Name | premelanosome protein |
Description | This gene encodes a melanocyte-specific type I transmembrane glycoprotein. The encoded protein is enriched in melanosomes, which are the melanin-producing organelles in melanocytes, and plays an essential role in the structural organization of premelanosomes. This protein is involved in generating internal matrix fibers that define the transition from Stage I to Stage II melanosomes. This protein undergoes a complex pattern of prosttranslational processing and modification that is essential to the proper functioning of the protein. A secreted form of this protein that is released by proteolytic ectodomain shedding may be used as a melanoma-specific serum marker. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011] |
Summary |
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Moreover, transcriptional regulation by factors such as MITF ensures high‐level expression in pigment cells, and its proper sorting may involve adaptor complex (AP) components that recognize distinct domains of PMEL."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "8"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nA hallmark of PMEL function is its capacity to form functional amyloid fibrils that serve as an internal scaffold for safe melanin deposition. This fibrillogenic conversion is initiated by specific proteolytic cleavages including an early “S2‐like” juxtamembrane cut and further processing events—in some instances requiring enzymes such as furin‐like proprotein convertases and even BACE2—that release luminal fragments competent for self‐assembly. The repeat (RPT) domain, which forms amyloid only under the mildly acidic conditions typical of melanosomes, together with contributions from a polycystic kidney disease–like (PKD) domain and an N‐terminal region, constitute the structural core driving fibril nucleation and growth. Notably, alternative splicing and glycosylation events further modulate the amyloidogenic potential of PMEL, and ectodomain shedding can generate secreted species."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "9", "end_ref": "13"}, {"type": "fg_f", "ref": "8"}, {"type": "fg_fs", "start_ref": "14", "end_ref": "16"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its central role in fibril formation and melanosome maturation, PMEL’s processing and trafficking have broader functional implications. Its fragments not only create a template on which melanins polymerize but also contribute indirectly to immune recognition of melanoma cells, as peptides derived from PMEL can be presented to T lymphocytes. Disruptions in PMEL processing—for example, due to mutations that truncate the cytoplasmic tail or alter its transmembrane oligomerization—lead to aberrant fibril formation and pigment dilution, as exemplified by the silver and dominant white phenotypes in animals. In addition, interactions with other melanocyte-specific proteins (such as MART-1) and the influence of lipid environments further fine-tune its fibrillogenic behavior, making PMEL a key determinant of both melanosome structure and pigmentation homeostasis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "17", "end_ref": "24"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "J F Berson, D C Harper, D Tenza, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Proprotein convertase cleavage liberates a fibrillogenic fragment of a resident glycoprotein to initiate melanosome biogenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.200302072"}], "href": "https://doi.org/10.1083/jcb.200302072"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12732614"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12732614"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Jinyan Du, Arlo J Miller, Hans R Widlund, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MLANA/MART1 and SILV/PMEL17/GP100 are transcriptionally regulated by MITF in melanocytes and melanoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Pathol (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/S0002-9440(10)63657-7"}], "href": "https://doi.org/10.1016/S0002-9440(10"}, {"type": "t", "text": "63657-7) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12819038"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12819038"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Julio C Valencia, Hidenori Watabe, An Chi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Sorting of Pmel17 to melanosomes through the plasma membrane by AP1 and AP2: evidence for the polarized nature of melanocytes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Sci (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1242/jcs.02804"}], "href": "https://doi.org/10.1242/jcs.02804"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16492709"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16492709"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Alexander C Theos, Steven T Truschel, Daniele Tenza, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A lumenal domain-dependent pathway for sorting to intralumenal vesicles of multivesicular endosomes involved in organelle morphogenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Dev Cell (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.devcel.2006.01.012"}], "href": "https://doi.org/10.1016/j.devcel.2006.01.012"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16516837"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16516837"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Toshihiko Hoashi, Jacqueline Muller, Wilfred D Vieira, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The repeat domain of the melanosomal matrix protein PMEL17/GP100 is required for the formation of organellar fibers."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M601643200"}], "href": "https://doi.org/10.1074/jbc.M601643200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16682408"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16682408"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Alexander C Theos, Joanne F Berson, Sarah C Theos, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Dual loss of ER export and endocytic signals with altered melanosome morphology in the silver mutation of Pmel17."