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    PMEL premelanosome protein [ Canis lupus familiaris (dog) ]

    Gene ID: 481102, updated on 17-Aug-2024

    Summary

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    Official Symbol
    PMELprovided by VGNC
    Official Full Name
    premelanosome proteinprovided by VGNC
    Primary source
    VGNC:VGNC:44730
    See related
    Ensembl:ENSCAFG00845005780
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Canis lupus familiaris (sub-species: familiaris)
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
    Also known as
    SILV; Pmel17
    Orthologs
    human mouse all
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    Genomic context

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    Location:
    chromosome: 10
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    106 current ROS_Cfam_1.0 (GCF_014441545.1) 10 NC_051814.1 (299404..334246, complement)
    106 current Dog10K_Boxer_Tasha (GCF_000002285.5) 10 NC_006592.4 (354530..362031, complement)
    106 current UU_Cfam_GSD_1.0 (GCF_011100685.1) 10 NC_049231.1 (644259..651766, complement)
    106 current UMICH_Zoey_3.1 (GCF_005444595.1) 10 NC_049270.1 (277211..284717, complement)
    106 current UNSW_CanFamBas_1.0 (GCF_013276365.1) 10 NC_049751.1 (519995..527495, complement)

    Chromosome 10 - NC_051814.1Genomic Context describing neighboring genes Neighboring gene PYM homolog 1, exon junction complex associated factor Neighboring gene diacylglycerol kinase alpha Neighboring gene cyclin dependent kinase 2 Neighboring gene RAB5B, member RAS oncogene family Neighboring gene sulfite oxidase Neighboring gene uncharacterized LOC111097574 Neighboring gene IKAROS family zinc finger 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. The PMEL gene and merle (dapple) in the dachshund: cryptic, hidden, and mosaic variants demonstrate the need for genetic testing prior to breeding. Ballif BC, et al. Hum Genet, 2021 Nov. PMID 34370083
    2. Being Merle: The Molecular Genetic Background of the Canine Merle Mutation. Varga L, et al. Genes (Basel), 2020 Jun 17. PMID 32560567, Free PMC Article
    3. Merle allele variations in the Mudi dog breed and their effects on phenotypes. Pelles Z, et al. Acta Vet Hung, 2019 Jun. PMID 31238727
    4. Elimination of SILV as a candidate for congenital sensorineural deafness in Dalmatian dogs. Stritzel S, et al. Anim Genet, 2007 Dec. PMID 17931401
    5. Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog. Clark LA, et al. Proc Natl Acad Sci U S A, 2006 Jan 31. PMID 16407134, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The PMEL gene and merle (dapple) in the dachshund: cryptic, hidden, and mosaic variants demonstrate the need for genetic testing prior to breeding.
      Title: The PMEL gene and merle (dapple) in the dachshund: cryptic, hidden, and mosaic variants demonstrate the need for genetic testing prior to breeding.
    2. Being Merle: The Molecular Genetic Background of the Canine Merle Mutation.
      Title: Being Merle: The Molecular Genetic Background of the Canine Merle Mutation.
    3. Phenotypically, not only merle dogs are carriers of this insertion, but also the so-called hidden merle individuals (where the merle phenotype is fully covered by the pheomelanin-dominated colouration) are potentially capable of producing unintentionally homozygous 'double merle' progeny with ophthalmologic, viability and auditory impairments.
      Title: Merle allele variations in the Mudi dog breed and their effects on phenotypes.
    4. SILV is responsible for merle patterning and is associated with impaired function of the auditory and ophthalmologic systems.
      Title: Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog.
    5. SILV has been eliminated as a gene associated with congenital sensorineural deafness in Dalmations.
      Title: Elimination of SILV as a candidate for congenital sensorineural deafness in Dalmatian dogs.
    Submit: New GeneRIF Correction

    General gene information

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    Homology

    Gene Ontology Provided by RefSeq

    Process Evidence Code Pubs
    involved_in melanosome organization IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in melanosome IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    melanocyte protein PMEL
    Names
    pre-melanosomal protein 17

    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_001103216.1 → NP_001096686.1  melanocyte protein PMEL precursor

