Dkc1 (dyskeratosis congenita 1, dyskerin) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: Dkc1 (dyskeratosis congenita 1, dyskerin) Mus musculus
Analyze
Symbol: Dkc1
Name: dyskeratosis congenita 1, dyskerin
RGD ID: 1615626
MGI Page MGI
Description: Predicted to enable RNA binding activity; pseudouridine synthase activity; and telomerase activity. Acts upstream of or within box H/ACA RNA metabolic process; positive regulation of telomere maintenance via telomerase; and rRNA pseudouridine synthesis. Located in Cajal body and nucleolus. Is expressed in several structures, including brain; epithelium; genitourinary system; skin; and surface ectoderm. Used to study dyskeratosis congenita. 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).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: BC068171; dyskeratosis congenita 1, dyskerin homolog; dyskerin; H/ACA ribonucleoprotein complex subunit 4; H/ACA ribonucleoprotein complex subunit DKC1; MGC107501; nopp140-associated protein of 57 kDa; nucleolar protein family A member 4; nucleolar protein NAP57; RP23-62O13.1; snoRNP protein DKC1
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: Gm13776   Gm19031   Gm19052  
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
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
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-alpha-phellandrene  (ISO)
1-chloro-2,4-dinitrobenzene  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-tribromophenol  (ISO)
2,4-dinitrotoluene  (ISO)
2-butoxyethanol  (EXP)
2-nitrofluorene  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-amino-2,6-dinitrotoluene  (ISO)
afimoxifene  (ISO)
aflatoxin B1  (EXP,ISO)
alpha-phellandrene  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (ISO)
bicalutamide  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (ISO)
bisphenol F  (ISO)
C60 fullerene  (ISO)
caffeine  (ISO)
carbon nanotube  (EXP)
CGP 52608  (ISO)
chloropicrin  (ISO)
choline  (EXP)
cisplatin  (EXP)
cobalt dichloride  (ISO)
coumestrol  (ISO)
cyclosporin A  (ISO)
decabromodiphenyl ether  (ISO)
deoxynivalenol  (EXP)
diethylstilbestrol  (ISO)
disodium selenite  (ISO)
Enterolactone  (ISO)
epoxiconazole  (EXP)
ethanol  (EXP)
ethyl methanesulfonate  (ISO)
eugenol  (ISO)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (EXP)
folpet  (EXP)
FR900359  (ISO)
glyphosate  (EXP,ISO)
hexadecanoic acid  (ISO)
hydrogen peroxide  (ISO)
ivermectin  (ISO)
L-methionine  (EXP)
lead(0)  (ISO)
menadione  (ISO)
methapyrilene  (ISO)
methoxychlor  (ISO)
methyl methanesulfonate  (ISO)
methylmercury chloride  (ISO)
methylparaben  (ISO)
methylseleninic acid  (ISO)
N,N-diethyl-m-toluamide  (ISO)
N-nitrosodimethylamine  (ISO)
nickel sulfate  (ISO)
oxaliplatin  (ISO)
paraquat  (ISO)
pentachlorophenol  (EXP)
perfluorononanoic acid  (ISO)
perfluorooctanoic acid  (ISO)
permethrin  (ISO)
phenobarbital  (EXP)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
resveratrol  (ISO)
rotenone  (ISO)
SB 431542  (ISO)
silicon dioxide  (ISO)
Soman  (ISO)
