Dkc1 (dyskerin pseudouridine synthase 1) - Rat Genome Database

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Gene: Dkc1 (dyskerin pseudouridine synthase 1) Rattus norvegicus
Analyze
Symbol: Dkc1
Name: dyskerin pseudouridine synthase 1
RGD ID: 621780
Description: Predicted to enable box H/ACA snoRNA binding activity; pseudouridine synthase activity; and telomerase RNA binding activity. Predicted to contribute to telomerase activity. Involved in positive regulation of cell population proliferation and snoRNA guided rRNA pseudouridine synthesis. Located in Cajal body. Part of box H/ACA snoRNP complex. Human ortholog(s) of this gene implicated in X-linked dyskeratosis congenita; aplastic anemia; and dyskeratosis congenita. Orthologous to human DKC1 (dyskerin pseudouridine synthase 1); PARTICIPATES IN ribosome biogenesis pathway; INTERACTS WITH (+)-schisandrin B; 2,3,7,8-tetrachlorodibenzodioxine; 2,3,7,8-Tetrachlorodibenzofuran.
Type: protein-coding
RefSeq Status: PROVISIONAL
Previously known as: dyskeratosis congenita 1, dyskerin; dyskerin; h/ACA ribonucleoprotein complex subunit 4; H/ACA ribonucleoprotein complex subunit DKC1; Nap57; nopp140-associated protein of 57 kDa; nucleolar protein family A member 4; nucleolar protein NAP57; snoRNP protein DKC1
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCr8 - GRCr8 Assembly
NCBI Annotation Information: Annotation category: suggests misassembly; Annotation category: partial on reference assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X157,751,651 - 157,757,796 (+)NCBIGRCr8
UTH_Rnor_SHR_UtxY2,037,843 - 2,053,706 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X158,304,360 - 158,320,224 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X155,976,554 - 155,992,422 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X155,844,914 - 155,862,363 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX155,844,857 - 155,862,475 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01151,564,354 - 151,578,635 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1135,295,501 - 135,310,658 (-)ENTREZGENECelera
Cytogenetic MapX;YNCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


