DISEASES

Disease-gene associations mined from literature

Literature on AQR

AQR [ENSP00000156471]

RNA helicase aquarius; Involved in pre-mRNA splicing as component of the spliceosome . Intron-binding spliceosomal protein required to link pre-mRNA splicing and snoRNP (small nucleolar ribonucleoprotein) biogenesis . Plays a key role in position-dependent assembly of intron-encoded box C/D small snoRNP, splicing being required for snoRNP assembly . May act by helping the folding of the snoRNA sequence. Binds to intron of pre-mRNAs in a sequence-independent manner, contacting the region between snoRNA and the branchpoint of introns (40 nucleotides upstream of the branchpoint) during the late stages of splicing . Has ATP-dependent RNA helicase activity and can unwind double-stranded RNA molecules with a 3' overhang (in vitro) . ECO:0000269|PubMed:16949364, ECO:0000269|PubMed:25599396,; Belongs to the CWF11 family.

Synonyms:  AQR,  A0A024R9L1,  H0YH15,  H0YLN9,  O60306 ...

Linkouts:  STRING  Pharos  UniProt  OMIM