Gene Gene information from NCBI Gene database.
Entrez ID 23405
Gene name Dicer 1, ribonuclease III
Gene symbol DICER1
Synonyms (NCBI Gene)
DCR1DicerDicer1eGLOWHERNAK12H4.8-LIKEMNG1RMSE2aviD
Chromosome 14
Chromosome location 14q32.13
Summary This gene encodes a protein possessing an RNA helicase motif containing a DEXH box in its amino terminus and an RNA motif in the carboxy terminus. The encoded protein functions as a ribonuclease and is required by the RNA interference and small temporal R
SNPs SNP information provided by dbSNP.
249
SNP ID Visualize variation Clinical significance Consequence
rs34678453 G>-,GG Pathogenic Coding sequence variant, frameshift variant
rs117358479 T>C Conflicting-interpretations-of-pathogenicity, likely-benign Missense variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant
rs137852976 A>C Pathogenic Missense variant, coding sequence variant
rs137852977 C>A,G Pathogenic, uncertain-significance Stop gained, coding sequence variant, missense variant
rs137852978 G>A Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1749
miRTarBase ID miRNA Experiments Reference
MIRT004346 hsa-let-7a-5p Luciferase reporter assayWestern blotNorthern blot 18700235
MIRT004346 hsa-let-7a-5p Luciferase reporter assayWestern blotNorthern blot 18700235
MIRT004347 hsa-let-7d-5p Luciferase reporter assayWestern blotNorthern blot 18700235
MIRT004347 hsa-let-7d-5p Luciferase reporter assayWestern blotNorthern blot 18700235
MIRT004348 hsa-let-7c-5p Western blotNorthern blot 18700235
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
GATA1 Activation 23426981
SOX4 Unknown 22098624
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
72
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000166 Function Nucleotide binding IEA
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding IBA
GO:0003723 Function RNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606241 17098 ENSG00000100697
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UPY3
Protein name Endoribonuclease Dicer (EC 3.1.26.3) (Helicase with RNase motif) (Helicase MOI)
Protein function Double-stranded RNA (dsRNA) endoribonuclease playing a central role in short dsRNA-mediated post-transcriptional gene silencing. Cleaves naturally occurring long dsRNAs and short hairpin pre-microRNAs (miRNA) into fragments of twenty-one to twen
PDB 2EB1 , 4NGB , 4NGC , 4NGD , 4NGF , 4NGG , 4NH3 , 4NH5 , 4NH6 , 4NHA , 4WYQ , 5ZAK , 5ZAL , 5ZAM , 7XW2 , 7XW3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04851 ResIII 29 210 Type III restriction enzyme, res subunit Family
PF00271 Helicase_C 435 556 Helicase conserved C-terminal domain Family
PF03368 Dicer_dimer 630 719 Domain
PF02170 PAZ 894 1064 PAZ domain Domain
PF00636 Ribonuclease_3 1313 1575 Ribonuclease III domain Family
PF00636 Ribonuclease_3 1702 1824 Ribonuclease III domain Family
Sequence
MKSPALQPLSMAGLQLMTPASSPMGPFFGLPWQQEAIHDNIYTPRKYQVELLEAALDHNT
IVCLNTGSGKTFIAVLLTKELSYQIRGDFSRNGKRTVFLVNSANQVAQQVSAVRTHSDLK
VGEYSNLEVNASWTKERWNQEFTKHQVLIMTCYVALNVLKNGYLSLSDINLLVFDECHLA
ILDHPYREIMKLCENCPSCPRILGLTASIL
NGKCDPEELEEKIQKLEKILKSNAETATDL
VVLDRYTSQPCEIVVDCGPFTDRSGLYERLLMELEEALNFINDCNISVHSKERDSTLISK
QILSDCRAVLVVLGPWCADKVAGMMVRELQKYIKHEQEELHRKFLLFTDTFLRKIHALCE
EHFSPASLDLKFVTPKVIKLLEILRKYKPYERQQFESVEWYNNRNQDNYVSWSDSEDDDE
DEEIEEKEKPETNFPSPFTNILCGIIFVERRYTAVVLNRLIKEAGKQDPELAYISSNFIT
GHGIGKNQPRNKQMEAEFRKQEEVLRKFRAHETNLLIATSIVEEGVDIPKCNLVVRFDLP
TEYRSYVQSKGRARAP
ISNYIMLADTDKIKSFEEDLKTYKAIEKILRNKCSKSVDTGETD
