PNPT1 Back

polyribonucleotide nucleotidyltransferase 1

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of PNPT1

The protein encoded by this gene belongs to the evolutionary conserved polynucleotide phosphorylase family comprised of phosphate dependent 3'-to-5' exoribonucleases implicated in RNA processing and degradation. This enzyme is predominantly localized in the mitochondrial intermembrane space and is involved in import of RNA to mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency-13 and autosomal recessive nonsyndromic deafness-70. Related pseudogenes are found on chromosomes 3 and 7.

Community Annotation of PNPT1 Add / Edit PNPT1: Annotations

No community annotations yet for PNPT1.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

Figure notes

• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


PNPT1 is highly significantly mutated in
PNPT1 is significantly mutated in
PNPT1 is near significance in

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for PNPT1