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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PNP Gene

protein-coding GIFtS: 68
GCID: GC14P021021

purine nucleoside phosphorylase

(Previous name: nucleoside phosphorylase )
(Previous symbol: NP)

Explore 68 diseases affiliated with
PNP via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Purine Nucleoside Phosphorylase¹ ²		EC 2.4.2.1³ ⁸
NP¹ ² ³ ⁵		Nucleoside Phosphorylase¹
PUNP¹ ²		PRO1837²
Inosine Phosphorylase² ³		Purine-Nucleoside:Orthophosphate Ribosyltransferase²
Inosine-Guanosine Phosphorylase² ³

External Ids:	HGNC: 7892¹	Entrez Gene: 4860²	Ensembl: ENSG00000198805⁷	OMIM: 164050⁵	UniProtKB: P00491³

Export aliases for PNP gene to outside databases

Previous GC identifers: GC14P020008 GC14P001059

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PNP:

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)

UniProtKB/Swiss-Prot: PNPH_HUMAN, P00491

Function: The purine nucleoside phosphorylases catalyze the phosphorolytic breakdown of the N-glycosidic bond in the

beta-(deoxy)ribonucleoside molecules, with the formation of the corresponding free purine bases and

pentose-1-phosphate

Gene Wiki entry for PNP (Purine nucleoside phosphorylase)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000014.8 NC_018925.1 NT_026437.12

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for PNP
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PNP promoter sequence

Search SABiosciences Chromatin IP Primers for PNP

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PNP

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q13.1 Ensembl cytogenetic band: 14q11.2 HGNC cytogenetic band: 14q11.2

PNP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PNP gene location

GeneLoc information about chromosome 14 GeneLoc Exon Structure

GeneLoc location for GC14P021021: view genomic region (about GC identifiers)

Start:	20,937,113 bp from pter	End:	20,946,165 bp from pter
Size:	9,053 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PNPH_HUMAN, P00491 (See protein sequence)

Recommended Name: Purine nucleoside phosphorylase

Size: 289 amino acids; 32118 Da

Subunit: Homotrimer

Subcellular location: Cytoplasm, cytoskeleton (By similarity). Cytoplasm

6/34 PDB 3D structures from and Proteopedia for PNP (see all 34):

1M73 (3D)

1PF7 (3D)

1PWY (3D)

1RCT (3D)

1RFG (3D)

1RR6 (3D)

Secondary accessions: B2R8S5 D3DS00 Q15160 Q5PZ03

Explore the universe of human proteins at neXtProt for PNP: NX_P00491

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P00491

4 DME Specific Peptides for PNP (P00491)

KVTFPVRV

VVTNAAGGLN

RFPAMSDAYDR

DAVGMSTVPEVIVA

PNP Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000261.2

ENSEMBL proteins:

ENSP00000450663 ENSP00000354532 ENSP00000450966 ENSP00000452421 ENSP00000451108

Reactome Protein details: P00491
Human Recombinant Protein Products for PNP:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	Novus Biologicals PNP Proteins Novus Biologicals PNP Lysate
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for PNP
	Uscn Proteins for PNP

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	IDA	15047506
GO:0005737	cytoplasm	IDA	16930574
GO:0005829	cytosol	TAS	--
GO:0005856	cytoskeleton	IEA	--

PNP for ontologies About GeneDecksing

PNP Antibody Products:

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Assay Products for PNP:

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	Uscn ELISAs and CLIAs for PNP

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

PNP for domains About GeneDecksing

5 InterPro domains/families:

IPR018099 Purine_phosphorylase-2_CS

IPR001369 PNP/MTAP

IPR000845 Nucleoside_phosphorylase_d

IPR011270 Pur_Nuc_Pase_Ino/Guo-sp

IPR011268 Purine_phosphorylase

Graphical View of Domain Structure for InterPro Entry P00491

ProtoNet protein and cluster: P00491

1 Blocks protein family: IPB001369 Purine (and other) phosphorylase

UniProtKB/Swiss-Prot: PNPH_HUMAN, P00491

Similarity: Belongs to the PNP/MTAP phosphorylase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: PNPH_HUMAN, P00491

