HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SLC8A1
solute carrier family 8 member A1
Chromosome 2 · 2p22.1
NCBI Gene: 6546Ensembl: ENSG00000183023.19HGNC: HGNC:11068UniProt: A0A994J4U7
140PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of the force of heart contractionsodium ion import across plasma membranecytoskeletal protein bindingcalcium ion transmembrane transportAbnormality of the skeletal systemsmoking initiationbone fracturehypertension
✦AI Summary

SLC8A1 encodes the sodium-calcium exchanger NCX1, a plasma membrane antiporter that mediates the electrogenic exchange of one Ca²⁺ ion for three to four Na⁺ ions 123. This exchange is critical for cytoplasmic Ca²⁺ homeostasis and excitation-contraction coupling in cardiac muscle, where SLC8A1 exports intracellular Ca²⁺ during the repolarization phase following initial voltage-gated channel-mediated Ca²⁺ influx 123. SLC8A1 is subject to post-translational modification through palmitoylation, which modulates its membrane localization and function 4. Clinically, SLC8A1 dysfunction is implicated in cardiac arrhythmogenesis; genome editing to abolish SLC8A1 expression in human pluripotent stem cell-derived cardiomyocytes eliminates automaticity and prevents engraftment arrhythmias in transplantation models 5. Additionally, SLC8A1 regulation by the LKB1-SIK2 axis influences uveal melanoma progression through intracellular calcium and mitochondrial ROS accumulation, with SLC8A1 inhibition showing therapeutic potential 6. A circRNA-derived SLC8A1 protein isoform (SLC8a1-604) translocates to mitochondria and impairs cardiac function by suppressing mitochondrial gene transcription 7. SLC8A1 variants are also associated with cognitive function in adults 8, and alternative splicing of SLC8A1 requires the myocardial regulator RBPMS2 9.

Sources cited
1
SLC8A1 mediates Ca²⁺-Na⁺ exchange and Ca²⁺ export during excitation-contraction coupling
PMID: 11241183
2
SLC8A1 contributes to Ca²⁺ export and muscle contraction regulation
PMID: 1374913
3
SLC8A1 role in Ca²⁺ homeostasis and muscle function
PMID: 1476165
4
SLC8A1 (NCX1) is palmitoylated, affecting membrane localization and function
PMID: 37481134
5
SLC8A1 abolition prevents automaticity in cardiomyocytes and engraftment arrhythmias
PMID: 37028405
6
SLC8A1 upregulation via LKB1-SIK2 loss promotes uveal melanoma proliferation; SLC8A1 inhibition is therapeutic
PMID: 37966164
7
CircRNA-derived SLC8a1-604 protein translocates to mitochondria and impairs cardiac function
PMID: 40273295
8
SLC8A1 variants are associated with adult cognitive function
PMID: 37231097
9
RBPMS2 regulates alternative splicing of SLC8A1 in cardiomyocytes
PMID: 36367103
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.54Moderate
smoking initiationOpen Targets
0.41Moderate
bone fractureOpen Targets
0.41Moderate
hypertensionOpen Targets
0.40Moderate
essential hypertensionOpen Targets
0.40Moderate
radius fractureOpen Targets
0.33Weak
ulna fractureOpen Targets
0.33Weak
Abnormality of refractionOpen Targets
0.32Weak
Left bundle branch blockOpen Targets
0.29Weak
type 1 diabetes nephropathyOpen Targets
0.29Weak
brain aneurysmOpen Targets
0.28Weak
Hallux valgusOpen Targets
0.27Weak
Aganglionic megacolonOpen Targets
0.27Weak
nervous system diseaseOpen Targets
0.27Weak
alopecia areataOpen Targets
0.24Weak
neuroinflammatory disorderOpen Targets
0.24Weak
anti-GAD65 autoimmune neurological syndromesOpen Targets
0.21Weak
obesityOpen Targets
0.20Weak
multiple sclerosisOpen Targets
0.19Weak
polypOpen Targets
0.19Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PRKACAProtein interaction92%PRKACBProtein interaction92%PRKACGProtein interaction91%ATP2B2Protein interaction91%PRKG1Protein interaction91%PRKG2Protein interaction91%
Tissue Expression6 tissues
Heart
100%
Brain
15%
Lung
2%
Bone Marrow
2%
Liver
1%
Ovary
1%
Gene Interaction Network
Click a node to explore
SLC8A1PRKACAPRKACBPRKACGATP2B2PRKG1PRKG2
PROTEIN STRUCTURE
Preparing viewer…
PDB8SGI · 2.90 Å · EM
View on RCSB ↗
RankingsWhere SLC8A1 stands among ~20K protein-coding genes
  • #3,293of 20,598
    Most Researched140 · top quartile
Genes detectedSLC8A1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Cannabidiol inhibits human glioma by induction of lethal mitophagy through activating TRPV4.
PMID: 33629929
Autophagy · 2021
1.00
2
Statistically based splicing detection reveals neural enrichment and tissue-specific induction of circular RNA during human fetal development.
PMID: 26076956
Genome Biol · 2015
0.90
3
Gene editing to prevent ventricular arrhythmias associated with cardiomyocyte cell therapy.
PMID: 37028405
Cell Stem Cell · 2023
0.80
4
LKB1-SIK2 loss drives uveal melanoma proliferation and hypersensitivity to SLC8A1 and ROS inhibition.
PMID: 37966164
EMBO Mol Med · 2023
0.70
5
RBPMS2 Is a Myocardial-Enriched Splicing Regulator Required for Cardiac Function.
PMID: 36367103
Circ Res · 2022
0.60