TCHP (Trichoplein, Keratin Filament Binding)
A gene encoding a keratin-binding protein involved in cell structure, ciliogenesis, and potential tumor suppression.
Gene Information Card
| Symbol | TCHP |
|---|---|
| Full Name | Trichoplein, Keratin Filament Binding |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.11 |
| NCBI Gene ID | 84260 ncbi.nlm.nih.gov/gene/84260 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q9BT92 |
| OMIM ID | 613201 |
| HGNC ID | HGNC:28413 |
| Aliases | TCHP1, trichohyalin-like 1, FLJ20628 |
Description
TCHP encodes trichoplein, a protein that binds keratin intermediate filaments and is involved in maintaining epithelial cell integrity. It also localizes to the centrosome and regulates ciliogenesis by modulating the activity of the Aurora A kinase. TCHP has been implicated in cell cycle control, mitochondrial function, and tumor suppression. Loss of TCHP expression is observed in several cancers, suggesting a role in oncogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Loss of TCHP expression correlates with poor prognosis; may act as a tumor suppressor via regulation of cell proliferation and apoptosis. | PMID: 23431137 |
| Colorectal cancer | Reduced TCHP expression associated with tumor progression and metastasis; potential biomarker. | PMID: 26045209 |
| Ciliopathies | TCHP mutations or dysregulation impair ciliogenesis, leading to defects in primary cilia formation. | PMID: 24076653 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Esophagus | 10.2 | Medium |
| Breast | 8.1 | Medium |
| Lung | 6.3 | Low |
| Colon | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 8.5 | Moderate expression |
| A549 (lung cancer) | 4.2 | Low expression |
| HeLa (cervical cancer) | 7.0 | Moderate expression |
| HCT116 (colorectal cancer) | 5.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163*) | Nonsense | <0.1% | Loss of function; truncation |
| c.632A>G (p.Glu211Gly) | Missense | <0.1% | Unknown significance |
| c.1015_1016insA | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in TCHP lead to truncated or absent protein, impairing keratin binding and ciliogenesis, and are associated with increased cancer risk.
Gain of Function (GOF)
No documented gain-of-function mutations for TCHP.
Dominant Negative (DN)
No evidence of dominant-negative effects for TCHP mutations.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ciliogenesis (Aurora A signaling)
• Keratin filament organization
• Cell cycle regulation
Protein Summary
Trichoplein is a 60 kDa protein that binds keratin intermediate filaments, contributing to epithelial cell structural integrity. It also localizes to the centrosome where it interacts with Aurora A kinase to regulate ciliogenesis. TCHP is involved in cell cycle progression and mitochondrial function. Reduced expression is observed in multiple cancers, suggesting a tumor suppressor role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TCHP Knockout HEK293 Cell Line | EDJ-KQ10037 | Human | 84260 | Details Get a Quote |
| TCHP Knockout A-549 Cell Line | EDJ-KQ37037 | Human | 84260 | Details Get a Quote |
| TCHP Knockout HCT 116 Cell Line | EDJ-KQ37038 | Human | 84260 | Details Get a Quote |
| TCHP Knockout HeLa Cell Line | EDJ-KQ37039 | Human | 84260 | Details Get a Quote |
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