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DICER1 (dicer 1, ribonuclease III)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23405
Gene nameGene Name - the full gene name approved by the HGNC.
Dicer 1, ribonuclease III
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
DICER1
SynonymsGene synonyms aliases
DCR1, Dicer, Dicer1e, GLOW, HERNA, K12H4.8-LIKE, MNG1, RMSE2, aviD
ChromosomeChromosome number
14
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q32.13
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
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
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004346 hsa-let-7a-5p Luciferase reporter assay, Western blot, Northern blot 18700235
MIRT004346 hsa-let-7a-5p Luciferase reporter assay, Western blot, Northern blot 18700235
MIRT004347 hsa-let-7d-5p Luciferase reporter assay, Western blot, Northern blot 18700235
MIRT004347 hsa-let-7d-5p Luciferase reporter assay, Western blot, Northern blot 18700235
MIRT004348 hsa-let-7c-5p Western blot, Northern blot 18700235
Transcription factors
Transcription factor Regulation Reference
GATA1 Activation 23426981
SOX4 Unknown 22098624
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0003677 Function DNA binding IEA
GO:0003723 Function RNA binding IBA 21873635
GO:0003725 Function Double-stranded RNA binding IDA 12411504
GO:0003725 Function Double-stranded RNA binding IMP 19701182
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID 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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  MicroRNAs in cancer   MicroRNA (miRNA) biogenesis
Small interfering RNA (siRNA) biogenesis
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Carcinoma Carcinoma, Basal Cell rs121912654, rs555607708, rs786202962, rs1564055259
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Euthyroid goiter Euthyroid Goiter rs1595314576, rs1595447577, rs1595374375, rs1595380836, rs387906934, rs754818927, rs1595363945 21205968, 28323992
Global developmental delay, lung cysts, overgrowth, and wilms tumor GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR, Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome rs875989779, rs886037704, rs886037684, rs754081635, rs886037672, rs1595314951, rs1595331224, rs886037691, rs201947254, rs1891064547, rs886037700 24676357
Unknown
Disease name Disease term dbSNP ID References
Alveolar rhabdomyosarcoma Alveolar rhabdomyosarcoma
Hereditary cancer syndrome Neoplastic Syndromes, Hereditary 25118636, 24839956, 23868280, 21266384, 19556464, 25022261, 24909177, 25451712, 26886166, 26925222, 23728841, 21501861
Cerebellar medulloblastoma Cerebellar medulloblastoma
Embryonal rhabdomyosarcoma Embryonal Rhabdomyosarcoma

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