AGO1 (argonaute RISC component 1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: AGO1 (argonaute RISC component 1) Homo sapiens
Analyze
Symbol: AGO1
Name: argonaute RISC component 1
RGD ID: 1312163
HGNC Page HGNC:3262
Description: Enables RNA polymerase II complex binding activity and nucleic acid binding activity. Involved in RNA secondary structure unwinding; negative regulation of angiogenesis; and regulation of gene expression. Located in cytoplasmic ribonucleoprotein granule and cytosol. Part of RISC complex and RISC-loading complex. Implicated in alcohol dependence.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: argonaute 1; argonaute 1, RISC catalytic component; argonaute RISC catalytic component 1; argonaute1; DKFZp686M13167; eIF-2C 1; EIF2C; eIF2C 1; EIF2C1; eukaryotic translation initiation factor 2C, 1; GERP95; Golgi Endoplasmic Reticulum protein 95 kDa; hAgo1; NEDLBAS; protein argonaute-1; putative RNA-binding protein Q99; Q99
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38135,869,761 - 35,930,532 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl135,869,808 - 35,930,532 (+)EnsemblGRCh38hg38GRCh38
GRCh37136,335,362 - 36,396,133 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36136,121,397 - 36,162,486 (+)NCBINCBI36Build 36hg18NCBI36
Build 34136,017,902 - 36,058,992NCBI
Celera134,623,239 - 34,664,327 (+)NCBICelera
Cytogenetic Map1p34.3NCBI
HuRef134,466,263 - 34,506,900 (+)NCBIHuRef
CHM1_1136,465,187 - 36,506,280 (+)NCBICHM1_1
T2T-CHM13v2.0135,732,654 - 35,793,426 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Argonaute proteins at a glance. Ender C and Meister G, J Cell Sci. 2010 Jun 1;123(Pt 11):1819-23.
2. Association of microRNA biogenesis pathway gene variants and alcohol dependence risk. Gedik H, etal., DNA Cell Biol. 2015 Mar;34(3):220-6. doi: 10.1089/dna.2014.2549. Epub 2014 Dec 11.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9417904   PMID:10512872   PMID:10534406   PMID:11726686   PMID:12230974   PMID:12414724   PMID:12477932   PMID:12526743   PMID:12906857   PMID:14702039   PMID:15152257   PMID:15260970  
PMID:15489334   PMID:15908945   PMID:15937477   PMID:16196087   PMID:16289642   PMID:16710414   PMID:16756390   PMID:16936726   PMID:16936728   PMID:17267406   PMID:17400507   PMID:17482383  
PMID:17891150   PMID:17932509   PMID:18345015   PMID:18482256   PMID:18771919   PMID:18779327   PMID:19047128   PMID:19138993   PMID:19167051   PMID:19269368   PMID:19324964   PMID:19380743  
PMID:19383768   PMID:19393748   PMID:19470757   PMID:19716330   PMID:19723326   PMID:19767416   PMID:19851984   PMID:19913121   PMID:19946268   PMID:19966796   PMID:20014101   PMID:20211803  
PMID:20308539   PMID:20616046   PMID:20628086   PMID:20671708   PMID:20721975   PMID:20732906   PMID:20819778   PMID:21145461   PMID:21244100   PMID:21846468   PMID:21873635   PMID:21906983  
PMID:21948796   PMID:21963094   PMID:21988832   PMID:22025453   PMID:22231398   PMID:22474261   PMID:22484317   PMID:22647351   PMID:22658674   PMID:22681889   PMID:22795694   PMID:22858679  
PMID:22915799   PMID:22961379   PMID:23019594   PMID:23426184   PMID:23535175   PMID:23665583   PMID:23696926   PMID:23746446   PMID:23748378   PMID:23809764   PMID:24086155   PMID:24457600  
PMID:24778252   PMID:24816145   PMID:24949972   PMID:25036637   PMID:25313066   PMID:25336585   PMID:25595906   PMID:25656609   PMID:25963833   PMID:26242502   PMID:26318153   PMID:26344197  
PMID:27518285   PMID:27542412   PMID:27669275   PMID:28330616   PMID:28363942   PMID:28555645   PMID:28683311   PMID:28718761   PMID:28781232   PMID:28813667   PMID:29256262   PMID:29395067  
PMID:29487329   PMID:29507755   PMID:29509190   PMID:29845934   PMID:30213762   PMID:30770397   PMID:30858133   PMID:30995489   PMID:30997501   PMID:31330067   PMID:31343991   PMID:31586073  
PMID:31629687   PMID:31666609   PMID:31724726   PMID:31910330   PMID:32143906   PMID:32393053   PMID:32400052   PMID:32673398   PMID:32752954   PMID:32807901   PMID:32812257   PMID:33233493  
PMID:33327713   PMID:33600493   PMID:33832481   PMID:33838681   PMID:33961781   PMID:34244482   PMID:34288373   PMID:34709727   PMID:34732716   PMID:34930816   PMID:35013218   PMID:35060114  
PMID:35140242   PMID:35271311   PMID:35325613   PMID:35709258   PMID:35803934   PMID:36142498   PMID:36215168   PMID:36232890   PMID:36273042   PMID:36736316   PMID:36990227   PMID:37704626  
PMID:38172120  


Genomics

Comparative Map Data
AGO1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38135,869,761 - 35,930,532 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl135,869,808 - 35,930,532 (+)EnsemblGRCh38hg38GRCh38
