CASQ1 report

I. Expression across cell types

Insufficient scRNA-seq data for expression of CASQ1 at single-cell level.

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of CASQ1 at tissue level.

III. Associated gene sets

GO_0009408Biological processresponse to heat
GO_0007519Biological processskeletal muscle tissue development
GO_0007029Biological processendoplasmic reticulum organization
GO_0014894Biological processresponse to denervation involved in regulation of muscle adaptation
GO_1901341Biological processpositive regulation of store-operated calcium channel activity
GO_0051258Biological processprotein polymerization
GO_0051281Biological processpositive regulation of release of sequestered calcium ion into cytosol
GO_0045214Biological processsarcomere organization
GO_0014809Biological processregulation of skeletal muscle contraction by regulation of release of sequestered calcium ion
GO_2001256Biological processregulation of store-operated calcium entry
GO_0030018Cellular componentZ disc
GO_0005739Cellular componentmitochondrion
GO_0005790Cellular componentsmooth endoplasmic reticulum
GO_0033018Cellular componentsarcoplasmic reticulum lumen
GO_0014804Cellular componentterminal cisterna lumen
GO_0030315Cellular componentT-tubule
GO_0005783Cellular componentendoplasmic reticulum
GO_0005759Cellular componentmitochondrial matrix
GO_0016529Cellular componentsarcoplasmic reticulum
GO_0033017Cellular componentsarcoplasmic reticulum membrane
GO_0042802Molecular functionidentical protein binding
GO_0005509Molecular functioncalcium ion binding
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameCASQ1
Protein nameCalsequestrin
Calsequestrin-1 (Calmitine) (Calsequestrin, skeletal muscle isoform)
SynonymsCASQ
DescriptionFUNCTION: 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 . .

FUNCTION: Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle. .

AccessionsP31415
C9JAC8
ENST00000368078.8
ENST00000467691.1