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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]
E2F1 (E2F Transcription Factor 1) is a Protein Coding gene. Diseases associated with E2F1 include Retinoblastoma and Glioblastoma Multiforme. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and E2F transcription factor network. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription factor binding. An important paralog of this gene is E2F3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IMP,ISM | 19274049 |
GO:0000987 | proximal promoter sequence-specific DNA binding | IDA | 15735762 |
GO:0001216 | bacterial-type RNA polymerase transcriptional activator activity, sequence-specific DNA binding | IDA | 17062573 |
GO:0003677 | DNA binding | IBA,IMP | 11418595 |
GO:0003700 | DNA-binding transcription factor activity | IBA,TAS | 11418595 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | IEA,ISA | -- |
GO:0005634 | nucleus | IBA,IDA | 12717439 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005667 | transcription factor complex | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Regulation of activated PAK-2p34 by proteasome mediated degradation |
.93
|
.80
|
2 | Glioma |
.49
.46
|
|
3 | Cyclins and Cell Cycle Regulation |
Cyclins and Cell Cycle Regulation
.67
G1-S Phase Transition
.67
Cell Cycle Control by BTG Proteins
.36
|
.31
|
4 | Activation of BH3-only proteins | ||
5 | E2F mediated regulation of DNA replication |
Cell cycle Start of DNA replication in early S phase
.53
|
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 by RNA polymerase II | IMP | 20224733 |
GO:0006351 | transcription, DNA-templated | IEA,ISS | -- |
GO:0006355 | regulation of transcription, DNA-templated | IDA | 12717439 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||
SP2: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | E2F1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | E2F1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | E2F1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | E2f1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | E2f1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | E2F1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | E2F1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | E2F1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | e2f1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC101885420 30 |
|
||
E2F1 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | E2f 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | efl-2 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
713735 | Benign: not provided | 33,676,909(-) | C/T | SYNONYMOUS_VARIANT | |
719834 | Benign: not provided | 33,677,440(-) | C/T | MISSENSE_VARIANT | |
729545 | Benign: not provided | 33,686,231(-) | A/T | MISSENSE_VARIANT | |
734667 | Benign: not provided | 33,686,031(-) | C/G | SYNONYMOUS_VARIANT | |
741802 | Likely Benign: not provided | 33,677,441(-) | G/A | SYNONYMOUS_VARIANT |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
retinoblastoma |
|
|
glioblastoma multiforme |
|
|
pediatric systemic lupus erythematosus |
|
|
lung cancer |
|
|
bladder cancer |
|