Pnp purine-nucleoside phosphorylase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pnpprovided by MGI
Official Full Name: purine-nucleoside phosphorylaseprovided by MGI
Primary source: MGI:MGI:97365
See related: Ensembl:ENSMUSG00000115338 AllianceGenome:MGI:97365
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Np; Np-1; Np-2; Pnp1
Summary: Enables guanosine phosphorylase activity and purine-nucleoside phosphorylase activity. Involved in allantoin metabolic process; amide catabolic process; and nucleobase-containing small molecule metabolic process. Acts upstream of or within several processes, including nucleobase-containing small molecule metabolic process; positive regulation of lymphocyte activation; and urate biosynthetic process. Is active in cytosol. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and sensory organ. Used to study purine nucleoside phosphorylase deficiency. Human ortholog(s) of this gene implicated in purine nucleoside phosphorylase deficiency and purine-pyrimidine metabolic disorder. Orthologous to human PNP (purine nucleoside phosphorylase). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in placenta adult (RPKM 51.3), large intestine adult (RPKM 50.6) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 C1; 14 26.31 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (51181760..51190869)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (50944303..50953412)

Chromosome 14 - NC_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loss of PNP expression is associated with hearing loss.
Title: PNPase knockout results in mtDNA loss and an altered metabolic gene expression program.
PNP deficiency causes cerebellar abnormalities, including Purkinje cell damage and progressive motor deficits.
Title: Cerebellar abnormalities in purine nucleoside phosphorylase deficient mice.
PNP is important for the survival of DP thymocytes. Accumulation of dGuo in cases of PNP deficiency leads to mitochondria-initiated apoptosis of DP thymocytes, which can be prevented by restoring PNP activity in the cells.
Title: Effects of purine nucleoside phosphorylase deficiency on thymocyte development.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (8) 1 citation
Endonuclease-mediated (2)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH125524 (e-PCR)
- UniSTS:162340

Pnp (e-PCR), detects polymorphism
- UniSTS:144232

Pnp2 (e-PCR), detects polymorphism
- UniSTS:546959

AU015798 (e-PCR)
- UniSTS:180645

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables guanosine phosphorylase activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables nucleoside binding	ISO Inferred from Sequence Orthology more info
enables phosphate ion binding	ISO Inferred from Sequence Orthology more info
enables purine nucleobase binding	ISO Inferred from Sequence Orthology more info
enables purine-nucleoside phosphorylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables purine-nucleoside phosphorylase activity	IDA Inferred from Direct Assay more info	PubMed
enables purine-nucleoside phosphorylase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables purine-nucleoside phosphorylase activity	ISO Inferred from Sequence Orthology more info	PubMed

Process	Evidence Code	Pubs
involved_in AMP catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in AMP catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in AMP salvage	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of B cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of DNA repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in GMP catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in GMP catabolic process to guanine	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in GMP salvage	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within GTP biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in IMP catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in IMP catabolic process	ISO Inferred from Sequence Orthology more info	PubMed
involved_in IMP salvage	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of T cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of T cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in adenosine catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in adenosine catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in allantoin metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in allantoin metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in allantoin metabolic process	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of alpha-beta T cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in amide catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in amide catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in amide catabolic process	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within apoptotic mitochondrial changes	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dAMP catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dAMP catabolic process	ISO Inferred from Sequence Orthology more info	PubMed
involved_in dGMP catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dGMP catabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within dGTP metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in deoxyadenosine catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in deoxyadenosine catabolic process	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within deoxyguanosine catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in deoxyguanosine catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within deoxyinosine catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in deoxyinosine catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in deoxyinosine catabolic process	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within guanosine catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in immune response	ISO Inferred from Sequence Orthology more info
involved_in inosine catabolic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within inosine catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inosine catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inosine catabolic process	ISO Inferred from Sequence Orthology more info
involved_in inosine catabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of T cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nicotinamide riboside catabolic process	ISO Inferred from Sequence Orthology more info
involved_in nucleobase-containing compound metabolic process	ISO Inferred from Sequence Orthology more info
involved_in nucleotide biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of B cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of DNA repair	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of T cell mediated cytotoxicity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of T cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of T cell proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of alpha-beta T cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of alpha-beta T cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of interleukin-2 production	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within purine nucleoside metabolic process	IC Inferred by Curator more info	PubMed
acts_upstream_of_or_within purine nucleoside metabolic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within purine nucleoside metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in purine ribonucleoside salvage	IEA Inferred from Electronic Annotation more info
involved_in purine-containing compound salvage	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to gamma radiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to xenobiotic stimulus	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within urate biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within urate biosynthetic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in extracellular region	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: purine nucleoside phosphorylase

Names: inosine phosphorylase; inosine-guanosine phosphorylase; purine-nucleoside phosphorylase 1

NP_038660.1

EC 2.4.2.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_013632.4 → NP_038660.1 purine nucleoside phosphorylase

See identical proteins and their annotated locations for NP_038660.1

Status: VALIDATED

Source sequence(s)

AK049817, AK153451, BB613747

Consensus CDS

CCDS27029.1

UniProtKB/Swiss-Prot

P23492, Q4FJT6

UniProtKB/TrEMBL

Q543K9

Related

ENSMUSP00000043926.7, ENSMUST00000048615.13

Conserved Domains (2) summary

COG0005
Location:11 → 283

XapA; Purine nucleoside phosphorylase [Nucleotide transport and metabolism]

TIGR01700
Location:26 → 280

PNPH; purine nucleoside phosphorylase I, inosine and guanosine-specific