InnateDB Protein
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IDBP-583564.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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PMEL
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Protein Name
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premelanosome protein
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Synonyms
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D12S53E; gp100; ME20; ME20-M; ME20M; P1; P100; PMEL17; SI; SIL; SILV;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000450036
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InnateDB Gene
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IDBG-39485 (PMEL)
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Protein Structure
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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}.
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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.
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Disease Associations |
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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.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
2
[view]
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Protein-Protein |
0
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Protein-DNA |
2
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000601
PKD domain
IPR022409
PKD/Chitinase domain
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PFAM |
PF00801
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PRINTS |
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PIRSF |
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SMART |
SM00089
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TIGRFAMs |
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Modification |
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SwissProt |
P40967
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PhosphoSite |
PhosphoSite-P40967
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
6490
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UniGene |
Hs.95972
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RefSeq |
NP_001186982
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HUGO |
HGNC:10880
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OMIM |
155550
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CCDS |
CCDS55833
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HPRD |
01117
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IMGT |
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EMBL |
AC025162
AK092881
AK300150
BC001414
BT007202
CH471054
M32295
M77348
S73003
U01874
U19491
U20093
U31797
U31798
U31799
U31807
U31808
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GenPept |
AAA18479
AAA35930
AAA60121
AAB00386
AAB19181
AAC60634
AAH01414
AAP35866
BAG52619
BAH13223
EAW96853
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