KAT6A

This gene encodes a member of the MOZ, YBFR2, SAS2, TIP60 family of histone acetyltransferases. The protein is composed of a nuclear localization domain, a double C2H2 zinc finger domain that binds to acetylated histone tails, a histone acetyl-transferase domain, a glutamate/aspartate-rich region, and a serine- and methionine-rich transactivation domain. It is part of a complex that acetylates lysine-9 residues in histone 3, and in addition, it acts as a co-activator for several transcription factors. Allelic variants of this gene are associated with an autosomal dominant form of cognitive disability. Chromosomal translocations of this gene are associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]

Description

Lysine acetyltransferase 6A

Tissue specificity

Low tissue specificity

Subcell location

Nucleoli, Nuclear speckles, Cytosol

Predicted location

Intracellular

Protein family

Cancer-related genes
Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transcription factors

Chromosome

8 (41929479 - 42051994)

Ensembl ID

ENSG00000083168  (ver. 103.38)

Orthologs

Mouse Kat6a: ENSMUSG00000031540

UniProt

Q92794

neXtProt

NX_Q92794

Human splice variants
Mouse splice variants

Protein structure