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KAT6A (NM_006766) - lysine acetyltransferase 6A

Histone Acetyltransferase Kat6a Isoform 1

Mutations Visualisation

Protein summary

This is preferred isoform of KAT6A protein. View all 2 isoforms
KAT6A: histone acetyltransferase KAT6A isoform 1
Description:

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].

Strand
-
Chromosome
8
Protein
2004 residues
All mutations
309
PTM sites
52
CDS
41,789,722 - 41,906,495
Transcription
41,786,996 - 41,909,544
74.4% of sequence is predicted to be disordered

External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 7994
UniProt
Ensembl