Function: The purine nucleoside phosphorylases catalyze the phosphorolytic breakdown of the N-glycosidic bond in the

beta-(deoxy)ribonucleoside molecules, with the formation of the corresponding free purine bases and

pentose-1-phosphate

Catalytic activity: Purine nucleoside + phosphate = purine + alpha-D-ribose 1-phosphate

Enzyme Number (IUBMB): EC 2.4.2.1¹ ²

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001882	nucleoside binding	IDA	9305962
GO:0002060	purine nucleobase binding	IDA	9305962
GO:0004731	purine-nucleoside phosphorylase activity	IDA	16964310
GO:0008144	drug binding	IDA	18938130
GO:0016763	transferase activity, transferring pentosyl groups	--	--

PNP for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for PNP:

Decreased number of cells in m

6 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Pnp):

cellular	hematopoietic system	homeostasis/metabolism	immune system	mortality/aging
renal/urinary system

PNP for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Pnp^tm1Cmr for PNP

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for PNP

miRNA Products:		miRTarBase miRNAs that target PNP: hsa-mir-1 (MIRT003765)

		OriGene 3'-UTR Clone: PNP Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PNP
		8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate PNP (see all 12):
		hsa-miR-3194-5p hsa-miR-206 hsa-miR-185* hsa-miR-4251 hsa-miR-202 hsa-miR-1 hsa-miR-4267 hsa-miR-3926

		SwitchGear 3'UTR luciferase reporter plasmid: PNP 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PNP (see all 7) OriGene shRNA RFP: PNP OriGene siRNA: PNP
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		Sirion Biotech Custom design and validation of potent shRNA sequences against PNP

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for PNP
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PNP (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PNP (see first 1) NM_000270 (human cat#: SC322018) NM_000270 (human cat#: SC120008) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: PNP (NM_000270)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PNP

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PNP
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		Sirion Biotech Customized stable knockdown cell line services for PNP Sirion Biotech Customized inducible knockdown cell line services for PNP Sirion Biotech Customized stable overexpressing cell line services for PNP Sirion Biotech Customized inducible overexpressing cell line services for PNP

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PNP

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

adenine and adenosine salvage III

adenine and adenosine salvage III	1.00	xanthine and xanthosine salvage	0.25
purine ribonucleosides degradation to ribose-1-phosphate	0.75	guanosine nucleotides degradation III	0.17
guanine and guanosine salvage I	0.50	arsenate detoxification I (glutaredoxin)	0.17

Purine metabolism

	Purine metabolism	1.00			Purine salvage	0.39
	Metabolism of nucleotides	0.42			Purine catabolism	0.30

purine nucleotides degradation II (aerobic)

	purine nucleotides degradation II (aerobic)	1.00			urate biosynthesis/inosine 5-phosphate degradation	0.58
	adenosine nucleotides degradation II	0.67

NAD metabolism

	NAD metabolism	1.00			Nicotinate and nicotinamide metabolism	0.43
	NAD metabolism	1.00

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for PNP

	NAD metabolism
	ATP/ITP metabolism

2 GeneGo (Thomson Reuters) Pathways for PNP

	NAD metabolism
	ATP/ITP metabolism

5/9 BioSystems Pathways for PNP (see all 9)

	arsenate detoxification I (glutaredoxin)
	adenine and adenosine salvage III
	adenosine nucleotides degradation II
	urate biosynthesis/inosine 5-phosphate degradation
	purine nucleotides degradation II (aerobic)

5 Reactome Pathways for PNP

	Metabolism of nucleotides
	Metabolism
	Purine salvage
	Purine catabolism
	Purine metabolism

4 Kegg Pathways (Kegg details for PNP):

	Purine metabolism
	Pyrimidine metabolism
	Nicotinate and nicotinamide metabolism
	Metabolic pathways

