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Literature summary extracted from

  • McTiernan, N.; Gill, H.; Prada, C.E.; Pachajoa, H.; Lores, J.; Lores, J.; Arnesen, T.
    NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy (2021), Eur. J. Hum. Genet., 29, 280-288.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
2.3.1.255 expression in HeLa cells Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
2.3.1.255 additional information variant c.303C>A in subunit NAA10 has been identified in a girl with developmental delay, who also displays hemihypertrophy. c.303C>A protein is completely impaired in its ability to bind NAA15 and to form an enzymatically active NatA complex Homo sapiens
2.3.1.255 N101K variant in subunit NAA10, identified in a girl with developmental delay, who also displays hemihypertrophy. The integrity of NAA10 N101K as a monomeric acetyltransferase is intact Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
2.3.1.255 Homo sapiens P41227 catalytic subunit NAA10
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.3.1.255 acetyl-CoA + EEEI24 monomeric NAA10 substrate Homo sapiens CoA + ?
-
 ?
2.3.1.255 acetyl-CoA + SESS24 NatA substrate Homo sapiens CoA + ?
-
 ?

Synonyms

EC Number Synonyms Comment Organism
2.3.1.255 NAA10
-
 Homo sapiens
2.3.1.255 NatA
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
2.3.1.255 malfunction variants c.303C>A and c.303C>G p.(N101K) in subunit NAA10 have been identified in two girls with developmental delay, who also display hemihypertrophy. NAA10 p.(N101K) is completely impaired in its ability to bind NAA15 and to form an enzymatically active NatA complex. The integrity of NAA10 p.(N101K) as a monomeric acetyltransferase is intact Homo sapiens