TPD52L1 Gene - Tumor Protein D52-Like 1
Comprehensive genomic and functional analysis of TPD52L1, a member of the D52 protein family implicated in cancer and cell proliferation.
Gene Information Card
| Symbol | TPD52L1 |
|---|---|
| Full Name | Tumor Protein D52-Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q22.31 |
| NCBI Gene ID | 7164 ncbi.nlm.nih.gov/gene/7164 |
| Ensembl ID | ENSG00000111897 |
| UniProt ID | Q16890 |
| OMIM ID | 604069 |
| HGNC ID | 12005 |
| Aliases | D53, hD53, TPD52L1 |
Description
TPD52L1 (Tumor Protein D52-Like 1) is a protein-coding gene belonging to the D52 family. It is involved in cell proliferation, calcium signaling, and vesicle trafficking. Overexpression is observed in various cancers, including breast, prostate, and lung cancer, suggesting a role in tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Overexpression promotes cell proliferation and migration | PubMed, COSMIC |
| Prostate Cancer | Upregulation associated with aggressive phenotype | PubMed, COSMIC |
| Lung Cancer | Altered expression linked to poor prognosis | PubMed, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Breast | 12.5 | Medium |
| Prostate | 8.3 | Low |
| Lung | 15.1 | Medium |
| Brain | 2.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 18.2 | High expression |
| PC3 (prostate cancer) | 9.7 | Moderate expression |
| A549 (lung cancer) | 14.5 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200A>G (p.Asn67Ser) | Missense | <0.1% | Unknown significance |
| c.341C>T (p.Pro114Leu) | Missense | <0.1% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
Overexpression in cancer suggests potential gain-of-function role.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • cell proliferation (GO:0008283) | • membrane (GO:0016020) |
Pathways
• Calcium signaling pathway
• Vesicle-mediated transport
Protein Summary
TPD52L1 encodes a 184-amino acid protein (UniProt Q16890) that localizes to the cytoplasm and membrane. It interacts with calcium-binding proteins and is implicated in vesicle trafficking and cell cycle regulation. The protein is frequently upregulated in cancers, contributing to tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TPD52L1 Knockout HEK293 Cell Line | EDJ-KQ5958 | Human | 7164 | Details Get a Quote |
| TPD52L1 Knockout A-549 Cell Line | EDJ-KQ28246 | Human | 7164 | Details Get a Quote |
| TPD52L1 Knockout HCT 116 Cell Line | EDJ-KQ29523 | Human | 7164 | Details Get a Quote |
| TPD52L1 Knockout HeLa Cell Line | EDJ-KQ29524 | Human | 7164 | Details Get a Quote |
