Disease-gene associations mined from literature

Literature associating RIOK1 and alcohol-related neurodevelopmental disorder

RIOK1 [ENSP00000369162]

Serine/threonine-protein kinase RIO1; Involved in the final steps of cytoplasmic maturation of the 40S ribosomal subunit. Involved in processing of 18S-E pre- rRNA to the mature 18S rRNA. Required for the recycling of NOB1 and PNO1 from the late 40S precursor. The association with the very late 40S subunit intermediate may involve a translation-like checkpoint point cycle preceeding the binding to the 60S ribosomal subunit (By similarity). Despite the protein kinase domain is proposed to act predominantly as an ATPase (By similarity). The catalytic activity regulates its dynamic association with the 40S subunit (By similarity).

Synonyms:  RIOK1,  RIOK1p,  hRIOK1,  E9PFQ8,  Q9BRS2 ...

Linkouts:  STRING  Pharos  UniProt