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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.
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
19
Cytoband
q13.33
Chromosome location (bp)
49151198 - 49155396
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
May play a role in the regulation of calcium sequestration or release in the SR of skeletal and cardiac muscle....show less
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 luminal sarcoplasmic reticulum protein identified by its ability to bind low-density lipoprotein with high affinity. The protein interacts with the cytoplasmic domain of triadin, the main transmembrane protein of the junctional sarcoplasmic reticulum (SR) of skeletal muscle. The protein functions in the regulation of releasable calcium into the SR. [provided by RefSeq, Sep 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 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.
P23327 [Direct mapping] Sarcoplasmic reticulum histidine-rich calcium-binding protein
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Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins 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:0002027[regulation of heart rate] GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005788[endoplasmic reticulum lumen] GO:0006936[muscle contraction] GO:0008016[regulation of heart contraction] GO:0010460[positive regulation of heart rate] 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:0016529[sarcoplasmic reticulum] GO:0030018[Z disc] GO:0033017[sarcoplasmic reticulum membrane] GO:0033018[sarcoplasmic reticulum lumen] GO:0033135[regulation of peptidyl-serine phosphorylation] GO:0044325[transmembrane transporter binding] GO:0045823[positive regulation of heart contraction] GO:0051117[ATPase binding] GO:0051480[regulation of cytosolic calcium ion concentration] GO:0055074[calcium ion homeostasis] GO:0060314[regulation of ryanodine-sensitive calcium-release channel activity] GO:1901844[regulation of cell communication by electrical coupling involved in cardiac conduction] GO:1901899[positive regulation of relaxation of cardiac muscle] GO:1903169[regulation of calcium ion transmembrane transport]
The Human Protein Atlas project is funded
