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Aliases for PMEL Gene

Aliases for PMEL Gene

  • Premelanosome Protein 2 3 4
  • D12S53E 3 4 6
  • PMEL17 3 4 6
  • SILV 3 4 6
  • Melanocytes Lineage-Specific Antigen GP100 3 4
  • Melanoma-Associated ME20 Antigen 3 4
  • Silver Locus Protein Homolog 3 4
  • Melanocyte Protein Pmel 17 3 4
  • ME20-M 3 4
  • ME20M 3 4
  • P100 3 4
  • P1 3 4
  • Melanosomal Matrix Protein17 3
  • Silver (Mouse Homolog) Like 2
  • Melanocyte Protein Mel 17 3
  • Silver, Mouse, Homolog Of 3
  • Melanocyte Protein PMEL 3
  • Silver Homolog (Mouse) 2
  • Gp100 3
  • ME20 3
  • SIL 3
  • SI 3

External Ids for PMEL Gene

Previous HGNC Symbols for PMEL Gene

  • SIL
  • SILV

Previous GeneCards Identifiers for PMEL Gene

  • GC12M056350
  • GC12M056352

Summaries for PMEL Gene

Entrez Gene Summary for PMEL Gene

  • 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]

GeneCards Summary for PMEL Gene

PMEL (Premelanosome Protein) is a Protein Coding gene. Diseases associated with PMEL include halo nevi and juvenile xanthogranuloma. Among its related pathways are Metabolism and Metabolism. An important paralog of this gene is GPNMB.

UniProtKB/Swiss-Prot for PMEL Gene

  • 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 Wiki entry for PMEL Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PMEL Gene

Genomics for PMEL Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PMEL Gene

Start:
55,954,105 bp from pter
End:
55,973,317 bp from pter
Size:
19,213 bases
Orientation:
Minus strand

Genomic View for PMEL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PMEL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PMEL Gene

No data available for Regulatory Elements for PMEL Gene

Proteins for PMEL Gene

  • Protein details for PMEL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P40967-PMEL_HUMAN
    Recommended name:
    Melanocyte protein PMEL
    Protein Accession:
    P40967
    Secondary Accessions:
    • B3KS57
    • B7Z6D7
    • Q12763
    • Q14448
    • Q14817
    • Q16565

    Protein attributes for PMEL Gene

    Size:
    661 amino acids
    Molecular mass:
    70255 Da
    Quaternary structure:
    • Heterooligomer; disulfide-linked heterooligomers of M-alpha and M-beta. Interacts with MLANA. Interacts (via luminal domain) with CD63; this is important for normal sorting of the luminal domain after proteolytic processing.
    SequenceCaution:
    • Sequence=AAA35930.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAA35930.1; Type=Frameshift; Positions=642; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PMEL Gene

    Alternative splice isoforms for PMEL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PMEL Gene

Proteomics data for PMEL Gene at MOPED

Post-translational modifications for PMEL Gene

  • A small amount of P1/P100 (major form) undergoes glycosylation to yield P2/P120 (minor form). P2 is cleaved by a furin-like proprotein convertase (PC) in a pH-dependent manner in a post-Golgi, prelysosomal compartment into two disulfide-linked subunits: a large lumenal subunit, M-alpha/ME20-S, and an integral membrane subunit, M-beta. Despite cleavage, only a small fraction of M-alpha is secreted, whereas most M-alpha and M-beta remain associated with each other intracellularly. M-alpha is further processed to M-alpha N and M-alpha C. M-alpha C further undergoes processing to yield M-alpha C1 and M-alpha C3 (M-alpha C2 in the case of PMEL17-is or PMEL17-ls). Formation of intralumenal fibrils in the melanosomes requires the formation of M-alpha that becomes incorporated into the fibrils. Stage II melanosomes harbor only Golgi-modified Pmel17 fragments that are derived from M-alpha and that bear sialylated O-linked oligosaccharides.
  • N-glycosylated. O-glycosylated; contains sialic acid
  • Glycosylation at Asn81, Asn106, Asn111, Asn321, and Asn568
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for PMEL Gene

Domains for PMEL Gene

Protein Domains for PMEL Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PMEL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P40967

UniProtKB/Swiss-Prot:

PMEL_HUMAN :
  • P40967
Domain:
  • The RPT domain is essential for the generation of the fibrillar matrix of melanosomes.
  • The lumenal domain is necessary for correct processing and trafficking to melanosomes.
  • Contains 1 PKD domain.
Family:
  • Belongs to the PMEL/NMB family.
genes like me logo Genes that share domains with PMEL: view

No data available for Gene Families for PMEL Gene

Function for PMEL Gene

Molecular function for PMEL Gene

UniProtKB/Swiss-Prot 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 (GO) - Molecular Function for PMEL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15695812
genes like me logo Genes that share ontologies with PMEL: view
genes like me logo Genes that share phenotypes with PMEL: view

Animal Models for PMEL Gene

MGI Knock Outs for PMEL:

Animal Model Products

miRNA for PMEL Gene

miRTarBase miRNAs that target PMEL

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PMEL

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for PMEL Gene

Localization for PMEL Gene

Subcellular locations from UniProtKB/Swiss-Prot for PMEL Gene

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.

Gene Ontology (GO) - Cellular Components for PMEL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005789 endoplasmic reticulum membrane IDA 15695812
GO:0005794 Golgi apparatus IDA 15695812
GO:0005886 plasma membrane TAS 8179825
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PMEL: view

No data available for Subcellular locations from COMPARTMENTS for PMEL Gene

Pathways for PMEL Gene

genes like me logo Genes that share pathways with PMEL: view

Pathways by source for PMEL Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for PMEL Gene

Gene Ontology (GO) - Biological Process for PMEL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032438 melanosome organization IDA 11694580
GO:0042438 melanin biosynthetic process IEA --
genes like me logo Genes that share ontologies with PMEL: view

Compounds for PMEL Gene

(3) Novoseek inferred chemical compound relationships for PMEL Gene

Compound -log(P) Hits PubMed IDs
dopachrome 71.2 4
hemocyanin 52.5 4
silver 12.6 9
genes like me logo Genes that share compounds with PMEL: view

Transcripts for PMEL Gene

Unigene Clusters for PMEL Gene

Premelanosome protein:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PMEL

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PMEL Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c ^ 13a ·
SP1: - - - -
SP2: - - -
SP3: - - -
SP4: -
SP5: - - - - - - - - - - - - - - - -
SP6: - - - - - -
SP7: -
SP8: - - -
SP9: - - - - -
SP10: - - - - - - -
SP11: - - -
SP12: -
SP13: -
SP14: - - - - -
SP15: - - - -
SP16:
SP17:

ExUns: 13b ^ 14 ^ 15a · 15b · 15c ^ 16
SP1: -
SP2: -
SP3:
SP4: -
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for PMEL Gene

GeneLoc Exon Structure for
PMEL
ECgene alternative splicing isoforms for
PMEL

Expression for PMEL Gene

mRNA expression in normal human tissues for PMEL Gene

mRNA differential expression in normal tissues according to GTEx for PMEL Gene

This gene is overexpressed in Cervix - Ectocervix (22.0), Skin - Not Sun Exposed (Suprapubic) (9.2), and Skin - Sun Exposed (Lower leg) (6.6).

Protein differential expression in normal tissues for PMEL Gene

This gene is overexpressed in Hair follicle (69.0).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for PMEL Gene

SOURCE GeneReport for Unigene cluster for PMEL Gene Hs.95972

mRNA Expression by UniProt/SwissProt for PMEL Gene

P40967-PMEL_HUMAN
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
genes like me logo Genes that share expressions with PMEL: view

In Situ Assay Products

Orthologs for PMEL Gene

This gene was present in the common ancestor of chordates.

