EWSR1 Ewing sarcoma breakpoint region 1 [Homo sapiens (human)]
| Gene Symbol | EWSR1 |
| Entrez Gene ID | 2130 |
| Full Name | Ewing sarcoma breakpoint region 1 |
| Synonyms | EWS, bK984G1.4 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
22 22q12.2 |
| 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]. |
| Disorder | MIM: 133450 Ewing sarcoma, 612219 (3); Neuroepithelioma, 612219 (3) |
| mRNA | NM_005243, 253970497 |
| Protein | NP_005234, 4885225 |
| Product | RNA-binding protein EWS isoform 2 |
| RefSeq Status | REVIEWED |
| mRNA | NM_013986, 253970499 |
| Protein | NP_053733, 253970500 |
| Product | RNA-binding protein EWS isoform 1 |
| RefSeq Status | REVIEWED |
| mRNA | NM_001163285, 253970501 |
| Protein | NP_001156757, 253970502 |
| Product | RNA-binding protein EWS isoform 3 |
| RefSeq Status | REVIEWED |
| mRNA | NM_001163286, 253970503 |
| Protein | NP_001156758, 253970504 |
| Product | RNA-binding protein EWS isoform 4 |
| RefSeq Status | REVIEWED |
| mRNA | NM_001163287, 253970505 |
| Protein | NP_001156759, 253970506 |
| Product | RNA-binding protein EWS isoform 5 |
| RefSeq Status | REVIEWED |
| bard1pathway | BARD1 signaling events |
| Homo sapiens (human) | EWSR1 | NP_053733.2 |
| Pan troglodytes (chimpanzee) | EWSR1 | XP_001173085.1 |
| Canis lupus familiaris (dog) | LOC607391 | XP_858935.1 |
| Bos taurus (cattle) | EWSR1 | NP_001103270.1 |
| Mus musculus (house mouse) | Ewsr1 | NP_031994.2 |
| Rattus norvegicus (Norway rat) | Ewsr1 | XP_001065285.1 |
| Gallus gallus (chicken) | EWSR1 | NP_001034356.1 |
| Danio rerio (zebrafish) | ewsr1a | NP_001108610.1 |
| ID | Name | Evidence |
| GO:0006355 | regulation of transcription, DNA-dependent | IEA |
Component
| ID | Name | Evidence |
| GO:0005622 | intracellular | IEA |
| GO:0005634 | nucleus | IEA |
| GO:0005737 | cytoplasm | IEA |
| GO:0005886 | plasma membrane | IEA |
Function
| ID | Name | Evidence |
| GO:0000166 | nucleotide binding | IEA |
| GO:0003723 | RNA binding | IEA |
| GO:0005515 | protein binding | IPI |
| GO:0005516 | calmodulin binding | IEA |
| GO:0008270 | zinc ion binding | IEA |
| GO:0046872 | metal ion binding | IEA |
Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.
 |
Secured Online Quotation |
 |
Email: gene@genscript.com |
 |
Phone: 1-877-436-7274 (Toll-Free) 1-732-885-9188 |
 |
Fax: 1-732-210-0262 1-732-885-5878 |