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    Pmel premelanosome protein [ Mus musculus (house mouse) ]

    Gene ID: 20431, updated on 27-Nov-2024

    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
    NEW
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    Genomic context

    See Pmel in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_021882.5NP_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:239294
      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_030244967.1XP_030100827.1  melanocyte protein PMEL isoform X1

      UniProtKB/Swiss-Prot
      Q60696, Q9CZB2
      Conserved Domains (1) summary
      cd00146
      Location:239294
      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_006513405.5XP_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:239294
      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_036155712.1XP_036011605.1  melanocyte protein PMEL isoform X2

      Conserved Domains (1) summary
      pfam00801
      Location:283349
      PKD; PKD domain