| http://purl.uniprot.org/citations/18166528 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18166528 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18166528 | http://www.w3.org/2000/01/rdf-schema#comment | "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."xsd:string |
| http://purl.uniprot.org/citations/18166528 | http://purl.org/dc/terms/identifier | "doi:10.1074/jbc.m707521200"xsd:string |
| http://purl.uniprot.org/citations/18166528 | http://purl.org/dc/terms/identifier | "doi:10.1074/jbc.m707521200"xsd:string |
| http://purl.uniprot.org/citations/18166528 | http://purl.uniprot.org/core/author | "Smith A.M."xsd:string |
| http://purl.uniprot.org/citations/18166528 | http://purl.uniprot.org/core/author | "Smith A.M."xsd:string |
| http://purl.uniprot.org/citations/18166528 | http://purl.uniprot.org/core/author | "Ginger R.S."xsd:string |
| http://purl.uniprot.org/citations/18166528 | http://purl.uniprot.org/core/author | "Ginger R.S."xsd:string |
| http://purl.uniprot.org/citations/18166528 | http://purl.uniprot.org/core/author | "Wilson S."xsd:string |
| http://purl.uniprot.org/citations/18166528 | http://purl.uniprot.org/core/author | "Wilson S."xsd:string |
| http://purl.uniprot.org/citations/18166528 | http://purl.uniprot.org/core/author | "Winkfein R.J."xsd:string |
| http://purl.uniprot.org/citations/18166528 | http://purl.uniprot.org/core/author | "Winkfein R.J."xsd:string |
| http://purl.uniprot.org/citations/18166528 | http://purl.uniprot.org/core/author | "Green M.R."xsd:string |
| http://purl.uniprot.org/citations/18166528 | http://purl.uniprot.org/core/author | "Green M.R."xsd:string |
| http://purl.uniprot.org/citations/18166528 | http://purl.uniprot.org/core/author | "Kazi S."xsd:string |
| http://purl.uniprot.org/citations/18166528 | http://purl.uniprot.org/core/author | "Kazi S."xsd:string |
| http://purl.uniprot.org/citations/18166528 | http://purl.uniprot.org/core/author | "Askew S.E."xsd:string |
| http://purl.uniprot.org/citations/18166528 | http://purl.uniprot.org/core/author | "Askew S.E."xsd:string |
| http://purl.uniprot.org/citations/18166528 | http://purl.uniprot.org/core/author | "Dadd T."xsd:string |
| http://purl.uniprot.org/citations/18166528 | http://purl.uniprot.org/core/author | "Dadd T."xsd:string |
| http://purl.uniprot.org/citations/18166528 | http://purl.uniprot.org/core/author | "Ferdinando D."xsd:string |
| http://purl.uniprot.org/citations/18166528 | http://purl.uniprot.org/core/author | "Ferdinando D."xsd:string |
| http://purl.uniprot.org/citations/18166528 | http://purl.uniprot.org/core/author | "Ogborne R.M."xsd:string |
| http://purl.uniprot.org/citations/18166528 | http://purl.uniprot.org/core/author | "Ogborne R.M."xsd:string |