Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SLC8A1 Gene

Aliases for SLC8A1 Gene

  • Solute Carrier Family 8 Member A1 2 3
  • Solute Carrier Family 8 (Sodium/Calcium Exchanger), Member 1 2 3 5
  • Solute Carrier Family 8 Member 1 3 4
  • Na(+)/Ca(2+)-Exchange Protein 1 3 4
  • Na+/Ca++ Exchanger 2 3
  • NCX1 3 4
  • Na+/Ca2+ Exchanger 3
  • CNC 4

External Ids for SLC8A1 Gene

Previous HGNC Symbols for SLC8A1 Gene

  • NCX1

Previous GeneCards Identifiers for SLC8A1 Gene

  • GC02M040318
  • GC02M040500
  • GC02M040316
  • GC02M040253
  • GC02M040339

Summaries for SLC8A1 Gene

Entrez Gene Summary for SLC8A1 Gene

  • In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM, Apr 2004]

GeneCards Summary for SLC8A1 Gene

SLC8A1 (Solute Carrier Family 8 Member A1) is a Protein Coding gene. Diseases associated with SLC8A1 include aromatase deficiency and corneal dystrophy, schnyder type. Among its related pathways are Platelet activation, signaling and aggregation and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include calmodulin binding and cytoskeletal protein binding. An important paralog of this gene is ADGRV1.

UniProtKB/Swiss-Prot for SLC8A1 Gene

  • Mediates the exchange of one Ca(2+) ion against three to four Na(+) ions across the cell membrane, and thereby contributes to the regulation of cytoplasmic Ca(2+) levels and Ca(2+)-dependent cellular processes (PubMed:1374913, PubMed:11241183, PubMed:1476165). Contributes to Ca(2+) transport during excitation-contraction coupling in muscle. In a first phase, voltage-gated channels mediate the rapid increase of cytoplasmic Ca(2+) levels due to release of Ca(2+) stores from the endoplasmic reticulum. SLC8A1 mediates the export of Ca(2+) from the cell during the next phase, so that cytoplasmic Ca(2+) levels rapidly return to baseline. Required for normal embryonic heart development and the onset of heart contractions.

Tocris Summary for SLC8A1 Gene

  • The Na+/Ca2+ exchanger (NCX) is a low affinity, high capacitance calcium antiporter membrane protein that functions to regulate intracellular calcium concentrations. It is located on the plasma, mitochondrial and endoplasmic reticular membranes of excitable cells.

No data available for Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC8A1 Gene

Genomics for SLC8A1 Gene

Regulatory Elements for SLC8A1 Gene

Genomic Location for SLC8A1 Gene

Chromosome:
2
Start:
40,097,270 bp from pter
End:
40,611,053 bp from pter
Size:
513,784 bases
Orientation:
Minus strand

Genomic View for SLC8A1 Gene

Genes around SLC8A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC8A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC8A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC8A1 Gene

Proteins for SLC8A1 Gene

  • Protein details for SLC8A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P32418-NAC1_HUMAN
    Recommended name:
    Sodium/calcium exchanger 1
    Protein Accession:
    P32418
    Secondary Accessions:
    • A8K6N1
    • D6W595
    • O95849
    • Q4QQG6
    • Q587I6
    • Q59GN4
    • Q9UBL8
    • Q9UD55
    • Q9UDN1
    • Q9UDN2
    • Q9UKX6

    Protein attributes for SLC8A1 Gene

    Size:
    973 amino acids
    Molecular mass:
    108547 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH98308.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC8A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC8A1 Gene

Proteomics data for SLC8A1 Gene at MOPED

Post-translational modifications for SLC8A1 Gene

  • Glycosylation at Asn 44 and Asn 160
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for SLC8A1 Gene

Domains & Families for SLC8A1 Gene

Gene Families for SLC8A1 Gene

Suggested Antigen Peptide Sequences for SLC8A1 Gene

Graphical View of Domain Structure for InterPro Entry

P32418

UniProtKB/Swiss-Prot:

