Gene: Dicer1

Basic information

Tag Content
Uniprot ID Q8R418; Q8R419;
Entrez ID
Genbank protein ID BAC15765.1; AAM21495.1; AAL84638.1; AAL84637.1;
Genbank nucleotide ID
Ensembl protein ID
Ensembl nucleotide ID
Gene name Endoribonuclease Dicer
Gene symbol Dicer1
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage
Data sources Manually collected
Reference 23716939; 20144605; 21256960; 20457670; 22753148; 20102707;
Functional description 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 (By similarity).
Sequence
MKSPALQPLS MAGLQLMTPA SSPMGPFFGL PWQQEAIHDN IYTPRKYQVE LLEAALDHNT 60
IVCLNTGSGK TFIAVLLTKE LAHQIRGDLN PHAKRTVFLV NSANQVAQQV SAVRTHSDLK 120
VGEYSDLEVN ASWTKERWSQ EFTKHQVLIM TCYVALTVLK NGYLSLSDIN LLVFDECHLA 180
ILDHPYREIM KLCESCPSCP RILGLTASIL NGKCDPEELE EKIQKLERIL RSDAETATDL 240
VVLDRYTSQP CEIVVDCGPF TDRSGLYERL LMELEAALDF INDCNVAVHS KERDSTLISK 300
QILSDCRAVL VVLGPWCADK VAGMMVRELQ KYIKHEQEEL HRKFLLFTDT LLRKIHALCE 360
EYFSPASLDL KYVTPKVMKL LEILRKYKPY ERQQFESVEW YNNRNQDNYV SWSDSEDDDD 420
DEEIEEKEKP ETNFPSPFTN ILCGIIFVER RYTAVVLNRL IKEAGKQDPE LAYISSNFIT 480
GHGIGKNQPR SKQMEAEFRK QEEVLRKFRA HETNLLIATS VVEEGVDIPK CNLVVRFDLP 540
TEYRSYVQSK GRARAPISNY VMLADTDKIK SFEEDLKTYK AIEKILRNKC SKSADGAEAD 600
VHAGVDDEDA FPPYVLRPDD GGPRVTINTA IGHINRYCAR LPSDPFTHLA PKCRTRELPD 660
GTFYSTLYLP INSPLRASIV GPPMDSVRLA ERVVALICCE KLHKIGELDE HLMPVGKETV 720
KYEEELDLHD EEETSVPGRP GSTKRRQCYP KAIPECLRES YPKPDQPCYL YVIGMVLTTP 780
LPDELNFRRR KLYPPEDTTR CFGILTAKPI PQIPHFPVYT RSGEVTISIE LKKSGFTLSQ 840
QMLELITRLH QYIFSHILRL EKPALEFKPT GAESAYCVLP LNVVNDSGTL DIDFKFMEDI 900
EKSEARIGIP STKYSKETPF VFKLEDYQDA VIIPRYRNFD QPHRFYVADV YTDLTPLSKF 960
PSPEYETFAE YYKTKYNLDL TNLNQPLLDV DHTSSRLNLL TPRHLNQKGK ALPLSSAEKR 1020
KAKWESLQNK QILVPELCAI HPIPASLWRK AVCLPSILYR LHCLLTAEEL RAQTASDAGV 1080
GVRSLPVDFR YPNLDFGWKK SIDSKSFIST CNSSLAESDN YCKHSTTVVP EHAAHQGATR 1140
PSLENHDQMS VNCKRLPAES PAKLQSEVST DLTAINGLSY NKNLANGSYD LVNRDFCQGN 1200
QLNYFKQEIP VQPTTSYPIQ NLYNYENQPK PSNECPLLSN TYLDGNANTS TSDGSPAVST 1260
MPAMMNAVKA LKDRMDSEQS PSVGYSSRTL GPNPGLILQA LTLSNASDGF NLERLEMLGD 1320
SFLKHAITTY LFCTYPDAHE GRLSYMRSKK VSNCNLYRLG KKKGLPSRMV VSIFDPPVNW 1380
LPPGYVVNQD KSNSEKWEKD EMTKDCLLAN GKLGEACEEE EDLTWRAPKE EAEDEDDFLE 1440
YDQEHIQFID SMLMGSGAFV RKISLSPFSA SDSAYEWKMP KKASLGSMPF ASGLEDFDYS 1500
SWDAMCYLDP SKAVEEDDFV VGFWNPSEEN CGVDTGKQSI SYDLHTEQCI ADKSIADCVE 1560
ALLGCYLTSC GERAAQLFLC SLGLKVLPVI KRTSREKALD PAQENGSSQQ KSLSGSCAAP 1620
VGPRSSAGKD LEYGCLKIPP RCMFDHPDAE KTLNHLISGF ETFEKKINYR FKNKAYLLQA 1680
FTHASYHYNT ITDCYQRLEF LGDAILDYLI TKHLYEDPRQ HSPGVLTDLR SALVNNTIFA 1740
SLAVKYDYHK YFKAVSPELF HVIDDFVKFQ LEKNEMQGMD SELRRSEEDE EKEEDIEVPK 1800
AMGDIFESLA GAIYMDSGMS LEVVWQVYYP MMQPLIEKFS ANVPRSPVRE LLEMEPETAK 1860
FSPAERTYDG KVRVTVEVVG KGKFKGVGRS YRIAKSAAAR RALRSLKANQ PQVPNS 1916

