AGO1 gene

The AGO1 gene (AGO1 stands for: Argonaute RISC Component 1) is a protein-coding gene located on chromosome 1p34.3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. An important paralog of this gene is AGO3.

The AGO1 gene encodes a member of the Argonaute family of proteins that associate with small RNAs and play an important role in RNA interference (RNAi) and RNA silencing. The AGO1 protein binds to microRNAs (miRNAs) or small interfering RNAs (siRNAs) and represses the translation of mRNAs that are complementary to them. It is also involved in transcriptional gene silencing (TGS) of promoter regions that are complementary to bound short antigen RNAs (agRNAs) and in the degradation of miRNA-bound mRNA targets. It has been shown that this gene is an authentic stop codon read-through target and that its mRNA can give rise to an additional C-terminally extended isoform by using an alternative in-frame termination codon.

AGO1 has no endonuclease activity and does not appear to cleave target mRNAs. Also required for transcriptional gene silencing (TGS) of promoter regions that are complementary to bound short antigen RNAs (agRNAs).

Diseases associated with AGO1 include.

• Neurodevelopmental Disorder with Language Delay and Behavioral Abnormalities, with or Without Seizures (NEDLBAS) (OMIM: 620292) (Schalk A et al. 2021).

1. Chendrimada TP et al. (2007) MicroRNA silencing through RISC recruitment of eIF6. Nature. 447:823-828.
2. Gregersen LH et al. (2014) MOV10 Is a 5' to 3' RNA helicase contributing to UPF1 mRNA target degradation by translocation along 3' UTRs. Mol Cell 54:573-585.
3. Schalk A et al. (2021) De novo coding variants in the AGO1 gene cause a neurodevelopmental d