IDPVMDDDDVFPPYVLRPDDGGPRVTINTAIGHINRYCARLPSDPFTHLAPKCRTRELPD
GTFYSTLYLPINSPLRASIVGPPMSCVRLAERVVALICCEKLHKIGELDDHLMPVGKET
V
KYEEELDLHDEEETSVPGRPGSTKRRQCYPKAIPECLRDSYPRPDQPCYLYVIGMVLTTP
LPDELNFRRRKLYPPEDTTRCFGILTAKPIPQIPHFPVYTRSGEVTISIELKKSGFMLSL
QMLELITRLHQYIFSHILRLEKPALEFKPTDADSAYCVLPLNVVNDSSTLDIDFKFMEDI
EKSEARIGIPSTKYTKETPFVFKLEDYQDAVIIPRYRNFDQPHRFYVADVYTDLTPLSKF
PSPEYETFAEYYKTKYNLDLTNLNQPLLDVDHTSSRLNLLTPRHLNQKGKALPLSSAEKR
KAKWESLQNKQILVPELCAIHPIPASLWRKAVCLPSILYRLHCL
LTAEELRAQTASDAGV
GVRSLPADFRYPNLDFGWKKSIDSKSFISISNSSSAENDNYCKHSTIVPENAAHQGANRT
SSLENHDQMSVNCRTLLSESPGKLHVEVSADLTAINGLSYNQNLANGSYDLANRDFCQGN
QLNYYKQEIPVQPTTSYSIQNLYSYENQPQPSDECTLLSNKYLDGNANKSTSDGSPVMAV
MPGTTDTIQVLKGRMDSEQSPSIGYSSRTLGPNPGLILQALTLSNASDGFNLERLEMLGD
SFLKHAITTYLFCTYPDAHEGRLSYMRSKKVSNCNLYRLGKKKGLPSRMVVSIFDPPVNW
LPPGYVVNQDKSNTDKWEKDEMTKDCMLANGKLDEDYEEEDEEEESLMWRAPKEEADYED
DFLEYDQEHIRFIDNMLMGSGAFVKKISLSPFSTTDSAYEWKMPKKSSLGSMPFSSDFED
FDYSSWDAMCYLDPSKAVEEDDFVVGFWNPSEENCGVDTGKQSISYDLHTEQCIADKSIA
DCVEALLGCYLTSCG
ERAAQLFLCSLGLKVLPVIKRTDREKALCPTRENFNSQQKNLSVS
CAAASVASSRSSVLKDSEYGCLKIPPRCMFDHPDADKTLNHLISGFENFEKKINYRFKNK
AYLLQAFTHASYHYNTITDCYQRLEFLGDAILDYLITKHLYEDPRQHSPGVLTDLRSALV
NNTIFASLAVKYDYHKYFKAVSPELFHVIDDFVQFQLEKNEMQGMDSELRRSEEDEEKEE
DIEVPKAMGDIFESLAGAIYMDSG
MSLETVWQVYYPMMRPLIEKFSANVPRSPVRELLEM
EPETAKFSPAERTYDGKVRVTVEVVGKGKFKGVGRSYRIAKSAAARRALRSLKANQPQVP
NS
Sequence length 1922
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  MicroRNAs in cancer   MicroRNA (miRNA) biogenesis
Small interfering RNA (siRNA) biogenesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
10067
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Benign cystic nephroma Pathogenic rs775912475 RCV004698431
DICER1-related disorder Likely pathogenic; Pathogenic rs2543368785, rs2542840500, rs1060503625 RCV004798000
RCV003416949
RCV003389645
DICER1-related tumor predisposition Likely pathogenic; Pathogenic rs1131691227, rs2139994024, rs2140001131, rs2140066644, rs1595397289, rs2140138974, rs2140261649, rs2139837979, rs2139842363, rs2139843944, rs1170730150, rs2139849146, rs2139852861, rs875989783, rs2139962772
View all (489 more)
RCV001377179
RCV001379727
RCV001378449
RCV001378054
RCV001376819
RCV001379735
RCV001377428
RCV001385768
RCV001380484
RCV001390497
RCV001388191
RCV001389514
RCV001390722
RCV001386587
RCV001389215
RCV001382577
RCV001387633
RCV001386411
RCV001380383
RCV001387599
RCV001387034
RCV001386325
RCV001543117
RCV001582421
RCV001582422
RCV001582423
RCV001789832
RCV001923853
RCV001867488
RCV001867518
RCV001920493
RCV001970257
RCV001923002
RCV001924168
RCV001941807
RCV001888842
RCV001961317
RCV001933300
RCV001960383
RCV001902430
RCV001972622
RCV001898217
RCV001941042
RCV002003861
RCV001896219
RCV001996626
RCV002004692
RCV001867835
RCV001954912
RCV002008048
RCV002037841
RCV002000224
RCV002007166
RCV002035274
RCV002037720
RCV001870766
RCV001945933
RCV001873017
RCV001939500
RCV002011356
RCV001929276
RCV001941581
RCV001938908
RCV001946950
RCV001946828
RCV001878600
RCV001958601
RCV001956402
RCV001945404
RCV001925155
RCV001888137
RCV001906601
RCV002008881
RCV001918470
RCV001903621
RCV002044936
RCV001952231
RCV001996763
RCV001890533
RCV003151392
RCV003151399
RCV003588804
RCV003588811
RCV003588810
RCV003588814
RCV003102343
RCV005096731
RCV003750920
RCV005097977
RCV003750930
RCV000240912
RCV000240918
RCV000240862
RCV000240896
RCV002791577
RCV002824439
RCV002802044
RCV002810258
RCV002833258
RCV002796124
RCV002842292
RCV002856216
RCV002843608