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Object Symbol
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Original Reference(s)
Dkc1Ratanemia  ISODkc1 (Mus musculus)11251731 RGD 
Dkc1Rataplastic anemia  ISODKC1 (Homo sapiens)11251733DNA:missense mutations:exon:p.V105G and p.S121A (human)RGD 
Dkc1RatB-Cell Chronic Lymphocytic Leukemia  ISODKC1 (Homo sapiens)11251735 RGD 
Dkc1Ratdisease of cellular proliferation  ISODkc1 (Mus musculus)11251731 RGD 
Dkc1Ratdyskeratosis congenita  ISODkc1 (Mus musculus)11251731 RGD 
Dkc1Ratdyskeratosis congenita  ISODKC1 (Homo sapiens)11251732DNA:missense mutation:exon: p.P409A (c.1226C>G) (human)RGD 
Dkc1Ratdyskeratosis congenita  ISODKC1 (Homo sapiens)11251734DNA:missense mutations:exon:146C>T (p.T49M), 361A>G (p.S121G) (human)RGD 
Dkc1Ratdyskeratosis congenita  ISODKC1 (Homo sapiens)10755414DNA:missense mutations more ...RGD 
Dkc1Ratdyskeratosis congenita  ISODKC1 (Homo sapiens)734888DNA:missense mutations and deletion: :multipleRGD 
Dkc1Ratlymphopenia  ISODkc1 (Mus musculus)11251731 RGD 
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1 to 19 of 19 rows
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Original Reference(s)
Dkc1Ratadrenoleukodystrophy  ISODKC1 (Homo sapiens)8554872ClinVar Annotator: match by term: AdrenoleukodystrophyClinVarPMID:10480214 more ...
Dkc1Ratautistic disorder  ISODKC1 (Homo sapiens)8554872ClinVar Annotator: match by term: AutismClinVarPMID:21681106 and PMID:30208311
Dkc1Ratautosomal hemophilia A  ISODKC1 (Homo sapiens)8554872ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA AClinVarPMID:31690835
Dkc1RatBarth syndrome  ISODKC1 (Homo sapiens)8554872ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2ClinVarPMID:10480214 more ...
Dkc1RatCataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 1  ISODKC1 (Homo sapiens)8554872ClinVar Annotator: match by term: Cataracts more ...ClinVarPMID:32554502
Dkc1Ratcerebellar hypoplasia  ISODKC1 (Homo sapiens)8554872ClinVar Annotator: match by term: Congenital cerebellar hypoplasiaClinVarPMID:21931702 more ...
Dkc1Ratcerebral creatine deficiency syndrome 1  ISODKC1 (Homo sapiens)8554872ClinVar Annotator: match by term: Creatine transporter deficiencyClinVarPMID:10480214 more ...
Dkc1Ratdyskeratosis congenita  ISODKC1 (Homo sapiens)8554872ClinVar Annotator: match by term: Dyskeratosis congenitaClinVarPMID:10364516 more ...
Dkc1RatEmery-Dreifuss muscular dystrophy  ISODKC1 (Homo sapiens)8554872ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophyClinVarPMID:10480214 more ...
Dkc1Ratfactor VIII deficiency  ISODKC1 (Homo sapiens)8554872ClinVar Annotator: match by term: Factor 8 deficiency and congenitalClinVarPMID:31690835
Dkc1Ratfavism  ISODKC1 (Homo sapiens)8554872ClinVar Annotator: match by term: Anemia more ...ClinVarPMID:10480214 more ...
Dkc1RatHoyeraal Hreidarsson Syndrome  ISODKC1 (Homo sapiens)8554872ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndromeClinVarPMID:10583221 more ...
Dkc1Ratimmunodeficiency 33  ISODKC1 (Homo sapiens)8554872ClinVar Annotator: match by term: Immunodeficiency 33ClinVarPMID:25741868
Dkc1Ratparaplegia  ISODKC1 (Homo sapiens)8554872ClinVar Annotator: match by term: Spastic paraplegiaClinVarPMID:10480214 more ...
Dkc1Ratperiventricular nodular heterotopia  ISODKC1 (Homo sapiens)8554872ClinVar Annotator: match by term: Heterotopia more ...ClinVarPMID:10480214 more ...
Dkc1Ratprimary immunodeficiency disease  ISODKC1 (Homo sapiens)8554872ClinVar Annotator: match by term: Inherited Immunodeficiency DiseasesClinVarPMID:25741868
Dkc1Ratpulmonary fibrosis  ISODKC1 (Homo sapiens)8554872ClinVar Annotator: match by term: Pulmonary fibrosisClinVar 
Dkc1RatSplenomegaly  ISODKC1 (Homo sapiens)8554872ClinVar Annotator: match by term: SplenomegalyClinVarPMID:25741868
Dkc1RatX-linked dyskeratosis congenita  ISODKC1 (Homo sapiens)8554872ClinVar more ...ClinVarPMID:10364516 more ...
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Original Reference(s)
Dkc1Ratdyskeratosis congenita  ISODKC1 (Homo sapiens)11554173CTD Direct Evidence: marker/mechanismCTDPMID:17785587 and PMID:22299032
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Original Reference(s)
Dkc1Ratdyskeratosis congenita  ISSDkc1 (Mus musculus)13592920 MouseDO 
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Original Reference(s)
Dkc1RatCataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 1  ISODKC1 (Homo sapiens)7240710 OMIM 
Dkc1RatX-linked dyskeratosis congenita  ISODKC1 (Homo sapiens)7240710 OMIM 

