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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
11
Cytoband
p15.4
Chromosome location (bp)
3854527 - 4093210
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Acts as a Ca(2+) sensor that gates two major inward rectifying Ca(2+) channels at the plasma membrane: Ca(2+) release-activated Ca(2+) (CRAC) channels and arachidonate-regulated Ca(2+)- selective (ARC) channels 1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20. Plays a role in mediating store-operated Ca(2+) entry (SOCE), a Ca(2+) influx following depletion of intracellular Ca(2+) stores. Upon Ca(2+) depletion, translocates from the endoplasmic reticulum to the plasma membrane where it activates CRAC channel pore-forming subunits ORA1, ORA2 and ORAI3 to generate sustained and oscillatory Ca(2+) entry 21,22,23. Involved in enamel formation 24....show less
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, Metal-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a type 1 transmembrane protein that mediates Ca2+ influx after depletion of intracellular Ca2+ stores by gating of store-operated Ca2+ influx channels (SOCs). It is one of several genes located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocrotical carcinoma, and lung, ovarian, and breast cancer. This gene may play a role in malignancies and disease that involve this region, as well as early hematopoiesis, by mediating attachment to stromal cells. Mutations in this gene are associated with fatal classic Kaposi sarcoma, immunodeficiency due to defects in store-operated calcium entry (SOCE) in fibroblasts, ectodermal dysplasia and tubular aggregate myopathy. This gene is oriented in a head-to-tail configuration with the ribonucleotide reductase 1 gene (RRM1), with the 3' end of this gene situated 1.6 kb from the 5' end of the RRM1 gene. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 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.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Hematologic diseases Immune system diseases Primary immunodeficiency Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
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GO:0005246[calcium channel regulator activity] GO:0016020[membrane] GO:0030176[integral component of endoplasmic reticulum membrane] GO:0032237[activation of store-operated calcium channel activity] GO:0046872[metal ion binding] GO:0051924[regulation of calcium ion transport]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Hematologic diseases Immune system diseases Primary immunodeficiency Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005246[calcium channel regulator activity] GO:0005515[protein binding] GO:0016020[membrane] GO:0030176[integral component of endoplasmic reticulum membrane] GO:0032237[activation of store-operated calcium channel activity] GO:0046872[metal ion binding] GO:0051924[regulation of calcium ion transport]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Hematologic diseases Immune system diseases Primary immunodeficiency Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005246[calcium channel regulator activity] GO:0005515[protein binding] GO:0016020[membrane] GO:0030176[integral component of endoplasmic reticulum membrane] GO:0032237[activation of store-operated calcium channel activity] GO:0046872[metal ion binding] GO:0051924[regulation of calcium ion transport]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Hematologic diseases Immune system diseases Primary immunodeficiency Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005246[calcium channel regulator activity] GO:0005515[protein binding] GO:0016020[membrane] GO:0030176[integral component of endoplasmic reticulum membrane] GO:0032237[activation of store-operated calcium channel activity] GO:0046872[metal ion binding] GO:0051924[regulation of calcium ion transport]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Hematologic diseases Immune system diseases Primary immunodeficiency Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005246[calcium channel regulator activity] GO:0005515[protein binding] GO:0016020[membrane] GO:0030176[integral component of endoplasmic reticulum membrane] GO:0032237[activation of store-operated calcium channel activity] GO:0046872[metal ion binding] GO:0051924[regulation of calcium ion transport]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Hematologic diseases Immune system diseases Primary immunodeficiency Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005246[calcium channel regulator activity] GO:0005515[protein binding] GO:0016020[membrane] GO:0030176[integral component of endoplasmic reticulum membrane] GO:0032237[activation of store-operated calcium channel activity] GO:0046872[metal ion binding] GO:0051924[regulation of calcium ion transport]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Hematologic diseases Immune system diseases Primary immunodeficiency Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005246[calcium channel regulator activity] GO:0016020[membrane] GO:0030176[integral component of endoplasmic reticulum membrane] GO:0032237[activation of store-operated calcium channel activity] GO:0046872[metal ion binding] GO:0051924[regulation of calcium ion transport]
The Human Protein Atlas project is funded
