Aliases for E2F1 Gene
Aliases for E2F1 Gene
External Ids for E2F1 Gene
- HGNC: 3113
- Entrez Gene: 1869
- Ensembl: ENSG00000101412
- OMIM: 189971
- UniProtKB: Q01094
Previous HGNC Symbols for E2F1 Gene
- RBBP3
Previous GeneCards Identifiers for E2F1 Gene
- GC20M032022
- GC20M031981
- GC20M032931
- GC20M032979
- GC20M031727
- GC20M032263
- GC20M029049
Summaries 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 MAPK Signaling: Mitogen Stimulation Pathway and Cellular Senescence. 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 E2F3.
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).
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
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around E2F1 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the E2F1 gene promoter:
Regulatory Element Products
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:
-
- 20q11.22 by Ensembl
- 20q11.22 by Entrez Gene
- 20q11.22 by HGNC
E2F1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression 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:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for E2F1
- R&D Systems Antibodies for E2F1 (E2F-1)
- Cell Signaling Technology (CST) Antibodies for E2F1 (E2F1)
-
Custom Antibody ServicesOriGene Antibodies for E2F1
- Novus Biologicals Antibodies for E2F1
- Invitrogen Antibodies for E2F1
- antibodies-online Antibodies for E2F1: See all 359
- GeneTex E2F1 antibody for E2F1
-
Santa Cruz Biotechnology (SCBT) Antibodies for E2F1
Protein Products
-
OriGene Purified Proteins for E2F1
- Search Origene for MassSpec and Protein Over-expression Lysates for E2F1
- Origene Custom Protein Services for E2F1
- antibodies-online Proteins for E2F1: See all 6
- Search antibodies-online for peptides
- Search GeneTex for Proteins for E2F1
Assay Products
- antibodies-online Kits for E2F1: See all 18
No data available for DME Specific Peptides for E2F1 Gene
Domains & Families for E2F1 Gene
Gene Families for E2F1 Gene
Protein Domains for E2F1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for E2F1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q01094- Family:
-
- Belongs to the E2F/DP family.
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).
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001047 | core promoter binding | IDA | 15735762 |
| GO:0003677 | DNA binding | IMP | 11418595 |
| GO:0003700 | transcription factor activity, sequence-specific DNA binding | TAS | 11418595 |
| GO:0005515 | protein binding | IPI | 8657141 |
| GO:0008134 | transcription factor binding | IPI | 16360038 |
Phenotypes for E2F1 Gene
- MGI mutant phenotypes for E2F1:
-
inferred from 3 alleles
- mortality/aging
- cellular phenotype
- behavior/neurological phenotype
- normal phenotype
- growth/size/body region phenotype
- immune system phenotype
- muscle phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- cardiovascular system phenotype
- respiratory system phenotype
- digestive/alimentary phenotype
- neoplasm
- reproductive system phenotype
- endocrine/exocrine gland phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- integument phenotype
- skeleton phenotype
- embryo phenotype
- hematopoietic system phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for E2F1:
-
- Increased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased shRNA abundance (Z-score < -2)
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
- Increased transferrin (TF) endocytosis
- Increased shRNA abundance (Z-score > 2)
- Increased G1 DNA content
- Decreased viability
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Decreased influenza A/WSN/33 replication
- Decreased homologous recombination repair frequency
- Decreased viability of wild-type and TP53 knockout cells
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for E2F1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for E2F1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for E2F1 gene
- Search ViGene Biosciences for E2F1
CRISPR Products
-
OriGene CRISPR knockouts for E2F1
-
Santa Cruz Biotechnology (SCBT) CRISPR for E2F1
- GenScript: Design CRISPR guide RNA sequences for E2F1
miRNA for E2F1 Gene
- miRTarBase miRNAs that target E2F1
-
- hsa-mir-20a-5p (MIRT000180)
- hsa-mir-106a-5p (MIRT000374)
- hsa-mir-223-3p (MIRT000632)
- hsa-mir-330-3p (MIRT000718)
- hsa-mir-98-5p (MIRT001124)
- hsa-mir-21-5p (MIRT001191)
- hsa-mir-93-5p (MIRT002472)
- hsa-mir-17-5p (MIRT002935)
- hsa-mir-106b-5p (MIRT003045)
- hsa-mir-205-5p (MIRT003322)
- hsa-mir-23b-3p (MIRT003424)
- hsa-let-7a-5p (MIRT003904)
