| Gene Symbol |
Pmel
|
| Entrez Gene |
20431
|
| Alt Symbol |
D10H12S53E, D12S53Eh, Pmel17, Si, Silv, gp100, gp87
|
| Species |
Mouse
|
| Gene Type |
protein-coding
|
| Description |
premelanosome protein
|
| Other Description |
melanocyte protein PMEL|melanocyte protein pmel 17|silver locus protein
|
| Swissprots |
Q60696
|
| Accessions |
AAF19760 EDL24601 EDL24602 Q60696 AF119092 AAF19761 AK012808 BAB28486 AK131956 BAE20900 AK178741 AK181412 AK182074 AK182415 AK182837 AK184547 AK186888 AK191933 AK195401 AK197730 AK201794 AK204124 AK207055 AK207213 AK208589 AK210548 AK211442 AK214408 AK214497 AK217723 AK218557 AK219470 AK219862 BC075667 BC082555 AAH82555 FJ541090 U14133 AAA69538 XM_006513405 XP_006513468 NM_021882 NP_068682
|
| 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 (By similarity). {ECO:0000250}.
|
| Subcellular Location |
Endoplasmic reticulum membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Golgi apparatus {ECO:0000250}. Melanosome {ECO:0000250}. Endosome, multivesicular body {ECO:0000250}. Note=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 (By similarity). {ECO:0000250}.
|
| Tissue Specificity |
Preferentially expressed in melanocytes.
|