GRCh37136,335,362 - 36,396,133 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36136,121,397 - 36,162,486 (+)NCBINCBI36Build 36hg18NCBI36
Build 34136,017,902 - 36,058,992NCBI
Celera134,623,239 - 34,664,327 (+)NCBICelera
Cytogenetic Map1p34.3NCBI
HuRef134,466,263 - 34,506,900 (+)NCBIHuRef
CHM1_1136,465,187 - 36,506,280 (+)NCBICHM1_1
T2T-CHM13v2.0135,732,654 - 35,793,426 (+)NCBIT2T-CHM13v2.0
Ago1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394126,328,805 - 126,362,500 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4126,328,805 - 126,362,376 (-)EnsemblGRCm39 Ensembl
GRCm384126,435,012 - 126,468,707 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4126,435,012 - 126,468,583 (-)EnsemblGRCm38mm10GRCm38
MGSCv374126,112,256 - 126,145,665 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364125,941,807 - 125,970,725 (-)NCBIMGSCv36mm8
Celera4124,771,815 - 124,805,219 (-)NCBICelera
Cytogenetic Map4D2.2NCBI
cM Map460.76NCBI
Ago1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85144,006,618 - 144,064,740 (-)NCBIGRCr8
mRatBN7.25138,722,111 - 138,757,118 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5138,722,111 - 138,773,546 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5141,419,895 - 141,454,732 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05143,189,892 - 143,224,724 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05143,190,669 - 143,225,508 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05144,444,390 - 144,479,430 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5144,448,792 - 144,479,306 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05148,214,328 - 148,246,407 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45145,797,436 - 145,829,516 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15145,806,727 - 145,840,972 (-)NCBI
Celera5137,218,551 - 137,248,255 (-)NCBICelera
Cytogenetic Map5q36NCBI
Ago1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545213,934,346 - 13,968,624 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545213,935,028 - 13,967,281 (+)NCBIChiLan1.0ChiLan1.0
AGO1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21190,922,849 - 190,963,905 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11190,038,742 - 190,085,087 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0135,148,984 - 35,196,252 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1136,324,733 - 36,370,798 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl136,324,733 - 36,360,832 (+)Ensemblpanpan1.1panPan2
AGO1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1156,258,359 - 6,294,911 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl156,263,882 - 6,295,338 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha156,501,590 - 6,538,192 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0156,394,522 - 6,431,156 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl156,395,742 - 6,431,512 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1156,247,517 - 6,284,126 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0156,321,049 - 6,352,856 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0156,330,625 - 6,367,229 (-)NCBIUU_Cfam_GSD_1.0
AGO1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl691,984,303 - 92,215,149 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1692,038,104 - 92,076,477 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2685,325,648 - 85,365,454 (+)NCBISscrofa10.2Sscrofa10.2susScr3
AGO1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12096,929,985 - 96,971,074 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2096,934,659 - 96,971,014 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603319,754,613 - 19,801,453 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ago1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476418,904,639 - 18,940,594 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476418,904,607 - 18,940,594 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AGO1
58 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_012199.2(AGO1):c.1021-1826G>T single nucleotide variant Lung cancer [RCV000090818] Chr1:35899648 [GRCh38]
Chr1:36365249 [GRCh37]
Chr1:1p34.3
uncertain significance
GRCh38/hg38 1p34.3(chr1:34753938-36055310)x1 copy number loss See cases [RCV000137966] Chr1:34753938..36055310 [GRCh38]
Chr1:35219539..36520911 [GRCh37]
Chr1:34992126..36293498 [NCBI36]
Chr1:1p34.3
likely pathogenic
GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 copy number gain See cases [RCV000138891] Chr1:24381206..41401517 [GRCh38]
Chr1:24707696..41886350 [GRCh37]
Chr1:24580283..41658937 [NCBI36]
Chr1:1p36.11-34.2
