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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
q23.2
Chromosome location (bp)
160190575 - 160201886
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 1. 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 2. 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 3....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
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. [provided by RefSeq, Jun 2013]...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 MEMSAT3 predicted membrane proteins 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 Musculoskeletal diseases Muscular diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0005783[endoplasmic reticulum] GO:0005790[smooth endoplasmic reticulum] GO:0005794[Golgi apparatus] GO:0007029[endoplasmic reticulum organization] GO:0007519[skeletal muscle tissue development] GO:0009408[response to heat] GO:0010033[response to organic substance] GO:0010880[regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum] GO:0014802[terminal cisterna] GO:0014804[terminal cisterna lumen] GO:0014809[regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion] GO:0014870[response to muscle inactivity] GO:0014894[response to denervation involved in regulation of muscle adaptation] GO:0016020[membrane] GO:0016529[sarcoplasmic reticulum] GO:0030016[myofibril] GO:0030018[Z disc] GO:0030315[T-tubule] GO:0031674[I band] GO:0033017[sarcoplasmic reticulum membrane] GO:0033018[sarcoplasmic reticulum lumen] GO:0042383[sarcolemma] GO:0042802[identical protein binding] GO:0043231[intracellular membrane-bounded organelle] GO:0045214[sarcomere organization] GO:0046872[metal ion binding] GO:0051258[protein polymerization] GO:0051279[regulation of release of sequestered calcium ion into cytosol] GO:0051281[positive regulation of release of sequestered calcium ion into cytosol] GO:0051282[regulation of sequestering of calcium ion] GO:1901341[positive regulation of store-operated calcium channel activity] GO:2001256[regulation of store-operated calcium entry]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)