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| Cat.No | ACP23257 | Target Name | CASQ1 |
|---|---|---|---|
| Form | Lyophilized powder | Expression System | Custom Production. Please inquire and provide the desire expression system. |
| Expression Range | 35-396 | Protein Length | Full Length of Mature Protein |
| Purity | >85% (SDS-PAGE) | Storage Buffer | 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0. |
| Target Species | Human | Uniprot ID | P31415 |
|---|
Uniprot Id
P31415
Target Species
Human
Target Name
CASQ1
Target Full Name
Calsequestrin-1
Target Function
Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle. Calcium ions are bound by clusters of acidic residues at the protein surface, often at the interface between subunits. Can bind around 80 Ca(2+) ions. Regulates the release of lumenal Ca(2+) via the calcium release channel RYR1; this plays an important role in triggering muscle contraction. Negatively regulates store-operated Ca(2+) entry (SOCE) activity.
Target Involvement
Myopathy, vacuolar, with CASQ1 aggregates (VMCQA); Myopathy, tubular aggregate, 1 (TAM1)
Target Subcellular Location
Endoplasmic reticulum. Sarcoplasmic reticulum. Sarcoplasmic reticulum lumen. Sarcoplasmic reticulum membrane; Peripheral membrane protein; Lumenal side. Mitochondrion matrix.
Target Protein Families
Calsequestrin family
Target Tissue Specificity
Expressed in myoblasts (at protein level).
Target Synonyms
Calmitin; Calmitine; Calsequestrin 1 (fast twitch; skeletal muscle); Calsequestrin; Calsequestrin; cell; Calsequestrin; skeletal muscle isoform; Calsequestrin-1; CASQ; Casq1; CASQ1_HUMAN; PDIB1; skeletal muscle isoform
Target Background
This gene encodes the skeletal muscle specific member of the calsequestrin protein family. Calsequestrin functions as a luminal sarcoplasmic reticulum calcium sensor in both cardiac and skeletal muscle cells. This protein, also known as calmitine, functions as a calcium regulator in the mitochondria of skeletal muscle. This protein is absent in patients with Duchenne and Becker types of muscular dystrophy.
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