Aliases for EWSR1 Gene
External Ids for EWSR1 Gene
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]
GeneCards Summary for EWSR1 Gene
EWSR1 (EWS RNA-Binding Protein 1) is a Protein Coding gene. Diseases associated with EWSR1 include connective tissue benign neoplasm and desmoplastic small round cell tumor. Among its related pathways are Translational Control and Transcriptional misregulation in cancer. GO annotations related to this gene include RNA binding and nucleotide binding. An important paralog of this gene is FUS.
UniProtKB/Swiss-Prot for EWSR1 Gene
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