PTTG1
Pituitary Tumor-Transforming Gene 1
Gene Information Card
| Symbol | PTTG1 |
|---|---|
| Full Name | Pituitary Tumor-Transforming Gene 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 5q35.1 |
| NCBI Gene ID | 9232 ncbi.nlm.nih.gov/gene/9232 |
| Ensembl ID | ENSG00000164911 |
| UniProt ID | O95997 |
| OMIM ID | 604147 |
| HGNC ID | 9690 |
| Aliases | PTTG, HPTTG, securin, TUTR1 |
Description
PTTG1 (pituitary tumor-transforming gene 1) encodes securin, a protein that inhibits separase activity to prevent premature sister chromatid separation during mitosis. It also functions as a transcription factor and is involved in cell cycle regulation, DNA repair, and angiogenesis. Overexpression of PTTG1 is oncogenic and associated with tumorigenesis, metastasis, and poor prognosis in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pituitary adenoma | Overexpression of PTTG1 promotes cell proliferation and inhibits apoptosis, contributing to pituitary tumorigenesis. | PMID: 10615125 |
| Thyroid carcinoma | PTTG1 overexpression correlates with tumor invasiveness and metastasis via activation of bFGF and VEGF. | PMID: 12612542 |
| Breast cancer | High PTTG1 expression is associated with poor prognosis and hormone receptor-negative status. | PMID: 15604206 |
| Colorectal cancer | PTTG1 upregulation promotes chromosomal instability and aneuploidy. | PMID: 17563756 |
| Hepatocellular carcinoma | PTTG1 overexpression enhances cell proliferation and migration through PI3K/Akt signaling. | PMID: 19543321 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Pituitary gland | 8.3 | Medium |
| Thyroid | 6.1 | Medium |
| Breast | 3.2 | Low |
| Colon | 2.8 | Low |
| Liver | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| MCF7 | 10.8 | Breast cancer cell line |
| HCT116 | 9.5 | Colorectal cancer cell line |
| HepG2 | 7.3 | Hepatocellular carcinoma cell line |
| A549 | 6.1 | Lung cancer cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.202C>T (p.Arg68Trp) | Missense | <0.1% | Unknown functional effect |
| c.341G>A (p.Arg114His) | Missense | <0.1% | Unknown functional effect |
| Amplification | Copy number gain | 5-10% in various cancers | Increased expression and oncogenic activity |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; rare truncating mutations may reduce securin function leading to mitotic defects.
Gain of Function (GOF)
Overexpression and amplification are common gain-of-function events that promote aneuploidy and tumorigenesis.
Dominant Negative (DN)
No dominant-negative mutations have been reported for PTTG1.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Cell Cycle
• Mitotic (Reactome: R-HSA-69278)
• Separation of Sister Chromatids (Reactome: R-HSA-2467813)
• p53-Independent DNA Damage Response (KEGG: hsa04115)
Protein Summary
Securin (PTTG1) is a 202-amino acid protein that binds and inhibits separase, preventing premature separation of sister chromatids. It is degraded at the metaphase-to-anaphase transition via the APC/C complex. PTTG1 also has transactivation activity and regulates expression of genes such as bFGF, VEGF, and c-myc. Its overexpression disrupts normal mitotic checkpoints, leading to chromosomal instability and tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTTG1 Knockout HEK293 Cell Line | EDJ-KQ2864 | Human | 9232 | Details Get a Quote |
| PTTG1IP2 Knockout HEK293 Cell Line | EDJ-KQ14958 | Human | 102723899 | Details Get a Quote |
| PTTG1 Knockout A-549 Cell Line | EDJ-KQ23888 | Human | 9232 | Details Get a Quote |
| PTTG1 Knockout HCT 116 Cell Line | EDJ-KQ23889 | Human | 9232 | Details Get a Quote |
| PTTG1 Knockout HeLa Cell Line | EDJ-KQ23890 | Human | 9232 | Details Get a Quote |
| PTTG1IP2 Knockout A-549 Cell Line | EDJ-KQ45428 | Human | 102723899 | Details Get a Quote |
| PTTG1IP2 Knockout HCT 116 Cell Line | EDJ-KQ45429 | Human | 102723899 | Details Get a Quote |
| PTTG1IP2 Knockout HeLa Cell Line | EDJ-KQ45430 | Human | 102723899 | Details Get a Quote |
| PTTG1IP Knockout HEK293 Cell Line | EDJ-KQ50169 | Human | 754 | Details Get a Quote |
| PTTG1IP Knockout HeLa Cell Line | EDJ-KQ52757 | Human | 754 | Details Get a Quote |
| PTTG1IP Knockout A-549 Cell Line | EDJ-KQ61227 | Human | 754 | Details Get a Quote |
| PTTG1IP Knockout HCT 116 Cell Line | EDJ-KQ69725 | Human | 754 | Details Get a Quote |
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