Human Gene E2F1 (ENST00000343380.6_7) from GENCODE V47lift37
  Description: E2F transcription factor 1 (from RefSeq NM_005225.3)
Gencode Transcript: ENST00000343380.6_7
Gencode Gene: ENSG00000101412.13_9
Transcript (Including UTRs)
   Position: hg19 chr20:32,263,283-32,274,191 Size: 10,909 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr20:32,264,538-32,274,070 Size: 9,533 Coding Exon Count: 7 

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Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:32,263,283-32,274,191)mRNA (may differ from genome)Protein (437 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: E2F1_HUMAN
DESCRIPTION: RecName: Full=Transcription factor E2F1; Short=E2F-1; AltName: Full=PBR3; AltName: Full=Retinoblastoma-associated protein 1; Short=RBAP-1; AltName: Full=Retinoblastoma-binding protein 3; Short=RBBP-3; AltName: Full=pRB-binding protein E2F-1;
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.
ENZYME REGULATION: BIRC2/c-IAP1 stimulates its transcriptional activity.
SUBUNIT: 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). Interacts with human cytomegalovirus/HHV-5 protein UL123.
INTERACTION: Q92466:DDB2; NbExp=2; IntAct=EBI-448924, EBI-1176171; Q9Y618:NCOR2; NbExp=2; IntAct=EBI-448924, EBI-80830; P09874:PARP1; NbExp=2; IntAct=EBI-448924, EBI-355676; P06400:RB1; NbExp=10; IntAct=EBI-448924, EBI-491274; Q96EB6:SIRT1; NbExp=3; IntAct=EBI-448924, EBI-1802965; Q923E4:Sirt1 (xeno); NbExp=3; IntAct=EBI-448924, EBI-1802585; P08047:SP1; NbExp=2; IntAct=EBI-448924, EBI-298336; P42224:STAT1; NbExp=2; IntAct=EBI-448924, EBI-1057697; O95361:TRIM16; NbExp=2; IntAct=EBI-448924, EBI-727384;
SUBCELLULAR LOCATION: Nucleus.
PTM: 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.
PTM: 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.
SIMILARITY: Belongs to the E2F/DP family.
SEQUENCE CAUTION: Sequence=AAB24289.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/E2F1ID40382ch20q11.html";
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/e2f1/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: E2F1
Diseases sorted by gene-association score: retinoblastoma (35), pharyngoconjunctival fever (8), pediatric systemic lupus erythematosus (7), lung cancer (6), retinal cancer (5), sensory system cancer (5), osteochondroma (3), prostate cancer (3), breast cancer (2), colorectal cancer (2), ocular cancer (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 17.60 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 133.08 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -68.10121-0.563 Picture PostScript Text
3' UTR -522.301255-0.416 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR015633 - E2F
IPR003316 - E2F_TDP
IPR011991 - WHTH_trsnscrt_rep_DNA-bd

Pfam Domains:
PF02319 - E2F/DP family winged-helix DNA-binding domain
PF16421 - E2F transcription factor CC-MB domain

SCOP Domains:
46785 - "Winged helix" DNA-binding domain
144074 - E2F-DP heterodimerization region

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1H24 - X-ray 1O9K - X-ray 2AZE - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q01094
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001047 core promoter binding
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0019901 protein kinase binding
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding
GO:0046983 protein dimerization activity

Biological Process:
GO:0000077 DNA damage checkpoint
GO:0000083 regulation of transcription involved in G1/S transition of mitotic cell cycle
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006915 apoptotic process
GO:0006977 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest
GO:0007049 cell cycle
GO:0007283 spermatogenesis
GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage
GO:0010628 positive regulation of gene expression
GO:0030900 forebrain development
GO:0043065 positive regulation of apoptotic process
GO:0043276 anoikis
GO:0043392 negative regulation of DNA binding
GO:0045599 negative regulation of fat cell differentiation
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048146 positive regulation of fibroblast proliferation
GO:0048255 mRNA stabilization
GO:0051726 regulation of cell cycle
GO:0070317 negative regulation of G0 to G1 transition
GO:0070345 negative regulation of fat cell proliferation
GO:0071398 cellular response to fatty acid
GO:0071456 cellular response to hypoxia
GO:0071466 cellular response to xenobiotic stimulus
GO:0071930 negative regulation of transcription involved in G1/S transition of mitotic cell cycle
GO:0072332 intrinsic apoptotic signaling pathway by p53 class mediator
GO:1900740 positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway
GO:1990086 lens fiber cell apoptotic process
GO:1990090 cellular response to nerve growth factor stimulus
GO:2000045 regulation of G1/S transition of mitotic cell cycle