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Original Reference(s)
Dkc1Rat(+)-schisandrin B multiple interactionsEXP 6480464schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of DKC1 mRNA]CTDPMID:31150632
Dkc1Rat(-)-alpha-phellandrene decreases expressionISODKC1 (Homo sapiens)6480464alpha phellandrene results in decreased expression of DKC1 mRNACTDPMID:25075043
Dkc1Rat1-chloro-2,4-dinitrobenzene decreases expressionISODKC1 (Homo sapiens)6480464Dinitrochlorobenzene results in decreased expression of DKC1 mRNACTDPMID:17374397
Dkc1Rat17beta-estradiol increases expressionISODKC1 (Homo sapiens)6480464Estradiol results in increased expression of DKC1 mRNACTDPMID:23019147 and PMID:31614463
Dkc1Rat2,3,7,8-tetrachlorodibenzodioxine decreases expressionISODKC1 (Homo sapiens)6480464Tetrachlorodibenzodioxin results in decreased expression of DKC1 mRNACTDPMID:20106945 and PMID:21632981
Dkc1Rat2,3,7,8-tetrachlorodibenzodioxine decreases expressionEXP 6480464Tetrachlorodibenzodioxin results in decreased expression of DKC1 mRNACTDPMID:20959002 and PMID:32109520
Dkc1Rat2,3,7,8-tetrachlorodibenzodioxine increases expressionISODKC1 (Homo sapiens)6480464Tetrachlorodibenzodioxin results in increased expression of DKC1 mRNACTDPMID:22903824
Dkc1Rat2,3,7,8-tetrachlorodibenzodioxine decreases expressionISODkc1 (Mus musculus)6480464Tetrachlorodibenzodioxin results in decreased expression of DKC1 mRNACTDPMID:19770486
Dkc1Rat2,3,7,8-Tetrachlorodibenzofuran decreases expressionEXP 64804642 more ...CTDPMID:32109520
Dkc1Rat2,4,6-tribromophenol decreases expressionISODKC1 (Homo sapiens)64804642 more ...CTDPMID:31675489
Dkc1Rat2,4-dinitrotoluene affects expressionEXP 64804642 and 4-dinitrotoluene affects the expression of DKC1 mRNACTDPMID:21346803
Dkc1Rat2-bromohexadecanoic acid multiple interactionsISODKC1 (Homo sapiens)64804642-bromopalmitate inhibits the reaction [[Cadmium Chloride results in increased abundance of Cadmium] which results in increased palmitoylation of DKC1 protein]CTDPMID:38195004
Dkc1Rat2-butoxyethanol increases expressionISODkc1 (Mus musculus)6480464n-butoxyethanol results in increased expression of DKC1 mRNACTDPMID:19812364
Dkc1Rat2-nitrofluorene decreases expressionEXP 64804642-nitrofluorene results in decreased expression of DKC1 mRNACTDPMID:15890375
Dkc1Rat3,3',5,5'-tetrabromobisphenol A increases expressionISODKC1 (Homo sapiens)6480464tetrabromobisphenol A results in increased expression of DKC1 proteinCTDPMID:31675489
Dkc1Rat3-chloropropane-1,2-diol increases expressionEXP 6480464alpha-Chlorohydrin results in increased expression of DKC1 proteinCTDPMID:34915118
Dkc1Rat4,4'-sulfonyldiphenol increases expressionISODkc1 (Mus musculus)6480464bisphenol S results in increased expression of DKC1 mRNACTDPMID:39298647
Dkc1Rat4,4'-sulfonyldiphenol multiple interactionsEXP 6480464[bisphenol A co-treated with bisphenol F co-treated with bisphenol S] results in decreased expression of DKC1 mRNACTDPMID:36041667
Dkc1Rat4-(ethoxymethylene)-2-phenyloxazol-5-one decreases expressionISODKC1 (Homo sapiens)6480464Oxazolone results in decreased expression of DKC1 mRNACTDPMID:17374397
Dkc1Rat4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one increases expressionEXP 64804644-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone results in increased expression of DKC1 mRNACTDPMID:15890375

