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This gene encodes a member of the ETS family of transcription factors, which are defined by the presence of a conserved ETS DNA-binding domain that recognizes the core consensus DNA sequence GGAA/T in target genes. These proteins function either as transcriptional activators or repressors of numerous genes, and are involved in stem cell development, cell senescence and death, and tumorigenesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]
ETS1 (ETS Proto-Oncogene 1, Transcription Factor) is a Protein Coding gene. Diseases associated with ETS1 include Jacobsen Syndrome and Systemic Lupus Erythematosus. Among its related pathways are ERK Signaling and Neural Crest Differentiation. 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 ETS2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 12119294 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IDA,ISA | -- |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IDA | 15001984 |
GO:0003677 | DNA binding | ISS | -- |
GO:0003700 | DNA-binding transcription factor activity | IDA | 11909962 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000785 | chromatin | ISA | -- |
GO:0005634 | nucleus | IBA,IDA | 11909962 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0042025 | host cell nucleus | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cellular Senescence (REACTOME) | ||
2 | B cell receptor signaling pathway (KEGG) | ||
3 | Angiogenesis (CST) | ||
4 | Cellular senescence (KEGG) | ||
5 | Human T-cell leukemia virus 1 infection |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001666 | response to hypoxia | IEA | -- |
GO:0002376 | immune system process | IEA | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0006366 | transcription by RNA polymerase II | IDA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||
SP3: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ETS1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ETS1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ETS1 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ets1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Ets1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ETS1 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ETS1 30 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ETS1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ETS1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100170599 30 |
|
||
Str.1672 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | ets1a-A-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ets1 30 |
|
||
ETS1 31 |
|
OneToOne | |||
idibd1116 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | pnt 31 32 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs118149282 | Benign: not provided | 128,480,393(-) |
G/A NM_001143820.2(ETS1):c.921C>T (p.Arg307=) |
SYNONYMOUS_VARIANT,INTRON | |
rs142279599 | Uncertain Significance: not specified | 128,485,068(-) |
T/C NM_001143820.2(ETS1):c.617A>G (p.Tyr206Cys) |
MISSENSE_VARIANT,INTRON | |
rs145793592 | Benign: not provided | 128,573,095(-) |
G/A NM_001143820.2(ETS1):c.36C>T (p.Pro12=) |
SYNONYMOUS | |
rs149636924 | Benign: not provided | 128,486,082(-) |
C/T NM_001143820.2(ETS1):c.600G>A (p.Ser200=) |
SYNONYMOUS_VARIANT,INTRON | |
rs1565372210 | Pathogenic: 11q partial monosomy syndrome | 128,480,265(-) |
TCCTTG/AA NM_001143820.2(ETS1):c.1044_1049delinsTT (p.Lys349fs) |
FRAMESHIFT_VARIANT,INTRON |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1237588 | CNV | deletion | 17803354 |
esv1757388 | CNV | insertion | 17803354 |
esv25513 | CNV | loss | 19812545 |
esv2745237 | CNV | deletion | 23290073 |
esv2745238 | CNV | deletion | 23290073 |
esv2745239 | CNV | deletion | 23290073 |
esv274885 | CNV | gain+loss | 21479260 |
esv275204 | CNV | gain+loss | 21479260 |
esv275584 | CNV | loss | 21479260 |
esv3305475 | CNV | mobile element insertion | 20981092 |
esv3325680 | CNV | insertion | 20981092 |
esv3579955 | CNV | loss | 25503493 |
esv3579956 | CNV | loss | 25503493 |
esv3628046 | CNV | loss | 21293372 |
esv8500 | OTHER | inversion | 19470904 |
nsv442246 | CNV | loss | 18776908 |
nsv517012 | CNV | loss | 19592680 |
nsv952758 | CNV | duplication | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
jacobsen syndrome |
|
|
systemic lupus erythematosus |
|
|
ewing sarcoma |
|
|
fuchs' heterochromic uveitis |
|
|
benign meningioma |
|
|