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Aliases for E2F1 Gene

Aliases for E2F1 Gene

  • E2F Transcription Factor 1 2 3 5
  • Retinoblastoma-Associated Protein 1 3 4
  • Retinoblastoma-Binding Protein 3 3 4
  • PRB-Binding Protein E2F-1 3 4
  • RBAP-1 3 4
  • RBBP-3 3 4
  • RBBP3 3 4
  • E2F-1 3 4
  • PBR3 3 4
  • Transcription Factor E2F1 3
  • RBAP1 3
  • RBP3 3

External Ids for E2F1 Gene

Previous HGNC Symbols for E2F1 Gene

  • RBBP3

Previous GeneCards Identifiers for E2F1 Gene

  • GC20M032022
  • GC20M031981
  • GC20M032931
  • GC20M032979
  • GC20M031727
  • GC20M032263
  • GC20M029049

Summaries for E2F1 Gene

Entrez Gene Summary for E2F1 Gene

  • The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein and another 2 members, E2F2 and E2F3, have an additional cyclin binding domain. This protein binds preferentially to retinoblastoma protein pRB in a cell-cycle dependent manner. It can mediate both cell proliferation and p53-dependent/independent apoptosis. [provided by RefSeq, Jul 2008]

GeneCards Summary for E2F1 Gene

E2F1 (E2F Transcription Factor 1) is a Protein Coding gene. Diseases associated with E2F1 include Retinoblastoma and Pharyngoconjunctival Fever. Among its related pathways are DNA Damage and IL-2 Pathway. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription factor binding. An important paralog of this gene is E2F2.

UniProtKB/Swiss-Prot for E2F1 Gene

  • Transcription activator that binds DNA cooperatively with DP proteins through the E2 recognition site, 5-TTTC[CG]CGC-3 found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in DNA replication. The DRTF1/E2F complex functions in the control of cell-cycle progression from G1 to S phase. E2F1 binds preferentially RB1 in a cell-cycle dependent manner. It can mediate both cell proliferation and TP53/p53-dependent apoptosis. Blocks adipocyte differentiation by binding to specific promoters repressing CEBPA binding to its target gene promoters (PubMed:20176812).

Gene Wiki entry for E2F1 Gene

Additional gene information for E2F1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for E2F1 Gene

Genomics for E2F1 Gene

Regulatory Elements for E2F1 Gene

Enhancers for E2F1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20H033672 1.3 ENCODE dbSUPER 7.6 +12.0 12047 4 ARID4B SIN3A DMAP1 ZNF2 SP3 MXD4 ZNF592 KAT8 SSRP1 MIER3 CBFA2T2 PXMP4 ZNF341 ENSG00000229188 E2F1 ZNF341-AS1 ASIP NECAB3 ACTL10
GH20H033567 1.4 Ensembl ENCODE dbSUPER 6.4 +117.0 116958 3 PKNOX1 FOXA2 ATF1 RAD21 RARA ETS1 SCRT2 RCOR1 RUNX3 THAP11 CBFA2T2 C20orf144 ACTL10 NECAB3 SNTA1 E2F1 GC20P033562 GC20M033592
GH20H033665 1 ENCODE 8.3 +19.3 19274 3 HDGF PKNOX1 ATF1 SIN3A ZNF2 YY1 ZNF143 ATF7 DEK ZNF202 CDK5RAP1 CBFA2T2 DNMT3B ZNF341-AS1 ENSG00000272945 E2F1 CHMP4B ACTL10 NECAB3
GH20H033777 1.4 FANTOM5 Ensembl ENCODE 5.9 -92.6 -92641 2 HDGF PKNOX1 FOXA2 TBL1XR1 RB1 BMI1 BATF ZNF143 ZNF207 ATF7 CHMP4B ZNF341-AS1 ZNF341 ENSG00000229188 PXMP4 E2F1 BPIFA2 GC20M033791 RPL31P2
GH20H033677 1 ENCODE dbSUPER 7.3 +7.2 7235 2 PKNOX1 TAL1 EBF1 RELA TCF12 ZNF316 POLR2A SCRT2 ATF7 RUNX3 E2F1 SNTA1 ZNF341-AS1 ENSG00000271803
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around E2F1 on UCSC Golden Path with GeneCards custom track