Cellular Component:
GO:0000790 nuclear chromatin
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription factor complex
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005813 centrosome
GO:0032991 macromolecular complex
GO:0035189 Rb-E2F complex


-  Descriptions from all associated GenBank mRNAs
  BC005098 - Homo sapiens, Similar to E2F transcription factor 1, clone IMAGE:3510651, mRNA, partial cds.
BC050369 - Homo sapiens E2F transcription factor 1, mRNA (cDNA clone MGC:51826 IMAGE:6025053), complete cds.
BC058902 - Homo sapiens E2F transcription factor 1, mRNA (cDNA clone MGC:64963 IMAGE:6055344), complete cds.
BC065188 - Homo sapiens cDNA clone IMAGE:6267068, **** WARNING: chimeric clone ****.
S49592 - transcription factor E2F like protein [human, mRNA, 2492 nt].
M96577 - Homo sapiens (E2F-1) pRB-binding protein mRNA, complete cds.
JD130046 - Sequence 111070 from Patent EP1572962.
JD338379 - Sequence 319403 from Patent EP1572962.
JD268593 - Sequence 249617 from Patent EP1572962.
JD132155 - Sequence 113179 from Patent EP1572962.
JD190587 - Sequence 171611 from Patent EP1572962.
JD270643 - Sequence 251667 from Patent EP1572962.
JD157234 - Sequence 138258 from Patent EP1572962.
JD456800 - Sequence 437824 from Patent EP1572962.
JD162820 - Sequence 143844 from Patent EP1572962.
JD278096 - Sequence 259120 from Patent EP1572962.
JD492460 - Sequence 473484 from Patent EP1572962.
JD104242 - Sequence 85266 from Patent EP1572962.
JD435619 - Sequence 416643 from Patent EP1572962.
JD083981 - Sequence 65005 from Patent EP1572962.
JD519617 - Sequence 500641 from Patent EP1572962.
JD450335 - Sequence 431359 from Patent EP1572962.
JD430865 - Sequence 411889 from Patent EP1572962.
JD498865 - Sequence 479889 from Patent EP1572962.
JD283126 - Sequence 264150 from Patent EP1572962.
JD495945 - Sequence 476969 from Patent EP1572962.
AF086380 - Homo sapiens full length insert cDNA clone ZD69C02.
JD202275 - Sequence 183299 from Patent EP1572962.
JD026142 - Sequence 7166 from Patent EP1572962.
JD030786 - Sequence 11810 from Patent EP1572962.
JD333966 - Sequence 314990 from Patent EP1572962.
JD532062 - Sequence 513086 from Patent EP1572962.
JD032636 - Sequence 13660 from Patent EP1572962.
JD361370 - Sequence 342394 from Patent EP1572962.
JD426426 - Sequence 407450 from Patent EP1572962.
JD509403 - Sequence 490427 from Patent EP1572962.
JC506870 - Sequence 238 from Patent EP2733220.
JC737982 - Sequence 238 from Patent WO2014075939.
AB590894 - Synthetic construct DNA, clone: pFN21AB7743, Homo sapiens E2F1 gene for E2F transcription factor 1, without stop codon, in Flexi system.
JD129048 - Sequence 110072 from Patent EP1572962.
JD458531 - Sequence 439555 from Patent EP1572962.
JD389916 - Sequence 370940 from Patent EP1572962.
JD191918 - Sequence 172942 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_cellcyclePathway - Cyclins and Cell Cycle Regulation
h_RacCycDPathway - Influence of Ras and Rho proteins on G1 to S Transition
h_il2rbPathway - IL-2 Receptor Beta Chain in T cell Activation
h_fbw7Pathway - Cyclin E Destruction Pathway
h_p27Pathway - Regulation of p27 Phosphorylation during Cell Cycle Progression
h_p53Pathway - p53 Signaling Pathway
h_etsPathway - METS affect on Macrophage Differentiation
h_arfPathway - Tumor Suppressor Arf Inhibits Ribosomal Biogenesis
h_g1Pathway - Cell Cycle: G1/S Check Point
h_skp2e2fPathway - E2F1 Destruction Pathway

Reactome (by CSHL, EBI, and GO)

Protein Q01094 (Reactome details) participates in the following event(s):