- hsa-mir-34a-5p (MIRT004821)
- hsa-mir-126-3p (MIRT005020)
- hsa-mir-149-3p (MIRT005356)
- hsa-mir-203a-3p (MIRT006039)
- hsa-mir-331-3p (MIRT006506)
- hsa-mir-362-3p (MIRT007349)
- hsa-mir-193b-3p (MIRT016529)
- hsa-mir-130b-3p (MIRT020292)
- hsa-mir-24-3p (MIRT030626)
- hsa-mir-181b-5p (MIRT035553)
- hsa-mir-10a-5p (MIRT047521)
- hsa-mir-4283 (MIRT083347)
- hsa-mir-6846-5p (MIRT083357)
- hsa-mir-6848-5p (MIRT083358)
- hsa-mir-4685-5p (MIRT083373)
- hsa-mir-6837-5p (MIRT083385)
- hsa-mir-7113-5p (MIRT083388)
- hsa-mir-3158-5p (MIRT153017)
- hsa-mir-329-3p (MIRT438107)
- hsa-mir-3678-3p (MIRT511990)
- hsa-mir-6829-5p (MIRT511991)
- hsa-mir-2467-3p (MIRT511992)
- hsa-mir-6798-5p (MIRT511993)
- hsa-mir-6805-5p (MIRT511994)
- hsa-mir-211-3p (MIRT511995)
- hsa-mir-4446-3p (MIRT511996)
- hsa-mir-7845-5p (MIRT511997)
- hsa-mir-519d-3p (MIRT727823)
- hsa-mir-20b-5p (MIRT727824)
Transcription Factor Targets for E2F1 Gene
Targeted motifs for E2F1 Gene
HOMER Transcription Factor Regulatory Elements motif E2F1
- Consensus sequence: CWGGCGGGAA Submotif: canonical Cell Type: Hela GEO ID: GSE22478
miRNA Products
- Search ViGene Biosciences for E2F1
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for E2F1
- Browse OriGene Inhibitory RNA Products For E2F1
-
ViGene Biosciences ready-to-package AAV shRNAs for E2F1 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for E2F1
- VectorBuilder custom plasmid, inducible vectors for E2F1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for E2F1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for E2F1
-
ViGene Biosciences adenoviral particle packaged cDNA for E2F1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for E2F1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for E2F1 gene
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-12108) for E2F1
No data available for Enzyme Numbers (IUBMB) and Human Phenotype Ontology for E2F1 Gene
Localization for E2F1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for E2F1 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytoskeleton | 4 |
| mitochondrion | 3 |
| cytosol | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000790 | nuclear chromatin | IDA | 21454377 |
| GO:0005634 | nucleus | IEA,IDA | 12717439 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005667 | transcription factor complex | IEA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
Pathways & Interactions for E2F1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | CDK-mediated phosphorylation and removal of Cdc6 |
.93
.80
|
.31
|
| 2 | Glioma |
.47
.41
.37
|
.36
|
| 3 | Cyclins and Cell Cycle Regulation |
.31
|
|
| 4 | Activation of BH3-only proteins | ||
| 5 | E2F mediated regulation of DNA replication | ||
Pathways by source for E2F1 Gene
1 Cell Signaling Technology pathway for E2F1 Gene
23 BioSystems pathways for E2F1 Gene
38 Reactome pathways for E2F1 Gene
16 KEGG pathways for E2F1 Gene
8 GeneGo (Thomson Reuters) pathways for E2F1 Gene
2 R&D Systems pathways for E2F1 Gene
15 Qiagen pathways for E2F1 Gene
Interacting Proteins for E2F1 Gene
Selected Interacting proteins:
Q01094-E2F1_HUMAN
ENSP00000345571
for E2F1 Gene via
MINT
IID
STRING
UniProtKB
SIGNOR curated interactions 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 |
Drugs & Compounds for E2F1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| HLM006474 | Pharma | E2F inhibitor | 0 |
| 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 |
Drug Products
- ApexBio compounds for E2F1
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
CRISPR Products
-
OriGene CRISPR knockouts for E2F1
-
Santa Cruz Biotechnology (SCBT) CRISPR for E2F1
- GenScript: Design CRISPR guide RNA sequences for E2F1
miRNA Products
- Search ViGene Biosciences for E2F1
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for E2F1
- Browse OriGene Inhibitory RNA Products For E2F1
-
ViGene Biosciences ready-to-package AAV shRNAs for E2F1 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for E2F1
- VectorBuilder custom plasmid, inducible vectors for E2F1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for E2F1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-12108) for E2F1
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||
| SP2: | - |
Expression 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:
E2F1SOURCE GeneReport for Unigene cluster for E2F1 Gene:
Hs.654393Evidence on tissue expression from TISSUES for E2F1 Gene
- Skin(4.3)
- Pancreas(4.1)
- Nervous system(2.2)
Primer Products
-
OriGene qPCR primer pairs for E2F1
-
OriGene qPCR primer pairs and template standards for E2F1
