Aliases for SETD1A Gene
External Ids for SETD1A Gene
Previous GeneCards Identifiers for SETD1A Gene
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]
GeneCards Summary for SETD1A Gene
SETD1A (SET Domain Containing 1A, Histone Lysine Methyltransferase) is a Protein Coding gene. Diseases associated with SETD1A include Epilepsy, Early-Onset, With Or Without Developmental Delay and Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies. Among its related pathways are Chromatin organization and Lysine degradation. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is SETD1B.
UniProtKB/Swiss-Prot Summary for SETD1A Gene
Histone methyltransferase that specifically methylates 'Lys-4' of histone H3, when part of the SET1 histone methyltransferase (HMT) complex, but not if the neighboring 'Lys-9' residue is already methylated. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. The non-overlapping localization with SETD1B suggests that SETD1A and SETD1B make non-redundant contributions to the epigenetic control of chromatin structure and gene expression (PubMed:12670868). May play a role in synaptic function and the development of neurons (PubMed:31197650).