UniProtKB/Swiss-Prot: PNPH_HUMAN, P00491

Pathway: Purine metabolism; purine nucleoside salvage

PNP for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for PNP

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/57 Interacting proteins for PNP (P00491^{2, 3} ENSP00000354532⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 57)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
APLP1	P51693²^,³	MINT-63336 I2D: score=5
CCDC90B	Q9GZT6²^,³	MINT-63337 I2D: score=5
TP53	P04637²^,³	MINT-63335 I2D: score=5
ZHX1	Q9UKY1²^,³	MINT-63340 I2D: score=5
LRIF1	Q5T3J3²^,³	MINT-63338 I2D: score=4

About this table

Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006139	nucleobase-containing compound metabolic process	IDA	3029074
GO:0006144	purine nucleobase metabolic process	TAS	--
GO:0006148	inosine catabolic process	IDA	16964310
GO:0006195	purine nucleotide catabolic process	TAS	--
GO:0006738	nicotinamide riboside catabolic process	IDA	19001417

PNP for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

PNP for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PNP

10/23 HMDB Compounds for PNP (see all 23) About this table

Compound	Synonyms	CAS #	PubMed Ids
Adenine	1,6-Dihydro-6-iminopurine (see all 19)	73-24-5	--
Adenosine	1-(6-amino-9H-purin-9-yl)-1-deoxy-beta-D-Ribofuranose (see all 32)	58-61-7	--
Deoxyadenosine	1-(6-amino-9H-purin-9-yl)-1,2-dideoxy-b-D-Ribofuranose (see all 22)	958-09-8	--
Deoxyadenosine monophosphate	2'-Deoxy-5'-adenylate (see all 24)	653-63-4	--
Deoxyguanosine	2'-Deoxyguanosine (see all 11)	961-07-9	--
Deoxyinosine	2'-Deoxyinosine (see all 10)	890-38-0	--
Deoxyribose 1-phosphate	2-deoxy-D-ribose-1-phosphate (see all 14)	17210-42-3	--
Deoxyuridine	1-(2-Deoxy-D-erythro-pentofuranosyl)uracil (see all 12)	951-78-0	--
Guanine	GUN (see all 26)	73-40-5	--
Guanosine	2-Amino-1,9-dihydro-9-b-D-ribofuranosyl-6H-purin-6-one (see all 10)	118-00-3	--

10/19 DrugBank Compounds for PNP (see all 19) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Cladribine	2-CdA (see all 5)	4291-63-8	target	inducer	6808516 3260648 10444166 10500836 8521855
2,6-Diamino-(S)-9-[2-(Phosphonomethoxy)Propyl]Purine	--	--	target	--	17139284 17016423 10592235
2-Amino-7-[2-(2-Hydroxy-1-Hydroxymethyl-Ethylamino)-Ethyl]-1,7-Dihydro-Purin-6-One	--	--	target	--	17139284 17016423 10592235
9-(5,5-Difluoro-5-Phosphonopentyl)Guanine	--	--	target	--	17139284 17016423 10592235
9-Deazainosine	--	89458-19-5	target	--	17139284 17016423 10592235
Hypoxanthine	--	68-94-0	target	--	17139284 17016423 10592235
Ribose-1-Phosphate	--	--	target	--	17139284 17016423 10592235
3-Deoxyguanosine	--	--	target	--	17139284 17016423
4'-Deaza-1'-Aza-2'-Deoxy-1'-(9-Methylene)-Immucillin-H, (3r,4r)-N-[9-Deazahypoxanthin-9-Yl)Methyl]-4-Hydroxymethyl-Pyrrolidin-3-Ol	--	--	target	--	17139284 17016423
8-azaguanine	Azaguanine (see all 5)	134-58-7	target	--	17139284 17016423

