SLC24A5 encodes a trans-Golgi network protein with potassium-dependent sodium-calcium exchange activity that regulates human epidermal melanogenesis

J Biol Chem. 2008 Feb 29;283(9):5486-95. doi: 10.1074/jbc.M707521200. Epub 2007 Dec 28.

Abstract

A non-synonymous single nucleotide polymorphism in the human SLC24A5 gene is associated with natural human skin color variation. Multiple sequence alignments predict that this gene encodes a member of the potassium-dependent sodium-calcium exchanger family denoted NCKX5. In cultured human epidermal melanocytes we show using affinity-purified antisera that native human NCKX5 runs as a triplet of approximately 43 kDa on SDS-PAGE and is partially localized to the trans-Golgi network. Removal of the NCKX5 protein through small interfering RNA-mediated knockdown disrupts melanogenesis in human and murine melanocytes, causing a significant reduction in melanin pigment production. Using a heterologous expression system, we confirm for the first time that NCKX5 possesses the predicted exchanger activity. Site-directed mutagenesis of NCKX5 and NCKX2 in this system reveals that the non-synonymous single nucleotide polymorphism in SLC24A5 alters a residue that is important for NCKX5 and NCKX2 activity. We suggest that NCKX5 directly regulates human epidermal melanogenesis and natural skin color through its intracellular potassium-dependent exchanger activity.

MeSH terms

  • Animals
  • Antiporters / genetics
  • Antiporters / metabolism*
  • Calcium / metabolism
  • Cell Line, Tumor
  • Golgi Apparatus / genetics
  • Golgi Apparatus / metabolism*
  • Humans
  • Ion Transport / physiology
  • Male
  • Melanins / biosynthesis*
  • Melanins / genetics
  • Melanocytes / cytology
  • Melanocytes / metabolism*
  • Mice
  • Pigmentation / physiology*
  • Polymorphism, Single Nucleotide*
  • Potassium / metabolism
  • Sodium / metabolism
  • Sodium-Calcium Exchanger / genetics
  • Sodium-Calcium Exchanger / metabolism

Substances

  • Antiporters
  • Melanins
  • SLC24A5 protein, human
  • Sodium-Calcium Exchanger
  • potassium-dependent sodium-calcium exchanger
  • Sodium
  • Potassium
  • Calcium