KAT8

This gene encodes a member of the MYST histone acetylase protein family. The encoded protein has a characteristic MYST domain containing an acetyl-CoA-binding site, a chromodomain typical of proteins which bind histones, and a C2HC-type zinc finger. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

Full Name

Lysine Acetyltransferase 8

Function

Histone acetyltransferase which may be involved in transcriptional activation (PubMed:12397079, PubMed:22020126).
May influence the function of ATM (PubMed:15923642).
As part of the MSL complex it is involved in acetylation of nucleosomal histone H4 producing specifically H4K16ac (PubMed:16227571, PubMed:16543150, PubMed:21217699, PubMed:22547026, PubMed:22020126).
As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues (PubMed:20018852, PubMed:22547026).
That activity is less specific than the one of the MSL complex (PubMed:20018852, PubMed:22547026).
Can also acetylate TP53/p53 at 'Lys-120'.

Biological Process

Chromatin organizationIEA:UniProtKB-KW
Histone acetylationManual Assertion Based On ExperimentIDA:UniProtKB
Histone H4-K16 acetylationManual Assertion Based On ExperimentIDA:UniProtKB
Histone H4-K5 acetylationManual Assertion Based On ExperimentIDA:UniProtKB
Histone H4-K8 acetylationManual Assertion Based On ExperimentIDA:UniProtKB
Myeloid cell differentiationManual Assertion Based On ExperimentIDA:UniProtKB
Negative regulation of transcription, DNA-templatedManual Assertion Based On ExperimentIDA:UniProtKB
Positive regulation of histone H3-K4 methylationManual Assertion Based On ExperimentIDA:ComplexPortal
Positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Positive regulation of transcription, DNA-templatedManual Assertion Based On ExperimentIDA:UniProtKB
Regulation of autophagyManual Assertion Based On ExperimentIDA:MGI
Regulation of dosage compensation by inactivation of X chromosomeIEA:Ensembl

Cellular Location

Nucleus; Chromosome

Involvement in disease

Li-Ghorbani-Weisz-Hubshman syndrome (LIGOWS):
An autosomal dominant disorder characterized by global developmental delay, mild to moderate intellectual disability, speech and language impairment, and variable facial dysmorphism. Some patients have seizures and autistic features. Brain imaging abnormalities are observed in some patients and include decreased white matter volume, enlarged ventricles, thin corpus callosum, and gray matter nodular heterotopia.

PTM

Autoacetylation at Lys-274 is required for binding histone H4 with high affinity and for proper function.