pathogenic
Single allele deletion Gestational diabetes mellitus uncontrolled [RCV000161159] Chr1:35902179..35922053 [GRCh38]
Chr1:36367780..36387654 [GRCh37]
Chr1:1p34.3
not provided
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
NM_012199.5(AGO1):c.2530G>C (p.Val844Leu) single nucleotide variant not provided [RCV003321241] Chr1:35919563 [GRCh38]
Chr1:36385164 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.73C>G (p.Arg25Gly) single nucleotide variant not provided [RCV000420638] Chr1:35888474 [GRCh38]
Chr1:36354075 [GRCh37]
Chr1:1p34.3
uncertain significance
GRCh37/hg19 1p34.3(chr1:34830287-36945093)x1 copy number loss See cases [RCV000448022] Chr1:34830287..36945093 [GRCh37]
Chr1:1p34.3
pathogenic
GRCh37/hg19 1p34.3(chr1:35950860-36465764)x1 copy number loss See cases [RCV000448765] Chr1:35950860..36465764 [GRCh37]
Chr1:1p34.3
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease dominant intermediate C [RCV000708276] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del) microsatellite Inborn genetic diseases [RCV000624497]|Neurodevelopmental abnormality [RCV001264693]|Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures [RCV003155252]|See cases [RCV001420239]|Seizure [RCV002286416]|not provided [RCV000678336] Chr1:35893695..35893697 [GRCh38]
Chr1:36359296..36359298 [GRCh37]
Chr1:1p34.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_012199.5(AGO1):c.566C>T (p.Pro189Leu) single nucleotide variant not provided [RCV000660582] Chr1:35893727 [GRCh38]
Chr1:36359328 [GRCh37]
Chr1:1p34.3
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p35.2-34.3(chr1:31562164-37421958)x3 copy number gain not provided [RCV000748949] Chr1:31562164..37421958 [GRCh37]
Chr1:1p35.2-34.3
pathogenic
NM_012199.5(AGO1):c.1599C>T (p.Val533=) single nucleotide variant not provided [RCV000978349] Chr1:35913858 [GRCh38]
Chr1:36379459 [GRCh37]
Chr1:1p34.3
likely benign
NM_012199.5(AGO1):c.1512G>T (p.Arg504=) single nucleotide variant not provided [RCV000915512] Chr1:35907049 [GRCh38]
Chr1:36372650 [GRCh37]
Chr1:1p34.3
likely benign
NM_012199.5(AGO1):c.765C>T (p.Arg255=) single nucleotide variant not provided [RCV000905702] Chr1:35894152 [GRCh38]
Chr1:36359753 [GRCh37]
Chr1:1p34.3
likely benign
NM_012199.5(AGO1):c.1698T>C (p.Asn566=) single nucleotide variant not provided [RCV000943860] Chr1:35913957 [GRCh38]
Chr1:36379558 [GRCh37]
Chr1:1p34.3
likely benign
NM_012199.5(AGO1):c.2112G>A (p.Val704=) single nucleotide variant not provided [RCV000879533] Chr1:35917676 [GRCh38]
Chr1:36383277 [GRCh37]
Chr1:1p34.3
likely benign
GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915) copy number loss not provided [RCV000767772] Chr1:32859415..36454915 [GRCh37]
Chr1:1p35.1-34.3
pathogenic
NM_012199.5(AGO1):c.432C>G (p.Ala144=) single nucleotide variant not provided [RCV000898216] Chr1:35893198 [GRCh38]
Chr1:36358799 [GRCh37]
Chr1:1p34.3
benign
NM_012199.5(AGO1):c.1173C>T (p.Tyr391=) single nucleotide variant not provided [RCV000879371] Chr1:35901980 [GRCh38]
Chr1:36367581 [GRCh37]
Chr1:1p34.3
likely benign
NM_012199.5(AGO1):c.165C>T (p.Tyr55=) single nucleotide variant not provided [RCV000970166] Chr1:35888566 [GRCh38]
Chr1:36354167 [GRCh37]
Chr1:1p34.3
benign
NM_012199.5(AGO1):c.33C>T (p.Gly11=) single nucleotide variant not provided [RCV000921347] Chr1:35888434 [GRCh38]
Chr1:36354035 [GRCh37]
Chr1:1p34.3
likely benign
NM_012199.5(AGO1):c.1014C>G (p.Pro338=) single nucleotide variant not provided [RCV000903673] Chr1:35895263 [GRCh38]
Chr1:36360864 [GRCh37]
Chr1:1p34.3
likely benign
NM_012199.5(AGO1):c.183G>C (p.Pro61=) single nucleotide variant not provided [RCV000893538] Chr1:35888584 [GRCh38]
Chr1:36354185 [GRCh37]
Chr1:1p34.3
benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
NM_012199.5(AGO1):c.2347C>T (p.Gln783Ter) single nucleotide variant not provided [RCV000993969] Chr1:35919136 [GRCh38]
Chr1:36384737 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.784+1G>A single nucleotide variant not provided [RCV001197640] Chr1:35894172 [GRCh38]
Chr1:36359773 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.2135G>A (p.Arg712His) single nucleotide variant not provided [RCV003231698] Chr1:35917699 [GRCh38]
Chr1:36383300 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.2342C>T (p.Thr781Met) single nucleotide variant AGO1-related Intellectual disability [RCV001839054]|not specified [RCV001650482] Chr1:35919131 [GRCh38]
Chr1:36384732 [GRCh37]
Chr1:1p34.3
likely pathogenic|uncertain significance
NM_012199.5(AGO1):c.183G>A (p.Pro61=) single nucleotide variant not provided [RCV000974593] Chr1:35888584 [GRCh38]
Chr1:36354185 [GRCh37]
