PNPT1 Gene Summary [Human]
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. [provided by RefSeq, Dec 2012]
Details
| Type | Protein Coding |
| Official Symbol | PNPT1 |
| Official Name | polyribonucleotide nucleotidyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:23166] |
| Ensembl ID | ENSG00000138035 |
| Bio databases IDs | |
| Aliases | polyribonucleotide nucleotidyltransferase 1, polynucleotide phosphorylase, 3'-5' RNA exonuclease |
| Synonyms | 1200003F12Rik, COXPD13, DFNB70, OLD35, PNPASE, PNPase 1, PNPase old-35, Pnptl1, polyribonucleotide nucleotidyltransferase 1, SCA25 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PNPT1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- 3' exoribonuclease family, domain 2
- S1_like
- enzyme
- K homology RNA-binding domain
- Polyribonucleotide nucleotidyltransferase, RNA binding domain
- protein binding
- identical protein binding
- single-stranded RNA binding
- 3' exoribonuclease family, domain 1
- RNA binding
- poly(U) binding protein
- 3'-5' exoribonuclease
- RNase PH-like 3'-5' exoribonucleases
- KH domain
- K homology (KH) RNA-binding domain, type I
- polyribonucleotide nucleotidyltransferase
- S1 RNA binding domain
- guanosine pentaphosphate synthetase I/polynucleotide phosphorylase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- membranous glomerulonephritis
- diabetic nephropathy
- hereditary disorder
- spinocerebellar ataxia type 25
- autosomal recessive deafness type 70
- combined oxidative phosphorylation deficiency 13
- non-small cell lung cancer
- neurodevelopmental disorder
- autosomal recessive deafness type 70 with adult-onset neurodegeneration
- autoimmune thyroid disease
role in cell
- accumulation in
- expression in
- phosphorylation in
- growth
- apoptosis
- degradation in
- S phase
- organization
- response by
- translation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- ribosome
- Nucleus
- Mitochondria
- cytosol
- endoplasmic reticulum membrane
- mitochondrial matrix
- mitochondrial intermembrane space
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PNPT1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of growth
- positive regulation of mRNA catabolic process
- mitochondrial mRNA catabolic process
- mitochondrial RNA catabolic process
- response to cAMP
- mRNA catabolic process
- RNA catabolic process
- mitochondrial mRNA polyadenylation
- regulation of cell cycle
- protein homotrimerization
- regulation of cellular senescence
- cellular response to interferon-beta
- protein homooligomerization
- mitochondrial RNA 3'-end processing
- response to growth hormone stimulus
- mitochondrial RNA 5'-end processing
- mRNA processing
- positive regulation of mitochondrial RNA catabolic process
- regulation of cellular respiration
- mitochondrion organization
- nuclear polyadenylation-dependent mRNA catabolic process
- RNA import into mitochondrion
- rRNA import into mitochondrion
- positive regulation of miRNA catabolic process
- cellular response to oxidative stress
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- mitochondrial intermembrane space
- mitochondrial matrix
- cytoplasm
- mitochondrion
- cytosol
- mitochondrial degradosome
- ribosome
Molecular Function
What the gene product does at the molecular level
- miRNA binding
- 3'-5'-exoribonuclease activity
- identical protein binding
- RNA binding
- protein binding
- poly(G) RNA binding
- poly(U) RNA binding
- polyribonucleotide nucleotidyltransferase activity