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This gene encodes a multifunctional protein that is involved in various cellular processes, including gene expression, cell signaling, and RNA processing and transport. The protein includes an N-terminal transcriptional activation domain and a C-terminal RNA-binding domain. Chromosomal translocations between this gene and various genes encoding transcription factors result in the production of chimeric proteins that are involved in tumorigenesis. These chimeric proteins usually consist of the N-terminal transcriptional activation domain of this protein fused to the C-terminal DNA-binding domain of the transcription factor protein. Mutations in this gene, specifically a t(11;22)(q24;q12) translocation, are known to cause Ewing sarcoma as well as neuroectodermal and various other tumors. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1 and 14. [provided by RefSeq, Jul 2009]
Fusions between EWSR1 and multiple 3` partners are regularly identified in soft tissue sarcomas and can aid in differential diagnosis. The fusion product usually contains the N-terminal transcription-activating domain of EWSR1 and the C-terminal DNA-binding domain of the fusion partner, generating a novel transcription factor.
EWSR1 (EWS RNA Binding Protein 1) is a Protein Coding gene. Diseases associated with EWSR1 include Ewing Sarcoma and Desmoplastic Small Round Cell Tumor. Among its related pathways are Chromatin Regulation / Acetylation and BARD1 signaling events. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and identical protein binding. An important paralog of this gene is FUS.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003712 | transcription coregulator activity | IBA | 21873635 |
GO:0003723 | RNA binding | IEA,IBA | 21873635 |
GO:0005515 | protein binding | IPI | 16189514 |
GO:0005516 | calmodulin binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IBA | 21873635 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005730 | nucleolus | IDA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005886 | plasma membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Calcium | Nutra | 6876 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | · | 12c | ^ | 13a | · | 13b | ^ | 14a | · | 14b | · | 14c | ^ | 15 | ^ | 16a | · | 16b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | EWSR1 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | EWSR1 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ewsr1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | EWSR1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | EWSR1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | EWSR1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | EWSR1 31 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | Xl.7705 30 |
|
||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | MGC76258 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ewsr1a 30 31 |
|
OneToMany | |
ewsr1b 31 |
|
OneToMany | |||
wufc04c01 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10118 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | caz 31 |
|
ManyToMany | |
CG14718 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
981021 | Uncertain Significance: Amyotrophic lateral sclerosis | 29,299,703(+) |
G/A NM_005243.4(EWSR1):c.1783G>A (p.Asp595Asn) |
MISSENSE | |
981022 | Uncertain Significance: Amyotrophic lateral sclerosis | 29,297,925(+) |
G/A NM_005243.4(EWSR1):c.1393G>A (p.Gly465Ser) |
MISSENSE | |
rs111270799 | Benign: not provided | 29,299,771(+) |
C/T NM_005243.4(EWSR1):c.1851C>T (p.Gly617=) |
SYNONYMOUS | |
rs115283640 | Likely Benign: not provided | 29,296,374(+) |
A/T NM_005243.4(EWSR1):c.1294+6A>T |
INTRON | |
rs146607451 | Benign: not provided | 29,286,941(+) |
G/A NM_005243.4(EWSR1):c.600G>A (p.Pro200=) |
SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2169204 | CNV | deletion | 18987734 |
esv21927 | CNV | loss | 19812545 |
esv2669638 | CNV | deletion | 23128226 |
esv2724123 | CNV | deletion | 23290073 |
esv3647528 | CNV | loss | 21293372 |
esv3647529 | CNV | loss | 21293372 |
esv991613 | CNV | deletion | 20482838 |
nsv1073159 | CNV | deletion | 25765185 |
nsv1112372 | CNV | deletion | 24896259 |
nsv1149945 | CNV | deletion | 26484159 |
nsv829154 | CNV | gain | 20364138 |
nsv829155 | CNV | loss | 20364138 |
nsv834171 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
ewing sarcoma |
|
|
desmoplastic small round cell tumor |
|
|
extraskeletal ewing sarcoma |
|
|
chondrosarcoma, extraskeletal myxoid |
|
|
melanoma of soft tissue |
|
|