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Pmel Gene Detail
Summary
  • Symbol
    Pmel
  • Name
    premelanosome protein
  • Synonyms
    D10H12S53E, D12S53Eh, gp100, gp87, Pmel17, Si
  • Feature Type
    protein coding gene
  • IDs
    MGI:98301
    NCBI Gene: 20431
  • Gene Overview
    MyGene.info: PMEL
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr10:128705144-128720238 bp, + strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      15095 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 77.13 cM
  • Mapping Data
    10 experiments
Homology
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  • Human Ortholog
    PMEL, premelanosome protein
  • Vertebrate Orthologs
    11
  • Human Ortholog
    PMEL, premelanosome protein
    Orthology source: HomoloGene, HGNC
  • Synonyms
    D12S53E, gp100, ME20, ME20M, ME20-M, P1, P100, PMEL17, SI, SIL, SILV
  • Links
    NCBI Gene ID: 6490
    neXtProt AC: NX_P40967
    UniProt: P40967

  • Chr Location
    12q13.2; chr12:55954105-55966712 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 5048
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;2 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: PMEL
  • Gene Tree
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    10 phenotypes from 2 alleles in 3 genetic backgrounds
    2 images
    21 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
This mutation affects the viability of melanoblasts, resulting in random occurrence of white, partially white or gray hairs, and fully pigmented hairs that together display as varying intensities of silvering.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic 20431 NCBI Gene Model | MGI Sequence Detail 15095 C57BL/6J ±  kb
    transcript NM_021882 RefSeq | MGI Sequence Detail 2130 C57BL/6  
    polypeptide Q60696 UniProt | EBI | MGI Sequence Detail 626 Not Applicable  
    For the selected sequence
    Polymorphisms
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    • SNPs within 2kb
      147 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
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    • All nucleic 13
      Genomic 1
      cDNA 10
      Other 2

      Microarray probesets 4
    Other
    Accession IDs
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    MGD-MRK-14408, MGD-MRK-2463, MGD-MRK-3358, MGI:88707
    References
    more
    • Summaries
      All 79
      Developmental Gene Expression 17
      Gene Ontology 6
      Phenotypes 21
    • Earliest
      J:13051 Dunn LC, et al., The silver mouse, a recessive color variation. J Hered. 1930;21:495-498
    • Latest
      J:242244 Ma X, et al., DAPL1, a susceptibility locus for age-related macular degeneration, acts as a novel suppressor of cell proliferation in the retinal pigment epithelium. Hum Mol Genet. 2017 May 01;26(9):1612-1621

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    07/10/2018
    MGI 6.12
    The Jackson Laboratory