Chr1:1p34.3
benign
NM_012199.5(AGO1):c.1980C>T (p.Thr660=) single nucleotide variant not provided [RCV000907267] Chr1:35915494 [GRCh38]
Chr1:36381095 [GRCh37]
Chr1:1p34.3
likely benign
NM_012199.5(AGO1):c.1482G>A (p.Gln494=) single nucleotide variant not provided [RCV000931014] Chr1:35907019 [GRCh38]
Chr1:36372620 [GRCh37]
Chr1:1p34.3
likely benign
NM_012199.5(AGO1):c.1257C>T (p.Gly419=) single nucleotide variant not provided [RCV000886896] Chr1:35902064 [GRCh38]
Chr1:36367665 [GRCh37]
Chr1:1p34.3
benign
NM_012199.5(AGO1):c.2088C>T (p.Tyr696=) single nucleotide variant not provided [RCV000906228] Chr1:35917652 [GRCh38]
Chr1:36383253 [GRCh37]
Chr1:1p34.3
benign
NM_012199.5(AGO1):c.1923C>G (p.Ser641=) single nucleotide variant not provided [RCV000890502] Chr1:35915437 [GRCh38]
Chr1:36381038 [GRCh37]
Chr1:1p34.3
likely benign
NM_012199.5(AGO1):c.2129A>T (p.His710Leu) single nucleotide variant not provided [RCV002467056] Chr1:35917693 [GRCh38]
Chr1:36383294 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.1123GAG[1] (p.Glu376del) microsatellite AGO1-related condition [RCV003416406]|Intellectual disability [RCV001731166]|not provided [RCV003328680]|not specified [RCV001650475] Chr1:35901574..35901576 [GRCh38]
Chr1:36367175..36367177 [GRCh37]
Chr1:1p34.3
pathogenic|likely pathogenic|uncertain significance
NM_012199.5(AGO1):c.650-2A>G single nucleotide variant AGO1-associated disorder [RCV001254059]|Intellectual disability [RCV001731153] Chr1:35894035 [GRCh38]
Chr1:36359636 [GRCh37]
Chr1:1p34.3
pathogenic|likely pathogenic
NM_012199.5(AGO1):c.1663C>G (p.Pro555Ala) single nucleotide variant See cases [RCV001291698] Chr1:35913922 [GRCh38]
Chr1:36379523 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.569T>C (p.Leu190Pro) single nucleotide variant Neurodevelopmental abnormality [RCV001264711]|Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures [RCV003155383]|not provided [RCV003321817] Chr1:35893730 [GRCh38]
Chr1:36359331 [GRCh37]
Chr1:1p34.3
pathogenic|likely pathogenic
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease, dominant intermediate C [RCV001308684] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1
uncertain significance
NM_012199.5(AGO1):c.1073A>G (p.Gln358Arg) single nucleotide variant not provided [RCV001281588] Chr1:35901526 [GRCh38]
Chr1:36367127 [GRCh37]
Chr1:1p34.3
pathogenic|likely pathogenic
NM_012199.5(AGO1):c.758G>A (p.Arg253His) single nucleotide variant Intellectual disability [RCV001730187]|not provided [RCV001773777] Chr1:35894145 [GRCh38]
Chr1:36359746 [GRCh37]
Chr1:1p34.3
likely pathogenic|uncertain significance
NM_012199.5(AGO1):c.583G>A (p.Glu195Lys) single nucleotide variant Intellectual disability [RCV001837037]|Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures [RCV003155422]|not provided [RCV003328681] Chr1:35893744 [GRCh38]
Chr1:36359345 [GRCh37]
Chr1:1p34.3
pathogenic|likely pathogenic
NM_012199.5(AGO1):c.595G>A (p.Gly199Ser) single nucleotide variant AGO1-related neurodevelopmental disorder [RCV003147642]|Intellectual disability [RCV001730186]|Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures [RCV003155424]|not provided [RCV001821970] Chr1:35893756 [GRCh38]
Chr1:36359357 [GRCh37]
Chr1:1p34.3
pathogenic|likely pathogenic
NM_012199.5(AGO1):c.1802C>T (p.Ala601Val) single nucleotide variant not specified [RCV002246948] Chr1:35914243 [GRCh38]
Chr1:36379844 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.760G>A (p.Val254Ile) single nucleotide variant Intellectual disability [RCV001731182]|Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures [RCV003155425]|not provided [RCV001786517] Chr1:35894147 [GRCh38]
Chr1:36359748 [GRCh37]
Chr1:1p34.3
pathogenic|likely pathogenic|uncertain significance
NM_012199.5(AGO1):c.569T>G (p.Leu190Arg) single nucleotide variant Intellectual disability [RCV001730185]|Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures [RCV003155423] Chr1:35893730 [GRCh38]
Chr1:36359331 [GRCh37]
Chr1:1p34.3
pathogenic|likely pathogenic
NM_012199.5(AGO1):c.2389A>T (p.Ile797Phe) single nucleotide variant Intellectual disability [RCV001731184] Chr1:35919178 [GRCh38]
Chr1:36384779 [GRCh37]
Chr1:1p34.3
likely pathogenic
NM_012199.5(AGO1):c.25+7G>A single nucleotide variant not specified [RCV002246907] Chr1:35883453 [GRCh38]
Chr1:36349054 [GRCh37]
Chr1:1p34.3
benign
NM_012199.5(AGO1):c.1217T>C (p.Val406Ala) single nucleotide variant Neurodevelopmental disorder [RCV002272870] Chr1:35902024 [GRCh38]
Chr1:36367625 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.591G>T (p.Trp197Cys) single nucleotide variant not provided [RCV001772482] Chr1:35893752 [GRCh38]
