Email to GenScript

Human  Mouse  Rat  Other  

Search Help

Human  Mouse  Rat  Other  

  • THAT   AND
  • THAT   AND


PNKD paroxysmal nonkinesigenic dyskinesia [Homo sapiens (human)]

Gene Symbol PNKD
Entrez Gene ID 25953
Full Name paroxysmal nonkinesigenic dyskinesia
Synonyms BRP17, DYT8, FKSG19, FPD1, KIPP1184, MR-1, MR1, PDC, PKND1, TAHCCP2
General protein information
Preferred Names
probable hydrolase PNKD
Names
probable hydrolase PNKD
brain protein 17
myofibrillogenesis regulator 1
trans-activated by hepatitis C virus core protein 2
NP_001070867.1
NP_056303.3
NP_072094.1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

2

2q35

Summary This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]. lac of sum
Disorder MIM:

609023

Disorder Html: Paroxysmal nonkinesigenic dyskinesia, 118800 (3)
CloneID RefSeq Accession Definition **Vector *Turnaround time Price
OHu22569 NM_022572 Homo sapiens paroxysmal nonkinesigenic dyskinesia (PNKD), transcript variant 2, mRNA. pcDNA3.1-C-(k)DYK In stock 5-7 Starting from $99.00
OHu25801 NM_015488 Homo sapiens paroxysmal nonkinesigenic dyskinesia (PNKD), transcript variant 1, mRNA. pcDNA3.1-C-(k)DYK Not in stock 7-9 Starting from $99.00
OHu27071 NM_001077399 Homo sapiens paroxysmal nonkinesigenic dyskinesia (PNKD), transcript variant 3, mRNA. pcDNA3.1-C-(k)DYK In stock 5-7 Starting from $99.00

