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DKC1 cDNA ORF clone, Homo sapiens (human)

Gene Symbol DKC1
Entrez Gene ID 1736
Full Name dyskeratosis congenita 1, dyskerin
Synonyms CBF5, DKC, DKCX, NAP57, NOLA4, XAP101
General protein information
Preferred Names
H/ACA ribonucleoprotein complex subunit 4
Names
H/ACA ribonucleoprotein complex subunit 4
CBF5 homolog
cbf5p homolog
snoRNP protein DKC1
nucleolar protein NAP57
nucleolar protein family A member 4
nopp140-associated protein of 57 kDa
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]. lac of sum
Disorder MIM:

300126

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

mRNA and Protein(s)

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



Homo sapiens (human) DKC1 NP_001354.1
Pan troglodytes (chimpanzee) DKC1 XP_521345.3
Macaca mulatta (Rhesus monkey) DKC1 XP_001090867.2
Canis lupus familiaris (dog) DKC1 XP_549382.2
Bos taurus (cattle) DKC1 NP_001098865.1
Mus musculus (house mouse) Dkc1 NP_001025478.1
Rattus norvegicus (Norway rat) Dkc1 NP_596910.1
Gallus gallus (chicken) DKC1 NP_001026286.1
Danio rerio (zebrafish) dkc1 NP_001028279.2
Drosophila melanogaster (fruit fly) Nop60B NP_001163289.1
Caenorhabditis elegans K01G5.5 NP_499370.1
Arabidopsis thaliana (thale cress) NAP57 NP_191274.1
Xenopus (Silurana) tropicalis (western clawed frog) dkc1 XP_004916830.1


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

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 RefSeq Accession Definition **Vector *Turnaround time Price Select
OHu23856
NM_001363 Homo sapiens dyskeratosis congenita 1, dyskerin (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 Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 2, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 7-9 $300.30
$429.00
OHu23474
NM_001288747 Homo sapiens dyskeratosis congenita 1, dyskerin (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
Next-day Shipping ORF Clones ( in default vector with tag)
1 Clone 30% OFF
2-4 Clone 40% OFF
5 or more Clone 50% OFF
All Other ORF Clones
30% OFF

*Business Day

** 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 OHu23856
Clone ID Related Accession (Same CDS sequence) NM_001363
Accession Version NM_001363.4 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
Structure linear
Update Date 15-MAR-2015
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 gi:215598984. 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)366..542(+)
Misc Feature(6)390..1367(+)
Misc Feature(7)486..1034(+)
Misc Feature(8)588..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)1677..1679(+)
Misc Feature(19)1704..1706(+)
Misc Feature(20)1704..1706(+)
Misc Feature(21)1704..1706(+)
Misc Feature(22)1710..1712(+)
Misc Feature(23)1713..1715(+)
Misc Feature(24)1761..1763(+)
Misc Feature(25)1761..1763(+)
Exon (1)1..240
Gene:DKC1
Gene Synonym:
Exon (2)241..308
Gene:DKC1
Gene Synonym:
Exon (3)309..395
Gene:DKC1
Gene Synonym:
Exon (4)396..487
Gene:DKC1
Gene Synonym:
Exon (5)488..672
Gene:DKC1
Gene Synonym:
Exon (6)673..737
Gene:DKC1
Gene Synonym:
Exon (7)738..864
Gene:DKC1
Gene Synonym:
Exon (8)865..995
Gene:DKC1
Gene Synonym:
Exon (9)996..1139
Gene:DKC1
Gene Synonym:
Exon (10)1140..1260
Gene:DKC1
Gene Synonym:
Exon (11)1261..1379
Gene:DKC1
Gene Synonym:
Exon (12)1380..1483
Gene:DKC1
Gene Synonym:
Exon (13)1484..1562
Gene:DKC1
Gene Synonym:
Exon (14)1563..1700
Gene:DKC1
Gene Synonym:
Exon (15)1701..2591
Gene:DKC1
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_001363
Organism Homo sapiens (human)
Definition Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA.

