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Pmel premelanosome protein [ Mus musculus (house mouse) ]

Gene ID: 20431, updated on 11-Apr-2024

Summary

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Official Symbol
Pmelprovided by MGI
Official Full Name
premelanosome proteinprovided by MGI
Primary source
MGI:MGI:98301
See related
Ensembl:ENSMUSG00000025359 AllianceGenome:MGI:98301
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Si; Silv; gp87; gp100; Pmel17; D12S53Eh; D10H12S53E
Summary
Predicted to enable identical protein binding activity. Involved in positive regulation of melanin biosynthetic process. Acts upstream of or within melanin biosynthetic process. Located in melanosome. Is expressed in several structures, including alimentary system; genitourinary system; mesenchyme derived from neural crest; nervous system; and sensory organ. Orthologous to human PMEL (premelanosome protein). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in genital fat pad adult (RPKM 17.7), testis adult (RPKM 10.9) and 10 other tissues See more
Orthologs
human all
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Genomic context

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Location:
10 D3; 10 77.13 cM
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (128531757..128555993)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (128695888..128720238)

Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E2343 Neighboring gene sulfite oxidase Neighboring gene ribosomal protein L12 pseudogene Neighboring gene RAB5B, member RAS oncogene family Neighboring gene STARR-positive B cell enhancer ABC_E50 Neighboring gene STARR-positive B cell enhancer ABC_E2974 Neighboring gene cyclin dependent kinase 2 Neighboring gene diacylglycerol kinase, alpha Neighboring gene STARR-positive B cell enhancer ABC_E5201 Neighboring gene STARR-seq mESC enhancer starr_28299 Neighboring gene STARR-positive B cell enhancer ABC_E10661 Neighboring gene STARR-seq mESC enhancer starr_28300 Neighboring gene predicted gene, 31504 Neighboring gene PYM homolog 1, exon junction complex associated factor Neighboring gene ribosomal protein SA, pseudogene 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. A Prime-Pull-Amplify Vaccination Strategy To Maximize Induction of Circulating and Genital-Resident Intraepithelial CD8(+) Memory T Cells. Çuburu N, et al. J Immunol, 2019 Feb 15. PMID 30635393, Free PMC Article
  2. Cytomegalovirus-Based Vaccine Expressing a Modified Tumor Antigen Induces Potent Tumor-Specific CD8(+) T-cell Response and Protects Mice from Melanoma. Qiu Z, et al. Cancer Immunol Res, 2015 May. PMID 25633711
  3. The mouse silver locus encodes a single transcript truncated by the silver mutation. Martínez-Esparza M, et al. Mamm Genome, 1999 Dec. PMID 10594241
  4. Characterization and subcellular localization of human Pmel 17/silver, a 110-kDa (pre)melanosomal membrane protein associated with 5,6,-dihydroxyindole-2-carboxylic acid (DHICA) converting activity. Lee ZH, et al. J Invest Dermatol, 1996 Apr. PMID 8617992
  5. Identification of a melanosomal matrix protein encoded by the murine si (silver) locus using "organelle scanning". Zhou BK, et al. Proc Natl Acad Sci U S A, 1994 Jul 19. PMID 8041749, Free PMC Article

See all (71) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Prophylactic and therapeutic vaccinations of mice with MCMV-gp100KGP effectively protected mice from highly aggressive lung B16-F10 melanoma, and the protection was mediated by gp100-specific CD8(+) T cells
    Title: Cytomegalovirus-Based Vaccine Expressing a Modified Tumor Antigen Induces Potent Tumor-Specific CD8(+) T-cell Response and Protects Mice from Melanoma.
  2. Melanosome-autonomous regulation of size and number: the OA1 receptor sustains PMEL expression.
    Title: Melanosome-autonomous regulation of size and number: the OA1 receptor sustains PMEL expression.
  3. the BACE1 homologue BACE2 processes PMEL to generate functional amyloids
    Title: BACE2 processes PMEL to form the melanosome amyloid matrix in pigment cells.
  4. A long-peptide vaccine formulation of 20-mer synthetic peptide elicits gp100-specific CD8 T cells from the endogenous repertoire.
    Title: Effective cooperation of monoclonal antibody and peptide vaccine for the treatment of mouse melanoma.
  5. Despite a mild effect on visible pigmentation, inactivation of Pmel led to a substantial reduction in eumelanin content in hair, which demonstrates that PMEL has a critical role for maintaining efficient epidermal pigmentation.
    Title: Inactivation of Pmel alters melanosome shape but has only a subtle effect on visible pigmentation.
  6. Pmel17 gene expression is Microphthalmia-associated transcription factor-dependent in the mouse embryo.
    Title: Pmel17 expression is Mitf-dependent and reveals cranial melanoblast migration during murine development.
  7. These data reveal a dual sorting defect in a natural mutant of Pmel17 and support a requirement of endocytic trafficking in Pmel17 fibril formation.
    Title: Dual loss of ER export and endocytic signals with altered melanosome morphology in the silver mutation of Pmel17.
  8. The silver (Si) protein catalyzes the polymerization of 5,6-dihydroxyindole-2-carboxylic acid to melanin.
    Title: Polymerization of 5,6-dihydroxyindole-2-carboxylic acid to melanin by the pmel 17/silver locus protein.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within melanin biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in melanosome organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in melanosome organization ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of melanin biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
  
located_in cis-Golgi network membrane ISO
Inferred from Sequence Orthology
more info
  
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
  
located_in endoplasmic reticulum membrane ISO
Inferred from Sequence Orthology
more info
  
located_in endosome IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular exosome ISO
Inferred from Sequence Orthology
more info
  
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
is_active_in melanosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in melanosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in melanosome ISO
Inferred from Sequence Orthology
more info
  
located_in melanosome membrane ISO
Inferred from Sequence Orthology
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in multivesicular body membrane ISO
Inferred from Sequence Orthology
more info
  
located_in multivesicular body, internal vesicle ISO
Inferred from Sequence Orthology
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
melanocyte protein PMEL
Names
melanocyte protein pmel 17
silver locus protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_021882.5 → NP_068682.2  melanocyte protein PMEL precursor

    See identical proteins and their annotated locations for NP_068682.2

    Status: VALIDATED

    Source sequence(s)
    AC117232, AC131081
    Consensus CDS
    CCDS36091.1
    UniProtKB/Swiss-Prot
    Q60696, Q9CZB2
    Related
    ENSMUSP00000051869.8, ENSMUST00000054125.9
    Conserved Domains (1) summary
    cd00146
    Location:239 → 294
    PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000076.7 Reference GRCm39 C57BL/6J

    Range
    128531757..128555993
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030244967.1 → XP_030100827.1  melanocyte protein PMEL isoform X1

    UniProtKB/Swiss-Prot
    Q60696, Q9CZB2
    Conserved Domains (1) summary
    cd00146
    Location:239 → 294
    PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...

  2. XM_006513405.5 → XP_006513468.1  melanocyte protein PMEL isoform X1

    See identical proteins and their annotated locations for XP_006513468.1

    UniProtKB/Swiss-Prot
    Q60696, Q9CZB2
    Conserved Domains (1) summary
    cd00146
    Location:239 → 294
    PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...

  3. XM_036155712.1 → XP_036011605.1  melanocyte protein PMEL isoform X2

    Conserved Domains (1) summary
    pfam00801
    Location:283 → 349
    PKD; PKD domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q60696.2 GenPept UniProtKB/Swiss-Prot:Q60696

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