SETD1A
Description
The SETD1A (SET domain containing 1A, histone lysine methyltransferase) is a protein-coding gene located on chromosome 16.
SET domain containing protein 1A (SETD1A) is a protein that acts as a histone methyltransferase (HMT). It modifies histone H3 at the lysine 4 residue (K4), creating mono-, di-, and trimethylated forms. SETD1A is very similar to SETDB1 but has a different location within the nucleus. Mutations in the SETD1A gene have been linked to neurodevelopmental disorder with speech impairment and dysmorphic facies (NEDSID), as well as early-onset epilepsy, possibly with developmental delay. Research suggests that SETD1A mutations may increase the risk of schizophrenia. The protein was first discovered in humans in 2003.
SETD1A is a histone methyltransferase that adds methyl groups to the lysine 4 residue of histone H3 (H3K4), creating methylation marks like H3K4me1, H3K4me2, and H3K4me3. This process is essential for active chromatin regions involved in transcription and DNA repair. SETD1A plays a role in establishing H3K4me3 enriched promoters, influencing the transcriptional programming of inner mass stem cells and neuron progenitors during development. It also participates in replication fork stabilization by mediating nucleosome remodeling and protecting stalled forks from degradation. Notably, SETD1A does not methylate H3K4 if the neighboring lysine 9 residue is already methylated. Furthermore, SETD1A interacts with RNAs involved in RNA processing and the DNA damage response.
SETD1A is also known as EPEDD, EPEO2, KMT2F, NEDSID, Set1, Set1A.
Associated Diseases
- Epilepsy, early-onset, with or without developmental delay
- Neurodevelopmental disorder with speech impairment and dysmorphic facies
