AGO1
entrez
26523
canonical
uniprot
Q9UL18
canonical
ensembl
ENSG00000092847
resolver
ensp
ENSP00000362300
resolver
ensp
ENSP00000362302
resolver
ensp
ENSP00000501372
resolver
ensp
ENSP00000580440
resolver
enst
ENST00000373204
resolver
enst
ENST00000373206
resolver
enst
ENST00000674426
resolver
genesymbol
AGO1
resolver
genesymbol_syn
EIF2C1
resolver
hgnc
HGNC:3262
resolver
uniprot
A0A6I8PTZ8
resolver
uniprot
B2RAD8
resolver
uniprot
B3KME0
resolver
uniprot
Q5TA57
resolver
uniprot
Q5TA58
resolver
uniprot
Q6P4S0
resolver
uniprot_entry
A0A6I8PTZ8_HUMAN
resolver
uniprot_entry
AGO1_HUMAN
resolver
uniprot_entry
B2RAD8_HUMAN
resolver
uniprot_entry
B3KME0_HUMAN
resolver
uniprot_entry
Q5TA58_HUMAN
resolver
uniprot_sec
Q5TA57
resolver
uniprot_sec
Q6P4S0
resolver
amino_acid_sequence
MEAGPSGAAAGAYLPPLQQVFQAPRRPGIGTVGKPIKLLANYFEVDIPKIDVYHYEVDIKPDKCPRRVNREVVEYMVQHFKPQIFGDRKPVYDGKKNIYTVTALPIGNERVDFEVTIPGEGKDRIFKVSIKWLAIVSWRMLHEALVSGQIPVPLESVQALDVAMRHLASMRYTPVGRSFFSPPEGYYHPLGGGREVWFGFHQSVRPAMWKMMLNIDVSATAFYKAQPVIEFMCEVLDIRNIDEQPKPLTDSQRVRFTKEIKGLKVEVTHCGQMKRKYRVCNVTRRPASHQTFPLQLESGQTVECTVAQYFKQKYNLQLKYPHLPCLQVGQEQKHTYLPLEVCNIVAGQRCIKKLTDNQTSTMIKATARSAPDRQEEISRLMKNASYNLDPYIQEFGIKVKDDMTEVTGRVLPAPILQYGGRNRAIATPNQGVWDMRGKQFYNGIEIKVWAIACFAPQKQCREEVLKNFTDQLRKISKDAGMPIQGQPCFCKYAQGADSVEPMFRHLKNTYSGLQLIIVILPGKTPVYAEVKRVGDTLLGMATQCVQVKNVVKTSPQTLSNLCLKINVKLGGINNILVPHQRSAVFQQPVIFLGADVTHPPAGDGKKPSITAVVGSMDAHPSRYCATVRVQRPRQEIIEDLSYMVRELLIQFYKSTRFKPTRIIFYRDGVPEGQLPQILHYELLAIRDACIKLEKDYQPGITYIVVQKRHHTRLFCADKNERIGKSGNIPAGTTVDTNITHPFEFDFYLCSHAGIQGTSRPSHYYVLWDDNRFTADELQILTYQLCHTYVRCTRSVSIPAPAYYARLVAFRARYHLVDKEHDSGEGSHISGQSNGRDPQALAKAVQVHQDTLRTMYFA
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures (NEDLBAS) [MIM:620292]: An autosomal dominant neurodevelopmental disorder characterized by global developmental delay with intellectual disability of varying severity, speech and motor delay, and behavioral abnormalities, including autistic features. About half of patients develop seizures. {ECO:0000269|PubMed:23020937, ECO:0000269|PubMed:25356899, ECO:0000269|PubMed:27620904, ECO:0000269|PubMed:30213762, ECO:0000269|PubMed:34930816}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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). {ECO:0000269|PubMed:16289642, ECO:0000269|PubMed:16936728, ECO:0000269|PubMed:18771919}.
uniprot
proteins
mass_dalton
97214
uniprot
proteins
mutagenesis
MUTAGEN 670; /note="P->S: Confers modest RNA cleavage activity; when associated with Q-675 and H-805."; /evidence="ECO:0000269|PubMed:23809764"; MUTAGEN 674; /note="L->F: Confers modest RNA cleavage activity; when associated with H-805."; /evidence="ECO:0000269|PubMed:23746446"; MUTAGEN 675; /note="P->Q: Does not confer enzyme activity by itself. Confers low RNA cleavage activity; when associated with H-805. Confers modest RNA cleavage activity; when associated with S-670 and H-805."; /evidence="ECO:0000269|PubMed:23809764"; MUTAGEN 805; /note="R->H: Does not confer enzyme activity by itself. Confers modest RNA cleavage activity; when associated with F-674."; /evidence="ECO:0000269|PubMed:23746446, ECO:0000269|PubMed:23809764
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated on surface-exposed lysines by a SCF-like E3 ubiquitin-protein ligase complex containing ZSWIM8 during target-directed microRNA degradation (TDMD), a process that mediates degradation of microRNAs (miRNAs). Ubiquitination by the SCF-like E3 ubiquitin-protein ligase complex containing ZSWIM8 leads to its subsequent degradation, thereby exposing miRNAs for degradation. ZSWIM8 recognizes and binds AGO1 when it is engaged with a TDMD target. {ECO:0000250|UniProtKB:Q9UKV8}.
uniprot
proteins
protein_family
Ago subfamily
uniprot
proteins
protein_family
Argonaute family
uniprot
proteins
pubmed
10534406
uniprot
proteins
pubmed
15152257
uniprot
proteins
pubmed
15260970
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16289642
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16756390
uniprot
proteins
pubmed
16936728
uniprot
proteins
pubmed
17932509
uniprot
proteins
pubmed
18771919
uniprot
proteins
pubmed
19167051
uniprot
proteins
pubmed
20616046
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22915799
uniprot
proteins
pubmed
23020937
uniprot
proteins
pubmed
23746446
uniprot
proteins
pubmed
23809764
uniprot
proteins
pubmed
25356899
uniprot
proteins
pubmed
27620904
uniprot
proteins
pubmed
30213762
uniprot
proteins
pubmed
34930816
uniprot
proteins
sequence_length
857
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, P-body {ECO:0000269|PubMed:16289642, ECO:0000269|PubMed:20616046}.
uniprot
proteins