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Biological Process
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Original Reference(s)
Dkc1Ratbox H/ACA sno(s)RNA 3'-end processing involved_inIBAPANTHER:PTN000565614 and SGD:S0000041651600115GO_REF:0000033GO_CentralGO_REF:0000033
Dkc1Ratbox H/ACA sno(s)RNA metabolic process acts_upstream_of_or_withinISODkc1 (Mus musculus)1624291MGI:2446500 PMID:23726835RGDPMID:23726835
Dkc1Ratenzyme-directed rRNA pseudouridine synthesis involved_inISSUniProtKB:O608321600115GO_REF:0000024UniProtGO_REF:0000024
Dkc1Ratenzyme-directed rRNA pseudouridine synthesis involved_inISODKC1 (Homo sapiens)1624291 PMID:25219674RGDPMID:25219674
Dkc1RatmRNA pseudouridine synthesis involved_inIBAPANTHER:PTN000565614 and SGD:S0000041651600115GO_REF:0000033GO_CentralGO_REF:0000033
Dkc1Ratpositive regulation of cell population proliferation  IDA 633515 RGD 
Dkc1Ratpositive regulation of telomerase RNA localization to Cajal body involved_inISODKC1 (Homo sapiens)1624291 PMID:25467444RGDPMID:25467444
Dkc1Ratpositive regulation of telomere maintenance via telomerase acts_upstream_ofISODKC1 (Homo sapiens)1624291 PMID:23685356 and PMID:25467444RGDPMID:23685356 and PMID:25467444
Dkc1Ratpositive regulation of telomere maintenance via telomerase acts_upstream_of_or_withinISODkc1 (Mus musculus)1624291MGI:3849598 PMID:15240872RGDPMID:15240872
Dkc1Ratprotein localization to Cajal body acts_upstream_of_or_withinISODKC1 (Homo sapiens)9068941 PMID:25467444BHF-UCLPMID:25467444
Dkc1Ratpseudouridine synthesis involved_inIEAARBA:ARBA000282941600115GO_REF:0000117UniProtGO_REF:0000117
Dkc1Ratpseudouridine synthesis involved_inIEAInterPro:IPR0201031600115GO_REF:0000002InterProGO_REF:0000002
Dkc1Ratregulation of telomerase RNA localization to Cajal body involved_inISODKC1 (Homo sapiens)1624291 PMID:26950371RGDPMID:26950371
Dkc1Ratribosome biogenesis involved_inIEAUniProtKB-KW:KW-06901600115GO_REF:0000043UniProtGO_REF:0000043
Dkc1RatRNA modification involved_inIEAInterPro:IPR0201031600115GO_REF:0000002InterProGO_REF:0000002
Dkc1RatRNA processing involved_inIEAInterPro:IPR002501 and InterPro:IPR0048021600115GO_REF:0000002InterProGO_REF:0000002
Dkc1RatrRNA processing involved_inIEAUniProtKB-KW:KW-06981600115GO_REF:0000043UniProtGO_REF:0000043
Dkc1RatrRNA pseudouridine synthesis acts_upstream_of_or_withinISODkc1 (Mus musculus)1624291MGI:2446500 more ...RGDPMID:15240872 and PMID:23726835
Dkc1RatrRNA pseudouridine synthesis involved_inIBAMGI:1861727 more ...1600115GO_REF:0000033GO_CentralGO_REF:0000033
Dkc1RatscaRNA localization to Cajal body acts_upstream_of_or_withinISODKC1 (Homo sapiens)1624291 PMID:25467444RGDPMID:25467444
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Cellular Component
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Object Symbol
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Original Reference(s)
Dkc1Ratbox H/ACA snoRNP complex  IDA 633515 RGD 
Dkc1Ratbox H/ACA snoRNP complex part_ofIBAPANTHER:PTN000565615 more ...1600115GO_REF:0000033GO_CentralGO_REF:0000033
Dkc1Ratbox H/ACA snoRNP complex part_ofISODKC1 (Homo sapiens)1624291 PMID:18082603RGDPMID:18082603
Dkc1Ratbox H/ACA snoRNP complex  IDA 633420 RGD 
Dkc1Ratbox H/ACA telomerase RNP complex part_ofISODKC1 (Homo sapiens)1624291 PMID:18082603RGDPMID:18082603