      Status: VALIDATED

      Source sequence(s)
      JAAUVH010000358
      UniProtKB/TrEMBL
      A0A8C0NRE6, A0A8P0N3A4
      Related
      ENSCAFP00845007996.1, ENSCAFT00845010266.1
      Conserved Domains (2) summary
      smart00089
      Location:237 → 309
      PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
      pfam05109
      Location:272 → 455
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

    RefSeqs of Annotated Genomes: Canis lupus familiaris Annotation Release 106 details...Open this link in a new tab

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

    Reference ROS_Cfam_1.0

    Genomic

    1. NC_051814.1 Reference ROS_Cfam_1.0

      Range
      299404..334246 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_038678783.1 → XP_038534711.1  melanocyte protein PMEL isoform X3

      UniProtKB/TrEMBL
      A0A8C0NRE6, A0A8P0N3A4
      Conserved Domains (2) summary
      smart00089
      Location:257 → 329
      PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
      pfam05109
      Location:292 → 475
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

    2. XM_038678780.1 → XP_038534708.1  melanocyte protein PMEL isoform X1

      UniProtKB/TrEMBL
      A0A8C0NRE6, A0A8P0N3A4
      Conserved Domains (2) summary
      smart00089
      Location:332 → 404
      PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
      pfam05109
      Location:367 → 550
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

    3. XM_038678788.1 → XP_038534716.1  melanocyte protein PMEL isoform X4

      UniProtKB/TrEMBL
      A0A8C0NRE6, A0A8P0N3A4
      Conserved Domains (2) summary
      smart00089
      Location:237 → 309
      PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
      pfam05109
      Location:272 → 455
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

    4. XM_038678782.1 → XP_038534710.1  melanocyte protein PMEL isoform X3

      UniProtKB/TrEMBL
      A0A8C0NRE6, A0A8P0N3A4
      Conserved Domains (2) summary
      smart00089
      Location:257 → 329
      PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
      pfam05109
      Location:292 → 475
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

    5. XM_038678787.1 → XP_038534715.1  melanocyte protein PMEL isoform X4

      UniProtKB/TrEMBL
      A0A8C0NRE6, A0A8P0N3A4
      Conserved Domains (2) summary
      smart00089
      Location:237 → 309
      PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
      pfam05109
      Location:272 → 455
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

    6. XM_038678784.1 → XP_038534712.1  melanocyte protein PMEL isoform X3

      UniProtKB/TrEMBL
      A0A8C0NRE6, A0A8P0N3A4
      Conserved Domains (2) summary
      smart00089
      Location:257 → 329
      PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
      pfam05109
      Location:292 → 475
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

    7. XM_038678781.1 → XP_038534709.1  melanocyte protein PMEL isoform X2

      UniProtKB/TrEMBL
      A0A8C0NRE6, A0A8P0N3A4
      Conserved Domains (2) summary
      smart00089
      Location:299 → 371
      PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
      pfam05109
      Location:334 → 517
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

    8. XM_038678785.1 → XP_038534713.1  melanocyte protein PMEL isoform X4

      UniProtKB/TrEMBL
      A0A8C0NRE6, A0A8P0N3A4
      Conserved Domains (2) summary
      smart00089
      Location:237 → 309
      PKD; Repeats in polycystic kidney disease 1 (PKD1) and other proteins
      pfam05109
      Location:272 → 455
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

    Alternate UMICH_Zoey_3.1

    Genomic

    1. NC_049270.1 Alternate UMICH_Zoey_3.1

      Range
      277211..284717 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate UNSW_CanFamBas_1.0

    Genomic

    1. NC_049751.1 Alternate UNSW_CanFamBas_1.0

      Range
      519995..527495 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate UU_Cfam_GSD_1.0

    Genomic

    1. NC_049231.1 Alternate UU_Cfam_GSD_1.0

      Range
      644259..651766 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate Dog10K_Boxer_Tasha Primary Assembly

    Genomic

    1. NC_006592.4 Alternate Dog10K_Boxer_Tasha Primary Assembly

      Range
      354530..362031 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version

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