InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC24A1

Summary

InnateDB Protein

IDBP-597545.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SLC24A1

Protein Name

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

Synonyms

CSNB1D; HsT17412; NCKX; NCKX1; RODX;

Species

Homo sapiens

Ensembl Protein

ENSP00000439190

InnateDB Gene

IDBG-17643 (SLC24A1)

Protein Structure

UniProt Annotation

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(+). {ECO:0000269PubMed:10608890}.

Subcellular Localization

Membrane; Multi-pass membrane protein.

Disease Associations

Night blindness, congenital stationary, 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. {ECO:0000269PubMed:20850105}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in the retina, particularly in the inner segment, outer and inner nuclear layers, and ganglion cell layer. {ECO:0000269PubMed:20850105}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	2 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0008273	calcium, potassium:sodium antiporter activity
GO:0015293	symporter activity

Biological Process

GO:0006810	transport
GO:0006811	ion transport
GO:0006816	calcium ion transport
GO:0007601	visual perception
GO:0007603	phototransduction, visible light
GO:0009642	response to light intensity
GO:0016056	rhodopsin mediated signaling pathway
GO:0035725	sodium ion transmembrane transport
GO:0055085	transmembrane transport

Cellular Component

GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0019867	outer membrane