PNPT1 Gene - Polyribonucleotide Nucleotidyltransferase 1
Mitochondrial RNA Processing and Degradation Gene
Gene Information Card
| Symbol | PNPT1 |
|---|---|
| Full Name | Polyribonucleotide Nucleotidyltransferase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p16.1 |
| NCBI Gene ID | 87178 ncbi.nlm.nih.gov/gene/87178 |
| Ensembl ID | ENSG00000138031 |
| UniProt ID | Q8TCS8 |
| OMIM ID | 610316 |
| HGNC ID | 23166 |
| Aliases | PNPase, PNPASE, old-35, COXPD13, DFNB70 |
Description
PNPT1 encodes the mitochondrial polyribonucleotide nucleotidyltransferase 1 (PNPase), an exoribonuclease and polyadenylation enzyme involved in mitochondrial RNA processing, degradation, and import. It is essential for mitochondrial homeostasis and respiratory chain function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency 13 (COXPD13) | Loss of PNPase function impairs mitochondrial RNA degradation, leading to defective oxidative phosphorylation | OMIM #614932 |
| Autosomal recessive nonsyndromic hearing loss (DFNB70) | PNPT1 mutations disrupt mitochondrial RNA metabolism in cochlear cells | OMIM #614934 |
| Encephalopathy, progressive, with or without lipodystrophy | Mitochondrial dysfunction due to impaired RNA surveillance | OMIM #617107 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.8 | Medium |
| Liver | 8.2 | Low |
| Brain | 7.9 | Low |
| Kidney | 9.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical adenocarcinoma |
| HEK293 | 14.7 | Embryonic kidney |
| K562 | 11.2 | Leukemia |
| HepG2 | 9.8 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1400C>T (p.Thr467Ile) | Missense | Rare | Reduced exoribonuclease activity, associated with COXPD13 |
| c.2051G>A (p.Arg684Gln) | Missense | Rare | Impaired RNA binding, linked to DFNB70 |
| c.1460_1461del (p.Glu487Glyfs*3) | Frameshift | Very rare | Loss of function, severe encephalopathy |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations that reduce or abolish PNPase exoribonuclease activity, leading to mitochondrial RNA accumulation and respiratory chain deficiency.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported; all known pathogenic mutations are recessive.
View complete mutation data：
Gene Ontology (GO)
| • 3'-5'-exoribonuclease activity (GO:0000175) | • mRNA processing (GO:0006397) |
| • mRNA catabolic process (GO:0006402) | • mitochondrion (GO:0005739) |
| • poly(U) RNA binding (GO:0008266) |
Pathways
• Mitochondrial RNA degradation (Reactome: R-HSA-8868773)
• RNA degradation (KEGG: hsa03018)
Protein Summary
PNPT1 encodes the mitochondrial PNPase, a 783-amino acid protein with 3'-5' exoribonuclease and polyadenylation activities. It localizes to the mitochondrial matrix, where it degrades and processes mitochondrial transcripts, and is also implicated in RNA import into mitochondria. The protein contains an N-terminal mitochondrial targeting sequence, a central catalytic domain, and a C-terminal RNA-binding domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PNPT1 Knockout A-549 Cell Line | EDC07710 | Human | 87178 | Details Get a Quote |
