PTTG1IP: Pituitary Tumor-Transforming Gene 1 Interacting Protein
A key regulator of PTTG1 stability and function in cell cycle control and tumorigenesis
Gene Information Card
| Symbol | PTTG1IP |
|---|---|
| Full Name | Pituitary Tumor-Transforming Gene 1 Interacting Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.3 |
| NCBI Gene ID | 754 ncbi.nlm.nih.gov/gene/754 |
| Ensembl ID | ENSG00000160211 |
| UniProt ID | O95905 |
| OMIM ID | 604855 |
| HGNC ID | 9629 |
| Aliases | PTTG1IP, PTTG1IP1, C21orf1, PTTG1IP1 |
Description
PTTG1IP (Pituitary Tumor-Transforming Gene 1 Interacting Protein) encodes a protein that interacts with PTTG1 (pituitary tumor-transforming gene 1), a securin protein involved in cell cycle regulation and sister chromatid separation. PTTG1IP stabilizes PTTG1 by preventing its ubiquitin-mediated degradation, thereby promoting cell proliferation and tumorigenesis. The gene is located on chromosome 21q22.3 and is expressed in multiple tissues, with highest levels in testis and fetal tissues. Overexpression of PTTG1IP has been implicated in various cancers, including pituitary adenomas, breast cancer, and colorectal cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pituitary adenoma | PTTG1IP overexpression stabilizes PTTG1, leading to increased cell proliferation and aneuploidy | PMID: 10615125 |
| Breast cancer | PTTG1IP upregulation correlates with poor prognosis and enhanced tumor growth | PMID: 15604211 |
| Colorectal cancer | PTTG1IP promotes tumor progression via PTTG1 stabilization and beta-catenin activation | PMID: 18593906 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Fetal brain | 8.3 | Medium |
| Placenta | 6.1 | Medium |
| Liver | 2.4 | Low |
| Heart | 1.8 | 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 |
| HEK293 | 7.3 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Potential loss of start codon |
| c.214C>T (p.Arg72Trp) | Missense | 0.2% | Unknown functional effect |
| c.345G>A (p.Val115Ile) | Missense | 0.1% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in COSMIC or ClinVar.
Gain of Function (GOF)
Overexpression is the primary gain-of-function mechanism in cancer.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) | • identical protein binding (GO:0042802) |
| • cell division (GO:0051301) |
Pathways
• Cell cycle - KEGG hsa04110
• p53 signaling pathway - KEGG hsa04115
• PTTG1 regulation of sister chromatid separation - Reactome R-HSA-2467813
Protein Summary
PTTG1IP is a 180-amino acid protein (UniProt O95905) that localizes to both the cytoplasm and nucleus. It functions primarily as a stabilizing partner for PTTG1 (securin), protecting it from proteasomal degradation. This interaction promotes cell cycle progression and inhibits premature sister chromatid separation. PTTG1IP also interacts with beta-catenin, contributing to Wnt signaling activation. The protein is overexpressed in multiple cancer types and is considered a potential therapeutic target.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTTG1IP2 Knockout HEK293 Cell Line | EDJ-KQ14958 | Human | 102723899 | 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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