Browse PMEL

Summary
SymbolPMEL
Namepremelanosome protein
Aliases D12S53E; Pmel17; gp100; SILV; silver (mouse homolog) like; silver homolog (mouse); ME20; ME20-M; ME20M; P100 ......
Chromosomal Location12q13-q14
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Basic function annotation.
> Subcellular Location, Domain and Function
> Gene Ontology
> KEGG and Reactome Pathway
> Subcellular Location, Domain and Function
 
Subcellular Location 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.; SUBCELLULAR LOCATION: M-alpha: Secreted.
Domain PF00801 PKD domain
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.

> Gene Ontology
 
Biological Process GO:0006582 melanin metabolic process
GO:0016050 vesicle organization
GO:0018958 phenol-containing compound metabolic process
GO:0019748 secondary metabolic process
GO:0032438 melanosome organization
GO:0033059 cellular pigmentation
GO:0042438 melanin biosynthetic process
GO:0042440 pigment metabolic process
GO:0043473 pigmentation
GO:0044550 secondary metabolite biosynthetic process
GO:0046148 pigment biosynthetic process
GO:0046189 phenol-containing compound biosynthetic process
GO:0048066 developmental pigmentation
GO:0048753 pigment granule organization
GO:1901615 organic hydroxy compound metabolic process
GO:1901617 organic hydroxy compound biosynthetic process
Molecular Function -
Cellular Component GO:0005770 late endosome
GO:0005771 multivesicular body
GO:0010008 endosome membrane
GO:0031902 late endosome membrane
GO:0032585 multivesicular body membrane
GO:0042470 melanosome
GO:0044440 endosomal part
GO:0048770 pigment granule
> KEGG and Reactome Pathway
 
KEGG -
Reactome -
Summary
SymbolPMEL
Namepremelanosome protein
Aliases D12S53E; Pmel17; gp100; SILV; silver (mouse homolog) like; silver homolog (mouse); ME20; ME20-M; ME20M; P100 ......
Chromosomal Location12q13-q14
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Literatures that report relations between PMEL and anti-tumor immunity. The specific mechanism were also collected if the literature reports that a gene specifically promotes or inhibits the infiltration or function of T/NK cells.
> Text Mining
 
