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Aliases for SLC24A1 Gene

Aliases for SLC24A1 Gene

  • Solute Carrier Family 24 Member 1 2 3 4
  • Solute Carrier Family 24 (Sodium/Potassium/Calcium Exchanger), Member 1 2 3 5
  • Na(+)/K(+)/Ca(2+)-Exchange Protein 1 3 4
  • NCKX1 3 4
  • Retinal Rod Na+/Ca+/K+ Exchanger 3
  • Retinal Rod Na-Ca+K Exchanger 4
  • HsT17412 3
  • KIAA0702 4
  • CSNB1D 3
  • NCKX 3
  • RODX 3

External Ids for SLC24A1 Gene

Previous GeneCards Identifiers for SLC24A1 Gene

  • GC15P061706
  • GC15P059013
  • GC15P063482
  • GC15P063630
  • GC15P063690
  • GC15P065914
  • GC15P042738
  • GC15P066001

Summaries for SLC24A1 Gene

Entrez Gene Summary for SLC24A1 Gene

  • 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]

GeneCards Summary for SLC24A1 Gene

SLC24A1 (Solute Carrier Family 24 Member 1) is a Protein Coding gene. Diseases associated with SLC24A1 include night blindness, congenital stationary , 1d, autosomal recessive and congenital stationary night blindness. Among its related pathways are Signaling by GPCR and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include symporter activity and calcium, potassium:sodium antiporter activity. An important paralog of this gene is SLC24A2.

UniProtKB/Swiss-Prot for SLC24A1 Gene

  • 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(+).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC24A1 Gene

Genomics for SLC24A1 Gene

Regulatory Elements for SLC24A1 Gene

Promoters for SLC24A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC24A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC24A1 Gene

Chromosome:
15
Start:
65,611,366 bp from pter
End:
65,661,242 bp from pter
Size:
49,877 bases
Orientation:
Plus strand

Genomic View for SLC24A1 Gene

Genes around SLC24A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC24A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC24A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC24A1 Gene

Proteins for SLC24A1 Gene

  • Protein details for SLC24A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60721-NCKX1_HUMAN
    Recommended name:
    Sodium/potassium/calcium exchanger 1
    Protein Accession:
    O60721
    Secondary Accessions:
    • O43485
    • O75184
    • Q17RM9

    Protein attributes for SLC24A1 Gene

    Size:
    1099 amino acids
    Molecular mass:
    121374 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC24A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC24A1 Gene

Proteomics data for SLC24A1 Gene at MOPED

Post-translational modifications for SLC24A1 Gene

  • The uncleaved signal sequence is required for efficient membrane targeting and proper membrane integration.
  • Glycosylation at Asn 290
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for SLC24A1 Gene

Domains & Families for SLC24A1 Gene

Gene Families for SLC24A1 Gene

Protein Domains for SLC24A1 Gene

Suggested Antigen Peptide Sequences for SLC24A1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60721

UniProtKB/Swiss-Prot:

NCKX1_HUMAN :
  • Belongs to the sodium/potassium/calcium exchanger family. SLC24A subfamily.
Family:
  • Belongs to the sodium/potassium/calcium exchanger family. SLC24A subfamily.
genes like me logo Genes that share domains with SLC24A1: view

Function for SLC24A1 Gene

Molecular function for SLC24A1 Gene

GENATLAS Biochemistry:
solute carrier family 24 (sodium/potassium/calcium exchanger),calcium extrusion protein,exclusively expressed in retinal rod photoreceptor,outer segments
UniProtKB/Swiss-Prot 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(+).

Gene Ontology (GO) - Molecular Function for SLC24A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008273 calcium, potassium:sodium antiporter activity IEA,TAS --
GO:0030955 potassium ion binding IBA --
genes like me logo Genes that share ontologies with SLC24A1: view
genes like me logo Genes that share phenotypes with SLC24A1: view

Human Phenotype Ontology for SLC24A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SLC24A1 Gene

Localization for SLC24A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC24A1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC24A1 Gene COMPARTMENTS Subcellular localization image for SLC24A1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 3
cytosol 2
endoplasmic reticulum 1

No data available for Gene Ontology (GO) - Cellular Components for SLC24A1 Gene

Pathways & Interactions for SLC24A1 Gene

genes like me logo Genes that share pathways with SLC24A1: view

Pathways by source for SLC24A1 Gene

Gene Ontology (GO) - Biological Process for SLC24A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport TAS --
GO:0009642 response to light intensity NAS 9856482
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC24A1: view

No data available for SIGNOR curated interactions for SLC24A1 Gene

Drugs & Compounds for SLC24A1 Gene

(4) Drugs for SLC24A1 Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(1) Additional Compounds for SLC24A1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
genes like me logo Genes that share compounds with SLC24A1: view

Transcripts for SLC24A1 Gene

Unigene Clusters for SLC24A1 Gene

Solute carrier family 24 (sodium/potassium/calcium exchanger), member 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC24A1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15
SP1: -
SP2:
SP3:
SP4: -
SP5:
SP6: - - - - - -

Relevant External Links for SLC24A1 Gene

GeneLoc Exon Structure for
SLC24A1
ECgene alternative splicing isoforms for
SLC24A1

