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Database:

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Homo sapiens purine nucleoside phosphorylase (PNP), mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu22260 Homo sapiens purine nucleoside phosphorylase (PNP), mRNA. pcDNA3.1+-DYK In-stock $99.00 5-7
OHu22260C Homo sapiens purine nucleoside phosphorylase (PNP), mRNA. Customized vector In-stock $149.00 5-7

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Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_000270.3, 270288734
Length 870 bp
Structure linear
Update Date 10-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens purine nucleoside phosphorylase (PNP), mRNA.
Product purine nucleoside phosphorylase
Comment

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.

RefSeq NP_000261.2
CDS 147..1016
Misc Feature(1)69..71
Misc Feature(2)147..149
Misc Feature(3)147..149
Misc Feature(4)180..992
Misc Feature(5)222..986
Exon (1)1..157
Gene:PNP
Gene Synonym:NP; PRO1837; PUNP
Exon (2)158..327
Gene:PNP
Gene Synonym:NP; PRO1837; PUNP
Exon (3)328..431
Gene:PNP
Gene Synonym:NP; PRO1837; PUNP
Exon (4)432..607
Gene:PNP
Gene Synonym:NP; PRO1837; PUNP
Exon (5)608..798
Gene:PNP
Gene Synonym:NP; PRO1837; PUNP
Exon (6)799..2421
Gene:PNP
Gene Synonym:NP; PRO1837; PUNP
Translation MENGYTYEDYKNTAEWLLSHTKHRPQVAIICGSGLGGLTDKLTQAQIFDYGEIPNFPRST VPGHAGRLVFGFLNGRACVMMQGRFHMYEGYPLWKVTFPVRVFHLLGVDTLVVTNAAGGL NPKFEVGDIMLIRDHINLPGFSGQNPLRGPNDERFGDRFPAMSDAYDRTMRQRALSTWKQ MGEQRELQEGTYVMVAGPSFETVAECRVLQKLGADAVGMSTVPEVIVARHCGLRVFGFSL ITNKVIMDYESLEKANHEEVLAAGKQAAQKLEQFVSILMASIPLPDKAS
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Position Chain Variation Link
51+dbSNP:
51+a, gdbSNP:17881206
56+g, tdbSNP:115464597
64+c, gdbSNP:113248050
134+c, tdbSNP:371285226
159+dbSNP:
159+c, tdbSNP:200560458
182+c, tdbSNP:147041973
complement(206)-g, adbSNP:1049562
216+c, tdbSNP:104894455
complement(297)-t, cdbSNP:1049564
297+a, gdbSNP:386513700
305+a, cdbSNP:367991537
317+c, tdbSNP:1130650
318+c, tdbSNP:104894460
319+a, gdbSNP:199763463
346+dbSNP:
346+a, gdbSNP:372793308
411+a, gdbSNP:104894453
475+a, cdbSNP:148349782
529+a, gdbSNP:104894450
551+c, tdbSNP:143595260
573+g, tdbSNP:374377455
593+a, gdbSNP:200861403
613+dbSNP:
613+c, gdbSNP:372581539
615+a, gdbSNP:141543277
628+c, tdbSNP:150531909
649+a, gdbSNP:376788669
654+a, cdbSNP:369994873
666+c, gdbSNP:104894454
668+a, tdbSNP:17881554
689+c, gdbSNP:145773529
699+c, tdbSNP:373569964
721+a, gdbSNP:104894452
766+a, gdbSNP:201501535
787+a, cdbSNP:376839639
791+c, tdbSNP:369193020
795+a, gdbSNP:138702206
797+c, tdbSNP:200790798
825+dbSNP:
825+a, gdbSNP:61755047
831+c, tdbSNP:139364283
839+g, tdbSNP:149957827
847+c, gdbSNP:104894451
875+c, tdbSNP:371184527
883+c, tdbSNP:375159414
926+a, cdbSNP:368488127
986+c, tdbSNP:370513543
1030+c, tdbSNP:375289878
1031+a, gdbSNP:201497504
1053+c, tdbSNP:367615281
1054+c, gdbSNP:371711940
1067+a, cdbSNP:372200673
1194+c, tdbSNP:76571622
1229+c, gdbSNP:151283499
1241+a, gdbSNP:111742618
1251+a, gdbSNP:182309640
1270+c, tdbSNP:7785
1296+c, tdbSNP:139143167
1297+c, tdbSNP:112999633
1351+c, tdbSNP:374918316
1388+a, gdbSNP:149943917
1410+c, tdbSNP:1049700
1499+a, cdbSNP:186060210
