PMEL
Gene Information
- Official Symbol: PMEL
- Official Name: premelanosome protein
- Aliases and Previous Symbols: N/A
- Entrez ID: 6490
- UniProt: P40967
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: This gene encodes a melanocyte-specific type I transmembrane glycoprotein. The encoded protein is enriched in melanosomes, which are the melanin-producing organelles in melanocytes, and plays an essential role in the structural organization of premelanosomes. This protein is involved in generating internal matrix fibers that define the transition from Stage I to Stage II melanosomes. This protein undergoes a complex pattern of prosttranslational processing and modification that is essential to the proper functioning of the protein. A secreted form of this protein that is released by proteolytic ectodomain shedding may be used as a melanoma-specific serum marker. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011].
- UniProt Summary: 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}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 7085
- Expression level (log2 read counts): 1.31
PMEL Expression in NALM6 Cells: 1.31
