SETD1B
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:17355966, 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:17355966, PubMed:25561738). Plays an essential role in regulating the transcriptional programming of multipotent hematopoietic progenitor cells and lymphoid lineage specification during hematopoiesis (By similarity).
Involvement in disease
Intellectual developmental disorder with seizures and language delay
IDDSELD
An autosomal dominant neurodevelopmental disorder characterized by mild to profound intellectual development impairment, speech and language delay, and seizures. Autism and anxiety are common features. Facial dysmorphism, tapering fingers, and pigmentary skin changes may also be observed.
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
- Nucleus speckle
- Chromosome
- Cytoplasm
- Localizes to a largely non-overlapping set of euchromatic nuclear speckles with SETD1A, suggesting that SETD1A and SET1B each bind to a unique set of target genes (Probable) (PubMed:17355966). Predominantly nuclear (PubMed:38003223).
Alternative names
KIAA1076, KMT2G, SET1B, SETD1B, Histone-lysine N-methyltransferase SETD1B, Lysine N-methyltransferase 2G, SET domain-containing protein 1B, hSET1B