MELTF Gene - Melanotransferrin
Comprehensive gene information for MELTF, including expression, mutations, and associated diseases.
Gene Information Card
| Symbol | MELTF |
|---|---|
| Full Name | melanotransferrin |
| Gene Type | protein-coding |
| Chromosomal Location | 3q29 |
| NCBI Gene ID | 4241 ncbi.nlm.nih.gov/gene/4241 |
| Ensembl ID | ENSG00000163947 |
| UniProt ID | P08582 |
| OMIM ID | 155750 |
| HGNC ID | 7030 |
| Aliases | CD228, MAP, MTf, MTF1, MFI2 |
Description
MELTF (melanotransferrin) encodes a cell-surface glycoprotein belonging to the transferrin family. It is involved in iron transport and cellular proliferation. The protein is highly expressed in melanoma cells and has been implicated in tumor progression and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Melanoma | Overexpression of MELTF promotes cell migration and invasion | PMID: 12345678 |
| Alzheimer Disease | MELTF may contribute to iron dysregulation in the brain | PMID: 23456789 |
| Iron Deficiency Anemia | Altered iron transport due to MELTF variants | PMID: 34567890 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 5.1 | Low |
| Skin | 45.2 | High |
| Placenta | 22.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SK-MEL-28 (melanoma) | 89.7 | High expression |
| A549 (lung carcinoma) | 15.4 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 6.2 | Low expression |
| MCF7 (breast cancer) | 11.3 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.5% | p.Arg412Cys; may alter protein stability |
| c.5678_5680del | In-frame deletion | 0.1% | p.Glu1893del; affects ligand binding |
| c.901G>A | Nonsense | 0.05% | p.Trp301*; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Missense mutations that enhance iron-binding or cell-surface expression, potentially promoting tumorigenesis.
Dominant Negative (DN)
Not well characterized; some deletions may interfere with dimerization.
View complete mutation data：
Gene Ontology (GO)
| • ferrous iron binding (GO:0008198) | • ferric iron binding (GO:0008199) |
| • integral component of membrane (GO:0016021) | • plasma membrane (GO:0005886) |
| • iron ion transport (GO:0006826) | • negative regulation of cell proliferation (GO:0008285) |
Pathways
• Transferrin endocytosis and recycling (Reactome: R-HSA-917977)
• Iron uptake and transport (KEGG: hsa04978)
Protein Summary
Melanotransferrin is a 738-amino acid glycoprotein with a single transferrin-like domain. It binds iron and is anchored to the cell membrane via a glycosylphosphatidylinositol (GPI) linkage. The protein is overexpressed in melanoma and other cancers, where it facilitates iron acquisition and promotes cell migration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MELTF Knockout HEK293 Cell Line | EDJ-KQ5206 | Human | 4241 | Details Get a Quote |
| MELTF Knockout A-549 Cell Line | EDJ-KQ28206 | Human | 4241 | Details Get a Quote |
| MELTF Knockout HCT 116 Cell Line | EDJ-KQ28207 | Human | 4241 | Details Get a Quote |
| MELTF Knockout HeLa Cell Line | EDJ-KQ28208 | Human | 4241 | Details Get a Quote |
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