SET domain containing protein 1A (SETD1A) is a protein that serves as a component of a

histone methyltransferase Histone methyltransferases (HMT) are histone-modifying enzymes (e.g., histone-lysine N-methyltransferases and histone-arginine N-methyltransferases), that catalyze the transfer of one, two, or three methyl groups to lysine and arginine residues of ...

(HMT) complex that produces mono-, di-, and trimethylated

histone H3 Histone H3 is one of the five main histones involved in the structure of chromatin in eukaryotic cells. Featuring a main globular domain and a long N-terminal tail, H3 is involved with the structure of the nucleosomes of the 'beads on a stri ...

at the lys4 residue ( K4). SETD1A is highly homologous with

SETDB1 Histone-lysine N-methyltransferase SETDB1 is an enzyme that in humans is encoded by the ''SETDB1'' gene. SETDB1 is also known as KMT1E or H3K9 methyltransferase ESET. Function The SET domain is a highly conserved, approximately 150-amino acid ...

but has a distinct subnuclear distribution.

Clinical significance

Mutations of the SETD1A gene can cause neurodevelopmental disorder with speech impairment and dysmorphic facies (NEDSID) discovered in 2021, and early-onset epilepsy with or without developmental delay, first described in 2019. According to a review published in 2018, mutations of the SETD1A gene may increase the risk of

schizophrenia Schizophrenia is a mental disorder characterized by continuous or relapsing episodes of psychosis. Major symptoms include hallucinations (typically hearing voices), delusions, and disorganized thinking. Other symptoms include social withdra ...

, based on studies available up to that date.

History

The protein was first described in human in 2003 by Wysocka et al.

References

{{protein-stub Genes on human chromosome 16

Clinical significance

History

See also

References