Identity
HGNC
LOCATION
2p16.1
LOCUSID
ALIAS
COXPD13,DFNB70,OLD35,PNPASE,old-35
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 87178
MIM: 610316
HGNC: 23166
Ensembl: ENSG00000138035
Variants:
dbSNP: 87178
ClinVar: 87178
TCGA: ENSG00000138035
COSMIC: PNPT1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37479726 | 2023 | Human PNPase causes RNA stabilization and accumulation of R-loops in the Escherichia coli model system. | 0 |
| 37479726 | 2023 | Human PNPase causes RNA stabilization and accumulation of R-loops in the Escherichia coli model system. | 0 |
| 33199448 | 2022 | Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both? | 1 |
| 34374074 | 2022 | PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India. | 4 |
| 35163574 | 2022 | Activity and Function in Human Cells of the Evolutionary Conserved Exonuclease Polynucleotide Phosphorylase. | 5 |
| 35411967 | 2022 | Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25. | 3 |
| 36232701 | 2022 | SP1 and NFY Regulate the Expression of PNPT1, a Gene Encoding a Mitochondrial Protein Involved in Cancer. | 0 |
| 33199448 | 2022 | Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both? | 1 |
| 34374074 | 2022 | PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India. | 4 |
| 35163574 | 2022 | Activity and Function in Human Cells of the Evolutionary Conserved Exonuclease Polynucleotide Phosphorylase. | 5 |
| 35411967 | 2022 | Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25. | 3 |
| 36232701 | 2022 | SP1 and NFY Regulate the Expression of PNPT1, a Gene Encoding a Mitochondrial Protein Involved in Cancer. | 0 |
| 33812062 | 2021 | Crystallographic modeling of the PNPT1:c.1453A>G variant as a cause of mitochondrial dysfunction and autosomal recessive deafness; expanding the neuroimaging and clinical features. | 2 |
| 34415280 | 2021 | Ocular Manifestations of PNPT1-Related Neuropathy. | 0 |
| 33812062 | 2021 | Crystallographic modeling of the PNPT1:c.1453A>G variant as a cause of mitochondrial dysfunction and autosomal recessive deafness; expanding the neuroimaging and clinical features. | 2 |
Citation
Dessen P
PNPT1 (polyribonucleotide nucleotidyltransferase 1)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/45812/pnpt1
