SLC24A1

SLC24A1 belongs to a family of potassium-dependent sodium/calcium exchangers. Members of this family have 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments (Schnetkamp, 2004 [PubMed 14770312]).[supplied by OMIM

Full Name

solute carrier family 24 (sodium/potassium/calcium exchanger), member 1

Function

Calcium, potassium:sodium antiporter that transports 1 Ca2+ and 1 K+ in exchange for 4 Na+ (PubMed:26631410).
Critical component of the visual transduction cascade, controlling the calcium concentration of outer segments during light and darkness (PubMed:20850105).
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 (PubMed:20850105).

Biological Process

Biological Process calcium ion import across plasma membraneBy SimilarityISS:ARUK-UCL
Biological Process calcium ion transmembrane transportManual Assertion Based On ExperimentIDA:ARUK-UCL
Biological Process calcium ion transport1 PublicationNAS:UniProtKB
Biological Process cellular calcium ion homeostasisManual Assertion Based On ExperimentIDA:ARUK-UCL
Biological Process ion transportTAS:Reactome
Biological Process long-term synaptic depressionManual Assertion Based On ExperimentIBA:GO_Central
Biological Process long-term synaptic potentiationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process potassium ion transmembrane transportManual Assertion Based On ExperimentIDA:ARUK-UCL
Biological Process response to light intensity1 PublicationNAS:UniProtKB
Biological Process sodium ion transmembrane transportManual Assertion Based On ExperimentIDA:ARUK-UCL
Biological Process visual perception1 PublicationNAS:UniProtKB

Cellular Location

Cell membrane

Involvement in disease

Night blindness, congenital stationary, 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.

PTM

The uncleaved signal sequence is required for efficient membrane targeting and proper membrane integration.