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 RNA (stRNA) pathways to produce the active small RNA component that represses gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]
Function:
Required for formation of the RNA induced silencing complex (RISC). Component of the RISC loading complex (RLC), also known as the micro-RNA (miRNA) loading complex (miRLC), which is composed of DICER1, EIF2C2/AGO2 and TARBP2. Within the RLC/miRLC, DICER1 and TARBP2 are required to process precursor miRNAs (pre-miRNAs) to mature miRNAs and then load them onto EIF2C2/AGO2. EIF2C2/AGO2 bound to the mature miRNA constitutes the minimal RISC and may subsequently dissociate from DICER1 and TARBP2. Also cleaves double-stranded RNA to produce short interfering RNAs (siRNAs) which target the selective destruction of complementary RNAs.
Subunit:
Component of the RISC loading complex (RLC), or micro-RNA (miRNA) loading complex (miRLC), which is composed of DICER1, EIF2C2/AGO2 and TARBP2. Note that the trimeric RLC/miRLC is also referred to as RISC. Interacts with DHX9, EIF2C1, PIWIL1 and PRKRA. Associates with the 60S ribosome.
Subcellular Location:
Cytoplasm.
DISEASE:
Defects in DICER1 are a cause of pleuropulmonary blastoma (PPB) [MIM:60240]. PPB is a rare pediatric tumor of the lung that arises during fetal lung development and is often part of an inherited cancer syndrome. PPBs contain both epithelial and mesenchymal cells. Early in tumorigenesis, cysts form in lung airspaces, and these cysts are lined with benign-appearing epithelium. Mesenchymal cells susceptible to malignant transformation reside within the cyst walls and form a dense 'cambium' layer beneath the epithelial lining. In a subset of patients, overgrowth of the mesenchymal cells produces a sarcoma, a transition that is associated with a poorer prognosis.
Similarity:
Belongs to the helicase family. Dicer subfamily.
Contains 1 Dicer dsRNA-binding fold domain.
Contains 1 DRBM (double-stranded RNA-binding) domain.
Contains 1 helicase ATP-binding domain.
Contains 1 helicase SLCterminal domain.
Contains 1 PAZ domain.
Contains 2 RNase III domains
SWISS:
Q9UPY3
Gene ID:
23405
Database links:
Entrez Gene: 337871 Cow
Entrez Gene: 23405 Human
Entrez Gene: 192119 Mouse
Entrez Gene: 299284 Rat
Omim: 606241 Human
SwissProt: Q6TUI4 Cow
SwissProt: Q9UPY3 Human
SwissProt: Q8R418 Mouse
Unigene: 87889 Human
Unigene: 21135 Mouse
| Picture |
Hela cell; 4% Paraformaldehyde-fixed; Triton X-100 at room temperature for 20 min; Blocking buffer (normal goat serum, SLC0005) at 37°C for 20 min; Antibody incubation with (DICER1) polyclonal Antibody, Unconjugated (SL6697R) 1:100, 90 minutes at 37°C; followed by a conjugated Goat Anti-Rabbit IgG antibody at 37°C for 90 minutes, DAPI (blue, C02-04002) was used to stain the cell nuclei.
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