polyribonucleotide nucleotidyltransferase 1

Summary
Gene Symbol
  • PNPT1
Organism
Homo sapiens (human)
NCBI Gene
87178
PubChem
87178
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Cytoplasm
  • Disease variant
  • Exonuclease
  • Membrane
  • Mitochondrion
  • Non-syndromic deafness
  • Nucleotidyltransferase
  • Phosphoprotein
  • Primary mitochondrial disease
  • RNA-binding
  • Reference proteome
  • Spinocerebellar ataxia
  • Transit peptide
  • Transport
  • mRNA processing
Proteins
Displaying 1 entry
UniProt Protein Name
Q8TCS8
  • 3'-5' RNA exonuclease OLD35
  • PNPase old-35
  • Polynucleotide phosphorylase 1
  • Polynucleotide phosphorylase-like protein
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Disease
Disease Ontology
Displaying all 3 entries
DO ID Disease Name Source
DOID:0050974 spinocerebellar ataxia type 25
DOID:0110521 autosomal recessive nonsyndromic deafness 70
DOID:0111467 combined oxidative phosphorylation deficiency 13

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 8, 2025