Orthologs for PMEL Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PMEL 35
  • 85.68 (n)
  • 80.83 (a)
PMEL17 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PMEL 35
  • 86.04 (n)
  • 79.6 (a)
PMEL17 36
  • 73 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pmel 35
  • 83.81 (n)
  • 79.81 (a)
Pmel 16
Pmel 36
  • 79 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PMEL 35
  • 99.55 (n)
  • 99.09 (a)
PMEL 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pmel 35
  • 83.69 (n)
  • 80.94 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia PMEL 36
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves PMEL 35
  • 54.76 (n)
  • 46.27 (a)
PMEL 36
  • 35 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PMEL 36
  • 35 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pmel 35
  • 53.75 (n)
  • 46.41 (a)
zebrafish
(Danio rerio)
Actinopterygii pmela 35
  • 52.91 (n)
  • 43.53 (a)
pmela 36
  • 28 (a)
OneToMany
pmelb 36
  • 32 (a)
OneToMany
Species with no ortholog for PMEL:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PMEL Gene

ENSEMBL:
Gene Tree for PMEL (if available)
TreeFam:
Gene Tree for PMEL (if available)

Paralogs for PMEL Gene

Paralogs for PMEL Gene

genes like me logo Genes that share paralogs with PMEL: view

Variants for PMEL Gene

Sequence variations from dbSNP and Humsavar for PMEL Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs1052165 -- 55,957,562(-) GACCC(C/T)AGTGG reference, synonymous-codon
rs1052166 -- 55,957,482(-) GGCAC(C/T)TGTGG missense, reference
rs1132095 -- 55,958,606(-) AATGG(G/T)AGCCA reference, synonymous-codon
rs1804189 -- 55,957,218(-) CACTG(C/T)ACCTG reference, missense
rs2071024 - 55,957,344(-) GGCCC(A/C)TAACA missense, reference

Structural Variations from Database of Genomic Variants (DGV) for PMEL Gene

Variant ID Type Subtype PubMed ID
nsv832424 CNV Loss 17160897
nsv819836 CNV Loss 19587683

Relevant External Links for PMEL Gene

HapMap Linkage Disequilibrium report
PMEL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PMEL Gene

Disorders for PMEL Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for PMEL Gene in MalaCards »

(3) Diseases for PMEL Gene including...

(25) Novoseek inferred disease relationships for PMEL Gene

Disease -log(P) Hits PubMed IDs
melanoma 88 147
metastatic melanoma 85.1 20
vitiligo 74.8 14
melanoma b16 71.4 11
tumors 58 48
genes like me logo Genes that share disorders with PMEL: view

No data available for OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Genatlas and External Links for PMEL Gene

Publications for PMEL Gene

  1. Molecular characterization of the melanocyte lineage-specific antigen gp100. (PMID: 7519602) Adema G.J. … Figdor C.G. (J. Biol. Chem. 1994) 3 4 23
  2. A novel splice variant of Pmel17 expressed by human melanocytes and melanoma cells lacking some of the internal repeats. (PMID: 14632201) Nichols S.E. … Marks M.S. (J. Invest. Dermatol. 2003) 3 4 23
  3. Epitope mapping of the melanosomal matrix protein gp100 (PMEL17): rapid processing in the endoplasmic reticulum and glycosylation in the early Golgi compartment. (PMID: 15096515) Yasumoto K.-I. … Hearing V.J. (J. Biol. Chem. 2004) 3 4 23
  4. MART-1 is required for the function of the melanosomal matrix protein PMEL17/GP100 and the maturation of melanosomes. (PMID: 15695812) Hoashi T. … Hearing V.J. (J. Biol. Chem. 2005) 3 4 23
  5. Premelanosome amyloid-like fibrils are composed of only Golgi- processed forms of Pmel17 that have been proteolytically processed in endosomes. (PMID: 17991747) Harper D.C. … Marks M.S. (J. Biol. Chem. 2008) 3 4 23

Products for PMEL Gene

Sources for PMEL Gene

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