  Literatures describing the relation between PMEL and anti-tumor immunity in human cancer.
PMID Cancer type Relation to immunity Evidence sentences
19318471MelanomaPromote immunity (T cell function)Priming immunization with gp100(209-2M) without coadministration of CD4(+) helper T cell-restricted antigens induced the effective expansion of peptide-specific central and effector memory CD8(+) T cells with high proliferation potential in vaccine-draining lymph nodes of stage I to III melanoma patients.
23633494B16 Malignant MelanomaPromote immunity (infiltration); Promote immunity (T cell function); essential for immunotherapySimultaneous transfer of genetically engineered syngeneic T cells expressing a chimeric antigen receptor targeting the VEGF receptor-2 (VEGFR2; KDR) that is overexpressed on tumor vasculature and T-cells specific for the tumor antigens gp100 (PMEL), TRP-1 (TYRP1), or TRP-2 (DCT) synergistically eradicated established B16 melanoma tumors in mice and dramatically increased the tumor-free survival of mice compared with treatment with either cell type alone or T cells coexpressing these two targeting molecules. The synergistic antitumor response was accompanied by a significant increase in the infiltration and expansion and/or persistence of the adoptively transferred tumor antigen-specific T cells in the tumor microenvironment and thus enhanced their antitumor potency.
19074859MelanomaPromote immunity (T cell function)In a murine melanoma model, a complex of CA9 and gp100 generated a gp100-specific antitumor response. A soluble form of CA9 shed from tumor cells had the same chaperone-like functions, providing renal tumors and hypoxic cells with a mechanism for stimulating an immune response against extracellular antigens. Interleukin-2 treatment of patient renal tumors in short-term culture increased CA9 shedding, suggesting a strategy for augmenting the immunogenicity of renal tumors.
25038326melanomaPromote immunityPatients with metastatic uveal melanoma received at least 3 vaccinations with autologous dendritic cells, professional antigen-presenting cells loaded with melanoma antigens gp100 and tyrosinase.
29617862melanomaPromote immunityCombining these technologies, we efficiently generated gp100-specific PD-1(-) CD8+ T cells, and demonstrated that the genetically engineered CD8+ T cells have high avidity against melanoma cells both in vitro and in vivo.
23904461MelanomaPromote immunity (T cell function); essential for immunotherapyAutologous monocyte-derived dendritic cells (DCs) electroporated with synthetic messenger RNA (mRNA) encoding a CD40 ligand, a constitutively active Toll-like receptor 4 and CD70, together with mRNA encoding fusion proteins of a human leukocyte antigen (HLA)-class II targeting signal (DC-LAMP) and a melanoma-associated antigen (MAA); either MAGE-A3, MAGE-C2, tyrosinase or gp100) (TriMixDC-MEL) are superiorly immunogenic.
16061687B16 Malignant MelanomaPromote immunityApproximately 70% of the animals were cured from existing tumors by treatment with alphaDEC conjugates carrying two different melanoma antigens (TRP-2 and gp100). Thus, these data show that targeting of dendritic cells in situ by the means of antibody-antigen conjugates may be a novel way to induce long-lasting antitumor immunity.
24100387MelanomaImmunotherapy targetCollectively, these results demonstrate that the TCR-like Ab, GPA7, could redirect NK cells to target the intracellular antigen gp100 and enhance anti-melanoma activity, providing a promising immunotherapeutic strategy to prevent and treat melanoma.
21631324MelanomaPromote immunityIn a previous phase 2 study, patients with metastatic melanoma receiving high-dose interleukin-2 plus the gp100:209-217(210M) peptide vaccine had a higher rate of response than the rate that is expected among patients who are treated with interleukin-2 alone. In patients with advanced melanoma, the response rate was higher and progression-free survival longer with vaccine and interleukin-2 than with interleukin-2 alone.
17000687MelanomaPromote immunityDNAs encoding cytokines that affect T cells [interleukin (IL)-2, IL-12, IL-15, IL-18, IL-21, and the chemokine CCL21] and antigen-presenting cells [granulocyte macrophage colony-stimulating factor (GM-CSF)] were compared in mouse models as adjuvants to enhance CD8+ T-cell responses and tumor immunity. We found that (a) cytokine DNAs generally increased CD8+ T-cell responses against gp100; (b) ligation to Fc domains further enhanced T-cell responses
Summary
SymbolPMEL
Namepremelanosome protein
Aliases D12S53E; Pmel17; gp100; SILV; silver (mouse homolog) like; silver homolog (mouse); ME20; ME20-M; ME20M; P100 ......
Chromosomal Location12q13-q14
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content High-throughput screening data (e.g. CRISPR-Cas9, shRNA and RNAi) for T cell-mediated killing. Genetic screen techniques can identify mechanisms of tumor cell resistance (e.g., PTPN2) and sensitivity (e.g., APLNR) to killing by cytotoxic T cells, the central effectors of anti-tumor immunity. After comprehensively searching, eight groups of screening data sets were collected in the current database. In this tab, users can check whether their selected genes cause resistance or increase sensitivity to T cell-mediated killing in various data sets.
> High-throughput Screening
  Statistical results of PMEL in screening data sets for detecting immune reponses.
PMID Screening System Cancer Type Cell Line Data Set Statistical Results Relation to immunity
29301958CRISPR-Cas9 melanomaB16F10Pmel-1 T cell logFC: 1.53; FDR: 0.000150 Sensitive to T cell-mediated killing
29301958CRISPR-Cas9 melanomaB16F10OT-1 T cell NA/NS NA/NS
28783722CRISPR-Cas9 melanomaMel6242CT-CRISPR NA/NS NA/NS
28723893CRISPR-Cas9 melanomaB16GVAX+Anti-PD1 NA/NS NA/NS
28723893CRISPR-Cas9 melanomaB16GVAX NA/NS NA/NS
25691366RNAiBreast cancerMCF7Luc-CTL assay NA/NS NA/NS
24476824shRNAmelanomaB16Primary screen NA/NS NA/NS
24476824shRNAmelanomaB16Secondary screen NA/NS NA/NS
Summary
SymbolPMEL
Namepremelanosome protein
Aliases D12S53E; Pmel17; gp100; SILV; silver (mouse homolog) like; silver homolog (mouse); ME20; ME20-M; ME20M; P100 ......
Chromosomal Location12q13-q14
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Transcriptomic and genomic profiling of pre-treated tumor biopsies from responders and non-responders to immunotherapy. These data were used to identify signatures and mechanisms of response to checkpoint blockade (e.g., anti-PDL1 and anti-PD1). One example is that mutations in the gene PBRM1 benefit clinical survival of patients with clear cell renal cell carcinoma. After comprehensively searching, we collected 5 and 6 of transcriptomic and genomic data sets, respectively. In this tab, users can check whether their selected genes have significant difference of expression or mutation between responders and non-responders in various data sets.
> Expression difference between responders and non-responders
> Mutation difference between responders and non-responders
> Expression difference between responders and non-responders
 
