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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 Plasma proteins 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
6
Cytoband
q22.31
Chromosome location (bp)
123216339 - 123637093
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Contributes to the regulation of lumenal Ca2+ release via the sarcoplasmic reticulum calcium release channels RYR1 and RYR2, a key step in triggering skeletal and heart muscle contraction. Required for normal organization of the triad junction, where T-tubules and the sarcoplasmic reticulum terminal cisternae are in close contact (By similarity). Required for normal skeletal muscle strength. Plays a role in excitation-contraction coupling in the heart and in regulating the rate of heart beats....show less
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes an integral membrane protein found in skeletal and cardiac muscle. The encoded protein plays a role in skeletal muscle excitation-contraction coupling as part of the calcium release complex and is required for normal skeletal muscle strength. This protein indirectly links triads and microtubules in skeletal muscle. Mutations in this gene are associated with cardiac arrythmia syndrome and some variants in this gene may be associated with sudden cardiac death. [provided by RefSeq, May 2022]...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 ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
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 Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Transporters Accessory Factors Involved in Transport Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Plasma 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)
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GO:0005102[signaling receptor binding] GO:0005515[protein binding] GO:0005783[endoplasmic reticulum] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006874[cellular calcium ion homeostasis] GO:0006936[muscle contraction] GO:0009617[response to bacterium] GO:0010649[regulation of cell communication by electrical coupling] GO:0010880[regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum] GO:0014701[junctional sarcoplasmic reticulum membrane] GO:0014808[release of sequestered calcium ion into cytosol by sarcoplasmic reticulum] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0016529[sarcoplasmic reticulum] GO:0030314[junctional membrane complex] GO:0030674[protein-macromolecule adaptor activity] GO:0031122[cytoplasmic microtubule organization] GO:0033017[sarcoplasmic reticulum membrane] GO:0033018[sarcoplasmic reticulum lumen] GO:0044325[transmembrane transporter binding] GO:0051279[regulation of release of sequestered calcium ion into cytosol] GO:0051649[establishment of localization in cell] GO:0060047[heart contraction] GO:0060315[negative regulation of ryanodine-sensitive calcium-release channel activity] GO:0060316[positive regulation of ryanodine-sensitive calcium-release channel activity] GO:0086036[regulation of cardiac muscle cell membrane potential] GO:0090158[endoplasmic reticulum membrane organization] GO:1901846[positive regulation of cell communication by electrical coupling involved in cardiac conduction]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Cardiac diseases
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Cardiac diseases
Transporters Accessory Factors Involved in Transport Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Plasma 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)
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GO:0005102[signaling receptor binding] GO:0005515[protein binding] GO:0005783[endoplasmic reticulum] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006874[cellular calcium ion homeostasis] GO:0006936[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:0014701[junctional sarcoplasmic reticulum membrane] GO:0014808[release of sequestered calcium ion into cytosol by sarcoplasmic reticulum] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0016529[sarcoplasmic reticulum] GO:0030314[junctional membrane complex] GO:0030674[protein-macromolecule adaptor activity] GO:0031122[cytoplasmic microtubule organization] GO:0033017[sarcoplasmic reticulum membrane] GO:0033018[sarcoplasmic reticulum lumen] GO:0044325[transmembrane transporter binding] GO:0051279[regulation of release of sequestered calcium ion into cytosol] GO:0060047[heart contraction] GO:0060315[negative regulation of ryanodine-sensitive calcium-release channel activity] GO:0060316[positive regulation of ryanodine-sensitive calcium-release channel activity] GO:0086036[regulation of cardiac muscle cell membrane potential] GO:0090158[endoplasmic reticulum membrane organization] GO:1901846[positive regulation of cell communication by electrical coupling involved in cardiac conduction]
Transporters Accessory Factors Involved in Transport Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Plasma 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)
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GO:0005102[signaling receptor binding] GO:0005515[protein binding] GO:0005783[endoplasmic reticulum] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006874[cellular calcium ion homeostasis] GO:0006936[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:0014701[junctional sarcoplasmic reticulum membrane] GO:0014808[release of sequestered calcium ion into cytosol by sarcoplasmic reticulum] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0016529[sarcoplasmic reticulum] GO:0030314[junctional membrane complex] GO:0030674[protein-macromolecule adaptor activity] GO:0031122[cytoplasmic microtubule organization] GO:0033017[sarcoplasmic reticulum membrane] GO:0033018[sarcoplasmic reticulum lumen] GO:0044325[transmembrane transporter binding] GO:0051279[regulation of release of sequestered calcium ion into cytosol] GO:0060047[heart contraction] GO:0060315[negative regulation of ryanodine-sensitive calcium-release channel activity] GO:0060316[positive regulation of ryanodine-sensitive calcium-release channel activity] GO:0086036[regulation of cardiac muscle cell membrane potential] GO:0090158[endoplasmic reticulum membrane organization] GO:1901846[positive regulation of cell communication by electrical coupling involved in cardiac conduction]
The Human Protein Atlas project is funded
