SETD1A
Domain
The RRM domain confers RNA binding activity.
Function
Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) via a non-processive mechanism (PubMed:12670868, PubMed:25561738). Part of chromatin remodeling machinery, forms H3K4me1, H3K4me2 and H3K4me3 methylation marks at active chromatin sites where transcription and DNA repair take place (PubMed:29937342, PubMed:31197650, PubMed:32346159). Responsible for H3K4me3 enriched promoters and transcriptional programming of inner mass stem cells and neuron progenitors during embryogenesis (By similarity) (PubMed:31197650). Required for H3K4me1 mark at stalled replication forks. Mediates FANCD2-dependent nucleosome remodeling and RAD51 nucleofilaments stabilization at reversed forks, protecting them from nucleolytic degradation (PubMed:29937342, PubMed:32346159). Does not methylate 'Lys-4' of histone H3 if the neighboring 'Lys-9' residue is already methylated (PubMed:12670868). Binds RNAs involved in RNA processing and the DNA damage response (PubMed:38003223).
Involvement in disease
Epilepsy, early-onset, 2, with or without developmental delay
EPEO2
An autosomal dominant neurologic disorder characterized by early onset of generalized tonic-clonic seizures associated with sharp wave and sharp slow wave discharges on EEG. Some EPEO2 patients have normal psychomotor development and normal brain imaging, whereas others may show developmental delay associated with abnormalities on brain imaging.
None
The disease is caused by variants affecting the gene represented in this entry.
Neurodevelopmental disorder with speech impairment and dysmorphic facies
NEDSID
An autosomal dominant disorder characterized by global developmental delay, intellectual disability, speech delay, subtle facial dysmorphism, and behavioral and psychiatric problems.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the class V-like SAM-binding methyltransferase superfamily.
Cellular localization
- Nucleus speckle
- Chromosome
- Cytoplasm
- Localizes to a largely non-overlapping set of euchromatic nuclear speckles with SETD1B, suggesting that SETD1A and SETD1B each bind to a unique set of target genes (PubMed:17355966). Predominantly nuclear (PubMed:38003223).
Alternative names
KIAA0339, KMT2F, SET1, SET1A, SETD1A, Histone-lysine N-methyltransferase SETD1A, Lysine N-methyltransferase 2F, SET domain-containing protein 1A, Set1/Ash2 histone methyltransferase complex subunit SET1, hSET1A