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DKC1 cDNA ORF clone, Homo sapiens(Human)

Gene Symbol DKC1
Entrez Gene ID 1736
Full Name dyskerin pseudouridine synthase 1
Synonyms CBF5,DKC,DKCX,NAP57,NOLA4,XAP101
General protein information
Preferred Names

dyskerin pseudouridine synthase 1

Names

H/ACA ribonucleoprotein complex subunit 4
CBF5 homolog
dyskeratosis congenita 1, dyskerin
nopp140-associated protein of 57 kDa
nucleolar protein NAP57
nucleolar protein family A member 4
snoRNP protein DKC1

Gene Type protein-coding
Organism Homo sapiens(Human)
Genome

X

Xq28

Summary This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014].
Disorder MIM:

300126

Disorder Html: Dyskeratosis congenita-1, 305000 (3); Hoyeraal-Hreidarsson syndrome,

mRNA and Protein(s)

mRNA Protein Name
NM_001142463.2 NP_001135935.1 H/ACA ribonucleoprotein complex subunit 4 isoform 2
NM_001288747.1 NP_001275676.1 H/ACA ribonucleoprotein complex subunit 4 isoform 3
NM_001363.4 NP_001354.1 H/ACA ribonucleoprotein complex subunit 4 isoform 1



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
Macaca mulatta (rhesus monkey) DKC1 XP_001090867.2
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


Related articles in PubMed

A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
Hein MY, Hubner NC, Poser I, Cox J, Nagaraj N, Toyoda Y, Gak IA, Weisswange I, Mansfeld J, Buchholz F, Hyman AA, Mann M
Cell163(3)712-23(2015 Oct)

Late presentation of X-linked dyskeratosis congenita with a missense mutation in codon 350 of the dyskerin protein.
Mori N, Makino T, Mizawa M, Kagoyama K, Kanegane H, Sakaguchi H, Miyazono T, Kojima S, Shimizu T
European journal of dermatology : EJD25(1)75-6(2015 Jan-Feb)

Proteostatic control of telomerase function through TRiC-mediated folding of TCAB1.
Freund A, Zhong FL, Venteicher AS, Meng Z, Veenstra TD, Frydman J, Artandi SE
Cell159(6)1389-403(2014 Dec)

Detection of mutations in TERT, the genes for telomerase reverse transcriptase, in Indian patients of aplastic anaemia: a pilot study.
Mehta S, Krishnamohan M, Gulati S, Sharmat N, Vashishtha P, Singh I
The Journal of the Association of Physicians of India62(10)13-7(2014 Oct)

Intron retention: a human DKC1 gene common splicing event.
Turano M, Angrisani A, Di Maio N, Furia M
Biochemistry and cell biology = Biochimie et biologie cellulaire91(6)506-12(2013 Dec)

GeneRIFs: Gene References Into Functions What's a GeneRIF?

observed dyskerin expression, telomerase RNA accumulation, and pseudouridylation present in all DKC1 mutation carriers at levels comparable to healthy wild-type controls
Title: Investigation of chromosome X inactivation and clinical phenotypes in female carriers of DKC1 mutations.

dyskerin suppression caused p53-dependent G1 cell-cycle arrest in p53 wild-type cells, and a p53-independent pathway impaired proliferation in cells with p53 dysfunction.
Title: MYC-Driven Neuroblastomas Are Addicted to a Telomerase-Independent Function of Dyskerin.

Loss of dyskerin binding leads to telomerase RNA component degradation.
Title: Inhibition of telomerase RNA decay rescues telomerase deficiency caused by dyskerin or PARN defects.

A mutation in the DC gene 1 (DKC1) at Xq28 results in dysfunction of dyskerin, a protein that is involved in telomere maintenance and ribosomal biogenesis.
Title: Ocular Findings of Revesz Syndrome in a 12-Year-Old Girl.

Expression of GSE4 increased telomerase activity and reduced DNA damage, oxidative stress and cell senescence in dyskerin-mutated cells.
Title: GSE4, a Small Dyskerin- and GSE24.2-Related Peptide, Induces Telomerase Activity, Cell Proliferation and Reduces DNA Damage, Oxidative Stress and Cell Senescence in Dyskerin Mutant Cells.

