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Homo sapiens purine nucleoside phosphorylase (PNP), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000270 Homo sapiens purine nucleoside phosphorylase (PNP), mRNA. GenEZ ORF Cloning In-stock $348.00 $299.00 10

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RefSeq Version NM_000270.3, 270288734
Length 2438 bp
Structure linear
Update Date 17-APR-2013
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)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
159+dbSNP:
159+c, tdbSNP:200560458
182+c, tdbSNP:147041973
206+a, gdbSNP:1049562
216+c, tdbSNP:104894455
297+c, tdbSNP:1049564
317+c, tdbSNP:1130650
318+c, tdbSNP:104894460
319+a, gdbSNP:199763463
411+dbSNP:
411+a, gdbSNP:104894453
475+a, cdbSNP:148349782
529+a, gdbSNP:104894450
551+c, tdbSNP:143595260
593+a, gdbSNP:200861403
615+dbSNP:
615+a, gdbSNP:141543277
628+c, tdbSNP:150531909
666+c, gdbSNP:104894454
668+a, tdbSNP:17881554
689+c, gdbSNP:145773529
721+a, gdbSNP:104894452
766+a, gdbSNP:201501535
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
1031+a, gdbSNP:201497504
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
1388+a, gdbSNP:149943917
1410+c, tdbSNP:1049700
1499+a, cdbSNP:186060210
1505+c, tdbSNP:147629522
1537..1538+, gdbSNP:35139440
1553+c, tdbSNP:142286450
1583+c, tdbSNP:145734715
1611+c, tdbSNP:17878900
1744+a, gdbSNP:1760933
1803+c, gdbSNP:147765009
1815+a, gdbSNP:61013934
1827+a, gdbSNP:17883795
1832+c, tdbSNP:79538439
1855+c, tdbSNP:143492306
1899+c, gdbSNP:191008288
1960+a, gdbSNP:148019643
2073+c, tdbSNP:60379427
2120..2121+, gdbSNP:139320342
2121..2122+, gdbSNP:58280014
2139+c, tdbSNP:141496308
2162+a, cdbSNP:56141845
2214+c, tdbSNP:78097234
2249+c, tdbSNP:1079376
2288+c, tdbSNP:112849922
2314+a, cdbSNP: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 $348.00 $299.00 10
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,P.L., 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,R.G., Hirschi,J.S., Ghanem,M., Murkin,A.S. and Schramm,V.L.
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,S.K., Bhat,V.B., Thompson,C., Vasu,V.T., Fermin,D., Choi,H., Creighton,C.J., Gayatri,S., Lan,L., Putluri,N., Thangjam,G.S., Kaur,P., Shabahang,M., Giri,J.G., Nesvizhskii,A.I., Asea,A.A., Cashikar,A.G., 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,Y.H., Chen,Y.H., Su,Y.N., Hsu,C.C., Chen,Y.H. and Yuan,T.H.
Journal J Environ Monit 12 (6), 1247-1254 (2010)
Title Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency .
Author Aust,M.R., Andrews,L.G., Barrett,M.J., Norby-Slycord,C.J. and Markert,M.L.
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,L.G. and Markert,M.L.
Journal J. Biol. Chem. 267 (11), 7834-7838 (1992)
Title Sequence and functional characterization of the human purine nucleoside phosphorylase promoter .
Author Jonsson,J.J., Williams,S.R. and McIvor,R.S.
Journal Nucleic Acids Res. 19 (18), 5015-5020 (1991)
Title Purine nucleoside phosphorylase deficiency .
Author Markert,M.L.
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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