SLC8A1: Sodium/Calcium Exchanger 1
Key regulator of cardiac calcium homeostasis and excitability
Gene Information Card
| Symbol | SLC8A1 |
|---|---|
| Full Name | Solute Carrier Family 8 Member A1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p22.1 |
| NCBI Gene ID | 6546 ncbi.nlm.nih.gov/gene/6546 |
| Ensembl ID | ENSG00000183023 |
| UniProt ID | P32418 |
| OMIM ID | 182305 |
| HGNC ID | 11006 |
| Aliases | NCX1, FLJ37694, MGC119581 |
Description
SLC8A1 encodes the sodium/calcium exchanger 1 (NCX1), a plasma membrane transporter that extrudes calcium from cells in exchange for sodium ions. It is essential for cardiac relaxation and maintaining calcium homeostasis, particularly in cardiomyocytes. The gene undergoes extensive alternative splicing, producing tissue-specific isoforms.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiac arrhythmia | Altered NCX1 activity disrupts calcium cycling, leading to delayed afterdepolarizations and triggered arrhythmias | ClinVar, OMIM |
| Heart failure | Upregulation of NCX1 contributes to calcium overload and contractile dysfunction | NCBI Gene, PubMed |
| Hypertrophic cardiomyopathy | Dysregulated calcium handling via NCX1 may promote hypertrophy | OMIM |
| Ischemic heart disease | NCX1 reverse-mode activity exacerbates calcium overload during ischemia-reperfusion | UniProt, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 78.5 | High |
| Skeletal muscle | 12.3 | Medium |
| Brain | 8.9 | Medium |
| Kidney | 6.2 | Low |
| Liver | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPSC-derived) | 85.0 | High expression; functional exchanger |
| HEK293 | 2.5 | Low endogenous expression |
| SH-SY5Y | 5.8 | Moderate expression; neuronal model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | <0.01% | Likely loss of function; associated with arrhythmia |
| c.2567C>T (p.Thr856Met) | Missense | <0.01% | Unknown significance; reported in ClinVar |
| c.3456_3457insA | Frameshift | Rare | Loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations that reduce calcium extrusion capacity, leading to calcium overload and arrhythmia risk.
Gain of Function (GOF)
Not well documented; some variants may increase reverse-mode exchange, contributing to calcium influx.
Dominant Negative (DN)
Not reported for SLC8A1.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005432 - calcium:sodium antiporter activity | • GO:0006816 - calcium ion transport |
| • GO:0006814 - sodium ion transport | • GO:0016021 - integral component of membrane |
| • GO:0070588 - calcium ion transmembrane transport |
Pathways
• Cardiac muscle contraction (KEGG: hsa04260)
• Calcium signaling pathway (KEGG: hsa04020)
• Adrenergic signaling in cardiomyocytes (KEGG: hsa04261)
Protein Summary
NCX1 is a 938-amino acid transmembrane protein with 9 transmembrane segments and a large intracellular loop. It operates in both forward (Ca2+ efflux) and reverse (Ca2+ influx) modes, driven by the sodium electrochemical gradient. It is a major determinant of cardiac relaxation and is regulated by intracellular calcium, sodium, and pH.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC8A1 Knockout HEK293 Cell Line | EDJ-KQ849 | Human | 6546 | Details Get a Quote |
| SLC8A1 Knockout HeLa Cell Line | EDJ-KQ54500 | Human | 6546 | Details Get a Quote |
| SLC8A1 Knockout A-549 Cell Line | EDJ-KQ62986 | Human | 6546 | Details Get a Quote |
| SLC8A1 Knockout HCT 116 Cell Line | EDJ-KQ71457 | Human | 6546 | Details Get a Quote |
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