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DKC1 dyskeratosis congenita 1, dyskerin [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,





The following DKC1 gene sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the DKC1 gene 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
$379
OHu23916 NM_001142463 Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 2, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 7-9 $429
OHu23474 NM_001288747 Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 3, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 7-9 $319

*Business Day
**You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.


CloneID OHu23856
Accession Version NM_001363.4
Sequence Information ORF Nucleotide Sequence (Length: 1545bp)
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
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. 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]. 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.
RefSeqNP_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
Position Chain Variation Link
83 83 c, g dbSNP:199422241
229 229 c, t dbSNP:121912303
253 253 c, t dbSNP:199422242
315 315 a, c, g dbSNP:137854491
330 330 g, t dbSNP:121912293
333 333 -, ctt dbSNP:137854489
333 333 ct, ta dbSNP:137854490
337 337 c, t dbSNP:28936072
339 339 a, g dbSNP:121912296
343 343 c, g dbSNP:121912292
345 345 a, g dbSNP:121912302
351 351 a, g dbSNP:199422243
370 370 c, t dbSNP:121912304
390 390 ct, tc dbSNP:121912287
418 418 c, g dbSNP:121912301
420 420 a, g dbSNP:121912297
424 424 c, t dbSNP:199422244
428 428 a, c dbSNP:199422245
438 438 ct, ta dbSNP:121912294
438 438 c, t dbSNP:121912306
585 585 a, g dbSNP:121912305
593 593 a, g, t dbSNP:2728532
696 696 c, t dbSNP:199422246
1062 1062 a, c dbSNP:146700772
1135 1135 a, g dbSNP:199422247
1165 1165 a, g dbSNP:199422248
1173 1173 c, g, t dbSNP:121912290
1185 1185 a, c, g dbSNP:2728726
1189 1189 a, g dbSNP:121912291
1273 1273 c, t dbSNP:121912300
1274 1274 a, g dbSNP:121912298
1282 1282 c, t dbSNP:121912288
1293 1293 a, g dbSNP:137854492
1299 1299 a, g dbSNP:199422249
1371 1371 a, g dbSNP:483352713
1374 1374 c, t dbSNP:199422250
1375 1375 c, t dbSNP:199422251
1380 1380 a, g dbSNP:199422252
1417 1417 c, t dbSNP:199422253
1428 1428 a, g dbSNP:121912299
1429 1429 a, g dbSNP:121912295
1447 1447 c, t dbSNP:199422254
1450 1450 c, t dbSNP:121912289
1529 1529 a, g dbSNP:189466923
1685 1685 c, t dbSNP:1127051
1775 1775 a, c, g dbSNP:1800533
1798 1798 a, c dbSNP:11795799
1866 1866 a, g dbSNP:7878787
2082 2082 c, t dbSNP:141487608

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
Accession Version NM_001142463.2
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
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. 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]. 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.
RefSeqNP_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
Position Chain Variation Link
83 83 c, g dbSNP:199422241
229 229 c, t dbSNP:121912303
253 253 c, t dbSNP:199422242
315 315 a, c, g dbSNP:137854491
330 330 g, t dbSNP:121912293
333 333 -, ctt dbSNP:137854489
333 333 ct, ta dbSNP:137854490
337 337 c, t dbSNP:28936072
339 339 a, g dbSNP:121912296
343 343 c, g dbSNP:121912292
345 345 a, g dbSNP:121912302
351 351 a, g dbSNP:199422243
370 370 c, t dbSNP:121912304
390 390 ct, tc dbSNP:121912287
418 418 c, g dbSNP:121912301
420 420 a, g dbSNP:121912297
424 424 c, t dbSNP:199422244
428 428 a, c dbSNP:199422245
438 438 ct, ta dbSNP:121912294
438 438 c, t dbSNP:121912306
585 585 a, g dbSNP:121912305
593 593 a, g, t dbSNP:2728532
696 696 c, t dbSNP:199422246
1062 1062 a, c dbSNP:146700772
1135 1135 a, g dbSNP:199422247
1165 1165 a, g dbSNP:199422248
1173 1173 c, g, t dbSNP:121912290
1185 1185 a, c, g dbSNP:2728726
1189 1189 a, g dbSNP:121912291
1273 1273 c, t dbSNP:121912300
1274 1274 a, g dbSNP:121912298
1282 1282 c, t dbSNP:121912288
1293 1293 a, g dbSNP:137854492
1299 1299 a, g dbSNP:199422249
1371 1371 a, g dbSNP:483352713
1374 1374 c, t dbSNP:199422250
1375 1375 c, t dbSNP:199422251
1380 1380 a, g dbSNP:199422252
1417 1417 c, t dbSNP:199422253
1428 1428 a, g dbSNP:121912299
1429 1429 a, g dbSNP:121912295
1447 1447 c, t dbSNP:199422254
1450 1450 c, t dbSNP:121912289
1514 1514 a, g dbSNP:189466923
1670 1670 c, t dbSNP:1127051
1760 1760 a, c, g dbSNP:1800533
1783 1783 a, c dbSNP:11795799
1851 1851 a, g dbSNP:7878787
2067 2067 c, t dbSNP:141487608

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
Accession Version NM_001288747.1
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
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. 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]. 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.
RefSeqNP_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
Position Chain Variation Link
83 83 c, g dbSNP:199422241
229 229 c, t dbSNP:121912303
253 253 c, t dbSNP:199422242
315 315 a, c, g dbSNP:137854491
330 330 g, t dbSNP:121912293
333 333 -, ctt dbSNP:137854489
333 333 ct, ta dbSNP:137854490
337 337 c, t dbSNP:28936072
339 339 a, g dbSNP:121912296
343 343 c, g dbSNP:121912292
345 345 a, g dbSNP:121912302
351 351 a, g dbSNP:199422243
370 370 c, t dbSNP:121912304
390 390 ct, tc dbSNP:121912287
418 418 c, g dbSNP:121912301
420 420 a, g dbSNP:121912297
424 424 c, t dbSNP:199422244
428 428 a, c dbSNP:199422245
438 438 ct, ta dbSNP:121912294
438 438 c, t dbSNP:121912306
585 585 a, g dbSNP:121912305
593 593 a, g, t dbSNP:2728532
696 696 c, t dbSNP:199422246
1062 1062 a, c dbSNP:146700772
1135 1135 a, g dbSNP:199422247
1165 1165 a, g dbSNP:199422248
1173 1173 c, g, t dbSNP:121912290
1185 1185 a, c, g dbSNP:2728726
1189 1189 a, g dbSNP:121912291
1273 1273 c, t dbSNP:121912300
1274 1274 a, g dbSNP:121912298
1282 1282 c, t dbSNP:121912288
1293 1293 a, g dbSNP:137854492
1299 1299 a, g dbSNP:199422249
1371 1371 a, g dbSNP:483352713
1374 1374 c, t dbSNP:199422250
1375 1375 c, t dbSNP:199422251
1380 1380 a, g dbSNP:199422252
1417 1417 c, t dbSNP:199422253
1428 1428 a, g dbSNP:121912299
1429 1429 a, g dbSNP:121912295
1447 1447 c, t dbSNP:199422254
1450 1450 c, t dbSNP:121912289
1865 1865 a, g dbSNP:199881721
2018 2018 a, g dbSNP:189466923
2174 2174 c, t dbSNP:1127051
2264 2264 a, c, g dbSNP:1800533
2287 2287 a, c dbSNP:11795799
2355 2355 a, g dbSNP:7878787
2571 2571 c, t dbSNP:141487608

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.