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AGO1

Chr 1p34.3

argonaute RISC component 1

Aliases:
hAGO1
MANE:
ENST00000373204.6

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Early onset or syndromic epilepsy

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures

    0.80
  • cancer

    0.47
  • complex neurodevelopmental disorder

    0.46
  • neurodegenerative disease

    0.44
  • hereditary disease

    0.41
  • Intellectual disability

    0.40
  • Seizure

    0.34
  • Severe intellectual disability

    0.34
  • Tremor

    0.34
  • Self-injurious behavior

    0.34

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Protein argonaute-1

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)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.