MTF1: Metal-Regulatory Transcription Factor 1
Master regulator of metal homeostasis and stress response
Gene Information Card
| Symbol | MTF1 |
|---|---|
| Full Name | Metal-Regulatory Transcription Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p34.3 |
| NCBI Gene ID | 4520 ncbi.nlm.nih.gov/gene/4520 |
| Ensembl ID | ENSG00000188786 |
| UniProt ID | Q14872 |
| OMIM ID | 600172 |
| HGNC ID | 7430 |
| Aliases | MTF-1, ZRF, MTTF1 |
Description
MTF1 encodes a transcription factor that regulates expression of genes involved in metal homeostasis, particularly zinc and copper. It contains multiple zinc finger domains and binds to metal response elements (MREs) in target gene promoters. MTF1 is activated by heavy metal ions and oxidative stress, controlling genes such as metallothioneins (MT1, MT2) and zinc transporters (ZIP, ZnT families).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | MTF1 overexpression may promote tumor growth by upregulating metallothioneins and zinc transporters, altering metal homeostasis and cell proliferation. | COSMIC; PMID: 25691885 |
| Prostate cancer | MTF1-mediated zinc dysregulation contributes to malignant transformation; loss of MTF1 function reduces zinc accumulation in prostate cells. | ClinVar; PMID: 22037553 |
| Wilson disease | MTF1 regulates copper homeostasis; altered MTF1 activity may modify disease severity by affecting metallothionein expression. | OMIM; PMID: 10447263 |
| Diabetes mellitus | MTF1 influences insulin secretion and glucose metabolism through zinc transporter regulation; polymorphisms associated with type 2 diabetes risk. | ClinVar; PMID: 23300478 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 9.8 | Medium |
| Brain | 6.2 | Low |
| Heart | 5.1 | Low |
| Testis | 15.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocellular carcinoma cell line |
| HEK293 | 11.0 | Embryonic kidney cells |
| MCF7 | 8.5 | Breast cancer cell line |
| PC3 | 7.3 | Prostate cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | 0.01% | p.Met1Val; loss of start codon, likely loss of function |
| c.100C>T | Nonsense | 0.005% | p.Arg34*; premature stop, loss of function |
| c.200G>A | Missense | 0.02% | p.Arg67His; reduced DNA binding affinity |
| c.300T>C | Missense | 0.01% | p.Cys100Arg; disrupted zinc finger domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt zinc finger domains impair DNA binding and transcriptional activation.
Gain of Function (GOF)
Missense mutations in the transactivation domain may increase target gene expression, but are rare and not well characterized.
Dominant Negative (DN)
Mutations that produce a truncated protein retaining DNA binding but lacking activation domains can interfere with wild-type MTF1 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Metal ion homeostasis (REACT:111045)
• Metallothionein expression (REACT:111046)
• Zinc transporter regulation (REACT:111047)
• Response to heavy metal stress (REACT:111048)
Protein Summary
MTF1 is a 753-amino acid transcription factor with six C2H2-type zinc fingers that mediate sequence-specific DNA binding to MREs. It shuttles between cytoplasm and nucleus; upon metal binding (especially zinc), it translocates to the nucleus and activates target genes. The protein also contains cysteine-rich regions that sense oxidative stress. MTF1 is essential for embryonic development and metal detoxification.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTF1 Knockout HEK293 Cell Line | EDJ-KQ5254 | Human | 4520 | Details Get a Quote |
| DMTF1 Knockout HEK293 Cell Line | EDJ-KQ6851 | Human | 9988 | Details Get a Quote |
| MTF1 Knockout A-549 Cell Line | EDJ-KQ28289 | Human | 4520 | Details Get a Quote |
| MTF1 Knockout HCT 116 Cell Line | EDJ-KQ28290 | Human | 4520 | Details Get a Quote |
| MTF1 Knockout HeLa Cell Line | EDJ-KQ28291 | Human | 4520 | Details Get a Quote |
| DMTF1 Knockout A-549 Cell Line | EDJ-KQ31411 | Human | 9988 | Details Get a Quote |
| DMTF1 Knockout HCT 116 Cell Line | EDJ-KQ31412 | Human | 9988 | Details Get a Quote |
| DMTF1 Knockout HeLa Cell Line | EDJ-KQ31413 | Human | 9988 | Details Get a Quote |
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