Pmel premelanosome protein [Mus musculus (house mouse)] - Gene

Summary

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, Nov 2024]
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

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_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
the BACE1 homologue BACE2 processes PMEL to generate functional amyloids
Title: BACE2 processes PMEL to form the melanosome amyloid matrix in pigment cells.
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.
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.
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.
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.
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)

Endonuclease-mediated (2) 1 citation
Spontaneous (1)
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in extracellular exosome	ISO Inferred from Sequence Orthology more info
located_in extracellular exosome	ISS Inferred from Sequence or Structural Similarity 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	IEA Inferred from Electronic Annotation more info
located_in melanosome membrane	ISO Inferred from Sequence Orthology more info
located_in multivesicular body 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
located_in multivesicular body, internal vesicle	ISS Inferred from Sequence or Structural Similarity 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)

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

NC_000076.7 Reference GRCm39 C57BL/6J

Range

128531757..128555993

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (1) summary

pfam00801
Location:283 → 349

PKD; PKD domain