ETV1是原癌基因，编码蛋白是一种ETS（E26转化特异性）家族转录因子。ETV1的下游转录靶点是多样的和组织特异性的。ETV1是MAP激酶通路的下游转录调节器，它由MAP激酶通过转录、蛋白稳定性和磷酸化而被严格调控。ETV1的内源性表达局限于几种组织，包括中枢和外周神经系统的特定神经元和Cajal间质细胞（胃肠道“起搏器”细胞）。ETV1通过不同的机制在几种癌症中异常激活：在尤文氏肉瘤中，ETV1与EWS蛋白融合以产生嵌合EWS- ETV1蛋白。在前列腺癌中，ETV1通过易位异常过表达，导致融合转录物或全长转录物。在黑色素瘤中，ETV1通过其染色体的扩增异常过表达。在胃肠道间质瘤（GIST）中，ETV1是内源性高表达的。

ETV1 (ETS Translocation Variant 1) gene, belongs to the ETS (E26 transformation-specific) family of transcription factors. The downstream transcriptional targets of ETV1 are diverse and tissue specific. ETV1 is a downstream transcriptional mediator of the MAP kinase pathway and it is tightly regulated by the MAP kinase through transcription, protein stability, and phosphorylation. The endogenous expression of ETV1 is restricted to several tissues, including specific neurons of the central and peripheral nervous systems and the interstitial cells of Cajal (“pacemaker” cells of the gastrointestinal tract). ETV1 is aberrantly activated in several cancers through distinct mechanisms: In Ewing sarcoma, ETV1 is fused with the EWS protein to generate the chimeric EWS-ETV1 protein. In prostate cancer, ETV1 is aberrantly over-expressed through translocation resulting in either fusion transcript or full-length transcript. In melanoma, ETV1 is aberrantly over-expressed through genetic amplification of its chromosomal locus. In gastrointestinal stromal tumors (GISTs), ETV1 is endogenously highly expressed and required to maintain lineage specification and survival.

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