Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary 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

Cloned(Commentary)

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

Protein Variants

EC Number Protein Variants Comment Organism
2.3.1.255 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

EC Number Organism UniProt Comment Textmining
2.3.1.255 Homo sapiens P41227
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
2.3.1.255 HeLa cell
-
 Homo sapiens
-

Synonyms

EC Number Synonyms Comment Organism
2.3.1.255 NAA10
-
 Homo sapiens

Temperature Optimum [°C]

EC Number Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
2.3.1.255 37
-
 assay at Homo sapiens

pH Optimum

EC Number pH Optimum Minimum pH Optimum Maximum Comment Organism
2.3.1.255 8.5
-
 assay at Homo sapiens

Cofactor

EC Number Cofactor Comment Organism Structure
2.3.1.255 acetyl-CoA
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
2.3.1.255 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
2.3.1.255 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