Chr1:36359353 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.907G>A (p.Glu303Lys) single nucleotide variant not provided [RCV001765764] Chr1:35895156 [GRCh38]
Chr1:36360757 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.1111C>T (p.Pro371Ser) single nucleotide variant not provided [RCV001773824] Chr1:35901564 [GRCh38]
Chr1:36367165 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.2081del (p.Lys694fs) deletion not provided [RCV001771003] Chr1:35917642 [GRCh38]
Chr1:36383243 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.1436C>T (p.Ala479Val) single nucleotide variant not provided [RCV001771449] Chr1:35906973 [GRCh38]
Chr1:36372574 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.1160A>T (p.Asn387Ile) single nucleotide variant not provided [RCV001758597] Chr1:35901967 [GRCh38]
Chr1:36367568 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.2252A>T (p.His751Leu) single nucleotide variant Intellectual disability [RCV001731183] Chr1:35918410 [GRCh38]
Chr1:36384011 [GRCh37]
Chr1:1p34.3
likely pathogenic
NM_012199.5(AGO1):c.2368del (p.Arg790fs) deletion not provided [RCV001757002] Chr1:35919157 [GRCh38]
Chr1:36384758 [GRCh37]
Chr1:1p34.3
uncertain significance
GRCh37/hg19 1p35.1-33(chr1:33285582-47891811) copy number gain not specified [RCV002052781] Chr1:33285582..47891811 [GRCh37]
Chr1:1p35.1-33
pathogenic
GRCh37/hg19 1p34.3(chr1:36041366-39112237) copy number loss not specified [RCV002053236] Chr1:36041366..39112237 [GRCh37]
Chr1:1p34.3
uncertain significance
GRCh37/hg19 1p34.3(chr1:35950860-36635695) copy number gain not specified [RCV002053225] Chr1:35950860..36635695 [GRCh37]
Chr1:1p34.3
uncertain significance
GRCh37/hg19 1p34.3(chr1:35950860-36465764) copy number loss not specified [RCV002053205] Chr1:35950860..36465764 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.1354G>A (p.Ala452Thr) single nucleotide variant Inborn genetic diseases [RCV003275815] Chr1:35902294 [GRCh38]
Chr1:36367895 [GRCh37]
Chr1:1p34.3
likely pathogenic
NM_012199.5(AGO1):c.1406C>G (p.Thr469Arg) single nucleotide variant not provided [RCV003237064] Chr1:35906943 [GRCh38]
Chr1:36372544 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.2122C>T (p.Arg708Cys) single nucleotide variant not provided [RCV002260831] Chr1:35917686 [GRCh38]
Chr1:36383287 [GRCh37]
Chr1:1p34.3
uncertain significance
GRCh37/hg19 1p34.3(chr1:35104233-37357913)x1 copy number loss not provided [RCV002474552] Chr1:35104233..37357913 [GRCh37]
Chr1:1p34.3
pathogenic
NM_012199.5(AGO1):c.521C>T (p.Pro174Leu) single nucleotide variant not provided [RCV003235892] Chr1:35893682 [GRCh38]
Chr1:36359283 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.595G>T (p.Gly199Cys) single nucleotide variant Inborn genetic diseases [RCV002356036] Chr1:35893756 [GRCh38]
Chr1:36359357 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.*10G>A single nucleotide variant not provided [RCV002508443] Chr1:35919617 [GRCh38]
Chr1:36385218 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.853C>T (p.Arg285Cys) single nucleotide variant not provided [RCV002608188] Chr1:35894383 [GRCh38]
Chr1:36359984 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.442G>A (p.Gly148Ser) single nucleotide variant Inborn genetic diseases [RCV003200768] Chr1:35893208 [GRCh38]
Chr1:36358809 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.1243A>G (p.Ile415Val) single nucleotide variant Inborn genetic diseases [RCV003180368] Chr1:35902050 [GRCh38]
Chr1:36367651 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.739C>A (p.Pro247Thr) single nucleotide variant Inborn genetic diseases [RCV003221149] Chr1:35894126 [GRCh38]
Chr1:36359727 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.2042A>T (p.Glu681Val) single nucleotide variant not provided [RCV003219039] Chr1:35917606 [GRCh38]
Chr1:36383207 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.644T>C (p.Ile215Thr) single nucleotide variant not provided [RCV003321421] Chr1:35893805 [GRCh38]
Chr1:36359406 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.913A>G (p.Thr305Ala) single nucleotide variant Inborn genetic diseases [RCV003262471] Chr1:35895162 [GRCh38]
Chr1:36360763 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.513-1G>A single nucleotide variant not provided [RCV003328902] Chr1:35893673 [GRCh38]
Chr1:36359274 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.*10686T>C single nucleotide variant not provided [RCV003387618] Chr1:35930293 [GRCh38]
Chr1:36395894 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.1376A>G (p.Gln459Arg) single nucleotide variant Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures [RCV003330374] Chr1:35902316 [GRCh38]
