Gene Symbol | Dkc1 |
Entrez Gene ID | 245474 |
Full Name | dyskeratosis congenita 1, dyskerin |
Synonyms | BC068171 |
General protein information |
|
Gene Type | protein-coding |
Organism | Mus musculus(house mouse) |
Genome |
ORF » Species Summary » Mus musculus » Dkc1 cDNA ORF clone
gRNAs
Gene Symbol | Dkc1 |
Entrez Gene ID | 245474 |
Full Name | dyskeratosis congenita 1, dyskerin |
Synonyms | BC068171 |
General protein information |
|
Gene Type | protein-coding |
Organism | Mus musculus(house mouse) |
Genome |
mRNA | Protein | Name |
---|---|---|
NM_001359412.1 | NP_001346341.1 | H/ACA ribonucleoprotein complex subunit DKC1 isoform 2 |
XM_030251338.1 | XP_030107198.1 | H/ACA ribonucleoprotein complex subunit DKC1 isoform X1 |
NM_001359411.1 | NP_001346340.1 | H/ACA ribonucleoprotein complex subunit DKC1 isoform 1 |
NM_001030307.2 | NP_001025478.1 | H/ACA ribonucleoprotein complex subunit DKC1 isoform 3 |
XM_006528023.3 | XP_006528086.1 | H/ACA ribonucleoprotein complex subunit 4 isoform X1 |
XM_017318488.1 | XP_017173977.1 | H/ACA ribonucleoprotein complex subunit 4 isoform X2 |
NM_001359413.1 | NP_001346342.1 | H/ACA ribonucleoprotein complex subunit DKC1 isoform 4 |
DKC1 | XP_001090867.2 | |
Mus musculus (house mouse) | Dkc1 | NP_001025478.1 |
Gallus gallus (chicken) | DKC1 | NP_001026286.1 |
Caenorhabditis elegans (roundworm) | K01G5.5 | NP_499370.1 |
Magnaporthe oryzae (rice blast fungus) | MGG_07518 | XP_003711432.1 |
Oryza sativa (rice) | Os07g0636000 | NP_001060391.1 |
Rattus norvegicus (Norway rat) | Dkc1 | NP_596910.1 |
Drosophila melanogaster (fruit fly) | Nop60B | NP_001163289.1 |
Anopheles gambiae (African malaria mosquito) | AgaP_AGAP004739 | XP_318082.4 |
Kluyveromyces lactis | KLLA0D04796g | XP_453273.1 |
Eremothecium gossypii | AGOS_AAL007C | NP_982535.1 |
Pan troglodytes (chimpanzee) | DKC1 | XP_521345.3 |
Bos taurus (cattle) | DKC1 | NP_001098865.1 |
Saccharomyces cerevisiae (baker's yeast) | CBF5 | NP_013276.1 |
Neurospora crassa | NCU01290 | XP_960827.1 |
Arabidopsis thaliana (thale cress) | NAP57 | NP_191274.1 |
Xenopus tropicalis (tropical clawed frog) | dkc1 | XP_004916830.1 |
Canis lupus familiaris (dog) | DKC1 | XP_549382.2 |
Danio rerio (zebrafish) | dkc1 | NP_001028279.2 |
Schizosaccharomyces pombe (fission yeast) | cbf5 | NP_594878.1 |
Oryza sativa (rice) | Os03g0370500 | NP_001050199.1 |
Homo sapiens (human) | DKC1 | NP_001354.1 |
Slow growth and unstable ribosomal RNA lacking pseudouridine in mouse embryonic fibroblast cells expressing catalytically inactive dyskerin.
Gu BW, Ge J, Fan JM, Bessler M, Mason PJ
FEBS letters587(14)2112-7(2013 Jul)
HOT1 is a mammalian direct telomere repeat-binding protein contributing to telomerase recruitment.
Kappei D, Butter F, Benda C, Scheibe M, Dra?kovi? I, Stevense M, Novo CL, Basquin C, Araki M, Araki K, Krastev DB, Kittler R, Jessberger R, Londo?o-Vallejo JA, Mann M, Buchholz F
The EMBO journal32(12)1681-701(2013 Jun)
Defects in mTR stability and telomerase activity produced by the Dkc1 A353V mutation in dyskeratosis congenita are rescued by a peptide from the dyskerin TruB domain.
Machado-Pinilla R, Carrillo J, Manguan-Garcia C, Sastre L, Mentzer A, Gu BW, Mason PJ, Perona R
Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico14(10)755-63(2012 Oct)
The genetics of dyskeratosis congenita.