RCV002856614
RCV002846681
RCV002851350
RCV002812150
RCV002857065
RCV002889146
RCV002857237
RCV002857320
RCV002889403
RCV002871302
RCV002858393
RCV002899235
RCV002900068
RCV002907976
RCV002908557
RCV002885827
RCV002903839
RCV002881796
RCV002872368
RCV002918074
RCV002910239
RCV002942133
RCV002988610
RCV003012479
RCV003022956
RCV003016762
RCV003009804
RCV003029650
RCV003032481
RCV003022386
RCV003033791
RCV003054318
RCV003036067
RCV003063747
RCV003036456
RCV000206588
RCV000205672
RCV001200969
RCV000240939
RCV001201136
RCV000240868
RCV001201079
RCV001201110
RCV000229765
RCV000227857
RCV000226155
RCV000240872
RCV000240936
RCV000240869
RCV000240933
RCV000240897
RCV000240960
RCV000240919
RCV000240956
RCV000240917
RCV000240875
RCV000240874
RCV000240950
RCV000240909
RCV000240870
RCV000240947
RCV000240907
RCV000240930
RCV000240895
RCV000240865
RCV000240929
RCV000240892
RCV000240955
RCV000240916
RCV000240890
RCV000240953
RCV000240911
RCV000240887
RCV000240949
RCV000240923
RCV000240884
RCV000240946
RCV000240906
RCV000240881
RCV000240943
RCV000240905
RCV000240864
RCV000240927
RCV000240900
RCV000240925
RCV000240889
RCV000240963
RCV000240935
RCV000240883
RCV000240958
RCV000240920
RCV000240942
RCV000240903
RCV000240879
RCV000240940
RCV000240902
RCV000240861
RCV000240926
RCV000240910
RCV000240934
RCV000240898
RCV000240961
RCV000240932
RCV000240959
RCV000240880
RCV000240957
RCV000240914
RCV000240876
RCV000240937
RCV000240904
RCV000240877
RCV000240901
RCV000240863
RCV000240938
RCV000240962
RCV000240899
RCV003750955
RCV003482919
RCV005104358
RCV003589724
RCV003589786
RCV003589833
RCV003589690
RCV003589865
RCV003589973
RCV003590680
RCV003589900
RCV003590659
RCV003589841
RCV003589940
RCV003590492
RCV003588318
RCV003589291
RCV003588460
RCV003589045
RCV003590232
RCV003590237
RCV003590279
RCV003589377
RCV003589381
RCV003590000
RCV003589443
RCV003590147
RCV003590246
RCV003590408
RCV003590383
RCV003590386
RCV003751092
RCV003751171
RCV003751840
RCV003751953
RCV003751886
RCV003752061
RCV003752179
RCV003752084
RCV003752102
RCV003752130
RCV003752006
RCV003752119
RCV003752167
RCV003752073
RCV003752089
RCV003752138
RCV003752196
RCV003752219
RCV003752251
RCV003752476
RCV003752561
RCV003752518
RCV003752485
RCV003857496
RCV003870392
RCV003985150
RCV003985158
RCV005100658
RCV001201154
RCV001201069
RCV001201008
RCV001201061
RCV000474722
RCV000466596
RCV000464540
RCV000469249
RCV000476393
RCV000465236
RCV000459736
RCV000459141
RCV000474798
RCV000464109
RCV000468408
RCV000468167
RCV000457767
RCV000654427
RCV002305493
RCV001215942
RCV001201146
RCV001201142
RCV001201133
RCV000811512
RCV000824006
RCV005091038
RCV001201018
RCV001200964
RCV002527071
RCV001201123
RCV001201120
RCV000696105
RCV001201001
RCV003750796
RCV002527072
RCV001379474
RCV001200945
RCV001384154
RCV001201049
RCV001201042
RCV000539434
RCV000541292
RCV000555693
RCV000543044
RCV000542373
RCV000529758
RCV000550323
RCV000555663
RCV000528753
RCV000536462
RCV000526362
RCV000524590
RCV000534037
RCV000558690
RCV001200960
RCV000654463
RCV000654412
RCV000654466
RCV000654428
RCV000654373
RCV000654362
RCV000654467
RCV000654416
RCV000654454
RCV000691984
RCV000699486
RCV000696879
RCV000703673
RCV000695057
RCV000696796
RCV000706258
RCV000697367
RCV000704465
RCV000707071
RCV000698895
RCV000687054
RCV000818689
RCV000807565
RCV000821593
RCV000811982
RCV000821531
RCV000797094
RCV000815040
RCV000805001
RCV000816379
RCV000813412
RCV000815560
RCV000824399
RCV000817640
RCV000800145
RCV002538363