Promoters for E2F1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000136288 104 1001 HDGF MLX ARID4B SIN3A DMAP1 SLC30A9 ZNF143 FOS SP3 SP5

Genomic Location for E2F1 Gene

Chromosome:
20
Start:
33,675,486 bp from pter
End:
33,686,404 bp from pter
Size:
10,919 bases
Orientation:
Minus strand

Genomic View for E2F1 Gene

Genes around E2F1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
E2F1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for E2F1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for E2F1 Gene

Proteins for E2F1 Gene

  • Protein details for E2F1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01094-E2F1_HUMAN
    Recommended name:
    Transcription factor E2F1
    Protein Accession:
    Q01094
    Secondary Accessions:
    • Q13143
    • Q92768

    Protein attributes for E2F1 Gene

    Size:
    437 amino acids
    Molecular mass:
    46920 Da
    Quaternary structure:
    • Component of the DRTF1/E2F transcription factor complex. Forms heterodimers with DP family members. The E2F1 complex binds specifically hypophosphorylated retinoblastoma protein RB1. During the cell cycle, RB1 becomes phosphorylated in mid-to-late G1 phase, detaches from the DRTF1/E2F complex, rendering E2F transcriptionally active. Viral oncoproteins, notably E1A, T-antigen and HPV E7, are capable of sequestering RB1, thus releasing the active complex. Interacts with TRRAP, which probably mediates its interaction with histone acetyltransferase complexes, leading to transcription activation. Binds TOPBP1 and EAPP. Interacts with ARID3A. Interacts with TRIM28; the interaction inhibits E2F1 acetylation through recruiting HDAC1 and represses its transcriptional activity. Interaction with KAT2B; the interaction acetylates E2F1 enhancing its DNA-binding and transcriptional activity. Interacts with BIRC2/c-IAP1 (via BIR domains). The complex TFDP1:E2F1 interacts with CEBPA; the interaction prevents CEBPA binding to target genes promoters and represses its transcriptional activity (PubMed:20176812). Interacts with human cytomegalovirus/HHV-5 protein UL123.
    SequenceCaution:
    • Sequence=AAB24289.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for E2F1 Gene

neXtProt entry for E2F1 Gene

Post-translational modifications for E2F1 Gene

  • Acetylation stimulates DNA-binding. Enhanced under stress conditions such as DNA damage and inhibited by retinoblastoma protein RB1. Regulated by KAP1/TRIM28 which recruits HDAC1 to E2F1 resulting in deacetylation. Acetylated by P/CAF/KAT2B.
  • Phosphorylated by CDK2 and cyclin A-CDK2 in the S-phase. Phosphorylation at Ser-364 by CHEK2 stabilizes E2F1 upon DNA damage and regulates its effect on transcription and apoptosis.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for E2F1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for E2F1 Gene

Domains & Families for E2F1 Gene

Gene Families for E2F1 Gene

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

Suggested Antigen Peptide Sequences for E2F1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q01094

UniProtKB/Swiss-Prot:

E2F1_HUMAN :
  • Belongs to the E2F/DP family.
Family:
  • Belongs to the E2F/DP family.
genes like me logo Genes that share domains with E2F1: view

