PTRH1
Peptidyl-tRNA Hydrolase 1 Homolog
Gene Information Card
| Symbol | PTRH1 |
|---|---|
| Full Name | Peptidyl-tRNA Hydrolase 1 Homolog |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.11 |
| NCBI Gene ID | 138428 ncbi.nlm.nih.gov/gene/138428 |
| Ensembl ID | ENSG00000188984 |
| UniProt ID | Q9H3U5 |
| OMIM ID | 608328 |
| HGNC ID | 24265 |
| Aliases | PTH, PTH1, PTHL, PTRH1 |
Description
The PTRH1 gene encodes peptidyl-tRNA hydrolase 1, a cytoplasmic enzyme that cleaves peptidyl-tRNAs released during ribosome stalling, recycling tRNA for protein synthesis. Mutations in PTRH1 cause infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) | Loss-of-function mutations impair peptidyl-tRNA hydrolysis, leading to translational stress and cellular dysfunction in neurons, endocrine cells, and pancreas | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Medium |
| Pancreas | 8.5 | Medium |
| Liver | 6.1 | Low |
| Kidney | 7.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.0 | High expression |
| HeLa | 9.5 | Medium expression |
| SH-SY5Y | 11.0 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.152A>G (p.Tyr51Cys) | Missense | Rare | Loss of function, associated with IMNEPD |
| c.335G>A (p.Arg112Gln) | Missense | Rare | Loss of function, associated with IMNEPD |
Mutation functional classification
Loss of Function (LOF)
Missense mutations reduce or abolish enzymatic activity, leading to IMNEPD.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • peptidyl-tRNA hydrolase activity | • cytoplasm |
| • protein biosynthesis | • tRNA metabolic process |
Pathways
• tRNA processing
• Protein synthesis
Protein Summary
PTRH1 is a 194-amino acid cytoplasmic protein that catalyzes the hydrolysis of peptidyl-tRNAs, essential for ribosome recycling and translational fidelity. Its structure includes a conserved catalytic domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTRH1 Knockout HEK293 Cell Line | EDJ-KQ8649 | Human | 138428 | Details Get a Quote |
| PTRH1 Knockout A-549 Cell Line | EDJ-KQ36067 | Human | 138428 | Details Get a Quote |
| PTRH1 Knockout HCT 116 Cell Line | EDJ-KQ36069 | Human | 138428 | Details Get a Quote |
| PTRH1 Knockout HeLa Cell Line | EDJ-KQ36070 | Human | 138428 | Details Get a Quote |
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