DISEASES

Disease-gene associations mined from literature

Literature associating EMG1 and atypical polypoid adenomyoma

EMG1 [ENSP00000470560]

18S rRNA (pseudouridine(1248)-N1)-methyltransferase; S-adenosyl-L-methionine-dependent pseudouridine N(1)- methyltransferase that methylates pseudouridine at position 1248 (Psi1248) in 18S rRNA. Involved the biosynthesis of the hypermodified N1-methyl-N3-(3-amino-3-carboxypropyl) pseudouridine (m1acp3-Psi) conserved in eukaryotic 18S rRNA. Is not able to methylate uridine at this position. Has also an essential role in 40S ribosomal subunit biogenesis independent on its methyltransferase activity, facilitating the incorporation of ribosomal protein S19 during the formation of pre-ribosomes (By similarity); Belongs to the class IV-like SAM-binding methyltransferase superfamily. RNA methyltransferase NEP1 family.

Synonyms:  EMG1,  EMG1p,  hEMG1,  Q92979,  C2F ...

Linkouts:  STRING  Pharos  UniProt