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PNP purine nucleoside phosphorylase [Homo sapiens (human)]

Gene Symbol PNP
Entrez Gene ID 4860
Full Name purine nucleoside phosphorylase
Synonyms NP, PRO1837, PUNP
General protein information
Preferred Names
purine nucleoside phosphorylase
Names
purine nucleoside phosphorylase
inosine phosphorylase
inosine-guanosine phosphorylase
purine-nucleoside:orthophosphate ribosyltransferase
NP_000261.2
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

14

14q13.1

Summary This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside phosphorylase deficiency result in defective T-cell (cell-mediated) immunity but can also affect B-cell immunity and antibody responses. Neurologic disorders may also be apparent in patients with immune defects. A known polymorphism at aa position 51 that does not affect enzyme activity has been described. A pseudogene has been identified on chromosome 2. [provided by RefSeq, Jul 2008]. lac of sum
Disorder MIM:

164050

Disorder Html: Immunodeficiency due to purine nucleoside phosphorylase deficiency,





The following PNP gene sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the PNP 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
OHu22260 NM_000270 Homo sapiens purine nucleoside phosphorylase (PNP), mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$199

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


CloneID OHu22260
Accession Version NM_000270.3 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 870bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector Document: User manual_GenEZ ORF Clone Products.pdf (pdf)
Clone information Clone Map
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags Document: MSDS_GenEZ ORF Clone Products.pdf (pdf)
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear Document: OHu22260D_COA.pdf (pdf)
Update Date 15-MAR-2015
Organism Homo sapiens (human)
Product purine nucleoside phosphorylase
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BM193354.1, BC106074.1, AL355075.6 and BU622706.1. This sequence is a reference standard in the RefSeqGene project. On Dec 5, 2009 this sequence version replaced gi:157168361. Summary: This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside phosphorylase deficiency result in defective T-cell (cell-mediated) immunity but can also affect B-cell immunity and antibody responses. Neurologic disorders may also be apparent in patients with immune defects. A known polymorphism at aa position 51 that does not affect enzyme activity has been described. A pseudogene has been identified on chromosome 2. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. 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 :: BC106074.1, EU794649.1 [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
ATGGAGAACG GATACACCTA TGAAGATTAT AAGAACACTG CAGAATGGCT TCTGTCTCAC 
ACTAAGCACC GACCTCAAGT TGCAATAATC TGTGGTTCTG GATTAGGAGG TCTGACTGAT
AAATTAACTC AGGCCCAGAT CTTTGACTAC GGTGAAATCC CCAACTTTCC CCGAAGTACA
GTGCCAGGTC ATGCTGGCCG ACTGGTGTTT GGGTTCCTGA ATGGCAGGGC CTGTGTGATG
ATGCAGGGCA GGTTCCACAT GTATGAAGGG TACCCACTCT GGAAGGTGAC ATTCCCAGTG
AGGGTTTTCC ACCTTCTGGG TGTGGACACC CTGGTAGTCA CCAATGCAGC AGGAGGGCTG
AACCCCAAGT TTGAGGTTGG AGATATCATG CTGATCCGTG ACCATATCAA CCTACCTGGT
TTCAGTGGTC AGAACCCTCT CAGAGGGCCC AATGATGAAA GGTTTGGAGA TCGTTTCCCT
GCCATGTCTG ATGCCTACGA CCGGACTATG AGGCAGAGGG CTCTCAGTAC CTGGAAACAA
ATGGGGGAGC AACGTGAGCT ACAGGAAGGC ACCTATGTGA TGGTGGCAGG CCCCAGCTTT
GAGACTGTGG CAGAATGTCG TGTGCTGCAG AAGCTGGGAG CAGACGCTGT TGGCATGAGT
ACAGTACCAG AAGTTATCGT TGCACGGCAC TGTGGACTTC GAGTCTTTGG CTTCTCACTC
ATCACTAACA AGGTCATCAT GGATTATGAA AGCCTGGAGA AGGCCAACCA TGAAGAAGTC
TTAGCAGCTG GCAAACAAGC TGCACAGAAA TTGGAACAGT TTGTCTCCAT TCTTATGGCC
AGCATTCCAC TCCCTGACAA AGCCAGTTGA
