TRUB1: TruB Pseudouridine Synthase Family Member 1
A mitochondrial pseudouridine synthase involved in tRNA modification and linked to mitochondrial disease and cancer
Gene Information Card
| Symbol | TRUB1 |
|---|---|
| Full Name | TruB Pseudouridine Synthase Family Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q25.3 |
| NCBI Gene ID | 142940 ncbi.nlm.nih.gov/gene/142940 |
| Ensembl ID | ENSG00000165806 |
| UniProt ID | Q8WUJ3 |
| OMIM ID | 610895 |
| HGNC ID | 16060 |
| Aliases | PUS4, PUS4P, TRUB1P |
Description
TRUB1 encodes a mitochondrial pseudouridine synthase that catalyzes the isomerization of uridine to pseudouridine (Ψ) at position 55 in transfer RNAs (tRNAs). This modification is critical for tRNA stability, folding, and translational fidelity. TRUB1 is localized to the mitochondria and is essential for mitochondrial protein synthesis. Mutations in TRUB1 have been associated with mitochondrial dysfunction and are implicated in cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial disease (general) | Impaired pseudouridylation of mitochondrial tRNAs leads to defective mitochondrial translation and energy metabolism. | ClinVar, OMIM |
| Colorectal cancer | TRUB1 overexpression correlates with poor prognosis; altered pseudouridylation may affect translation of oncogenic transcripts. | COSMIC, NCBI |
| Breast cancer | TRUB1 upregulation observed in tumor tissues; potential role in tRNA modification promoting cancer cell proliferation. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Brain | 4.2 | Low |
| Kidney | 5.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical cancer cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| K562 | 7.5 | Leukemia cell line |
| MCF7 | 11.1 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon; predicted loss of function |
| c.215C>T (p.Pro72Leu) | Missense | <0.01% | Unknown significance; reported in ClinVar |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Unknown significance; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the catalytic site or mitochondrial localization impair pseudouridine synthase activity, leading to defective tRNA modification and mitochondrial dysfunction.
Gain of Function (GOF)
Not reported for TRUB1.
Dominant Negative (DN)
Not reported for TRUB1.
View complete mutation data：
Gene Ontology (GO)
| • GO:0001522 - pseudouridine synthesis | • GO:0005739 - mitochondrion |
| • GO:0009982 - pseudouridine synthase activity | • GO:0006400 - tRNA modification |
| • GO:0032543 - mitochondrial translation |
Pathways
• tRNA modification in mitochondria
• Pseudouridine synthesis
Protein Summary
TRUB1 is a 45 kDa mitochondrial protein containing a TruB domain responsible for pseudouridine synthase activity. It specifically modifies uridine at position 55 in tRNAs, a conserved modification that stabilizes tRNA tertiary structure. The protein is essential for efficient mitochondrial translation and cellular energy production. Dysregulation of TRUB1 expression or activity is linked to mitochondrial disorders and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRUB1 Knockout HEK293 Cell Line | EDJ-KQ3836 | Human | 142940 | Details Get a Quote |
| TRUB1 Knockout HCT 116 Cell Line | EDJ-KQ25991 | Human | 142940 | Details Get a Quote |
| TRUB1 Knockout HeLa Cell Line | EDC90504 | Human | 142940 | Details Get a Quote |
| TRUB1 Knockout A-549 Cell Line | EDJ-KQ24632 | Human | 142940 | Details Get a Quote |
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