Dkc1RatCajal body  IDA 728589 RGD 
Dkc1RatCajal body located_inISODkc1 (Mus musculus)1624291 PMID:23726835RGDPMID:23726835
Dkc1RatCajal body located_inIEAUniProtKB-SubCell:SL-00311600115GO_REF:0000044UniProtGO_REF:0000044
Dkc1Ratfibrillar center located_inISODKC1 (Homo sapiens) and UniProtKB:O60832-11624291 RGDGO_REF:0000052
Dkc1Ratnucleolus located_inISODkc1 (Mus musculus)1624291 PMID:23726835RGDPMID:23726835
Dkc1Ratnucleolus located_inIEAUniProtKB-SubCell:SL-01881600115GO_REF:0000044UniProtGO_REF:0000044
Dkc1Ratnucleoplasm  IDA 728589 RGD 
Dkc1Ratnucleoplasm located_inISODKC1 (Homo sapiens) and UniProtKB:O60832-11624291 RGDGO_REF:0000052
Dkc1Ratnucleus located_inISODKC1 (Homo sapiens)1624291 RGDGO_REF:0000054
Dkc1Ratnucleus located_inIEAUniProtKB-KW:KW-05391600115GO_REF:0000043UniProtGO_REF:0000043
Dkc1Ratribonucleoprotein complex part_ofIEAUniProtKB-KW:KW-06871600115GO_REF:0000043UniProtGO_REF:0000043
Dkc1Rattelomerase holoenzyme complex part_ofISSUniProtKB:O608321600115GO_REF:0000024UniProtGO_REF:0000024
Dkc1Rattelomerase holoenzyme complex part_ofISODKC1 (Homo sapiens)1624291 PMID:12135483 more ...RGDPMID:12135483 more ...
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Molecular Function
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Original Reference(s)
Dkc1Ratbox H/ACA snoRNA binding enablesISODKC1 (Homo sapiens)1624291RNAcentral:URS0000210FD6_9606 PMID:18082603RGDPMID:18082603
Dkc1Ratisomerase activity enablesIEAUniProtKB-KW:KW-04131600115GO_REF:0000043UniProtGO_REF:0000043
Dkc1Ratprotein binding  IPINolc1 (Rattus norvegicus)728589 RGD 
Dkc1Ratprotein binding enablesISODKC1 (Homo sapiens)1624291UniProtKB:P19712-PRO_0000038050 more ...RGDPMID:16601202 more ...
Dkc1Ratprotein binding enablesIPIUniProtKB:D3ZMP68554465PMID:16618814IntAct 
Dkc1Ratprotein binding enablesIPIUniProtKB:Q96HR88554465PMID:16618814IntAct 
Dkc1Ratprotein binding enablesISODkc1 (Mus musculus)1624291UniProtKB:Q8BJA3 and PMID:23685356RGDPMID:23685356
Dkc1Ratprotein binding  IPIGar1 (Rattus norvegicus)633420 RGD 
Dkc1Ratprotein binding  IPINop10 (Rattus norvegicus)10766448 RGD 
Dkc1Ratpseudouridine synthase activity enablesISODKC1 (Homo sapiens)1624291 PMID:25219674RGDPMID:25219674
Dkc1Ratpseudouridine synthase activity enablesIBAPANTHER:PTN000565614 and UniProtKB:O608321600115GO_REF:0000033GO_CentralGO_REF:0000033
Dkc1Ratpseudouridine synthase activity enablesISSUniProtKB:O608321600115GO_REF:0000024UniProtGO_REF:0000024
Dkc1Ratpseudouridine synthase activity enablesIEAInterPro:IPR0201031600115GO_REF:0000002InterProGO_REF:0000002
Dkc1RatRNA binding enablesIEAUniProtKB-KW:KW-06941600115GO_REF:0000043UniProtGO_REF:0000043
Dkc1RatRNA binding enablesIEAInterPro:IPR002478 more ...1600115GO_REF:0000002InterProGO_REF:0000002
Dkc1RatRNA binding enablesISODKC1 (Homo sapiens)1624291RNAcentral:URS00004416C5_9606 PMID:18082603 more ...RGDPMID:18082603 more ...
Dkc1Rattelomerase activity contributes_toISODKC1 (Homo sapiens)1624291 PMID:23685356RGDPMID:23685356
Dkc1Rattelomerase activity enablesISODKC1 (Homo sapiens)1624291 PMID:12135483RGDPMID:12135483
Dkc1Rattelomerase RNA binding enablesISODKC1 (Homo sapiens)1624291RNAcentral:URS00004A7003_9606 PMID:18082603 more ...RGDPMID:18082603 more ...
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RGD Manual Annotations