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeqNP_000261.2
CDS147..1016
Misc Feature(1)69..71(+)
Misc Feature(2)147..149(+)
Misc Feature(3)180..992(+)
Misc Feature(4)222..986(+)
Exon (1)1..157
Gene:PNP
Gene Synonym:
Exon (2)158..327
Gene:PNP
Gene Synonym:
Exon (3)328..431
Gene:PNP
Gene Synonym:
Exon (4)432..607
Gene:PNP
Gene Synonym:
Exon (5)608..798
Gene:PNP
Gene Synonym:
Exon (6)799..2421
Gene:PNP
Gene Synonym:
Translation
Position Chain Variation Link
18 18 a, c, g dbSNP:774843185
35 35 c, t dbSNP:547269295
51 51 a, g dbSNP:17881206
56 56 g, t dbSNP:115464597
64 64 c, g dbSNP:113248050
65 65 a, g dbSNP:533006047
67 67 c, t dbSNP:551443910
73 73 a, g dbSNP:569693952
103 103 a, g dbSNP:773216716
125 125 a, t dbSNP:749114390
126 126 c, t dbSNP:770789887
127 127 a, g dbSNP:774237993
133 133 a, g dbSNP:759382900
134 134 c, t dbSNP:371285226
140 140 a, c dbSNP:775847274
143 143 g, t dbSNP:537049507
146 146 c, t dbSNP:760861898
156 156 c, g dbSNP:764019813
159 159 c, t dbSNP:200560458
161 161 c, t dbSNP:750917143
162 162 a, c dbSNP:763321970
164 164 c, t dbSNP:766666393
171 171 g, t dbSNP:752428463
177 177 a, c dbSNP:755671892
182 182 c, t dbSNP:147041973
183 183 a, g dbSNP:753327636
206 206 c, t dbSNP:1049562
208 208 c, t dbSNP:779046798
209 209 g, t dbSNP:770202045
216 216 c, t dbSNP:104894455
225 225 a, g dbSNP:771994250
231 231 a, g, t dbSNP:779670793
295 295 a, g dbSNP:768802856
296 296 c, t dbSNP:776910388
297 297 a, g dbSNP:1049564
305 305 a, c dbSNP:367991537
310 310 a, g dbSNP:776206136
317 317 c, t dbSNP:1130650
318 318 c, t dbSNP:104894460
319 319 a, g dbSNP:199763463
325 325 -, aggta dbSNP:760446975
326 326 a, g dbSNP:774626138
330 330 a, c dbSNP:757981003
338 338 c, t dbSNP:766288557
344 344 a, c dbSNP:751459955
345 345 a, c dbSNP:754734713
346 346 a, g dbSNP:372793308
352 352 c, t dbSNP:748393386
369 369 c, g dbSNP:756374794
370 370 a, g dbSNP:777938899
376 376 c, g dbSNP:749436187
389 389 g, t dbSNP:771029199
392 392 a, g dbSNP:779297442
406 406 g, t dbSNP:746316064
411 411 a, g dbSNP:104894453
414 414 a, g dbSNP:775945427
425 425 c, t dbSNP:761092577
431 431 c, g dbSNP:769639783
434 434 a, g dbSNP:750585123
441 441 c, t dbSNP:568276040
444 444 a, g dbSNP:780722934
446 446 c, g dbSNP:747456588
460 460 c, t dbSNP:755425205
466 466 a, g dbSNP:781649932
475 475 a, c dbSNP:148349782
479 479 a, g dbSNP:770659241
480 480 a, g dbSNP:773868604
483 483 a, g dbSNP:745437851
517 517 g, t dbSNP:771508540
521 521 a, g dbSNP:775406321
528 528 g, t dbSNP:760565729
529 529 a, g dbSNP:104894450
537 537 c, t dbSNP:763897658
543 543 c, t dbSNP:776537078
544 544 a, g dbSNP:761480383
549 549 c, t dbSNP:765555618
551 551 c, t dbSNP:143595260
553 553 c, t dbSNP:758510129
556 556 a, g dbSNP:766527065
558 558 c, t dbSNP:752139195
571 571 c, g dbSNP:755594462
573 573 g, t dbSNP:374377455
582 582 a, c, g dbSNP:748615505
593 593 a, g dbSNP:200861403
598 598 a, g dbSNP:553936447
599 599 c, t dbSNP:771602232
606 606 a, t dbSNP:774931596
613 613 c, g dbSNP:372581539
615 615 a, g dbSNP:141543277
618 618 c, t dbSNP:769652649
628 628 c, t dbSNP:150531909
630 630 a, g dbSNP:762814255
636 636 a, g dbSNP:771348622
637 637 a, g dbSNP:774704206
638 638 c, t dbSNP:759699687
640 640 a, c dbSNP:767426433
644 644 c, t dbSNP:535056271
648 648 c, t dbSNP:544510557
649 649 a, g dbSNP:376788669
654 654 a, c dbSNP:369994873
658 658 -, g dbSNP:755340747
664 664 g, t dbSNP:754239313
666 666 c, g, t dbSNP:104894454
668 668 a, t dbSNP:17881554
671 671 c, g dbSNP:779697422
677 677 c, t dbSNP:751146711
689 689 c, g, t dbSNP:145773529
699 699 a, c, t dbSNP:373569964
701 701 g, t dbSNP:560419576
704 704 a, c, g dbSNP:749155712
708 708 c, g dbSNP:774716342
711 711 a, g dbSNP:753713679
714 714 a, g dbSNP:759788618
715 715 a, c, g dbSNP:772212348
