MLANA (Melan-A) Gene
Melanocyte differentiation antigen and melanoma biomarker
Gene Information Card
| Symbol | MLANA |
|---|---|
| Full Name | Melan-A |
| Gene Type | protein-coding |
| Chromosomal Location | 9p24.1 |
| NCBI Gene ID | 2315 ncbi.nlm.nih.gov/gene/2315 |
| Ensembl ID | ENSG00000139155 |
| UniProt ID | Q16655 |
| OMIM ID | 605513 |
| HGNC ID | 7124 |
| Aliases | MART1, MART-1, Melan-A, MLANA |
Description
MLANA (Melan-A) encodes a melanocyte differentiation antigen recognized by cytotoxic T lymphocytes. The protein is a transmembrane transporter involved in melanosome biogenesis and is a key target for immunotherapy in melanoma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Melanoma | Tumor antigen recognized by autologous cytotoxic T cells; overexpression in malignant melanocytes | OMIM: 605513; ClinVar; COSMIC |
| Vitiligo | Autoimmune destruction of melanocytes expressing Melan-A | OMIM: 605513; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | nTPM: 112.5 | High |
| Eye (retina) | nTPM: 45.2 | Medium |
| Brain (substantia nigra) | nTPM: 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SK-MEL-28 (melanoma) | nTPM: 245.0 | High expression |
| A375 (melanoma) | nTPM: 198.3 | High expression |
| HEK293 (embryonic kidney) | nTPM: 0.5 | No significant expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.94G>A (p.Gly32Arg) | Missense | 0.2% in melanoma (COSMIC) | Altered T-cell recognition |
| c.200C>T (p.Thr67Met) | Missense | 0.1% in melanoma (COSMIC) | Reduced antigen presentation |
| c.1-?_*_del | Deletion | Rare | Loss of expression |
Mutation functional classification
Loss of Function (LOF)
Deletions or nonsense mutations leading to loss of Melan-A expression, reducing immune recognition.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane (GO:0005886) | • integral component of membrane (GO:0016021) |
| • melanosome membrane (GO:0033162) | • transport (GO:0006810) |
| • immune response (GO:0006955) |
Pathways
• Melanogenesis (KEGG: hsa04916)
• Antigen processing and presentation (KEGG: hsa04612)
Protein Summary
Melan-A (MART1) is a 118-amino acid transmembrane protein localized to melanosomes and the plasma membrane. It functions in melanosome biogenesis and is a major target for T-cell-based immunotherapy in melanoma. The protein is highly expressed in melanocytes and melanoma cells, making it a diagnostic and therapeutic biomarker.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MLANA Knockout HEK293 Cell Line | EDJ-KQ2167 | Human | 2315 | Details Get a Quote |
| MLANA Knockout HeLa Cell Line | EDJ-KQ53249 | Human | 2315 | Details Get a Quote |
| MLANA Knockout A-549 Cell Line | EDJ-KQ61732 | Human | 2315 | Details Get a Quote |
| MLANA Knockout HCT 116 Cell Line | EDJ-KQ70218 | Human | 2315 | Details Get a Quote |
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