NAA60
Function
N-alpha-acetyltransferase that specifically mediates the acetylation of N-terminal residues of the transmembrane proteins, with a strong preference for N-termini facing the cytosol (PubMed:25732826, PubMed:38480682). Displays N-terminal acetyltransferase activity towards a range of N-terminal sequences including those starting with Met-Lys, Met-Val, Met-Ala and Met-Met (PubMed:21750686, PubMed:25732826, PubMed:27320834, PubMed:27550639). Required for normal chromosomal segregation during anaphase (PubMed:21750686). May also show histone acetyltransferase activity; such results are however unclear in vivo and would require additional experimental evidences (PubMed:21981917).
Involvement in disease
Basal ganglia calcification, idiopathic, 9, autosomal recessive
IBGC9
A form of basal ganglia calcification, a genetically heterogeneous condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Acetylated: autoacetylation is required for optimal acetyltransferase activity.
Sequence Similarities
Belongs to the acetyltransferase family. NAA60 subfamily.
Cellular localization
- Golgi apparatus membrane
- Peripheral membrane protein
- Cytoplasmic side
- Probably forms an intramembrane hairpin-like structure in the membrane.
Alternative names
HAT4, NAT15, UNQ2771/PRO7155, NAA60, N-alpha-acetyltransferase 60, hNaa60, Histone acetyltransferase type B protein 4, N-acetyltransferase 15, N-alpha-acetyltransferase F, NatF