KAT8 regulatory NSL complex subunit 1
mammalian protein found in Homo sapiens
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.
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This entry incorporates text from “KAT8 regulatory NSL complex subunit 1” on English Wikipedia. Contributors are listed in the page history. Text is available under the Creative Commons Attribution-ShareAlike 4.0 License. Selected authority identifiers and statements are retrieved from Wikidata under CC0; their references and qualifiers remain part of the verification path.