721 721 a, g dbSNP:104894452
730 730 c, t dbSNP:760776000
740 740 c, t dbSNP:764574203
754 754 c, t dbSNP:777107081
766 766 a, g dbSNP:201501535
781 781 c, t dbSNP:765547179
782 782 g, t dbSNP:751236364
787 787 a, c dbSNP:376839639
788 788 a, g dbSNP:767172341
791 791 c, t dbSNP:369193020
792 792 a, g dbSNP:755640590
793 793 c, t dbSNP:777868500
794 794 g, t dbSNP:749169241
795 795 a, g dbSNP:138702206
797 797 c, t dbSNP:200790798
808 808 c, t dbSNP:551176074
811 811 a, t dbSNP:745716644
815 815 a, g dbSNP:758196911
819 819 a, g dbSNP:780151852
824 824 c, t dbSNP:563086985
825 825 a, g dbSNP:61755047
831 831 c, t dbSNP:139364283
832 832 a, g dbSNP:748196799
839 839 g, t dbSNP:149957827
844 844 a, t dbSNP:770355699
847 847 a, c, g dbSNP:104894451
848 848 a, g dbSNP:771263911
864 864 c, t dbSNP:775032909
875 875 c, t dbSNP:371184527
879 879 c, g dbSNP:763812491
881 881 a, c dbSNP:753438749
882 882 a, g dbSNP:761403833
883 883 c, t dbSNP:375159414
887 887 a, g dbSNP:750316115
902 902 a, g dbSNP:758159693
916 916 a, g dbSNP:779851923
926 926 a, c dbSNP:368488127
953 953 g, t dbSNP:755234109
961 961 a, g dbSNP:773751064
965 965 a, g dbSNP:748289161
966 966 c, t dbSNP:748702029
986 986 c, t dbSNP:370513543
1017 1017 a, c dbSNP:778150398
1026 1026 g, t dbSNP:749760621
1027 1027 a, t dbSNP:771220552
1030 1030 c, t dbSNP:375289878
1031 1031 a, g dbSNP:201497504
1033 1033 c, t dbSNP:768488828
1047 1047 a, g dbSNP:776408969
1048 1048 c, t dbSNP:761420050
1053 1053 c, t dbSNP:367615281
1054 1054 c, g dbSNP:371711940
1067 1067 a, c dbSNP:372200673
1069 1069 a, c dbSNP:535741893
1094 1094 c, t dbSNP:569036203
1096 1096 a, t dbSNP:766791132
1116 1116 a, g dbSNP:772541140
1145 1145 c, t dbSNP:566125117
1150 1150 c, g dbSNP:754229427
1155 1155 c, t dbSNP:754595756
1158 1158 c, g dbSNP:764882608
1194 1194 c, t dbSNP:76571622
1229 1229 c, g dbSNP:151283499
1241 1241 a, g dbSNP:111742618
1251 1251 a, g dbSNP:182309640
1270 1270 c, t dbSNP:7785
1290 1290 c, t dbSNP:555762832
1296 1296 c, t dbSNP:139143167
1297 1297 c, t dbSNP:112999633
1333 1333 a, g dbSNP:747293719
1351 1351 c, t dbSNP:374918316
1363 1363 c, g dbSNP:540948092
1388 1388 a, g, t dbSNP:149943917
1393 1393 g, t dbSNP:557920251
1410 1410 c, t dbSNP:1049700
1443 1443 a, g dbSNP:577756245
1499 1499 a, c dbSNP:186060210
1505 1505 c, t dbSNP:147629522
1519 1519 -, gtaacttg dbSNP:566633953
1537 1537 c, g dbSNP:746990229
1540 1540 -, g dbSNP:35139440
1553 1553 c, t dbSNP:142286450
1563 1563 a, g dbSNP:542330479
1583 1583 c, t dbSNP:145734715
1611 1611 c, t dbSNP:17878900
1653 1653 a, g dbSNP:547762051
1693 1693 -, taa dbSNP:773200793
1744 1744 c, t dbSNP:1760933
1745 1745 a, g dbSNP:768784083
1756 1756 a, c dbSNP:574195266
1803 1803 c, g, t dbSNP:147765009
1811 1811 a, c dbSNP:551961994
1815 1815 a, g dbSNP:61013934
1822 1822 a, c dbSNP:537513492
1827 1827 a, g dbSNP:17883795
1832 1832 c, t dbSNP:79538439
1834 1834 c, t dbSNP:772191028
1841 1841 c, t dbSNP:544911990
1855 1855 c, t dbSNP:143492306
1889 1889 c, t dbSNP:374767709
1899 1899 c, g dbSNP:191008288
1919 1919 c, g dbSNP:552992690
1960 1960 a, g dbSNP:148019643
2048 2048 c, g dbSNP:544912452
2073 2073 c, t dbSNP:60379427
2120 2120 -, g dbSNP:139320342
2121 2121 -, g dbSNP:397807669
2123 2123 c, g dbSNP:575118875
2135 2135 a, g dbSNP:542297731
2139 2139 c, t dbSNP:141496308
2152 2152 c, t dbSNP:761240548
2162 2162 a, c dbSNP:56141845
2175 2175 g, t dbSNP:776868404
2186 2186 g, t dbSNP:376477076
2214 2214 c, t dbSNP:78097234
2249 2249 c, t dbSNP:1079376
2283 2283 a, g dbSNP:752432557
2288 2288 c, t dbSNP:112849922
2320 2320 c, t dbSNP:763753088
2325 2325 -, t dbSNP:35903997
2346 2346 g, t dbSNP:751109262
2358 2358 a, t dbSNP:60605707
2359 2359 a, g dbSNP:757265551
2402 2402 c, t dbSNP:570239296
2407 2407 c, t dbSNP:1079375