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.

Online Only Promotion

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***CloneID RefSeq Accession Definition **Vector *Turnaround time Price (USD) Select
OHu23474
NM_001288747.1
Latest version!
Homo sapiens dyskerin pseudouridine synthase 1 (DKC1), transcript variant 3, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$159.50-$223.30
$319.00
OHu23856
NM_001363.4
Latest version!
Homo sapiens dyskerin pseudouridine synthase 1 (DKC1), transcript variant 1, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$189.50-$265.30
$379.00
OHu23916 NM_001142463.2
Latest version!
Homo sapiens dyskerin pseudouridine synthase 1 (DKC1), transcript variant 2, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 7-9 $300.30
$429.00

ORF Online Only Promotion

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2-4 Clone 40% OFF
5 or more Clone 50% OFF
All Other ORF Clones
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** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.


CloneID OHu23474
Clone ID Related Accession (Same CDS sequence) NM_001288747.1
Accession Version NM_001288747.1 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1263bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags COA
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 2016-02-20
Organism Homo sapiens(Human)
Product H/ACA ribonucleoprotein complex subunit 4 isoform 3
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from HY050100.1, BC009928.2, JF279874.1 and CD367400.1. Transcript Variant: This variant (3) uses an alternate 3' exon structure, which results in an early stop codon, compared to variant 1. The resulting protein (isoform 3) has a distinct C-terminus, compared to isoform 1 (PMID: 21820037). 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 :: JF279874.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## NMD candidate :: PMID: 21820037, 24219293 ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
ATGGCGGATG CGGAAGTAAT TATTTTGCCA AAGAAACATA AGAAGAAAAA GGAGCGGAAG 
TCATTGCCAG AAGAAGATGT AGCCGAAATA CAACACGCTG AAGAATTTCT TATCAAACCT
GAATCCAAAG TTGCTAAGTT GGACACGTCT CAGTGGCCCC TTTTGCTAAA GAATTTTGAT
AAGCTGAATG TAAGGACAAC ACACTATACA CCTCTTGCAT GTGGTTCAAA TCCTCTGAAG
AGAGAGATTG GGGACTATAT CAGGACAGGT TTCATTAATC TTGACAAGCC CTCTAACCCC
TCTTCCCATG AGGTGGTAGC CTGGATTCGA CGGATACTTC GGGTGGAGAA GACAGGGCAC
AGTGGTACTC TGGATCCCAA GGTGACTGGT TGTTTAATCG TGTGCATAGA ACGAGCCACT
CGCTTGGTGA AGTCACAACA GAGTGCAGGC AAAGAGTATG TGGGGATTGT CCGGCTGCAC
AATGCTATTG AAGGGGGGAC CCAGCTTTCT AGGGCCCTAG AAACTCTGAC AGGTGCCTTA
TTCCAGCGAC CCCCACTTAT TGCTGCAGTA AAGAGGCAGC TCCGAGTGAG GACCATCTAC
GAGAGCAAAA TGATTGAATA CGATCCTGAA AGAAGATTAG GAATCTTTTG GGTGAGTTGT
GAGGCTGGCA CCTACATTCG GACATTATGT GTGCACCTTG GTTTGTTATT GGGAGTTGGT
GGTCAGATGC AGGAGCTTCG GAGGGTTCGT TCTGGAGTCA TGAGTGAAAA GGACCACATG
GTGACAATGC ATGATGTGCT TGATGCTCAG TGGCTGTATG ATAACCACAA GGATGAGAGT
TACCTGCGGC GAGTTGTTTA CCCTTTGGAA AAGCTGTTGA CATCTCATAA ACGGCTGGTT
ATGAAAGACA GTGCAGTAAA TGCCATCTGC TATGGGGCCA AGATTATGCT TCCAGGTGTT
CTTCGATATG AGGACGGCAT TGAGGTCAAT CAGGAGATTG TGGTTATCAC CACCAAAGGA
GAAGCAATCT GCATGGCTAT TGCATTAATG ACCACAGCGG TCATCTCTAC CTGCGACCAT
GGTATAGTAG CCAAGATCAA GAGAGTGATC ATGGAGAGAG ACACTTACCC TCGGAAGTGG
GGTTTAGGTC CAAAGGCAAG TCAGAAGAAG CTGATGATCA AGCAGGGCCT TCTGGACAAG
CATGGGAAGC CCACAGACAG CACACCTGCC ACCTGGAAGC AGGAGTATGT TGACTACAGG
TGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_001275676.1
CDS225..1487
Misc Feature(1)228..287
Misc Feature(2)228..230
Misc Feature(3)285..287
Misc Feature(4)369..542
Misc Feature(5)390..1367
Misc Feature(6)486..1034
Misc Feature(7)order(588..599,903..905)
Misc Feature(8)1113..1334
Exon (1)1..240
Exon (2)241..308
Exon (3)309..395
Exon (4)396..487
Exon (5)488..672
Exon (6)673..737
Exon (7)738..864
Exon (8)865..995
Exon (9)996..1139
Exon (10)1140..1260
Exon (11)1261..1379
Exon (12)1380..2051
Exon (13)2052..2189
Exon (14)2190..3080
Translation

