SETD1A gene

SET domain containing 1A, histone lysine methyltransferase

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY

Cytogenetic Location: 16p11.2, which is the short (p) arm of chromosome 16 at position 11.2

Molecular Location: base pairs 30,956,618 to 30,984,664 on chromosome 16 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 16p11.2, which is the short (p) arm of chromosome 16 at position 11.2
  • EPEDD
  • KMT2F
  • Set1
  • Set1A