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Beschreibung

ELL-associated factor 1 (UniProt: Q96JC9, also known as EAF1) is encoded by the EAF1 gene (Gene ID: 85403) in human. EAF1, a member of the EAF family, is a component of the super elongation complex that is composed of EAF1, EAF2, CDK9, MLLT3/AF9, AFF, the P-TEFb complex and ELL. It acts as a transcriptional transactivator of ELL and ELL2 elongation activities. In its C-terminal region resides a sequence (aa 182-262) that is shown to be essential for its transactivation activity. The carboxy-terminal of ELL contains a sequence (aa 508-621) that is shown to be essential for interaction with EAF1. Both EAF1 and EAF2 are shown to play important roles in tumor suppression and embryogenesis. They are also reported to inhibit Wnt/beta-catenin signaling, thereby modulating mesodermal and neural patterning in the embryo and their ectopic expression in embryos and cultured cells can block beta-catenin reporter activity. They interact with the beta-catenin center region containing 12 Armadillo repeats and the C-terminus region. EAF1 is strongly expressed in many tissues, including heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen, prostate, testis, small intestine, and colon. Two isoforms of EAF1 have been described that are produced by alternative splicing. (Ref.: Liu, JX., et al. (2013). Development. 140(5), 1067-1078, Simone, F., et al. (2003). Blood. 101(6), 2355-2362, Simone, F., et al. (2001), Blood 98(1), 201-209).