Chr1:36367917 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.1637A>G (p.Gln546Arg) single nucleotide variant Inborn genetic diseases [RCV003344293] Chr1:35913896 [GRCh38]
Chr1:36379497 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.1574C>T (p.Pro525Leu) single nucleotide variant Inborn genetic diseases [RCV003354882] Chr1:35907111 [GRCh38]
Chr1:36372712 [GRCh37]
Chr1:1p34.3
uncertain significance
Single allele inversion Bilateral polymicrogyria [RCV003459046] Chr1:33246132..61045156 [GRCh38]
Chr1:1p35.1-31.3
likely pathogenic
NM_012199.5(AGO1):c.1136G>A (p.Arg379His) single nucleotide variant Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures [RCV003448639] Chr1:35901589 [GRCh38]
Chr1:36367190 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.77G>A (p.Arg26Gln) single nucleotide variant AGO1-related condition [RCV003405884] Chr1:35888478 [GRCh38]
Chr1:36354079 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.496C>T (p.His166Tyr) single nucleotide variant AGO1-related condition [RCV003405806] Chr1:35893262 [GRCh38]
Chr1:36358863 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.1135C>T (p.Arg379Cys) single nucleotide variant not provided [RCV003443549] Chr1:35901588 [GRCh38]
Chr1:36367189 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.2132C>T (p.Thr711Ile) single nucleotide variant not provided [RCV003443431] Chr1:35917696 [GRCh38]
Chr1:36383297 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.2163+5G>A single nucleotide variant not provided [RCV003442680] Chr1:35917732 [GRCh38]
Chr1:36383333 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.2246G>A (p.Cys749Tyr) single nucleotide variant AGO1-related condition [RCV003392993] Chr1:35918404 [GRCh38]
Chr1:36384005 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.614G>T (p.Arg205Leu) single nucleotide variant not specified [RCV003388363] Chr1:35893775 [GRCh38]
Chr1:36359376 [GRCh37]
Chr1:1p34.3
uncertain significance
NM_012199.5(AGO1):c.747G>A (p.Thr249=) single nucleotide variant not provided [RCV003406335] Chr1:35894134 [GRCh38]
Chr1:36359735 [GRCh37]
Chr1:1p34.3
likely benign
NM_012199.5(AGO1):c.1209G>A (p.Met403Ile) single nucleotide variant Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures [RCV003764494] Chr1:35902016 [GRCh38]
Chr1:36367617 [GRCh37]
Chr1:1p34.3
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR107hsa-miR-107Mirecordsexternal_info{changed}NA20042474

Predicted Target Of
Summary Value
Count of predictions:5878
Count of miRNA genes:1388
Interacting mature miRNAs:1864
Transcripts:ENST00000373204, ENST00000373206
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
L18179  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37136,388,020 - 36,388,264UniSTSGRCh37
Build 36136,160,607 - 36,160,851RGDNCBI36
Celera134,662,448 - 34,662,692RGD
Cytogenetic Map1p34.3UniSTS
HuRef134,505,021 - 34,505,265UniSTS
RH104023  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37136,386,210 - 36,386,370UniSTSGRCh37
Build 36136,158,797 - 36,158,957RGDNCBI36
Celera134,660,638 - 34,660,798RGD
Cytogenetic Map1p34.3UniSTS
HuRef134,503,211 - 34,503,371UniSTS
GeneMap99-GB4 RH Map1111.15UniSTS
G64298  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37136,389,763 - 36,389,896UniSTSGRCh37
Build 36136,162,350 - 36,162,483RGDNCBI36
Celera134,664,191 - 34,664,324RGD
Cytogenetic Map1p34.3UniSTS
HuRef134,506,764 - 34,506,897UniSTS
G20793  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37136,389,636 - 36,389,884UniSTSGRCh37
Build 36136,162,223 - 36,162,471RGDNCBI36
Celera134,664,064 - 34,664,312RGD
Cytogenetic Map1p34.3UniSTS
HuRef134,506,637 - 34,506,885UniSTS
A006G35  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37136,389,636 - 36,389,884UniSTSGRCh37
Build 36136,162,223 - 36,162,471RGDNCBI36
Celera134,664,064 - 34,664,312RGD
Cytogenetic Map1p34.3UniSTS
HuRef134,506,637 - 34,506,885UniSTS
GeneMap99-GB4 RH Map1108.11UniSTS
NCBI RH Map1230.0UniSTS
SHGC-74590  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37136,387,865 - 36,387,965UniSTSGRCh37
Build 36136,160,452 - 36,160,552RGDNCBI36
Celera134,662,293 - 34,662,393RGD
Cytogenetic Map1p34.3UniSTS
HuRef134,504,866 - 34,504,966UniSTS
TNG Radiation Hybrid Map117156.0UniSTS
GeneMap99-GB4 RH Map1110.22UniSTS
NCBI RH Map1221.8UniSTS
SHGC-74594  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37136,389,367 - 36,389,514UniSTSGRCh37
Build 36136,161,954 - 36,162,101RGDNCBI36
Celera134,663,795 - 34,663,942RGD
Cytogenetic Map1p34.3UniSTS
HuRef134,506,368 - 34,506,515UniSTS
TNG Radiation Hybrid Map117156.0UniSTS
GeneMap99-GB4 RH Map1110.58UniSTS
