PSTK: Phosphoseryl-tRNA Kinase
A key enzyme in the selenocysteine biosynthesis pathway, responsible for phosphorylating seryl-tRNA to form O-phosphoseryl-tRNA.
Gene Information Card
| Symbol | PSTK |
|---|---|
| Full Name | Phosphoseryl-tRNA Kinase |
| Gene Type | Protein-coding |
| Chromosomal Location | 10q26.13 |
| NCBI Gene ID | 548596 ncbi.nlm.nih.gov/gene/548596 |
| Ensembl ID | ENSG00000198879 |
| UniProt ID | Q8N0W4 |
| OMIM ID | 614663 |
| HGNC ID | 28343 |
| Aliases | SELD, FLJ14753 |
Description
PSTK encodes phosphoseryl-tRNA kinase, an enzyme that catalyzes the phosphorylation of seryl-tRNA to form O-phosphoseryl-tRNA (Sep-tRNA). This is an essential step in the selenocysteine biosynthesis pathway, where Sep-tRNA is subsequently converted to selenocysteyl-tRNA for incorporation into selenoproteins. Selenoproteins play critical roles in antioxidant defense, thyroid hormone metabolism, and redox regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.0 | Low |
| Thyroid | 9.8 | Low |
| Liver | 8.5 | Low |
| Kidney | 7.2 | Low |
| Brain | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney |
| HeLa | 12.8 | Cervical carcinoma |
| HepG2 | 10.5 | Hepatocellular carcinoma |
| K562 | 8.3 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|
Mutation functional classification
Loss of Function (LOF)
No pathogenic loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations documented.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding (GO:0005524) | • protein kinase activity (GO:0004672) |
| • phosphotransferase activity (GO:0016773) | • translation (GO:0006412) |
| • selenocysteine biosynthetic process (GO:0016260) | • cytoplasm (GO:0005737) |
Pathways
• Selenocysteine biosynthesis (R-HSA-2408522)
Protein Summary
Phosphoseryl-tRNA kinase is a 464-amino acid protein that phosphorylates the serine moiety on seryl-tRNA(Sec) to generate O-phosphoseryl-tRNA(Sec). This modification is required for the subsequent conversion to selenocysteyl-tRNA(Sec) by Sep-tRNA:Sec-tRNA synthase (SEPSECS). The enzyme is localized in the cytoplasm and is essential for selenoprotein synthesis.
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|---|---|---|---|---|
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