InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PMEL

Summary

InnateDB Protein

IDBP-592710.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PMEL

Protein Name

premelanosome protein

Synonyms

D12S53E; gp100; ME20; ME20-M; ME20M; P1; P100; PMEL17; SI; SIL; SILV;

Species

Homo sapiens

Ensembl Protein

ENSP00000449690

InnateDB Gene

IDBG-39485 (PMEL)

Protein Structure

UniProt Annotation

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:0000269PubMed:11694580, ECO:0000269PubMed:21962903}.

Subcellular Localization

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.M-alpha: Secreted.

Disease Associations

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.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	0
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0032438

melanosome organization

Cellular Component

GO:0005576	extracellular region
GO:0005789	endoplasmic reticulum membrane
GO:0005794	Golgi apparatus
GO:0005886	plasma membrane
GO:0016021	integral component of membrane
GO:0032585	multivesicular body membrane
GO:0042470	melanosome