NAC1_HUMAN :
  • The cytoplasmic Calx-beta domains bind the regulatory Ca(2+). The first Calx-beta domain can bind up to four Ca(2+) ions. The second domain can bind another two Ca(2+) ions that are essential for calcium-regulated ion exchange.
  • Belongs to the sodium/potassium/calcium exchanger family. SLC8 subfamily.
Domain:
  • The cytoplasmic Calx-beta domains bind the regulatory Ca(2+). The first Calx-beta domain can bind up to four Ca(2+) ions. The second domain can bind another two Ca(2+) ions that are essential for calcium-regulated ion exchange.
  • Contains 2 Calx-beta domains.
Family:
  • Belongs to the sodium/potassium/calcium exchanger family. SLC8 subfamily.
genes like me logo Genes that share domains with SLC8A1: view

Function for SLC8A1 Gene

Molecular function for SLC8A1 Gene

GENATLAS Biochemistry:
solute carrier family 8 (sodium-calcium exchange),member 1,cardiac,expressed in sarcolemma
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by micromolar levels of Ca(2+).
UniProtKB/Swiss-Prot Function:
Mediates the exchange of one Ca(2+) ion against three to four Na(+) ions across the cell membrane, and thereby contributes to the regulation of cytoplasmic Ca(2+) levels and Ca(2+)-dependent cellular processes (PubMed:1374913, PubMed:11241183, PubMed:1476165). Contributes to Ca(2+) transport during excitation-contraction coupling in muscle. In a first phase, voltage-gated channels mediate the rapid increase of cytoplasmic Ca(2+) levels due to release of Ca(2+) stores from the endoplasmic reticulum. SLC8A1 mediates the export of Ca(2+) from the cell during the next phase, so that cytoplasmic Ca(2+) levels rapidly return to baseline. Required for normal embryonic heart development and the onset of heart contractions.
genes like me logo Genes that share phenotypes with SLC8A1: view

Animal Models for SLC8A1 Gene

MGI Knock Outs for SLC8A1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC8A1 Gene

Localization for SLC8A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC8A1 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC8A1 Gene COMPARTMENTS Subcellular localization image for SLC8A1 gene
Compartment Confidence
plasma membrane 5
cytosol 3
mitochondrion 3
cytoskeleton 2
endoplasmic reticulum 2
extracellular 1

Gene Ontology (GO) - Cellular Components for SLC8A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IEA,ISS --
GO:0005874 microtubule IEA --
GO:0014704 intercalated disc TAS 17614935
genes like me logo Genes that share ontologies with SLC8A1: view

Pathways & Interactions for SLC8A1 Gene

genes like me logo Genes that share pathways with SLC8A1: view

Gene Ontology (GO) - Biological Process for SLC8A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002028 regulation of sodium ion transport IEA --
GO:0006811 ion transport TAS --
GO:0006816 calcium ion transport IEA --
GO:0006874 cellular calcium ion homeostasis IEA --
GO:0006883 cellular sodium ion homeostasis IDA 1374913
genes like me logo Genes that share ontologies with SLC8A1: view

No data available for SIGNOR curated interactions for SLC8A1 Gene

Drugs & Compounds for SLC8A1 Gene

(45) Drugs for SLC8A1 Gene - From: Novoseek, Tocris, DrugBank, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
alpha-linolenic acid Approved Nutra Full agonist, Agonist, Target 0
Icosapent Approved Nutra Target, inhibitor 0
Benzamil Pharma Channel blocker NCX inhibitor, Deg/ENaC channel blocker; amiloride (Cat. No. 0890) derivative 0
calcium Nutra 0

(35) Additional Compounds for SLC8A1 Gene - From: Novoseek, Tocris, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
Bepridil hydrochloride
68099-86-5
CGP 37157
75450-34-9
KB-R7943 mesylate
182004-65-5
SN-6
415697-08-4
genes like me logo Genes that share compounds with SLC8A1: view

Transcripts for SLC8A1 Gene

Unigene Clusters for SLC8A1 Gene

Solute carrier family 8 (sodium/calcium exchanger), member 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC8A1 Gene

No ASD Table

Relevant External Links for SLC8A1 Gene

GeneLoc Exon Structure for
SLC8A1
ECgene alternative splicing isoforms for
SLC8A1

Expression for SLC8A1 Gene

mRNA expression in normal human tissues for SLC8A1 Gene

mRNA differential expression in normal tissues according to GTEx for SLC8A1 Gene

This gene is overexpressed in Heart - Left Ventricle (x12.0) and Heart - Atrial Appendage (x7.3).