10/102 Novoseek chemical compound relationships for PNP gene (see all 102) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
purine nucleoside	99.3	962	9628722 (5), 8432666 (4), 12018991 (4), 7779212 (4) (see all 99)
9-deazaguanine	93.5	16	18066911 (2), 17544667 (1), 1789255 (1), 8515423 (1) (see all 6)
ribose 1-phosphate	92.2	31	16771490 (2), 19172318 (1), 19778725 (1), 9305963 (1) (see all 13)
mesg	91.9	10	1445214 (1), 8954523 (1), 10395483 (1), 7659511 (1) (see all 7)
6-methylpurine 2'-deoxyriboside	91.1	8	9322865 (1), 15028961 (1), 18407409 (1), 16305530 (1)
5'-methylthioinosine	90.7	2	15961383 (1), 15576366 (1)
9-(5,5-difluoro-5-phosphonopentyl)guanine	90.1	27	16263289 (1), 17544667 (1), 18029771 (1), 15272165 (1) (see all 5)
purine	89.8	163	9585525 (4), 12429535 (2), 7614469 (2), 15817485 (2) (see all 74)
inosine	89.5	71	19478237 (3), 8241176 (2), 11707439 (2), 12730608 (2) (see all 35)
7-methyl-6-thio-guanosine	86.4	4	16154528 (2), 7810877 (1), 7785781 (1)

Search CenterWatch for drugs/clinical trials and news about PNP / PNPH

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for PNP gene:

NM_000270.3

Unigene Cluster for PNP:

Purine nucleoside phosphorylase

Hs.75514 [show with all ESTs]

Unigene Representative Sequence: AK126154

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000553418 ENST00000361505(uc001vxo.4) ENST00000556293(uc010ahm.2)

ENST00000557229(uc010ahn.3) ENST00000554469 ENST00000554056 ENST00000553591

ENST00000554065 ENST00000556754(uc021rns.1)

miRNA Products:		OriGene 3'-UTR Clone: PNP Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PNP
		8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate PNP (see all 12):
		hsa-miR-3194-5p hsa-miR-206 hsa-miR-185* hsa-miR-4251 hsa-miR-202 hsa-miR-1 hsa-miR-4267 hsa-miR-3926

		SwitchGear 3'UTR luciferase reporter plasmid: PNP 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PNP (see all 7) OriGene shRNA RFP: PNP OriGene siRNA: PNP
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PNP
		Sirion Biotech Custom design and validation of potent shRNA sequences against PNP

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PNP (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PNP (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: PNP (NM_000270)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PNP
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PNP

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		SABiosciences RT² qPCR Primer Assay in human, mouse, rat PNP
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PNP
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PNP

Additional cDNA sequence:

AK098544.1 AK126154.1 AK307340.1 AK307364.1 AK313490.1 BC104206.1 BC104207.1 BC106074.1

CR407607.1 X00737.1

17 DOTS entries:

DT.95354047 DT.100637431 DT.119477 DT.95315045 DT.95358448 DT.95156884 DT.100887960 DT.119476

DT.95314017 DT.100643362 DT.120778482 DT.120778505 DT.120778508 DT.120778518 DT.99939499 DT.100037476

DT.92446924

24/517 AceView cDNA sequences (see all 517):

AA541792 AK098544 BE746690 T27651 AW403290 AA156105 BQ448150 AI140048

BM737669 CR599285 BG218158 BI907872 CB157308 CA432742 BM790325 AI377116

CA308829 CR595160 AI674743 CR598982 BM826250 BQ423245 BG185342 BI517586

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PNP expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGCCTCTGTC

About this image

PNP expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Liver

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

PureStem™ endothelial progenitor RP1-MV2-18 (Embryonic Progenitor Cell)

