| Gene Symbol |
PMEL
|
| Entrez Gene |
6490
|
| Alt Symbol |
D12S53E, ME20, ME20-M, ME20M, P1, P100, PMEL17, SI, SIL, SILV, gp100
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
premelanosome protein
|
| Other Description |
melanocyte protein PMEL|melanocyte protein Pmel 17|melanocyte protein mel 17|melanocytes lineage-specific antigen GP100|melanoma-associated ME20 antigen|melanosomal matrix protein17|silver locus protein homolog|silver, mouse, homolog of
|
| Swissprots |
P40967 Q12763 B3KS57 Q16565 Q14448 B7Z6D7 Q14817
|
| Accessions |
AAB00386 AAB19181 CAD10318 CCQ43382 EAW96852 EAW96853 EAW96854 EAW96855 P40967 AK092881 BAG52619 AK130180 AK300150 BAH13223 BC001414 AAH01414 BT007202 AAP35866 CA432578 DA035117 DA633173 EU176186 ABW03637 M32295 AAA35930 M77348 AAA60121 S73003 AAC60634 U01874 AAA18479 XM_006719569 XP_006719632 XM_011538685 XP_011536987 XM_011538686 XP_011536988 XM_011538687 XP_011536989 NM_001200053 NP_001186982 NM_001200054 NP_001186983 NM_006928 NP_008859
|
| Function |
Plays a central role in the biogenesis of melanosomes. Involved in the maturation of melanosomes from stage I to II. The transition from stage I melanosomes to stage II melanosomes involves an elongation of the vesicle, and the appearance within of distinct fibrillar structures. Release of the soluble form, ME20-S, could protect tumor cells from antibody mediated immunity. {ECO:0000269|PubMed:11694580, ECO:0000269|PubMed:21962903}.
|
| Subcellular Location |
Endoplasmic reticulum membrane; Single-pass type I membrane protein. Golgi apparatus. Melanosome. Endosome, multivesicular body. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Localizes predominantly to intralumenal vesicles (ILVs) within multivesicular bodies. Associates with ILVs found within the lumen of premelanosomes and melanosomes and particularly in compartments that serve as precursors to the striated stage II premelanosomes.
|
| Tissue Specificity |
Preferentially expressed in melanomas. Some expression was found in dysplastic nevi. Not found in normal tissues nor in carcinomas. Normally expressed at low levels in quiescent adult melanocytes but overexpressed by proliferating neonatal melanocytes and during tumor growth.
|