Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: SLC24A1 (solute carrier family 24 member 1) Homo sapiens
Analyze
Symbol: SLC24A1
Name: solute carrier family 24 member 1
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CSNB1D; HsT17412; KIAA0702; Na(+)/K(+)/Ca(2+)-exchange protein 1; NCKX; NCKX1; retinal rod Na+/Ca+/K+ exchanger; retinal rod Na-Ca+K exchanger; RODX; sodium/calcium/potassium exchanger; sodium/potassium/calcium exchanger 1; solute carrier family 24 (sodium/potassium/calcium exchanger), member 1
Orthologs:
Mus musculus (house mouse) : Slc24a1 (solute carrier family 24 (sodium/potassium/calcium exchanger), member 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Slc24a1 (solute carrier family 24 member 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Slc24a1 (solute carrier family 24 member 1)
Pan paniscus (bonobo/pygmy chimpanzee) : SLC24A1 (solute carrier family 24 member 1)
Canis lupus familiaris (dog) : SLC24A1 (solute carrier family 24 member 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Slc24a1 (solute carrier family 24 member 1)
Sus scrofa (pig) : SLC24A1 (solute carrier family 24 member 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381565,611,313 - 65,660,995 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371565,903,618 - 65,953,334 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361563,701,323 - 63,735,652 (+)NCBINCBI36hg18NCBI36
Build 341563,701,322 - 63,735,260NCBI
Celera1542,792,100 - 42,826,427 (+)NCBI
Cytogenetic Map15q22.31NCBI
HuRef1542,738,496 - 42,772,472 (+)NCBIHuRef
CHM1_11566,021,450 - 66,070,976 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated
RGD Disease Portals

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on SLC24A1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 736859
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.