SETD1B

SET1B is a component of a histone methyltransferase complex that produces trimethylated histone H3 at Lys4 (Lee et al., 2007 [PubMed 17355966]).[supplied by OMIM, Mar 2008]

Full Name

SET Domain Containing 1B

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:25561738, PubMed:17355966).
Part of chromatin remodeling machinery, forms H3K4me1, H3K4me2 and H3K4me3 methylation marks at active chromatin sites where transcription and DNA repair take place (PubMed:25561738, PubMed:17355966).
Plays an essential role in regulating the transcriptional programming of multipotent hematopoietic progenitor cells and lymphoid lineage specification during hematopoiesis (By similarity).

Biological Process

Biological Process chromatin organizationIEA:UniProtKB-KW
Biological Process histone H3-K4 dimethylationManual Assertion Based On ExperimentIDA:CACAO
Biological Process histone H3-K4 methylationManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process histone H3-K4 monomethylationManual Assertion Based On ExperimentIDA:CACAO
Biological Process histone H3-K4 trimethylationManual Assertion Based On ExperimentIDA:CACAO

Cellular Location

Nucleus speckle
Chromosome
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.

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.