Details for: PTRH1

Gene ID: 138428

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: PTRH1

Ensembl ID: ENSG00000187024

Description: peptidyl-tRNA hydrolase 1 homolog

Cell Significance Landscape

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • epithelial cell of lower respiratory tract CL0002632
    CSI 9.44
    rCSI 7.32%
    PRS 95.6
  • secretory cell CL0000151
    CSI 4.9
    rCSI 5.12%
    PRS 93
  • lung ciliated cell CL1000271
    CSI 4.71
    rCSI 5.45%
    PRS 89.53
  • multi-ciliated epithelial cell CL0005012
    CSI 4.42
    rCSI 4.42%
    PRS 89.07
  • ciliated epithelial cell CL0000067
    CSI 3.9
    rCSI 3.43%
    PRS 86.79
  • ependymal cell CL0000065
    CSI 3.62
    rCSI 7.34%
    PRS 79.25
  • melanocyte CL0000148
    CSI 3.5
    rCSI 2.59%
    PRS 91.45
  • epithelial cell of lung CL0000082
    CSI 3.4
    rCSI 2.82%
    PRS 94.82
  • ciliated cell CL0000064
    CSI 3.27
    rCSI 5.29%
    PRS 88.49
  • ciliated columnar cell of tracheobronchial tree CL0002145
    CSI 3.23
    rCSI 7.36%
    PRS 87.8
  • myeloid leukocyte CL0000766
    CSI 3.23
    rCSI 2.98%
    PRS 94.94
  • plasmacytoid dendritic cell, human CL0001058
    CSI 3.08
    rCSI 2.15%
    PRS 96.11
  • bronchus fibroblast of lung CL2000093
    CSI 3.03
    rCSI 2.46%
    PRS 93.31
  • neural crest cell CL0011012
    CSI 2.96
    rCSI 2.34%
    PRS 88.69
  • deuterosomal cell CL4033044
    CSI 2.9
    rCSI 9.8%
    PRS 88.73
  • pancreatic A cell CL0000171
    CSI 2.83
    rCSI 2.97%
    PRS 94.94
  • stem cell CL0000034
    CSI 2.42
    rCSI 2.33%
    PRS 91.09
  • ionocyte CL0005006
    CSI 2.4
    rCSI 2.57%
    PRS 94.76
  • duct epithelial cell CL0000068
    CSI 2.3
    rCSI 3.36%
    PRS 96.2
  • amacrine cell CL0000561
    CSI 2.16
    rCSI 6.27%
    PRS 87.29
  • type B pancreatic cell CL0000169
    CSI 2.14
    rCSI 4.74%
    PRS 93.67
  • fallopian tube secretory epithelial cell CL4030006
    CSI 2.04
    rCSI 1.96%
    PRS 92.62
  • retinal cone cell CL0000573
    CSI 1.95
    rCSI 3.13%
    PRS 87.45
  • basal cell CL0000646
    CSI 1.84
    rCSI 2.45%
    PRS 91.34
  • retinal bipolar neuron CL0000748
    CSI 1.76
    rCSI 3.3%
    PRS 87.44
  • peripheral nervous system neuron CL2000032
    CSI 1.75
    rCSI 2.38%
    PRS 88.66
  • club cell CL0000158
    CSI 1.69
    rCSI 2.47%
    PRS 90.47
  • lung pericyte CL0009089
    CSI 1.65
    rCSI 4.35%
    PRS 96.44
  • pancreatic ductal cell CL0002079
    CSI 1.53
    rCSI 2.97%
    PRS 94.75
  • effector memory CD8-positive, alpha-beta T cell, terminally differentiated CL0001062
    CSI 1.07
    rCSI 5.34%
    PRS 98.16
  • erythroid progenitor cell CL0000038
    CSI 0.62
    rCSI 3.57%
    PRS 94.77

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

Comma-separated if multiple.
Comma-separated if multiple.
Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

Loading network (please wait)...

Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [PTRH1](/details-gene/138428), or Peptidyl-tRNA Hydrolase 1, is a protein-coding gene located on chromosome 9. Functionally, it is an enzyme with `aminoacyl-tRNA hydrolase activity` ([GO:0004045](https://www.ebi.ac.uk/QuickGO/term/GO:0004045)) that plays a critical role in translational quality control. Its primary annotated function is the `rescue of stalled ribosome` ([GO:0072344](https://www.ebi.ac.uk/QuickGO/term/GO:0072344)), a process essential for recycling ribosomes and maintaining protein synthesis fidelity, particularly within the `mitochondrion` ([GO:0005739](https://www.ebi.ac.uk/QuickGO/term/GO:0005739)). Expression data from the **Overall** context reveals that [PTRH1](/details-gene/138428) shows exceptionally high significance in the `epithelial cell of lower respiratory tract` ([CL0002632](/details-cell/CL0002632)) and various ciliated and secretory cell types, suggesting it is a vital housekeeping enzyme in cells with high metabolic activity and protein turnover. ## Cellular Roles and Expression Landscape The expression profile of [PTRH1](/details-gene/138428) indicates a specialized and crucial role in epithelial tissues, particularly those involved in secretory and motile functions. In the **Overall** context, it is most significant in the `epithelial cell of lower respiratory tract` ([CL0002632](/details-cell/CL0002632)) with a CSI of 9.44, positioning it as a key functional component of this cell type. This association is reinforced by its high significance in a constellation of related cell types, including `secretory cell` ([CL0000151](/details-cell/CL0000151)), `lung ciliated cell` ([CL1000271](/details-cell/CL1000271)), `multi-ciliated epithelial cell` ([CL0005012](/details-cell/CL0005012)), and `ciliated columnar cell of tracheobronchial tree` ([CL0002145](/details-cell/CL0002145)). The pattern extends beyond the respiratory system to other ciliated cell types like the `ependymal cell` ([CL0000065](/details-cell/CL0000065)) in the brain, suggesting a fundamental requirement for [PTRH1](/details-gene/138428) in the biology of cilia. Moderate significance is also observed in certain immune lineages such as `myeloid leukocyte` ([CL0000766](/details-cell/CL0000766)) and `plasmacytoid dendritic cell, human` ([CL0001058](/details-cell/CL0001058)), indicating a broader, though less prominent, role in maintaining translational fidelity across various cell systems. ## Pathways and Molecular Function The molecular function of [PTRH1](/details-gene/138428) is centered on maintaining the integrity of protein synthesis. Its annotated role in the `rescue of stalled ribosome` ([GO:0072344](https://www.ebi.ac.uk/QuickGO/term/GO:0072344)) is executed via its `aminoacyl-tRNA hydrolase activity` ([GO:0004045](https://www.ebi.ac.uk/QuickGO/term/GO:0004045)). This process is critical for cleaving the bond between a polypeptide and tRNA on a stalled ribosome, thereby freeing the ribosome for recycling. This function has been experimentally demonstrated, showing its role in releasing nascent chains from arrested mammalian ribosomal complexes ([Link](https://doi.org/10.1016/j.molcel.2018.08.022)). The high expression of [PTRH1](/details-gene/138428) in secretory and ciliated cells is consistent with this function, as these cells have a high translational demand for producing mucus and complex axonemal proteins for cilia. Furthermore, its localization to the `mitochondrion` ([GO:0005739](https://www.ebi.ac.uk/QuickGO/term/GO:0005739)) suggests a specific role in maintaining the function of mitoribosomes. This is particularly relevant for respiratory epithelial cells, which have high energy demands supported by mitochondrial activity. The gene's general `protein binding` ([GO:0005515](https://www.ebi.ac.uk/QuickGO/term/GO:0005515)) and `RNA binding` ([GO:0003723](https://www.ebi.ac.uk/QuickGO/term/GO:0003723)) activities are likely ancillary to its primary role within the ribosome-tRNA complex. ## Research Directions Based on its distinct expression pattern and core molecular function, several research avenues can be proposed. **Proposed Hypotheses:** 1. **Role in Ciliogenesis and Ciliopathies:** Given its exceptionally high significance in multiple ciliated cell types (respiratory, ependymal), it is hypothesized that [PTRH1](/details-gene/138428) is essential for the correct synthesis of structural or regulatory proteins required for ciliogenesis. Loss-of-function mutations could therefore lead to defects in cilia formation or motility, potentially contributing to the pathology of ciliopathies. 2. **Mitochondrial Quality Control in Respiratory Health:** The mitochondrial localization of [PTRH1](/details-gene/138428) suggests it is a key factor in mitochondrial protein synthesis. We hypothesize that this function is especially critical in metabolically active `epithelial cell of lower respiratory tract` ([CL0002632](/details-cell/CL0002632)) to cope with oxidative stress. Disruption of [PTRH1](/details-gene/138428) may compromise mitochondrial function under stress, sensitizing lung tissue to damage from infection or environmental pollutants. **Experimental Approach:** To test the hypothesis that [PTRH1](/details-gene/138428) is critical for ciliogenesis (Hypothesis 1), a robust experimental model would involve CRISPR-Cas9-mediated knockout of the gene in primary human bronchial epithelial cells cultured at an air-liquid interface (ALI) to induce differentiation into a ciliated epithelium. The impact of the knockout would be assessed by (1) quantifying the number of ciliated cells and cilia length via immunofluorescence microscopy using an anti-acetylated tubulin antibody, (2) measuring ciliary beat frequency with high-speed video microscopy, and (3) performing proteomic analysis of isolated cilia to identify specific axonemal proteins whose synthesis is compromised. **Therapeutic Potential:** As a fundamental enzyme in translational quality control, [PTRH1](/details-gene/138428) is unlikely to be a viable target for therapeutic inhibition, which would likely cause significant toxicity in high-protein-turnover tissues. Instead, its clinical relevance may lie in the diagnosis of genetic disorders. If loss-of-function mutations in [PTRH1](/details-gene/138428) are identified as the cause of specific ciliopathies or mitochondrial diseases, a gene therapy approach aimed at restoring its function could be a potential long-term therapeutic strategy.

