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Protein Coding Gene : Pnpt1 polyribonucleotide nucleotidyltransferase 1

Primary Identifier  MGI:1918951 Organism  mouse, laboratory
Chromosome  11 NCBI Gene Number  71701
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Predicted to enable several functions, including 3'-5'-RNA exonuclease activity; RNA 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).
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality and impaired mitochondrial RNA import. [provided by MGI curators]
  • synonyms:
  • polyribonucleotide nucleotidyltransferase 1,
  • polynucleotide phosphorylase,
  • RIKEN cDNA 1200003F12 gene,
  • Pnpt1,
  • PNPase,
  • 1200003F12Rik

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Genome

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0 Canonical

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1 Involved In Mutations

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Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

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Function

Mouse features --> Functions (GO terms)

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Disease

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