PUS7L Gene - Pseudouridine Synthase 7 Like
Comprehensive genomic and proteomic information for PUS7L, including gene card, expression, mutations, and pathways.
Gene Information Card
| Symbol | PUS7L |
|---|---|
| Full Name | pseudouridine synthase 7 like |
| Gene Type | gene with protein product |
| Chromosomal Location | 12q12 |
| NCBI Gene ID | 83448 ncbi.nlm.nih.gov/gene/83448 |
| Ensembl ID | ENSG00000129317 |
| UniProt ID | Q9H0K6 |
| OMIM ID | Not available |
| HGNC ID | HGNC:25276 |
| Aliases | DKFZP434G1415 |
Description
PUS7L (pseudouridine synthase 7 like) is a protein-coding gene located on chromosome 12q12. It is predicted to have pseudouridine synthase activity, which catalyzes the isomerization of uridine to pseudouridine in RNA molecules. The gene is also known by the alias DKFZP434G1415. Its function is not fully characterized, but it may play a role in RNA modification and cellular processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Not established | No specific disease association has been confirmed for PUS7L. | No evidence from ClinVar or OMIM. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.1 | Low |
| Lung | 5.4 | Low |
| Liver | 3.2 | Low |
| Kidney | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.5 | Cervical cancer cell line |
| K562 | 7.8 | Chronic myelogenous leukemia |
| A549 | 6.2 | Lung carcinoma |
| HepG2 | 4.1 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | Missense | 0.01% | Unknown effect |
| c.567C>T (p.Pro189Leu) | Missense | 0.005% | Unknown effect |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations have been reported for PUS7L.
Gain of Function (GOF)
No gain-of-function mutations have been reported for PUS7L.
Dominant Negative (DN)
No dominant-negative mutations have been reported for PUS7L.
View complete mutation data：
Gene Ontology (GO)
| • pseudouridine synthase activity | • RNA binding |
| • isomerase activity |
Pathways
• RNA modification
• tRNA processing
Protein Summary
The PUS7L protein is predicted to be a pseudouridine synthase, an enzyme that converts uridine to pseudouridine in RNA. This modification is important for RNA stability and function. The protein is likely localized in the nucleus or cytoplasm and may be involved in tRNA and rRNA processing. Further studies are needed to fully understand its biological role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PUS7L Knockout HEK293 Cell Line | EDJ-KQ9843 | Human | 83448 | Details Get a Quote |
| PUS7L Knockout A-549 Cell Line | EDJ-KQ36692 | Human | 83448 | Details Get a Quote |
| PUS7L Knockout HCT 116 Cell Line | EDJ-KQ36693 | Human | 83448 | Details Get a Quote |
| PUS7L Knockout HeLa Cell Line | EDJ-KQ36694 | Human | 83448 | Details Get a Quote |
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