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



CloneID OHu22569D
Sequence Information ORF Nucleotide Sequence (Length: 1086bp)
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 probable hydrolase PNKD isoform 2
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BU553179.1, BC002937.2, AC021016.5 and BC036457.2. On Mar 25, 2010 this sequence version replaced gi:116642880. Summary: This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]. Transcript Variant: This variant (2), alternately referred to as the medium form (MR-1M), differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to 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. ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## ##Evidence-Data-START## Transcript exon combination :: AY358753.1, BC002937.2 [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
ATGGCTTGGC AGGGCTGGCC CGCGGCGTGG CAGTGGGTCG CCGGCTGCTG GCTCCTCCTC 
GTCCTTGTCC TCGTCCTACT TGTGAGCCCC CGCGGCTGCC GAGCGCGGCG GGGCCTCCGC
GGTCTGCTCA TGGCGCACAG CCAGCGGCTG CTCTTCCGAA TCGGGTACAG CCTGTACACC
CGCACCTGGC TCGGGTACCT CTTCTACCGA CAGCAGCTGC GCAGGGCTCG GAATCGCTAC
CCTAAAGGCC ACTCGAAAAC CCAGCCCCGC CTCTTCAATG GAGTGAAGGT GCTTCCCATC
CCTGTCCTCT CGGACAACTA CAGCTACCTC ATCATCGACA CCCAGGCCCA GCTGGCTGTG
GCTGTGGACC CTTCAGACCC TCGGGCTGTG CAGGCTTCCA TTGAAAAGGA AGGGGTCACC
TTGGTCGCCA TTCTGTGTAC TCACAAGCAC TGGGACCACA GTGGAGGGAA CCGTGACCTC
AGCCGGCGGC ACCGGGACTG TCGGGTGTAC GGGAGCCCTC AGGACGGCAT CCCCTACCTC
ACCCATCCCC TGTGTCATCA AGATGTGGTC AGCGTGGGAC GGCTTCAGAT CCGGGCCCTG
GCTACACCTG GCCACACACA AGGCCATCTG GTCTACCTAC TGGATGGGGA GCCCTACAAG
GGTCCCTCCT GCCTCTTCTC AGGGGACCTG CTCTTCCTCT CTGGCTGTGG GCGGACCTTT
GAGGGCAATG CAGAGACCAT GCTGAGCTCA CTGGACACTG TGCTGGGGCT AGGGGATGAC
ACCCTTCTGT GGCCTGGTCA TGAGTATGCA GAGGAGAACC TGGGCTTTGC AGGTGTGGTG
GAGCCCGAGA ACCTGGCCCG GGAGAGGAAG ATGCAGTGGG TGCAGCGGCA GCGGCTGGAG
CGCAAGGGCA CGTGCCCATC TACCCTGGGA GAGGAGCGCT CCTACAACCC GTTCCTGAGA
ACCCACTGCC TGGCGCTACA GGAGGCTCTG GGGCCGGGGC CGGGCCCCAC TGGGGATGAT
GACTACTCCC GGGCCCAGCT CCTGGAAGAG CTCCGCCGGC TGAAGGATAT GCACAAGAGC
AAGTGA
The stop codons will be deleted if pcDNA3.1-C-(k)DYK vector is selected.
RefSeqNP_072094.1
CDS90..1175
Misc Feature(1)45..47(+)
Misc Feature(2)174..1157(+)
Misc Feature(3)378..1157(+)
Exon (1)1..253
Gene:PNKD
Gene Synonym:
Exon (2)254..369
Gene:PNKD
Gene Synonym:
Exon (3)370..482
Gene:PNKD
Gene Synonym:
Exon (4)483..541
Gene:PNKD
Gene Synonym:
Exon (5)542..634
Gene:PNKD
Gene Synonym:
Exon (6)635..798
Gene:PNKD
Gene Synonym:
Exon (7)799..885
Gene:PNKD
Gene Synonym:
Exon (8)886..1001
Gene:PNKD
Gene Synonym:
Exon (9)1002..2987
Gene:PNKD
Gene Synonym:
Translation
Position Chain Variation Link
49 49 a, g dbSNP:779407846
57 57 a, g dbSNP:748897430
70 70 a, g dbSNP:755428744
71 71 a, g dbSNP:541888307
75 75 c, g dbSNP:748395743
77 77 a, c, g dbSNP:772460427
82 82 c, t dbSNP:563287354
83 83 c, t dbSNP:530517234
85 85 c, g dbSNP:771185509
91 91 a, t dbSNP:776565425
94 94 c, t dbSNP:759716706
96 96 a, t dbSNP:763876436
97 97 g, t dbSNP:774346082
98 98 a, g dbSNP:761659061
100 100 a, g dbSNP:767442015
110 110 c, t dbSNP:113750225
112 112 c, t dbSNP:755795282
116 116 a, g dbSNP:766115175
120 120 c, t dbSNP:753231462
124 124 a, g dbSNP:754521313
132 132 a, g, t dbSNP:779248698
139 139 a, g dbSNP:758955194
141 141 c, t dbSNP:778084321
144 144 c, t dbSNP:747444303
146 146 c, t dbSNP:771124313
156 156 -, gtcctc dbSNP:749634147
159 159 c, t dbSNP:545407591
163 163 c, t dbSNP:781485673
172 172 -, tgagccc dbSNP:771409063
180 180 c, t dbSNP:745865903
182 182 c, t dbSNP:769947596
184 184 a, g dbSNP:774105686
187 187 a, g dbSNP:761820214
193 193 a, c, t dbSNP:565193281
195 195 c, g dbSNP:773129563
196 196 a, c, g dbSNP:760560623
199 199 c, g dbSNP:753560066
223 223 a, c dbSNP:532690040
226 226 a, c dbSNP:75407411
230 230 a, c dbSNP:547552039
231 231 c, t dbSNP:201323830
234 234 a, c dbSNP:778307105
235 235 a, g dbSNP:374078063
239 239 a, g dbSNP:757642992
242 242 c, t dbSNP:781228549
260 260 c, g dbSNP:540125259
263 263 a, g dbSNP:145583175
268 268 c, t dbSNP:200454806
270 270 c, t dbSNP:769375770
271 271 a, g dbSNP:150402000
281 281 c, g, t dbSNP:138241166
282 282 a, g dbSNP:147259983
286 286 a, g dbSNP:762348312
290 290 c, t dbSNP:550380646
292 292 c, t dbSNP:750786634
293 293 a, c dbSNP:768888361
294 294 a, c, t dbSNP:756441321
297 297 a, c dbSNP:754138242
298 298 a, g dbSNP:140941237
300 300 c, t dbSNP:779107999
310 310 a, c, g, t dbSNP:201495280
312 312 a, g dbSNP:745606730
316 316 c, t dbSNP:374645683
318 318 c, t dbSNP:533033409
319 319 a, c, g dbSNP:368934552
325 325 a, g dbSNP:768336954
326 326 -, ctacc dbSNP:745362726
328 328 a, c, t dbSNP:773907885
338 338 c, g, t dbSNP:144856848
340 340 a, g dbSNP:142536637
344 344 a, g dbSNP:766828848
348 348 a, c, g dbSNP:202190131
354 354 c, t dbSNP:371337188
355 355 c, g dbSNP:752767974
357 357 c, t dbSNP:374529489
358 358 a, g, t dbSNP:781140528
366 366 a, g dbSNP:369330618
367 367 a, g dbSNP:199572198
373 373 c, t dbSNP:371779785
378 378 c, g dbSNP:555212461
388 388 c, t dbSNP:762861678
394 394 g, t dbSNP:777146291
400 400 c, t dbSNP:200782799
401 401 a, g dbSNP:544137720
402 402 a, g dbSNP:777285859
406 406 a, g dbSNP:759935324
416 416 c, t dbSNP:770073859
423 423 a, g dbSNP:775969033
425 425 a, c, g dbSNP:763052723
426 426 a, g dbSNP:139792709
432 432 c, t dbSNP:372675235
436 436 c, t dbSNP:766237012
439 439 a, t dbSNP:562682208
444 444 g, t dbSNP:754958157
447 447 g, t dbSNP:764910957
448 448 g, t dbSNP:533028105
450 450 c, g dbSNP:757975746
452 452 -, g dbSNP:142177659
459 459 a, c dbSNP:545078283
465 465 a, g dbSNP:770623714
470 470 g, t dbSNP:746456607
471 471 c, t dbSNP:756863425
472 472 a, g dbSNP:73990423
486 486 a, t dbSNP:749547648
490 490 c, t dbSNP:373712088
491 491 c, t dbSNP:774747492
493 493 a, t dbSNP:758928375
498 498 a, g, t dbSNP:577726061
499 499 a, c dbSNP:773268460
502 502 g, t dbSNP:760824902
503 503 a, g dbSNP:34014804
509 509 c, t dbSNP:775533328
515 515 c, t dbSNP:376951824
526 526 a, g dbSNP:763955641
527 527 c, t dbSNP:751436462
533 533 a, c dbSNP:761550458
539 539 a, c dbSNP:767335285
540 540 c, t dbSNP:749843017
549 549 a, c dbSNP:777086893
550 550 a, g dbSNP:147885219
557 557 a, g dbSNP:748991526
560 560 c, t dbSNP:761712009
562 562 a, g dbSNP:767210828
567 567 c, t dbSNP:149109250
571 571 c, g dbSNP:560763344
573 573 c, t dbSNP:750121779
574 574 a, g dbSNP:143162613
576 576 c, t dbSNP:375550686
577 577 a, g dbSNP:141506076
582 582 c, t dbSNP:755463007
583 583 a, c, g dbSNP:199987826
591 591 c, t dbSNP:758791360
592 592 a, g dbSNP:777805823
595 595 g, t dbSNP:747228180
599 599 c, t dbSNP:143804285
