PTRHD1 Gene Summary [Human]
This gene encodes the enzyme peptidyl-tRNA hydrolase. Peptidyl-tRNA hydrolases perform the essential function of recycling peptidyl-tRNAs. Mutations in this gene are associated with autosomal-recessive intellectual disability and parkinsonism. [provided by RefSeq, May 2017]
Details
| Type | Protein Coding |
| Official Symbol | PTRHD1 |
| Official Name | peptidyl-tRNA hydrolase domain containing 1 [Source:HGNC Symbol;Acc:HGNC:33782] |
| Ensembl ID | ENSG00000184924 |
| Bio databases IDs | |
| Aliases | peptidyl-tRNA hydrolase domain containing 1 |
| Synonyms | 2410017P09Rik, C2orf79, LOC391356, NEDPBA, peptidyl-tRNA hydrolase domain containing 1, RGD1561792 |
| 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 PTRHD1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Peptidyl-tRNA hydrolase PTH2
- protein binding
- PTH2_family
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
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
- Mitochondria
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PTRHD1 gene, providing context for its role in the cell.
Molecular Function
What the gene product does at the molecular level
- protein binding
- aminoacyl-tRNA hydrolase activity