DICER1
entrez
23405
canonical
uniprot
Q9UPY3
canonical
ensembl
ENSG00000100697
resolver
ensp
ENSP00000343745
resolver
ensp
ENSP00000376783
resolver
ensp
ENSP00000435681
resolver
ensp
ENSP00000437256
resolver
ensp
ENSP00000444719
resolver
ensp
ENSP00000452556
resolver
ensp
ENSP00000502591
resolver
ensp
ENSP00000502730
resolver
ensp
ENSP00000512841
resolver
ensp
ENSP00000530674
resolver
ensp
ENSP00000530675
resolver
ensp
ENSP00000530676
resolver
ensp
ENSP00000530677
resolver
ensp
ENSP00000777462
resolver
enst
ENST00000532939
resolver
enst
ENST00000696737
resolver
genesymbol
DICER1
resolver
genesymbol_syn
DICER
resolver
genesymbol_syn
HERNA
resolver
genesymbol_syn
KIAA0928
resolver
hgnc
HGNC:17098
resolver
uniprot
A7E2D3
resolver
uniprot
B3KRG4
resolver
uniprot
E0AD28
resolver
uniprot
H0YJZ6
resolver
uniprot
O95943
resolver
uniprot
Q9UQ02
resolver
uniprot_entry
DICER_HUMAN
resolver
uniprot_entry
H0YJZ6_HUMAN
resolver
uniprot_sec
A7E2D3
resolver
uniprot_sec
B3KRG4
resolver
uniprot_sec
E0AD28
resolver
uniprot_sec
O95943
resolver
uniprot_sec
Q9UQ02
resolver
amino_acid_sequence
MKSPALQPLSMAGLQLMTPASSPMGPFFGLPWQQEAIHDNIYTPRKYQVELLEAALDHNTIVCLNTGSGKTFIAVLLTKELSYQIRGDFSRNGKRTVFLVNSANQVAQQVSAVRTHSDLKVGEYSNLEVNASWTKERWNQEFTKHQVLIMTCYVALNVLKNGYLSLSDINLLVFDECHLAILDHPYREIMKLCENCPSCPRILGLTASILNGKCDPEELEEKIQKLEKILKSNAETATDLVVLDRYTSQPCEIVVDCGPFTDRSGLYERLLMELEEALNFINDCNISVHSKERDSTLISKQILSDCRAVLVVLGPWCADKVAGMMVRELQKYIKHEQEELHRKFLLFTDTFLRKIHALCEEHFSPASLDLKFVTPKVIKLLEILRKYKPYERQQFESVEWYNNRNQDNYVSWSDSEDDDEDEEIEEKEKPETNFPSPFTNILCGIIFVERRYTAVVLNRLIKEAGKQDPELAYISSNFITGHGIGKNQPRNKQMEAEFRKQEEVLRKFRAHETNLLIATSIVEEGVDIPKCNLVVRFDLPTEYRSYVQSKGRARAPISNYIMLADTDKIKSFEEDLKTYKAIEKILRNKCSKSVDTGETDIDPVMDDDDVFPPYVLRPDDGGPRVTINTAIGHINRYCARLPSDPFTHLAPKCRTRELPDGTFYSTLYLPINSPLRASIVGPPMSCVRLAERVVALICCEKLHKIGELDDHLMPVGKETVKYEEELDLHDEEETSVPGRPGSTKRRQCYPKAIPECLRDSYPRPDQPCYLYVIGMVLTTPLPDELNFRRRKLYPPEDTTRCFGILTAKPIPQIPHFPVYTRSGEVTISIELKKSGFMLSLQMLELITRLHQYIFSHILRLEKPALEFKPTDADSAYCVLPLNVVNDSSTLDIDFKFMEDIEKSEARIGIPSTKYTKETPFVFKLEDYQDAVIIPRYRNFDQPHRFYVADVYTDLTPLSKFPSPEYETFAEYYKTKYNLDLTNLNQPLLDVDHTSSRLNLLTPRHLNQKGKALPLSSAEKRKAKWESLQNKQILVPELCAIHPIPASLWRKAVCLPSILYRLHCLLTAEELRAQTASDAGVGVRSLPADFRYPNLDFGWKKSIDSKSFISISNSSSAENDNYCKHSTIVPENAAHQGANRTSSLENHDQMSVNCRTLLSESPGKLHVEVSADLTAINGLSYNQNLANGSYDLANRDFCQGNQLNYYKQEIPVQPTTSYSIQNLYSYENQPQPSDECTLLSNKYLDGNANKSTSDGSPVMAVMPGTTDTIQVLKGRMDSEQSPSIGYSSRTLGPNPGLILQALTLSNASDGFNLERLEMLGDSFLKHAITTYLFCTYPDAHEGRLSYMRSKKVSNCNLYRLGKKKGLPSRMVVSIFDPPVNWLPPGYVVNQDKSNTDKWEKDEMTKDCMLANGKLDEDYEEEDEEEESLMWRAPKEEADYEDDFLEYDQEHIRFIDNMLMGSGAFVKKISLSPFSTTDSAYEWKMPKKSSLGSMPFSSDFEDFDYSSWDAMCYLDPSKAVEEDDFVVGFWNPSEENCGVDTGKQSISYDLHTEQCIADKSIADCVEALLGCYLTSCGERAAQLFLCSLGLKVLPVIKRTDREKALCPTRENFNSQQKNLSVSCAAASVASSRSSVLKDSEYGCLKIPPRCMFDHPDADKTLNHLISGFENFEKKINYRFKNKAYLLQAFTHASYHYNTITDCYQRLEFLGDAILDYLITKHLYEDPRQHSPGVLTDLRSALVNNTIFASLAVKYDYHKYFKAVSPELFHVIDDFVQFQLEKNEMQGMDSELRRSEEDEEKEEDIEVPKAMGDIFESLAGAIYMDSGMSLETVWQVYYPMMRPLIEKFSANVPRSPVRELLEMEPETAKFSPAERTYDGKVRVTVEVVGKGKFKGVGRSYRIAKSAAARRALRSLKANQPQVPNS
uniprot
proteins
disease_involvement
DISEASE: Pleuropulmonary blastoma (PPB) [MIM:601200]: A rare pediatric intrathoracic neoplasm. The tumor arises from the lung, pleura, or both, and appears to be purely mesenchymal in phenotype. It lacks malignant epithelial elements, a feature that distinguishes it from the classic adult-type pulmonary blastoma. It arises during fetal lung development and is often part of an inherited cancer syndrome. The tumor 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 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. Some patients have multilocular cystic nephroma, a benign kidney tumor. {ECO:0000269|PubMed:19556464, ECO:0000269|PubMed:26925222}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Goiter multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1) [MIM:138800]: A common disorder characterized by nodular overgrowth of the thyroid gland. Some individuals may also develop Sertoli-Leydig cell tumors, usually of the ovary. {ECO:0000269|PubMed:21205968}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Rhabdomyosarcoma, embryonal, 2 (RMSE2) [MIM:180295]: A form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas. {ECO:0000269|PubMed:21882293}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Global developmental delay, lung cysts, overgrowth, and Wilms tumor (GLOW) [MIM:618272]: A disease characterized by the association of congenital nephromegaly, bilateral Wilms tumor, somatic overgrowth, developmental delay, macrocephaly, and bilateral lung cysts. {ECO:0000269|PubMed:24676357}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=DICER1 mutations have been found in uterine cervix embryonal rhabdomyosarcoma, primitive neuroectodermal tumor, Wilms tumor, pulmonary sequestration and juvenile intestinal polyp (PubMed:21882293). Somatic missense mutations affecting the RNase IIIb domain of DICER1 are common in non-epithelial ovarian tumors. These mutations do not abolish DICER1 function but alter it in specific cell types, a novel mechanism through which perturbation of microRNA processing may be oncogenic (PubMed:22187960). {ECO:0000269|PubMed:21882293, ECO:0000269|PubMed:22187960}.