600 600 a, g, t dbSNP:554148467
600 600 -, g dbSNP:761519363
614 614 c, t dbSNP:139122042
619 619 a, t dbSNP:774436478
635 635 a, t dbSNP:776176020
638 638 c, t dbSNP:758994100
644 644 c, t dbSNP:764700824
653 653 c, t dbSNP:775017276
654 654 a, g dbSNP:763450388
656 656 g, t dbSNP:764570137
662 662 c, t dbSNP:373992679
663 663 a, g dbSNP:771841680
665 665 a, g dbSNP:767740808
669 669 a, c, t dbSNP:34745867
670 670 a, g dbSNP:746884706
680 680 c, g dbSNP:749437540
681 681 c, t dbSNP:758297049
682 682 a, g dbSNP:777574834
684 684 a, g dbSNP:746776058
692 692 c, t dbSNP:571540279
708 708 a, c dbSNP:781010423
709 709 -, a dbSNP:773192502
713 713 a, c dbSNP:745486095
719 719 a, g dbSNP:769506823
721 721 c, t dbSNP:774970618
722 722 c, t dbSNP:762467071
750 750 g, t dbSNP:769143232
756 756 c, t dbSNP:774752886
757 757 c, t dbSNP:762190613
772 772 a, g dbSNP:767751539
776 776 c, g dbSNP:750857550
778 778 c, t dbSNP:760965459
786 786 c, g, t dbSNP:766721183
788 788 c, t dbSNP:755042418
790 790 c, t dbSNP:777714592
801 801 c, t dbSNP:777091882
802 802 a, g dbSNP:759669801
806 806 c, t dbSNP:765549693
812 812 g, t dbSNP:775378496
818 818 g, t dbSNP:763028977
831 831 c, t dbSNP:767404629
849 849 c, g dbSNP:750386441
852 852 -, t dbSNP:767627443
852 852 c, t dbSNP:149643391
856 856 a, g, t dbSNP:766132328
871 871 c, t dbSNP:754573542
872 872 a, c dbSNP:778631207
893 893 g, t dbSNP:752371418
894 894 c, t dbSNP:368638126
900 900 -, gag dbSNP:764232852
904 904 a, g dbSNP:202211738
913 913 c, g dbSNP:751168512
915 915 c, t dbSNP:757776894
920 920 a, g dbSNP:781726595
923 923 g, t dbSNP:746182242
932 932 c, g dbSNP:201068431
935 935 c, g dbSNP:780334841
936 936 a, g dbSNP:139825405
947 947 a, c, g dbSNP:146224183
948 948 c, t dbSNP:761896240
949 949 a, g dbSNP:61745358
956 956 a, g dbSNP:116144189
965 965 a, g dbSNP:200784462
972 972 c, t dbSNP:765048900
974 974 c, g dbSNP:752603398
976 976 a, g dbSNP:200815994
979 979 a, t dbSNP:763849272
981 981 c, t dbSNP:751050132
982 982 a, g dbSNP:756826546
987 987 g, t dbSNP:781505065
990 990 c, t dbSNP:149750691
991 991 a, g dbSNP:756621298
1000 1000 c, t dbSNP:780464180
1001 1001 a, g dbSNP:371356115
1008 1008 c, t dbSNP:535942439
1023 1023 g, t dbSNP:754136722
1027 1027 a, g dbSNP:374137801
1028 1028 c, t dbSNP:779299050
1030 1030 a, c, t dbSNP:200128452
1033 1033 a, c dbSNP:111283890
1039 1039 c, t dbSNP:147840720
1040 1040 a, g, t dbSNP:368559097
1044 1044 c, g dbSNP:769701635
1063 1063 c, t dbSNP:775603840
1064 1064 a, g dbSNP:575546377
1079 1079 a, g dbSNP:768551689
1085 1085 a, g dbSNP:139193832
1087 1087 a, g dbSNP:761523142
1089 1089 c, t dbSNP:767134422
1091 1091 a, g dbSNP:148953301
1093 1093 g, t dbSNP:760109450
1101 1101 -, g dbSNP:757625916
1107 1107 a, g dbSNP:766821861
1111 1111 a, t dbSNP:754318977
1112 1112 c, t dbSNP:755519532
1119 1119 c, g, t dbSNP:185906233
1120 1120 a, g dbSNP:372191275
1129 1129 c, t dbSNP:777859269
1140 1140 c, t dbSNP:747068598
1143 1143 c, t dbSNP:200042352
1144 1144 a, g dbSNP:781473009
1146 1146 c, t dbSNP:377569724
1147 1147 a, g dbSNP:148141539
1148 1148 a, g dbSNP:774275060
1155 1155 a, g dbSNP:747908967
1156 1156 -, atatgc dbSNP:576363906
1156 1156 a, t dbSNP:771691112
1159 1159 c, t dbSNP:772772846
1166 1166 g, t dbSNP:760423147
1167 1167 a, t dbSNP:765841531
1171 1171 a, g dbSNP:776190115
1177 1177 a, g dbSNP:199958845
1180 1180 c, t dbSNP:760022142
1186 1186 a, g dbSNP:561540264
1188 1188 -, cccag dbSNP:746425926
1196 1196 c, t dbSNP:753033917
1205 1205 a, c dbSNP:763256478
1208 1208 c, t dbSNP:766072633
1209 1209 a, g, t dbSNP:751712050
1213 1213 a, g dbSNP:201679687
1214 1214 c, g dbSNP:750589574
1219 1219 c, g dbSNP:544253294
1221 1221 c, t dbSNP:562448833
1226 1226 c, t dbSNP:778722663
1241 1241 c, g dbSNP:532915776
1253 1253 c, t dbSNP:751214516
1267 1267 a, c dbSNP:921970
1275 1275 a, g dbSNP:566510644
1285 1285 a, c dbSNP:553942813
1293 1293 a, g dbSNP:113346552
1330 1330 c, t dbSNP:753020574
1338 1338 c, g dbSNP:756538507
1356 1356 c, g dbSNP:73088173
1386 1386 c, t dbSNP:189926206
1401 1401 c, t dbSNP:777821024
1414 1414 a, g dbSNP:568631025
1453 1453 -, g dbSNP:34503871
1486 1486 g, t dbSNP:535683095
1525 1525 a, g dbSNP:557397340
1534 1534 c, t dbSNP:569267242
1580 1580 c, t dbSNP:527750235
1581 1581 c, t dbSNP:539579069
1589 1589 c, t dbSNP:116778315
1612 1612 -, t dbSNP:35998844
1626 1626 a, g dbSNP:148230498
1682 1682 c, g dbSNP:7586140
1716 1716 c, t dbSNP:560041314
1736 1736 -, t dbSNP:535425478
1756 1756 c, t dbSNP:574138188
1782 1782 c, t dbSNP:141201996
1789 1789 c, t dbSNP:182705203
1793 1793 g, t dbSNP:562571978
1816 1816 a, c dbSNP:577650959
1853 1853 -, ct dbSNP:138962566
1854 1854 -, tc dbSNP:3832106
1856 1856 -, tc dbSNP:397775550
1876 1876 a, g dbSNP:545153045
1893 1893 a, g dbSNP:376822065
1942 1942 a, g dbSNP:746035636
2001 2001 g, t dbSNP:772338538
2011 2011 c, t dbSNP:1052573
2013 2013 c, t dbSNP:560187472
2025 2025 a, g dbSNP:527326155
2039 2039 c, t dbSNP:547275400
2066 2066 a, g dbSNP:562264230
2073 2073 c, t dbSNP:529454300
2074 2074 a, g dbSNP:150674174
2077 2077 a, c, t dbSNP:1052578
2133 2133 a, c dbSNP:539541095
2137 2137 a, c dbSNP:747547213
2157 2157 c, t dbSNP:140903787
2163 2163 c, t dbSNP:373644668
2167 2167 c, g dbSNP:115429065
2173 2173 c, g dbSNP:533807628
2227 2227 a, g dbSNP:555609617
2252 2252 a, g dbSNP:9076
2260 2260 a, g dbSNP:538175773
2293 2293 a, t dbSNP:762512024
2303 2303 a, g dbSNP:765874341
2314 2314 c, g dbSNP:547847157
2316 2316 a, g dbSNP:577960985
2320 2320 c, t dbSNP:144938491
2323 2323 a, c dbSNP:568061770
2360 2360 g, t dbSNP:111979974
2365 2365 a, g dbSNP:533607234
2368 2368 c, t dbSNP:76752438
2369 2369 a, g dbSNP:572024834
2389 2389 a, g dbSNP:112526968
2418 2418 g, t dbSNP:570255660
2448 2448 c, t dbSNP:768691890
2455 2455 c, t dbSNP:542657666
2498 2498 a, g dbSNP:767244509
2614 2614 a, g dbSNP:560971500
2615 2615 c, g dbSNP:147528375
2621 2621 a, t dbSNP:373344102
2622 2622 c, t dbSNP:186603637
2646 2646 c, t dbSNP:562931645
2714 2714 a, c dbSNP:533357370
2724 2724 a, g dbSNP:79061826
2727 2727 c, g dbSNP:752573980
2767 2767 c, g dbSNP:377047810
2786 2786 c, t dbSNP:139873157
2788 2788 c, t dbSNP:3204750
2801 2801 a, g dbSNP:533899847
2813 2813 c, t dbSNP:149972396
2840 2840 a, g dbSNP:145193682
2856 2856 a, c dbSNP:191134306
2869 2869 c, g dbSNP:370159862
2898 2898 c, t dbSNP:58320146
2900 2900 c, t dbSNP:149172912
2919 2919 a, g dbSNP:776243246
2928 2928 a, g dbSNP:539633206
2944 2944 c, t dbSNP:753822442
2949 2949 a, g dbSNP:538841748
2980 2980 -, a dbSNP:572892168
2986 2986 -, c dbSNP:35912779