  
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Original Reference(s)
Dkc1Ratribosome biogenesis pathway   ISODKC1 (Homo sapiens)9999451 RGD 

Imported Annotations - KEGG (archival)

Object Symbol
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Term
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Original Reference(s)
Dkc1Ratribosome biogenesis pathway   IEA 6907045 KEGGrno:03008

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#
Reference Title
Reference Citation
1. Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene. Alder JK, etal., Hum Mutat. 2013 Nov;34(11):1481-5. doi: 10.1002/humu.22397. Epub 2013 Sep 11.
2. Stepwise RNP assembly at the site of H/ACA RNA transcription in human cells. Darzacq X, etal., J Cell Biol. 2006 Apr 24;173(2):207-18. Epub 2006 Apr 17.
3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
4. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Heiss NS, etal., Nat Genet 1998 May;19(1):32-8.
5. X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. Knight SW, etal., Am J Hum Genet. 1999 Jul;65(1):50-8.
6. Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. Knight SW, etal., Br J Haematol. 1999 Nov;107(2):335-9.
7. NAP57, a mammalian nucleolar protein with a putative homolog in yeast and bacteria. Meier UT and Blobel G, J Cell Biol 1994 Dec;127(6 Pt 1):1505-14.
8. Electronic Transfer of LocusLink and RefSeq Data NCBI rat LocusLink and RefSeq merged data July 26, 2002
9. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
10. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
11. Changes in the expression of telomere maintenance genes suggest global telomere dysfunction in B-chronic lymphocytic leukemia. Poncet D, etal., Blood. 2008 Feb 15;111(4):2388-91. Epub 2007 Dec 12.
12. GOA pipeline RGD automated data pipeline
13. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
14. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
15. Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification. Ruggero D, etal., Science. 2003 Jan 10;299(5604):259-62.
16. Mutational analysis of telomere complex genes in Indian population with acquired aplastic anemia. Singh I, etal., Leuk Res. 2015 Sep 7. pii: S0145-2126(15)30370-2. doi: 10.1016/j.leukres.2015.08.018.
17. Architecture and assembly of mammalian H/ACA small nucleolar and telomerase ribonucleoproteins. Wang C and Meier UT, EMBO J. 2004 Apr 21;23(8):1857-67. Epub 2004 Mar 25.
18. Immunopurified small nucleolar ribonucleoprotein particles pseudouridylate rRNA independently of their association with phosphorylated Nopp140. Wang C, etal., Mol Cell Biol 2002 Dec;22(24):8457-66.
19. The box C/D and H/ACA snoRNPs: key players in the modification, processing and the dynamic folding of ribosomal RNA. Watkins NJ and Bohnsack MT, Wiley Interdiscip Rev RNA. 2012 May-Jun;3(3):397-414. doi: 10.1002/wrna.117. Epub 2011 Nov 7.
20. Conserved composition of mammalian box H/ACA and box C/D small nucleolar ribonucleoprotein particles and their interaction with the common factor Nopp140. Yang Y, etal., Mol Biol Cell 2000 Feb;11(2):567-77.
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PMID:12135483   PMID:12477932   PMID:15240872   PMID:18082603   PMID:20351177   PMID:22206666   PMID:22527283   PMID:22658674   PMID:23685356   PMID:23726835   PMID:25219674   PMID:25467444  
PMID:26950371   PMID:29695869  



