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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
Location & Maps
more
  • Sequence Map
    Chr10:128706258-128720238 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      13981 bp   ±  kb flank

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

  • Chr Location
    12q13.2; chr12:55954105-55966712 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 5048
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;2 zebrafish
  • 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
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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000025359 Ensembl Gene Model | MGI Sequence Detail 13981 C57BL/6J ±  kb
transcript ENSMUST00000054125 Ensembl | MGI Sequence Detail 2130 Not Applicable  
polypeptide ENSMUSP00000051869 Ensembl | 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
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Molecular
Reagents
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  • All nucleic 12
    Genomic 1
    cDNA 9
    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 71
    Developmental Gene Expression 15
    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:222440 Huang J, et al., Bmp4 from the optic vesicle specifies murine retina formation. Dev Biol. 2015 Jun 1;402(1):119-26

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
06/22/2016
MGI 6.04
The Jackson Laboratory