Expression for SLC24A1 Gene

mRNA expression in normal human tissues for SLC24A1 Gene

Protein differential expression in normal tissues from HIPED for SLC24A1 Gene

This gene is overexpressed in Cervix (32.6), Retina (17.5), and Pancreatic juice (16.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC24A1 Gene



SOURCE GeneReport for Unigene cluster for SLC24A1 Gene Hs.173092

mRNA Expression by UniProt/SwissProt for SLC24A1 Gene

O60721-NCKX1_HUMAN
Tissue specificity: Expressed in the retina, particularly in the inner segment, outer and inner nuclear layers, and ganglion cell layer.
genes like me logo Genes that share expression patterns with SLC24A1: view

Protein tissue co-expression partners for SLC24A1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SLC24A1 Gene

Orthologs for SLC24A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC24A1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC24A1 35
  • 83.24 (n)
  • 74.71 (a)
SLC24A1 36
  • 67 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC24A1 35
  • 82.87 (n)
  • 73.98 (a)
SLC24A1 36
  • 66 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc24a1 35
  • 75.89 (n)
  • 65.14 (a)
Slc24a1 16
Slc24a1 36
  • 67 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC24A1 35
  • 98.51 (n)
  • 97.9 (a)
SLC24A1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc24a1 35
  • 77.27 (n)
  • 67.57 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC24A1 36
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC24A1 36
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC24A1 35
  • 70.93 (n)
  • 72.94 (a)
SLC24A1 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc24a1 35
  • 67.09 (n)
  • 68.11 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.17601 35
zebrafish
(Danio rerio)
Actinopterygii slc24a1 35
  • 65.84 (n)
  • 65.95 (a)
slc24a1 36
  • 57 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG1090 37
  • 38 (a)
Nckx30C 36
  • 36 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ncx-4 37
  • 50 (a)
ncx-5 35
  • 57.44 (n)
  • 58.75 (a)
ncx-4 36
  • 46 (a)
ManyToMany
ncx-5 36
  • 39 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 49 (a)
OneToMany
Species with no ortholog for SLC24A1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC24A1 Gene

ENSEMBL:
Gene Tree for SLC24A1 (if available)
TreeFam:
Gene Tree for SLC24A1 (if available)

Paralogs for SLC24A1 Gene

Paralogs for SLC24A1 Gene

genes like me logo Genes that share paralogs with SLC24A1: view

Variants for SLC24A1 Gene

Sequence variations from dbSNP and Humsavar for SLC24A1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
VAR_050221 -
rs34363823 - 65,625,011(+) GAACA(C/G)TCCTG reference, missense
rs35571449 - 65,625,017(+) TCCTG(G/T)TGCAT reference, missense
rs1211944 -- 65,642,108(+) TGATT(C/T)TACAC intron-variant, upstream-variant-2KB
rs1058658 -- 65,655,093(+) AATTC(A/G)TGTTG intron-variant, downstream-variant-500B, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SLC24A1 Gene

Variant ID Type Subtype PubMed ID
nsv833042 CNV Loss 17160897
nsv904314 CNV Loss 21882294
dgv2400n71 CNV Loss 21882294
nsv820238 CNV Loss 19587683
nsv833043 CNV Loss 17160897

Variation tolerance for SLC24A1 Gene

Residual Variation Intolerance Score: 52.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.00; 84.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC24A1 Gene

HapMap Linkage Disequilibrium report
SLC24A1
Human Gene Mutation Database (HGMD)
SLC24A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC24A1 Gene

Disorders for SLC24A1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SLC24A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
night blindness, congenital stationary , 1d, autosomal recessive
  • congenital stationary night blindness, type 1d
congenital stationary night blindness
  • congenital essential nyctalopia
night blindness
autosomal recessive congenital stationary night blindness
  • autosomal recessive complete congenital stationary night blindness
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NCKX1_HUMAN
  • 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:0000269 PubMed:20850105}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC24A1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC24A1
genes like me logo Genes that share disorders with SLC24A1: view

No data available for Genatlas for SLC24A1 Gene

Publications for SLC24A1 Gene

  1. Chromosomal localization and genomic organization of the human retinal rod Na-Ca+K exchanger. (PMID: 9856482) Tucker J.E. … Schnetkamp P.P.M. (Hum. Genet. 1998) 2 3 4 23 67
  2. The SLC24 Na+/Ca2+-K+ exchanger family: vision and beyond. (PMID: 14770312) Schnetkamp P.P. (Pflugers Arch. 2004) 3 23
  3. Topology of the retinal cone NCKX2 Na/Ca-K exchanger. (PMID: 12600216) Kinjo T.G. … Schnetkamp P.P. (Biochemistry 2003) 3 23
  4. Molecular cloning and functional expression of the potassium- dependent sodium-calcium exchanger from human and chicken retinal cone photoreceptors. (PMID: 10662833) Prinsen C.F.M. … Schnetkamp P.P.M. (J. Neurosci. 2000) 3 23
  5. The retinal rod Na(+)/Ca(2+),K(+) exchanger contains a noncleaved signal sequence required for translocation of the N-terminus. (PMID: 10608890) McKiernan C.J. … Friedlander M. (J. Biol. Chem. 1999) 3 23

Products for SLC24A1 Gene

Sources for SLC24A1 Gene

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