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Literature summary for 2.3.1.255 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
Search for more literature for 2.3.1.255

Cloned(Commentary)

Cloned (Comment) Organism
expression in HeLa cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
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
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

Organism UniProt Comment Textmining
Homo sapiens P41227 catalytic subunit NAA10
-

Substrates and Products (Substrate)

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

Synonyms

Synonyms Comment Organism
NAA10
-
 Homo sapiens
NatA
-
 Homo sapiens

General Information

General Information Comment Organism
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