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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
AGO1
argonaute RISC component 1
Chromosome 1 Β· 1p34.3
NCBI Gene: 26523Ensembl: ENSG00000092847.14HGNC: HGNC:3262UniProt: A0A6I8PTZ8
168PubMed Papers
21Diseases
0Drugs
16Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneTranscription Factor
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
RNA endonuclease activitymiRNA-mediated gene silencing by mRNA destabilizationsiRNA-mediated gene silencing by mRNA destabilizationnegative regulation of angiogenesisneurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizurescancercomplex neurodevelopmental disorderneurodegenerative disease
✦AI Summary

AGO1 (Argonaute RISC component 1) is a core component of the RNA-induced silencing complex (RISC) that mediates gene silencing through microRNAs (miRNAs) and small interfering RNAs (siRNAs) 1. AGO1 binds small non-coding RNAs and represses translation of complementary mRNAs, though it lacks endonuclease activity 1. Beyond cytoplasmic RNAi functions, AGO1 regulates chr1 architecture by associating with active enhancers and topologically associated domain boundaries, fine-tuning gene expression through changes in 3D chr1 organization 2. AGO1 also functions in transcriptional silencing through small RNA-mediated mechanisms 3. De novo heterozygous coding variants in AGO1 cause a novel monogenic neurodevelopmental disorder (NDD) characterized by intellectual disability, speech and motor delay, autistic behavior, and sometimes seizures 1. These variants likely impair function by altering flexibility of AGO1 linker domains critical for mRNA processing 1. Genetic modeling in C. elegans demonstrates that NDD mutations are antimorphic, causing stronger phenotypes than null mutations by sequestering functional miRISC components into non-functional complexes and disrupting miRNA processing and target repression 4. Additionally, suppression of endothelial AGO1 promotes adipose tissue browning and improves metabolic dysfunction through inhibition of the antiangiogenic cytokine thrombospondin-1 5.

Sources cited
1
De novo AGO1 variants cause neurodevelopmental disorder with intellectual disability, speech/motor delay, autistic behavior; variants alter linker domain flexibility affecting mRNA processing
PMID: 34930816
2
Nuclear AGO1 associates with active enhancers and TAD boundaries; AGO1 depletion alters chromatin architecture and gene expression
PMID: 31629687
3
AGO1 functions in transcriptional regulation and promotes genome instability by binding R-loops at transcription-replication collision sites
PMID: 41161313
4
AGO1 NDD mutations are antimorphic, disrupting miRNA processing and miRISC formation more severely than null mutations
PMID: 38412125
5
Endothelial AGO1 suppression improves metabolic dysfunction and adipose tissue browning through inhibition of thrombospondin-1
PMID: 32393053
Disease Associationsβ“˜21
neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizuresOpen Targets
0.80Strong
cancerOpen Targets
0.47Moderate
complex neurodevelopmental disorderOpen Targets
0.46Moderate
neurodegenerative diseaseOpen Targets
0.44Moderate
genetic disorderOpen Targets
0.41Moderate
Intellectual disabilityOpen Targets
0.40Moderate
developmental disorder of mental healthOpen Targets
0.37Weak
type 1 diabetes mellitusOpen Targets
0.35Weak
essential tremorOpen Targets
0.34Weak
SeizureOpen Targets
0.34Weak
Self-injurious behaviorOpen Targets
0.34Weak
Severe global developmental delayOpen Targets
0.34Weak
Severe intellectual disabilityOpen Targets
0.34Weak
TremorOpen Targets
0.34Weak
Neurodevelopmental abnormalityOpen Targets
0.32Weak
placenta praeviaOpen Targets
0.27Weak
poisoningOpen Targets
0.23Weak
response to xenobiotic stimulusOpen Targets
0.23Weak
schizophreniaOpen Targets