Function for E2F1 Gene

Molecular function for E2F1 Gene

GENATLAS Biochemistry:
transcription factor E2F1,involved in cell proliferation and apoptosis,controlling genes regulating S phase entry and DNA synthesis,downregulated in post-mitotic neurons by interaction with NDN and proteolysis through the ubiquitin-proteasome pathway
UniProtKB/Swiss-Prot EnzymeRegulation:
BIRC2/c-IAP1 stimulates its transcriptional activity.
UniProtKB/Swiss-Prot Function:
Transcription activator that binds DNA cooperatively with DP proteins through the E2 recognition site, 5-TTTC[CG]CGC-3 found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in DNA replication. The DRTF1/E2F complex functions in the control of cell-cycle progression from G1 to S phase. E2F1 binds preferentially RB1 in a cell-cycle dependent manner. It can mediate both cell proliferation and TP53/p53-dependent apoptosis. Blocks adipocyte differentiation by binding to specific promoters repressing CEBPA binding to its target gene promoters (PubMed:20176812).

Gene Ontology (GO) - Molecular Function for E2F1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001047 core promoter binding IDA 15735762
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding IC --
GO:0003677 DNA binding IMP 11418595
GO:0003700 transcription factor activity, sequence-specific DNA binding TAS 11418595
GO:0005515 protein binding IPI 8657141
genes like me logo Genes that share ontologies with E2F1: view
genes like me logo Genes that share phenotypes with E2F1: view

Animal Models for E2F1 Gene

MGI Knock Outs for E2F1:

Animal Model Products

CRISPR Products

Transcription Factor Targets for E2F1 Gene

Selected GeneGlobe predicted Target genes for E2F1
Targeted motifs for E2F1 Gene
HOMER Transcription Factor Regulatory Elements motif E2F1
  • Consensus sequence: CWGGCGGGAA Submotif: canonical Cell Type: Hela GEO ID: GSE22478

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for E2F1
  • Applied Biological Materials Clones for E2F1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog and Human Phenotype Ontology for E2F1 Gene

Localization for E2F1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for E2F1 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 E2F1 gene
Compartment Confidence
nucleus 5
cytoskeleton 4
mitochondrion 3
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Centrosome (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for E2F1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IEA,IDA 21454377
GO:0005634 nucleus IEA,IDA 12717439
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with E2F1: view

Pathways & Interactions for E2F1 Gene

genes like me logo Genes that share pathways with E2F1: view

SIGNOR curated interactions for E2F1 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for E2F1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000077 DNA damage checkpoint IMP 12717439
GO:0000083 regulation of transcription involved in G1/S transition of mitotic cell cycle TAS --
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IMP 20224733
GO:0006351 transcription, DNA-templated ISS --
GO:0006355 regulation of transcription, DNA-templated IDA 12717439
genes like me logo Genes that share ontologies with E2F1: view

Drugs & Compounds for E2F1 Gene

(33) Drugs for E2F1 Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
HLM006474 Pharma E2F inhibitor 0

(33) Additional Compounds for E2F1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for E2F1 Gene

Compound Action Cas Number
HLM006474 E2F inhibitor 353519-63-8
genes like me logo Genes that share compounds with E2F1: view

Drug Products

Transcripts for E2F1 Gene

mRNA/cDNA for E2F1 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(140) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for E2F1 Gene

E2F transcription factor 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for E2F1
  • Applied Biological Materials Clones for E2F1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for E2F1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7
SP1:
SP2: -

Relevant External Links for E2F1 Gene

GeneLoc Exon Structure for
E2F1
ECgene alternative splicing isoforms for
E2F1

Expression for E2F1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for E2F1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for E2F1 Gene



NURSA nuclear receptor signaling pathways regulating expression of E2F1 Gene:

E2F1

SOURCE GeneReport for Unigene cluster for E2F1 Gene:

Hs.654393

Evidence on tissue expression from TISSUES for E2F1 Gene

  • Skin(4.3)
  • Pancreas(4.1)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with E2F1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for E2F1 Gene

Orthologs for E2F1 Gene

This gene was present in the common ancestor of animals.

