DISEASES

Disease-gene associations mined from literature

Literature associating NAA50 and anhidrosis

NAA50 [ENSP00000240922]

N-alpha-acetyltransferase 50; N-alpha-acetyltransferase that acetylates the N-terminus of proteins that retain their initiating methionine (PubMed:19744929, PubMed:22311970, PubMed:21900231, PubMed:27484799). 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 . ECO:0000269|PubMed:17502424, ECO:0000269|PubMed:19744929, ECO:0000269|PubMed:21900231, ECO:0000269|PubMed:22311970,; Belongs to the acetyltransferase family. GNAT subfamily.

Synonyms:  NAA50,  NAA50p,  hNAA50,  A0A087WWJ2,  A0A0D9SF32 ...

Linkouts:  STRING  Pharos  UniProt  OMIM