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Biol Cell (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1091/mbc.e06-01-0081"}], "href": "https://doi.org/10.1091/mbc.e06-01-0081"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16760433"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16760433"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Ralf M Leonhardt, Nathalie Vigneron, Christoph Rahner, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Endoplasmic reticulum export, subcellular distribution, and fibril formation by Pmel17 require an intact N-terminal domain junction."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M109.097725"}], "href": "https://doi.org/10.1074/jbc.M109.097725"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20231267"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20231267"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Julio C Valencia, Francois Rouzaud, Sylvain Julien, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Sialylated core 1 O-glycans influence the sorting of Pmel17/gp100 and determine its capacity to form fibrils."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M608449200"}], "href": "https://doi.org/10.1074/jbc.M608449200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17303571"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17303571"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Markus P Kummer, Hiroko Maruyama, Claudia Huelsmann, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Formation of Pmel17 amyloid is regulated by juxtamembrane metalloproteinase cleavage, and the resulting C-terminal fragment is a substrate for gamma-secretase."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M808904200"}], "href": "https://doi.org/10.1074/jbc.M808904200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19047044"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19047044"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Ryan P McGlinchey, Frank Shewmaker, Peter McPhie, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "N-terminal domains elicit formation of functional Pmel17 amyloid fibrils."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M109.047449"}], "href": "https://doi.org/10.1074/jbc.M109.047449"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19840945"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19840945"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Toshihiko Hoashi, Kunihiko Tamaki, Vincent J Hearing "}, {"type": "b", "children": [{"type": "t", "text": "The secreted form of a melanocyte membrane-bound glycoprotein (Pmel17/gp100) is released by ectodomain shedding."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "FASEB J (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1096/fj.09-140921"}], "href": "https://doi.org/10.1096/fj.09-140921"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19884326"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19884326"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Candace M Pfefferkorn, Ryan P McGlinchey, Jennifer C Lee "}, {"type": "b", "children": [{"type": "t", "text": "Effects of pH on aggregation kinetics of the repeat domain of a functional amyloid, Pmel17."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.1006424107"}], "href": "https://doi.org/10.1073/pnas.1006424107"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21106765"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21106765"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Ryan P McGlinchey, James M Gruschus, Attila Nagy, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Probing fibril dissolution of the repeat domain of a functional amyloid, Pmel17, on the microscopic and residue level."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochemistry (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1021/bi201578h"}], "href": "https://doi.org/10.1021/bi201578h"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22092386"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22092386"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "Dexter N Dean, Jennifer C Lee "}, {"type": "b", "children": [{"type": "t", "text": "pH-Dependent fibril maturation of a Pmel17 repeat domain isoform revealed by tryptophan fluorescence."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochim Biophys Acta Proteins Proteom (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbapap.2019.01.012"}], "href": "https://doi.org/10.1016/j.bbapap.2019.01.012"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30716507"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30716507"}]}, {"type": "r", "ref": 17, "children": [{"type": "t", "text": "Nathalie Vigneron, Vincent Stroobant, Jacques Chapiro, et al. "}, {"type": "b", "children": [{"type": "t", "text": "An antigenic peptide produced by peptide splicing in the proteasome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Science (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/science.1095522"}], "href": "https://doi.org/10.1126/science.1095522"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15001714"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15001714"}]}, {"type": "r", "ref": 18, "children": [{"type": "t", "text": "Ken-ichi Yasumoto, Hidenori Watabe, Julio C Valencia, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Epitope mapping of the melanosomal matrix protein gp100 (PMEL17): rapid processing in the endoplasmic reticulum and glycosylation in the early Golgi compartment."