Gene content |
| EWSR1 ( by HUGO) |
| EWS RNA-Binding Protein 1 |
| Oncogene |
| EWS RNA-Binding Protein 1 EWS Ewing Sarcoma Breakpoint Region 1 bK984G1.4 Ewings Sarcoma EWS-Fli1 (Type 1) Oncogene EWS RNA-Binding Protein Variant 6 RNA-Binding Protein EWS Ewing Sarcoma Breakpoint Region 1 Protein EWS Oncogene |
| NCBI: 22q12.2 Ensembl: 22q12.2 |
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Subunit: Binds POLR2C, SF1, calmodulin and RNA. Interacts with PTK2B/FAK2 and TDRD3. Binds calmodulin in the presence, but not in the absence, of calcium ion Sequence caution: Sequence=CAA70044.1; Type=Erroneous initiation; 1 PDB 3D structure from [IMAGE] and Proteopedia [IMAGE] for EWSR1: 2CPE (3D) [IMAGE]
Tissue specificity: Ubiquitous [IMAGE] Pathway & Disease-focused RT2 Profiler PCR Array including EWSR1: Tumor Metastasis in human mouse rat Primer Products: [IMAGE] OriGene qPCR primer pairs and template standards for EWSR1 OriGene qSTAR qPCR primer pairs in human, mouse fo
Function: UniProtKB/Swiss-Prot Summary: EWS_HUMAN, Q01844 Function: Might normally function as a transcriptionnal repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes Gene Ontology (GO): Selected molecular function terms (see all 8): About this table GO ID Qualified GO term Evidence PubMed IDs GO:0000166 nucleotide binding IEA -- GO:0003676 nucleic acid binding -- -- GO:0003723 RNA binding TAS 8084618 GO:0005515 protein binding IPI 16189514 GO:0005516 calmodulin binding IEA -- [IMAGE] Find genes that share ontologies with EWSR1 About GenesLikeMe Phenotypes: 3 GenomeRNAi human phenotypes for EWSR1: Decreased nuclei size in G2M Increased cell death HMECs cel Increased gamma-H2AX phosphory
Similarity: Belongs to the RRM TET family Contains 1 IQ domain Contains 1 RanBP2-type zinc finger Contains 1 RRM (RNA recognition motif) domain [IMAGE]
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Disorder & Mutation |
Source |
Disease |
SWISS-PROT | Ewing sarcoma (ES) [MIM:612219]: A highly malignant, metastatic, primitive small round cell tumor of bone and soft tissue that affects children and adolescents. It belongs to the Ewing sarcoma family of tumors, a group of morphologically heterogeneous neoplasms that share the same cytogenetic features. They are considered neural tumors derived from cells of the neural crest. Ewing sarcoma represents the less differentiated form of the tumors. Note=The disease is caused by mutations affecting the gene represented in this entry. Chromosomal aberrations involving EWSR1 are found in patients with Ewing sarcoma. Translocation t(11;22)(q24;q12) with FLI1; translocation t(7;22)(p22;q12) with ETV1; translocation t(21;22)(q22;q12) with ERG; translocation t(9;22)(q22-31;q11-12) with NR4A3. Translocation t(2;21;22)(q23;q22;q12) that forms a EWSR1-FEV fusion protein with potential oncogenic activity |
SWISS-PROT | Note=A chromosomal aberration involving EWSR1 is associated with desmoplastic small round cell tumor (DSRCT). Translocation t(11;22)(p13;q12) with WT1 |
SWISS-PROT | Note=A chromosomal aberration involving EWSR1 is associated with malignant melanoma of soft parts (MMSP). Translocation t(12;22)(q13;q12) with ATF-1. Malignant melanoma of soft parts, also known as soft tissue clear cell sarcoma, is a rare tumor developing in tendons and aponeuroses |
SWISS-PROT | Note=A chromosomal aberration involving EWSR1 is associated with small round cell sarcoma. Translocation t(11;22)(p36.1;q12) with PATZ1 |
SWISS-PROT | Angiomatoid fibrous histiocytoma (AFH) [MIM:612160]: A distinct variant of malignant fibrous histiocytoma that typically occurs in children and adolescents and is manifest by nodular subcutaneous growth. Characteristic microscopic features include lobulated sheets of histiocyte-like cells intimately associated with areas of hemorrhage and cystic pseudovascular spaces, as well as a striking cuffing of inflammatory cells, mimicking a lymph node metastasis. Note=The disease may be caused by mutations affecting the gene represented in this entry. Chromosomal aberrations involving EWSR1 are found in patients with angiomatoid fibrous histiocytoma. Translocation t(12;22)(q13;q12) with ATF1 generates a chimeric EWSR1/ATF1 protein. Translocation t(2;22)(q33;q12) with CREB1 generates a EWSR1/CREB1 fusion gene that is most common genetic abnormality in this tumor type |
SWISS-PROT | Note=EFPS arise due to chromosomal translocations in which EWSR1 is fused to a variety of cellular transcription factors. EFPS are very potent transcriptional activators dependent on the EAD and a C-terminal DNA-binding domain contributed by the fusion partner. The spectrum of malignancies associated with EFPS are thought to arise via EFP-induced transcriptional deregulation, with the tumor phenotype specified by the EWSR1 fusion partner and cell type. Transcriptional repression of the transforming growth factor beta type II receptor (TGF beta RII) is an important target of the EWS-FLI1, EWS-ERG, or EWS-ETV1 oncogene |