CLPTM1L Gene: Cisplatin Resistance and Cancer Susceptibility
CLPTM1L (CLPTM1 Like) is a gene implicated in cisplatin resistance and susceptibility to lung cancer and other malignancies.
Gene Information Card
| Symbol | CLPTM1L |
|---|---|
| Full Name | CLPTM1 Like |
| Gene Type | Protein coding |
| Chromosomal Location | 5p15.33 |
| NCBI Gene ID | 81037 ncbi.nlm.nih.gov/gene/81037 |
| Ensembl ID | ENSG00000164362 |
| UniProt ID | Q96KA5 |
| OMIM ID | 612585 |
| HGNC ID | 24307 |
| Aliases | CRR9, FLJ14490, MGC71820 |
Description
CLPTM1L (CLPTM1 Like) is a protein-coding gene located on chromosome 5p15.33. It encodes a transmembrane protein that is upregulated in response to cisplatin and other DNA-damaging agents. The protein is involved in apoptosis regulation and has been associated with cisplatin resistance in cancer cells. Polymorphisms in CLPTM1L are linked to increased risk of lung cancer and other cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung Cancer (susceptibility) | Polymorphisms (e.g., rs401681) increase risk; mechanism involves altered apoptosis and DNA damage response | OMIM 612585; multiple GWAS studies |
| Cisplatin Resistance | Overexpression of CLPTM1L protects cells from cisplatin-induced apoptosis | NCBI Gene; PubMed studies |
| Pancreatic Cancer | Risk variant rs401681 also associated with pancreatic cancer susceptibility | OMIM; GWAS catalog |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Pancreas | 8.3 | Medium |
| Testis | 6.7 | Low |
| Kidney | 5.9 | Low |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung cancer) | 15.2 | High expression; cisplatin resistant line |
| HeLa (cervical) | 10.1 | Moderate expression |
| HEK293 (embryonic kidney) | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs401681 (C>T) | SNP | 0.35 (global) | Intronic; associated with cancer risk |
| rs31489 (A>G) | SNP | 0.28 (European) | Intronic; lung cancer risk |
| c.1072C>T (p.Arg358Trp) | Missense | <0.01 | Rare; functional impact unknown |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; no confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
Overexpression of wild-type CLPTM1L is associated with cisplatin resistance, suggesting a gain-of-function phenotype in cancer.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • apoptotic process (GO:0006915) | • integral component of membrane (GO:0016021) |
| • cellular response to DNA damage stimulus (GO:0006974) | • negative regulation of apoptotic process (GO:0043066) |
Pathways
• Cisplatin resistance pathway
• Apoptosis modulation
Protein Summary
CLPTM1L is a 538-amino acid transmembrane protein with multiple membrane-spanning domains. It localizes to the endoplasmic reticulum and plasma membrane. The protein is induced by cisplatin and other genotoxic agents, and its expression protects cells from apoptosis, contributing to chemoresistance. Structural studies suggest it may function as a transporter or channel, but the exact biochemical activity remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLPTM1L Knockout HEK293 Cell Line | EDJ-KQ9604 | Human | 81037 | Details Get a Quote |
| CLPTM1L Knockout HeLa Cell Line | EDJ-KQ35173 | Human | 81037 | Details Get a Quote |
| CLPTM1L Knockout A-549 Cell Line | EDJ-KQ36432 | Human | 81037 | Details Get a Quote |
| CLPTM1L Knockout HCT 116 Cell Line | EDJ-KQ36433 | Human | 81037 | Details Get a Quote |
