SLC24A5

Protein name: NCKX5 Aliases: JSX, SHEP4 Substrates: Na+, Ca2+, K+ Transport type: Exchanger / 4 Na+, Ca2+, K+ Tissue and cellular expression: retina, brain, thymus, skin Subcellular expression: intracellular Disease: N/D Locus: 15q21.1 Sequence ID: NP_995322.1, NM_205850.2 Gene ID: 283652 Splice variants: N/D

NCKX5_HUMAN (UniProt)

Gene names: SLC24A5, JSX, NCKX5
Protein names and data: NCKX5_HUMAN, Full=Sodium/potassium/calcium exchanger 5, Full=Na(+)/K(+)/Ca(2+)-exchange protein 5;Full=Solute carrier family 24 member 5;Flags: Precursor; Length: 500 a.a., Mass: 54888 Da,
fasta formatted sequence
Function: Cation exchanger involved in pigmentation, possibly by participating in ion transport in melanosomes. Probably transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+)
Cellular location: Membrane; Multi-pass membrane protein (By similarity). Melanosome. Note=Enriched in late-stage melanosomes

Database cross-references

UniProt: Q71RS6
NextBio: 94137
OMIM: 113750 609802
Ensembl: ENST00000341459
GeneCard: GC15P048120
TCDB: 2.A.19.4.6
PharmGenUCSF: SLC24A5
Guide to Pharmacology: SLC24A5 (1049)
SLC24 family of sodium/potassium/calcium exchangers (1049)
HGNC: HGNC:20611

Genetic variants

The Ala-111 allele predominates (93 to 100%) in African and East Asian populations. In contrast, the Thr-111 allele is nearly fixed (98.7 to 100%) in European populations, is associated with a substantial reduction in regional heterozygosity, and correlates with lighter skin pigmentation in admixed populations. See also Ensembl:ENST00000341459