AGO1 (Argonaute RISC Component 1) Gene: Structure, Function, and Clinical Significance
A comprehensive biomedical resource on AGO1, a key regulator of microRNA-mediated gene silencing, including genomic data, expression profiles, disease associations, and mutation landscape.
Gene Information Card
| Symbol | AGO1 |
|---|---|
| Full Name | Argonaute RISC Component 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p34.3 |
| NCBI Gene ID | 26523 ncbi.nlm.nih.gov/gene/26523 |
| Ensembl ID | ENSG00000192870 |
| UniProt ID | Q9UL18 |
| OMIM ID | 606228 |
| HGNC ID | HGNC:3262 |
| Aliases | EIF2C1, hAgo1, MGC102730 |
Description
AGO1 encodes a member of the Argonaute protein family, which are essential components of the RNA-induced silencing complex (RISC). AGO1 binds to microRNAs (miRNAs) and small interfering RNAs (siRNAs) to mediate post-transcriptional gene silencing through mRNA cleavage or translational repression. It plays critical roles in development, cell differentiation, and stress responses. AGO1 is also involved in chromatin remodeling and DNA repair. Dysregulation of AGO1 has been implicated in various cancers and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Altered AGO1 expression affects miRNA processing and gene silencing, promoting oncogenesis or tumor suppression depending on context. | COSMIC; PubMed studies |
| Neurodevelopmental disorders | AGO1 mutations may disrupt miRNA-mediated regulation of neuronal genes, contributing to intellectual disability or autism. | ClinVar; OMIM |
| Viral infections | AGO1 interacts with viral miRNAs or siRNAs, influencing host antiviral defense. | UniProt; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | High | High |
| Testis | High | High |
| Ovary | Medium | Medium |
| Lung | Medium | Medium |
| Liver | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | High | Commonly used for functional studies |
| HeLa | Medium | Cervical cancer cell line |
| MCF7 | Medium | Breast cancer cell line |
| HepG2 | Low | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1340A>G (p.Asp447Gly) | Missense | Rare | Potential impact on miRNA binding; observed in cancer samples |
| c.2345C>T (p.Thr782Met) | Missense | Rare | Reported in neurodevelopmental disorder cases |
| c.1234delA (p.Arg412fs) | Frameshift | Very rare | Loss-of-function; associated with altered gene silencing |
Mutation functional classification
Loss of Function (LOF)
Frameshift or nonsense mutations that truncate the protein, impairing RISC assembly and miRNA-mediated silencing.
Gain of Function (GOF)
Missense mutations that enhance AGO1 stability or binding affinity, potentially leading to excessive gene silencing.
Dominant Negative (DN)
Mutations that disrupt the interaction with other RISC components, interfering with wild-type AGO1 function.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • mRNA binding |
| • endonuclease activity | • protein binding |
| • nucleic acid binding | • cytoplasm |
| • P-body | • RISC complex |
| • regulation of gene expression | • RNA interference |
Pathways
• MicroRNA biogenesis and function
• RNA interference (RNAi)
• Gene silencing
• Post-transcriptional regulation
Protein Summary
AGO1 is a ~97 kDa protein that contains PAZ and PIWI domains. The PAZ domain binds to the 3' end of small RNAs, while the PIWI domain provides endonucleolytic activity for mRNA cleavage. AGO1 interacts with Dicer, TRBP, and other RISC components to facilitate target recognition and silencing. It is ubiquitously expressed but enriched in brain and reproductive tissues. Post-translational modifications, such as phosphorylation, regulate its activity and stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AGO1 Knockout HEK293 Cell Line | EDJ-KQ2301 | Human | 26523 | Details Get a Quote |
| AGO1 Knockout A-549 Cell Line | EDJ-KQ22670 | Human | 26523 | Details Get a Quote |
| AGO1 Knockout HCT 116 Cell Line | EDJ-KQ22671 | Human | 26523 | Details Get a Quote |
| AGO1 Knockout HeLa Cell Line | EDJ-KQ22672 | Human | 26523 | Details Get a Quote |
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