0.18Weak
Neurodevelopmental disorderOpen Targets
0.12Weak
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizuresUniProt
Pathogenic Variants16
NM_012199.5(AGO1):c.595G>A (p.Gly199Ser)Pathogenic
Intellectual disability|not provided|AGO1-related neurodevelopmental disorder|Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
β˜…β˜…β˜†β˜†2025β†’ Residue 199
NM_012199.5(AGO1):c.566C>T (p.Pro189Leu)Likely pathogenic
not provided|Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
β˜…β˜…β˜†β˜†2025β†’ Residue 189
NM_012199.5(AGO1):c.1123GAG[1] (p.Glu376del)Pathogenic
not specified|not provided|AGO1-related disorder|Intellectual disability
β˜…β˜…β˜†β˜†2023β†’ Residue 376
NM_012199.5(AGO1):c.1249C>A (p.Gln417Lys)Likely pathogenic
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
β˜…β˜†β˜†β˜†2025β†’ Residue 417
NM_012199.5(AGO1):c.1066G>A (p.Asp356Asn)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 356
NM_012199.5(AGO1):c.2466-1G>ALikely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025
NM_012199.5(AGO1):c.1594C>T (p.Arg532Cys)Likely pathogenic
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
β˜…β˜†β˜†β˜†2024β†’ Residue 532
NM_012199.5(AGO1):c.1354G>A (p.Ala452Thr)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2023β†’ Residue 452
NM_012199.5(AGO1):c.595G>T (p.Gly199Cys)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2023β†’ Residue 199
NM_012199.5(AGO1):c.583G>A (p.Glu195Lys)Likely pathogenic
Intellectual disability|not provided|Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
β˜…β˜†β˜†β˜†2023β†’ Residue 195
NM_012199.5(AGO1):c.569T>C (p.Leu190Pro)Likely pathogenic
Neurodevelopmental abnormality|Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures|not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 190
NM_012199.5(AGO1):c.650-2A>GPathogenic
AGO1-associated disorder|Intellectual disability
β˜…β˜†β˜†β˜†2020
NM_012199.5(AGO1):c.1067A>G (p.Asp356Gly)Likely pathogenic
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
β˜…β˜†β˜†β˜†β†’ Residue 356
NM_012199.5(AGO1):c.569T>G (p.Leu190Arg)Pathogenic
Intellectual disability|Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
β˜†β˜†β˜†β˜†2023β†’ Residue 190
NM_012199.5(AGO1):c.2389A>T (p.Ile797Phe)Likely pathogenic
Intellectual disability
β˜†β˜†β˜†β˜†β†’ Residue 797
NM_012199.5(AGO1):c.2252A>T (p.His751Leu)Likely pathogenic
Intellectual disability
β˜†β˜†β˜†β˜†β†’ Residue 751
View on ClinVar β†—
Related Genes
DDX6Protein interaction100%DHX9Protein interaction100%EIF4EProtein interaction100%FMR1Protein interaction100%UPF1Protein interaction100%TFDP1Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
99%
Heart
81%
Ovary
64%
Lung
62%
Liver
44%
Gene Interaction Network
Click a node to explore
AGO1DDX6DHX9EIF4EFMR1UPF1TFDP1
PROTEIN STRUCTURE
Preparing viewer…
PDB4KRE Β· 1.75 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.16Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.10 [0.06–0.16]
RankingsWhere AGO1 stands among ~20K protein-coding genes
  • #2,639of 20,598
    Most Researched168 Β· top quartile
  • #2,386of 5,498
    Most Pathogenic Variants16
  • #268of 17,882
    Most Constrained (LOEUF)0.16 Β· top 5%
Genes detectedAGO1
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
PMID: 34930816
J Med Genet Β· 2022
1.00
2
HIV-1 remission following CCR5Ξ”32/Ξ”32 haematopoietic stem-cell transplantation.
PMID: 30836379
Nature Β· 2019
0.90
3
tRNA-derived small RNA, 5'tiRNA-Gly-CCC, promotes skeletal muscle regeneration through the inflammatory response.
PMID: 36755335
J Cachexia Sarcopenia Muscle Β· 2023
0.80
4
Suppression of Endothelial AGO1 Promotes Adipose Tissue Browning and Improves Metabolic Dysfunction.
PMID: 32393053
Circulation Β· 2020
0.70
5
miRNA biogenesis and inherited disorders: clinico-molecular insights.
PMID: 36863945
Trends Genet Β· 2023
0.64