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AGO1 argonaute RISC component 1 [ Homo sapiens (human) ]

Gene ID: 26523, updated on 7-Apr-2024

Summary

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Official Symbol
AGO1provided by HGNC
Official Full Name
argonaute RISC component 1provided by HGNC
Primary source
HGNC:HGNC:3262
See related
Ensembl:ENSG00000092847 MIM:606228; AllianceGenome:HGNC:3262
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Q99; EIF2C; hAgo1; EIF2C1; GERP95; NEDLBAS
Summary
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]
Expression
Ubiquitous expression in skin (RPKM 4.5), brain (RPKM 3.9) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See AGO1 in Genome Data Viewer
Location:
1p34.3
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (35869761..35930532)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (35732654..35793426)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (36335362..36396133)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 10959 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:36191359-36191542 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:36204140-36205339 Neighboring gene claspin Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 646 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 737 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:36272791-36273290 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 647 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 648 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 738 Neighboring gene argonaute RISC component 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:36315018-36315170 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 649 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr1:36351383-36352022 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 739 Neighboring gene CFAP97 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 740 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:36359789-36360988 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:36396322-36396845 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:36396846-36397370 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:36397371-36397893 Neighboring gene argonaute RISC catalytic component 3 Neighboring gene NANOG hESC enhancer GRCh37_chr1:36474078-36474579 Neighboring gene uncharacterized LOC105378647 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 741 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:36499894-36501093 Neighboring gene magnesium transporter 1 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. De novo variants in AGO1 recapitulate a heterogeneous neurodevelopmental disorder phenotype. Niu Y, et al. Clin Genet, 2022 Apr. PMID 35060114
  2. De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability. Schalk A, et al. J Med Genet, 2022 Oct. PMID 34930816, Free PMC Article
  3. Prevention of dsRNA-induced interferon signaling by AGO1x is linked to breast cancer cell proliferation. Ghosh S, et al. EMBO J, 2020 Sep 15. PMID 32812257, Free PMC Article
  4. Molecular crowding and conserved interface interactions of human argonaute protein-miRNA-target mRNA complex. Chitara D, et al. J Biomol Struct Dyn, 2021 Oct. PMID 32752954
  5. Nuclear role for human Argonaute-1 as an estrogen-dependent transcription coactivator. Gómez Acuña LI, et al. J Cell Biol, 2020 Sep 7. PMID 32673398, Free PMC Article

See all (154) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. LINC01116 modulates EMT process via binding with AGO1 mRNA in oesophageal squamous cell carcinoma.
    Title: LINC01116 modulates EMT process via binding with AGO1 mRNA in oesophageal squamous cell carcinoma.
  2. De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
    Title: De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
  3. Association of Polymorphic Variants in Argonaute Genes with Depression Risk in a Polish Population.
    Title: Association of Polymorphic Variants in Argonaute Genes with Depression Risk in a Polish Population.
  4. De novo variants in AGO1 recapitulate a heterogeneous neurodevelopmental disorder phenotype.
    Title: De novo variants in AGO1 recapitulate a heterogeneous neurodevelopmental disorder phenotype.
  5. LncRNA PVT1 promotes the progression of ovarian cancer by activating TGF-beta pathway via miR-148a-3p/AGO1 axis.
    Title: LncRNA PVT1 promotes the progression of ovarian cancer by activating TGF-β pathway via miR-148a-3p/AGO1 axis.
  6. POU2F2 promotes the proliferation and motility of lung cancer cells by activating AGO1.
    Title: POU2F2 promotes the proliferation and motility of lung cancer cells by activating AGO1.
  7. Molecular crowding and conserved interface interactions of human argonaute protein-miRNA-target mRNA complex.
    Title: Molecular crowding and conserved interface interactions of human argonaute protein-miRNA-target mRNA complex.
  8. Suppression of Endothelial AGO1 Promotes Adipose Tissue Browning and Improves Metabolic Dysfunction.
    Title: Suppression of Endothelial AGO1 Promotes Adipose Tissue Browning and Improves Metabolic Dysfunction.
  9. RanBP2/Nup358 enhances miRNA activity by sumoylating Argonautes.
    Title: RanBP2/Nup358 enhances miRNA activity by sumoylating Argonautes.
  10. Mixed-lineage leukemia protein modulates the loading of <i>let-7a</i> onto AGO1 by recruiting RAN.
    Title: Mixed-lineage leukemia protein modulates the loading of let-7a onto AGO1 by recruiting RAN.
Submit: New GeneRIF Correction See all GeneRIFs (65)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
MedGen: C5830365 OMIM: 620292 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Pr55(Gag) gag HIV-1 Gag co-immunoprecipitates with endogenous AGO1 in 293T cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp686M13167