Protein differential expression in normal tissues from HIPED for SLC8A1 Gene

This gene is overexpressed in Fetal heart (34.8) and Frontal cortex (10.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC8A1 Gene



SOURCE GeneReport for Unigene cluster for SLC8A1 Gene Hs.31961

mRNA Expression by UniProt/SwissProt for SLC8A1 Gene

P32418-NAC1_HUMAN
Tissue specificity: Detected primarily in heart and at lower levels in brain (PubMed:1374913). Expressed in cardiac sarcolemma, brain, kidney, liver, pancreas, skeletal muscle, placenta and lung (PubMed:1476165).
genes like me logo Genes that share expression patterns with SLC8A1: view

Protein tissue co-expression partners for SLC8A1 Gene

In Situ Assay Products

Orthologs for SLC8A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC8A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC8A1 35
  • 99.69 (n)
  • 99.69 (a)
SLC8A1 36
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC8A1 36
  • 98 (a)
OneToOne
SLC8A1 35
  • 91.96 (n)
  • 97.32 (a)
dog
(Canis familiaris)
Mammalia SLC8A1 35
  • 93.31 (n)
  • 97.94 (a)
SLC8A1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc8a1 16
Slc8a1 36
  • 95 (a)
OneToOne
Slc8a1 35
  • 89.59 (n)
  • 95.05 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC8A1 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 90 (a)
OneToMany
-- 36
  • 93 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Slc8a1 35
  • 89.42 (n)
  • 95.26 (a)
chicken
(Gallus gallus)
Aves NCX1 36
  • 89 (a)
OneToOne
SLC8A1 35
  • 80.43 (n)
  • 90.51 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 92 (a)
OneToMany
-- 36
  • 71 (a)
OneToMany
SLC8A1 36
  • 94 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.23650 35
tropical clawed frog
(Silurana tropicalis)
Amphibia slc8a1 35
  • 78.93 (n)
  • 88.95 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11654 35
zebrafish
(Danio rerio)
Actinopterygii slc8a1a 36
  • 76 (a)
OneToMany
slc8a1b 36
  • 79 (a)
OneToMany
slc8a4a 36
  • 69 (a)
OneToMany
slc8a4b 36
  • 69 (a)
OneToMany
Dr.19052 35
slc8a1b 35
  • 71.44 (n)
  • 80.13 (a)
fruit fly
(Drosophila melanogaster)
Insecta Calx 37
  • 46 (a)
Calx 36
  • 45 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ncx-1 35
  • 54.05 (n)
  • 50.91 (a)
ncx-2 37
  • 45 (a)
Y113G7A.4 37
  • 45 (a)
ncx-1 36
  • 49 (a)
ManyToMany
ncx-2 36
  • 45 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
ManyToMany
-- 36
  • 72 (a)
ManyToMany
Species with no ortholog for SLC8A1:
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 SLC8A1 Gene

ENSEMBL:
Gene Tree for SLC8A1 (if available)
TreeFam:
Gene Tree for SLC8A1 (if available)

Paralogs for SLC8A1 Gene

Paralogs for SLC8A1 Gene

(6) SIMAP similar genes for SLC8A1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with SLC8A1: view

Variants for SLC8A1 Gene

Sequence variations from dbSNP and Humsavar for SLC8A1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_014847 -
rs381627 -- 40,260,454(-) TAAGT(C/G)AATCA intron-variant
rs485253 -- 40,261,921(-) GTGGA(A/G)CAAAT intron-variant
rs487119 -- 40,261,737(+) ACTGC(A/G)TAAGT intron-variant
rs398175 -- 40,257,397(+) AATGA(C/T)GATTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC8A1 Gene