Mason PJ, Bessler M
Cancer genetics204(12)635-45(2011 Dec)
Dyskeratosis congenita.
Dokal I
Hematology. American Society of Hematology. Education Program2011480-6(2011)
GeneRIFs: Gene References Into Functions What's a GeneRIF?
Mouse embryonic fibroblasts cells with no pseudouridylation activity in H/ACA snoRNPs due to lack of Dkc1, can produce mature ribosomes, however, the ribosomes are very unstable and cell growth and division is very slow.
Title: Slow growth and unstable ribosomal RNA lacking pseudouridine in mouse embryonic fibroblast cells expressing catalytically inactive dyskerin.
mTR stability and telomerase activity produced by the Dkc1 A353V mutation in dyskeratosis congenita are rescued by a peptide from the dyskerin TruB domain.
Title: Defects in mTR stability and telomerase activity produced by the Dkc1 A353V mutation in dyskeratosis congenita are rescued by a peptide from the dyskerin TruB domain.
A mouse small nucleolar snoRNA microarray was used to monitor changes in abundance of snoRNAs after ablation of dyskerin, an H/ACA snoRNA protein component, from mouse liver, which causes a decrease in ribosome production.
Title: SnoRNA microarray analysis reveals changes in H/ACA and C/D RNA levels caused by dyskerin ablation in mouse liver.
hepatocytes can survive without dyskerin but the role of dyskerin in RNA modification is essential for cellular proliferation.
Title: Dyskerin ablation in mouse liver inhibits rRNA processing and cell division.
dyskerin mutations cause slow growth independently of telomere shortening and this slow growth is the result of the induction of DNA damage. Thus, dyskerin interacts with telomerase and affects telomere maintenance independently of telomere length.
Title: A pathogenic dyskerin mutation impairs proliferation and activates a DNA damage response independent of telomere length in mice.
The following Dkc1 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the Dkc1 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.
CloneID | OMu16007 | |
Clone ID Related Accession (Same CDS sequence) | NM_001030307.2 | |
Accession Version | NM_001030307.2 Latest version! | Documents for ORF clone product in default vector |
Sequence Information | ORF Nucleotide Sequence (Length: 1530bp) Protein sequence SNP |
|
Vector | pcDNA3.1-C-(k)DYK or customized vector | ![]() |
Clone information | Clone Map | ![]() |
Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
ORF Insert Method | CloneEZ™ Seamless cloning technology | |
Insert Structure | linear | |
Update Date | 2019-09-21 | |
Organism | Mus musculus(house mouse) | |
Product | H/ACA ribonucleoprotein complex subunit DKC1 isoform 3 | |
Comment | Comment: VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BY126448.1, AK136418.1 and AL808110.7. On Oct 31, 2009 this sequence version replaced NM_001030307.1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK136418.1, AK167973.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849380, SAMN00849384 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. |
1 | ATGGCGGATG CAGAAGTAAT TACATTCCCA AAGAAGCATA AGAAGAAAAA AGACCGGAAG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeq | NP_001025478.1 |
CDS | 259..1788 |
Translation |
Target ORF information:
Target ORF information:
|
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1 | ATGGCGGATG CAGAAGTAAT TACATTCCCA AAGAAGCATA AGAAGAAAAA AGACCGGAAG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
CloneID | OMu56265 | |
Clone ID Related Accession (Same CDS sequence) | NM_001359411.1 , XM_006528023.3 | |
Accession Version | NM_001359411.1 Latest version! | Documents for ORF clone product in default vector |
Sequence Information | ORF Nucleotide Sequence (Length: 1605bp) Protein sequence SNP |
|
Vector | pcDNA3.1-C-(k)DYK or customized vector | ![]() |
Clone information | Clone Map | ![]() |
Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
ORF Insert Method | CloneEZ™ Seamless cloning technology | |
Insert Structure | linear | |
Update Date | 2019-09-25 | |
Organism | Mus musculus(house mouse) | |
Product | H/ACA ribonucleoprotein complex subunit DKC1 isoform 1 | |
Comment | Comment: VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL808110.7. On Jan 4, 2018 this sequence version replaced XM_006528023.3. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660815.104478.1, SRR1660817.101240.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849380, SAMN00849385 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. |
