SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae)
Gene Summary
ELL encodes an RNA polymerase II transcription factor that undergoes frequent translocation in acute myeloid leukemia (AML). In addition to its elongation activity, ELL contains a novel type of RNA polymerase II interaction domain that is capable of repressing polymerase activity in promoter-specific transcription. EAP30 is a subunit of the ELL complex. EAP30 can interact with ELL and derepress ELL's inhibitory activity in vitro.SNF8, VPS25 (MIM 610907), and VPS36 (MIM 610903) form ESCRT-II (endosomal sorting complex required for transport II), a complex involved in endocytosis of ubiquitinated membrane proteins. SNF8, VPS25, and VPS36 are also associated in a multiprotein complex with RNA polymerase II elongation factor (ELL; MIM 600284) (Slagsvold et al., 2005 [PubMed 15755741]; Kamura et al., 2001 [PubMed 11278625]).[supplied by OMIM].