Literature summary for 2.3.1.255 extracted from

Ree, R.; Geithus, A.S.; Toerring, P.M.; Soerensen, K.P.; Damkjaer, M.; Damkjaer, M.; Lynch, S.A.; Arnesen, T.
A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly (2019), BMC Med. Genet., 20, 101 .

Search for more literature for 2.3.1.255

Cloned(Commentary)

Cloned (Comment)	Organism
gene NAA10, DNA and amino acid sequence determination and analysis, genotyping, recombinant expression of His-MBP-tagged wild-type and mutant Naa10 in Escherichia coli strain BL21 Star DE3	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
R83H	naturally occuring c.248G > A missense mutation, reduced enzymatic activity of monomeric NAA10-R83H. This variant is modelled to have an altered charge density in the acetyl-CoA binding region of NAA10	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P41227 AND Q9BXJ9	subunits Naa10 and Naa15 of NatA enzyme complex	-

Purification (Commentary)

Purification (Comment)	Organism
recombinant His-MBP-tagged wild-type and mutant Naa10 from Escherichia coli strain BL21 Star DE3 by affinity chromatography	Homo sapiens

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
acetyl-CoA + N-terminal L-aspartyl-[DDIAALRWGRPVGRRRRPVRVYP]	-	Homo sapiens	CoA + H+ + N-terminal Nalpha-acetyl-L-aspartyl-[DDIAALRWGRPVGRRRRPVRVYP]	-	?
acetyl-CoA + N-terminal L-glutamyl-[EEIAALRWGRPVGRRRRPVRVYP]	-	Homo sapiens	CoA + H+ + N-terminal Nalpha-acetyl-L-glutamyl-[EEIAALRWGRPVGRRRRPVRVYP]	-	?
acetyl-CoA + N-terminal L-methionyl-[LGPEGGRWGRPVGRRRRPVRVYP]	-	Homo sapiens	CoA + H+ + N-terminal Nalpha-acetyl-L-methionyl-[LGPEGGRWGRPVGRRRRPVRVYP]	-	?
acetyl-CoA + N-terminal L-seryl-[ESSSKSRWGRPVGRRRRPVRVYP]	-	Homo sapiens	CoA + H+ + N-terminal Nalpha-acetyl-L-seryl-[ESSSKSRWGRPVGRRRRPVRVYP]	-	?

Synonyms

Synonyms	Comment	Organism
N-alpha-acetyltransferase 10	-	Homo sapiens
N-alpha-acetyltransferase 15	-	Homo sapiens
NAA10	-	Homo sapiens
NAA10-NAA15 complex	-	Homo sapiens
NAA15	-	Homo sapiens
NatA	-	Homo sapiens

Temperature Optimum [°C]

Temperature Optimum [°C]	Temperature Optimum Maximum [°C]	Comment	Organism
37	-	assay at	Homo sapiens

pH Optimum

pH Optimum Minimum	pH Optimum Maximum	Comment	Organism
8.5	-	assay at	Homo sapiens

Cofactor

Cofactor	Comment	Organism	Structure
acetyl-CoA	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	NAA10 germline variants are found in patients with the X-linked lethal Ogden syndrome, and in other familial or de novo cases with variable degrees of developmental delay, intellectual disability (ID) and cardiac anomalies. A R83H missense variant in NAA10 is detected by whole exome sequencing in two unrelated boys with intellectual disability, developmental delay, ADHD like behaviour, very limited speech and cardiac abnormalities. Phenotypes, overview. Mutant NAA10-R83H has a reduced monomeric catalytic activity, likely due to impaired enzyme-acetyl-CoA binding	Homo sapiens
additional information	structure comparison, wild-type NAA10 and mutant NAA10-R83H from the human NatA complex (PDB ID 6C9M) are compared with the structure of NAA10 from the Schizosaccharomyces pombe NatA complex (PDB ID 4KVM)	Homo sapiens
physiological function	N-terminal acetylation is a common protein modification in human cells and is catalysed by N-terminal acetyltransferases (NATs), mostly cotranslationally. The NAA10-NAA15 (NatA) protein complex is the major NAT, responsible for acetylating about 40% of human protein. Naa15 is the NatA auxiliary subunit	Homo sapiens

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Release 2023.1 (January 2023)