succimer  (EXP)
temozolomide  (ISO)
tetrachloromethane  (EXP,ISO)
topotecan  (ISO)
Tributyltin oxide  (EXP)
triptonide  (EXP)
tungsten  (EXP)
urethane  (ISO)
valproic acid  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal bone marrow cell morphology/development  (IAGP)
abnormal bone marrow cell physiology  (IAGP)
abnormal cell morphology  (IAGP)
abnormal cell physiology  (IAGP)
abnormal definitive hematopoiesis  (IAGP)
abnormal DNA repair  (IAGP)
abnormal embryo development  (IAGP)
abnormal epidermis stratum granulosum morphology  (IAGP)
abnormal epidermis stratum spinosum morphology  (IAGP)
abnormal erythrocyte morphology  (IAGP)
abnormal fertility/fecundity  (IAGP)
abnormal hematopoietic system morphology/development  (IAGP)
abnormal hematopoietic system physiology  (IAGP)
abnormal immune system cell morphology  (IAGP)
abnormal immune system organ morphology  (IAGP)
abnormal kidney morphology  (IAGP)
abnormal lung morphology  (IAGP)
abnormal proximal convoluted tubule morphology  (IAGP)
abnormal pulmonary alveolar parenchyma morphology  (IAGP)
abnormal pulmonary alveolus morphology  (IAGP)
abnormal pulmonary alveolus wall morphology  (IAGP)
abnormal skin morphology  (IAGP)
abnormal spleen morphology  (IAGP)
anemia  (IAGP)
decreased B cell number  (IAGP)
decreased body weight  (IAGP)
decreased bone marrow cell number  (IAGP)
decreased common myeloid progenitor cell number  (IAGP)
decreased embryo size  (IAGP)
decreased erythroid progenitor cell number  (IAGP)
decreased fibroblast proliferation  (IAGP)
decreased hematopoietic stem cell proliferation  (IAGP)
decreased hemoglobin content  (IAGP)
decreased leukocyte cell number  (IAGP)
decreased lymphocyte cell number  (IAGP)
decreased pre-B cell number  (IAGP)
decreased spleen red pulp amount  (IAGP)
decreased spleen white pulp amount  (IAGP)
decreased T cell number  (IAGP)
decreased telomere length  (IAGP)
dyskeratosis  (IAGP)
embryonic growth arrest  (IAGP)
embryonic lethality between implantation and somite formation, complete penetrance  (IAGP)
embryonic lethality during organogenesis, complete penetrance  (IAGP)
enlarged spleen  (IAGP)
epidermal hyperplasia  (IAGP)
extramedullary hematopoiesis  (IAGP)
failure of initiation of embryo turning  (IAGP)
glomerulosclerosis  (IAGP)
increased B cell derived lymphoma incidence  (IAGP)
increased fibroblast apoptosis  (IAGP)
increased fibrosarcoma incidence  (IAGP)
increased lung carcinoma incidence  (IAGP)
increased malignant tumor incidence  (IAGP)
increased mammary adenocarcinoma incidence  (IAGP)
increased pheochromocytoma incidence  (IAGP)
increased renal carcinoma incidence  (IAGP)
increased total body fat amount  (IAGP)
increased trophectoderm apoptosis  (IAGP)
increased tumor incidence  (IAGP)
lung inflammation  (IAGP)
no abnormal phenotype detected  (IAGP)
oxidative stress  (IAGP)
pulmonary interstitial fibrosis  (IAGP)
renal tubule atrophy  (IAGP)
thrombocytopenia  (IAGP)
transmission ratio distortion  (IAGP)
trophectoderm cell degeneration  (IAGP)
References