Points in the above scatter plot represent the expression difference of PMEL in various data sets.
No PMID Cancer type Group Drug # Res # NRes Log2 (Fold Change) P value Anno
126997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)14120.4170.801
226997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)651.8860.666
326997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)87-0.6990.86
428552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 9160.2790.485
528552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 590.2380.874
628552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 470.3330.862
729033130MelanomaallAnti-PD-1 (nivolumab) 2623-0.2130.83
829033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 15110.0410.989
929033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 1112-0.5910.86
1029301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 48-0.2180.804
1129301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 2001
1229301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 28-0.7530.549
1329443960Urothelial cancerallAnti-PD-L1 (atezolizumab) 682300.2580.0962
> Mutation difference between responders and non-responders
 
Points in the above scatter plot represent the mutation difference of PMEL in various data sets.
No PMID Cancer type Group Drug # Res # NRes % Mut/Res % Mut/NRes % Diff (R vs NR) Pval Anno
125765070Non-small cell lung cancer (NSCLC)allAnti-PD-1 (pembrolizumab) 14177.107.10.452
225765070Non-small cell lung cancer (NSCLC)smokingAnti-PD-1 (pembrolizumab) 103100101
325765070Non-small cell lung cancer (NSCLC)non-smokingAnti-PD-1 (pembrolizumab) 4140001
426359337MelanomaallAnti-CTLA-4 (ipilimumab) 277301.4-1.41
526359337MelanomaBRAFiAnti-CTLA-4 (ipilimumab) 0140001
626359337Melanomanon-BRAFiAnti-CTLA-4 (ipilimumab) 275901.7-1.71
726997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)21174.804.81
826997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)860001
926997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)13117.707.71
1028552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 91606.2-6.21
1128552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 59011.1-11.11
1228552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 470001
1329033130MelanomaallAnti-PD-1 (nivolumab) 38272.602.61
1429033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 22134.504.51
1529033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 16140001
1629301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 11130001
1729301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 610001
1829301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 5120001
Summary
SymbolPMEL
Namepremelanosome protein
Aliases D12S53E; Pmel17; gp100; SILV; silver (mouse homolog) like; silver homolog (mouse); ME20; ME20-M; ME20M; P100 ......
Chromosomal Location12q13-q14
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of PMEL. The immune-related signatures of 28 TIL types from Charoentong's study, which can be viewed in the download page. For each cancer type, the relative abundance of TILs were inferred by using gene set variation analysis (GSVA) based on gene expression profile. In this tab, users can examine which kinds of TILs might be regulated by the current gene.
> Lymphocyte
 
Summary
SymbolPMEL
Namepremelanosome protein
Aliases D12S53E; Pmel17; gp100; SILV; silver (mouse homolog) like; silver homolog (mouse); ME20; ME20-M; ME20M; P100 ......
Chromosomal Location12q13-q14
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of PMEL. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by PMEL.
> Immunoinhibitor
> Immunostimulator
> MHC molecule
> Immunoinhibitor
 
> Immunostimulator
 
> MHC molecule
 
Summary
SymbolPMEL
Namepremelanosome protein
Aliases D12S53E; Pmel17; gp100; SILV; silver (mouse homolog) like; silver homolog (mouse); ME20; ME20-M; ME20M; P100 ......
Chromosomal Location12q13-q14
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of PMEL. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene.
> Chemokine
> Receptor
> Chemokine
 
> Receptor
 
Summary
SymbolPMEL
Namepremelanosome protein
Aliases D12S53E; Pmel17; gp100; SILV; silver (mouse homolog) like; silver homolog (mouse); ME20; ME20-M; ME20M; P100 ......
Chromosomal Location12q13-q14
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Distribution of PMEL expression across immune and molecular subtypes.
> Immune subtype
> Molecular subtype
> Immune subtype
 
> Molecular subtype
 
Summary
SymbolPMEL
Namepremelanosome protein
Aliases D12S53E; Pmel17; gp100; SILV; silver (mouse homolog) like; silver homolog (mouse); ME20; ME20-M; ME20M; P100 ......
Chromosomal Location12q13-q14
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Associations between PMEL and clinical features.
> Overall survival analysis
> Cancer stage
> Tumor grade
> Overall survival
 
> Stage
 
> Grade
 
Summary
SymbolPMEL
Namepremelanosome protein
Aliases D12S53E; Pmel17; gp100; SILV; silver (mouse homolog) like; silver homolog (mouse); ME20; ME20-M; ME20M; P100 ......
Chromosomal Location12q13-q14
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Drugs targeting PMEL collected from DrugBank database.
> Drugs from DrugBank database
 

There is no record.