Version 5.4
Homo sapiens Gene: SLC24A1
Summary
InnateDB Gene IDBG-17643.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SLC24A1
Gene Name solute carrier family 24 (sodium/potassium/calcium exchanger), member 1
Synonyms CSNB1D; HsT17412; NCKX; NCKX1; RODX
Species Homo sapiens
Ensembl Gene ENSG00000074621
Encoded Proteins
IDBP-17645
solute carrier family 24 (sodium/potassium/calcium exchanger), member 1
IDBP-17647
solute carrier family 24 (sodium/potassium/calcium exchanger), member 1
IDBP-231638
solute carrier family 24 (sodium/potassium/calcium exchanger), member 1
IDBP-598809
solute carrier family 24 (sodium/potassium/calcium exchanger), member 1
IDBP-592903
solute carrier family 24 (sodium/potassium/calcium exchanger), member 1
IDBP-589144
solute carrier family 24 (sodium/potassium/calcium exchanger), member 1
IDBP-597545
solute carrier family 24 (sodium/potassium/calcium exchanger), member 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 15:65611366-65660995
Strand Forward strand
Band q22.31
Transcripts
ENST00000261892 ENSP00000261892
ENST00000339868 ENSP00000341837
ENST00000399033 ENSP00000381991
ENST00000425561
ENST00000434116
ENST00000449142
ENST00000505666 ENSP00000445577
ENST00000537259 ENSP00000439693
ENST00000535950
ENST00000544319 ENSP00000445163
ENST00000546330 ENSP00000439190
ENST00000539516
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000034452
View Gene Order
ENSBTAG00000025826
Not yet available
Pathways
NETPATH
REACTOME
REACT_19320
Sodium/Calcium exchangers pathway
REACT_19397
Transport of inorganic cations/anions and amino acids/oligopeptides pathway
REACT_15518
Transmembrane transport of small molecules pathway
REACT_163932
Activation of the phototransduction cascade pathway
REACT_111102
Signal Transduction pathway
REACT_160102
Diseases associated with visual transduction pathway
REACT_160125
Visual phototransduction pathway
REACT_163722
The phototransduction cascade pathway
REACT_19118
SLC-mediated transmembrane transport pathway
REACT_116125
Disease pathway
KEGG
hsa04744
Phototransduction pathway
INOH
PID NCI
rhodopsin_pathway
Visual signal transduction: Rods
Cross-References
SwissProt O60721
TrEMBL
UniProt Splice Variant
Entrez Gene 9187
UniGene Hs.173092 Hs.617821 Hs.739856
RefSeq NM_001301032 XM_005254779 NM_001254740 NM_001301031 NM_001301033 NM_004727 XM_005254778 XM_005254780 XM_006720764 XM_006720765 XM_006720768
HUGO HGNC:10975
OMIM 603617
CCDS CCDS73743 CCDS45284 CCDS73742 CCDS73744
HPRD 04685
IMGT
EMBL AB014602 AC011939 AC027220 AF026132 AF062921 AF062922 BC117263 BC143375
GenPept AAB97832 AAC16732 AAC77912 AAI17264 AAI43376 BAA31677
RNA Seq Atlas 9187

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca