Aliases for AQR Gene
External Ids for AQR Gene
Previous GeneCards Identifiers for AQR Gene
GeneCards Summary for AQR Gene
AQR (Aquarius Intron-Binding Spliceosomal Factor) is a Protein Coding gene. Diseases associated with AQR include Acrofacial Dysostosis 1, Nager Type and Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2. Among its related pathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and Gene Expression. An important paralog of this gene is HELZ2.
UniProtKB/Swiss-Prot Summary for AQR Gene
Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:25599396, PubMed:28502770, PubMed:28076346). Intron-binding spliceosomal protein required to link pre-mRNA splicing and snoRNP (small nucleolar ribonucleoprotein) biogenesis (PubMed:16949364). Plays a key role in position-dependent assembly of intron-encoded box C/D small snoRNP, splicing being required for snoRNP assembly (PubMed:16949364). 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 (PubMed:16949364). Has ATP-dependent RNA helicase activity and can unwind double-stranded RNA molecules with a 3' overhang (in vitro) (PubMed:25599396).