RCV001319888
RCV001201032
RCV001200976
RCV001201086
RCV001293956
RCV001201017
RCV001201015
RCV001201064
RCV001201000
RCV002536180
RCV001201060
RCV001201059
RCV001201052
RCV002538362
RCV003750826
RCV001869291
RCV005601632
RCV003482909
RCV001201022
RCV001201011
RCV002550867
RCV001200965
RCV001201111
RCV003588713
RCV003127586
RCV001068920
RCV001067736
RCV001043561
RCV001059054
RCV001069084
RCV001057179
RCV001039224
RCV001066011
RCV001048109
RCV001064860
RCV001064464
RCV001051642
RCV001071184
RCV001071616
RCV001053811
RCV001063977
RCV001037368
RCV001043757
RCV001070681
RCV001195291
RCV001201153
RCV001201090
RCV001201151
RCV001201150
RCV001201104
RCV001201103
RCV001201097
RCV001201096
RCV001201095
RCV001201093
RCV001201092
RCV001201091
RCV001201089
RCV001201038
RCV001201037
RCV001201035
RCV001201033
RCV001201031
RCV001201030
RCV001200974
RCV001201028
RCV001201027
RCV001201026
RCV001200975
RCV001200978
RCV001200977
RCV001200973
RCV001200972
RCV001200971
RCV001200970
RCV001201149
RCV001201148
RCV001201145
RCV001201138
RCV001201137
RCV001201134
RCV001201087
RCV001201085
RCV001201025
RCV001201024
RCV001201023
RCV001201020
RCV001201019
RCV001201016
RCV001201014
RCV001201012
RCV001200962
RCV001200963
RCV001200961
RCV001200959
RCV001200957
RCV001200956
RCV001200955
RCV001200953
RCV001200954
RCV001201131
RCV001201129
RCV001201128
RCV001201125
RCV001201124
RCV001201122
RCV001201121
RCV001201116
RCV001201117
RCV001201077
RCV001201076
RCV001201075
RCV001201074
RCV001201073
RCV001201071
RCV001201070
RCV001201068
RCV001201067
RCV001201062
RCV001201009
RCV001201006
RCV001201005
RCV001201003
RCV001201002
RCV001200999
RCV001200998
RCV001200995
RCV001200951
RCV001200944
RCV001201112
RCV001201107
RCV001201105
RCV001201057
RCV001201053
RCV001201051
RCV001201050
RCV001201048
RCV002560281
RCV001201045
RCV001200994
RCV001200993
RCV001200992
RCV001200991
RCV001200989
RCV001200988
RCV001200987
RCV001200984
RCV001200983
RCV001200943
RCV001200942
RCV001201040
RCV001201078
RCV001201004
RCV005416122
RCV001200996
RCV001200950
RCV001200947
RCV001201115
RCV001200990
RCV001200986
RCV001214905
RCV001224324
RCV001225057
RCV001212551
RCV001203402
RCV001204613
RCV001209934
RCV001215977
RCV001232590
RCV001230140
RCV001237242
RCV001243782
RCV001243906
RCV001245203
RCV001247486
RCV001231163
RCV001252993
Embryonal rhabdomyosarcoma Pathogenic rs886037667, rs1595314951, rs1595331264, rs775912475, rs1890101390 RCV006253929
RCV006254164
RCV006254170
RCV006254214
RCV006254205
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs79285101, rs139536688 RCV005916493
RCV005899505
Anophthalmia-microphthalmia syndrome Conflicting classifications of pathogenicity rs869025262 RCV000207391
Breast neoplasm Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance rs117358479, rs145551486, rs1893183218 RCV001262126
RCV001262127
RCV001262124
Cancer or benign tumor Conflicting classifications of pathogenicity rs375239471 RCV005625473
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Coronary Syndrome Associate 27519051
Adenocarcinoma Associate 17071602, 28089917, 30672147
Adenocarcinoma Bronchiolo Alveolar Associate 33846547
Adenocarcinoma Follicular Associate 32163919, 32897650, 34254496, 34580763
Adenocarcinoma Mucinous Associate 34552563
Adenocarcinoma of Lung Associate 26886166, 33208384
Adenoma Associate 27494611, 34580763
Adenoma Pleomorphic Associate 31537896
Adenomatous Polyposis Coli Associate 39271738
Adenosarcoma Associate 30266945, 31900434, 33838572