Target ORF information:

RefSeq Version NM_001288747.1
Organism Homo sapiens(Human)
Definition Homo sapiens dyskerin pseudouridine synthase 1 (DKC1), transcript variant 3, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_001288747.1

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
ATGGCGGATG CGGAAGTAAT TATTTTGCCA AAGAAACATA AGAAGAAAAA GGAGCGGAAG 
TCATTGCCAG AAGAAGATGT AGCCGAAATA CAACACGCTG AAGAATTTCT TATCAAACCT
GAATCCAAAG TTGCTAAGTT GGACACGTCT CAGTGGCCCC TTTTGCTAAA GAATTTTGAT
AAGCTGAATG TAAGGACAAC ACACTATACA CCTCTTGCAT GTGGTTCAAA TCCTCTGAAG
AGAGAGATTG GGGACTATAT CAGGACAGGT TTCATTAATC TTGACAAGCC CTCTAACCCC
TCTTCCCATG AGGTGGTAGC CTGGATTCGA CGGATACTTC GGGTGGAGAA GACAGGGCAC
AGTGGTACTC TGGATCCCAA GGTGACTGGT TGTTTAATCG TGTGCATAGA ACGAGCCACT
CGCTTGGTGA AGTCACAACA GAGTGCAGGC AAAGAGTATG TGGGGATTGT CCGGCTGCAC
AATGCTATTG AAGGGGGGAC CCAGCTTTCT AGGGCCCTAG AAACTCTGAC AGGTGCCTTA
TTCCAGCGAC CCCCACTTAT TGCTGCAGTA AAGAGGCAGC TCCGAGTGAG GACCATCTAC
GAGAGCAAAA TGATTGAATA CGATCCTGAA AGAAGATTAG GAATCTTTTG GGTGAGTTGT
GAGGCTGGCA CCTACATTCG GACATTATGT GTGCACCTTG GTTTGTTATT GGGAGTTGGT
GGTCAGATGC AGGAGCTTCG GAGGGTTCGT TCTGGAGTCA TGAGTGAAAA GGACCACATG
GTGACAATGC ATGATGTGCT TGATGCTCAG TGGCTGTATG ATAACCACAA GGATGAGAGT
TACCTGCGGC GAGTTGTTTA CCCTTTGGAA AAGCTGTTGA CATCTCATAA ACGGCTGGTT
ATGAAAGACA GTGCAGTAAA TGCCATCTGC TATGGGGCCA AGATTATGCT TCCAGGTGTT
CTTCGATATG AGGACGGCAT TGAGGTCAAT CAGGAGATTG TGGTTATCAC CACCAAAGGA
GAAGCAATCT GCATGGCTAT TGCATTAATG ACCACAGCGG TCATCTCTAC CTGCGACCAT
GGTATAGTAG CCAAGATCAA GAGAGTGATC ATGGAGAGAG ACACTTACCC TCGGAAGTGG
GGTTTAGGTC CAAAGGCAAG TCAGAAGAAG CTGATGATCA AGCAGGGCCT TCTGGACAAG
CATGGGAAGC CCACAGACAG CACACCTGCC ACCTGGAAGC AGGAGTATGT TGACTACAGG
TGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu23856
Clone ID Related Accession (Same CDS sequence) NM_001363.4
Accession Version NM_001363.4 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1545bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags COA
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 2016-02-20
Organism Homo sapiens(Human)
Product H/ACA ribonucleoprotein complex subunit 4 isoform 1
