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Literature summary for 2.3.1.255 extracted from

  • Stoeve, S.I.; Blenski, M.; Stray-Pedersen, A.; Wierenga, K.J.; Jhangiani, S.N.; Akdemir, Z.C.; Crawford, D.; McTiernan, N.; Myklebust, L.M.; Purcarin, G.; McNall-Knapp, R.; Wadley, A.; Belmont, J.W.; Kim, J.J.; Lupski, J.R.; Arnesen, T.
    A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy (2018), Eur. J. Hum. Genet., 26, 1294-1305 .
    View publication on PubMedView publication on EuropePMC
Search for more literature for 2.3.1.255

Cloned(Commentary)

Cloned (Comment) Organism
gene NAA10, genotyping, sequence comparisons, enzyme expression analysis Homo sapiens

Protein Variants

Protein Variants Comment Organism
I72T a naturally occuring mutation NAA10 c.215T>C, the mutant phenotype shows a milder phenotypic spectrum in comparison to most of the previously described patients with NAA10 variants. The three boys have development delay, intellectual disability, and cardiac abnormalities as overlapping phenotypes. NAA10 Ile72Thr protein is destabilized, while binding to NAA15 most likely is intact. The NatA activity of NAA10 Ile72Thr appears normal while its monomeric activity is decreased. Genotype-phenotype correlations for NAA10 variants, overview Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P41227
-
-

Source Tissue

Source Tissue Comment Organism Textmining
HeLa cell
-
 Homo sapiens
-

Synonyms

Synonyms Comment Organism
NAA10
-
 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 several X-linked NAA10 variants have been associated with genetic disorders. A NAA10 variant I72T with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy. Genotype-phenotype correlations for NAA10 variants, overview Homo sapiens
physiological function the NAA10-NAA15 complex (NatA) is an N-terminal acetyltransferase that catalyzes N-terminal acetylation of about 40% of all human proteins. N-terminal acetylation has several different roles in the cell, including altering protein stability and degradation, protein localization and protein-protein interactions Homo sapiens