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M401269200"}], "href": "https://doi.org/10.1074/jbc.M401269200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15096515"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15096515"}]}, {"type": "r", "ref": 19, "children": [{"type": "t", "text": "Toshihiko Hoashi, Hidenori Watabe, Jacqueline Muller, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MART-1 is required for the function of the melanosomal matrix protein PMEL17/GP100 and the maturation of melanosomes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M413692200"}], "href": "https://doi.org/10.1074/jbc.M413692200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15695812"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15695812"}]}, {"type": "r", "ref": 20, "children": [{"type": "t", "text": "Leila Rochin, Ilse Hurbain, Lutgarde Serneels, et al. "}, {"type": "b", "children": [{"type": "t", "text": "BACE2 processes PMEL to form the melanosome amyloid matrix in pigment cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.1220748110"}], "href": "https://doi.org/10.1073/pnas.1220748110"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23754390"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23754390"}]}, {"type": "r", "ref": 21, "children": [{"type": "t", "text": "Paola Falletta, Paola Bagnato, Maria Bono, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Melanosome-autonomous regulation of size and number: the OA1 receptor sustains PMEL expression."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pigment Cell Melanoma Res (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/pcmr.12239"}], "href": "https://doi.org/10.1111/pcmr.12239"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24650003"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24650003"}]}, {"type": "r", "ref": 22, "children": [{"type": "t", "text": "Zhiping Jiang, Jennifer C Lee "}, {"type": "b", "children": [{"type": "t", "text": "Lysophospholipid-containing membranes modulate the fibril formation of the repeat domain of a human functional amyloid, pmel17."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Mol Biol (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jmb.2014.10.009"}], "href": "https://doi.org/10.1016/j.jmb.2014.10.009"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25451784"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25451784"}]}, {"type": "r", "ref": 23, "children": [{"type": "t", "text": "Kathrin Textoris-Taube, Christin Keller, Juliane Liepe, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The T210M Substitution in the HLA-a*02:01 gp100 Epitope Strongly Affects Overall Proteasomal Cleavage Site Usage and Antigen Processing."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M115.695189"}], "href": "https://doi.org/10.1074/jbc.M115.695189"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26507656"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26507656"}]}, {"type": "r", "ref": 24, "children": [{"type": "t", "text": "Youjun Chen, Cecile Chalouni, Christine Tan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The melanosomal protein PMEL17 as a target for antibody drug conjugate therapy in melanoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M112.361485"}], "href": "https://doi.org/10.1074/jbc.M112.361485"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22613716"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22613716"}]}]}]}
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Synonyms | SI, ME20M, SIL, GP100, D12S53E, SILV, PMEL17, ME20-M, ME20 |
Proteins | PMEL_HUMAN |
NCBI Gene ID | 6490 |
API | |
Download Associations | |
Predicted Functions |
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Co-expressed Genes |
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Expression in Tissues and Cell Lines |
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PMEL has 7,951 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 104 datasets.
Click the + buttons to view associations for PMEL from the datasets below.
If available, associations are ranked by standardized value
Dataset | Summary | |
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Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of PMEL gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset. | |
Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles | tissues with high or low expression of PMEL gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. | |
Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray | tissue samples with high or low expression of PMEL gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset. | |
Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq | tissue samples with high or low expression of PMEL gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset. | |
Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of PMEL gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. | |
BioGPS Cell Line Gene Expression Profiles | cell lines with high or low expression of PMEL gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset. | |
BioGPS Human Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of PMEL gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset. | |
CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of PMEL gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset. | |
CCLE Cell Line Gene Expression Profiles | cell lines with high or low expression of PMEL gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset. | |
CCLE Cell Line Proteomics | Cell lines associated with PMEL protein from the CCLE Cell Line Proteomics dataset. | |
CellMarker Gene-Cell Type Associations | cell types associated with PMEL gene from the CellMarker Gene-Cell Type Associations dataset. | |
ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of PMEL gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
ChEA Transcription Factor Targets | transcription factors binding the promoter of PMEL gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of PMEL gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
CMAP Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of PMEL gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing PMEL protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing PMEL protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