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from HY050100.1, BC009928.2, AK225077.1 and CD367400.1. On Jan 3, 2014 this sequence version replaced NM_001363.3. Transcript Variant: This variant (1) encodes the longest isoform (1). 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 :: BC009928.2, AF067008.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
ATGGCGGATG CGGAAGTAAT TATTTTGCCA AAGAAACATA AGAAGAAAAA GGAGCGGAAG 
TCATTGCCAG AAGAAGATGT AGCCGAAATA CAACACGCTG AAGAATTTCT TATCAAACCT
GAATCCAAAG TTGCTAAGTT GGACACGTCT CAGTGGCCCC TTTTGCTAAA GAATTTTGAT
AAGCTGAATG TAAGGACAAC ACACTATACA CCTCTTGCAT GTGGTTCAAA TCCTCTGAAG
AGAGAGATTG GGGACTATAT CAGGACAGGT TTCATTAATC TTGACAAGCC CTCTAACCCC
TCTTCCCATG AGGTGGTAGC CTGGATTCGA CGGATACTTC GGGTGGAGAA GACAGGGCAC
AGTGGTACTC TGGATCCCAA GGTGACTGGT TGTTTAATCG TGTGCATAGA ACGAGCCACT
CGCTTGGTGA AGTCACAACA GAGTGCAGGC AAAGAGTATG TGGGGATTGT CCGGCTGCAC
AATGCTATTG AAGGGGGGAC CCAGCTTTCT AGGGCCCTAG AAACTCTGAC AGGTGCCTTA
TTCCAGCGAC CCCCACTTAT TGCTGCAGTA AAGAGGCAGC TCCGAGTGAG GACCATCTAC
GAGAGCAAAA TGATTGAATA CGATCCTGAA AGAAGATTAG GAATCTTTTG GGTGAGTTGT
GAGGCTGGCA CCTACATTCG GACATTATGT GTGCACCTTG GTTTGTTATT GGGAGTTGGT
GGTCAGATGC AGGAGCTTCG GAGGGTTCGT TCTGGAGTCA TGAGTGAAAA GGACCACATG
GTGACAATGC ATGATGTGCT TGATGCTCAG TGGCTGTATG ATAACCACAA GGATGAGAGT
TACCTGCGGC GAGTTGTTTA CCCTTTGGAA AAGCTGTTGA CATCTCATAA ACGGCTGGTT
ATGAAAGACA GTGCAGTAAA TGCCATCTGC TATGGGGCCA AGATTATGCT TCCAGGTGTT
CTTCGATATG AGGACGGCAT TGAGGTCAAT CAGGAGATTG TGGTTATCAC CACCAAAGGA
GAAGCAATCT GCATGGCTAT TGCATTAATG ACCACAGCGG TCATCTCTAC CTGCGACCAT
GGTATAGTAG CCAAGATCAA GAGAGTGATC ATGGAGAGAG ACACTTACCC TCGGAAGTGG
GGTTTAGGTC CAAAGGCAAG TCAGAAGAAG CTGATGATCA AGCAGGGCCT TCTGGACAAG
CATGGGAAGC CCACAGACAG CACACCTGCC ACCTGGAAGC AGGAGTATGT TGACTACAGT
GAGTCTGCCA AAAAAGAGGT GGTTGCTGAA GTGGTAAAAG CCCCGCAGGT AGTTGCCGAA
GCAGCAAAAA CTGCGAAGCG GAAGCGAGAG AGTGAGAGTG AAAGTGACGA GACTCCTCCA
GCAGCTCCTC AGTTGATCAA GAAGGAAAAG AAGAAGAGTA AGAAGGACAA GAAGGCCAAA
GCTGGTCTGG AGAGCGGGGC CGAGCCTGGA GATGGGGACA GTGATACCAC CAAGAAGAAG
AAGAAGAAGA AGAAAGCAAA AGAGGTAGAA TTGGTTTCTG AGTAG

