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PNP cDNA ORF clone, 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,

mRNA and Protein(s)

mRNA Protein Name
NM_000270 NP_000261 purine nucleoside phosphorylase



Homo sapiens (human) PNP NP_000261.2
Pan troglodytes (chimpanzee) PNP XP_001140576.1
Macaca mulatta (Rhesus monkey) LOC710245 XP_001104622.1
Canis lupus familiaris (dog) PNP XP_532617.2
Bos taurus (cattle) PNP NP_001007819.1
Bos taurus (cattle) LOC790312 XP_002690791.3
Mus musculus (house mouse) Pnp2 NP_001116843.1
Mus musculus (house mouse) Pnp NP_038660.1
Rattus norvegicus (Norway rat) Pnp NP_001099501.1
Gallus gallus (chicken) PNP XP_003641950.2
Drosophila melanogaster (fruit fly) CG16758 NP_001261330.1
Caenorhabditis elegans K02D7.1 NP_499900.1
Xenopus (Silurana) tropicalis (western clawed frog) pnp NP_001006720.1


GeneRIFs: Gene References Into Functions What's a GeneRIF?

The following PNP gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the PNP cDNA ORF 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
$99.50-$139.30
$199.00
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*Business Day

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

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.


CloneID OHu22260
Clone ID Related Accession (Same CDS sequence) NM_000270
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 User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags COA
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
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. 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.

RefSeq NP_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

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.

book

T- and B-cell defects in a novel purine nucleoside phosphorylase mutation
J. Allergy Clin. Immunol. 130 (2), 539-542 (2012)
Somech,R., Lev,A., Simon,A.J., Hanna,S. and Etzioni,A.


book

Purine nucleoside phosphorylase deficiency: a mutation update
Nucleosides Nucleotides Nucleic Acids 30 (12), 1243-1247 (2011)
Walker PL, Corrigan A, Arenas M, Escuredo E, Fairbanks L and Marinaki A.


book

Arsenate and phosphate as nucleophiles at the transition states of human purine nucleoside phosphorylase
Biochemistry 50 (13), 2701-2709 (2011)
Silva RG, Hirschi JS, Ghanem M, Murkin AS and Schramm VL.


book

Metabolites of purine nucleoside phosphorylase (NP) in serum have the potential to delineate pancreatic adenocarcinoma
PLoS ONE 6 (3), E17177 (2011)
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.


book

Genetic polymorphism of As3MT and delayed urinary DMA excretion after organic arsenic intake from oyster ingestion
J Environ Monit 12 (6), 1247-1254 (2010)
Hwang YH, Chen YH, Su YN, Hsu CC, Chen YH and Yuan TH.


book

Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency
Am. J. Hum. Genet. 51 (4), 763-772 (1992)
Aust MR, Andrews LG, Barrett MJ, Norby-Slycord CJ and Markert ML.


book

Exon skipping in purine nucleoside phosphorylase mRNA processing leading to severe immunodeficiency
J. Biol. Chem. 267 (11), 7834-7838 (1992)
Andrews LG and Markert ML.


book

Sequence and functional characterization of the human purine nucleoside phosphorylase promoter
Nucleic Acids Res. 19 (18), 5015-5020 (1991)
Jonsson JJ, Williams SR and McIvor RS.


book

Purine nucleoside phosphorylase deficiency
Immunodefic Rev 3 (1), 45-81 (1991)
Markert ML.


book

Purine nucleoside phosphorylase in chronic lymphocytic leukemia (CLL)
Blood 52 (5), 886-895 (1978)
Borgers,M., Verhaegen,H., De Brabander,M., De Cree,J., De Cock,W., Thone,F. and Geuens,G.


 
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