References - curated
# 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. 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.
3. 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.
4. 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.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
7. 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.
8. Mouse MP Annotation Import Pipeline RGD automated import pipeline
9. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification. Ruggero D, etal., Science. 2003 Jan 10;299(5604):259-62.
12. 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.
13. 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.
Additional References at PubMed
PMID:10349636   PMID:10679015   PMID:10903840   PMID:10922068   PMID:11042159   PMID:11076861   PMID:11217851   PMID:12137939   PMID:12400016   PMID:12466851   PMID:12477932   PMID:14610273  
PMID:15240872   PMID:16141072   PMID:16141073   PMID:16452087   PMID:16690864   PMID:17822678   PMID:18626023   PMID:19391112   PMID:19729012   PMID:19917719   PMID:20301779   PMID:20351177  
PMID:20423331   PMID:20453831   PMID:20587522   PMID:21189492   PMID:21241452   PMID:21267068   PMID:21745483   PMID:21873635   PMID:22160078   PMID:22285015   PMID:22855157   PMID:23685356  
PMID:23726835   PMID:24457600   PMID:26336360   PMID:28378742   PMID:32325033   PMID:34321999   PMID:37097350   PMID:37426487  


Genomics

Comparative Map Data
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
(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
(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
(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

Variants

.
Variants in Dkc1
288 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1579
Count of miRNA genes:746
Interacting mature miRNAs:940
Transcripts:ENSMUST00000033776, ENSMUST00000131155, ENSMUST00000131867, ENSMUST00000132000, ENSMUST00000135389, ENSMUST00000137286, ENSMUST00000140609, ENSMUST00000145222, ENSMUST00000151327, ENSMUST00000153844, ENSMUST00000154422, ENSMUST00000154936
Prediction methods:Miranda, Pita, 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.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1357433Dbts2_mdiabetes 2 (mouse)Not determinedX7226295150107038Mouse
13208567Bmiq12_mbody mass index QTL 12 (mouse)X3526365377043606Mouse
1300794Spha2_msperm head anomaly 2 (mouse)Not determinedX3992149886260137Mouse
4142200Rtwq1_mreduced testis weight QTL 1 (mouse)Not determined4147706075477203Mouse
1301278Bdln1_mbody length 1 (mouse)Not determinedX4170210675702218Mouse
1300702Fcsa4_mfemoral cross-sectional area 4 (mouse)Not determinedX4602744480027567Mouse
4141630Gct6_mgranulosa cell tumorigenesis 6 (mouse)Not determined47179121129764756Mouse
25314311Syncl3_msynaptonemal complex length 3 (mouse)X5198887789743606Mouse
13824980Ferq1_mgenetic fertility QTL 1 (mouse)X54045360148782996Mouse
10412108Desp5_mdespair 5 (mouse)Not determinedX5472235188722351Mouse
13464140Hdlq108_mHDL QTL 108 (mouse)X5777196091771960Mouse
25314316Mlh1fc3_mMLH1 foci count 3 (mouse)X6134360689843606Mouse
25314318Sccor2_msynaptonemal complex length to mean MLH1 count ratio 2 (mouse)X7054360696543606Mouse
1357730Hstx1_mhybrid sterility, X chromosome 1 (mouse)Not determinedX7145385277600812Mouse
4141665Mhysq2_mmale hybrid sterility QTL 2 (mouse)Not determined71453852139203212Mouse
12879918Shm4_msperm head morphology 4 (mouse)X72072050102062720Mouse

Markers in Region
RH124452  
Mouse AssemblyChrPosition (strand)SourceJBrowse
MGSCv37254,137,391 - 54,137,541UniSTSGRCm37
MGSCv37291,556,743 - 91,556,892UniSTSGRCm37
Celera293,105,422 - 93,105,571UniSTS
Celera256,055,011 - 56,055,161UniSTS
Cytogenetic MapXA7.3UniSTS
Cytogenetic Map2C1.1UniSTS


Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001030307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001359411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001359412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001359413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_030251338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC124027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ250972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ250973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ250974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ250975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ250976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ250977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ250978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ250979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ250980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ250981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ416348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK136418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK144139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK166105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK167973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL808110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BY121749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BY126448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF751662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENSMUST00000033776   ⟹   ENSMUSP00000033776
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 EnsemblX74,139,460 - 74,153,383 (+)Ensembl
GRCm38.p6 EnsemblX75,095,854 - 75,109,777 (+)Ensembl
RefSeq Acc Id: ENSMUST00000131155   ⟹   ENSMUSP00000120441
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 EnsemblX74,139,659 - 74,146,156 (+)Ensembl
GRCm38.p6 EnsemblX75,096,053 - 75,102,550 (+)Ensembl
RefSeq Acc Id: ENSMUST00000131867
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 EnsemblX74,139,707 - 74,142,553 (+)Ensembl
GRCm38.p6 EnsemblX75,096,101 - 75,098,947 (+)Ensembl
RefSeq Acc Id: ENSMUST00000132000   ⟹   ENSMUSP00000121957
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 EnsemblX74,139,692 - 74,142,493 (+)Ensembl
GRCm38.p6 EnsemblX75,096,086 - 75,098,887 (+)Ensembl
RefSeq Acc Id: ENSMUST00000135389
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 EnsemblX74,139,705 - 74,142,403 (+)Ensembl
GRCm38.p6 EnsemblX75,096,099 - 75,098,797 (+)Ensembl
RefSeq Acc Id: ENSMUST00000137286
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 EnsemblX74,149,555 - 74,151,882 (+)Ensembl
GRCm38.p6 EnsemblX75,105,949 - 75,108,276 (+)Ensembl
RefSeq Acc Id: ENSMUST00000140609   ⟹   ENSMUSP00000117706
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 EnsemblX74,139,721 - 74,146,078 (+)Ensembl
GRCm38.p6 EnsemblX75,096,115 - 75,102,472 (+)Ensembl
RefSeq Acc Id: ENSMUST00000145222
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 EnsemblX74,140,152 - 74,142,425 (+)Ensembl
GRCm38.p6 EnsemblX75,096,546 - 75,098,819 (+)Ensembl
RefSeq Acc Id: ENSMUST00000151327
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 EnsemblX74,143,524 - 74,150,817 (+)Ensembl
GRCm38.p6 EnsemblX75,099,918 - 75,107,211 (+)Ensembl
RefSeq Acc Id: ENSMUST00000153844   ⟹   ENSMUSP00000121253
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 EnsemblX74,143,659 - 74,151,849 (+)Ensembl
GRCm38.p6 EnsemblX75,100,053 - 75,108,243 (+)Ensembl
RefSeq Acc Id: ENSMUST00000154422
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 EnsemblX74,144,554 - 74,149,372 (+)Ensembl
GRCm38.p6 EnsemblX75,100,948 - 75,105,766 (+)Ensembl
RefSeq Acc Id: ENSMUST00000154936
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 EnsemblX74,143,865 - 74,149,324 (+)Ensembl
GRCm38.p6 EnsemblX75,100,259 - 75,105,718 (+)Ensembl
RefSeq Acc Id: NM_001030307   ⟹   NP_001025478
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39X74,139,460 - 74,153,382 (+)NCBI
GRCm38X75,095,854 - 75,109,776 (+)NCBI
MGSCv37X72,341,193 - 72,355,115 (+)RGD
CeleraX66,500,704 - 66,514,600 (+)RGD
cM MapX ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001359411   ⟹   NP_001346340
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39X74,139,460 - 74,153,382 (+)NCBI
GRCm38X75,095,854 - 75,109,776 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001359412   ⟹   NP_001346341
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39X74,139,460 - 74,153,382 (+)NCBI
GRCm38X75,095,854 - 75,109,776 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001359413   ⟹   NP_001346342
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39X74,139,460 - 74,153,382 (+)NCBI
GRCm38X75,095,854 - 75,109,776 (+)NCBI
Sequence:
RefSeq Acc Id: XM_030251338   ⟹   XP_030107198
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39X74,139,460 - 74,149,991 (+)NCBI
GRCm38X75,095,854 - 75,106,385 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001025478   ⟸   NM_001030307
- Peptide Label: isoform 3
- UniProtKB: Q3UWE5 (UniProtKB/Swiss-Prot),   Q9ESX5 (UniProtKB/Swiss-Prot),   Q3TI79 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001346342   ⟸   NM_001359413
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001346340   ⟸   NM_001359411
- Peptide Label: isoform 1
- UniProtKB: Q3TI79 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001346341   ⟸   NM_001359412
- Peptide Label: isoform 2
- UniProtKB: Q3TI79 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_030107198   ⟸   XM_030251338
- Peptide Label: isoform X1
- UniProtKB: Q3TM67 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSMUSP00000121957   ⟸   ENSMUST00000132000
RefSeq Acc Id: ENSMUSP00000120441   ⟸   ENSMUST00000131155
RefSeq Acc Id: ENSMUSP00000033776   ⟸   ENSMUST00000033776
RefSeq Acc Id: ENSMUSP00000117706   ⟸   ENSMUST00000140609
RefSeq Acc Id: ENSMUSP00000121253   ⟸   ENSMUST00000153844
Protein Domains
Dyskerin-like   PUA

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9ESX5-F1-model_v2 AlphaFold Q9ESX5 1-509 view protein structure