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_001354.1
CDS225..1769
Misc Feature(1)228..287
Misc Feature(2)228..230
Misc Feature(3)285..287
Misc Feature(4)285..287
Misc Feature(5)369..542
Misc Feature(6)390..1367
Misc Feature(7)486..1034
Misc Feature(8)order(588..599,903..905)
Misc Feature(9)1113..1334
Misc Feature(10)1560..1766
Misc Feature(11)1575..1577
Misc Feature(12)1575..1577
Misc Feature(13)1581..1583
Misc Feature(14)1581..1583
Misc Feature(15)1587..1589
Misc Feature(16)1587..1589
Misc Feature(17)1596..1598
Misc Feature(18)1596..1598
Misc Feature(19)1677..1679
Misc Feature(20)1704..1706
Misc Feature(21)1704..1706
Misc Feature(22)1704..1706
Misc Feature(23)1710..1712
Misc Feature(24)1713..1715
Misc Feature(25)1761..1763
Misc Feature(26)1761..1763
Exon (1)1..240
Exon (2)241..308
Exon (3)309..395
Exon (4)396..487
Exon (5)488..672
Exon (6)673..737
Exon (7)738..864
Exon (8)865..995
Exon (9)996..1139
Exon (10)1140..1260
Exon (11)1261..1379
Exon (12)1380..1483
Exon (13)1484..1562
Exon (14)1563..1700
Exon (15)1701..2591
Translation

Target ORF information:

RefSeq Version NM_001363.4
Organism Homo sapiens(Human)
Definition Homo sapiens dyskerin pseudouridine synthase 1 (DKC1), transcript variant 1, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_001363.4

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
ATGGCGGATG CGGAAGTAAT TATTTTGCCA AAGAAACATA AGAAGAAAAA GGAGCGGAAG 
TCATTGCCAG AAGAAGATGT AGCCGAAATA CAACACGCTG AAGAATTTCT TATCAAACCT
GAATCCAAAG TTGCTAAGTT GGACACGTCT CAGTGGCCCC TTTTGCTAAA GAATTTTGAT
AAGCTGAATG TAAGGACAAC ACACTATACA CCTCTTGCAT GTGGTTCAAA TCCTCTGAAG
AGAGAGATTG GGGACTATAT CAGGACAGGT TTCATTAATC TTGACAAGCC CTCTAACCCC
TCTTCCCATG AGGTGGTAGC CTGGATTCGA CGGATACTTC GGGTGGAGAA GACAGGGCAC
AGTGGTACTC TGGATCCCAA GGTGACTGGT TGTTTAATCG TGTGCATAGA ACGAGCCACT
CGCTTGGTGA AGTCACAACA GAGTGCAGGC AAAGAGTATG TGGGGATTGT CCGGCTGCAC
AATGCTATTG AAGGGGGGAC CCAGCTTTCT AGGGCCCTAG AAACTCTGAC AGGTGCCTTA
TTCCAGCGAC CCCCACTTAT TGCTGCAGTA AAGAGGCAGC TCCGAGTGAG GACCATCTAC
GAGAGCAAAA TGATTGAATA CGATCCTGAA AGAAGATTAG GAATCTTTTG GGTGAGTTGT
GAGGCTGGCA CCTACATTCG GACATTATGT GTGCACCTTG GTTTGTTATT GGGAGTTGGT
GGTCAGATGC AGGAGCTTCG GAGGGTTCGT TCTGGAGTCA TGAGTGAAAA GGACCACATG
GTGACAATGC ATGATGTGCT TGATGCTCAG TGGCTGTATG ATAACCACAA GGATGAGAGT
TACCTGCGGC GAGTTGTTTA CCCTTTGGAA AAGCTGTTGA CATCTCATAA ACGGCTGGTT
ATGAAAGACA GTGCAGTAAA TGCCATCTGC TATGGGGCCA AGATTATGCT TCCAGGTGTT
CTTCGATATG AGGACGGCAT TGAGGTCAAT CAGGAGATTG TGGTTATCAC CACCAAAGGA
GAAGCAATCT GCATGGCTAT TGCATTAATG ACCACAGCGG TCATCTCTAC CTGCGACCAT
GGTATAGTAG CCAAGATCAA GAGAGTGATC ATGGAGAGAG ACACTTACCC TCGGAAGTGG
GGTTTAGGTC CAAAGGCAAG TCAGAAGAAG CTGATGATCA AGCAGGGCCT TCTGGACAAG
CATGGGAAGC CCACAGACAG CACACCTGCC ACCTGGAAGC AGGAGTATGT TGACTACAGT
GAGTCTGCCA AAAAAGAGGT GGTTGCTGAA GTGGTAAAAG CCCCGCAGGT AGTTGCCGAA
GCAGCAAAAA CTGCGAAGCG GAAGCGAGAG AGTGAGAGTG AAAGTGACGA GACTCCTCCA
GCAGCTCCTC AGTTGATCAA GAAGGAAAAG AAGAAGAGTA AGAAGGACAA GAAGGCCAAA
GCTGGTCTGG AGAGCGGGGC CGAGCCTGGA GATGGGGACA GTGATACCAC CAAGAAGAAG
AAGAAGAAGA AGAAAGCAAA AGAGGTAGAA TTGGTTTCTG AGTAG

