PTRHD1
Peptidyl-tRNA Hydrolase Domain Containing 1
Gene Information Card
| Symbol | PTRHD1 |
|---|---|
| Full Name | Peptidyl-tRNA Hydrolase Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p16.3 |
| NCBI Gene ID | 391356 ncbi.nlm.nih.gov/gene/391356 |
| Ensembl ID | ENSG00000187601 |
| UniProt ID | Q5VY09 |
| OMIM ID | 614505 |
| HGNC ID | 37264 |
| Aliases | C2orf27, PTH2, PTRH2 |
Description
PTRHD1 encodes a protein with a peptidyl-tRNA hydrolase domain, involved in the recycling of peptidyl-tRNAs during translation. The gene is expressed in various tissues and has been implicated in neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodegeneration with brain iron accumulation (NBIA) | Loss-of-function mutations in PTRHD1 disrupt peptidyl-tRNA hydrolysis, leading to mitochondrial dysfunction and iron accumulation. | ClinVar, OMIM |
| Spastic paraplegia | Homozygous missense variants cause axonal degeneration. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Testis | 12.8 | Medium |
| Liver | 8.5 | Low |
| Heart | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 18.4 | Neuronal model |
| HEK293 | 14.1 | Embryonic kidney |
| HeLa | 9.7 | Cervical cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.152C>T (p.Pro51Leu) | Missense | Rare | Loss of hydrolase activity |
| c.199G>A (p.Gly67Arg) | Missense | Rare | Impaired protein stability |
Mutation functional classification
Loss of Function (LOF)
Missense variants reduce peptidyl-tRNA hydrolase activity, leading to translational stress and neurodegeneration.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • peptidyl-tRNA hydrolase activity | • cytoplasm |
| • translation | • protein binding |
Pathways
• tRNA processing
• Mitochondrial translation
Protein Summary
PTRHD1 is a 179-amino acid protein localized to the cytoplasm and mitochondria, catalyzing the hydrolysis of peptidyl-tRNAs to release peptides and tRNAs, essential for translational fidelity and mitochondrial function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTRHD1 Knockout HEK293 Cell Line | EDJ-KQ14210 | Human | 391356 | Details Get a Quote |
| PTRHD1 Knockout A-549 Cell Line | EDJ-KQ45424 | Human | 391356 | Details Get a Quote |
| PTRHD1 Knockout HCT 116 Cell Line | EDJ-KQ45426 | Human | 391356 | Details Get a Quote |
| PTRHD1 Knockout HeLa Cell Line | EDJ-KQ45427 | Human | 391356 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