Target ORF information:

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

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
Accession Version NM_001142463.2 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
Structure linear
Update Date 15-MAR-2015
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 gi:215599014. 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)366..542(+)
Misc Feature(5)390..1367(+)
Misc Feature(6)486..1034(+)
Misc Feature(7)588..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)1662..1664(+)
Misc Feature(14)1689..1691(+)
Misc Feature(15)1746..1748(+)
Exon (1)1..240
Gene:DKC1
Gene Synonym:
Exon (2)241..308
Gene:DKC1
Gene Synonym:
Exon (3)309..395
Gene:DKC1
Gene Synonym:
Exon (4)396..487
Gene:DKC1
Gene Synonym:
Exon (5)488..672
Gene:DKC1
Gene Synonym:
Exon (6)673..737
Gene:DKC1
Gene Synonym:
Exon (7)738..864
Gene:DKC1
Gene Synonym:
Exon (8)865..995
Gene:DKC1
Gene Synonym:
Exon (9)996..1139
Gene:DKC1
Gene Synonym:
Exon (10)1140..1260
Gene:DKC1
Gene Synonym:
Exon (11)1261..1379
Gene:DKC1
Gene Synonym:
Exon (12)1380..1468
Gene:DKC1
Gene Synonym:
Exon (13)1469..1547
Gene:DKC1
Gene Synonym:
Exon (14)1548..1685
Gene:DKC1
Gene Synonym:
Exon (15)1686..2576
Gene:DKC1
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_001142463
Organism Homo sapiens (human)
Definition Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 2, mRNA.

Target ORF information:

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

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.

CloneID OHu23474
Clone ID Related Accession (Same CDS sequence) NM_001288747
Accession Version NM_001288747.1 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
Structure linear
Update Date 15-MAR-2015
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. ##RefSeq-Attributes-START## NMD candidate :: PMID: 21820037, 24219293 ##RefSeq-Attributes-END## ##Evidence-Data-START## Transcript exon combination :: JF279874.1 [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
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)366..542(+)
Misc Feature(5)390..1367(+)
Misc Feature(6)486..1034(+)
Misc Feature(7)588..905(+)
Misc Feature(8)1113..1334(+)
Exon (1)1..240
Gene:DKC1
Gene Synonym:
Exon (2)241..308
Gene:DKC1
Gene Synonym:
Exon (3)309..395
Gene:DKC1
Gene Synonym:
Exon (4)396..487
Gene:DKC1
Gene Synonym:
Exon (5)488..672
Gene:DKC1
Gene Synonym:
Exon (6)673..737
Gene:DKC1
Gene Synonym:
Exon (7)738..864
Gene:DKC1
Gene Synonym:
Exon (8)865..995
Gene:DKC1
Gene Synonym:
Exon (9)996..1139
Gene:DKC1
Gene Synonym:
Exon (10)1140..1260
Gene:DKC1
Gene Synonym:
Exon (11)1261..1379
Gene:DKC1
Gene Synonym:
Exon (12)1380..2051
Gene:DKC1
Gene Synonym:
Exon (13)2052..2189
Gene:DKC1
Gene Synonym:
Exon (14)2190..3080
Gene:DKC1
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_001288747
Organism Homo sapiens (human)
Definition Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 3, mRNA.

Target ORF information:

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

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.

book

Intron retention: a human DKC1 gene common splicing event
Biochem. Cell Biol. 91 (6), 506-512 (2013)
Turano M, Angrisani A, Di Maio N and Furia M.


book

Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene
Hum. Mutat. 34 (11), 1481-1485 (2013)
Alder JK, Parry EM, Yegnasubramanian S, Wagner CL, Lieblich LM, Auerbach R, Auerbach AD, Wheelan SJ and Armanios M.


book

Dyskeratosis congenita mutations in dyskerin SUMOylation consensus sites lead to impaired telomerase RNA accumulation and telomere defects
Hum. Mol. Genet. 22 (17), 3498-3507 (2013)
Brault ME, Lauzon C and Autexier C.


book

A family with Hoyeraal-Hreidarsson syndrome and four variants in two genes of the telomerase core complex
Pediatr Blood Cancer 60 (6), E4-E6 (2013)
Vogiatzi P, Perdigones N, Mason PJ, Wilson DB and Bessler M.


book

DKC1 gene mutations in human sporadic cancer
Histol. Histopathol. 28 (3), 365-372 (2013)
Penzo M, Casoli L, Ceccarelli C, Trere D, Ludovini V, Crino L and Montanaro L.


book

A new human dyskerin isoform with cytoplasmic localization
Biochim. Biophys. Acta 1810 (12), 1361-1368 (2011)
Angrisani A, Turano M, Paparo L, Di Mauro C and Furia M.


book

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
Nat. Genet. 19 (1), 32-38 (1998)
Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason PJ, Poustka A and Dokal I.


book

Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita
Am. J. Hum. Genet. 60 (3), 581-587 (1997)
Devriendt K, Matthijs G, Legius E, Schollen E, Blockmans D, van Geet C, Degreef H, Cassiman JJ and Fryns JP.


book

The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia
Eur. J. Pediatr. 154 (4), 304-308 (1995)
Aalfs CM, van den Berg H, Barth PG and Hennekam RC.


book

Dyskeratosis Congenita
(in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Savage,S.A.


 
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