COMPARTMENTS Text-mining Protein Localization Evidence Scores | cellular components co-occuring with PMEL protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. | |
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with PMEL protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
COSMIC Cell Line Gene CNV Profiles | cell lines with high or low copy number of PMEL gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
COSMIC Cell Line Gene Mutation Profiles | cell lines with PMEL gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset. | |
CTD Gene-Chemical Interactions | chemicals interacting with PMEL gene/protein from the curated CTD Gene-Chemical Interactions dataset. | |
CTD Gene-Disease Associations | diseases associated with PMEL gene/protein from the curated CTD Gene-Disease Associations dataset. | |
DepMap CRISPR Gene Dependency | cell lines with fitness changed by PMEL gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
DISEASES Experimental Gene-Disease Association Evidence Scores 2025 | diseases associated with PMEL gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. | |
DISEASES Text-mining Gene-Disease Association Evidence Scores | diseases co-occuring with PMEL gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. | |
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with PMEL gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
DisGeNET Gene-Disease Associations | diseases associated with PMEL gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
DisGeNET Gene-Phenotype Associations | phenotypes associated with PMEL gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
ENCODE Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at PMEL gene from the ENCODE Histone Modification Site Profiles dataset. | |
ENCODE Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of PMEL gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
ENCODE Transcription Factor Targets | transcription factors binding the promoter of PMEL gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
ESCAPE Omics Signatures of Genes and Proteins for Stem Cells | PubMedIDs of publications reporting gene signatures containing PMEL from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset. | |
GAD Gene-Disease Associations | diseases associated with PMEL gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. | |
GAD High Level Gene-Disease Associations | diseases associated with PMEL gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset. | |
GDSC Cell Line Gene Expression Profiles | cell lines with high or low expression of PMEL gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset. | |
GeneRIF Biological Term Annotations | biological terms co-occuring with PMEL gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. | |
GeneSigDB Published Gene Signatures | PubMedIDs of publications reporting gene signatures containing PMEL from the GeneSigDB Published Gene Signatures dataset. | |
GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of PMEL gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. | |
GEO Signatures of Differentially Expressed Genes for Kinase Perturbations | kinase perturbations changing expression of PMEL gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset. | |
GEO Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of PMEL gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations | transcription factor perturbations changing expression of PMEL gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset. | |
GEO Signatures of Differentially Expressed Genes for Viral Infections | virus perturbations changing expression of PMEL gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
GO Biological Process Annotations 2015 | biological processes involving PMEL gene from the curated GO Biological Process Annotations 2015 dataset. | |
GO Biological Process Annotations 2023 | biological processes involving PMEL gene from the curated GO Biological Process Annotations 2023 dataset. | |
GO Biological Process Annotations 2025 | biological processes involving PMEL gene from the curated GO Biological Process Annotations2025 dataset. | |
GO Cellular Component Annotations 2015 | cellular components containing PMEL protein from the curated GO Cellular Component Annotations 2015 dataset. | |
GO Cellular Component Annotations 2023 | cellular components containing PMEL protein from the curated GO Cellular Component Annotations 2023 dataset. | |
GO Cellular Component Annotations 2025 | cellular components containing PMEL protein from the curated GO Cellular Component Annotations 2025 dataset. | |
GO Molecular Function Annotations 2015 | molecular functions performed by PMEL gene from the curated GO Molecular Function Annotations 2015 dataset. | |
GO Molecular Function Annotations 2025 | molecular functions performed by PMEL gene from the curated GO Molecular Function Annotations 2025 dataset. | |
GTEx eQTL 2025 | SNPs regulating expression of PMEL gene from the GTEx eQTL 2025 dataset. | |
GTEx Tissue Gene Expression Profiles | tissues with high or low expression of PMEL gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of PMEL gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
GTEx Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of PMEL gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset. | |
GWASdb SNP-Disease Associations | diseases associated with PMEL gene in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. | |
GWASdb SNP-Phenotype Associations | phenotypes associated with PMEL gene in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. | |
HPA Cell Line Gene Expression Profiles | cell lines with high or low expression of PMEL gene relative to other cell lines from the HPA Cell Line Gene Expression Profiles dataset. | |
HPA Tissue Gene Expression Profiles | tissues with high or low expression of PMEL gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset. | |
HPA Tissue Protein Expression Profiles | tissues with high or low expression of PMEL protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset. | |
HPA Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of PMEL gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset. | |
