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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
59
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Benign cystic nephroma Pathogenic rs775912475 RCV004698431
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DICER1-related disorder Likely pathogenic; Pathogenic rs2543368785, rs2542840500, rs1060503625 RCV004798000
RCV003416949
RCV003389645
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (541 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Embryonal rhabdomyosarcoma Pathogenic rs886037667, rs1595314951, rs1595331264, rs775912475, rs1890101390 RCV006253929
RCV006254164
RCV006254170
RCV006254214
RCV006254205
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anophthalmia-microphthalmia syndrome Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast neoplasm Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cancer or benign tumor Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 31090156
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 25990244
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 17071602, 17332367
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 23519840
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 26886166
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of rectum Adenocarcinoma Of Rectum BEFREE 30672147
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 26087193
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 23671264, 26087193 Associate
★☆☆☆☆
Found in Text Mining only
Adrenocortical carcinoma Adrenocortical carcinoma BEFREE 26087193
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 25195038
★☆☆☆☆
Found in Text Mining only