Promoters
RGD ID:6845603
Promoter ID:MM_KWN:60873
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day1,   3T3L1_Day2,   3T3L1_Day3,   3T3L1_Day4,   3T3L1_Day6,   BoneMarrow_0Hour,   BoneMarrow_2Hour,   BoneMarrow_4Hour,   Brain,   ES_Cell,   Kidney,   Liver,   Lung,   MEF_B4,   MEF_B6,   Spleen
Transcripts:OTTMUST00000049145,   OTTMUST00000049146,   OTTMUST00000049147,   OTTMUST00000049148,   OTTMUST00000049149,   OTTMUST00000049150,   OTTMUST00000054353
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36X72,341,021 - 72,341,521 (+)MPROMDB
RGD ID:6845605
Promoter ID:MM_KWN:60875
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:BoneMarrow_0Hour,   BoneMarrow_4Hour
Transcripts:OTTMUST00000049153
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36X72,346,294 - 72,346,794 (+)MPROMDB
RGD ID:6845607
Promoter ID:MM_KWN:60876
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day1,   3T3L1_Day2,   3T3L1_Day3,   BoneMarrow_0Hour,   BoneMarrow_2Hour,   BoneMarrow_4Hour,   Brain,   Kidney,   Liver,   Lung,   MEF_B4,   MEF_B6
Transcripts:OTTMUST00000049154
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36X72,350,326 - 72,351,777 (+)MPROMDB
RGD ID:13680814
Promoter ID:EPDNEW_M24556
Type:multiple initiation site
Name:Dkc1_2
Description:Mus musculus dyskeratosis congenita 1, dyskerin , transcriptvariant 3, mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_M24557  
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38X75,095,911 - 75,095,971EPDNEW
RGD ID:13680816
Promoter ID:EPDNEW_M24557
Type:initiation region
Name:Dkc1_1
Description:Mus musculus dyskeratosis congenita 1, dyskerin , transcriptvariant 3, mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_M24556  
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38X75,096,069 - 75,096,129EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:1861727 AgrOrtholog
Ensembl Genes ENSMUSG00000031403 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENSMUST00000033776 ENTREZGENE
  ENSMUST00000033776.15 UniProtKB/Swiss-Prot
  ENSMUST00000131155.8 UniProtKB/TrEMBL
  ENSMUST00000132000.8 UniProtKB/TrEMBL
  ENSMUST00000140609.8 UniProtKB/TrEMBL
  ENSMUST00000153844.8 UniProtKB/TrEMBL
Gene3D-CATH 2.30.130.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pseudouridine synthase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro Dyskerin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PsdUridine_synth_cat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PsdUridine_synth_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PUA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PUA-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PUA_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  tRNA_PsdUridine_synth_B_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TruB_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Uncharacterised_CHP00451 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:245474 UniProtKB/Swiss-Prot
MGD MGI:1861727 ENTREZGENE
NCBI Gene 245474 ENTREZGENE
PANTHER H/ACA RIBONUCLEOPROTEIN COMPLEX SUBUNIT DKC1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR23127 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DKCLD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PUA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TruB_C_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TruB_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Dkc1 PhenoGen
PROSITE PUA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DKCLD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PUA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF55120 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF88697 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A2AN81_MOUSE UniProtKB/TrEMBL
  B7ZCL7_MOUSE UniProtKB/TrEMBL
  DKC1_MOUSE UniProtKB/Swiss-Prot
  F6S1S5_MOUSE UniProtKB/TrEMBL
  F6YUI5_MOUSE UniProtKB/TrEMBL
  Q3TI79 ENTREZGENE, UniProtKB/TrEMBL
  Q3TM67 ENTREZGENE, UniProtKB/TrEMBL
  Q3UWE5 ENTREZGENE
  Q9ESX5 ENTREZGENE
UniProt Secondary Q3UWE5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-07-31 Dkc1  dyskeratosis congenita 1, dyskerin  Dkc1  dyskeratosis congenita 1, dyskerin homolog (human)  Symbol and/or name change 5135510 APPROVED