UniProt Protein Function: | SLC24A1: 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(+). Defects in SLC24A1 are the cause of congenital stationary night blindness type 1D (CSNB1D). 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. Belongs to the sodium/potassium/calcium exchanger family. SLC24A subfamily. 2 isoforms of the human protein are produced by alternative splicing.Protein type: Membrane protein, integral; Transporter, SLC family; Transporter; Membrane protein, multi-passChromosomal Location of Human Ortholog: 15q22Cellular Component: membrane; outer membrane; integral to plasma membrane; plasma membraneMolecular Function: protein binding; calcium, potassium:sodium antiporter activity; symporter activityBiological Process: rhodopsin mediated signaling; phototransduction, visible light; visual perception; transport; calcium ion transport; response to light intensity; ion transport; transmembrane transportDisease: Night Blindness, Congenital Stationary, Type 1d |
UniProt Protein Details: | |
NCBI Summary: | This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. The encoded protein plays an important role in sodium/calcium exchange in retinal rod and cone photoreceptors by mediating the extrusion of one calcium ion and one potassium ion in exchange for four sodium ions. Mutations in this gene may play a role in congenital stationary night blindness. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] |
UniProt Code: | O60721 |
NCBI GenInfo Identifier: | 17865504 |
NCBI Gene ID: | 9187 |
NCBI Accession: | O60721.1 |
UniProt Secondary Accession: | O60721,O43485, O75184, Q17RM9 |
UniProt Related Accession: | O60721 |
Molecular Weight: | 117,632 Da |
NCBI Full Name: | Sodium/potassium/calcium exchanger 1 |
NCBI Synonym Full Names: | solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 |
NCBI Official Symbol: | SLC24A1 |
NCBI Official Synonym Symbols: | NCKX; RODX; NCKX1; CSNB1D; HsT17412 |
NCBI Protein Information: | sodium/potassium/calcium exchanger 1; retinal rod Na+/Ca+/K+ exchanger; solute carrier family 24 member 1; Na(+)/K(+)/Ca(2+)-exchange protein 1 |
UniProt Protein Name: | Sodium/potassium/calcium exchanger 1 |
UniProt Synonym Protein Names: | Na(+)/K(+)/Ca(2+)-exchange protein 1; Retinal rod Na-Ca+K exchanger; Solute carrier family 24 member 1 |
Protein Family: | Sodium/potassium/calcium exchanger |
UniProt Gene Name: | SLC24A1 |
UniProt Entry Name: | NCKX1_HUMAN |