SRL Gene (Sarcalumenin)
Sarcalumenin: A Calcium-Binding Protein in Sarcoplasmic Reticulum
Gene Information Card
| Symbol | SRL |
|---|---|
| Full Name | Sarcalumenin |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 6345 ncbi.nlm.nih.gov/gene/6345 |
| Ensembl ID | ENSG00000103197 |
| UniProt ID | O76013 |
| OMIM ID | 604572 |
| HGNC ID | 11294 |
| Aliases | SAR, SRL1, SRL2 |
Description
The SRL gene encodes sarcalumenin, a calcium-binding protein localized to the sarcoplasmic reticulum in skeletal and cardiac muscle. It plays a role in calcium storage and release, contributing to muscle contraction and relaxation. Alternative splicing generates multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dilated cardiomyopathy | Altered calcium handling due to sarcalumenin deficiency | NCBI Gene, OMIM |
| Muscular dystrophy | Impaired sarcoplasmic reticulum function | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 45.2 | Medium |
| Skeletal muscle | 38.7 | Medium |
| Brain | 1.2 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| RH-30 (rhabdomyosarcoma) | 12.3 | Moderate expression |
| H9c2 (rat cardiomyocyte) | 8.9 | Moderate expression |
| HeLa | 0.2 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | <0.01% | Altered calcium binding |
| c.567delA | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated sarcalumenin, impairing calcium storage.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding (GO:0005509) | • endoplasmic reticulum (GO:0005783) |
| • sarcoplasmic reticulum (GO:0016529) | • release of sequestered calcium ion into cytosol (GO:0051209) |
Pathways
• Calcium signaling pathway (KEGG: hsa04020)
• Cardiac muscle contraction (KEGG: hsa04260)
Protein Summary
Sarcalumenin is a 160 kDa calcium-binding glycoprotein located in the lumen of the sarcoplasmic reticulum. It binds calcium with moderate affinity and high capacity, facilitating calcium storage and release during muscle contraction. It interacts with other sarcoplasmic reticulum proteins such as SERCA and calsequestrin.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SRL Knockout HEK293 Cell Line | EDJ-KQ5728 | Human | 6345 | Details Get a Quote |
| SRL Knockout HeLa Cell Line | EDJ-KQ54411 | Human | 6345 | Details Get a Quote |
| SRL Knockout A-549 Cell Line | EDJ-KQ62900 | Human | 6345 | Details Get a Quote |
| SRL Knockout HCT 116 Cell Line | EDJ-KQ71367 | Human | 6345 | Details Get a Quote |
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