SLCtables

SLC24A1

Protein name: NCKX1 Aliases: RODX, HsT17412, KIAA0702 Substrates: Na+, Ca2+, K+ Transport type: Exchanger / 4 Na+, Ca2+, K+ Tissue and cellular expression: rod photoreceptors, platelets Subcellular expression: plasma membrane Disease: congenital stationary night blindness Locus: 15q22 Sequence ID: NP_004718.1, NM_004727.2 Gene ID: 9187 Splice variants: N/D

NCKX1_HUMAN (UniProt)

Gene names: SLC24A1, KIAA0702, NCKX1
Protein names and data: NCKX1_HUMAN, Full=Sodium/potassium/calcium exchanger 1, Full=Na(+)/K(+)/Ca(2+)-exchange protein 1;Full=Retinal rod Na-Ca+K exchanger; Length: 1099 a.a., Mass: 121374 Da,
fasta formatted sequence
Function: Critical component of the visual transduction cascade, controlling the calcium concentration of outer segments during light and darkness. Light causes a rapid lowering of cytosolic free calcium in the outer segment of both retinal rod and cone photoreceptors and the light-induced lowering of calcium is caused by extrusion via this protein which plays a key role in the process of light adaptation. Transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+)
Disease: (OMIM: 603617 613830) Defects in SLC24A1 are the cause of congenital stationary night blindness type 1D (CSNB1D) [MIM:613830]. An autosomal recessive form of congenital stationary night blindness a non- progressive retinal disorder characterized by impaired night vision. CSNB1D is characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves). Patients have visual acuity within the normal range and no symptoms of myopia and/or nystagmus
Cellular location: Membrane; Multi-pass membrane protein
Tissue specificity: Expressed in the retina, particularly in the inner segment, outer and inner nuclear layers, and ganglion cell layer

Database cross-references

UniProt: O60721
NextBio: 34449
OMIM: 603617 613830
Ensembl: ENST00000546330
GeneCard: GC15P065611
PharmGenUCSF: SLC24A1
Guide to Pharmacology: SLC24A1 (1045)
SLC24 family of sodium/potassium/calcium exchangers (1045)
HGNC: HGNC:10975

Genetic variants

See also Ensembl:ENST00000546330

37 - 37 T -> S (in dbSNP:rs3743171). VAR_050221 3743171
311 - 311 V -> L (in dbSNP:rs34363823). VAR_050222 34363823
313 - 313 L -> V (in dbSNP:rs35571449). VAR_050223 35571449