Gene Gene information from NCBI Gene database.
Entrez ID 26523
Gene name Argonaute RISC component 1
Gene symbol AGO1
Synonyms (NCBI Gene)
EIF2CEIF2C1GERP95NEDLBASQ99hAgo1
Chromosome 1
Chromosome location 1p34.3
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 represse
miRNA miRNA information provided by mirtarbase database.
340
miRTarBase ID miRNA Experiments Reference
MIRT000649 hsa-miR-503-5p Luciferase reporter assay 19956200
MIRT019395 hsa-miR-148b-3p Microarray 17612493
MIRT020233 hsa-miR-130b-3p Sequencing 20371350
MIRT020459 hsa-miR-106b-5p Microarray 17242205
MIRT028161 hsa-miR-93-5p Sequencing 20371350
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SOX4 Unknown 19147588
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
59
GO ID Ontology Definition Evidence Reference
GO:0000932 Component P-body IEA
GO:0000956 Process Nuclear-transcribed mRNA catabolic process IDA 18771919
GO:0000976 Function Transcription cis-regulatory region binding IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0000993 Function RNA polymerase II complex binding IDA 25336585
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606228 3262 ENSG00000092847
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UL18
Protein name Protein argonaute-1 (Argonaute1) (hAgo1) (Argonaute RISC catalytic component 1) (Eukaryotic translation initiation factor 2C 1) (eIF-2C 1) (eIF2C 1) (Putative RNA-binding protein Q99)
Protein 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
PDB 1SI2 , 1SI3 , 4KRE , 4KRF , 4KXT , 5W6V
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16486 ArgoN 34 164 N-terminal domain of argonaute Domain
PF08699 ArgoL1 174 224 Argonaute linker 1 domain Domain
PF02170 PAZ 229 363 PAZ domain Domain
PF16488 ArgoL2 372 418 Argonaute linker 2 domain Family
PF16487 ArgoMid 427 509 Mid domain of argonaute Domain
PF02171 Piwi 515 816 Piwi domain Family
Sequence
MEAGPSGAAAGAYLPPLQQVFQAPRRPGIGTVGKPIKLLANYFEVDIPKIDVYHYEVDIK
PDKCPRRVNREVVEYMVQHFKPQIFGDRKPVYDGKKNIYTVTALPIGNERVDFEVTIPGE
GKDRIFKVSIKWLAIVSWRMLHEALVSGQIPVPLESVQALDVAM
RHLASMRYTPVGRSFF
SPPEGYYHPLGGGREVWFGFHQSVRPAMWKMMLNIDVSATAFYK
AQPVIEFMCEVLDIRN
IDEQPKPLTDSQRVRFTKEIKGLKVEVTHCGQMKRKYRVCNVTRRPASHQTFPLQLESGQ
TVECTVAQYFKQKYNLQLKYPHLPCLQVGQEQKHTYLPLEVCNIVAGQRCIKKLTDNQTS
TMI
KATARSAPDRQEEISRLMKNASYNLDPYIQEFGIKVKDDMTEVTGRVLPAPILQYGG
RNRAIATPNQGVWDMRGKQFYNGIEIKVWAIACFAPQKQCREEVLKNFTDQLRKISKDAG
MPIQGQPCFCKYAQGADSVEPMFRHLKNT
YSGLQLIIVILPGKTPVYAEVKRVGDTLLGM
ATQCVQVKNVVKTSPQTLSNLCLKINVKLGGINNILVPHQRSAVFQQPVIFLGADVTHPP
AGDGKKPSITAVVGSMDAHPSRYCATVRVQRPRQEIIEDLSYMVRELLIQFYKSTRFKPT
RIIFYRDGVPEGQLPQILHYELLAIRDACIKLEKDYQPGITYIVVQKRHHTRLFCADKNE
RIGKSGNIPAGTTVDTNITHPFEFDFYLCSHAGIQGTSRPSHYYVLWDDNRFTADELQIL
TYQLCHTYVRCTRSVSIPAPAYYARLVAFRARYHLV
DKEHDSGEGSHISGQSNGRDPQAL
AKAVQVHQDTLRTMYFA
Sequence length 857
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Pre-NOTCH Transcription and Translation
MicroRNA (miRNA) biogenesis
Oxidative Stress Induced Senescence
Oncogene Induced Senescence
Ca2+ pathway
Small interfering RNA (siRNA) biogenesis
Post-transcriptional silencing by small RNAs
Transcriptional regulation by small RNAs
TP53 Regulates Metabolic Genes
MAPK6/MAPK4 signaling
Transcriptional Regulation by VENTX
Regulation of RUNX1 Expression and Activity
RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
Regulation of PTEN mRNA translation
Competing endogenous RNAs (ceRNAs) regulate PTEN translation
Transcriptional Regulation by MECP2
Estrogen-dependent gene expression
NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
25
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
AGO1-associated disorder Pathogenic rs1645271555 RCV001254059
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AGO1-related disorder Likely pathogenic; Pathogenic rs2148715376 RCV003416406
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AGO1-related neurodevelopmental disorder Likely pathogenic; Pathogenic rs2148711383 RCV003147642
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability Likely pathogenic; Pathogenic rs2148715376, rs2148711374, rs1645264815, rs2148711383, rs2148725560, rs2148726029, rs1645271555 RCV001731166
RCV001837037
RCV001730185
RCV001730186
RCV001731183
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AGO1-related Intellectual disability Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER ClinGen
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 28557556
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism GENOMICS_ENGLAND_DG 29346770
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 34930816 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 23696926, 30284063, 32812257 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 22647351
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 21319996, 29487329 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 25656609, 29857476
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 20721975, 27669275, 30858133
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 23696926 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 22647351
★☆☆☆☆
Found in Text Mining only