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PMEL premelanosome protein [ Canis lupus familiaris (dog) ]

Gene ID: 481102, updated on 23-Dec-2021

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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See PMEL in Genome Data Viewer
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)
105 previous assembly CanFam3.1 (GCF_000002285.3) 10 NC_006592.3 (292595..327618, 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

See citations in PubMed for homologs of this gene provided by HomoloGene

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

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
    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

    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

    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

    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

    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

    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

    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

    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

    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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