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database


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Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologDICER1480426E2RIN4Canis lupus familiarisPredictionMore>>
1:1 orthologDICER1102175335A0A452ESG3Capra hircusPredictionMore>>
1:1 orthologDICER123405Q9UPY3Homo sapiensPublicationMore>>
1:1 orthologDicer1Q8R418CPOMus musculusPublicationMore>>
1:1 orthologDICER1453137H2R458Pan troglodytesPredictionMore>>
1:1 orthologDICER1A0A287A263Sus scrofaPredictionMore>>
1:1 orthologDicer1299284E9PU15Rattus norvegicusPredictionMore>>
1:1 orthologdicer1324724Q6TV19Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
DICER1rs1243572A>GGWAS28232668
DICER1rs1243573A>CGWAS28232668

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0003677 DNA bindingIEA
GO:0003723 RNA bindingIBA
GO:0003725 double-stranded RNA bindingISO
GO:0004386 helicase activityIEA
GO:0004521 endoribonuclease activityISO
GO:0004525 ribonuclease III activityISO
GO:0004525 ribonuclease III activityISA
GO:0004525 ribonuclease III activityIDA
GO:0004525 ribonuclease III activityIBA
GO:0004530 deoxyribonuclease I activityIBA
GO:0005515 protein bindingIPI
GO:0005524 ATP bindingIEA
GO:0019904 protein domain specific bindingISO
GO:0035197 siRNA bindingISO
GO:0035198 miRNA bindingIDA
GO:0046872 metal ion bindingIEA
GO:0070883 pre-miRNA bindingISO