NCBI RH Map1251.9UniSTS
EIF2C1_617  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37136,385,677 - 36,386,574UniSTSGRCh37
Build 36136,158,264 - 36,159,161RGDNCBI36
Celera134,660,105 - 34,661,002RGD
HuRef134,502,678 - 34,503,575UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 515 902 512 42 976 37 1859 176 1242 129 842 741 17 107 1237 3
Low 1924 2078 1212 580 968 426 2497 2017 2492 290 618 872 158 1 1097 1551 3 2
Below cutoff 11 2 2 7 2 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001317122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001317123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF093097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK002003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR936823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX781765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY052874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U92986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000373204   ⟹   ENSP00000362300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl135,883,209 - 35,930,532 (+)Ensembl
RefSeq Acc Id: ENST00000373206   ⟹   ENSP00000362302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl135,869,808 - 35,920,958 (+)Ensembl
RefSeq Acc Id: ENST00000635259   ⟹   ENSP00000489254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl135,892,580 - 35,920,019 (+)Ensembl
RefSeq Acc Id: ENST00000674304   ⟹   ENSP00000501450
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl135,883,209 - 35,924,298 (+)Ensembl
RefSeq Acc Id: ENST00000674426   ⟹   ENSP00000501372
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl135,883,209 - 35,930,532 (+)Ensembl
RefSeq Acc Id: ENST00000699841   ⟹   ENSP00000514639
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl135,883,311 - 35,921,177 (+)Ensembl
RefSeq Acc Id: ENST00000699842   ⟹   ENSP00000514640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl135,883,352 - 35,920,939 (+)Ensembl
RefSeq Acc Id: ENST00000699843   ⟹   ENSP00000514641
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl135,883,362 - 35,920,877 (+)Ensembl
RefSeq Acc Id: ENST00000699844   ⟹   ENSP00000514642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl135,888,605 - 35,921,149 (+)Ensembl
RefSeq Acc Id: NM_001317122   ⟹   NP_001304051
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38135,883,209 - 35,930,532 (+)NCBI
CHM1_1136,465,173 - 36,506,281 (+)NCBI
T2T-CHM13v2.0135,746,102 - 35,793,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001317123   ⟹   NP_001304052
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38135,869,761 - 35,930,532 (+)NCBI
CHM1_1136,451,786 - 36,506,281 (+)NCBI
T2T-CHM13v2.0135,732,654 - 35,793,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_012199   ⟹   NP_036331
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38135,883,209 - 35,930,532 (+)NCBI
GRCh37136,335,412 - 36,395,211 (+)NCBI
Build 36136,121,397 - 36,162,486 (+)NCBI Archive
HuRef134,466,263 - 34,506,900 (+)ENTREZGENE
CHM1_1136,465,173 - 36,506,281 (+)NCBI
T2T-CHM13v2.0135,746,102 - 35,793,426 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011541236   ⟹   XP_011539538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38135,883,209 - 35,930,532 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054335969   ⟹   XP_054191944
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0135,746,102 - 35,793,426 (+)NCBI
RefSeq Acc Id: NP_036331   ⟸   NM_012199
- Peptide Label: isoform 1
- UniProtKB: Q5TA57 (UniProtKB/Swiss-Prot),   Q6P4S0 (UniProtKB/Swiss-Prot),   Q9UL18 (UniProtKB/Swiss-Prot),   B2RAD8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011539538   ⟸   XM_011541236
- Peptide Label: isoform X1
- UniProtKB: B2RAD8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001304052   ⟸   NM_001317123
- Peptide Label: isoform 2
- UniProtKB: B3KME0 (UniProtKB/TrEMBL),   Q5TA58 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001304051   ⟸   NM_001317122
- Peptide Label: isoform 1x
- UniProtKB: B2RAD8 (UniProtKB/TrEMBL),   A0A6I8PTZ8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000501372   ⟸   ENST00000674426
RefSeq Acc Id: ENSP00000501450   ⟸   ENST00000674304
RefSeq Acc Id: ENSP00000489254   ⟸   ENST00000635259
RefSeq Acc Id: ENSP00000362300   ⟸   ENST00000373204
RefSeq Acc Id: ENSP00000362302   ⟸   ENST00000373206
RefSeq Acc Id: ENSP00000514640   ⟸   ENST00000699842
RefSeq Acc Id: ENSP00000514639   ⟸   ENST00000699841
RefSeq Acc Id: ENSP00000514642   ⟸   ENST00000699844
RefSeq Acc Id: ENSP00000514641   ⟸   ENST00000699843
RefSeq Acc Id: XP_054191944   ⟸   XM_054335969
- Peptide Label: isoform X1
