PMEL (gene)

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PMEL
PDB 1tvb EBI.jpg
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases PMEL, D12S53E, ME20, ME20-M, ME20M, P1, P100, PMEL17, SI, SIL, SILV, gp100, premelanosome protein
External IDs MGI: 98301 HomoloGene: 5048 GeneCards: PMEL
RNA expression pattern
PBB GE SILV 209848 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001200053
NM_001200054
NM_006928
NM_001320121
NM_001320122

NM_021882

RefSeq (protein)

NP_001186982
NP_001186983
NP_001307050
NP_001307051
NP_008859

n/a

Location (UCSC) Chr 12: 55.95 – 55.97 Mb Chr 10: 128.71 – 128.72 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Melanocyte protein PMEL also known as premelanosome protein (PMEL) or silver locus protein homolog (SILV) is a protein that in humans is encoded by the PMEL gene.[3][4] Its gene product may be referred to as PMEL, silver, ME20, gp100 or Pmel17.

Structure and function[edit]

PMEL is a 100 kDa type I transmembrane glycoprotein that is expressed primarily in pigment cells of the skin and eye. The transmembrane form of PMEL is modified in the secretory pathway by elaboration of N-linked oligosaccharides and addition and modification of O-linked oligosaccharides. It is then targeted to precursors of the pigment organelle, the melanosome, where it is proteolytically processed to several small fragments. Some of these fragments form non-pathological amyloid that assemble into sheets and form the striated pattern that underlies melanosomal ultrastructure. PMEL cleavage is mediated by several proteases including a proprotein convertase of the furin family, a "sheddase" that might include members of the a disintegrin and metalloproteinase (ADAM) family, and additional proteases in melanosomes or their precursors. After the amyloidogenic region is cleaved, the small remaining integral membrane fragment is digested by γ-secretase.

The expression of the PMEL gene is regulated by the microphthalmia-associated transcription factor (MITF).[5][6]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Kim KK, Youn BS, Heng HH, Shi XM, Tsui LC, Lee ZH, Pickard RT, Kwon BS (Oct 1996). "Genomic organization and FISH mapping of human Pmel 17, the putative silver locus". Pigment Cell Res. 9 (1): 42–8. doi:10.1111/j.1600-0749.1996.tb00085.x. PMID 8739560. 
  4. ^ "Entrez Gene: SILV silver homolog (mouse)". 
  5. ^ Du J, Miller AJ, Widlund HR, Horstmann MA, Ramaswamy S, Fisher DE (2003). "MLANA/MART1 and SILV/PMEL17/GP100 are transcriptionally regulated by MITF in melanocytes and melanoma". Am. J. Pathol. 163 (1): 333–43. doi:10.1016/S0002-9440(10)63657-7. PMC 1868174Freely accessible. PMID 12819038. 
  6. ^ Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. 

Further reading[edit]