GO:Biological Process

GO ID GO Term Evidence
GO:0000122 negative regulation of transcription by RNA polymerase IIIMP
GO:0001525 angiogenesisIMP
GO:0001834 trophectodermal cell proliferationIMP
GO:0001932 regulation of protein phosphorylationIMP
GO:0001942 hair follicle developmentIMP
GO:0006309 apoptotic DNA fragmentationIBA
GO:0006396 RNA processingIDA
GO:0006396 RNA processingIMP
GO:0007284 spermatogonial cell divisionIMP
GO:0008283 cell population proliferationIMP
GO:0008593 regulation of Notch signaling pathwayIC
GO:0009791 post-embryonic developmentIMP
GO:0010070 zygote asymmetric cell divisionIMP
GO:0010468 regulation of gene expressionIMP
GO:0010626 negative regulation of Schwann cell proliferationIMP
GO:0010628 positive regulation of gene expressionIMP
GO:0010629 negative regulation of gene expressionISO
GO:0010660 regulation of muscle cell apoptotic processIMP
GO:0014040 positive regulation of Schwann cell differentiationIMP
GO:0014835 myoblast differentiation involved in skeletal muscle regenerationIMP
GO:0016075 rRNA catabolic processIEA
GO:0016246 RNA interferenceIMP
GO:0019827 stem cell population maintenanceIMP
GO:0021522 spinal cord motor neuron differentiationIMP
GO:0021675 nerve developmentIMP
GO:0021889 olfactory bulb interneuron differentiationIMP
GO:0021987 cerebral cortex developmentIMP
GO:0030324 lung developmentIMP
GO:0030326 embryonic limb morphogenesisIMP
GO:0030422 production of siRNA involved in RNA interferenceISS
GO:0030422 production of siRNA involved in RNA interferenceISO
GO:0030422 production of siRNA involved in RNA interferenceIDA
GO:0030422 production of siRNA involved in RNA interferenceIBA
GO:0030423 targeting of mRNA for destruction involved in RNA interferenceISS
GO:0030423 targeting of mRNA for destruction involved in RNA interferenceISO
GO:0031054 pre-miRNA processingISS
GO:0031054 pre-miRNA processingISO
GO:0031054 pre-miRNA processingIDA
GO:0031054 pre-miRNA processingIBA
GO:0031069 hair follicle morphogenesisIMP
GO:0031641 regulation of myelinationIMP
GO:0031643 positive regulation of myelinationIMP
GO:0032290 peripheral nervous system myelin formationIMP
GO:0032720 negative regulation of tumor necrosis factor productionISO
GO:0033168 conversion of ds siRNA to ss siRNA involved in RNA interferenceISO
GO:0035087 siRNA loading onto RISC involved in RNA interferenceISO
GO:0035116 embryonic hindlimb morphogenesisIMP
GO:0035148 tube formationISO
GO:0035196 production of miRNAs involved in gene silencing by miRNAISO
GO:0035196 production of miRNAs involved in gene silencing by miRNAIMP
GO:0035264 multicellular organism growthIMP
GO:0035280 miRNA loading onto RISC involved in gene silencing by miRNAISO
GO:0036404 conversion of ds siRNA to ss siRNAISO
GO:0038061 NIK/NF-kappaB signalingISO
GO:0042487 regulation of odontogenesis of dentin-containing toothIMP
GO:0045069 regulation of viral genome replicationIMP
GO:0045589 regulation of regulatory T cell differentiationIMP
GO:0045595 regulation of cell differentiationIMP
GO:0045664 regulation of neuron differentiationIMP
GO:0045944 positive regulation of transcription by RNA polymerase IIIMP
GO:0048255 mRNA stabilizationIMP
GO:0048536 spleen developmentIMP
GO:0048565 digestive tract developmentIMP
GO:0048608 reproductive structure developmentIMP
GO:0048713 regulation of oligodendrocyte differentiationIMP
GO:0048730 epidermis morphogenesisIMP
GO:0048754 branching morphogenesis of an epithelial tubeIMP
GO:0048812 neuron projection morphogenesisIMP
GO:0048856 anatomical structure developmentIMP
GO:0050727 regulation of inflammatory responseIMP
GO:0050767 regulation of neurogenesisIMP
GO:0051216 cartilage developmentIMP
GO:0051225 spindle assemblyIMP
GO:0051252 regulation of RNA metabolic processIMP
GO:0051607 defense response to virusIMP
GO:0051726 regulation of cell cycleIMP
GO:0055013 cardiac muscle cell developmentIMP
GO:0060119 inner ear receptor cell developmentIMP
GO:0060253 negative regulation of glial cell proliferationIMP
GO:0060576 intestinal epithelial cell developmentIGI
GO:0061309 cardiac neural crest cell development involved in outflow tract morphogenesisIMP
GO:0061548 ganglion developmentIMP
GO:0070173 regulation of enamel mineralizationIMP
GO:0071335 hair follicle cell proliferationIMP
GO:0090501 RNA phosphodiester bond hydrolysisIBA
GO:0090502 RNA phosphodiester bond hydrolysis, endonucleolyticISO
GO:1990141 chromatin silencing at centromere outer repeat regionIMP
GO:2000628 regulation of miRNA metabolic processIMP
GO:2000630 positive regulation of miRNA metabolic processIMP
GO:2000736 regulation of stem cell differentiationIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusIBA
GO:0005737 cytoplasmIBA
GO:0005737 cytoplasmIDA
GO:0005793 endoplasmic reticulum-Golgi intermediate compartmentISO
GO:0016442 RISC complexIBA
GO:0016442 RISC complexIDA
GO:0030424 axonISO
GO:0030425 dendriteISO
GO:0030426 growth coneISO
GO:0034507 chromosome, centromeric outer repeat regionIEA
GO:0070062 extracellular exosomeISO
GO:0070578 RISC-loading complexISS
GO:0070578 RISC-loading complexISO

Reactome Pathway

Reactome ID Reactome Term Evidence

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0877 Alternative promoter usage
KW-0067 ATP-binding
KW-0963 Cytoplasm
KW-0255 Endonuclease
KW-0347 Helicase
KW-0378 Hydrolase
KW-0460 Magnesium
KW-0464 Manganese
KW-0479 Metal-binding
KW-0540 Nuclease
KW-0547 Nucleotide-binding
KW-0597 Phosphoprotein
KW-1185 Reference proteome
KW-0677 Repeat
KW-0694 RNA-binding
KW-0943 RNA-mediated gene silencing

Interpro

InterPro ID InterPro Term
IPR038248 Dicer_dimer_sf
IPR005034 Dicer_dimerisation_dom
IPR014720 dsRBD_dom
IPR006935 Helicase/UvrB_N
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR003100 PAZ_dom
IPR036085 PAZ_dom_sf
IPR011907 RNase_III
IPR000999 RNase_III_dom
IPR036389 RNase_III_sf

PROSITE

PROSITE ID PROSITE Term
PS51327 DICER_DSRBF
PS50137 DS_RBD
PS51192 HELICASE_ATP_BIND_1
PS51194 HELICASE_CTER
PS50821 PAZ
PS00517 RNASE_3_1
PS50142 RNASE_3_2

Pfam

Pfam ID Pfam Term
PF03368 Dicer_dimer
PF00271 Helicase_C
PF02170 PAZ
PF04851 ResIII
PF00636 Ribonuclease_3

Protein-miRNA interaction