Gene Information
Gene NameSILV
OrganismHomo sapiens (Human)
Gene Length661
Protein NamesMelanocyte protein PMEL (ME20-M) (ME20M) (Melanocyte protein Pmel 17) (Melanocytes lineage-specific antigen GP100) (Melanoma-associated ME20 antigen) (P1) (P100) (Premelanosome protein) (Silver locus protein homolog) [Cleaved into: M-alpha (95 kDa melanocyte-specific secreted glycoprotein) (P26) (Secreted melanoma-associated ME20 antigen) (ME20-S) (ME20S); M-beta]
Target NameNA
Target TypeNA
Gene AgeNA
Evolutionary StageNA
AlphaFoldDBP40967
Gene CardPMEL
Uniprot IDP40967
PfamPF20433; PF00801
In ASDno
Allosteric PredictionNA
Ortholog in AnimalsNA
OhnologsNA
ParalogsNA
TissueNA
Tissue SpecificityNormally expressed at low levels in quiescent adult melanocytes but overexpressed by proliferating neonatal melanocytes and during tumor growth. Overexpressed in melanomas. Some expression was found in dysplastic nevi. {ECO:0000269|PubMed:8022805}.
Pharmacological Animal ModelsNULL(Chimpanzee);NULL(Mouse);NULL(Rat);0.2(Rabbit)
Gene Ontology
(biological process)
Gene Ontology
(cellular component)
Gene Ontology
(molecular function)
PDB 1TVB  (X-ray  1.80A  )  1TVH  (X-ray  1.80A  )  3CC5  (X-ray  1.91A  )  4IS6  (X-ray  2.50A  )  5EU3  (X-ray  1.97A  )  5EU4  (X-ray  2.12A  )  5EU5  (X-ray  1.54A  )  5EU6  (X-ray  2.02A  )  6VM7  (X-ray  2.41A  )  6VM8  (X-ray  2.41A  )  6VM9  (X-ray  2.90A  )  6VMA  (X-ray  2.75A  )  6VMC  (X-ray  2.85A  )  7PHR  (EM  3.08A  ) 
DBSNP rs2071024  rs17118154 
Subcellular location [CC]Endoplasmic reticulum membrane {ECO:0000269|PubMed:15096515, ECO:0000269|PubMed:15695812, ECO:0000269|PubMed:19047044};
Single-pass type I membrane protein {ECO:0000255}. Golgi apparatus, cis-Golgi network membrane {ECO:0000269|PubMed:15096515};
Single-pass type I membrane protein {ECO:0000255}. Endosome, multivesicular body {ECO:0000269|PubMed:11694580, ECO:0000269|PubMed:17991747, ECO:0000269|PubMed:19047044, ECO:0000269|PubMed:21962903, ECO:0000269|PubMed:26387950}. Melanosome {ECO:0000269|PubMed:11694580, ECO:0000269|PubMed:12643545, ECO:0000269|PubMed:15096515, ECO:0000269|PubMed:15695812, ECO:0000269|PubMed:17081065, ECO:0000269|PubMed:17991747, ECO:0000269|PubMed:23754390}. Extracellular vesicle {ECO:0000269|PubMed:26387950}. Secreted {ECO:0000269|PubMed:8179825}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:17081065). 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 (PubMed:12643545, PubMed:11694580). Sorted to stage I melanosomes following its processing in the ER and cis-Golgi (PubMed:15096515). Transiently expressed at the cell surface before targeting to early melanosomes (PubMed:30988362, PubMed:16760433). Colocalizes with BACE2 in stage I and II melanosomes (PubMed:23754390). Colocalizes with CD63 and APOE at exosomes and in intraluminal vesicles within multivesicular endosomes (PubMed:26387950, PubMed:21962903). {ECO:0000269|PubMed:11694580, ECO:0000269|PubMed:12643545, ECO:0000269|PubMed:15096515, ECO:0000269|PubMed:16760433, ECO:0000269|PubMed:17081065, ECO:0000269|PubMed:21962903, ECO:0000269|PubMed:23754390, ECO:0000269|PubMed:26387950, ECO:0000269|PubMed:30988362}.
Mouse PG classificationNA
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