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu23916
Clone ID Related Accession (Same CDS sequence) NM_001142463.2
Accession Version NM_001142463.2 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1530bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 2016-02-20
Organism Homo sapiens(Human)
Product H/ACA ribonucleoprotein complex subunit 4 isoform 2
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from HY050100.1, BC009928.2, AK307672.1 and CD367400.1. On Jan 3, 2014 this sequence version replaced NM_001142463.1. Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The resulting isoform (2) is shorter than isoform 1. 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 :: AK307672.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
ATGGCGGATG CGGAAGTAAT TATTTTGCCA AAGAAACATA AGAAGAAAAA GGAGCGGAAG 
TCATTGCCAG AAGAAGATGT AGCCGAAATA CAACACGCTG AAGAATTTCT TATCAAACCT
GAATCCAAAG TTGCTAAGTT GGACACGTCT CAGTGGCCCC TTTTGCTAAA GAATTTTGAT
AAGCTGAATG TAAGGACAAC ACACTATACA CCTCTTGCAT GTGGTTCAAA TCCTCTGAAG
AGAGAGATTG GGGACTATAT CAGGACAGGT TTCATTAATC TTGACAAGCC CTCTAACCCC
TCTTCCCATG AGGTGGTAGC CTGGATTCGA CGGATACTTC GGGTGGAGAA GACAGGGCAC
AGTGGTACTC TGGATCCCAA GGTGACTGGT TGTTTAATCG TGTGCATAGA ACGAGCCACT
CGCTTGGTGA AGTCACAACA GAGTGCAGGC AAAGAGTATG TGGGGATTGT CCGGCTGCAC
AATGCTATTG AAGGGGGGAC CCAGCTTTCT AGGGCCCTAG AAACTCTGAC AGGTGCCTTA
TTCCAGCGAC CCCCACTTAT TGCTGCAGTA AAGAGGCAGC TCCGAGTGAG GACCATCTAC
GAGAGCAAAA TGATTGAATA CGATCCTGAA AGAAGATTAG GAATCTTTTG GGTGAGTTGT
GAGGCTGGCA CCTACATTCG GACATTATGT GTGCACCTTG GTTTGTTATT GGGAGTTGGT
GGTCAGATGC AGGAGCTTCG GAGGGTTCGT TCTGGAGTCA TGAGTGAAAA GGACCACATG
GTGACAATGC ATGATGTGCT TGATGCTCAG TGGCTGTATG ATAACCACAA GGATGAGAGT
TACCTGCGGC GAGTTGTTTA CCCTTTGGAA AAGCTGTTGA CATCTCATAA ACGGCTGGTT
ATGAAAGACA GTGCAGTAAA TGCCATCTGC TATGGGGCCA AGATTATGCT TCCAGGTGTT
CTTCGATATG AGGACGGCAT TGAGGTCAAT CAGGAGATTG TGGTTATCAC CACCAAAGGA
GAAGCAATCT GCATGGCTAT TGCATTAATG ACCACAGCGG TCATCTCTAC CTGCGACCAT
GGTATAGTAG CCAAGATCAA GAGAGTGATC ATGGAGAGAG ACACTTACCC TCGGAAGTGG
GGTTTAGGTC CAAAGGCAAG TCAGAAGAAG CTGATGATCA AGCAGGGCCT TCTGGACAAG
CATGGGAAGC CCACAGACAG CACACCTGCC ACCTGGAAGC AGGATGAGTC TGCCAAAAAA
GAGGTGGTTG CTGAAGTGGT AAAAGCCCCG CAGGTAGTTG CCGAAGCAGC AAAAACTGCG
AAGCGGAAGC GAGAGAGTGA GAGTGAAAGT GACGAGACTC CTCCAGCAGC TCCTCAGTTG
ATCAAGAAGG AAAAGAAGAA GAGTAAGAAG GACAAGAAGG CCAAAGCTGG TCTGGAGAGC
GGGGCCGAGC CTGGAGATGG GGACAGTGAT ACCACCAAGA AGAAGAAGAA GAAGAAGAAA
GCAAAAGAGG TAGAATTGGT TTCTGAGTAG

