ATP2A1
ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 1
Gene Information Card
| Symbol | ATP2A1 |
|---|---|
| Full Name | ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 487 ncbi.nlm.nih.gov/gene/487 |
| Ensembl ID | ENSG00000196296 |
| UniProt ID | O14983 |
| OMIM ID | 108730 |
| HGNC ID | 811 |
| Aliases | SERCA1, ATP2A, SERCA1A, SERCA1B |
Description
The ATP2A1 gene encodes the sarco(endo)plasmic reticulum calcium ATPase 1 (SERCA1), a P-type ATPase that pumps calcium ions from the cytosol into the sarcoplasmic reticulum in skeletal muscle. This transport is essential for muscle relaxation after contraction. Alternative splicing generates two isoforms: SERCA1a (adult fast-twitch muscle) and SERCA1b (neonatal muscle). Mutations in ATP2A1 cause Brody disease, an autosomal recessive disorder characterized by exercise-induced muscle stiffness and impaired relaxation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Brody disease | Loss-of-function mutations in ATP2A1 impair SERCA1-mediated calcium reuptake into the sarcoplasmic reticulum, leading to delayed muscle relaxation and exercise-induced myalgia. | ClinVar, OMIM #601003 |
| Brody myopathy | Homozygous or compound heterozygous missense/nonsense mutations reduce SERCA1 activity, causing myopathic features with elevated creatine kinase. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 112.5 | High |
| Heart | 1.2 | Low |
| Liver | 0.1 | Not detected |
| Brain | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| LHCN-M2 (myoblast) | 45.2 | Moderate expression in muscle progenitor cells |
| HSMM (skeletal muscle myotube) | 98.7 | High expression in differentiated myotubes |
| A549 (lung) | 0.5 | Negligible |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1906C>T (p.Arg636Cys) | Missense | Rare | Reduced calcium transport activity; associated with Brody disease |
| c.2299C>T (p.Arg767Ter) | Nonsense | Rare | Premature truncation; loss of function |
| c.1A>G (p.Met1Val) | Start loss | Rare | No protein production; complete loss of function |
Mutation functional classification
Loss of Function (LOF)
Most ATP2A1 mutations are loss-of-function, reducing or abolishing SERCA1 calcium pump activity, leading to Brody disease.
Gain of Function (GOF)
No gain-of-function mutations reported in ATP2A1.
Dominant Negative (DN)
No dominant-negative mutations described; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • calcium-transporting ATPase activity (GO:0005388) | • calcium ion transport (GO:0006816) |
| • integral component of membrane (GO:0016021) | • cellular amino acid metabolic process (GO:0006520) |
| • sarcoplasmic reticulum membrane (GO:0033017) |
Pathways
• REACT:111045 – Calcium signaling pathway
• REACT:111046 – Muscle contraction
• REACT:111047 – Ion transport by P-type ATPases
Protein Summary
SERCA1 is a 110 kDa transmembrane protein localized to the sarcoplasmic reticulum of fast-twitch skeletal muscle fibers. It catalyzes the ATP-dependent translocation of two Ca2+ ions per ATP hydrolyzed, maintaining low cytosolic calcium during muscle relaxation. The protein consists of three cytoplasmic domains (actuator, phosphorylation, nucleotide-binding) and ten transmembrane helices. Mutations disrupting its function cause Brody disease, characterized by exercise-induced muscle stiffness and delayed relaxation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP2A1 Knockout HEK293 Cell Line | EDJ-KQ1562 | Human | 487 | Details Get a Quote |
| ATP2A1 Knockout HeLa Cell Line | EDJ-KQ19877 | Human | 487 | Details Get a Quote |
| ATP2A1 Knockout A-549 Cell Line | EDJ-KQ21234 | Human | 487 | Details Get a Quote |
| ATP2A1 Knockout HCT 116 Cell Line | EDJ-KQ21235 | Human | 487 | Details Get a Quote |
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