Genular Protein ID: 3352398402

Symbol: PTH_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q86Y79

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 5 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GO 3 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 RefSeq 1 Rhea 4 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 30244831

Title: Release of ubiquitinated and non-ubiquitinated nascent chains from stalled mammalian ribosomal complexes by ANKZF1 and Ptrh1.

PubMed ID: 30244831

DOI: 10.1016/j.molcel.2018.08.022

Sequence Information:

  • Length: 214
  • Mass: 22937
  • Checksum: DBA3959411DA8248
  • Sequence:
    • MRPGGFLGAG QRLSRAMSRC VLEPRPPGKR WMVAGLGNPG LPGTRHSVGM AVLGQLARRL 
GVAESWTRDR HCAADLALAP LGDAQLVLLR PRRLMNANGR SVARAAELFG LTAEEVYLVH 
DELDKPLGRL ALKLGGSARG HNGVRSCISC LNSNAMPRLR VGIGRPAHPE AVQAHVLGCF 
SPAEQELLPL LLDRATDLIL DHIRERSQGP SLGP

Genular Protein ID: 2009830074

Symbol: C9J7Z1_HUMAN

Name: N/A

UniProtKB Accession Codes:

C9J7Z1

Database IDs:

ARBA 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GO 1 Gene3D 1 GeneTree 1 HGNC 1 InterPro 2 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 2 Pfam 1 Proteomes 2 ProteomicsDB 2 RefSeq 1 SMR 1 SUPFAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 182
  • Mass: 19765
  • Checksum: 381C651AC5F1C4E8
  • Sequence:
    • MRPGGFLGAG QRLSRAMSRC VLEPRPPGKR WMVAGLGNPG LPGTRHSVGM AVLGQLARRL 
GVAESWTRDR HCAADLALAP LGDAQLVLLR PRRLMNANGR SVARAAELFG LTAEEVYLVH 
DELDKPLGRL ALKLGGSARQ CQGCGWVSGA RRTLRRFRPM CWAASPLLSR SCCLCCWIEP 
PT