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | E2F1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | E2F1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | E2F1 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | E2f1 34 |
|
||
| mouse (Mus musculus) |
Mammalia | E2f1 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | E2F1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | E2F1 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | E2F1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | e2f1 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC101885420 34 |
|
||
| E2F1 35 |
|
OneToOne | |||
| fruit fly (Drosophila melanogaster) |
Insecta | E2f 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | efl-2 35 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
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)
Paralogs for E2F1 Gene
Variants 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 |
| 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for E2F1 Gene
Disorders for E2F1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| retinoblastoma |
|
|
| pharyngoconjunctival fever |
|
|
| pediatric systemic lupus erythematosus |
|
|
| retinal cancer |
|
|
| sensory system cancer |
|
|
Search E2F1 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for E2F1
No data available for UniProtKB/Swiss-Prot and Genatlas for E2F1 Gene
Publications for E2F1 Gene
- Regulation of E2F1 by BRCT domain-containing protein TopBP1. (PMID: 12697828) Liu K. … Lin W.-C. (Mol. Cell. Biol. 2003) 3 4 22 64
- Chk2 activates E2F-1 in response to DNA damage. (PMID: 12717439) Stevens C. … La Thangue N.B. (Nat. Cell Biol. 2003) 3 4 22 64
- Structure and partial genomic sequence of the human E2F1 gene. (PMID: 8964493) Neuman E. … Kaelin W.G. Jr. (Gene 1996) 2 3 4 64
- Phosphorylation of E2F-1 by cyclin A-cdk2. (PMID: 7838523) Kitagawa M. … Okuyama A. (Oncogene 1995) 3 4 22 64
- 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. (Mol. Cell. Biol. 1994) 3 4 22 64
Products for E2F1 Gene
- R&D Systems Antibodies for E2F1 (E2F-1)
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for E2F1
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for E2F1
- Search Origene for MassSpec and Protein Over-expression Lysates for E2F1
- Origene Custom Protein Services for E2F1
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for E2F1
- Browse OriGene Inhibitory RNA Products For E2F1
- OriGene qPCR primer pairs and template standards for E2F1
- OriGene qPCR primer pairs for E2F1
- OriGene CRISPR knockouts for E2F1
- OriGene ORF clones in human for E2F1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For E2F1
- GenScript: Next-day shipping cDNA ORF clone for E2F1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for E2F1
- GenScript Custom Assay Services for E2F1
- GenScript Custom overexpressing Cell Line Services for E2F1
- GenScript: Design CRISPR guide RNA sequences for E2F1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for E2F1
- Cell Signaling Technology (CST) Antibodies for E2F1 (E2F1)
- Search for Antibodies & Assays
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Proteins
- Sino Biological Antibodies
- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
- Sino Biological qPCR Primers
- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for E2F1
- Novus Biologicals proteins and lysates for E2F1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Invitrogen Antibodies for E2F1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- ApexBio compounds for E2F1
- Addgene plasmids for E2F1
- antibodies-online Antibodies for E2F1: See all 359
- antibodies-online Kits for E2F1: See all 18
- antibodies-online Proteins for E2F1: See all 6
- Search antibodies-online for peptides
- GeneTex E2F1 antibody for E2F1
- Search GeneTex for Proteins for E2F1
- ViGene Biosciences adenoviral particle packaged cDNA for E2F1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for E2F1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for E2F1 gene
- Search ViGene Biosciences for E2F1
- Santa Cruz Biotechnology (SCBT) Antibodies for E2F1
- Search Santa Cruz Biotechnology (SCBT) for E2F1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for E2F1
- Horizon Cell Lines for E2F1
- Cyagen custom Knockout/knockin (KOKI) mouse models for E2F1
- VectorBuilder custom plasmid, inducible vectors for E2F1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for E2F1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for E2F1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer