Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23405
Gene name Gene Name - the full gene name approved by the HGNC.
Dicer 1, ribonuclease III
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DICER1
Synonyms (NCBI Gene) Gene synonyms aliases
DCR1, Dicer, Dicer1e, GLOW, HERNA, K12H4.8-LIKE, MNG1, RMSE2, aviD
Disease Acronyms (UniProt) Disease acronyms from UniProt database
GLOW, MNG1, RMSE2
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q32.13
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT004346 hsa-let-7a-5p Luciferase reporter assay, Western blot, Northern blot 18700235
MIRT004346 hsa-let-7a-5p Luciferase reporter assay, Western blot, Northern blot 18700235
MIRT004347 hsa-let-7d-5p Luciferase reporter assay, Western blot, Northern blot 18700235
MIRT004347 hsa-let-7d-5p Luciferase reporter assay, Western blot, Northern blot 18700235
MIRT004348 hsa-let-7c-5p Western blot, Northern blot 18700235
Transcription factors
Transcription factor Regulation Reference
GATA1 Activation 23426981
SOX4 Unknown 22098624
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0003677 Function DNA binding IEA
GO:0003723 Function RNA binding IBA 21873635
GO:0003725 Function Double-stranded RNA binding IDA 12411504
GO:0003725 Function Double-stranded RNA binding IMP 19701182
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606241 17098 ENSG00000100697
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Carcinoma Carcinoma, Basal Cell rs121912654, rs555607708, rs786202962, rs1564055259
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Euthyroid goiter Euthyroid Goiter rs1595314576, rs1595447577, rs1595374375, rs1595380836, rs387906934, rs754818927, rs1595363945 21205968, 28323992
Global developmental delay, lung cysts, overgrowth, and wilms tumor GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR, Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome rs875989779, rs886037704, rs886037684, rs754081635, rs886037672, rs1595314951, rs1595331224, rs886037691, rs201947254, rs1891064547, rs886037700 24676357
Unknown
Disease term Disease name Evidence References Source
Endometriosis Endometriosis 21063030 ClinVar
Pleuropulmonary Blastoma Tumor Susceptibility Syndrome DICER1 syndrome GenCC
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Associations from Text Mining
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