NAA50
Description
The NAA50 (N-alpha-acetyltransferase 50, NatE catalytic subunit) is a protein-coding gene located on chromosome 3.
NAA50, also known as N-alpha-acetyltransferase 50, is an enzyme that acetylates the N-terminus of proteins that retain their initiating methionine. It has a broad substrate specificity, capable of acetylating the initiator methionine of most peptides, except those with a proline in the second position. NAA50 also displays N-epsilon-acetyltransferase activity, mediating acetylation of the side chain of specific lysines on proteins. NAA50 autoacetylates in vivo, but the significance of its N-epsilon-acetyltransferase activity is unclear. It can acetylate H4 in vitro, but this has not been confirmed in vivo. NAA50 is a component of N-alpha-acetyltransferase complexes containing NAA10 and NAA15, which possess N-alpha-acetyltransferase activity. It does not influence the acetyltransferase activity of NAA10, but it negatively regulates the N-alpha-acetyltransferase activity of the N-terminal acetyltransferase A complex (NatA complex). These multiprotein complexes are likely major contributors to N-terminal acetylation at the ribosome exit tunnel, with NAA10 acetylating all amino termini lacking methionine and NAA50 acetylating other peptides. NAA50 is essential for sister chromatid cohesion during mitosis by promoting the binding of CDCA5/sororin to cohesin, potentially by counteracting the function of NAA10.
NAA50 is also known as MAK3, NAT13, NAT13P, NAT5, NAT5P, SAN, hNaa50p.
Associated Diseases
- glycoprotein storage disease
- neuronal ceroid lipofuscinosis 1
- hemoglobin H disease
- hemoglobin C-beta-thalassemia syndrome
- combined immunodeficiency due to OX40 deficiency
- familial isolated congenital asplenia
- dominant beta-thalassemia
- Lipedema
- hemolytic anemia due to diphosphoglycerate mutase deficiency
- hereditary neutrophilia
- hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
- erythroleukemia, familial, susceptibility to
- lymphatic malformation 8
- beta-thalassemia-X-linked thrombocytopenia syndrome