Endothelium

See PNP Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PNP

SOURCE GeneReport for Unigene cluster: Hs.75514

UniProtKB/Swiss-Prot: PNPH_HUMAN, P00491

Tissue specificity: Expressed in red blood cells; overexpressed in red blood cells (cytoplasm) of patients with

hereditary non-spherocytic hemolytic anemia of unknown etiology

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for PNP gene from 9/31 species (see all 31) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Pnp^{1 , 5}	purine-nucleoside phosphorylase^{1, 5}	84.2(n)¹ 84.43(a)¹		14 (26.31 cM)⁵ 18950¹ NM_013632.4¹ NP_038660.1¹ 50944302⁵
chicken (Gallus gallus)	Aves	LOC769958¹	purine nucleoside phosphorylase-like	62.04(n) 60.85(a)		769958 XM_003641902.1 XP_003641950.1
lizard (Anolis carolinensis)	Reptilia	PNP⁶	--	70(a)	1 ↔ 1	GL343220.1(1255735-1262614)
African clawed frog (Xenopus laevis)	Amphibia	BC047264.1²	--	72.41(n)		BC047264.1
zebrafish (Danio rerio)	Actinopterygii	wufc27g06²	Transcribed sequence with weak similarity to protein more	71.49(n)		CK028042.1
fruit fly (Drosophila melanogaster)	Insecta	CG16758¹	CG16758	55.36(n) 51.24(a)		38315 NM_139470.3 NP_647727.2
worm (Caenorhabditis elegans)	Secernentea	K02D7.1¹	Protein K02D7.1	50.19(n) 47.49(a)		176851 NM_067499.6 NP_499900.1
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	PNP1(YLR209C)⁴ PNP1¹	Purine nucleoside phosphorylase, specifically metabolizes more⁴ Pnp1p¹	54.81(n)¹ 52.43(a)¹		12(561732-560797)⁴ 850906^{1, 4} NP_013310.1^{1, 4}
E. coli (Escherichia coli)	Gamma proteobacteria	xapA⁶	purine nucleoside phosphorylase II	39(a)	1 ↔ 1	Chromosome(2522067-2522900)

ENSEMBL Gene Tree for PNP (if available)
TreeFam Gene Tree for PNP (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for PNP gene

PNP for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for PNP
PGOHUM00000240104

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 14 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs1049564^1,2	C,F,A,H	non-pathogenic	1062218(-)	`TTCACC/TGTAGT`	2	S G	mis¹		29		NA EU NS EA WA CSA	8505
rs104894455^1,2	C	pathogenic	1062137(+)	`AGCACC/TGACCT`	2	R *	stg¹		0	--	--	--	--
rs104894460^1,2	C	pathogenic	1062239(+)	`TTCCCC/TGAAGT`	2	R *	stg¹		0	--	--	--	--
rs104894453^1,2	C	pathogenic	1064326(+)	`TGTATA/GAAGGG`	2	K E	mis¹		0	--	--	--	--
rs104894450^1,2	C	pathogenic	1064641(+)	`TGGAGA/GTATCA`	2	D G	mis¹		0	--	--	--	--
rs104894452^1,2	C	pathogenic	1064946(+)	`CACCTA/GTGTGA`	2	Y C	mis¹		0	--	--	--	--
rs17880503^1,2	C	--	1057354(+)	`ATTTTT/CAATTT`	1	--	us2k¹		2		EU NA	46
rs79064306^1,2	F	--	1057394(+)	`TCTTAA/GACACT`	1	--	us2k¹		1		WA	118
rs79485601^1,2	C,F	--	1057897(+)	`TGGCAG/CCATTG`	1	--	us2k¹		1		NA	120
rs17881356^1,2	C,F	--	1058345(+)	`TTTTTT/AAATTT`	1	--	us2k¹ tfbs³		3		EU WA NA	280

HapMap Linkage Disequilibrium report for PNP (20937113 - 20946165 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for PNP
1 CNV: 71865
Human Gene Mutation Database (HGMD): PNP

Locus Specific Mutation Databases (LSDB): PNP

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

PNP for disorders           About GeneDecksing

OMIM gene information: 164050
OMIM disorders: 613179
UniProtKB/Swiss-Prot: PNPH_HUMAN, P00491