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_001135935.1
CDS225..1754
Misc Feature(1)228..287
Misc Feature(2)228..230
Misc Feature(3)285..287
Misc Feature(4)369..542
Misc Feature(5)390..1367
Misc Feature(6)486..1034
Misc Feature(7)order(588..599,903..905)
Misc Feature(8)1113..1334
Misc Feature(9)1545..1751
Misc Feature(10)1560..1562
Misc Feature(11)1566..1568
Misc Feature(12)1572..1574
Misc Feature(13)1581..1583
Misc Feature(14)1662..1664
Misc Feature(15)1689..1691
Misc Feature(16)1746..1748
Exon (1)1..240
Exon (2)241..308
Exon (3)309..395
Exon (4)396..487
Exon (5)488..672
Exon (6)673..737
Exon (7)738..864
Exon (8)865..995
Exon (9)996..1139
Exon (10)1140..1260
Exon (11)1261..1379
Exon (12)1380..1468
Exon (13)1469..1547
Exon (14)1548..1685
Exon (15)1686..2576
Translation

Target ORF information:

RefSeq Version NM_001142463.2
Organism Homo sapiens(Human)
Definition Homo sapiens dyskerin pseudouridine synthase 1 (DKC1), transcript variant 2, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_001142463.2

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
ATGGCGGATG CGGAAGTAAT TATTTTGCCA AAGAAACATA AGAAGAAAAA GGAGCGGAAG 
TCATTGCCAG AAGAAGATGT AGCCGAAATA CAACACGCTG AAGAATTTCT TATCAAACCT
GAATCCAAAG TTGCTAAGTT GGACACGTCT CAGTGGCCCC TTTTGCTAAA GAATTTTGAT
AAGCTGAATG TAAGGACAAC ACACTATACA CCTCTTGCAT GTGGTTCAAA TCCTCTGAAG
AGAGAGATTG GGGACTATAT CAGGACAGGT TTCATTAATC TTGACAAGCC CTCTAACCCC
TCTTCCCATG AGGTGGTAGC CTGGATTCGA CGGATACTTC GGGTGGAGAA GACAGGGCAC
AGTGGTACTC TGGATCCCAA GGTGACTGGT TGTTTAATCG TGTGCATAGA ACGAGCCACT
CGCTTGGTGA AGTCACAACA GAGTGCAGGC AAAGAGTATG TGGGGATTGT CCGGCTGCAC
AATGCTATTG AAGGGGGGAC CCAGCTTTCT AGGGCCCTAG AAACTCTGAC AGGTGCCTTA
TTCCAGCGAC CCCCACTTAT TGCTGCAGTA AAGAGGCAGC TCCGAGTGAG GACCATCTAC
GAGAGCAAAA TGATTGAATA CGATCCTGAA AGAAGATTAG GAATCTTTTG GGTGAGTTGT
GAGGCTGGCA CCTACATTCG GACATTATGT GTGCACCTTG GTTTGTTATT GGGAGTTGGT
GGTCAGATGC AGGAGCTTCG GAGGGTTCGT TCTGGAGTCA TGAGTGAAAA GGACCACATG
GTGACAATGC ATGATGTGCT TGATGCTCAG TGGCTGTATG ATAACCACAA GGATGAGAGT