Dkc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X157,751,651 - 157,757,796 (+)NCBIGRCr8
UTH_Rnor_SHR_UtxY2,037,843 - 2,053,706 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X158,304,360 - 158,320,224 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X155,976,554 - 155,992,422 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X155,844,914 - 155,862,363 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX155,844,857 - 155,862,475 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01151,564,354 - 151,578,635 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1135,295,501 - 135,310,658 (-)ENTREZGENECelera
Cytogenetic MapX;YNCBI
DKC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X154,762,864 - 154,777,689 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX154,762,742 - 154,777,689 (+)EnsemblGRCh38hg38GRCh38
GRCh37X153,991,139 - 154,005,964 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,644,344 - 153,659,154 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X153,554,853 - 153,569,664NCBI
CeleraX154,149,596 - 154,164,527 (+)NCBICelera
Cytogenetic MapXq28NCBI
HuRefX142,534,593 - 142,549,324 (+)NCBIHuRef
CHM1_1X153,902,723 - 153,917,646 (+)NCBICHM1_1
T2T-CHM13v2.0X152,999,274 - 153,014,101 (+)NCBIT2T-CHM13v2.0
Dkc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X74,139,460 - 74,153,382 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX74,139,460 - 74,153,383 (+)EnsemblGRCm39 Ensembl
GRCm38X75,095,854 - 75,109,776 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX75,095,854 - 75,109,777 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X72,341,193 - 72,355,115 (+)NCBIGRCm37MGSCv37mm9NCBIm37
CeleraX66,500,704 - 66,514,600 (+)NCBICelera
Cytogenetic MapXA7.3NCBI
cM MapX38.15NCBI
Dkc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955594847,815 - 856,510 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955594846,997 - 857,255 (-)NCBIChiLan1.0ChiLan1.0
DKC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X154,742,073 - 154,756,376 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X154,745,681 - 154,759,888 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X144,243,493 - 144,257,419 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X154,084,412 - 154,098,475 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX154,084,412 - 154,098,475 (+)Ensemblpanpan1.1panPan2
DKC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X122,838,787 - 122,850,870 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX122,838,645 - 122,850,884 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX107,832,003 - 107,844,116 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X125,964,983 - 125,977,098 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX125,965,006 - 125,977,095 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X121,712,979 - 121,725,092 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X124,236,220 - 124,248,333 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X123,929,308 - 123,941,420 (+)NCBIUU_Cfam_GSD_1.0
Dkc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X119,776,274 - 119,785,590 (+)NCBIHiC_Itri_2
SpeTri2.0NW_004936927134,770 - 144,057 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DKC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX125,218,923 - 125,229,525 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X125,218,928 - 125,228,881 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X143,254,306 - 143,264,249 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DKC1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X129,015,883 - 129,029,741 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX129,016,046 - 129,030,001 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606566,994,088 - 67,007,910 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dkc1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624963469,408 - 479,207 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624963468,673 - 479,317 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

.

Predicted Target Of
Summary Value
Count of predictions:30
Count of miRNA genes:29
Interacting mature miRNAs:29
Transcripts:ENSRNOT00000074205
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

RH138539  
Rat AssemblyChrPosition (strand)SourceJBrowse
Rnor_6.0X155,845,378 - 155,845,963NCBIRnor6.0
Rnor_5.01151,564,818 - 151,565,403UniSTSRnor5.0
Celera1135,295,965 - 135,296,550UniSTS
RH 3.4 Map11621.02UniSTS




alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
9 11 49 113 91 90 59 25 59 6 218 97 93 45 60 31



Ensembl Acc Id: ENSRNOT00000079862
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.0 EnsemblX155,844,857 - 155,862,475 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000089847   ⟹   ENSRNOP00000074005
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.0 EnsemblX155,844,914 - 155,862,363 (-)Ensembl
RefSeq Acc Id: NM_133419   ⟹   NP_596910
RefSeq Status: PROVISIONAL
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8X157,751,651 - 157,757,796 (+)NCBI
Rnor_6.0X155,844,914 - 155,862,363 (-)NCBI
Rnor_5.01151,564,354 - 151,578,635 (-)NCBI
Celera1135,295,501 - 135,310,658 (-)ENTREZGENE
Sequence:
Protein RefSeqs NP_596910 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH99832 (Get FASTA)   NCBI Sequence Viewer  
  CAA84402 (Get FASTA)   NCBI Sequence Viewer  
  EDL84960 (Get FASTA)   NCBI Sequence Viewer  
  EDL84961 (Get FASTA)   NCBI Sequence Viewer  
  P40615 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_596910   ⟸   NM_133419
- UniProtKB: Q499M9 (UniProtKB/Swiss-Prot),   P40615 (UniProtKB/Swiss-Prot),   A0A0G2K700 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSRNOP00000074005   ⟸   ENSRNOT00000089847
Dyskerin-like   PUA

