PMEL report

I. Expression across cell types

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of PMEL at tissue level.

III. Associated gene sets

GO_0042438Biological processmelanin biosynthetic process
GO_0032438Biological processmelanosome organization
GO_0048023Biological processpositive regulation of melanin biosynthetic process
GO_0042470Cellular componentmelanosome
GO_0097487Cellular componentmultivesicular body, internal vesicle
GO_0033162Cellular componentmelanosome membrane
GO_0070062Cellular componentextracellular exosome
GO_0005783Cellular componentendoplasmic reticulum
GO_0005794Cellular componentGolgi apparatus
GO_0032585Cellular componentmultivesicular body membrane
GO_0005886Cellular componentplasma membrane
GO_0033106Cellular componentcis-Golgi network membrane
GO_0005789Cellular componentendoplasmic reticulum membrane
GO_0005515Molecular functionprotein binding
GO_0042802Molecular functionidentical protein binding

IV. Literature review

[source]
Gene namePMEL
Protein namePremelanosome protein
Melanocyte 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]
Alternative protein PMEL
SynonymsPMEL17
SILV
D12S53E
DescriptionFUNCTION: Forms physiological amyloids that play a central role in melanosome morphogenesis and pigmentation. The maturation of unpigmented premelanosomes from stage I to II is marked by assembly of processed amyloidogenic fragments into parallel fibrillar sheets, which elongate the vesicle into a striated ellipsoidal shape. In pigmented stage III and IV melanosomes, the amyloid matrix serves as a platform where eumelanin precursors accumulate at high local concentrations for pigment formation. May prevent pigmentation-associated toxicity by sequestering toxic reaction intermediates of eumelanin biosynthesis pathway. .; FUNCTION: Represents a potent melanoma-specific antigen. Among melanoma non-mutated self-peptides, G9-154 (KTWGQYWQV), G9-209 (ITDQVPFSV) and G9-280 (YLEPGPVTA), appear to act as immunodominant common epitopes that stimulate anti-tumor immune response mediated by HLA-A-restricted cytotoxic T cells. .

AccessionsENST00000549404.5
P40967
ENST00000550464.5 [P40967-3]
ENST00000546543.5
ENST00000552882.5 [P40967-1]
ENST00000547137.5
ENST00000549418.5
ENST00000549233.2
F8VZV2
F8VYZ1
ENST00000449260.6 [P40967-2]
F8VUB1
F8VZC6
H0YIJ2
ENST00000548803.5
L8ECD6
ENST00000550447.5
ENST00000548747.6 [P40967-1]
F8W1D1
ENST00000548493.5 [P40967-1]
F8VXH8