PUS10 Pseudouridine Synthase
tRNA pseudouridine synthase involved in RNA modification and cellular stress response
Gene Information Card
| Symbol | PUS10 |
|---|---|
| Full Name | Pseudouridine Synthase 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p16.1 |
| NCBI Gene ID | 286205 ncbi.nlm.nih.gov/gene/286205 |
| Ensembl ID | ENSG00000162923 |
| UniProt ID | Q6P1L8 |
| OMIM ID | 617993 |
| HGNC ID | 26016 |
| Aliases | C2orf9, FLJ20489, MGC131831 |
Description
PUS10 (Pseudouridine Synthase 10) is a protein-coding gene that encodes a member of the pseudouridine synthase family. The enzyme catalyzes the isomerization of uridine to pseudouridine (Ψ) in RNA molecules, primarily tRNAs. Pseudouridylation is a common post-transcriptional modification that stabilizes RNA structure and influences translation efficiency. PUS10 is involved in cellular stress responses and has been implicated in cancer biology through its role in RNA modification.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered pseudouridylation may affect tRNA function and translation of oncogenic proteins | COSMIC database reports somatic mutations in multiple cancer types |
| Neurodevelopmental disorders | Potential impact on RNA processing in neurons | Limited evidence from rare variant studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Brain | 10.5 | Medium |
| Liver | 8.3 | Low |
| Heart | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.5 | Embryonic kidney cells |
| HeLa | 14.2 | Cervical cancer cells |
| K562 | 11.0 | Leukemia cells |
| HepG2 | 9.8 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown functional effect |
| c.1246G>A (p.Gly416Arg) | Missense | <0.01% | Reported in COSMIC for colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • pseudouridine synthase activity | • tRNA binding |
| • RNA processing | • tRNA pseudouridine synthesis |
| • nucleus | • cytoplasm |
Pathways
• tRNA modification in the nucleus and cytoplasm
• RNA metabolism
Protein Summary
PUS10 is a 459-amino acid protein that localizes to both the nucleus and cytoplasm. It contains a conserved pseudouridine synthase domain (PUA domain) responsible for catalyzing the conversion of uridine to pseudouridine in tRNA substrates. The enzyme recognizes specific tRNA positions and contributes to the structural integrity and function of mature tRNAs. PUS10 expression is regulated during cell cycle and stress conditions, suggesting a role in adaptive cellular responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PUS10 Knockout HEK293 Cell Line | EDJ-KQ11316 | Human | 150962 | Details Get a Quote |
| PUS10 Knockout A-549 Cell Line | EDJ-KQ39456 | Human | 150962 | Details Get a Quote |
| PUS10 Knockout HCT 116 Cell Line | EDJ-KQ39457 | Human | 150962 | Details Get a Quote |
| PUS10 Knockout HeLa Cell Line | EDJ-KQ39458 | Human | 150962 | Details Get a Quote |
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