AGO1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | AGO1 |
| Official Name | argonaute RISC component 1 [Source:HGNC Symbol;Acc:HGNC:3262] |
| Ensembl ID | ENSG00000092847 |
| Bio databases IDs | |
| Aliases | argonaute RISC component 1, argonaute 1 |
| Synonyms | argonaute RISC catalytic subunit 1, argonaute RISC component 1, EIF2C, EIF2C1, GERP95, hAgo1, NEDLBAS, Q99 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human AGO1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PRP domain
- Argonaute linker 2 domain
- Piwi-like
- N-terminal domain of argonaute
- nucleic acid binding
- enzyme binding
- PAZ domain
- protein binding
- sequence-specific DNA binding
- single-stranded RNA binding
- Piwi domain
- translation regulator
- RNA binding
- Mid domain of argonaute
- double-stranded DNA binding
- Argonaute linker 1 domain
- double-stranded RNA binding
- PAZ
Pathways
Biological processes and signaling networks where the AGO1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- mental retardation
- schizophrenia
- idiopathic pulmonary fibrosis
- hereditary disorder
- neurodevelopmental disorder with language delay and behavioral abnormalities with or without seizures
- lung adenocarcinoma
- lung adenocarcinoma formation
- neurodevelopmental disorder with language delay and behavioral abnormalities without seizures
- neurodevelopmental disorder with language delay and behavioral abnormalities with seizures
role in cell
- expression in
- apoptosis
- accumulation in
- differentiation
- migration
- growth
- proliferation
- binding in
- invasion by
- repression in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- GW body
- cytoplasmic ribonucleoprotein granule
- cytoplasmic mRNA processing body
- Nucleus
- cytoplasmic aggregates
- cytosol
- nucleoplasm
- nucleoli
- rough endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human AGO1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of angiogenesis
- negative regulation of translation involved in gene silencing by miRNA
- posttranscriptional gene silencing by RNA
- pre-miRNA processing
- production of miRNAs involved in gene silencing by miRNA
- nuclear-transcribed mRNA catabolic process
- RNA secondary structure unwinding
- positive regulation of transcription from RNA polymerase II promoter
- small RNA loading onto RISC
- mRNA cleavage involved in gene silencing by miRNA
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- RISC-loading complex
- cytoplasmic mRNA processing body
- cytosol
- RNA-induced silencing complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- miRNA binding
- core promoter sequence-specific DNA binding
- RNA binding
- protein binding
- double-stranded RNA binding
- single-stranded RNA binding
- RNA polymerase II core binding
- endoribonuclease activity