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This gene encodes an E26 transformation-specific related transcription factor. The encoded protein is primarily expressed in lymphoid cells and acts as both an enhancer and a repressor to regulate transcription of various genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]
ELF1 (E74 Like ETS Transcription Factor 1) is a Protein Coding gene. Diseases associated with ELF1 include Retinoblastoma and Intramuscular Hemangioma. Among its related pathways are Immune response IL-2 activation and signaling pathway and IL2 signaling events mediated by PI3K. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is ELF4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 8756667 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IDA | 8756667 |
GO:0003677 | DNA binding | IEA | -- |
GO:0003700 | DNA-binding transcription factor activity | IEA,IDA | 14970218 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IEA,IDA | 19674970 |
GO:0005654 | nucleoplasm | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Immune response IL-2 activation and signaling pathway |
Immune response IL-2 activation and signaling pathway
.41
|
Immune response IL-3 activation and signaling pathway
.41
|
2 | Immune response IL-23 signaling pathway | ||
3 | IL2 signaling events mediated by PI3K | ||
4 | Regulation of retinoblastoma protein |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001817 | regulation of cytokine production | IEA | -- |
GO:0001959 | regulation of cytokine-mediated signaling pathway | TAS | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0030154 | cell differentiation | IBA | 21873635 |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | · | 12c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||||||||
SP7: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ELF1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ELF1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Elf1 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ELF1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Elf1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | ELF1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ELF1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ELF1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ELF1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | elf1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | elf-1-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ef1 30 |
|
||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.1074 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Eip74EF 32 |
|
|
|
Worm (Caenorhabditis elegans) |
Secernentea | C24A1.2 32 |
|
|
|
ets-8 31 |
|
ManyToMany | |||
elf-1 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv986e59 | CNV | tandem duplication | 20981092 |
esv1709140 | CNV | deletion | 17803354 |
esv2672182 | CNV | deletion | 23128226 |
esv2747296 | CNV | deletion | 23290073 |
esv2747298 | CNV | deletion | 23290073 |
esv3373421 | CNV | duplication | 20981092 |
nsv561538 | CNV | loss | 21841781 |
nsv64500 | CNV | deletion | 16902084 |
nsv952542 | CNV | duplication | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
retinoblastoma |
|
|
intramuscular hemangioma |
|
|
t-cell lymphoblastic leukemia/lymphoma |
|