1 | ATGCAGAAGC CACGTGGAGA ACCCGAAGGG AAGCCAACAC GTGCTAGAGT CATTTACCAG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeq | NP_001346340.1 |
CDS | 266..1870 |
Translation |
Target ORF information:
Target ORF information:
|
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1 | ATGCAGAAGC CACGTGGAGA ACCCGAAGGG AAGCCAACAC GTGCTAGAGT CATTTACCAG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
CloneID | OMu56265 | |
Clone ID Related Accession (Same CDS sequence) | NM_001359411.1 , XM_006528023.3 | |
Accession Version | XM_006528023.3 Latest version! | Documents for ORF clone product in default vector |
Sequence Information | ORF Nucleotide Sequence (Length: 1605bp) Protein sequence SNP |
|
Vector | pcDNA3.1-C-(k)DYK or customized vector | ![]() |
Clone information | Clone Map | ![]() |
Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
ORF Insert Method | CloneEZ™ Seamless cloning technology | |
Insert Structure | linear | |
Update Date | 2016-06-21 | |
Organism | Mus musculus(House mouse) | |
Product | H/ACA ribonucleoprotein complex subunit 4 isoform X1 | |
Comment | MODEL REFSEQ: This record is predicted by automated computational analysis. This record is derived from a genomic sequence (NC_000086.7) annotated using gene prediction method: Gnomon, supported by EST evidence. Also see: Documentation of NCBI's Annotation Process On Jun 22, 2016 this sequence version replaced XM_006528023.2. ##Genome-Annotation-Data-START## Annotation Provider :: NCBI Annotation Status :: Full annotation Annotation Version :: Mus musculus Annotation Release 106 Annotation Pipeline :: NCBI eukaryotic genome annotation pipeline Annotation Software Version :: 7.1 Annotation Method :: Best-placed RefSeq; Gnomon Features Annotated :: Gene; mRNA; CDS; ncRNA ##Genome-Annotation-Data-END## |
1 | ATGCAGAAGC CACGTGGAGA ACCCGAAGGG AAGCCAACAC GTGCTAGAGT CATTTACCAG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeq | XP_006528086.1 |
CDS | 236..1840 |
Translation |
Target ORF information:
Target ORF information:
|
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1 | ATGCAGAAGC CACGTGGAGA ACCCGAAGGG AAGCCAACAC GTGCTAGAGT CATTTACCAG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
CloneID | OMu83120 | |
Clone ID Related Accession (Same CDS sequence) | XM_017318488.1 , NM_001359413.1 | |
Accession Version | NM_001359413.1 Latest version! | Documents for ORF clone product in default vector |
Sequence Information | ORF Nucleotide Sequence (Length: 921bp) Protein sequence SNP |
|
Vector | pcDNA3.1-C-(k)DYK or customized vector | ![]() |
Clone information | Clone Map | ![]() |
Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
ORF Insert Method | CloneEZ™ Seamless cloning technology | |
Insert Structure | linear | |
Update Date | 2019-09-25 | |
Organism | Mus musculus(house mouse) | |
Product | H/ACA ribonucleoprotein complex subunit DKC1 isoform 4 | |
Comment | Comment: VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL808110.7. On Jan 4, 2018 this sequence version replaced XM_017318488.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660815.109691.1, SRR1660817.157420.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164132 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. |
1 | ATGATAGAAT ATGATCCTGA GAGAAGATTA GGAATCTTTT GGGTAAGCTG TGAAGCTGGC |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeq | NP_001346342.1 |
CDS | 995..1915 |
Translation |
Target ORF information:
Target ORF information:
|
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1 | ATGATAGAAT ATGATCCTGA GAGAAGATTA GGAATCTTTT GGGTAAGCTG TGAAGCTGGC |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
CloneID | OMu83120 | |
Clone ID Related Accession (Same CDS sequence) | XM_017318488.1 , NM_001359413.1 | |
Accession Version | XM_017318488.1 Latest version! | Documents for ORF clone product in default vector |
Sequence Information | ORF Nucleotide Sequence (Length: 921bp) Protein sequence SNP |
|
Vector | pcDNA3.1-C-(k)DYK or customized vector | ![]() |
Clone information | Clone Map | ![]() |
Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
ORF Insert Method | CloneEZ™ Seamless cloning technology | |
Insert Structure | linear | |
Update Date | 2016-06-21 | |
Organism | Mus musculus(House mouse) | |
Product | H/ACA ribonucleoprotein complex subunit 4 isoform X2 | |