Name Modeler Protein Id AA Range Protein Structure
AF-P40615-F1-model_v2 AlphaFold P40615 1-509 view protein structure


eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen

RGD ID:13702036
Promoter ID:EPDNEW_R12560
Type:initiation region
Name:Dkc1_1
Description:dyskerin pseudouridine synthase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.0X155,862,365 - 155,862,425EPDNEW


1 to 38 of 38 rows
Database
Acc Id
Source(s)
BioCyc Gene G2FUF-433 BioCyc
Ensembl Genes ENSRNOG00000055562 Ensembl
Gene3D-CATH 2.30.130.10 UniProtKB/Swiss-Prot
  Pseudouridine synthase UniProtKB/Swiss-Prot
IMAGE_CLONE IMAGE:7314767 IMAGE-MGC_LOAD
  IMAGE:7934021 IMAGE-MGC_LOAD
InterPro Dyskerin-like UniProtKB/Swiss-Prot
  PsdUridine_synth_cat_dom_sf UniProtKB/Swiss-Prot
  PsdUridine_synth_N UniProtKB/Swiss-Prot
  PUA UniProtKB/Swiss-Prot
  PUA-like_sf UniProtKB/Swiss-Prot
  PUA_sf UniProtKB/Swiss-Prot
  tRNA_PsdUridine_synth_B_fam UniProtKB/Swiss-Prot
  TruB_C UniProtKB/Swiss-Prot
  Uncharacterised_CHP00451 UniProtKB/Swiss-Prot
KEGG Report rno:170944 UniProtKB/Swiss-Prot
MGC_CLONE MGC:105335 IMAGE-MGC_LOAD
  MGC:124569 IMAGE-MGC_LOAD
NCBI Gene 170944 ENTREZGENE
PANTHER H/ACA RIBONUCLEOPROTEIN COMPLEX SUBUNIT DKC1 UniProtKB/Swiss-Prot
  PTHR23127 UniProtKB/Swiss-Prot
Pfam DKCLD UniProtKB/Swiss-Prot
  PUA UniProtKB/Swiss-Prot
  TruB_C_2 UniProtKB/Swiss-Prot
  TruB_N UniProtKB/Swiss-Prot
PhenoGen Dkc1 PhenoGen
PROSITE PUA UniProtKB/Swiss-Prot
RatGTEx ENSRNOG00000055562 RatGTEx
SMART DKCLD UniProtKB/Swiss-Prot
  PUA UniProtKB/Swiss-Prot
Superfamily-SCOP SSF55120 UniProtKB/Swiss-Prot
  SSF88697 UniProtKB/Swiss-Prot
UniProt A0A0G2K700 ENTREZGENE, UniProtKB/TrEMBL
  A6KRP4_RAT UniProtKB/TrEMBL
  A6KRP5_RAT UniProtKB/TrEMBL
  DKC1_RAT UniProtKB/Swiss-Prot, ENTREZGENE
  Q499M9 ENTREZGENE
UniProt Secondary Q499M9 UniProtKB/Swiss-Prot
1 to 38 of 38 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-24 Dkc1  dyskerin pseudouridine synthase 1  Dkc1  dyskeratosis congenita 1, dyskerin  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2005-01-20 Dkc1  dyskeratosis congenita 1, dyskerin      Symbol and Name status set to approved 1299863 APPROVED
2002-08-07 Dkc1  dyskeratosis congenita 1, dyskerin      Symbol and Name status set to provisional 70820 PROVISIONAL

Note Type Note Reference
gene_cellular_localization protein localized to fibrillar component of the nucleolus, to coiled bodies, and to the nucleoplasm 728589
gene_expression protein expressed in liver 728589
gene_homology 71% identical to putative yeast (S. cerevisiae) homolog, 50% identical to prokaryotic (E. coli) homolog 728589
gene_physical_interaction protein colocalized with Nopp140 in nuclei of liver cells 728589
gene_protein calculated mass of 52 kDa 728589