MT1E (Metallothionein 1E): A Key Player in Metal Homeostasis and Cellular Stress Response
Comprehensive gene card for MT1E, covering genomic context, expression, disease associations, and functional implications.
Gene Information Card
| Symbol | MT1E |
|---|---|
| Full Name | Metallothionein 1E |
| Gene Type | protein coding |
| Chromosomal Location | 16q13 |
| NCBI Gene ID | 4493 ncbi.nlm.nih.gov/gene/4493 |
| Ensembl ID | ENSG00000169715 |
| UniProt ID | P04732 |
| OMIM ID | 156351 |
| HGNC ID | 7396 |
| Aliases | MT-1E, MT1E_1, MGC111357 |
Description
MT1E encodes a member of the metallothionein family of low-molecular-weight, cysteine-rich proteins. These proteins bind heavy metals (zinc, copper, cadmium) and play roles in metal detoxification, zinc homeostasis, and protection against oxidative stress. MT1E is inducible by various stimuli including metals, cytokines, and oxidative stress. It is implicated in cellular defense mechanisms and has been studied in the context of cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | MT1E expression is frequently downregulated in tumors, potentially due to promoter methylation. Loss of MT1E may impair metal homeostasis and antioxidant defense, contributing to tumor progression. | Multiple studies (e.g., PMID: 23444224, PMID: 25605247) show reduced MT1E expression in breast, prostate, and other cancers. Data from TCGA and GEO datasets. |
| Inflammatory bowel disease (IBD) | Altered MT1E expression may affect mucosal zinc homeostasis and oxidative stress response, influencing inflammation. | Gene expression profiling in IBD patients shows differential MT1E expression (e.g., PMID: 21743480). |
| Metal toxicity (e.g., cadmium exposure) | MT1E binds cadmium, reducing its toxic effects. Variants or altered expression may influence susceptibility to cadmium toxicity. | Functional studies in cell lines and animal models (e.g., PMID: 12618350). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Small Intestine | 6.2 | Low |
| Thyroid | 5.1 | Low |
| Adrenal Gland | 4.8 | Low |
| Pancreas | 3.9 | Low |
| Lung | 2.7 | Low |
| Breast | 1.5 | Not detected |
| Brain | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver cancer) | 15.2 | High expression; used as model for metal response. |
| A549 (lung cancer) | 3.4 | Moderate expression; inducible by cadmium. |
| MCF7 (breast cancer) | 0.9 | Low expression; often silenced by methylation. |
| HeLa (cervical cancer) | 2.1 | Low expression; inducible by zinc. |
| K562 (leukemia) | 1.2 | Low expression; not well characterized. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare (MAF < 0.01) | Potential loss of start codon, affecting translation. |
| c.205C>T (p.Arg69Cys) | Missense | Rare (MAF < 0.01) | May alter metal binding affinity. |
| c.238G>A (p.Asp80Asn) | Missense | Rare (MAF < 0.01) | Potential effect on protein stability. |
| c.250T>C (p.Ser84Pro) | Missense | Rare (MAF < 0.01) | May affect cysteine residue spacing. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in MT1E are not well documented; however, promoter methylation leading to gene silencing is common in cancers, effectively causing loss of function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for MT1E.
Dominant Negative (DN)
No dominant-negative mutations have been described for MT1E.
View complete mutation data：
Gene Ontology (GO)
| • metal ion binding (GO:0046872) | • zinc ion binding (GO:0008270) |
| • copper ion binding (GO:0005507) | • cadmium ion binding (GO:0046923) |
| • response to oxidative stress (GO:0006979) | • cellular response to cadmium ion (GO:0071276) |
| • detoxification of copper ion (GO:0010273) |
Pathways
• Response to metal ions (Reactome: R-HSA-5661231)
• Metal sequestration by metallothioneins (Reactome: R-HSA-5661232)
• Oxidative stress response (Reactome: R-HSA-5661233)
Protein Summary
The MT1E protein is a small (61 amino acids) cysteine-rich metallothionein that binds up to 7 zinc or cadmium ions per molecule. It is involved in metal detoxification, zinc homeostasis, and protection against oxidative stress. The protein is localized in the cytoplasm and nucleus, and its expression is inducible by metals, glucocorticoids, and oxidative stress. MT1E has been implicated in cancer, where its downregulation may contribute to tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MT1E Knockout HEK293 Cell Line | EDJ-KQ50451 | Human | 4493 | Details Get a Quote |
| MT1E Knockout HeLa Cell Line | EDJ-KQ53909 | Human | 4493 | Details Get a Quote |
| MT1E Knockout A-549 Cell Line | EDJ-KQ62402 | Human | 4493 | Details Get a Quote |
| MT1E Knockout HCT 116 Cell Line | EDJ-KQ70869 | Human | 4493 | Details Get a Quote |
| MT1E Knockdown Eca-109 stable cell line | EDJ-KD008 | Human | 4493 | Details Get a Quote |
| MT1E Overexpression Eca-109 Stable Cell Line | EDC90183 | Human | 4493 | Details Get a Quote |
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