DISEASES

Disease-gene associations mined from literature

Literature on DDX21

DDX21 [ENSP00000346120]

Nucleolar RNA helicase 2; RNA helicase that acts as a sensor of the transcriptional status of both RNA polymerase (Pol) I and II: promotes ribosomal RNA (rRNA) processing and transcription from polymerase II (Pol II) . Binds various RNAs, such as rRNAs, snoRNAs, 7SK and, at lower extent, mRNAs . In the nucleolus, localizes to rDNA locus, where it directly binds rRNAs and snoRNAs, and promotes rRNA transcription, processing and modification. Required for rRNA 2'-O-methylation, possibly by promoting the recruitment of late-acting snoRNAs SNORD56 and SNORD58 with pre- ribosomal complexes . In the nucleoplasm, binds 7SK RNA and is recruited to the promoters of Pol II- transcribed genes: acts by facilitating the release of P-TEFb from inhibitory 7SK snRNP in a manner that is dependent on its helicase activity, thereby promoting transcription of its target genes . Functions as cofactor for JUN-activated transcription: required for phosphorylation of JUN at 'Ser-77' . Can unwind double-stranded RNA (helicase) and can fold or introduce a secondary structure to a single- stranded RNA (foldase) . Together with SIRT7, required to prevent R-loop-associated DNA damage and transcription-associated genomic instability: deacetylation by SIRT7 activates the helicase activity, thereby overcoming R-loop-mediated stalling of RNA polymerases . Involved in rRNA processing . May bind to specific miRNA hairpins . Component of a multi-helicase-TICAM1 complex that acts as a cytoplasmic sensor of viral double-stranded RNA (dsRNA) and plays a role in the activation of a cascade of antiviral responses including the induction of proinflammatory cytokines via the adapter molecule TICAM1 (By similarity). ECO:0000269|PubMed:11823437, ECO:0000269|PubMed:14559904, ECO:0000269|PubMed:18180292, ECO:0000269|PubMed:25260534, ECO:0000269|PubMed:25470060, ECO:0000269|PubMed:25477391, ECO:0000269|PubMed:28431233, ECO:0000269|PubMed:28790157,

Synonyms:  DDX21,  DDX21p,  hDDX21,  Q9NR30,  Q9NR30p ...

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