Rabbit anti-Human Calsequestrin 1 Monoclonal Antibody

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.