Target ORF information:

RefSeq Version NM_000270
Organism Homo sapiens (human)
Definition Homo sapiens purine nucleoside phosphorylase (PNP), mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_000270

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
ATGGAGAACG GATACACCTA TGAAGATTAT AAGAACACTG CAGAATGGCT TCTGTCTCAC 
ACTAAGCACC GACCTCAAGT TGCAATAATC TGTGGTTCTG GATTAGGAGG TCTGACTGAT
AAATTAACTC AGGCCCAGAT CTTTGACTAC GGTGAAATCC CCAACTTTCC CCGAAGTACA
GTGCCAGGTC ATGCTGGCCG ACTGGTGTTT GGGTTCCTGA ATGGCAGGGC CTGTGTGATG
ATGCAGGGCA GGTTCCACAT GTATGAAGGG TACCCACTCT GGAAGGTGAC ATTCCCAGTG
AGGGTTTTCC ACCTTCTGGG TGTGGACACC CTGGTAGTCA CCAATGCAGC AGGAGGGCTG
AACCCCAAGT TTGAGGTTGG AGATATCATG CTGATCCGTG ACCATATCAA CCTACCTGGT
TTCAGTGGTC AGAACCCTCT CAGAGGGCCC AATGATGAAA GGTTTGGAGA TCGTTTCCCT
GCCATGTCTG ATGCCTACGA CCGGACTATG AGGCAGAGGG CTCTCAGTAC CTGGAAACAA
ATGGGGGAGC AACGTGAGCT ACAGGAAGGC ACCTATGTGA TGGTGGCAGG CCCCAGCTTT
GAGACTGTGG CAGAATGTCG TGTGCTGCAG AAGCTGGGAG CAGACGCTGT TGGCATGAGT
ACAGTACCAG AAGTTATCGT TGCACGGCAC TGTGGACTTC GAGTCTTTGG CTTCTCACTC
ATCACTAACA AGGTCATCAT GGATTATGAA AGCCTGGAGA AGGCCAACCA TGAAGAAGTC
TTAGCAGCTG GCAAACAAGC TGCACAGAAA TTGGAACAGT TTGTCTCCAT TCTTATGGCC
AGCATTCCAC TCCCTGACAA AGCCAGTTGA

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