DISEASES

Disease-gene associations mined from literature

Literature associating EMG1 and autosomal recessive nonsyndromic deafness 9

EMG1 [ENSP00000470560]

Ribosomal RNA small subunit methyltransferase NEP1; 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,  A0A087WVM7,  A0A087WWQ2 ...

Linkouts:  STRING  Pharos  UniProt