PMEL (gene)

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Premelanosome protein
PDB 1tvb EBI.jpg
Rendering of PMEL from PDB 1TVB
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols PMEL ; D12S53E; ME20; ME20-M; ME20M; P1; P100; PMEL17; SI; SIL; SILV; gp100
External IDs OMIM155550 MGI98301 HomoloGene5048 GeneCards: PMEL Gene
RNA expression pattern
PBB GE SILV 209848 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 6490 20431
Ensembl ENSG00000185664 ENSMUSG00000025359
UniProt P40967 Q9CZB2
RefSeq (mRNA) NM_001200053 NM_021882
RefSeq (protein) NP_001186982 NP_068682
Location (UCSC) Chr 12:
56.35 – 56.37 Mb
Chr 10:
128.71 – 128.72 Mb
PubMed search [1] [2]
"Gp100" redirects here. For the firearm, see Ruger GP100.

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.[1][2] 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).[3][4]

References[edit]

  1. ^ 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. 
  2. ^ "Entrez Gene: SILV silver homolog (mouse)". 
  3. ^ 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 1868174. PMID 12819038. 
  4. ^ 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]