KAT8 regulatory NSL complex subunit 1 is a protein that in humans is encoded by the KANSL1 gene (previously KIAA1267). This protein is involved in multiple kinds of epigenetic modification, and in particular it is part of two histone acetyltransferase complexes: the NSL complex, and the MLL1 complex.
The NSL Complex The NSL Complex (or Non-Specific Lethal complex), is a multi-protein complex involved in histone acetylation. In addition to the protein KANSL1, the NSL complex includes KAT8, KANSL2, KANSL3, MCRS1, PHF20, OGT, WDR5 and HCFC1. The NSL complex performs histone H4 acetylation, and specifically H4K5ac and H4K8ac, functioning to promote transcription initiation. KANSL1 interacts directly with KAT8 through the HAT domain, and functions as a non-catalytic subunit for the complex.
Medical Significance Pathogenic mutations in KANSL1 are associated with Koolen-de Vries syndrome, a developmental disorder associated with intellectual disability, hypotonia, congenital skeletal/organ malformations, and sometimes epilepsy.
See also KAT8 KAT8 regulatory NSL complex subunit 2 KAT8 regulatory NSL complex subunit 3
References
Further reading





