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

Summary

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

Location:: 1p34.3

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (35869761..35930532)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (35732654..35793426)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (36335362..36396133)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
De novo variants in AGO1 recapitulate a heterogeneous neurodevelopmental disorder phenotype.
Title: De novo variants in AGO1 recapitulate a heterogeneous neurodevelopmental disorder phenotype.
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.
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.
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.
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.
RanBP2/Nup358 enhances miRNA activity by sumoylating Argonautes.
Title: RanBP2/Nup358 enhances miRNA activity by sumoylating Argonautes.
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)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH104023 (e-PCR)
- UniSTS:98348

EIF2C1_617 (e-PCR)
- UniSTS:462177

EIF2C1_v617 (e-PCR)
- UniSTS:462177

L18179 (e-PCR)
- UniSTS:74381

SHGC-74594 (e-PCR)
- UniSTS:27796

G64298 (e-PCR)
- UniSTS:158654

G20793 (e-PCR)
- UniSTS:10692

A006G35 (e-PCR)
- UniSTS:10693

SHGC-74590 (e-PCR)
- UniSTS:23542

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	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)

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
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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

35869761..35930532

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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