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 promote... See more...

Aliases for AGO1 Gene

Aliases for AGO1 Gene

  • Argonaute RISC Component 1 2 3 5
  • Argonaute RISC Catalytic Component 1 2 3 4
  • Eukaryotic Translation Initiation Factor 2C, 1 2 3
  • Putative RNA-Binding Protein Q99 3 4
  • Protein Argonaute-1 3 4
  • Argonaute1 3 4
  • EIF-2C 1 3 4
  • EIF2C 1 3 4
  • EIF2C1 3 4
  • HAgo1 3 4
  • Eukaryotic Translation Initiation Factor 2C 1 4
  • Golgi Endoplasmic Reticulum Protein 95 KDa 3
  • Argonaute 1, RISC Catalytic Component 3
  • Argonaute 1 2
  • GERP95 3
  • EIF2C 3
  • HAGO1 2
  • AGO1 5
  • Q99 3

External Ids for AGO1 Gene

Previous HGNC Symbols for AGO1 Gene

  • EIF2C1

Previous GeneCards Identifiers for AGO1 Gene

  • GC01P036336

Summaries for AGO1 Gene

Entrez Gene Summary for AGO1 Gene

  • 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]

GeneCards Summary for AGO1 Gene

AGO1 (Argonaute RISC Component 1) is a Protein Coding gene. Diseases associated with AGO1 include Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome and Cervical Non-Keratinizing Squamous Cell Carcinoma. Among its related pathways are RET signaling and Pre-NOTCH Expression and Processing. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is AGO3.

UniProtKB/Swiss-Prot Summary for AGO1 Gene

  • 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).

Gene Wiki entry for AGO1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AGO1 Gene

Genomics for AGO1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AGO1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J035882 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.4 +15.9 15910 6.2 SP1 ZNF207 MYC NCOR1 IKZF1 ZNF592 POLR2A NFIC ZIC2 ZBTB10 AGO1 AGO3 ZMYM4 SFPQ ZMYM6 GPR199P ENSG00000232862 TEKT2 ADPRS C1orf216
GH01J035868 Promoter/Enhancer 1.2 EPDnew ENCODE 250.7 -0.2 -206 1.4 MYC ZNF592 NFIC SMAD5 BHLHE40 MBD2 TBP ZNF341 MNT TAF9B AGO1 MAP7D1 lnc-AGO1-1 AGO4
GH01J036087 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 10.2 +219.3 219345 3 BCLAF1 SP1 ZNF207 ZNF600 MYC SIX5 ZNF580 POLR2A KLF9 ZNF223 ADPRS HSALNG0002541 HSALNG0002547 piR-40176-001 SFPQ ZMYM4 THRAP3 AGO3 STK40 ENSG00000271554
GH01J036370 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 8.6 +504.3 504335 6.1 BCLAF1 SP1 NCOR1 ZNF600 MYC IKZF1 JUND ZNF592 POLR2A CEBPA RF00017-140 CSF3R STK40 AGO3 LSM10 TRAPPC3 RNU4-27P SNORA63C OSCP1 ENSG00000223944
GH01J036148 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 6.1 +288.3 288300 20.1 BCLAF1 SP1 ZNF654 ZNF207 NCOR1 MYC IKZF1 ZNF600 SIX5 SSRP1 MAP7D1 TRAPPC3 SFPQ THRAP3 RPL5P4 AGO3 ZMYM4 EVA1B COL8A2 CSF3R
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AGO1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AGO1

Genomic Locations for AGO1 Gene

Latest Assembly
chr1:35,869,761-35,930,532
(GRCh38/hg38)
Size:
60,772 bases
Orientation:
Plus strand

Previous Assembly
chr1:36,335,362-36,396,133
(GRCh37/hg19 by Entrez Gene)
Size:
60,772 bases
Orientation:
Plus strand

chr1:36,335,409-36,395,211
(GRCh37/hg19 by Ensembl)
Size:
59,803 bases
Orientation:
Plus strand

Genomic View for AGO1 Gene

Genes around AGO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AGO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AGO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AGO1 Gene

Proteins for AGO1 Gene

  • Protein details for AGO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UL18-AGO1_HUMAN
    Recommended name:
    Protein argonaute-1
    Protein Accession:
    Q9UL18
    Secondary Accessions:
    • Q5TA57
    • Q6P4S0

