| Gene Symbol |
MLANA
|
| Entrez Gene |
2315
|
| Alt Symbol |
MART-1, MART1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
melan-A
|
| Other Description |
antigen LB39-AA|antigen SK29-AA|melanoma antigen recognized by T-cells 1|protein Melan-A
|
| Swissprots |
Q6ICU4 Q16655
|
| Accessions |
CAC37866 CAD79827 EAW58755 EAW58756 Q16655 AK312149 BAG35083 BC014423 AAH14423 CR450299 CAG29295 DQ892257 ABM83183 DQ895459 ABM86385 U06452 AAA19238 U06654 AAA20389 NM_005511 NP_005502
|
| Function |
Involved in melanosome biogenesis by ensuring the stability of GPR143. Plays a vital role in the expression, stability, trafficking, and processing of melanocyte protein PMEL, which is critical to the formation of stage II melanosomes. {ECO:0000269|PubMed:15695812, ECO:0000269|PubMed:19717472}.
|
| Subcellular Location |
Endoplasmic reticulum membrane; Single-pass type III membrane protein. Golgi apparatus. Golgi apparatus, trans-Golgi network membrane. Melanosome. Note=Also found in small vesicles and tubules dispersed over the entire cytoplasm. A small fraction of the protein is inserted into the membrane in an inverted orientation. Inversion of membrane topology results in the relocalization of the protein from a predominant Golgi/post- Golgi area to the endoplasmic reticulum. Melanoma cells expressing the protein with an inverted membrane topology are more effectively recognized by specific cytolytic T-lymphocytes than those expressing the protein in its native membrane orientation.
|
| Tissue Specificity |
Expression is restricted to melanoma and melanocyte cell lines and retina.
|
