MT1A (Metallothionein 1A)
A cysteine-rich metal-binding protein involved in heavy metal detoxification, zinc homeostasis, and oxidative stress response.
Gene Information Card
| Symbol | MT1A |
|---|---|
| Full Name | Metallothionein 1A |
| Gene Type | protein-coding |
| Chromosomal Location | 16q13 |
| NCBI Gene ID | 4489 ncbi.nlm.nih.gov/gene/4489 |
| Ensembl ID | ENSG00000205362 |
| UniProt ID | P04731 |
| OMIM ID | 156350 |
| HGNC ID | 7393 |
| Aliases | MT1, MT-1A, MTC, MT1S |
Description
MT1A encodes a member of the metallothionein family of low molecular weight, cysteine-rich proteins. These proteins bind heavy metals (e.g., zinc, cadmium, copper) and play key roles in metal detoxification, zinc homeostasis, and protection against oxidative stress. MT1A is inducible by metals, glucocorticoids, and cytokines.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered MT1A expression may affect metal homeostasis and oxidative stress, influencing tumor progression and chemotherapy resistance. | ClinVar, COSMIC |
| Zinc deficiency | Reduced MT1A expression impairs zinc buffering capacity. | OMIM |
| Cadmium toxicity | MT1A binds cadmium, reducing its toxic effects; polymorphisms may alter susceptibility. | NCBI Gene, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Small intestine | 6.1 | Low |
| Pancreas | 4.7 | Low |
| Lung | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocellular carcinoma cell line; high MT1A expression |
| HEK293 | 7.8 | Embryonic kidney cells; moderate expression |
| A549 | 4.1 | Lung carcinoma cells; low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs11640851 (c.142G>A, p.Ala48Thr) | Missense | 0.02 (global) | May alter metal-binding affinity; associated with altered zinc homeostasis |
| rs8052394 (c.20C>T, p.Thr7Ile) | Missense | 0.01 (global) | Potential impact on protein stability |
Mutation functional classification
Loss of Function (LOF)
Rare nonsense or frameshift mutations predicted to truncate the protein, reducing metal-binding capacity.
Gain of Function (GOF)
Not well documented; overexpression in some cancers may confer resistance to metal-based chemotherapeutics.
Dominant Negative (DN)
No known dominant-negative mutations reported.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Metallothioneins bind metals (Reactome: R-HSA-5661231)
• Cellular response to zinc excess (Reactome: R-HSA-435354)
Protein Summary
Metallothionein-1A is a small (61 amino acids), cysteine-rich protein (20 cysteines) that binds up to 7 divalent metal ions (e.g., Zn2+, Cd2+, Cu2+) via thiolate clusters. It functions in metal detoxification, zinc homeostasis, and as an antioxidant. The protein is predominantly cytosolic but can translocate to the nucleus under stress.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CKMT1A Knockout HEK293 Cell Line | EDJ-KQ12176 | Human | 548596 | Details Get a Quote |
| TMT1A Knockout HEK293 Cell Line | EDJ-KQ15864 | Human | 25840 | Details Get a Quote |
| CKMT1A Knockout A-549 Cell Line | EDJ-KQ42142 | Human | 548596 | Details Get a Quote |
| CKMT1A Knockout HCT 116 Cell Line | EDJ-KQ42144 | Human | 548596 | Details Get a Quote |
| CKMT1A Knockout HeLa Cell Line | EDJ-KQ42145 | Human | 548596 | Details Get a Quote |
| TMT1A Knockout HeLa Cell Line | EDJ-KQ49073 | Human | 25840 | Details Get a Quote |
| MT1A Knockout HEK293 Cell Line | EDJ-KQ50449 | Human | 4489 | Details Get a Quote |
| MT1A Knockout HeLa Cell Line | EDJ-KQ53907 | Human | 4489 | Details Get a Quote |
| MT1A Knockout A-549 Cell Line | EDJ-KQ62400 | Human | 4489 | Details Get a Quote |
| TMT1A Knockout A-549 Cell Line | EDJ-KQ64321 | Human | 25840 | Details Get a Quote |
| MT1A Knockout HCT 116 Cell Line | EDJ-KQ70867 | Human | 4489 | Details Get a Quote |
| TMT1A Knockout HCT 116 Cell Line | EDJ-KQ72774 | Human | 25840 | Details Get a Quote |
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