Orthologs for E2F1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia E2F1 33 34
  • 99.54 (n)
dog
(Canis familiaris)
Mammalia E2F1 33 34
  • 90.6 (n)
cow
(Bos Taurus)
Mammalia E2F1 33 34
  • 89.93 (n)
rat
(Rattus norvegicus)
Mammalia E2f1 33
  • 84.34 (n)
mouse
(Mus musculus)
Mammalia E2f1 33 16 34
  • 83.95 (n)
oppossum
(Monodelphis domestica)
Mammalia E2F1 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves E2F1 33 34
  • 70.45 (n)
lizard
(Anolis carolinensis)
Reptilia E2F1 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia e2f1 33
  • 56.73 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC101885420 33
  • 59.57 (n)
E2F1 34
  • 48 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta E2f 34
  • 15 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea efl-2 34
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 30 (a)
OneToMany
Species where no ortholog for E2F1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 E2F1 Gene

ENSEMBL:
Gene Tree for E2F1 (if available)
TreeFam:
Gene Tree for E2F1 (if available)

Paralogs for E2F1 Gene

Paralogs for E2F1 Gene

(2) SIMAP similar genes for E2F1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with E2F1: view

Variants for E2F1 Gene

Sequence variations from dbSNP and Humsavar for E2F1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs864622017 Uncertain significance 33,679,830(-) GCGGC(A/G)CATCT reference, missense
rs1000130244 -- 33,684,356(+) ACAGG(C/T)CCCTG intron-variant
rs1000295629 -- 33,678,601(+) TGACA(C/T)GCCAC intron-variant
rs1000518535 -- 33,684,056(+) GTACA(C/G)TGGGG intron-variant
rs1000962550 -- 33,676,496(+) CGGTA(C/T)ACACG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for E2F1 Gene

Variant ID Type Subtype PubMed ID
nsv1065189 CNV loss 25217958
nsv1072113 CNV deletion 25765185
nsv1143983 CNV deletion 24896259
nsv833960 CNV loss 17160897
nsv833961 CNV loss 17160897
nsv954024 CNV deletion 24416366

Variation tolerance for E2F1 Gene

Residual Variation Intolerance Score: 66.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.63; 45.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for E2F1 Gene

Human Gene Mutation Database (HGMD)
E2F1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
E2F1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for E2F1 Gene

Disorders for E2F1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for E2F1 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
retinoblastoma
  • retinoblastoma, trilateral
pharyngoconjunctival fever
  • adenoviral pharyngoconjunctivitis
pediatric systemic lupus erythematosus
  • sle, pediatric onset
lung cancer
  • lung cancer, protection against
retinal cancer
  • malignant neoplasm of retina
- elite association - COSMIC cancer census association via MalaCards
Search E2F1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for E2F1

Genetic Association Database (GAD)
E2F1
Human Genome Epidemiology (HuGE) Navigator
E2F1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
E2F1
genes like me logo Genes that share disorders with E2F1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for E2F1 Gene

Publications for E2F1 Gene

  1. Chk2 activates E2F-1 in response to DNA damage. (PMID: 12717439) Stevens C … La Thangue NB (Nature cell biology 2003) 3 4 22 60
  2. Regulation of E2F1 by BRCT domain-containing protein TopBP1. (PMID: 12697828) Liu K … Lin WC (Molecular and cellular biology 2003) 3 4 22 60
  3. Structure and partial genomic sequence of the human E2F1 gene. (PMID: 8964493) Neuman E … Kaelin WG (Gene 1996) 2 3 4 60
  4. Phosphorylation of E2F-1 by cyclin A-cdk2. (PMID: 7838523) Kitagawa M … Okuyama A (Oncogene 1995) 3 4 22 60
  5. Cyclin A/CDK2 binds directly to E2F-1 and inhibits the DNA-binding activity of E2F-1/DP-1 by phosphorylation. (PMID: 7969176) Xu M … Piwnica-Worms H (Molecular and cellular biology 1994) 3 4 22 60

Products for E2F1 Gene

  • Addgene plasmids for E2F1

Sources for E2F1 Gene

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