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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]
DICER1 (Dicer 1, Ribonuclease III) is a Protein Coding gene. Diseases associated with DICER1 include Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor and Pleuropulmonary Blastoma. Among its related pathways are DDX1 as a regulatory component of the Drosha microprocessor and Mitotic Prophase. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and hydrolase activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0003723 | RNA binding | IBA | 21873635 |
GO:0003725 | double-stranded RNA binding | IMP | 19701182 |
GO:0004386 | helicase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005793 | endoplasmic reticulum-Golgi intermediate compartment | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0016442 | NOT RISC complex | IBA,IDA | 16357216 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Mitotic Prophase | ||
2 | HIV Transcription Elongation |
.01
|
|
3 | Translational Control | ||
4 | MicroRNAs in cancer | ||
5 | RNAi Pathway |
RNAi Pathway
-
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | ISS | -- |
GO:0006309 | apoptotic DNA fragmentation | IBA | 21873635 |
GO:0006396 | RNA processing | IEA | -- |
GO:0010586 | miRNA metabolic process | TAS | -- |
GO:0010626 | negative regulation of Schwann cell proliferation | ISS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Cyclophosphamide | Approved, Investigational | Pharma | Nitrogen mustard alkylating agent and prodrug. | 3670 | ||
Dactinomycin | Approved, Investigational | Pharma | 53 | |||
Doxorubicin | Approved, Investigational | Pharma | Topo II inhibitor,immunosuppresive antineoplastic antibiotic | 2029 | ||
Ifosfamide | Approved | Pharma | Cytostatic agent | 447 | ||
Vincristine | Approved, Investigational | Pharma | Microtubule disrupter,antitumor agent | 1073 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17a | · | 17b | ^ | 18 | ^ | 19a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: |
ExUns: | 19b | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23a | · | 23b | ^ | 24 | ^ | 25 | ^ | 26a | · | 26b | · | 26c | ^ | 27 | ^ | 28a | · | 28b | ^ | 29 | ^ | 30a | · | 30b | ^ | 31a | · | 31b | ^ | 32 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||||||||||||||
SP10: | |||||||||||||||||||||||||||||||||||||||
SP11: | |||||||||||||||||||||||||||||||||||||||
SP12: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DICER1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DICER1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | DICER1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | DICER1 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DICER1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Dicer1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Dicer1 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | DICER1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | DICER1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dicer1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | dicer1 30 31 |
|
OneToOne | |
wufc39d11 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Dcr-1 30 31 32 |
|
OneToOne | |
Dcr-2 32 |
|
|
|||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002836 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | dcr-1 30 31 32 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | dcr1 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU08270 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.14057 30 |
|
SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
254343 | Pathogenic: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome | 95,093,531(-) | AGCTACACTGGGCTTT | SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT | |
30562 | Pathogenic: Pleuropulmonary blastoma; Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors | 95,091,253(-) | G/T | NONSENSE,INTRON_VARIANT | |
30563 | Pathogenic: Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors | 95,126,605(-) | CTTTCT/C | FRAMESHIFT_VARIANT | |
30564 | Pathogenic: Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors | 95,106,224(-) | C/A | SPLICE_ACCEPTOR_VARIANT | |
30565 | Pathogenic: Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors | 95,108,073(-) | G/C | NONSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3635396 | CNV | gain | 21293372 |
nsv1036738 | CNV | gain | 25217958 |
nsv471967 | CNV | novel sequence insertion | 20440878 |
nsv84515 | CNV | deletion | 16902084 |
Disorder | Aliases | PubMed IDs |
---|---|---|
global developmental delay, lung cysts, overgrowth, and wilms tumor |
|
|
pleuropulmonary blastoma |
|
|
goiter, multinodular 1, with or without sertoli-leydig cell tumors |
|
|
rhabdomyosarcoma, embryonal, 2 |
|
|
dicer1-related pleuropulmonary blastoma cancer predisposition syndrome |
|
|