Defects in PNP are the cause of purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179]. It leads to a

severe T-cell immunodeficiency with neurologic disorder in children

20/68 diseases for PNP (see all 68): About MalaCards

nucleoside phosphorylase deficiency purine nucleoside phosphorylase deficiency immunodeficiency due to purine nucleoside phosphorylase deficiency lesch-nyhan syndrome

adenosine deaminase deficiency molybdenum cofactor deficiency progressive multifocal leukoencephalopathy severe combined immunodeficiency

graft versus host disease thoracic outlet syndrome spastic paraplegia hypouricemia

common variable immunodeficiency non-hodgkin lymphoma combined immunodeficiency pedophilia

herpes simplex myeloid leukemia exhibitionism paraplegia

4 diseases from the University of Copenhagen DISEASES database for PNP:

Schizophrenia Purine nucleoside phosphorylase deficiency Pedophilia Exhibitionism

10/52 Novoseek disease relationships for PNP gene (see all 52) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
adenosine deaminase deficiency	74.3	5	9605997 (2), 16176880 (1), 1696525 (1), 1988230 (1)
hypouricemia	59.7	6	8976110 (1), 8673045 (1), 1929018 (1), 8665699 (1)
severe combined immunodeficiency	56.7	18	8931706 (2), 1560016 (2), 1384322 (1), 8976114 (1) (see all 9)
molybdenum cofactor deficiency	52	1	10759467 (1)
lesch-nyhan syndrome	50.4	1	8976090 (1)
immunodeficiency	47.8	47	19733163 (3), 20210752 (2), 7918681 (1), 17641261 (1) (see all 31)
leukemia t-cell	43.4	7	1573639 (1), 15299840 (1), 8592572 (1), 9403342 (1) (see all 5)
t-all	41.3	2	18086346 (1), 18086344 (1)
lymphopenia	39.1	9	15571269 (1), 18086347 (1), 16131572 (1), 16778146 (1) (see all 5)
developmental delay	37.6	8	19733163 (1), 11902746 (1), 17910661 (1), 15520787 (1) (see all 6)

Human Genome Epidemiology (HuGE) Navigator: PNP (15 documents)

Export disorders for PNP gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for PNP gene, integrated from 9 sources (see all 457):
(articles sorted by number of sources associating them with PNP)

Utopia: connect your pdf to the dynamic
world of online information

Human purine nucleoside phosphorylase cDNA sequence and genomic clone characterization. (PubMed id 6087295)^{1, 2, 3} Williams S.R.... Martin D.W. Jr. (1984)
Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency. (PubMed id 1384322)^{1, 2, 9} Aust M.R....Markert M.L. (1992)
Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient. (PubMed id 8931706)^{1, 2, 9} Pannicke U.... Schwarz K. (1996)
Genetic variation in genes associated with arsenic metabolism: glutathione S-transferase omega 1-1 and purine nucleoside phosphorylase polymorphisms in European and indigenous Americans. (PubMed id 12928150)^{1, 2, 9} Yu L.... Klimecki W.T. (2003)
Three-dimensional structure of human erythrocytic purine nucleoside phosphorylase at 3.2-A resolution. (PubMed id 2104852)^{1, 2, 9} Ealick S.E.... Bugg C.E. (1990)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
A human purine nucleoside phosphorylase deficiency caused by a single base change. (PubMed id 3029074)^{1, 2} Williams S.R.... Martin D.W. Jr. (1987)
Purine nucleoside phosphorylase deficiency. (PubMed id 1931007)^{1, 9} Markert M.L. (1991)
Intracellular delivery of purine nucleoside phosphorylase (PNP) fused to protein transduction domain corrects PNP deficiency in vitro. (PubMed id 16930574)^{1, 9} Toro A....Grunebaum E. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 4860	HGNC: 7892	AceView: NP	Ensembl:ENSG00000198805	euGenes: HUgn4860
ECgene: PNP	Kegg: 4860	H-InvDB: PNP

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for PNP	Pharmacogenomics, SNPs, Pathways
NPbase	http://bioinf.uta.fi/NPbase/
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NP

Intellectual Property for PNP gene
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Patent Information for PNP gene:
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