MOZ Antibody – Rabbit Polyclonal

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]

MYST3: Histone acetyltransferase that acetylates lysine residues in histone H3 and histone H4 (in vitro). Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. May act as a transcriptional coactivator for RUNX1 and RUNX2. Chromosomal aberrations involving KAT6A may be a cause of acute myeloid leukemias. Translocation t(8;16)(p11;p13) with CREBBP; translocation t(8;22)(p11;q13) with EP300. KAT6A- CREBBP may induce leukemia by inhibiting RUNX1-mediated transcription. Inversion inv(8)(p11;q13) generates the KAT6A-NCOA2 oncogene, which consists of the N-terminal part of KAT6A and the C-terminal part of NCOA2/TIF2. KAT6A-NCOA2 binds to CREBBP and disrupts its function in transcription activation. A chromosomal aberration involving KAT6A is a cause of therapy-related myelodysplastic syndrome. Translocation t(2;8)(p23;p11.2) with ASXL2 generates a KAT6A-ASXL2 fusion protein. Belongs to the MYST (SAS/MOZ) family.

Protein type: Acetyltransferase; Oncoprotein; Nucleolus; EC 2.3.1.48

Chromosomal Location of Human Ortholog: 8p11

Cellular Component: nucleoplasm; Golgi apparatus; PML body; nucleolus; nucleosome; nucleus

Molecular Function: protein binding; histone acetyltransferase activity; DNA binding; zinc ion binding; transcription coactivator activity; acetyltransferase activity; chromatin binding; transcription factor binding

Biological Process: heart morphogenesis; establishment and/or maintenance of chromatin architecture; transcription, DNA-dependent; embryonic hemopoiesis; somatic stem cell maintenance; positive regulation of transcription, DNA-dependent; negative regulation of transcription factor activity; nucleosome assembly; protein amino acid acetylation; myeloid cell differentiation; histone acetylation; negative regulation of transcription, DNA-dependent; DNA packaging

Disease: Mental Retardation, Autosomal Dominant 32