Target ORF information:

RefSeq Version NM_022572
Organism Homo sapiens (human)
Definition Homo sapiens paroxysmal nonkinesigenic dyskinesia (PNKD), transcript variant 2, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1-C-(k)DYK
NM_022572

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
ATGGCTTGGC AGGGCTGGCC CGCGGCGTGG CAGTGGGTCG CCGGCTGCTG GCTCCTCCTC 
GTCCTTGTCC TCGTCCTACT TGTGAGCCCC CGCGGCTGCC GAGCGCGGCG GGGCCTCCGC
GGTCTGCTCA TGGCGCACAG CCAGCGGCTG CTCTTCCGAA TCGGGTACAG CCTGTACACC
CGCACCTGGC TCGGGTACCT CTTCTACCGA CAGCAGCTGC GCAGGGCTCG GAATCGCTAC
CCTAAAGGCC ACTCGAAAAC CCAGCCCCGC CTCTTCAATG GAGTGAAGGT GCTTCCCATC
CCTGTCCTCT CGGACAACTA CAGCTACCTC ATCATCGACA CCCAGGCCCA GCTGGCTGTG
GCTGTGGACC CTTCAGACCC TCGGGCTGTG CAGGCTTCCA TTGAAAAGGA AGGGGTCACC
TTGGTCGCCA TTCTGTGTAC TCACAAGCAC TGGGACCACA GTGGAGGGAA CCGTGACCTC
AGCCGGCGGC ACCGGGACTG TCGGGTGTAC GGGAGCCCTC AGGACGGCAT CCCCTACCTC
ACCCATCCCC TGTGTCATCA AGATGTGGTC AGCGTGGGAC GGCTTCAGAT CCGGGCCCTG
GCTACACCTG GCCACACACA AGGCCATCTG GTCTACCTAC TGGATGGGGA GCCCTACAAG
GGTCCCTCCT GCCTCTTCTC AGGGGACCTG CTCTTCCTCT CTGGCTGTGG GCGGACCTTT
GAGGGCAATG CAGAGACCAT GCTGAGCTCA CTGGACACTG TGCTGGGGCT AGGGGATGAC
ACCCTTCTGT GGCCTGGTCA TGAGTATGCA GAGGAGAACC TGGGCTTTGC AGGTGTGGTG
GAGCCCGAGA ACCTGGCCCG GGAGAGGAAG ATGCAGTGGG TGCAGCGGCA GCGGCTGGAG
CGCAAGGGCA CGTGCCCATC TACCCTGGGA GAGGAGCGCT CCTACAACCC GTTCCTGAGA
ACCCACTGCC TGGCGCTACA GGAGGCTCTG GGGCCGGGGC CGGGCCCCAC TGGGGATGAT
GACTACTCCC GGGCCCAGCT CCTGGAAGAG CTCCGCCGGC TGAAGGATAT GCACAAGAGC
AAGTGA

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


CloneID OHu25801D
Sequence Information ORF Nucleotide Sequence (Length: 1158bp)
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 probable hydrolase PNKD isoform 1 precursor
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AF318057.1, AB033010.1, BC002937.2 and BC036457.2. This sequence is a reference standard in the RefSeqGene project. On Oct 25, 2006 this sequence version replaced gi:37059800. Summary: This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]. Transcript Variant: This variant (1), alternately referred to as the long form (MR-1L), represents the longest transcript and 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. ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## ##Evidence-Data-START## Transcript exon combination :: BC036457.2, AB033010.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142363, SAMEA2145743 [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
ATGGCGGCGG TGGTAGCTGC TACGGCGCTG AAGGGCCGGG GGGCGAGAAA TGCCCGCGTC 
CTCCGGGGGA TTCTCGCAGG AGCCACAGCT AACAAGGCTT CTCATAACAG GACCCGGGCC
CTGCAAAGCC ACAGCTCCCC AGAGGGCAAG GAGGAACCTG AACCCCTATC CCCGGAGCTG
GAATACATTC CCAGAAAGAG GGGCAAGAAC CCCATGAAAG CTGTGGGACT GGCCTGGTAC
AGCCTGTACA CCCGCACCTG GCTCGGGTAC CTCTTCTACC GACAGCAGCT GCGCAGGGCT
CGGAATCGCT ACCCTAAAGG CCACTCGAAA ACCCAGCCCC GCCTCTTCAA TGGAGTGAAG
GTGCTTCCCA TCCCTGTCCT CTCGGACAAC TACAGCTACC TCATCATCGA CACCCAGGCC
CAGCTGGCTG TGGCTGTGGA CCCTTCAGAC CCTCGGGCTG TGCAGGCTTC CATTGAAAAG
GAAGGGGTCA CCTTGGTCGC CATTCTGTGT ACTCACAAGC ACTGGGACCA CAGTGGAGGG
AACCGTGACC TCAGCCGGCG GCACCGGGAC TGTCGGGTGT ACGGGAGCCC TCAGGACGGC
ATCCCCTACC TCACCCATCC CCTGTGTCAT CAAGATGTGG TCAGCGTGGG ACGGCTTCAG
ATCCGGGCCC TGGCTACACC TGGCCACACA CAAGGCCATC TGGTCTACCT ACTGGATGGG
GAGCCCTACA AGGGTCCCTC CTGCCTCTTC TCAGGGGACC TGCTCTTCCT CTCTGGCTGT
GGGCGGACCT TTGAGGGCAA TGCAGAGACC ATGCTGAGCT CACTGGACAC TGTGCTGGGG
CTAGGGGATG ACACCCTTCT GTGGCCTGGT CATGAGTATG CAGAGGAGAA CCTGGGCTTT
GCAGGTGTGG TGGAGCCCGA GAACCTGGCC CGGGAGAGGA AGATGCAGTG GGTGCAGCGG
CAGCGGCTGG AGCGCAAGGG CACGTGCCCA TCTACCCTGG GAGAGGAGCG CTCCTACAAC
CCGTTCCTGA GAACCCACTG CCTGGCGCTA CAGGAGGCTC TGGGGCCGGG GCCGGGCCCC
ACTGGGGATG ATGACTACTC CCGGGCCCAG CTCCTGGAAG AGCTCCGCCG GCTGAAGGAT
ATGCACAAGA GCAAGTGA
The stop codons will be deleted if pcDNA3.1-C-(k)DYK vector is selected.
RefSeqNP_056303.3
CDS145..1302
Misc Feature(1)43..45(+)
Misc Feature(2)496..1182(+)
Misc Feature(3)505..1284(+)
Misc Feature(4)1015..1023(+)
Misc Feature(5)1270..1281(+)
Exon (1)1..211
Gene:PNKD
Gene Synonym:
Exon (2)212..380
Gene:PNKD
Gene Synonym:
Exon (3)381..496
Gene:PNKD
Gene Synonym:
Exon (4)497..609
Gene:PNKD
Gene Synonym:
Exon (5)610..668
Gene:PNKD
Gene Synonym:
Exon (6)669..761
Gene:PNKD
Gene Synonym:
Exon (7)762..925
Gene:PNKD
Gene Synonym:
Exon (8)926..1012
Gene:PNKD
Gene Synonym:
Exon (9)1013..1128
Gene:PNKD
Gene Synonym:
Exon (10)1129..3114
Gene:PNKD
Gene Synonym:
Translation
Position Chain Variation Link
14 14 a, g dbSNP:531036566
16 16 a, g dbSNP:753684702
40 40 a, t dbSNP:183319984
52 52 a, g dbSNP:557382536
80 80 a, g dbSNP:570619432
91 91 c, t dbSNP:534828924
106 106 c, t dbSNP:772861629
127 127 -, g dbSNP:752570447
127 127 c, g dbSNP:746558436
130 130 a, g dbSNP:771466269
138 138 g, t dbSNP:777046045
140 140 c, t dbSNP:552943410
144 144 c, g dbSNP:765614612
146 146 g, t dbSNP:775653461
147 147 a, g dbSNP:568140659
149 149 c, t dbSNP:764107923
150 150 -, atgaa dbSNP:756065510
152 152 -, g dbSNP:145266923
152 152 c, t dbSNP:751631915
164 164 c, t dbSNP:121434512
167 167 a, c, g dbSNP:757350092
168 168 a, g dbSNP:371342116
170 170 c, t dbSNP:121434511
178 178 a, g dbSNP:754755605
179 179 g, t dbSNP:778883254
180 180 c, t dbSNP:747754197
181 181 -, g dbSNP:777779692
196 196 -, c dbSNP:745868117
205 205 c, t dbSNP:758101708
208 208 c, t dbSNP:777330210
213 213 a, g dbSNP:761897018
221 221 c, t dbSNP:767501883
224 224 a, g dbSNP:753771314
227 227 c, g dbSNP:767828489
238 238 a, t dbSNP:759569070
241 241 c, g, t dbSNP:121434513
245 245 a, c dbSNP:146016925
257 257 c, g, t dbSNP:753100961
260 260 c, g dbSNP:367998906
273 273 c, t dbSNP:199629886
276 276 c, t dbSNP:201920487
289 289 -, ggcaa dbSNP:747278532
292 292 a, t dbSNP:780594684
294 294 a, g dbSNP:371649118
309 309 c, t dbSNP:201680473
310 310 c, g dbSNP:780609587
315 315 c, g dbSNP:749642769
317 317 c, t dbSNP:376689739
322 322 c, t dbSNP:774568291
326 326 a, g dbSNP:761975000
327 327 a, g dbSNP:201211394
328 328 c, t dbSNP:772142996
331 331 a, g dbSNP:564321930
333 333 c, t dbSNP:146100906
341 341 -, ag dbSNP:768975350
348 348 c, t dbSNP:765261684
374 374 c, t dbSNP:752738498
378 378 c, t dbSNP:372581982
387 387 c, g dbSNP:540125259
390 390 a, g dbSNP:145583175
395 395 c, t dbSNP:200454806
397 397 c, t dbSNP:769375770
398 398 a, g dbSNP:150402000
408 408 c, g, t dbSNP:138241166
409 409 a, g dbSNP:147259983
413 413 a, g dbSNP:762348312
417 417 c, t dbSNP:550380646
419 419 c, t dbSNP:750786634
420 420 a, c dbSNP:768888361
421 421 a, c, t dbSNP:756441321
424 424 a, c dbSNP:754138242
425 425 a, g dbSNP:140941237
427 427 c, t dbSNP:779107999
437 437 a, c, g, t dbSNP:201495280
439 439 a, g dbSNP:745606730
443 443 c, t dbSNP:374645683
445 445 c, t dbSNP:533033409
446 446 a, c, g dbSNP:368934552
452 452 a, g dbSNP:768336954
453 453 -, ctacc dbSNP:745362726
455 455 a, c, t dbSNP:773907885
465 465 c, g, t dbSNP:144856848
467 467 a, g dbSNP:142536637
471 471 a, g dbSNP:766828848
475 475 a, c, g dbSNP:202190131
481 481 c, t dbSNP:371337188
482 482 c, g dbSNP:752767974
484 484 c, t dbSNP:374529489
485 485 a, g, t dbSNP:781140528
493 493 a, g dbSNP:369330618
494 494 a, g dbSNP:199572198
500 500 c, t dbSNP:371779785
505 505 c, g dbSNP:555212461
515 515 c, t dbSNP:762861678
521 521 g, t dbSNP:777146291
527 527 c, t dbSNP:200782799
528 528 a, g dbSNP:544137720
529 529 a, g dbSNP:777285859
533 533 a, g dbSNP:759935324
543 543 c, t dbSNP:770073859
550 550 a, g dbSNP:775969033
552 552 a, c, g dbSNP:763052723
553 553 a, g dbSNP:139792709
559 559 c, t dbSNP:372675235
563 563 c, t dbSNP:766237012
566 566 a, t dbSNP:562682208
571 571 g, t dbSNP:754958157
574 574 g, t dbSNP:764910957
575 575 g, t dbSNP:533028105
577 577 c, g dbSNP:757975746
579 579 -, g dbSNP:142177659
586 586 a, c dbSNP:545078283
592 592 a, g dbSNP:770623714
597 597 g, t dbSNP:746456607
598 598 c, t dbSNP:756863425
599 599 a, g dbSNP:73990423
613 613 a, t dbSNP:749547648
617 617 c, t dbSNP:373712088
618 618 c, t dbSNP:774747492
620 620 a, t dbSNP:758928375
625 625 a, g, t dbSNP:577726061
626 626 a, c dbSNP:773268460
629 629 g, t dbSNP:760824902
630 630 a, g dbSNP:34014804
636 636 c, t dbSNP:775533328
642 642 c, t dbSNP:376951824
653 653 a, g dbSNP:763955641
654 654 c, t dbSNP:751436462
660 660 a, c dbSNP:761550458
666 666 a, c dbSNP:767335285
667 667 c, t dbSNP:749843017
676 676 a, c dbSNP:777086893
677 677 a, g dbSNP:147885219
684 684 a, g dbSNP:748991526
687 687 c, t dbSNP:761712009
689 689 a, g dbSNP:767210828
694 694 c, t dbSNP:149109250
698 698 c, g dbSNP:560763344
700 700 c, t dbSNP:750121779
701 701 a, g dbSNP:143162613
703 703 c, t dbSNP:375550686
704 704 a, g dbSNP:141506076
709 709 c, t dbSNP:755463007
710 710 a, c, g dbSNP:199987826
718 718 c, t dbSNP:758791360
719 719 a, g dbSNP:777805823
722 722 g, t dbSNP:747228180
726 726 c, t dbSNP:143804285
727 727 a, g, t dbSNP:554148467
727 727 -, g dbSNP:761519363
741 741 c, t dbSNP:139122042
746 746 a, t dbSNP:774436478
762 762 a, t dbSNP:776176020
765 765 c, t dbSNP:758994100
771 771 c, t dbSNP:764700824
780 780 c, t dbSNP:775017276
781 781 a, g dbSNP:763450388
783 783 g, t dbSNP:764570137
789 789 c, t dbSNP:373992679
790 790 a, g dbSNP:771841680
792 792 a, g dbSNP:767740808
796 796 a, c, t dbSNP:34745867
797 797 a, g dbSNP:746884706
807 807 c, g dbSNP:749437540
808 808 c, t dbSNP:758297049
809 809 a, g dbSNP:777574834
811 811 a, g dbSNP:746776058
819 819 c, t dbSNP:571540279
835 835 a, c dbSNP:781010423
836 836 -, a dbSNP:773192502
840 840 a, c dbSNP:745486095
846 846 a, g dbSNP:769506823
848 848 c, t dbSNP:774970618
849 849 c, t dbSNP:762467071
877 877 g, t dbSNP:769143232
883 883 c, t dbSNP:774752886
884 884 c, t dbSNP:762190613
899 899 a, g dbSNP:767751539
903 903 c, g dbSNP:750857550
905 905 c, t dbSNP:760965459
913 913 c, g, t dbSNP:766721183
915 915 c, t dbSNP:755042418
917 917 c, t dbSNP:777714592
928 928 c, t dbSNP:777091882
929 929 a, g dbSNP:759669801
933 933 c, t dbSNP:765549693
939 939 g, t dbSNP:775378496
945 945 g, t dbSNP:763028977
958 958 c, t dbSNP:767404629
976 976 c, g dbSNP:750386441
979 979 -, t dbSNP:767627443
979 979 c, t dbSNP:149643391
983 983 a, g, t dbSNP:766132328
998 998 c, t dbSNP:754573542
999 999 a, c dbSNP:778631207
1020 1020 g, t dbSNP:752371418
1021 1021 c, t dbSNP:368638126
1027 1027 -, gag dbSNP:764232852
1031 1031 a, g dbSNP:202211738
1040 1040 c, g dbSNP:751168512
1042 1042 c, t dbSNP:757776894
1047 1047 a, g dbSNP:781726595
1050 1050 g, t dbSNP:746182242
1059 1059 c, g dbSNP:201068431
1062 1062 c, g dbSNP:780334841
1063 1063 a, g dbSNP:139825405
1074 1074 a, c, g dbSNP:146224183
1075 1075 c, t dbSNP:761896240
1076 1076 a, g dbSNP:61745358
1083 1083 a, g dbSNP:116144189
1092 1092 a, g dbSNP:200784462
1099 1099 c, t dbSNP:765048900
1101 1101 c, g dbSNP:752603398
1103 1103 a, g dbSNP:200815994
1106 1106 a, t dbSNP:763849272
1108 1108 c, t dbSNP:751050132
1109 1109 a, g dbSNP:756826546
1114 1114 g, t dbSNP:781505065
1117 1117 c, t dbSNP:149750691
1118 1118 a, g dbSNP:756621298
1127 1127 c, t dbSNP:780464180
1128 1128 a, g dbSNP:371356115
1135 1135 c, t dbSNP:535942439
1150 1150 g, t dbSNP:754136722
1154 1154 a, g dbSNP:374137801
1155 1155 c, t dbSNP:779299050
1157 1157 a, c, t dbSNP:200128452
1160 1160 a, c dbSNP:111283890
1166 1166 c, t dbSNP:147840720
1167 1167 a, g, t dbSNP:368559097
1171 1171 c, g dbSNP:769701635
1190 1190 c, t dbSNP:775603840
1191 1191 a, g dbSNP:575546377
1206 1206 a, g dbSNP:768551689
1212 1212 a, g dbSNP:139193832
1214 1214 a, g dbSNP:761523142
1216 1216 c, t dbSNP:767134422
1218 1218 a, g dbSNP:148953301
1220 1220 g, t dbSNP:760109450
1228 1228 -, g dbSNP:757625916
1234 1234 a, g dbSNP:766821861
1238 1238 a, t dbSNP:754318977
1239 1239 c, t dbSNP:755519532
1246 1246 c, g, t dbSNP:185906233
1247 1247 a, g dbSNP:372191275
1256 1256 c, t dbSNP:777859269
1267 1267 c, t dbSNP:747068598
1270 1270 c, t dbSNP:200042352
1271 1271 a, g dbSNP:781473009
1273 1273 c, t dbSNP:377569724
1274 1274 a, g dbSNP:148141539
1275 1275 a, g dbSNP:774275060
1282 1282 a, g dbSNP:747908967
1283 1283 -, atatgc dbSNP:576363906
1283 1283 a, t dbSNP:771691112
1286 1286 c, t dbSNP:772772846
1293 1293 g, t dbSNP:760423147
1294 1294 a, t dbSNP:765841531
1298 1298 a, g dbSNP:776190115
1304 1304 a, g dbSNP:199958845
1307 1307 c, t dbSNP:760022142
1313 1313 a, g dbSNP:561540264
1315 1315 -, cccag dbSNP:746425926
1323 1323 c, t dbSNP:753033917
1332 1332 a, c dbSNP:763256478
1335 1335 c, t dbSNP:766072633
1336 1336 a, g, t dbSNP:751712050
1340 1340 a, g dbSNP:201679687
1341 1341 c, g dbSNP:750589574
1346 1346 c, g dbSNP:544253294
1348 1348 c, t dbSNP:562448833
1353 1353 c, t dbSNP:778722663
1368 1368 c, g dbSNP:532915776
1380 1380 c, t dbSNP:751214516
1394 1394 a, c dbSNP:921970
1402 1402 a, g dbSNP:566510644
1412 1412 a, c dbSNP:553942813
1420 1420 a, g dbSNP:113346552
1457 1457 c, t dbSNP:753020574
1465 1465 c, g dbSNP:756538507
1483 1483 c, g dbSNP:73088173
1513 1513 c, t dbSNP:189926206
1528 1528 c, t dbSNP:777821024
1541 1541 a, g dbSNP:568631025
1580 1580 -, g dbSNP:34503871
1613 1613 g, t dbSNP:535683095
1652 1652 a, g dbSNP:557397340
1661 1661 c, t dbSNP:569267242
1707 1707 c, t dbSNP:527750235
1708 1708 c, t dbSNP:539579069
1716 1716 c, t dbSNP:116778315
1739 1739 -, t dbSNP:35998844
1753 1753 a, g dbSNP:148230498
1809 1809 c, g dbSNP:7586140
1843 1843 c, t dbSNP:560041314
1863 1863 -, t dbSNP:535425478
1883 1883 c, t dbSNP:574138188
1909 1909 c, t dbSNP:141201996
1916 1916 c, t dbSNP:182705203
1920 1920 g, t dbSNP:562571978
1943 1943 a, c dbSNP:577650959
1980 1980 -, ct dbSNP:138962566
1981 1981 -, tc dbSNP:3832106
1983 1983 -, tc dbSNP:397775550
2003 2003 a, g dbSNP:545153045
2020 2020 a, g dbSNP:376822065
2069 2069 a, g dbSNP:746035636
2128 2128 g, t dbSNP:772338538
2138 2138 c, t dbSNP:1052573
2140 2140 c, t dbSNP:560187472
2152 2152 a, g dbSNP:527326155
2166 2166 c, t dbSNP:547275400
2193 2193 a, g dbSNP:562264230
2200 2200 c, t dbSNP:529454300
2201 2201 a, g dbSNP:150674174
2204 2204 a, c, t dbSNP:1052578
2260 2260 a, c dbSNP:539541095
2264 2264 a, c dbSNP:747547213
2284 2284 c, t dbSNP:140903787
2290 2290 c, t dbSNP:373644668
2294 2294 c, g dbSNP:115429065
2300 2300 c, g dbSNP:533807628
2354 2354 a, g dbSNP:555609617
2379 2379 a, g dbSNP:9076
2387 2387 a, g dbSNP:538175773
2420 2420 a, t dbSNP:762512024
2430 2430 a, g dbSNP:765874341
2441 2441 c, g dbSNP:547847157
2443 2443 a, g dbSNP:577960985
2447 2447 c, t dbSNP:144938491
2450 2450 a, c dbSNP:568061770
2487 2487 g, t dbSNP:111979974
2492 2492 a, g dbSNP:533607234
2495 2495 c, t dbSNP:76752438
2496 2496 a, g dbSNP:572024834
2516 2516 a, g dbSNP:112526968
2545 2545 g, t dbSNP:570255660
2575 2575 c, t dbSNP:768691890
2582 2582 c, t dbSNP:542657666
2625 2625 a, g dbSNP:767244509
2741 2741 a, g dbSNP:560971500
2742 2742 c, g dbSNP:147528375
2748 2748 a, t dbSNP:373344102
2749 2749 c, t dbSNP:186603637
2773 2773 c, t dbSNP:562931645
2841 2841 a, c dbSNP:533357370
2851 2851 a, g dbSNP:79061826
2854 2854 c, g dbSNP:752573980
2894 2894 c, g dbSNP:377047810
2913 2913 c, t dbSNP:139873157
2915 2915 c, t dbSNP:3204750
2928 2928 a, g dbSNP:533899847
2940 2940 c, t dbSNP:149972396
2967 2967 a, g dbSNP:145193682
2983 2983 a, c dbSNP:191134306
2996 2996 c, g dbSNP:370159862
3025 3025 c, t dbSNP:58320146
3027 3027 c, t dbSNP:149172912
3046 3046 a, g dbSNP:776243246
3055 3055 a, g dbSNP:539633206
3071 3071 c, t dbSNP:753822442
3076 3076 a, g dbSNP:538841748
3107 3107 -, a dbSNP:572892168
3113 3113 -, c dbSNP:35912779

Target ORF information:

RefSeq Version NM_015488
Organism Homo sapiens (human)
Definition Homo sapiens paroxysmal nonkinesigenic dyskinesia (PNKD), transcript variant 1, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1-C-(k)DYK
NM_015488

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
ATGGCGGCGG TGGTAGCTGC TACGGCGCTG AAGGGCCGGG GGGCGAGAAA TGCCCGCGTC 
CTCCGGGGGA TTCTCGCAGG AGCCACAGCT AACAAGGCTT CTCATAACAG GACCCGGGCC
CTGCAAAGCC ACAGCTCCCC AGAGGGCAAG GAGGAACCTG AACCCCTATC CCCGGAGCTG
GAATACATTC CCAGAAAGAG GGGCAAGAAC CCCATGAAAG CTGTGGGACT GGCCTGGTAC
AGCCTGTACA CCCGCACCTG GCTCGGGTAC CTCTTCTACC GACAGCAGCT GCGCAGGGCT
CGGAATCGCT ACCCTAAAGG CCACTCGAAA ACCCAGCCCC GCCTCTTCAA TGGAGTGAAG
GTGCTTCCCA TCCCTGTCCT CTCGGACAAC TACAGCTACC TCATCATCGA CACCCAGGCC
CAGCTGGCTG TGGCTGTGGA CCCTTCAGAC CCTCGGGCTG TGCAGGCTTC CATTGAAAAG
GAAGGGGTCA CCTTGGTCGC CATTCTGTGT ACTCACAAGC ACTGGGACCA CAGTGGAGGG
AACCGTGACC TCAGCCGGCG GCACCGGGAC TGTCGGGTGT ACGGGAGCCC TCAGGACGGC
ATCCCCTACC TCACCCATCC CCTGTGTCAT CAAGATGTGG TCAGCGTGGG ACGGCTTCAG
ATCCGGGCCC TGGCTACACC TGGCCACACA CAAGGCCATC TGGTCTACCT ACTGGATGGG
GAGCCCTACA AGGGTCCCTC CTGCCTCTTC TCAGGGGACC TGCTCTTCCT CTCTGGCTGT
GGGCGGACCT TTGAGGGCAA TGCAGAGACC ATGCTGAGCT CACTGGACAC TGTGCTGGGG
CTAGGGGATG ACACCCTTCT GTGGCCTGGT CATGAGTATG CAGAGGAGAA CCTGGGCTTT
GCAGGTGTGG TGGAGCCCGA GAACCTGGCC CGGGAGAGGA AGATGCAGTG GGTGCAGCGG
CAGCGGCTGG AGCGCAAGGG CACGTGCCCA TCTACCCTGG GAGAGGAGCG CTCCTACAAC
CCGTTCCTGA GAACCCACTG CCTGGCGCTA CAGGAGGCTC TGGGGCCGGG GCCGGGCCCC
ACTGGGGATG ATGACTACTC CCGGGCCCAG CTCCTGGAAG AGCTCCGCCG GCTGAAGGAT
ATGCACAAGA GCAAGTGA