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables RNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
NOT enables RNA endonuclease activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables RNA polymerase II complex binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables core promoter sequence-specific DNA binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables double-stranded RNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables miRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables miRNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables single-stranded RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables single-stranded RNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in RISC complex assembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in RNA secondary structure unwinding IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in RNA secondary structure unwinding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in miRNA processing IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in miRNA-mediated gene silencing by inhibition of translation IDA
Inferred from Direct Assay
more info
 PubMed 
NOT involved_in miRNA-mediated gene silencing by mRNA destabilization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of angiogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in nuclear-transcribed mRNA catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in pre-miRNA processing IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in pre-miRNA processing IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulatory ncRNA-mediated post-transcriptional gene silencing IBA
Inferred from Biological aspect of Ancestor
more info
  
NOT involved_in siRNA-mediated gene silencing by mRNA destabilization IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in P-body IEA
Inferred from Electronic Annotation
more info
  
part_of RISC complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of RISC complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of RISC-loading complex IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasmic ribonucleoprotein granule IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasmic ribonucleoprotein granule IDA
Inferred from Direct Assay
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IC
Inferred by Curator
more info
 PubMed 

General protein information

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Preferred Names
protein argonaute-1
Names
Golgi Endoplasmic Reticulum protein 95 kDa
argonaute 1, RISC catalytic component
argonaute RISC catalytic component 1
argonaute1
eIF-2C 1
eIF2C 1
eukaryotic translation initiation factor 2C, 1
putative RNA-binding protein Q99

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001317122.2 → NP_001304051.1  protein argonaute-1 isoform 1x

    Status: REVIEWED

    Description
    Transcript Variant: Transcript Variant: This variant (1) represents the predominant transcript and encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (1) results from translation termination at the upstream UGA stop codon, while the longer isoform (1x) results from UGA stop codon readthrough to the downstream UAG termination codon. This RefSeq represents the longer, C-terminally extended isoform (1x). As the UGA stop codon has been reported to specify several alternative amino acids (tryptophan, cysteine, arginine and serine), its location in the longer isoform is denoted by an 'X'.
    Source sequence(s)
    AF093097, AK314148, AL139286, BC063275, CR936823, HY052874
    Consensus CDS
    CCDS90915.1
    UniProtKB/TrEMBL
    A0A6I8PTZ8, B2RAD8
    Related
    ENSP00000501372.1, ENST00000674426.1
    Conserved Domains (5) summary
    PLN03202
    Location:26 → 856
    PLN03202; protein argonaute; Provisional
    cd02846
    Location:225 → 345
    PAZ_argonaute_like; PAZ domain, argonaute_like subfamily. Argonaute is part of the RNA-induced silencing complex (RISC), and is an endonuclease that plays a key role in the RNA interference pathway. The PAZ domain has been named after the proteins Piwi,Argonaut, and Zwille. ...
    cd04657
    Location:390 → 815
    Piwi_ago-like; Piwi_ago-like: PIWI domain, Argonaute-like subfamily. Argonaute is the central component of the RNA-induced silencing complex (RISC) and related complexes. The PIWI domain is the C-terminal portion of Argonaute and consists of two subdomains, one of ...
    pfam08699
    Location:175 → 224
    ArgoL1; Argonaute linker 1 domain
    pfam16486
    Location:26 → 164
    ArgoN; N-terminal domain of argonaute

