insertion 18451855
nsv5094 CNV insertion 18451855
nsv524803 CNV loss 19592680
nsv526407 CNV loss 19592680
nsv830528 CNV gain 17160897
nsv950433 CNV deletion 24416366

Variation tolerance for EBF1 Gene

Residual Variation Intolerance Score: 7.16% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.32; 26.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EBF1 Gene

Human Gene Mutation Database (HGMD)
EBF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EBF1
Leiden Open Variation Database (LOVD)
EBF1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EBF1 Gene

Disorders for EBF1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for EBF1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
plasmacytoma
  • myeloma - solitary
b-lymphoblastic leukemia/lymphoma with etv6-runx1
  • b-all with etv6-runx1
b-lymphoblastic leukemia/lymphoma with iamp21
  • b-all with iamp21
leukemia, acute lymphoblastic
  • all
- elite association - COSMIC cancer census association via MalaCards
Search EBF1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EBF1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with EBF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EBF1 Gene

Publications for EBF1 Gene

  1. Cloning of human early B-cell factor and identification of target genes suggest a conserved role in B-cell development in man and mouse. (PMID: 10942392) Gisler R … Sigvardsson M (Blood 2000) 2 3 4 22
  2. Early hematopoietic zinc finger protein (EHZF), the human homolog to mouse Evi3, is highly expressed in primitive human hematopoietic cells. (PMID: 14630787) Bond HM … Venuta S (Blood 2004) 3 4 22
  3. 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. (PMID: 8012110) Milatovich A … Francke U (Mammalian genome : official journal of the International Mammalian Genome Society 1994) 2 3 22
  4. Induction of Epstein-Barr Virus Oncoprotein LMP1 by Transcription Factors AP-2 and Early B Cell Factor. (PMID: 26819314) Murata T … Kimura H (Journal of virology 2016) 3 4
  5. 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. (PMID: 20592035) Siponen MI … Berglund H (The Journal of biological chemistry 2010) 3 4

Products for EBF1 Gene

Sources for EBF1 Gene