TACCTGCGGC GAGTTGTTTA CCCTTTGGAA AAGCTGTTGA CATCTCATAA ACGGCTGGTT
ATGAAAGACA GTGCAGTAAA TGCCATCTGC TATGGGGCCA AGATTATGCT TCCAGGTGTT
CTTCGATATG AGGACGGCAT TGAGGTCAAT CAGGAGATTG TGGTTATCAC CACCAAAGGA
GAAGCAATCT GCATGGCTAT TGCATTAATG ACCACAGCGG TCATCTCTAC CTGCGACCAT
GGTATAGTAG CCAAGATCAA GAGAGTGATC ATGGAGAGAG ACACTTACCC TCGGAAGTGG
GGTTTAGGTC CAAAGGCAAG TCAGAAGAAG CTGATGATCA AGCAGGGCCT TCTGGACAAG
CATGGGAAGC CCACAGACAG CACACCTGCC ACCTGGAAGC AGGATGAGTC TGCCAAAAAA
GAGGTGGTTG CTGAAGTGGT AAAAGCCCCG CAGGTAGTTG CCGAAGCAGC AAAAACTGCG
AAGCGGAAGC GAGAGAGTGA GAGTGAAAGT GACGAGACTC CTCCAGCAGC TCCTCAGTTG
ATCAAGAAGG AAAAGAAGAA GAGTAAGAAG GACAAGAAGG CCAAAGCTGG TCTGGAGAGC
GGGGCCGAGC CTGGAGATGG GGACAGTGAT ACCACCAAGA AGAAGAAGAA GAAGAAGAAA
GCAAAAGAGG TAGAATTGGT TTCTGAGTAG

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

book

A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
Cell163(3)712-23(2015 Oct)
Hein MY,Hubner NC,Poser I,Cox J,Nagaraj N,Toyoda Y,Gak IA,Weisswange I,Mansfeld J,Buchholz F,Hyman AA,Mann M


book

Late presentation of X-linked dyskeratosis congenita with a missense mutation in codon 350 of the dyskerin protein.
European journal of dermatology : EJD25(1)75-6(2015 Jan-Feb)
Mori N,Makino T,Mizawa M,Kagoyama K,Kanegane H,Sakaguchi H,Miyazono T,Kojima S,Shimizu T


book

Proteostatic control of telomerase function through TRiC-mediated folding of TCAB1.
Cell159(6)1389-403(2014 Dec)
Freund A,Zhong FL,Venteicher AS,Meng Z,Veenstra TD,Frydman J,Artandi SE


book

Detection of mutations in TERT, the genes for telomerase reverse transcriptase, in Indian patients of aplastic anaemia: a pilot study.
The Journal of the Association of Physicians of India62(10)13-7(2014 Oct)
Mehta S,Krishnamohan M,Gulati S,Sharmat N,Vashishtha P,Singh I


book

Intron retention: a human DKC1 gene common splicing event.
Biochemistry and cell biology = Biochimie et biologie cellulaire91(6)506-12(2013 Dec)
Turano M,Angrisani A,Di Maio N,Furia M


 
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