EWSR1 ist ein Gen, das durch das Symbol EWSR1 kodiert wird. Andere Namen sind: RNA-binding protein EWS; EWS oncogene; Ewing sarcoma breakpoint region 1 protein; EWS. EWSR1 hat eine Masse von 68.48kDa, eine Aminosäurelänge von 656, und ist an folgenden Krankheiten beteiligt: Ewing sarcoma; Angiomatoid fibrous histiocytoma.
Wir bieten 6 antikörper gegen EWSR1, aufgewachsen in Kaninchen, welche geeignet sind für WB, ELISA and ICC/IF mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
Might normally function as a transcriptional 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.
Entrez Zusammenfassung
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.
Gewebespezifität
Ubiquitous.
Rolle bei Krankheiten
Ewing sarcoma: 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.
Angiomatoid fibrous histiocytoma: 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.
Sequenzähnlichkeiten
Belongs to the RRM TET family.
Posttranslationale Modifikation
Phosphorylated; calmodulin-binding inhibits phosphorylation of Ser-266.
Zellort
Nucleus. Cytoplasm. Cell membrane.
Relocates from cytoplasm to ribosomes upon PTK2B/FAK2 activation.
