EWSR1
Summary: 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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
EWS RNA binding protein 1 | MIM:133450 | Ensembl:ENSG00000182944 | HGNC:HGNC:3508 | PA27921 | 22q12.2 |
GO terms in EWSR1
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
MF | IBA | GO:0003712 | transcription coregulator activity |
MF | HDA | GO:0003723 | RNA binding |
MF | IPI | GO:0005515 | protein binding |
MF | IEA | GO:0005516 | calmodulin binding |
MF | IPI | GO:0042802 | identical protein binding |
MF | IEA | GO:0046872 | metal ion binding |
CC | IBA | GO:0005634 | nucleus |
CC | IDA | GO:0005634 | nucleus |
CC | IDA | GO:0005730 | nucleolus |
CC | IEA | GO:0005737 | cytoplasm |
CC | IEA | GO:0005886 | plasma membrane |
BP | IEA | GO:0006351 | transcription, DNA-templated |
BP | IEA | GO:0006355 | regulation of transcription, DNA-templated |
Gene expression in normal tissue: EWSR1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in EWSR1
Database | Pathway ID | Pathway Des. |
---|---|---|
pid | bard1pathway | BARD1 signaling events |
netpath | Pathway_TGF_beta_Receptor | TGF_beta_Receptor |
kegg | hsa05202 | Transcriptional misregulation in cancer - Homo sapiens (human) |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
---|---|---|
iGMDRD639 | YK 4-279 | 2 |
iGMDRD280 | CYTOCHALASIN B | 4 |
iGMDRD901 | ELCPK | 2 |
iGMDRD154 | NSC23766 | 2 |
iGMDRD132 | (-)-gallocatechin-3-O-gallate | 2 |
iGMDRD554 | CHEMBL1434137 | 2 |
iGMDRD126 | Tipifarnib | 4 |
iGMDRD512 | nutlin 3 | 2 |
iGMDRD424 | Tamatinib | 2 |
iGMDRD532 | Olaparib | 2 |
iGMDRD79 | Gemcitabine | 2 |
iGMDRD730 | Kahalalide F | 2 |
iGMDRD74 | Idarubicin | 2 |
iGMDRD871 | BRD6368 | 2 |
iGMDRD780 | PP-30 | 1 |
iGMDRD506 | Fedratinib | 2 |
iGMDRD300 | Tozasertib | 2 |
iGMDRD444 | Tivantinib | 2 |
iGMDRD268 | Cerulenin | 2 |
iGMDRD23 | Gossypol | 2 |
iGMDRD158 | NSC141540 | 3 |
iGMDRD137 | Indisulam | 2 |
iGMDRD270 | Ciclosporin | 3 |
iGMDRD434 | BMS-536924 | 3 |
iGMDRD294 | Batimastat | 2 |
iGMDRD226 | ML006 | 2 |
iGMDRD318 | PAC-1 | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in EWSR1