uniprot
proteins
ec_number
3.1.26.3
uniprot
proteins
function
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 twenty-three nucleotides with 3' overhang of two nucleotides, producing respectively short interfering RNAs (siRNA) and mature microRNAs. SiRNAs and miRNAs serve as guide to direct the RNA-induced silencing complex (RISC) to complementary RNAs to degrade them or prevent their translation. Gene silencing mediated by siRNAs, also called RNA interference, controls the elimination of transcripts from mobile and repetitive DNA elements of the genome but also the degradation of exogenous RNA of viral origin for instance. The miRNA pathway on the other side is a mean to specifically regulate the expression of target genes. {ECO:0000269|PubMed:15242644, ECO:0000269|PubMed:15973356, ECO:0000269|PubMed:16142218, ECO:0000269|PubMed:16271387, ECO:0000269|PubMed:16289642, ECO:0000269|PubMed:16357216, ECO:0000269|PubMed:16424907, ECO:0000269|PubMed:17452327, ECO:0000269|PubMed:18178619}.
uniprot
proteins
mass_dalton
218682
uniprot
proteins
mutagenesis
MUTAGEN 960; /note="F->A: 2-fold decrease in activity."; MUTAGEN 971; /note="Y->A: 10-fold decrease in activity; when associated with Y-972."; MUTAGEN 972; /note="Y->A: 10-fold decrease in activity; when associated with Y-971."; MUTAGEN 1036; /note="E->A: 5-fold decrease in activity."; MUTAGEN 1313; /note="E->A: No effect on activity."; /evidence="ECO:0000269|PubMed:15242644"; MUTAGEN 1320; /note="D->A: Decreased activity. Loss of activity; when associated with D-1709."; /evidence="ECO:0000269|PubMed:15242644"; MUTAGEN 1340; /note="E->A: No effect on activity."; /evidence="ECO:0000269|PubMed:15242644"; MUTAGEN 1444; /note="E->A: Decreased activity. Loss of activity; when associated with E-1813."; /evidence="ECO:0000269|PubMed:15242644"; MUTAGEN 1702; /note="Q->A: No effect on activity."; /evidence="ECO:0000269|PubMed:15242644"; MUTAGEN 1709; /note="D->A: Decreased activity. Loss of activity; when associated with D-1320."; /evidence="ECO:0000269|PubMed:15242644"; MUTAGEN 1729; /note="P->E: No effect on activity."; /evidence="ECO:0000269|PubMed:15242644"; MUTAGEN 1813; /note="E->A: Decreased activity. Loss of activity; when associated with E-1444."; /evidence="ECO:0000269|PubMed:15242644
uniprot
proteins
protein_family
Dicer subfamily
uniprot
proteins
protein_family
Helicase family
uniprot
proteins
pubmed
10051563
uniprot
proteins
pubmed
10231032
uniprot
proteins
pubmed
10786632
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14749716
uniprot
proteins
pubmed
15242644
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15973356
uniprot
proteins
pubmed
16142218
uniprot
proteins
pubmed
16271387
uniprot
proteins
pubmed
16289642
uniprot
proteins
pubmed
16357216
uniprot
proteins
pubmed
16424907
uniprot
proteins
pubmed
17452327
uniprot
proteins
pubmed
17507929
uniprot
proteins
pubmed
17531811
uniprot
proteins
pubmed
17920623
uniprot
proteins
pubmed
18178619
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18690212
uniprot
proteins
pubmed
19022417
uniprot
proteins
pubmed
19219043
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19556464
uniprot
proteins
pubmed
20615407
uniprot
proteins
pubmed
21205968
uniprot
proteins
pubmed
21228243
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21882293
uniprot
proteins
pubmed
22187960
uniprot
proteins
pubmed
23063121
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24676357
uniprot
proteins
pubmed
26813765
uniprot
proteins
pubmed
26925222
uniprot
proteins
sequence_length
1922
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16424907}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:19022417}.
uniprot
proteins