Variant ID Type Subtype PubMed ID
nsv833892 CNV Loss 17160897
dgv4094n71 CNV Gain 21882294
nsv873903 CNV Gain 21882294
nsv873905 CNV Loss 21882294
dgv4095n71 CNV Loss 21882294
nsv873908 CNV Loss 21882294
nsv873909 CNV Loss 21882294
nsv873910 CNV Gain 21882294
dgv215n21 CNV Loss 19592680
nsv873911 CNV Gain 21882294
esv2719954 CNV Deletion 23290073
esv2719955 CNV Deletion 23290073
esv2719956 CNV Deletion 23290073
esv34071 CNV Loss 18971310
esv2719957 CNV Deletion 23290073
esv4917 CNV Deletion 18987735
esv2719958 CNV Deletion 23290073
esv995388 CNV Deletion 20482838
esv1125657 CNV Deletion 17803354
esv2719959 CNV Deletion 23290073
nsv524586 CNV Loss 19592680
nsv873912 CNV Loss 21882294
nsv873913 CNV Loss 21882294
esv2719960 CNV Deletion 23290073
esv2719961 CNV Deletion 23290073
esv2234750 CNV Deletion 18987734
esv2719963 CNV Deletion 23290073
esv991008 CNV Deletion 20482838
esv1427276 CNV Deletion 17803354
dgv1179e1 CNV Complex 17122850
esv2536757 CNV Deletion 19546169
nsv873914 CNV Loss 21882294
nsv873915 CNV Loss 21882294
nsv516330 CNV Loss 19592680
nsv2698 CNV Insertion 18451855
nsv873916 CNV Gain 21882294
nsv9658 CNV Loss 18304495
esv25665 CNV Loss 19812545
esv2672782 CNV Deletion 23128226
esv274519 CNV Insertion 20981092
esv270790 CNV Insertion 20981092
nsv2700 CNV Loss 18451855
nsv873917 CNV Gain 21882294

Variation tolerance for SLC8A1 Gene

Residual Variation Intolerance Score: 6.14% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.40; 27.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC8A1 Gene

HapMap Linkage Disequilibrium report
SLC8A1
Human Gene Mutation Database (HGMD)
SLC8A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC8A1 Gene

Disorders for SLC8A1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for SLC8A1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
aromatase deficiency
  • congenital estrogen deficiency
corneal dystrophy, schnyder type
  • schnyder corneal dystrophy
anoxia
dravet syndrome
  • dravet syndrome, modifier of
cardiomyopathy
  • cardiomyopathies
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC8A1

Genetic Association Database (GAD)
SLC8A1
Human Genome Epidemiology (HuGE) Navigator
SLC8A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC8A1
genes like me logo Genes that share disorders with SLC8A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC8A1 Gene

Publications for SLC8A1 Gene

  1. Association of genetic polymorphisms of sodium-calcium exchanger 1 gene, NCX1, with hypertension in a Japanese general population. (PMID: 15785003) Kokubo Y. … Miyata T. (Hypertens. Res. 2004) 3 23 48 67
  2. Hypervariable intronic region in NCX1 is enriched in short insertion-deletion polymorphisms and showed association with cardiovascular traits. (PMID: 20109173) Kepp K. … Laan M. (BMC Med. Genet. 2010) 3 23
  3. Membrane targeting and coupling of NHE1-integrinalphaIIbbeta3-NCX1 by lipid rafts following integrin-ligand interactions trigger Ca2+ oscillations. (PMID: 18996841) Yi Y.H. … Lin C.H. (J. Biol. Chem. 2009) 3 23
  4. Reactive oxygen species directly modify sodium-calcium exchanger activity in a splice variant-dependent manner. (PMID: 19481548) Soliman D. … Light P.E. (J. Mol. Cell. Cardiol. 2009) 3 23
  5. The participation of the Na+-Ca2+ exchanger in primary cardiac myofibroblast migration, contraction, and proliferation. (PMID: 17541957) Raizman J.E. … Dixon I.M. (J. Cell. Physiol. 2007) 3 23

Products for SLC8A1 Gene

Sources for SLC8A1 Gene

Back to Top

Content