HuBMAP Azimuth Cell Type Annotations | cell types associated with PMEL gene from the HuBMAP Azimuth Cell Type Annotations dataset. | |
HuGE Navigator Gene-Phenotype Associations | phenotypes associated with PMEL gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. | |
IMPC Knockout Mouse Phenotypes | phenotypes of mice caused by PMEL gene knockout from the IMPC Knockout Mouse Phenotypes dataset. | |
InterPro Predicted Protein Domain Annotations | protein domains predicted for PMEL protein from the InterPro Predicted Protein Domain Annotations dataset. | |
JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of PMEL gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset. | |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles | cell lines with high or low copy number of PMEL gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles | cell lines with high or low expression of PMEL gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles dataset. | |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles | cell lines with PMEL gene mutations from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles dataset. | |
LINCS L1000 CMAP Chemical Perturbation Consensus Signatures | small molecule perturbations changing expression of PMEL gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset. | |
LINCS L1000 CMAP CRISPR Knockout Consensus Signatures | gene perturbations changing expression of PMEL gene from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset. | |
LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of PMEL gene from the LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
LOCATE Curated Protein Localization Annotations | cellular components containing PMEL protein in low- or high-throughput protein localization assays from the LOCATE Curated Protein Localization Annotations dataset. | |
LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain PMEL protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by PMEL gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
MiRTarBase microRNA Targets | microRNAs targeting PMEL gene in low- or high-throughput microRNA targeting studies from the MiRTarBase microRNA Targets dataset. | |
MotifMap Predicted Transcription Factor Targets | transcription factors regulating expression of PMEL gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset. | |
MPO Gene-Phenotype Associations | phenotypes of transgenic mice caused by PMEL gene mutations from the MPO Gene-Phenotype Associations dataset. | |
MSigDB Cancer Gene Co-expression Modules | co-expressed genes for PMEL from the MSigDB Cancer Gene Co-expression Modules dataset. | |
MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations | gene perturbations changing expression of PMEL gene from the MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations dataset. | |
NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles | drug perturbations changing expression of PMEL gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
Pathway Commons Protein-Protein Interactions | interacting proteins for PMEL from the Pathway Commons Protein-Protein Interactions dataset. | |
PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of PMEL gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations | gene perturbations changing expression of PMEL gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
PFOCR Pathway Figure Associations 2023 | pathways involving PMEL protein from the PFOCR Pathway Figure Associations 2023 dataset. | |
PFOCR Pathway Figure Associations 2024 | pathways involving PMEL protein from the Wikipathways PFOCR 2024 dataset. | |
Reactome Pathways 2024 | pathways involving PMEL protein from the Reactome Pathways 2024 dataset. | |
Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles | cell types and tissues with high or low DNA methylation of PMEL gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles dataset. | |
Roadmap Epigenomics Cell and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of PMEL gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue Gene Expression Profiles dataset. | |
Roadmap Epigenomics Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at PMEL gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of PMEL gene from the RummaGEO Drug Perturbation Signatures dataset. | |
RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of PMEL gene from the RummaGEO Gene Perturbation Signatures dataset. | |
Sanger Dependency Map Cancer Cell Line Proteomics | cell lines associated with PMEL protein from the Sanger Dependency Map Cancer Cell Line Proteomics dataset. | |
Tabula Sapiens Gene-Cell Associations | cell types with high or low expression of PMEL gene relative to other cell types from the Tabula Sapiens Gene-Cell Associations dataset. | |
Tahoe Therapeutics Tahoe 100M Perturbation Atlas | drug perturbations changing expression of PMEL gene from the Tahoe Therapeutics Tahoe 100M Perturbation Atlas dataset. | |
TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of PMEL gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset. | |
TCGA Signatures of Differentially Expressed Genes for Tumors | tissue samples with high or low expression of PMEL gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset. | |
TISSUES Curated Tissue Protein Expression Evidence Scores | tissues with high expression of PMEL protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of PMEL protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
TISSUES Experimental Tissue Protein Expression Evidence Scores | tissues with high expression of PMEL protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of PMEL protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
TISSUES Text-mining Tissue Protein Expression Evidence Scores | tissues co-occuring with PMEL protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with PMEL protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
WikiPathways Pathways 2024 | pathways involving PMEL protein from the WikiPathways Pathways 2024 dataset. | |