SLN (Sarcolipin) Gene
Key Regulator of Sarco(endo)plasmic Reticulum Calcium ATPase (SERCA) in Muscle
Gene Information Card
| Symbol | SLN |
|---|---|
| Full Name | Sarcolipin |
| Gene Type | Protein coding |
| Chromosomal Location | 11q22.3 |
| NCBI Gene ID | 6588 ncbi.nlm.nih.gov/gene/6588 |
| Ensembl ID | ENSG00000170290 |
| UniProt ID | O00631 |
| OMIM ID | 602203 |
| HGNC ID | 11089 |
| Aliases | MGC117256, MGC117257 |
Description
The SLN gene encodes sarcolipin, a small transmembrane protein that regulates the sarco(endo)plasmic reticulum calcium ATPase (SERCA) in muscle cells. Sarcolipin inhibits SERCA activity by reducing calcium affinity, thereby modulating calcium cycling and muscle contractility. It is predominantly expressed in skeletal and cardiac muscle.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dilated cardiomyopathy (DCM) | SLN overexpression or mutations impair SERCA function, leading to altered calcium handling and contractile dysfunction. | ClinVar, OMIM |
| Heart failure | Increased SLN expression contributes to reduced SERCA activity and diastolic dysfunction. | NCBI, PubMed |
| Muscle fatigue | SLN-mediated SERCA inhibition affects calcium reuptake, influencing muscle relaxation and fatigue resistance. | UniProt, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 29.1 | High |
| Heart | 15.2 | Medium |
| Adipose tissue | 0.3 | Low |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| RH-30 (rhabdomyosarcoma) | 12.5 | Skeletal muscle lineage |
| H9c2 (rat cardiomyocyte) | 8.3 | Cardiac muscle model |
| HEK293 | 0.2 | Non-muscle control |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.23C>T (p.Thr8Ile) | Missense | <0.01% | Alters protein stability, reduced SERCA inhibition |
| c.47G>A (p.Arg16His) | Missense | <0.01% | Impaired binding to SERCA, dominant negative effect |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt sarcolipin expression or SERCA binding, leading to reduced inhibition and altered calcium handling.
Gain of Function (GOF)
Not well documented; overexpression in heart failure suggests a gain-of-function effect via increased SERCA inhibition.
Dominant Negative (DN)
p.Arg16His variant may act as dominant negative by competing with wild-type sarcolipin for SERCA binding.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Calcium signaling pathway (KEGG: hsa04020)
• Cardiac muscle contraction (KEGG: hsa04260)
• SERCA regulation in muscle (Reactome: R-HSA-5578775)
Protein Summary
Sarcolipin is a 31-amino acid transmembrane protein that directly interacts with and inhibits SERCA1a and SERCA2a. It reduces the apparent calcium affinity of SERCA, thereby modulating calcium uptake into the sarcoplasmic reticulum. This regulation is critical for muscle relaxation and contractile force. Dysregulation of sarcolipin is implicated in heart failure and dilated cardiomyopathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLN Knockout HEK293 Cell Line | EDJ-KQ50636 | Human | 6588 | Details Get a Quote |
| SLN Knockout HeLa Cell Line | EDJ-KQ54523 | Human | 6588 | Details Get a Quote |
| SLN Knockout A-549 Cell Line | EDJ-KQ63007 | Human | 6588 | Details Get a Quote |
| SLN Knockout HCT 116 Cell Line | EDJ-KQ71480 | Human | 6588 | Details Get a Quote |
