AGO1 Chromosome 1
Argonaute RISC component 1
Upload your DNA to see your personal genotypes for variants in AGO1.
What This Gene Does
This gene encodes a member of the argonaute family of proteins, which associate with small RNAs and have important roles in RNA interference (RNAi) and RNA silencing. This protein binds to microRNAs (miRNAs) or small interfering RNAs (siRNAs) and represses 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 antigene RNAs (agRNAs), as well as in the degradation of miRNA-bound mRNA targets. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study showed this gene to be an authentic stop codon readthrough target, and that its mRNA could give rise to an additional C-terminally extended isoform by use of an alternative in-frame translation termination codon. [provided by RefSeq, Nov 2015]
Gene Info
Gene Group
"RISC loading complex subunits|Argonaute RISC component family"
Locus Type
gene with protein product
Location
1p34.3
Ensembl
ENSG00000092847
Associated Conditions (15)
Inborn genetic diseases
Neurodevelopmental abnormality
See cases
Severe global developmental delay
Severe intellectual disability
Tremor
Self-injurious behavior
Seizure
Neurodevelopmental disorder with language delay and behavioral abnormalities
with or without seizures
AGO1-related Intellectual disability
Intellectual disability
AGO1-related neurodevelopmental disorder
AGO1-associated disorder
AGO1-related disorder
Key Variants
RS1553154062
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neurodevelopmental abnormality, See cases
Health Risk
RS2148725999
Conflicting classifications of pathogenicity
AGO1-related Intellectual disability, AGO1-related Intellectual disability
Health Risk
RS2523866868
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, Neurodevelopmental disorder with language delay and behavioral abnormalities
Health Risk
RS1553154069
Likely pathogenic
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, Neurodevelopmental disorder with language delay and behavioral abnormalities
Health Risk
RS2148711374
Likely pathogenic
Intellectual disability, Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
Health Risk
RS2148711383
Likely pathogenic
Intellectual disability, Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
Health Risk
RS2148725560
Likely pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS2148726029
Likely pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS2523869404
Likely pathogenic
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, Neurodevelopmental disorder with language delay and behavioral abnormalities
Health Risk
RS2523871196
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1645271555
Pathogenic
AGO1-associated disorder, Intellectual disability, AGO1-associated disorder
Health Risk
RS1645264815
Pathogenic/Likely pathogenic
Neurodevelopmental abnormality, Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1553154062 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neurodevelopmental abnormality, See cases |
| RS2148725999 | Health Risk | Conflicting classifications of pathogenicity | AGO1-related Intellectual disability, AGO1-related Intellectual disability |
| RS2523866868 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, Neurodevelopmental disorder with language delay and behavioral abnormalities |
| RS1553154069 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, Neurodevelopmental disorder with language delay and behavioral abnormalities |
| RS2148711374 | Health Risk | Likely pathogenic | Intellectual disability, Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures |
| RS2148711383 | Health Risk | Likely pathogenic | Intellectual disability, Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures |
| RS2148725560 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS2148726029 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS2523869404 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, Neurodevelopmental disorder with language delay and behavioral abnormalities |
| RS2523871196 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1645271555 | Health Risk | Pathogenic | AGO1-associated disorder, Intellectual disability, AGO1-associated disorder |
| RS1645264815 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental abnormality, Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures |
| RS2148715376 | Health Risk | Pathogenic/Likely pathogenic | AGO1-related disorder, Intellectual disability, AGO1-related disorder |