AWS domain
IPR006560
Definition
This domain, Associated With SET (AWS), whose specific function is still unknown, is found in a group of histone-lysine N-methyltransferases and similar eukaryotic proteins, including Histone-lysine N-methyltransferase, H3 lysine-36 specific from humans (H3-K36-HMTase or Nsd1). Nsd1 is a transcriptional intermediary factor capable of both negatively or positively influencing transcription, depending on the cellular context. Mutations in this protein are associated with several human disorders such as Sotos syndrome [[cite:PMID:21196496], [cite:PMID:11896389]]. This cysteine-rich domain is often found in association with the SET domain ([interpro:IPR001214]).
5 human proteins with this domain
Each is a reviewed human protein in the Seroatlas serome and a potential autoantibody target; this domain groups them into one antibody-relevant category. Every entry links to its own record.
Loading the interactive Seroatlas explorer...