    Protein attributes for AGO1 Gene

    Size:
    857 amino acids
    Molecular mass:
    97214 Da
    Quaternary structure:
    • Interacts with DDB1, DDX5, DDX6, DHX30, DHX36, DDX47, DICER1, AGO2, ELAVL1, HNRNPF, IGF2BP1, ILF3, IMP8, MATR3, MOV10, PABPC1, PRMT5, RBM4, SART3, TNRC6B, UPF1 and YBX1. Associates with polysomes and messenger ribonucleoproteins (mNRPs). Interacts with LIMD1, WTIP and AJUBA. Interacts with APOBEC3F, APOBEC3G and APOBEC3H.
    Miscellaneous:
    • Lacks RNA cleavage activity due to the absence of the conserved His at position 805, but also because it binds the RNA in a subtly different manner that precludes efficient cleavage.

    Three dimensional structures from OCA and Proteopedia for AGO1 Gene

neXtProt entry for AGO1 Gene

Post-translational modifications for AGO1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AGO1 Gene

Domains & Families for AGO1 Gene

Gene Families for AGO1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for AGO1 Gene

InterPro:
Blocks:
  • Argonaute and Dicer protein, PAZ
  • Stem cell self-renewal protein Piwi

Suggested Antigen Peptide Sequences for AGO1 Gene

GenScript: Design optimal peptide antigens:
  • Putative RNA-binding protein Q99 (AGO1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UL18

UniProtKB/Swiss-Prot:

AGO1_HUMAN :
  • Belongs to the argonaute family. Ago subfamily.
Family:
  • Belongs to the argonaute family. Ago subfamily.
genes like me logo Genes that share domains with AGO1: view

Function for AGO1 Gene

Molecular function for AGO1 Gene

UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for AGO1 Gene

Gene Ontology (GO) - Molecular Function for AGO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000993 RNA polymerase II complex binding IDA 25336585
GO:0001046 core promoter sequence-specific DNA binding IMP 25336585
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA,IDA 23809764
GO:0003725 double-stranded RNA binding IDA 19966796
genes like me logo Genes that share ontologies with AGO1: view
genes like me logo Genes that share phenotypes with AGO1: view

Animal Models for AGO1 Gene

MGI Knock Outs for AGO1:
  • Ago1 Ago1<tm1a(KOMP)Wtsi>

miRNA for AGO1 Gene

miRTarBase miRNAs that target AGO1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AGO1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AGO1 Gene

Localization for AGO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AGO1 Gene

Cytoplasm, P-body.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AGO1 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytoplasmic bodies (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AGO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000932 P-body IEA --
GO:0005634 nucleus IC 25336585
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,IDA 15260970
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with AGO1: view

Pathways & Interactions for AGO1 Gene

genes like me logo Genes that share pathways with AGO1: view

Pathways by source for AGO1 Gene

2 Qiagen pathways for AGO1 Gene
  • eIF2 Pathway
  • GSK3 Signaling
1 Cell Signaling Technology pathway for AGO1 Gene

Gene Ontology (GO) - Biological Process for AGO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000956 nuclear-transcribed mRNA catabolic process IDA 18771919
GO:0006417 regulation of translation IEA --
GO:0007223 Wnt signaling pathway, calcium modulating pathway TAS --
GO:0010501 RNA secondary structure unwinding IMP 22795694
GO:0010628 positive regulation of gene expression TAS --
genes like me logo Genes that share ontologies with AGO1: view

No data available for SIGNOR curated interactions for AGO1 Gene

Drugs & Compounds for AGO1 Gene

No Compound Related Data Available

Transcripts for AGO1 Gene

mRNA/cDNA for AGO1 Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AGO1

Alternative Splicing Database (ASD) splice patterns (SP) for AGO1 Gene

No ASD Table

Relevant External Links for AGO1 Gene

GeneLoc Exon Structure for
AGO1

Expression for AGO1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AGO1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AGO1 Gene

This gene is overexpressed in Lymph node (12.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AGO1 Gene



Protein tissue co-expression partners for AGO1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AGO1

SOURCE GeneReport for Unigene cluster for AGO1 Gene:

Hs.22867

Evidence on tissue expression from TISSUES for AGO1 Gene

  • Nervous system(3.3)
  • Heart(3)
  • Kidney(2.5)
  • Skin(2.4)
  • Liver(2.3)
  • Eye(2.2)
  • Intestine(2.2)
  • Blood(2.2)
  • Muscle(2)
genes like me logo Genes that share expression patterns with AGO1: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for AGO1 Gene

