Disease-gene associations mined from literature

Literature associating NAA50 and Charcot-Marie-Tooth disease type 4

NAA50 [ENSP00000240922]

N(alpha)-acetyltransferase 50, NatE catalytic subunit; N-alpha-acetyltransferase that acetylates the N-terminus of proteins that retain their initiating methionine. Has a broad substrate specificity: able to acetylate the initiator methionine of most peptides, except for those with a proline in second position. Also displays N-epsilon-acetyltransferase activity by mediating acetylation of the side chain of specific lysines on proteins. Autoacetylates in vivo. The relevance of N-epsilon-acetyltransferase activity is however unclear: able to acetylate H4 in vitro, but this result has not been confirmed in vivo. Component of a N-alpha- acetyltransferase complex containing NAA10 and NAA15, but NAA50 does not influence the acetyltransferase activity of NAA10: this multiprotein complex probably constitutes the major contributor for N-terminal acetylation at the ribosome exit tunnel, with NAA10 acetylating all amino termini that are devoid of methionine and NAA50 acetylating other peptides. Required for sister chromatid cohesion during mitosis by promoting binding of CDCA5/sororin to cohesin: may act by counteracting the function of NAA10; Belongs to the acetyltransferase family. GNAT subfamily.

Synonyms:  NAA50,  NAA50p,  hNAA50,  B0AZT5,  C9J5D1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM