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PTS 6-pyruvoyltetrahydropterin synthase [Homo sapiens (human)]

Gene Symbol PTS
Entrez Gene ID 5805
Full Name 6-pyruvoyltetrahydropterin synthase
Synonyms PTPS
General protein information
Preferred Names
6-pyruvoyl tetrahydrobiopterin synthase
Names
6-pyruvoyl tetrahydrobiopterin synthase
PTP synthase
NP_000308.1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

11

11q22.3

Summary The enzyme encoded by this gene catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as BH(4), is an essential cofactor and regulator of various enzyme activities, including enzymes involved in serotonin biosynthesis and NO synthase activity. Mutations in this gene result in hyperphenylalaninemia. [provided by RefSeq, Oct 2008]. lac of sum
Disorder MIM:

612719

Disorder Html: Hyperphenylalaninemia, BH4-deficient, A, 261640 (3)





The following PTS gene sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the PTS 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
OHu60124 XM_011542943 PREDICTED: Homo sapiens 6-pyruvoyltetrahydropterin synthase (PTS), transcript variant X1, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 7-9 $99
OHu19651 NM_000317 Homo sapiens 6-pyruvoyltetrahydropterin synthase (PTS), mRNA. pcDNA3.1+/C-(K)DYK or customized vector 5-7 $99

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


CloneID OHu60124
Accession Version XM_011542943.1
Sequence Information ORF Nucleotide Sequence (Length: 399bp)
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 12-MAR-2015
Organism Homo sapiens (human)
Product 6-pyruvoyl tetrahydrobiopterin synthase isoform X1
Comment MODEL REFSEQ: This record is predicted by automated computational analysis. This record is derived from a genomic sequence (NT_033899.9) annotated using gene prediction method: Gnomon, supported by EST evidence. Also see: Documentation of NCBI's Annotation Process ##Genome-Annotation-Data-START## Annotation Provider :: NCBI Annotation Status :: Full annotation Annotation Version :: Homo sapiens Annotation Release 107 Annotation Pipeline :: NCBI eukaryotic genome annotation pipeline Annotation Software Version :: 6.2 Annotation Method :: Best-placed RefSeq; Gnomon Features Annotated :: Gene; mRNA; CDS; ncRNA ##Genome-Annotation-Data-END##

1
61
121
181
241
301
361
ATGTGTAAAG CACTGATAAA GTTTTTTTTT GTTGTTGTTG TTTTTTTTTT TGAGATGGAG 
TTCCACTCTT TTTGCCCAGG CTGGAATGGT GTGATCTCCC GTCACTACAA CCTCCACCTC
CCAGTTGTGG TGACAGTACA TGGAGAGATT GACCCTGCTA CGGGAATGGT TATGAATCTG
GCTGATCTCA AAAAATATAT GGAGGAGGCG ATTATGCAGC CCCTTGATCA TAAGAATCTG
GATATGGATG TGCCATACTT TGCAGATGTG GTGAGCACGA CTGAAAATGT AGCTGTTTAT
ATCTGGGACA ACCTCCAGAA AGTTCTTCCT GTAGGAGTTC TTTATAAAGT AAAAGTATAC
GAAACTGACA ATAATATTGT GGTTTATAAA GGAGAATAG
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeqXP_011541245.1
CDS684..1082
Misc Feature(1)807..1079(+)
Misc Feature(2)807..1079(+)
Misc Feature(3)1044..1064(+)
Translation
Position Chain Variation Link
8 8 c, t dbSNP:3819331
9 9 a, g dbSNP:369552465
15 15 a, c dbSNP:773808952
22 22 c, t dbSNP:763446744
27 27 c, t dbSNP:771466821
28 28 a, c dbSNP:774752201
29 29 a, g dbSNP:200498089
38 38 -, aa dbSNP:769124108
39 39 a, g dbSNP:763794863
43 43 a, g dbSNP:373958715
45 45 a, t dbSNP:568577892
82 82 c, t dbSNP:750691729
89 89 a, g dbSNP:535861858
115 115 a, g dbSNP:116259285
127 127 a, g dbSNP:184830375
135 135 g, t dbSNP:187302071
210 210 a, g dbSNP:75275475
249 249 a, g dbSNP:561520529
260 260 a, g dbSNP:183953417
279 279 a, g dbSNP:541289667
348 348 c, t dbSNP:561040642
351 351 c, g dbSNP:530074570
438 438 -, g dbSNP:572521174
439 439 a, gt dbSNP:372961849
439 439 a, t dbSNP:550201823
465 465 c, t dbSNP:563768483
492 492 c, t dbSNP:532694806
493 493 g, t dbSNP:189886738
495 495 a, g dbSNP:529650855
500 500 a, g dbSNP:534929240
511 511 c, t dbSNP:761464318
525 525 -, t dbSNP:761684159
527 527 a, t dbSNP:548830524
566 566 a, g dbSNP:568426107
581 581 c, t dbSNP:530744503
593 593 c, t dbSNP:139438091
594 594 a, g dbSNP:555790902
611 611 a, g dbSNP:778252383
630 630 a, g dbSNP:747612627
665 665 a, g dbSNP:767375083
704 704 -, t dbSNP:200372044
711 711 g, t dbSNP:777348207
712 712 -, ttg dbSNP:201365973
713 713 g, t dbSNP:78055963
714 714 g, t dbSNP:548121779
726 726 g, t dbSNP:180687182
734 734 g, t dbSNP:78733401
740 740 a, g dbSNP:558389414
747 747 c, t dbSNP:746668080
762 762 g, t dbSNP:770625840
767 767 g, t dbSNP:563962784
770 770 c, t dbSNP:760697976
784 784 a, g dbSNP:184562790
795 795 c, g dbSNP:769732942
804 804 c, t dbSNP:546570749
810 810 -, gtg dbSNP:770387277
810 810 a, c, g dbSNP:104894277
818 818 a, g dbSNP:745627441
830 830 a, g dbSNP:189051075
831 831 a, g dbSNP:778053171
833 833 c, t dbSNP:749370466
836 836 c, t dbSNP:201156784
839 839 c, t dbSNP:143472856
844 844 c, t dbSNP:370340361
845 845 a, g dbSNP:768800310
856 856 g, t dbSNP:775685351
860 860 c, t dbSNP:200279736
861 861 a, c dbSNP:199748848
866 866 c, t dbSNP:201388369
867 867 g, t dbSNP:375003976
872 872 a, c, t dbSNP:772713545
881 881 c, t dbSNP:766251710
886 886 a, c dbSNP:774307168
889 889 a, g dbSNP:778932353
892 892 c, t dbSNP:775426269
893 893 a, g dbSNP:760485224
895 895 c, t dbSNP:764431860
903 903 -, c dbSNP:775074473
903 903 c, g, t dbSNP:104894276
904 904 c, t dbSNP:765406631
916 916 a, g dbSNP:761285716
930 930 a, g dbSNP:104894280
933 933 a, g dbSNP:750455879
937 937 c, t dbSNP:748040027
941 941 a, c dbSNP:145882709
953 953 -, g dbSNP:760367538
953 953 g, t dbSNP:11541630
956 956 a, g dbSNP:148185068
961 961 c, t dbSNP:200712908
962 962 a, g dbSNP:568878711
971 971 c, t dbSNP:750529904
982 982 a, g dbSNP:762894736
986 986 c, g dbSNP:17851590
991 991 a, g dbSNP:104894279
998 998 a, c dbSNP:766905534
1008 1008 c, t dbSNP:372196281
1011 1011 c, t dbSNP:141163668
1014 1014 g, t dbSNP:150726932
1015 1015 c, t dbSNP:767930539
1016 1016 a, t dbSNP:139969809
1027 1027 a, g dbSNP:756942862
1034 1034 -, a dbSNP:780332520
1038 1038 c, g dbSNP:778375285
1040 1040 a, g dbSNP:745409003
1043 1043 c, t dbSNP:199603175
1044 1044 a, g dbSNP:779681799
1046 1046 a, g dbSNP:746993982
1049 1049 c, t dbSNP:59731976
1052 1052 c, t dbSNP:776555700
1064 1064 g, t dbSNP:146364246
1070 1070 a, t dbSNP:770076475
1079 1079 a, g dbSNP:773265543
1087 1087 g, t dbSNP:374835803
1091 1091 a, g dbSNP:766492735
1093 1093 g, t dbSNP:774398414
1098 1098 c, t dbSNP:760097954
1103 1103 c, t dbSNP:767940661
1109 1109 a, c dbSNP:753123395
1120 1120 c, g, t dbSNP:200010468
1142 1142 -, c dbSNP:35196884
1142 1142 c, t dbSNP:149320135
1142 1142 -, t dbSNP:112454369
1178 1178 g, t dbSNP:3211484
1182 1182 c, t dbSNP:554390846
1266 1266 c, g dbSNP:574364346
1280 1280 g, t dbSNP:763246774
1286 1286 a, c dbSNP:764447864
1333 1333 a, c dbSNP:1126546
1372 1372 a, g dbSNP:543375189
1430 1430 c, t dbSNP:556908337
1458 1458 a, g dbSNP:575268188
1473 1473 -, aaag dbSNP:201791923
1481 1481 a, g dbSNP:191597540
1491 1491 g, t dbSNP:762289749
1496 1496 a, g dbSNP:564019567
1498 1498 a, c dbSNP:577889332

Target ORF information:

RefSeq Version XM_011542943
Organism Homo sapiens (human)
Definition PREDICTED: Homo sapiens 6-pyruvoyltetrahydropterin synthase (PTS), transcript variant X1, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
XM_011542943

ORF Insert Sequence:

1
61
121
181
241
301
361
ATGTGTAAAG CACTGATAAA GTTTTTTTTT GTTGTTGTTG TTTTTTTTTT TGAGATGGAG 
TTCCACTCTT TTTGCCCAGG CTGGAATGGT GTGATCTCCC GTCACTACAA CCTCCACCTC
CCAGTTGTGG TGACAGTACA TGGAGAGATT GACCCTGCTA CGGGAATGGT TATGAATCTG
GCTGATCTCA AAAAATATAT GGAGGAGGCG ATTATGCAGC CCCTTGATCA TAAGAATCTG
GATATGGATG TGCCATACTT TGCAGATGTG GTGAGCACGA CTGAAAATGT AGCTGTTTAT
ATCTGGGACA ACCTCCAGAA AGTTCTTCCT GTAGGAGTTC TTTATAAAGT AAAAGTATAC
GAAACTGACA ATAATATTGT GGTTTATAAA GGAGAATAG

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

CloneID OHu19651
Accession Version NM_000317.2
Sequence Information ORF Nucleotide Sequence (Length: 438bp)
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 6-pyruvoyl tetrahydrobiopterin synthase
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AP002884.5, BC009686.1 and CF529329.1. This sequence is a reference standard in the RefSeqGene project. On Jan 12, 2008 this sequence version replaced gi:4506330. Summary: The enzyme encoded by this gene catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as BH(4), is an essential cofactor and regulator of various enzyme activities, including enzymes involved in serotonin biosynthesis and NO synthase activity. Mutations in this gene result in hyperphenylalaninemia. [provided by RefSeq, Oct 2008]. 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 :: BG505490.1, BU596124.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
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241
301
361
421
ATGAGCACGG AAGGTGGTGG CCGTCGCTGC CAGGCACAAG TGTCCCGCCG CATCTCCTTC 
AGCGCGAGCC ACCGATTGTA CAGTAAATTT CTAAGTGATG AAGAAAACTT GAAACTGTTT
GGGAAATGCA ACAATCCAAA TGGCCATGGG CACAATTATA AAGTTGTGGT GACAGTACAT
GGAGAGATTG ACCCTGCTAC GGGAATGGTT ATGAATCTGG CTGATCTCAA AAAATATATG
GAGGAGGCGA TTATGCAGCC CCTTGATCAT AAGAATCTGG ATATGGATGT GCCATACTTT
GCAGATGTGG TGAGCACGAC TGAAAATGTA GCTGTTTATA TCTGGGACAA CCTCCAGAAA
GTTCTTCCTG TAGGAGTTCT TTATAAAGTA AAAGTATACG AAACTGACAA TAATATTGTG
GTTTATAAAG GAGAATAG
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeqNP_000308.1
CDS80..517
Misc Feature(1)110..514(+)
Misc Feature(2)110..511(+)
Misc Feature(3)116..508(+)
Misc Feature(4)119..514(+)
Misc Feature(5)134..136(+)
Misc Feature(6)134..136(+)
Misc Feature(7)134..136(+)
Misc Feature(8)149..403(+)
Exon (1)1..162
Gene:PTS
Gene Synonym:
Exon (2)163..242
Gene:PTS
Gene Synonym:
Exon (3)243..265
Gene:PTS
Gene Synonym:
Exon (4)266..322
Gene:PTS
Gene Synonym:
Exon (5)323..393
Gene:PTS
Gene Synonym:
Exon (6)394..935
Gene:PTS
Gene Synonym:
Translation
Position Chain Variation Link
13 13 c, t dbSNP:556846787
24 24 a, g dbSNP:781729397
26 26 c, t dbSNP:576852400
29 29 c, t dbSNP:746358517
30 30 c, t dbSNP:544216306
35 35 a, g dbSNP:773128820
43 43 a, g dbSNP:761807215
46 46 g, t dbSNP:564103027
49 49 c, t dbSNP:774510674
50 50 c, t dbSNP:759639853
53 53 a, c dbSNP:767619337
54 54 c, g dbSNP:371987982
57 57 c, g dbSNP:377086462
68 68 a, g dbSNP:201697689
70 70 a, c dbSNP:754233241
71 71 a, g, t dbSNP:532103622
73 73 c, t dbSNP:751297504
74 74 a, g dbSNP:369790584
93 93 a, g dbSNP:780908884
96 96 g, t dbSNP:138154701
124 124 c, t dbSNP:756084052
125 125 c, t dbSNP:104894274
133 133 c, g dbSNP:749133827
151 151 c, g dbSNP:770588896
152 152 -, gat, gatt dbSNP:765777664
153 153 a, g dbSNP:104894273
162 162 a, g dbSNP:774097921
170 170 c, t dbSNP:780189909
173 173 a, c dbSNP:747134219
174 174 a, g dbSNP:374871539
177 177 a, t dbSNP:201575138
190 190 g, t dbSNP:762285707
195 195 -, tgtt dbSNP:747260038
199 199 c, t dbSNP:770422490
200 200 a, g dbSNP:372852903
206 206 g, t dbSNP:763354378
208 208 c, t dbSNP:767304795
210 210 a, g, t dbSNP:566233351
211 211 c, t dbSNP:763556416
213 213 a, g dbSNP:753372875
218 218 a, g dbSNP:104894278
220 220 c, t dbSNP:757205422
223 223 c, t dbSNP:778754646
225 225 a, g, t dbSNP:750229518
230 230 c, t dbSNP:780284884
232 232 c, t dbSNP:747245062
234 234 a, g dbSNP:104894275
238 238 c, t dbSNP:781197929
242 242 a, g dbSNP:759815124
245 245 -, gtg dbSNP:770387277
245 245 a, c, g dbSNP:104894277
253 253 a, g dbSNP:745627441
265 265 a, g dbSNP:189051075
266 266 a, g dbSNP:778053171
268 268 c, t dbSNP:749370466
271 271 c, t dbSNP:201156784
274 274 c, t dbSNP:143472856
279 279 c, t dbSNP:370340361
280 280 a, g dbSNP:768800310
291 291 g, t dbSNP:775685351
295 295 c, t dbSNP:200279736
296 296 a, c dbSNP:199748848
301 301 c, t dbSNP:201388369
302 302 g, t dbSNP:375003976
307 307 a, c, t dbSNP:772713545
316 316 c, t dbSNP:766251710
321 321 a, c dbSNP:774307168
324 324 a, g dbSNP:778932353
327 327 c, t dbSNP:775426269
328 328 a, g dbSNP:760485224
330 330 c, t dbSNP:764431860
338 338 -, c dbSNP:775074473
338 338 c, g, t dbSNP:104894276
339 339 c, t dbSNP:765406631
351 351 a, g dbSNP:761285716
365 365 a, g dbSNP:104894280
368 368 a, g dbSNP:750455879
372 372 c, t dbSNP:748040027
376 376 a, c dbSNP:145882709
388 388 -, g dbSNP:760367538
388 388 g, t dbSNP:11541630
391 391 a, g dbSNP:148185068
396 396 c, t dbSNP:200712908
397 397 a, g dbSNP:568878711
406 406 c, t dbSNP:750529904
417 417 a, g dbSNP:762894736
421 421 c, g dbSNP:17851590
426 426 a, g dbSNP:104894279
433 433 a, c dbSNP:766905534
443 443 c, t dbSNP:372196281
446 446 c, t dbSNP:141163668
449 449 g, t dbSNP:150726932
450 450 c, t dbSNP:767930539
451 451 a, t dbSNP:139969809
462 462 a, g dbSNP:756942862
469 469 -, a dbSNP:780332520
473 473 c, g dbSNP:778375285
475 475 a, g dbSNP:745409003
478 478 c, t dbSNP:199603175
479 479 a, g dbSNP:779681799
481 481 a, g dbSNP:746993982
484 484 c, t dbSNP:59731976
487 487 c, t dbSNP:776555700
499 499 g, t dbSNP:146364246
505 505 a, t dbSNP:770076475
514 514 a, g dbSNP:773265543
522 522 g, t dbSNP:374835803
526 526 a, g dbSNP:766492735
528 528 g, t dbSNP:774398414
533 533 c, t dbSNP:760097954
538 538 c, t dbSNP:767940661
544 544 a, c dbSNP:753123395
555 555 c, g, t dbSNP:200010468
577 577 -, c dbSNP:35196884
577 577 c, t dbSNP:149320135
577 577 -, t dbSNP:112454369
613 613 g, t dbSNP:3211484
617 617 c, t dbSNP:554390846
701 701 c, g dbSNP:574364346
715 715 g, t dbSNP:763246774
721 721 a, c dbSNP:764447864
768 768 a, c dbSNP:1126546
807 807 a, g dbSNP:543375189
865 865 c, t dbSNP:556908337
893 893 a, g dbSNP:575268188
908 908 -, aaag dbSNP:201791923
916 916 a, g dbSNP:191597540
926 926 g, t dbSNP:762289749
931 931 a, g dbSNP:564019567
933 933 a, c dbSNP:577889332

Target ORF information:

RefSeq Version NM_000317
Organism Homo sapiens (human)
Definition Homo sapiens 6-pyruvoyltetrahydropterin synthase (PTS), mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_000317

ORF Insert Sequence:

1
61
121
181
241
301
361
421
ATGAGCACGG AAGGTGGTGG CCGTCGCTGC CAGGCACAAG TGTCCCGCCG CATCTCCTTC 
AGCGCGAGCC ACCGATTGTA CAGTAAATTT CTAAGTGATG AAGAAAACTT GAAACTGTTT
GGGAAATGCA ACAATCCAAA TGGCCATGGG CACAATTATA AAGTTGTGGT GACAGTACAT
GGAGAGATTG ACCCTGCTAC GGGAATGGTT ATGAATCTGG CTGATCTCAA AAAATATATG
GAGGAGGCGA TTATGCAGCC CCTTGATCAT AAGAATCTGG ATATGGATGT GCCATACTTT
GCAGATGTGG TGAGCACGAC TGAAAATGTA GCTGTTTATA TCTGGGACAA CCTCCAGAAA
GTTCTTCCTG TAGGAGTTCT TTATAAAGTA AAAGTATACG AAACTGACAA TAATATTGTG
GTTTATAAAG GAGAATAG

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