Recombinant Human ASH1L protein (His tag N-Terminus)

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ASH1L also known as Absent Small or Homeotic-Like 1 is a protein-coding gene that functions as a histone lysine methyltransferase. This enzyme has a large mass of around 296 kDa and is mainly expressed in the human brain and the testes. It is located in the euchromatic region and participates in depositing methyl groups on lysine residues of histones which influences chromatin structure and gene expression. Due to its ability to modify chromatin ASH1L plays a significant role in regulating transcription.

Biological function summary

ASH1L contributes to various processes involving transcriptional regulation and chromatin modification. This protein functions as part of the Set1/Ash1 complex where it influences gene expression by specifically methylating histone H3 at lysine 36 (H3K36). The methylation of this residue is associated with active transcription and is important for the proper regulation of genes involved in development and differentiation. ASH1L-mediated modifications thereby facilitate the global maintenance of the active chromatin state essential for cellular processes.

Pathways

ASH1L is engaged in pathways related to histone modification and transcriptional regulation. It functions alongside proteins in the Wnt signaling pathway which plays a vital role in regulating tissue-specific transcription programs. ASH1L can alternatively interact with other histone methyltransferases like the NSD family which share similar functions in chromatin dynamics and are involved in transcription elongation and chromatin remodeling.

ASH1L has been associated with developmental disorders and certain cancers. Its function in epigenetic regulation makes it significant in neurodevelopmental disorders where disruptions in its expression or function can lead to conditions such as autism spectrum disorders. Additionally ASH1L's misregulation has been linked to leukemia where it interacts with mixed-lineage leukemia (MLL) proteins due to its role in regulating gene expression involved in cell proliferation.