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


CloneID OHu27071D
Sequence Information ORF Nucleotide Sequence (Length: 429bp)
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 probable hydrolase PNKD isoform 3 precursor
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AF318057.1 and BQ028777.1. On Mar 25, 2010 this sequence version replaced gi:116642884. Summary: This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]. Transcript Variant: This variant (3), alternately referred to as the short form (MR-1S), differs in the 3' UTR and has multiple coding region differences, compared to variant 1. This results in a frameshift in isoform 3, which has a distinct C-terminus and 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. ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## ##Evidence-Data-START## Transcript exon combination :: AF318057.1, BC021118.1 [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
ATGGCGGCGG TGGTAGCTGC TACGGCGCTG AAGGGCCGGG GGGCGAGAAA TGCCCGCGTC 
CTCCGGGGGA TTCTCGCAGG AGCCACAGCT AACAAGGCTT CTCATAACAG GACCCGGGCC
CTGCAAAGCC ACAGCTCCCC AGAGGGCAAG GAGGAACCTG AACCCCTATC CCCGGAGCTG
GAATACATTC CCAGAAAGAG GGGCAAGAAC CCCATGAAAG CTGTGGGACT GGCCTGGGCC
ATCGGCTTCC CTTGTGGTAT CCTCCTCTTC ATCCTCACCA AGCGGGAAGT GGACAAGGAC
CGTGTGAAGC AGATGAAGGC TCGGCAGAAC ATGCGGTTGT CCAACACGGG CGAGTATGAG
AGCCAGAGGT TCAGGGCTTC CTCCCAGAGT GCCCCGTCCC CTGATGTTGG GTCTGGGGTG
CAGACCTGA
The stop codons will be deleted if pcDNA3.1-C-(k)DYK vector is selected.
RefSeqNP_001070867.1
CDS145..573
Misc Feature(1)43..45(+)
Misc Feature(2)505..507(+)
Exon (1)1..211
Gene:PNKD
Gene Synonym:
Exon (2)212..380
Gene:PNKD
Gene Synonym:
Exon (3)381..758
Gene:PNKD
Gene Synonym:
Translation
Position Chain Variation Link
14 14 a, g dbSNP:531036566
16 16 a, g dbSNP:753684702
40 40 a, t dbSNP:183319984
52 52 a, g dbSNP:557382536
80 80 a, g dbSNP:570619432
91 91 c, t dbSNP:534828924
106 106 c, t dbSNP:772861629
127 127 -, g dbSNP:752570447
127 127 c, g dbSNP:746558436
130 130 a, g dbSNP:771466269
138 138 g, t dbSNP:777046045
140 140 c, t dbSNP:552943410
144 144 c, g dbSNP:765614612
146 146 g, t dbSNP:775653461
147 147 a, g dbSNP:568140659
149 149 c, t dbSNP:764107923
150 150 -, atgaa dbSNP:756065510
152 152 -, g dbSNP:145266923
152 152 c, t dbSNP:751631915
164 164 c, t dbSNP:121434512
167 167 a, c, g dbSNP:757350092
168 168 a, g dbSNP:371342116
170 170 c, t dbSNP:121434511
178 178 a, g dbSNP:754755605
179 179 g, t dbSNP:778883254
180 180 c, t dbSNP:747754197
181 181 -, g dbSNP:777779692
196 196 -, c dbSNP:745868117
205 205 c, t dbSNP:758101708
208 208 c, t dbSNP:777330210
213 213 a, g dbSNP:761897018
221 221 c, t dbSNP:767501883
224 224 a, g dbSNP:753771314
227 227 c, g dbSNP:767828489
238 238 a, t dbSNP:759569070
241 241 c, g, t dbSNP:121434513
245 245 a, c dbSNP:146016925
257 257 c, g, t dbSNP:753100961
260 260 c, g dbSNP:367998906
273 273 c, t dbSNP:199629886
276 276 c, t dbSNP:201920487
289 289 -, ggcaa dbSNP:747278532
292 292 a, t dbSNP:780594684
294 294 a, g dbSNP:371649118
309 309 c, t dbSNP:201680473
310 310 c, g dbSNP:780609587
315 315 c, g dbSNP:749642769
317 317 c, t dbSNP:376689739
322 322 c, t dbSNP:774568291
326 326 a, g dbSNP:761975000
327 327 a, g dbSNP:201211394
328 328 c, t dbSNP:772142996
331 331 a, g dbSNP:564321930
333 333 c, t dbSNP:146100906
341 341 -, ag dbSNP:768975350
348 348 c, t dbSNP:765261684
374 374 c, t dbSNP:752738498
378 378 c, t dbSNP:372581982
381 381 -, ggccatc dbSNP:748528413
382 382 c, g dbSNP:773991347
388 388 a, g dbSNP:201563594
390 390 c, t dbSNP:767068612
393 393 c, t dbSNP:750094147
396 396 a, t dbSNP:755558435
403 403 a, t dbSNP:765907431
404 404 c, t dbSNP:754296379
406 406 c, g dbSNP:755420307
412 412 g, t dbSNP:779516096
427 427 c, t dbSNP:748457296
428 428 a, g dbSNP:201798895
429 429 a, g dbSNP:201303528
438 438 c, g dbSNP:747237517
440 440 a, g dbSNP:200354335
444 444 c, t dbSNP:771092959
447 447 c, t dbSNP:567480575
456 456 a, g dbSNP:746004925
463 463 a, g, t dbSNP:768442818
464 464 c, t dbSNP:761460268
466 466 c, t dbSNP:767306596
472 472 a, g dbSNP:368057258
475 475 a, t dbSNP:760344888
478 478 c, t dbSNP:199646553
479 479 a, g dbSNP:753316538
484 484 c, t dbSNP:537526227
488 488 a, g dbSNP:764613531
492 492 a, g dbSNP:753260557
495 495 a, c, t dbSNP:758621637
496 496 a, g dbSNP:556237248
497 497 a, c dbSNP:757527594
502 502 -, ga dbSNP:770222818
505 505 a, c dbSNP:781601485
506 506 a, g dbSNP:570881931
507 507 c, t dbSNP:370548811
528 528 c, t dbSNP:778653174
531 531 g, t dbSNP:748151319
538 538 a, c, t dbSNP:754380259
539 539 c, t dbSNP:190517400
540 540 a, g dbSNP:148049021
545 545 c, g dbSNP:776403372
554 554 -, gtctggggt dbSNP:773836379
556 556 a, t dbSNP:758910895
557 557 a, g dbSNP:11542694
558 558 c, t dbSNP:764807276
572 572 a, g dbSNP:753102678
579 579 a, g dbSNP:573190186
583 583 c, t dbSNP:764744526
584 584 a, g dbSNP:141629745
587 587 c, t dbSNP:757760245
591 591 c, g dbSNP:781511482
595 595 a, g dbSNP:377108117
599 599 c, t dbSNP:368367765
603 603 -, t dbSNP:762357362
606 606 c, t dbSNP:780208592
607 607 -, a dbSNP:778499168
612 612 c, t dbSNP:565674322
615 615 -, a dbSNP:773846161
618 618 a, g dbSNP:749378016
624 624 c, t dbSNP:771968253
626 626 -, ca dbSNP:547448826
630 630 c, t dbSNP:574192324
639 639 a, g dbSNP:369843065
645 645 c, t dbSNP:1045663
649 649 a, g dbSNP:544351102
663 663 c, g dbSNP:1045673
682 682 a, t dbSNP:11114
686 686 a, g dbSNP:751019194
689 689 c, t dbSNP:754604195
696 696 c, t dbSNP:563005414

Target ORF information:

RefSeq Version NM_001077399
Organism Homo sapiens (human)
Definition Homo sapiens paroxysmal nonkinesigenic dyskinesia (PNKD), transcript variant 3, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1-C-(k)DYK
NM_001077399

ORF Insert Sequence:

1
61
121
181
241
301
361
421
ATGGCGGCGG TGGTAGCTGC TACGGCGCTG AAGGGCCGGG GGGCGAGAAA TGCCCGCGTC 
CTCCGGGGGA TTCTCGCAGG AGCCACAGCT AACAAGGCTT CTCATAACAG GACCCGGGCC
CTGCAAAGCC ACAGCTCCCC AGAGGGCAAG GAGGAACCTG AACCCCTATC CCCGGAGCTG
GAATACATTC CCAGAAAGAG GGGCAAGAAC CCCATGAAAG CTGTGGGACT GGCCTGGGCC
ATCGGCTTCC CTTGTGGTAT CCTCCTCTTC ATCCTCACCA AGCGGGAAGT GGACAAGGAC
CGTGTGAAGC AGATGAAGGC TCGGCAGAAC ATGCGGTTGT CCAACACGGG CGAGTATGAG
AGCCAGAGGT TCAGGGCTTC CTCCCAGAGT GCCCCGTCCC CTGATGTTGG GTCTGGGGTG
CAGACCTGA

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