MAP3K1是抑癌基因，编码蛋白是MEKK1，一种细胞内激酶，在致癌基因MAP激酶和JNK信号通路中传递信号的激酶。MAP3K1在MAPK信号分子中是独特的，因为它也作为ERK1/2的E3泛素连接酶，从而允许调节通路输出。MAP激酶和JNK通路的激活是在各种刺激如环境应激、炎性细胞因子、促凋亡信号和生长因子的作用下发生的。激活后的MAP3K1对下游效应分子如MAP2K4/7、MAP2K1/2、IKKα/β和其他参与凋亡、细胞存活、生长和分化的转录因子进行磷酸化，导致下游信号通路的激活。MAP3K1的胚系突变破坏了正常的性发育，导致46,XY性发育障碍。在乳腺癌（管状A亚型）中检测到MAP3K1的截短突变和缺失突变，表明MAP3K1可能作为抑癌基因发挥功能。但MAP3K1在某些情况下也可能促进肿瘤的发生和转移：例如在人黑色素瘤标本中检测到MAP3K1表达上升；在乳腺癌和胰腺癌模型中实验证实了MAP3K1具有促转移作用。

MAP3K1, an intracellular kinase, is altered by mutation or deletion in various cancer types, most frequently in breast and endometrial cancer.The MAP3K1 gene encodes MEKK1, a kinase that signals in the pro-oncogenic MAP-kinase and JNK signaling pathways. MAP3K1 is unique among the MAPK signaling molecules in that it also acts as an E3 ubiquitin ligase for ERK1/2, thus allowing for the regulation of pathway output. Activation of MAP-kinase and JNK pathways occurs in response to a variety of stimuli such as environmental stress, inflammatory cytokines, pro-apoptotic signals and growth factors. Activated MAP3K1 phosphorylates downstream effector molecules such as MAP2K4/7, MAP2K1/2, IKK alpha/beta and other transcription factors involved in apoptosis, cell survival, growth and differentiation leading to activation of downstream signaling pathways. Germline mutations in MAP3K1 disrupt normal sex development and cause 46, XY sex development disorder. Truncating mutations and deletions in MAP3K1 mutations have been identified in breast cancer, predominantly in the luminal A subtype, suggesting that MAP3K1 functions as a putative tumor suppressor. MAP3K1 may also promote oncogenesis and metastasis in some contexts. Elevated MAP3K1 expression has been found in human melanoma samples and MAP3K1 plays a pro-metastatic role in some cancers, as demonstrated by experimental studies in breast and pancreatic cancer models.

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