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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 FDA approved drug targets Human disease related genes Plasma proteins 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
q43
Chromosome location (bp)
237042184 - 237833988
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Cytosolic calcium-activated calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytosol and thereby plays a key role in triggering cardiac muscle contraction. Aberrant channel activation can lead to cardiac arrhythmia. In cardiac myocytes, calcium release is triggered by increased Ca(2+) cytosolic levels due to activation of the L-type calcium channel CACNA1C. The calcium channel activity is modulated by formation of heterotetramers with RYR3. Required for cellular calcium ion homeostasis. Required for embryonic heart development....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Calcium channel, Calmodulin-binding, Developmental protein, Ion channel, Ligand-gated ion channel, Receptor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Calcium transport, Ion transport, Transport
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Calcium
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [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 Transporter channels and pores Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM 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 6TM proteins predicted by MDM Plasma proteins Disease related genes FDA approved drug targets Small molecule drugs 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) DeepTMHMM predicted membrane proteins
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GO:0001666[response to hypoxia] GO:0002027[regulation of heart rate] GO:0003143[embryonic heart tube morphogenesis] GO:0003220[left ventricular cardiac muscle tissue morphogenesis] GO:0003300[cardiac muscle hypertrophy] GO:0005216[ion channel activity] GO:0005219[ryanodine-sensitive calcium-release channel activity] GO:0005262[calcium channel activity] GO:0005509[calcium ion binding] GO:0005513[detection of calcium ion] GO:0005515[protein binding] GO:0005516[calmodulin binding] GO:0005790[smooth endoplasmic reticulum] GO:0005886[plasma membrane] GO:0006811[ion transport] GO:0006816[calcium ion transport] GO:0006874[cellular calcium ion homeostasis] GO:0010460[positive regulation of heart rate] GO:0010881[regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion] GO:0010882[regulation of cardiac muscle contraction by calcium ion signaling] GO:0014701[junctional sarcoplasmic reticulum membrane] GO:0014808[release of sequestered calcium ion into cytosol by sarcoplasmic reticulum] GO:0014850[response to muscle activity] GO:0015085[calcium ion transmembrane transporter activity] GO:0015278[calcium-release channel activity] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0016529[sarcoplasmic reticulum] GO:0019722[calcium-mediated signaling] GO:0019899[enzyme binding] GO:0019901[protein kinase binding] GO:0030017[sarcomere] GO:0030018[Z disc] GO:0030659[cytoplasmic vesicle membrane] GO:0031000[response to caffeine] GO:0032991[protein-containing complex] GO:0033017[sarcoplasmic reticulum membrane] GO:0034236[protein kinase A catalytic subunit binding] GO:0034237[protein kinase A regulatory subunit binding] GO:0034704[calcium channel complex] GO:0035584[calcium-mediated signaling using intracellular calcium source] GO:0035994[response to muscle stretch] GO:0042383[sarcolemma] GO:0042802[identical protein binding] GO:0043621[protein self-association] GO:0043924[suramin binding] GO:0044325[transmembrane transporter binding] GO:0048763[calcium-induced calcium release activity] GO:0051209[release of sequestered calcium ion into cytosol] GO:0051284[positive regulation of sequestering of calcium ion] GO:0051480[regulation of cytosolic calcium ion concentration] GO:0051649[establishment of localization in cell] GO:0051775[response to redox state] GO:0055085[transmembrane transport] GO:0055117[regulation of cardiac muscle contraction] GO:0060048[cardiac muscle contraction] GO:0060402[calcium ion transport into cytosol] GO:0070296[sarcoplasmic reticulum calcium ion transport] GO:0070588[calcium ion transmembrane transport] GO:0071313[cellular response to caffeine] GO:0071872[cellular response to epinephrine stimulus] GO:0072599[establishment of protein localization to endoplasmic reticulum] GO:0086005[ventricular cardiac muscle cell action potential] GO:0086029[Purkinje myocyte to ventricular cardiac muscle cell signaling] GO:0086064[cell communication by electrical coupling involved in cardiac conduction] GO:0097050[type B pancreatic cell apoptotic process] GO:0097159[organic cyclic compound binding] GO:0097553[calcium ion transmembrane import into cytosol] GO:0098735[positive regulation of the force of heart contraction] GO:0098904[regulation of AV node cell action potential] GO:0098907[regulation of SA node cell action potential] GO:0098910[regulation of atrial cardiac muscle cell action potential] GO:0098911[regulation of ventricular cardiac muscle cell action potential] GO:1901896[positive regulation of ATPase-coupled calcium transmembrane transporter activity]
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 3TM proteins predicted by MDM Human disease related genes Cardiovascular diseases Cardiac diseases Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
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GO:0005219[ryanodine-sensitive calcium-release channel activity] GO:0005509[calcium ion binding] GO:0006816[calcium ion transport] GO:0006874[cellular calcium ion homeostasis] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0051209[release of sequestered calcium ion into cytosol]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Cardiac diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
