Pnpt1 polyribonucleotide nucleotidyltransferase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pnpt1provided by MGI
Official Full Name: polyribonucleotide nucleotidyltransferase 1provided by MGI
Primary source: MGI:MGI:1918951
See related: Ensembl:ENSMUSG00000020464 AllianceGenome:MGI:1918951
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: Old35; PNPase; Pnptl1; 1200003F12Rik
Summary: Predicted to enable several functions, including RNA binding activity; identical protein binding activity; and polyribonucleotide nucleotidyltransferase activity. Involved in mitochondrial mRNA catabolic process; mitochondrion organization; and regulation of cellular respiration. Located in mitochondrial intermembrane space. Is expressed in central nervous system and sensory organ. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 70; combined oxidative phosphorylation deficiency 13; and spinocerebellar ataxia type 25. Orthologous to human PNPT1 (polyribonucleotide nucleotidyltransferase 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in liver E14 (RPKM 13.5), placenta adult (RPKM 11.3) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 A3.3; 11 16.46 cM

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (29080236..29112010)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (29130129..29161827)

Chromosome 11 - NC_000077.7 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 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?

Pnpt1 mediates NLRP3 inflammasome activation by MAVS and metabolic reprogramming in macrophages.
Title: Pnpt1 mediates NLRP3 inflammasome activation by MAVS and metabolic reprogramming in macrophages.
This study establishes PNPase as a contributor to mitochondrial miRNA import through the transport of miRNA-378, which may regulate bioenergetics during type 2 diabetes mellitus.
Title: Exploring the mitochondrial microRNA import pathway through Polynucleotide Phosphorylase (PNPase).
The data support an unanticipated role for PNPASE in mediating the translocation of RNAs into mitochondria
Title: PNPASE regulates RNA import into mitochondria.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH126190 (e-PCR)
- UniSTS:162898

Pnpt1 (e-PCR), detects polymorphism
- UniSTS:479196

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 3'-5'-RNA exonuclease activity	IBA Inferred from Biological aspect of Ancestor more info
enables 3'-5'-RNA exonuclease activity	ISO Inferred from Sequence Orthology more info
enables 3'-5'-RNA exonuclease activity	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables miRNA binding	ISO Inferred from Sequence Orthology more info
enables miRNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables poly(G) binding	ISO Inferred from Sequence Orthology more info
enables poly(G) binding	ISS Inferred from Sequence or Structural Similarity more info
enables poly(U) RNA binding	ISO Inferred from Sequence Orthology more info
enables poly(U) RNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables polyribonucleotide nucleotidyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables polyribonucleotide nucleotidyltransferase activity	ISO Inferred from Sequence Orthology more info
enables polyribonucleotide nucleotidyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in RNA catabolic process	ISO Inferred from Sequence Orthology more info
involved_in RNA catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in RNA import into mitochondrion	ISO Inferred from Sequence Orthology more info
involved_in RNA import into mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to interferon-beta	IEA Inferred from Electronic Annotation more info
involved_in cellular response to interferon-beta	ISO Inferred from Sequence Orthology more info
involved_in cellular response to oxidative stress	ISO Inferred from Sequence Orthology more info
involved_in cellular response to oxidative stress	ISS Inferred from Sequence or Structural Similarity more info
involved_in liver regeneration	IEA Inferred from Electronic Annotation more info
involved_in mRNA catabolic process	ISO Inferred from Sequence Orthology more info
involved_in mRNA catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in mRNA processing	IEA Inferred from Electronic Annotation more info
involved_in mitochondrial RNA 3'-end processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial RNA 3'-end processing	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial RNA 3'-end processing	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitochondrial RNA 5'-end processing	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial RNA 5'-end processing	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitochondrial RNA catabolic process	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial RNA catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitochondrial mRNA catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial mRNA catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial mRNA catabolic process	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial mRNA polyadenylation	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial mRNA polyadenylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of growth	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of growth	ISS Inferred from Sequence or Structural Similarity more info
involved_in nuclear polyadenylation-dependent mRNA catabolic process	ISO Inferred from Sequence Orthology more info
involved_in nuclear polyadenylation-dependent mRNA catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of mRNA catabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of mRNA catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of miRNA catabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of miRNA catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of mitochondrial RNA catabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of mitochondrial RNA catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein homooligomerization	ISO Inferred from Sequence Orthology more info
involved_in protein homooligomerization	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein homotrimerization	ISO Inferred from Sequence Orthology more info
involved_in protein homotrimerization	ISS Inferred from Sequence or Structural Similarity more info
involved_in rRNA import into mitochondrion	ISO Inferred from Sequence Orthology more info
involved_in rRNA import into mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cell cycle	ISO Inferred from Sequence Orthology more info
involved_in regulation of cell cycle	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cellular respiration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cellular senescence	ISO Inferred from Sequence Orthology more info
involved_in regulation of cellular senescence	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to cAMP	IEA Inferred from Electronic Annotation more info
involved_in response to growth hormone	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
part_of mitochondrial degradosome	ISO Inferred from Sequence Orthology more info
part_of mitochondrial degradosome	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial intermembrane space	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial intermembrane space	ISO Inferred from Sequence Orthology more info
located_in mitochondrial matrix	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in ribosome	IEA Inferred from Electronic Annotation more info
located_in ribosome	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: polyribonucleotide nucleotidyltransferase 1, mitochondrial

Names: 3'-5' RNA exonuclease OLD35; PNPase 1; PNPase old-35; polynucleotide phosphorylase 1; polynucleotide phosphorylase-like protein

NP_082145.1

EC 2.7.7.8

XP_006514876.1

EC 2.7.7.8

XP_011242053.1

EC 2.7.7.8

XP_030102190.1

EC 2.7.7.8

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_027869.2 → NP_082145.1 polyribonucleotide nucleotidyltransferase 1, mitochondrial precursor

See identical proteins and their annotated locations for NP_082145.1

Status: VALIDATED

Source sequence(s)

AK149419, BG092250, BX000351

Consensus CDS

CCDS24490.1

UniProtKB/Swiss-Prot

Q3UEP9, Q810U7, Q812B3, Q8K1R3, Q8R2U3, Q9DC52

UniProtKB/TrEMBL

Q3TST0, Q3UNL5

Related

ENSMUSP00000020756.9, ENSMUST00000020756.9

Conserved Domains (1) summary

PRK11824
Location:47 → 752

PRK11824; polynucleotide phosphorylase/polyadenylase; Provisional

RNA

NR_157297.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AK149419, AK152445, BX000351

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

29080236..29112010

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011243751.4 → XP_011242053.1 polyribonucleotide nucleotidyltransferase 1, mitochondrial isoform X1

See identical proteins and their annotated locations for XP_011242053.1

UniProtKB/Swiss-Prot

Q3UEP9, Q810U7, Q812B3, Q8K1R3, Q8R2U3, Q9DC52

UniProtKB/TrEMBL

Q3TST0, Q3UNL5

Conserved Domains (1) summary

PRK11824
Location:47 → 752

PRK11824; polynucleotide phosphorylase/polyadenylase; Provisional
XM_006514813.5 → XP_006514876.1 polyribonucleotide nucleotidyltransferase 1, mitochondrial isoform X3

Conserved Domains (1) summary

PRK11824
Location:2 → 461

PRK11824; polynucleotide phosphorylase/polyadenylase; Provisional
XM_030246330.2 → XP_030102190.1 polyribonucleotide nucleotidyltransferase 1, mitochondrial isoform X2

Conserved Domains (1) summary

PRK11824
Location:10 → 472

PRK11824; polynucleotide phosphorylase/polyadenylase; Provisional