Comment | MODEL REFSEQ: This record is predicted by automated computational analysis. This record is derived from a genomic sequence (NC_000086.7) annotated using gene prediction method: Gnomon, supported by EST evidence. Also see: Documentation of NCBI's Annotation Process ##Genome-Annotation-Data-START## Annotation Provider :: NCBI Annotation Status :: Full annotation Annotation Version :: Mus musculus Annotation Release 106 Annotation Pipeline :: NCBI eukaryotic genome annotation pipeline Annotation Software Version :: 7.1 Annotation Method :: Best-placed RefSeq; Gnomon Features Annotated :: Gene; mRNA; CDS; ncRNA ##Genome-Annotation-Data-END## |
1 | ATGATAGAAT ATGATCCTGA GAGAAGATTA GGAATCTTTT GGGTAAGCTG TGAAGCTGGC |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeq | XP_017173977.1 |
CDS | 939..1859 |
Translation |
Target ORF information:
Target ORF information:
|
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1 | ATGATAGAAT ATGATCCTGA GAGAAGATTA GGAATCTTTT GGGTAAGCTG TGAAGCTGGC |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
CloneID | OMu90396 | |
Clone ID Related Accession (Same CDS sequence) | XM_030251338.1 | |
Accession Version | XM_030251338.1 Latest version! | Documents for ORF clone product in default vector |
Sequence Information | ORF Nucleotide Sequence (Length: 1263bp) Protein sequence SNP |
|
Vector | pcDNA3.1-C-(k)DYK or customized vector | ![]() |
Clone information | Clone Map | ![]() |
Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
ORF Insert Method | CloneEZ™ Seamless cloning technology | |
Insert Structure | linear | |
Update Date | 2019-08-07 | |
Organism | Mus musculus(house mouse) | |
Product | H/ACA ribonucleoprotein complex subunit DKC1 isoform X1 | |
Comment | Comment: MODEL REFSEQ: This record is predicted by automated computational analysis. This record is derived from a genomic sequence (NC_000086.7) annotated using gene prediction method: Gnomon, supported by EST evidence. Also see: Documentation of NCBI's Annotation Process ##Genome-Annotation-Data-START## Annotation Provider :: NCBI Annotation Status :: Full annotation Annotation Name :: Mus musculus Annotation Release 108 Annotation Version :: 108 Annotation Pipeline :: NCBI eukaryotic genome annotation pipeline Annotation Software Version :: 8.2 Annotation Method :: Best-placed RefSeq; Gnomon Features Annotated :: Gene; mRNA; CDS; ncRNA ##Genome-Annotation-Data-END## |
1 | ATGGCGGATG CAGAAGTAAT TACATTCCCA AAGAAGCATA AGAAGAAAAA AGACCGGAAG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeq | XP_030107198.1 |
CDS | 259..1521 |
Translation |
Target ORF information:
Target ORF information:
|
![]() |
1 | ATGGCGGATG CAGAAGTAAT TACATTCCCA AAGAAGCATA AGAAGAAAAA AGACCGGAAG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
CloneID | OMu83603 | |
Clone ID Related Accession (Same CDS sequence) | NM_001359412.1 | |
Accession Version | NM_001359412.1 Latest version! | Documents for ORF clone product in default vector |
Sequence Information | ORF Nucleotide Sequence (Length: 1578bp) Protein sequence SNP |
|
Vector | pcDNA3.1-C-(k)DYK or customized vector | ![]() |
Clone information | Clone Map | ![]() |
Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
ORF Insert Method | CloneEZ™ Seamless cloning technology | |
Insert Structure | linear | |
Update Date | 2019-09-25 | |
Organism | Mus musculus(house mouse) | |
Product | H/ACA ribonucleoprotein complex subunit DKC1 isoform 2 | |
Comment | Comment: VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL808110.7. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR6116558.172625.1, SRR7345562.4192132.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849385, SAMN00849388 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. |
1 | ATGGCGGATG CAGAAGTAAT TACATTCCCA AAGAAGCATA AGAAGAAAAA AGACCGGAAG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeq | NP_001346341.1 |
CDS | 259..1836 |
Translation |
Target ORF information:
Target ORF information:
|
![]() |
1 | ATGGCGGATG CAGAAGTAAT TACATTCCCA AAGAAGCATA AGAAGAAAAA AGACCGGAAG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
Slow growth and unstable ribosomal RNA lacking pseudouridine in mouse embryonic fibroblast cells expressing catalytically inactive dyskerin. |
HOT1 is a mammalian direct telomere repeat-binding protein contributing to telomerase recruitment. |
Defects in mTR stability and telomerase activity produced by the Dkc1 A353V mutation in dyskeratosis congenita are rescued by a peptide from the dyskerin TruB domain. |
The genetics of dyskeratosis congenita. |
Dyskeratosis congenita. |