protein
Protein argonaute-1
aka Argonaute1, hAgo1
Gene
AGO1
Organism
Homo sapiens(9606)
Length
857 aa
Mass
97,214 Da
Protein argonaute-1 (AGO1) is an RNA-binding protein essential for RNA-mediated gene silencing, including microRNA (miRNA) and short interfering RNA (siRNA) pathways. It binds short regulatory RNAs and represses translation of complementary mRNAs, while also participating in transcriptional gene silencing of promoter regions (UniProt: Q9UL18). AGO1 functions broadly in post-transcriptional gene regulation across tissues and is linked to neurodevelopmental processes.
AGO1 is associated with neurodevelopmental disorder with language delay and behavioral abnormalities (NEDLBAS), an autosomal dominant condition characterized by developmental delay, intellectual disability, speech and motor delay, and autistic features, with seizures in approximately half of cases (UniProt: Q9UL18, MIM 620292).
In Alzheimer's disease, AGO1 is significantly upregulated in post-mortem AD brain tissue compared to age-matched controls (mean log2 fold-change +0.33), based on quantitative proteomics of four subcellular fractions (Chaparral AD proteomics). This elevation suggests altered miRNA-mediated gene silencing activity may contribute to AD pathology.
Generated from the curated entity record below. May contain errors — verify against source links.
Proteomics Evidence · AD
↑ Up in ADP3
not detected
P2
not detected
S2
+0.327
S3
not detected
Mean log₂FC across detected fractions: +0.3265 (1 of 4 fractions detected)
Human post-mortem AD brain vs age-matched controls, TMT-labeled, 4 subcellular fractions (P2, P3, S2, S3), DDA proteomics.
Related Publications
Browse all →Tau molecular diversity contributes to clinical heterogeneity in Alzheimer's disease.
Dujardin Simon et al.Nature medicine2020PMID 32572268Deep Multilayer Brain Proteomics Identifies Molecular Networks in Alzheimer's Disease Progression.
Bai Bing et al.Neuron2020PMID 31926610A Multi-network Approach Identifies Protein-Specific Co-expression in Asymptomatic and Symptomatic Alzheimer's Disease.
Seyfried Nicholas T et al.Cell systems2017PMID 27989508Large-scale deep multi-layer analysis of Alzheimer's disease brain reveals strong proteomic disease-related changes not observed at the RNA level.
Johnson Erik C B et al.Nature neuroscience2022PMID 35115731Organization and regulation of gene transcription.
Cramer PatrickNature2019PMID 31462772
Function
Required for RNA-mediated gene silencing (RNAi). Binds to short RNAs such as microRNAs (miRNAs) or short interfering RNAs (siRNAs), and represses the translation of mRNAs which are complementary to them. Lacks endonuclease activity and does not appear to cleave target mRNAs. Also required for transcriptional gene silencing (TGS) of promoter regions which are complementary to bound short antigene RNAs (agRNAs)
Disease associations
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizuresNEDLBAS
An autosomal dominant neurodevelopmental disorder characterized by global developmental delay with intellectual disability of varying severity, speech and motor delay, and behavioral abnormalities, including autistic features. About half of patients develop seizures.
Sources
Last updated 5/8/2026, 6:36:08 AM