  2. NM_001317123.2 → NP_001304052.1  protein argonaute-1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate 5' terminal exon, which results in translation initiation from an in-frame, downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AF093097, AK001622, AK314148, AL139286, CR936823
    Consensus CDS
    CCDS81300.1
    UniProtKB/TrEMBL
    B3KME0, Q5TA58
    Related
    ENSP00000362302.1, ENST00000373206.5
    Conserved Domains (4) summary
    cd02846
    Location:150 → 270
    PAZ_argonaute_like; PAZ domain, argonaute_like subfamily. Argonaute is part of the RNA-induced silencing complex (RISC), and is an endonuclease that plays a key role in the RNA interference pathway. The PAZ domain has been named after the proteins Piwi,Argonaut, and Zwille. ...
    cd04657
    Location:315 → 740
    Piwi_ago-like; PIWI domain, Argonaute-like subfamily. Argonaute is the central component of the RNA-induced silencing complex (RISC) and related complexes. The PIWI domain is the C-terminal portion of Argonaute and consists of two subdomains, one of which provides the ...
    pfam08699
    Location:99 → 149
    ArgoL1; Argonaute linker 1 domain
    pfam16486
    Location:15 → 89
    ArgoN; N-terminal domain of argonaute

  3. NM_012199.5 → NP_036331.1  protein argonaute-1 isoform 1

    See identical proteins and their annotated locations for NP_036331.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (1) results from translation termination at the upstream UGA stop codon, while the longer isoform (1x) results from UGA stop codon readthrough to the downstream UAG termination codon. This RefSeq represents the shorter isoform (1).
    Source sequence(s)
    AF093097, AK314148, AL139286, BC063275, CR936823, HY052874
    Consensus CDS
    CCDS398.1
    UniProtKB/Swiss-Prot
    Q5TA57, Q6P4S0, Q9UL18
    UniProtKB/TrEMBL
    B2RAD8
    Related
    ENSP00000362300.4, ENST00000373204.6
    Conserved Domains (4) summary
    cd02846
    Location:225 → 345
    PAZ_argonaute_like; PAZ domain, argonaute_like subfamily. Argonaute is part of the RNA-induced silencing complex (RISC), and is an endonuclease that plays a key role in the RNA interference pathway. The PAZ domain has been named after the proteins Piwi,Argonaut, and Zwille. ...
    cd04657
    Location:390 → 815
    Piwi_ago-like; PIWI domain, Argonaute-like subfamily. Argonaute is the central component of the RNA-induced silencing complex (RISC) and related complexes. The PIWI domain is the C-terminal portion of Argonaute and consists of two subdomains, one of which provides the ...
    pfam08699
    Location:174 → 224
    ArgoL1; Argonaute linker 1 domain
    pfam16486
    Location:34 → 164
    ArgoN; N-terminal domain of argonaute

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    35869761..35930532
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541236.3 → XP_011539538.1  protein argonaute-1 isoform X1

    See identical proteins and their annotated locations for XP_011539538.1

    UniProtKB/TrEMBL
    B2RAD8
    Conserved Domains (4) summary
    cd02846
    Location:225 → 345
    PAZ_argonaute_like; PAZ domain, argonaute_like subfamily. Argonaute is part of the RNA-induced silencing complex (RISC), and is an endonuclease that plays a key role in the RNA interference pathway. The PAZ domain has been named after the proteins Piwi,Argonaut, and Zwille. ...
    cd04657
    Location:390 → 818
    Piwi_ago-like; PIWI domain, Argonaute-like subfamily. Argonaute is the central component of the RNA-induced silencing complex (RISC) and related complexes. The PIWI domain is the C-terminal portion of Argonaute and consists of two subdomains, one of which provides the ...
    pfam08699
    Location:174 → 224
    ArgoL1; Argonaute linker 1 domain
    pfam16486
    Location:34 → 164
    ArgoN; N-terminal domain of argonaute

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    35732654..35793426
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054335969.1 → XP_054191944.1  protein argonaute-1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UL18.3 GenPept UniProtKB/Swiss-Prot:Q9UL18

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