PUSL1
Pseudouridine Synthase Like 1
Gene Information Card
| Symbol | PUSL1 |
|---|---|
| Full Name | Pseudouridine Synthase Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.22 |
| NCBI Gene ID | 126789 ncbi.nlm.nih.gov/gene/126789 |
| Ensembl ID | ENSG00000162614 |
| UniProt ID | Q8N0Z8 |
| OMIM ID | 617206 |
| HGNC ID | 26087 |
| Aliases | FLJ22624, MGC13170 |
Description
PUSL1 (Pseudouridine Synthase Like 1) is a protein-coding gene that encodes a member of the pseudouridine synthase family. Pseudouridine synthases catalyze the isomerization of uridine to pseudouridine (Ψ) in RNA molecules, a common post-transcriptional modification. PUSL1 is predicted to be involved in RNA pseudouridylation, potentially affecting RNA stability, structure, and function. The gene is located on chromosome 1p36.22 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Brain | 4.5 | Low |
| Lung | 3.1 | Low |
| Liver | 2.8 | Low |
| Kidney | 3.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 5.0 | Moderate expression |
| HeLa | 4.2 | Moderate expression |
| K562 | 3.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations documented in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations documented.
Dominant Negative (DN)
No dominant-negative mutations documented.
View complete mutation data：
Gene Ontology (GO)
| • pseudouridine synthase activity (GO:0009982) | • RNA binding (GO:0003723) |
| • pseudouridine synthesis (GO:0001522) | • nucleus (GO:0005634) |
Pathways
• RNA modification (Reactome: R-HSA-72312)
Protein Summary
The PUSL1 protein (UniProt Q8N0Z8) is a 374-amino acid pseudouridine synthase-like enzyme. It contains a conserved PUA domain and a catalytic domain typical of pseudouridine synthases. The protein is predicted to localize to the nucleus and catalyze the conversion of uridine to pseudouridine in RNA substrates. Its precise biological substrates and cellular functions remain under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PUSL1 Knockout HEK293 Cell Line | EDJ-KQ8966 | Human | 126789 | Details Get a Quote |
| PUSL1 Knockout A-549 Cell Line | EDJ-KQ35365 | Human | 126789 | Details Get a Quote |
| PUSL1 Knockout HCT 116 Cell Line | EDJ-KQ35366 | Human | 126789 | Details Get a Quote |
| PUSL1 Knockout HeLa Cell Line | EDJ-KQ35367 | Human | 126789 | Details Get a Quote |
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