R-HSA-113643 Replication initiation regulation by Rb1/E2F1
R-HSA-4331324 E2F1 binds BBC3 (PUMA) promoter
R-HSA-4331327 E2F1 binds PMAIP1 (NOXA) promoter
R-HSA-8961620 E2F1 binds the CDC6 gene promoter
R-HSA-8961636 E2F1 binds the POLA1 gene promoter
R-HSA-8961651 E2F1 binds the PCNA gene promoter
R-HSA-8961671 E2F1 binds the ORC1 gene promoter
R-HSA-8961688 E2F1 binds the FBXO5 gene promoter
R-HSA-8961840 E2F1 binds the CCNE1 gene promoter
R-HSA-8961863 E2F1 binds the DHFR gene promoter
R-HSA-8961888 E2F1 binds the CCNA1 gene promoter
R-HSA-8961907 E2F1 binds the CDC45 gene promoter
R-HSA-8961920 E2F1 binds the CDK1 gene promoter
R-HSA-8961946 E2F1 binds the CDT1 gene promoter
R-HSA-8961961 E2F1 binds the CDC25A gene promoter
R-HSA-8961972 E2F1 binds the RRM2 gene promoter
R-HSA-8961991 E2F1 binds the TK1 gene promoter
R-NUL-8963657 E2F1 binds the Tk1 gene promoter
R-HSA-9007514 E2F1 binds APAF1 gene promoter
R-HSA-9007561 E2F1 binds RAD51 gene promoter
R-HSA-187937 Association of Cyclin A:phospho-Cdk2(Thr 160) with E2F1/E2F3
R-HSA-3209096 E2F1, E2F2, or E2F3 and SP1 bind p14-ARF promoter
R-HSA-3240765 E2F1/2/3:DP1/2 binds EED gene promoter
R-HSA-3240766 E2F1/2/3:DP1/2 binds SUZ12 gene promoter
R-HSA-3240777 E2F1/2/3:DP1/2 binds EZH2 gene promoter
R-HSA-9018017 RB1 binds and inhibits E2F1/2/3:DP1/2 complexes
R-HSA-187959 Phosphorylation of E2F1/E2F3 by Cyclin A:phosph-Cdk2(Thr 160)
R-HSA-4395231 E2F1/3:DP1/2 binds NOTCH1 promoter
R-HSA-6804116 TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest
R-HSA-8953750 Transcriptional Regulation by E2F6
R-HSA-1362277 Transcription of E2F targets under negative control by DREAM complex
R-HSA-1362300 Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL2) in complex with HDAC1
R-HSA-113501 Inhibition of replication initiation of damaged DNA by RB1/E2F1
R-HSA-139915 Activation of PUMA and translocation to mitochondria
R-HSA-111448 Activation of NOXA and translocation to mitochondria
R-HSA-539107 Activation of E2F1 target genes at G1/S
R-HSA-68911 G2 Phase
R-HSA-6791312 TP53 Regulates Transcription of Cell Cycle Genes
R-HSA-212436 Generic Transcription Pathway
R-HSA-1538133 G0 and Early G1
R-HSA-113510 E2F mediated regulation of DNA replication
R-HSA-114452 Activation of BH3-only proteins
R-HSA-69205 G1/S-Specific Transcription
R-HSA-2559585 Oncogene Induced Senescence
R-HSA-2559580 Oxidative Stress Induced Senescence
R-HSA-69231 Cyclin D associated events in G1
R-HSA-1912408 Pre-NOTCH Transcription and Translation
R-HSA-453274 Mitotic G2-G2/M phases
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-453279 Mitotic G1-G1/S phases
R-HSA-69206 G1/S Transition
R-HSA-109606 Intrinsic Pathway for Apoptosis
R-HSA-2559583 Cellular Senescence
R-HSA-69236 G1 Phase
R-HSA-1912422 Pre-NOTCH Expression and Processing
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-74160 Gene expression (Transcription)
R-HSA-109581 Apoptosis
R-HSA-2262752 Cellular responses to stress
R-HSA-157118 Signaling by NOTCH
R-HSA-1640170 Cell Cycle
R-HSA-5357801 Programmed Cell Death
R-HSA-8953897 Cellular responses to external stimuli
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: E2F1 , E2F1_HUMAN, ENST00000343380.1, ENST00000343380.2, ENST00000343380.3, ENST00000343380.4, ENST00000343380.5, NM_005225, Q01094, Q13143, Q92768, RBBP3 , uc317wqf.1, uc317wqf.2
UCSC ID: ENST00000343380.6_7
RefSeq Accession: NM_005225.3
Protein: Q01094 (aka E2F1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.