SETD1A

The protein encoded by this gene is a component of a histone methyltransferase (HMT) complex that produces mono-, di-, and trimethylated histone H3 at Lys4. Trimethylation of histone H3 at lysine 4 (H3K4me3) is a chromatin modification known to generally mark the transcription start sites of active genes. The protein contains SET domains, a RNA recognition motif domain and is a member of the class V-like SAM-binding methyltransferase superfamily. [provided by RefSeq, Dec 2016]

SET domain containing 1A

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:12670868).
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).

Biological Process brain developmentManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process cellular response to DNA damage stimulusIEA:UniProtKB-KW
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 ExperimentIBA:GO_Central
Biological Process histone H3-K4 monomethylationManual Assertion Based On ExperimentIDA:CACAO
Biological Process histone H3-K4 trimethylationManual Assertion Based On ExperimentIDA:CACAO
Biological Process regulation of chromatin organizationManual Assertion Based On ExperimentIDA:ParkinsonsUK-UCL
Biological Process regulation of hematopoietic stem cell differentiationManual Assertion Based On ExperimentIDA:ParkinsonsUK-UCL

Nucleus speckle
Chromosome
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.

Epilepsy, early-onset, with or without developmental delay (EPEDD):
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 EPEDD patients have normal psychomotor development and normal brain imaging, whereas others may show developmental delay associated with abnormalities on brain imaging.
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.