GTSE1: G2 and S-Phase Expressed 1
A cell cycle regulator with roles in mitotic progression and cancer
Gene Information Card
| Symbol | GTSE1 |
|---|---|
| Full Name | G2 and S-phase expressed 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.31 |
| NCBI Gene ID | 51512 ncbi.nlm.nih.gov/gene/51512 |
| Ensembl ID | ENSG00000100226 |
| UniProt ID | Q9NYZ3 |
| OMIM ID | 616447 |
| HGNC ID | 24898 |
| Aliases | GTSE-1, B99, G2 and S phase expressed 1 |
Description
GTSE1 (G2 and S-phase expressed 1) encodes a protein that localizes to the cytoplasm and is involved in cell cycle regulation. It is expressed predominantly during the G2 and S phases of the cell cycle. The protein binds to microtubules and is implicated in mitotic spindle dynamics, cell cycle checkpoint control, and apoptosis. Overexpression of GTSE1 has been observed in various cancers and is associated with poor prognosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of GTSE1 promotes cell proliferation and migration; associated with poor survival | PMID: 28431248 |
| Lung cancer | GTSE1 upregulation correlates with tumor stage and metastasis; may regulate EMT | PMID: 31073084 |
| Hepatocellular carcinoma | High GTSE1 expression linked to aggressive tumor features and shorter overall survival | PMID: 31570756 |
| Colorectal cancer | GTSE1 knockdown reduces cell growth and induces apoptosis in vitro | PMID: 29393419 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.3 | Low |
| Bone marrow | 6.7 | Low |
| Brain | 2.1 | Not detected |
| Heart | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical carcinoma; high expression |
| MCF7 | 11.8 | Breast cancer; moderate expression |
| A549 | 9.4 | Lung cancer; moderate expression |
| HepG2 | 7.1 | Hepatocellular carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | 0.02% (gnomAD) | Unknown functional impact |
| c.1570G>A (p.Glu524Lys) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.1822_1823insA (p.Thr608AsnfsTer2) | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Thr608AsnfsTer2) are predicted to cause premature truncation and loss of protein function.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in GTSE1.
Dominant Negative (DN)
No dominant-negative mutations described for GTSE1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cell cycle (KEGG hsa04110)
• p53 signaling pathway (KEGG hsa04115)
• Microtubule cytoskeleton organization
Protein Summary
GTSE1 is a 739-amino acid protein that contains a C-terminal microtubule-binding domain. It is predominantly cytoplasmic and associates with microtubules, particularly during mitosis. GTSE1 is thought to regulate mitotic spindle assembly and checkpoint signaling. It is also involved in the G2/M DNA damage checkpoint by interacting with p53 and modulating its stability. Overexpression in cancer suggests a role in tumorigenesis by promoting cell cycle progression and inhibiting apoptosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GTSE1 Knockout HEK293 Cell Line | EDJ-KQ2255 | Human | 51512 | Details Get a Quote |
| GTSE1 Knockout A-549 Cell Line | EDJ-KQ21256 | Human | 51512 | Details Get a Quote |
| GTSE1 Knockout HCT 116 Cell Line | EDJ-KQ22572 | Human | 51512 | Details Get a Quote |
| GTSE1 Knockout HeLa Cell Line | EDJ-KQ22573 | Human | 51512 | Details Get a Quote |