1505+c, tdbSNP:147629522
1540..1541+, gdbSNP:35139440
1553+c, tdbSNP:142286450
complement(1583)-t, cdbSNP:145734715
1611+c, tdbSNP:17878900
complement(1744)-g, adbSNP:1760933
1803+c, gdbSNP:147765009
1815+a, gdbSNP:61013934
1827+a, gdbSNP:17883795
1832+c, tdbSNP:79538439
complement(1855)-t, cdbSNP:143492306
1889+c, tdbSNP:374767709
1899+c, gdbSNP:191008288
complement(1960)-g, adbSNP:148019643
2073+c, tdbSNP:60379427
2120..2121+, gdbSNP:139320342
2121..2122+, gdbSNP:397807669
2139+c, tdbSNP:141496308
2162+a, cdbSNP:56141845
2186+g, tdbSNP:376477076
2214+c, tdbSNP:78097234
2249+c, tdbSNP:1079376
2288+c, tdbSNP:112849922
complement(2314)-c, adbSNP:2481768
2325..2326+, tdbSNP:35903997
2358+a, tdbSNP:60605707
2407+c, tdbSNP:1079375
Gene SymbolPNP
Gene SynonymNP; PRO1837; PUNP
Chromosome14
Locus Map14q13.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000270 Homo sapiens purine nucleoside phosphorylase (PNP), mRNA. In-stock $99.00 5-7
Title T- and B-cell defects in a novel purine nucleoside phosphorylase mutation .
Author Somech,R., Lev,A., Simon,A.J., Hanna,S. and Etzioni,A.
Journal J. Allergy Clin. Immunol. 130 (2), 539-542 (2012)
Title Purine nucleoside phosphorylase deficiency: a mutation update .
Author Walker PL, Corrigan A, Arenas M, Escuredo E, Fairbanks L and Marinaki A.
Journal Nucleosides Nucleotides Nucleic Acids 30 (12), 1243-1247 (2011)
Title Arsenate and phosphate as nucleophiles at the transition states of human purine nucleoside phosphorylase .
Author Silva RG, Hirschi JS, Ghanem M, Murkin AS and Schramm VL.
Journal Biochemistry 50 (13), 2701-2709 (2011)
Title Metabolites of purine nucleoside phosphorylase (NP) in serum have the potential to delineate pancreatic adenocarcinoma .
Author Vareed SK, Bhat VB, Thompson C, Vasu VT, Fermin D, Choi H, Creighton CJ, Gayatri S, Lan L, Putluri N, Thangjam GS, Kaur P, Shabahang M, Giri JG, Nesvizhskii AI, Asea AA, Cashikar AG, Rao A, McLoughlin J and Sreekumar A.
Journal PLoS ONE 6 (3), E17177 (2011)
Title Genetic polymorphism of As3MT and delayed urinary DMA excretion after organic arsenic intake from oyster ingestion .
Author Hwang YH, Chen YH, Su YN, Hsu CC, Chen YH and Yuan TH.
Journal J Environ Monit 12 (6), 1247-1254 (2010)
Title Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency .
Author Aust MR, Andrews LG, Barrett MJ, Norby-Slycord CJ and Markert ML.
Journal Am. J. Hum. Genet. 51 (4), 763-772 (1992)
Title Exon skipping in purine nucleoside phosphorylase mRNA processing leading to severe immunodeficiency .
Author Andrews LG and Markert ML.
Journal J. Biol. Chem. 267 (11), 7834-7838 (1992)
Title Sequence and functional characterization of the human purine nucleoside phosphorylase promoter .
Author Jonsson JJ, Williams SR and McIvor RS.
Journal Nucleic Acids Res. 19 (18), 5015-5020 (1991)
Title Purine nucleoside phosphorylase deficiency .
Author Markert ML.
Journal Immunodefic Rev 3 (1), 45-81 (1991)
Title Purine nucleoside phosphorylase in chronic lymphocytic leukemia (CLL) .
Author Borgers,M., Verhaegen,H., De Brabander,M., De Cree,J., De Cock,W., Thone,F. and Geuens,G.
Journal Blood 52 (5), 886-895 (1978)

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