- UniProtKB: B2RAD8 (UniProtKB/TrEMBL)
Protein Domains
PAZ   Piwi   Protein argonaute N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UL18-F1-model_v2 AlphaFold Q9UL18 1-857 view protein structure

Promoters
RGD ID:6854956
Promoter ID:EPDNEW_H643
Type:initiation region
Name:AGO1_2
Description:argonaute 1, RISC catalytic component
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H644  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38135,869,807 - 35,869,867EPDNEW
RGD ID:6854958
Promoter ID:EPDNEW_H644
Type:initiation region
Name:AGO1_1
Description:argonaute 1, RISC catalytic component
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H643  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38135,883,215 - 35,883,275EPDNEW
RGD ID:6785105
Promoter ID:HG_KWN:1987
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000019337
Position:
Human AssemblyChrPosition (strand)Source
Build 36136,121,134 - 36,121,634 (+)MPROMDB
RGD ID:6785108
Promoter ID:HG_KWN:1988
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC009VUY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36136,132,254 - 36,132,754 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3262 AgrOrtholog
COSMIC AGO1 COSMIC
Ensembl Genes ENSG00000092847 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000373204 ENTREZGENE
  ENST00000373204.6 UniProtKB/Swiss-Prot
  ENST00000373206 ENTREZGENE
  ENST00000373206.5 UniProtKB/TrEMBL
  ENST00000635259.1 UniProtKB/TrEMBL
  ENST00000674426 ENTREZGENE
  ENST00000674426.1 UniProtKB/TrEMBL
  ENST00000699841.1 UniProtKB/TrEMBL
  ENST00000699842.1 UniProtKB/TrEMBL
  ENST00000699843.1 UniProtKB/TrEMBL
  ENST00000699844.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.420.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.2300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  paz domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000092847 GTEx
HGNC ID HGNC:3262 ENTREZGENE
Human Proteome Map AGO1 Human Proteome Map
InterPro ArgoL1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ArgoL2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Argonaute_Mid_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Argonaute_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAZ_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAZ_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Piwi UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Piwi_ago-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNaseH-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNaseH_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:26523 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 26523 ENTREZGENE
OMIM 606228 OMIM
PANTHER EUKARYOTIC TRANSLATION INITIATION FACTOR 2C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN ARGONAUTE-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ArgoL1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ArgoL2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ArgoMid UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ArgoN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Piwi UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27693 PharmGKB
PROSITE PAZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PIWI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DUF1785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Piwi UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF101690 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF53098 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0U1RQZ8_HUMAN UniProtKB/TrEMBL
  A0A6I8PTZ8 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TNY0_HUMAN UniProtKB/TrEMBL
  A0A8V8TPF2_HUMAN UniProtKB/TrEMBL
  A0A8V8TQA7_HUMAN UniProtKB/TrEMBL
  A0A8V8TQN5_HUMAN UniProtKB/TrEMBL
  AGO1_HUMAN UniProtKB/Swiss-Prot
  B2RAD8 ENTREZGENE, UniProtKB/TrEMBL
  B3KME0 ENTREZGENE, UniProtKB/TrEMBL
  Q5TA57 ENTREZGENE
  Q5TA58 ENTREZGENE, UniProtKB/TrEMBL
  Q6P4S0 ENTREZGENE
  Q9UL18 ENTREZGENE
UniProt Secondary Q5TA57 UniProtKB/Swiss-Prot
  Q6P4S0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-02-19 AGO1  argonaute RISC component 1  AGO1  argonaute RISC catalytic component 1  Symbol and/or name change 5135510 APPROVED
2018-11-29 AGO1  argonaute RISC catalytic component 1  AGO1  argonaute 1, RISC catalytic component  Symbol and/or name change 5135510 APPROVED
2015-12-01 AGO1  argonaute 1, RISC catalytic component  AGO1  argonaute RISC catalytic component 1  Symbol and/or name change 5135510 APPROVED
2013-02-20 AGO1  argonaute RISC catalytic component 1  EIF2C1  eukaryotic translation initiation factor 2C, 1  Symbol and/or name change 5135510 APPROVED