UPF0606 protein KIAA1549 (KIAA1549)

KIAA1549 encodes the UPF0606 protein KIAA1549, a member of the uncharacterized UPF0606 family possibly involved in photoreceptor function[5]. Though not a classic therapeutic target by itself, KIAA1549 is best known as the frequent 5′ partner in the KIAA1549-BRAF fusion gene that arises from a tandem duplication on chromosome 7q34. This fusion occurs predominantly in pediatric low-grade astrocytomas, especially pilocytic astrocytoma, and leads to constitutive activation of the MAPK signaling pathway by removing inhibitory domains from BRAF and promoting oncogenic signaling[1][2][3][7]. The presence of the KIAA1549-BRAF fusion is highly specific for these tumors and serves as both a diagnostic biomarker and a determinant of therapeutic strategy, affecting sensitivity to different generations of RAF inhibitors[1][2]. Native KIAA1549 has no established role as a receptor, enzyme, or direct drug target and is not known to interact with drugs outside the fusion context. There are multiple transcript variants due to alternative splicing[1][5].

Other names

KIAA1549RP86UPF0606 protein KIAA1549K1549_HUMAN

For KIAA1549-BRAF fusions, drugs act by inhibiting BRAF/MAPK signaling; KIAA1549 itself has no known direct mechanism of action[1][2]