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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Potential drug targets Transporters
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
1
Cytoband
p13.1
Chromosome location (bp)
115700021 - 115768714
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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, especially at the interface between subunits. Can bind around 60 Ca(2+) ions. Regulates the release of lumenal Ca(2+) via the calcium release channel RYR2; this plays an important role in triggering muscle contraction. Plays a role in excitation-contraction coupling in the heart and in regulating the rate of heart beats....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Muscle protein
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Calcium, Metal-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene specifies the cardiac muscle family member of the calsequestrin family. Calsequestrin is localized to the sarcoplasmic reticulum in cardiac and slow skeletal muscle cells. The protein is a calcium binding protein that stores calcium for muscle function. Mutations in this gene cause stress-induced polymorphic ventricular tachycardia, also referred to as catecholaminergic polymorphic ventricular tachycardia 2 (CPVT2), a disease characterized by bidirectional ventricular tachycardia that may lead to cardiac arrest. [provided by RefSeq, Jul 2008]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Transporters Accessory Factors Involved in Transport Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Predicted intracellular proteins Disease related genes Potential drug targets Human disease related genes Cardiovascular diseases Cardiac diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002027[regulation of heart rate] GO:0005509[calcium ion binding] GO:0005513[detection of calcium ion] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0006874[cellular calcium ion homeostasis] GO:0006941[striated muscle contraction] GO:0010649[regulation of cell communication by electrical coupling] GO:0010880[regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum] GO:0010881[regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion] GO:0014701[junctional sarcoplasmic reticulum membrane] GO:0016529[sarcoplasmic reticulum] GO:0030018[Z disc] GO:0033017[sarcoplasmic reticulum membrane] GO:0033018[sarcoplasmic reticulum lumen] GO:0034704[calcium channel complex] GO:0042803[protein homodimerization activity] GO:0043167[ion binding] GO:0043267[negative regulation of potassium ion transport] GO:0046872[metal ion binding] GO:0048306[calcium-dependent protein binding] GO:0051208[sequestering of calcium ion] GO:0051238[sequestering of metal ion] GO:0051258[protein polymerization] GO:0051279[regulation of release of sequestered calcium ion into cytosol] GO:0060048[cardiac muscle contraction] GO:0060306[regulation of membrane repolarization] GO:0060315[negative regulation of ryanodine-sensitive calcium-release channel activity] GO:0071313[cellular response to caffeine] GO:0086029[Purkinje myocyte to ventricular cardiac muscle cell signaling] GO:0140314[calcium ion sequestering activity] GO:1901017[negative regulation of potassium ion transmembrane transporter activity]
The Human Protein Atlas project is funded