Orthologs for AGO1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AGO1 Gene

Organism Taxonomy Gene Similarity Type Details
Oppossum
(Monodelphis domestica)
Mammalia AGO1 30
  • 100 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia EIF2C1 29 30
  • 99.81 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AGO1 29 30
  • 95.64 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EIF2C1 29 30
  • 95.33 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ago1 29 16 30
  • 93.5 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ago1 29
  • 93.39 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia AGO1 30
  • 93 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AGO1 30
  • 100 (a)
OneToOne
EIF2C1 29
  • 83.94 (n)
Lizard
(Anolis carolinensis)
Reptilia AGO1 30
  • 100 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ago4 29
  • 80.98 (n)
Zebrafish
(Danio rerio)
Actinopterygii AGO1 30
  • 96 (a)
OneToOne
LOC570775 29
  • 80.71 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.11707 29
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.5272 29
Species where no ortholog for AGO1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for AGO1 Gene

ENSEMBL:
Gene Tree for AGO1 (if available)
TreeFam:
Gene Tree for AGO1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AGO1: view image
Alliance of Genome Resources:
Additional Orthologs for AGO1

Paralogs for AGO1 Gene

Paralogs for AGO1 Gene

(5) SIMAP similar genes for AGO1 Gene using alignment to 2 proteins:

  • AGO1_HUMAN
  • Q5TA58_HUMAN
genes like me logo Genes that share paralogs with AGO1: view

Variants for AGO1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AGO1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
931247 Uncertain Significance: not provided 35,894,172(+) G/A
NM_012199.5(AGO1):c.784+1G>A
SPLICE_DONOR
976687 Pathogenic: AGO1-associated disorder 35,894,035(+) A/G
NM_012199.5(AGO1):c.650-2A>G
SPLICE_ACCEPTOR
984614 Likely Pathogenic: Neurodevelopmental abnormality 35,893,730(+) T/C
NM_012199.5(AGO1):c.569T>C (p.Leu190Pro)
MISSENSE
992831 Likely Pathogenic: not provided 35,901,526(+) A/G
NM_012199.5(AGO1):c.1073A>G (p.Gln358Arg)
MISSENSE
996886 Uncertain Significance: See cases 35,913,922(+) C/G
NM_012199.5(AGO1):c.1663C>G (p.Pro555Ala)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for AGO1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for AGO1 Gene

Variant ID Type Subtype PubMed ID
esv2746785 CNV deletion 23290073
esv2746796 CNV deletion 23290073
esv2746808 CNV deletion 23290073
nsv471862 CNV novel sequence insertion 20440878
nsv478018 CNV novel sequence insertion 20440878
nsv526837 CNV loss 19592680
nsv834680 CNV gain 17160897

Variation tolerance for AGO1 Gene

Residual Variation Intolerance Score: 2.93% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.31; 6.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AGO1 Gene

Human Gene Mutation Database (HGMD)
AGO1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AGO1
Leiden Open Variation Database (LOVD)
AGO1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AGO1 Gene

Disorders for AGO1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for AGO1 Gene - From: CVR, COP, and GCD

Additional Disease Information for AGO1

genes like me logo Genes that share disorders with AGO1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AGO1 Gene

Publications for AGO1 Gene

  1. Involvement of AGO1 and AGO2 in mammalian transcriptional silencing. (PMID: 16936728) Janowski BA … Corey DR (Nature structural & molecular biology 2006) 2 3 4
  2. Translation repression in human cells by microRNA-induced gene silencing requires RCK/p54. (PMID: 16756390) Chu CY … Rana TM (PLoS biology 2006) 3 4 22
  3. Human eukaryotic initiation factor EIF2C1 gene: cDNA sequence, genomic organization, localization to chromosomal bands 1p34-p35, and expression. (PMID: 10534406) Koesters R … Briner J (Genomics 1999) 2 3 4
  4. Eukaryote-specific insertion elements control human ARGONAUTE slicer activity. (PMID: 23809764) Nakanishi K … Patel DJ (Cell reports 2013) 3 4
  5. The making of a slicer: activation of human Argonaute-1. (PMID: 23746446) Faehnle CR … Joshua-Tor L (Cell reports 2013) 3 4

Products for AGO1 Gene

Sources for AGO1 Gene