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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
3
Cytoband
p26.1
Chromosome location (bp)
4493345 - 4847506
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Intracellular channel that mediates calcium release from the endoplasmic reticulum following stimulation by inositol 1,4,5-trisphosphate 1. Involved in the regulation of epithelial secretion of electrolytes and fluid through the interaction with AHCYL1 (By similarity). Plays a role in ER stress-induced apoptosis. Cytoplasmic calcium released from the ER triggers apoptosis by the activation of CaM kinase II, eventually leading to the activation of downstream apoptosis pathways (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Calcium channel, 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.
Apoptosis, 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 an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]...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.
Q14643 [Direct mapping] Inositol 1,4,5-trisphosphate receptor type 1
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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 7TM proteins predicted by MDM Plasma proteins Disease related genes Potential drug targets Human disease related genes Nervous system diseases Neurodegenerative 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:0001666[response to hypoxia] GO:0005216[ion channel activity] GO:0005220[inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity] GO:0005262[calcium channel activity] GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005886[plasma membrane] GO:0006811[ion transport] GO:0006816[calcium ion transport] GO:0006915[apoptotic process] GO:0007165[signal transduction] GO:0010506[regulation of autophagy] GO:0012505[endomembrane system] GO:0015085[calcium ion transmembrane transporter activity] GO:0015278[calcium-release channel activity] GO:0016020[membrane] GO:0016529[sarcoplasmic reticulum] GO:0019855[calcium channel inhibitor activity] GO:0030658[transport vesicle membrane] GO:0030659[cytoplasmic vesicle membrane] GO:0030667[secretory granule membrane] GO:0031088[platelet dense granule membrane] GO:0031094[platelet dense tubular network] GO:0031095[platelet dense tubular network membrane] GO:0031410[cytoplasmic vesicle] GO:0035091[phosphatidylinositol binding] GO:0043231[intracellular membrane-bounded organelle] GO:0048016[inositol phosphate-mediated signaling] GO:0048471[perinuclear region of cytoplasm] GO:0050849[negative regulation of calcium-mediated signaling] GO:0051209[release of sequestered calcium ion into cytosol] GO:0055085[transmembrane transport] GO:0070059[intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress] GO:0070588[calcium ion transmembrane transport] GO:0070679[inositol 1,4,5 trisphosphate binding] GO:0099566[regulation of postsynaptic cytosolic calcium ion concentration]
Q14643 [Direct mapping] Inositol 1,4,5-trisphosphate receptor type 1
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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 7TM proteins predicted by MDM Plasma proteins Disease related genes Potential drug targets Human disease related genes Nervous system diseases Neurodegenerative 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:0001666[response to hypoxia] GO:0005216[ion channel activity] GO:0005220[inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity] GO:0005262[calcium channel activity] GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005886[plasma membrane] GO:0006811[ion transport] GO:0006816[calcium ion transport] GO:0006915[apoptotic process] GO:0007165[signal transduction] GO:0010506[regulation of autophagy] GO:0012505[endomembrane system] GO:0015085[calcium ion transmembrane transporter activity] GO:0015278[calcium-release channel activity] GO:0016020[membrane] GO:0016529[sarcoplasmic reticulum] GO:0019855[calcium channel inhibitor activity] GO:0030658[transport vesicle membrane] GO:0030659[cytoplasmic vesicle membrane] GO:0030667[secretory granule membrane] GO:0031088[platelet dense granule membrane] GO:0031094[platelet dense tubular network] GO:0031095[platelet dense tubular network membrane] GO:0031410[cytoplasmic vesicle] GO:0035091[phosphatidylinositol binding] GO:0043231[intracellular membrane-bounded organelle] GO:0048016[inositol phosphate-mediated signaling] GO:0048471[perinuclear region of cytoplasm] GO:0050849[negative regulation of calcium-mediated signaling] GO:0051209[release of sequestered calcium ion into cytosol] GO:0055085[transmembrane transport] GO:0070059[intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress] GO:0070588[calcium ion transmembrane transport] GO:0070679[inositol 1,4,5 trisphosphate binding] GO:0099566[regulation of postsynaptic cytosolic calcium ion concentration]
Q14643 [Direct mapping] Inositol 1,4,5-trisphosphate receptor type 1
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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 7TM proteins predicted by MDM Plasma proteins Disease related genes Potential drug targets Human disease related genes Nervous system diseases Neurodegenerative 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:0001666[response to hypoxia] GO:0005216[ion channel activity] GO:0005220[inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity] GO:0005262[calcium channel activity] GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005886[plasma membrane] GO:0006811[ion transport] GO:0006816[calcium ion transport] GO:0006915[apoptotic process] GO:0007165[signal transduction] GO:0010506[regulation of autophagy] GO:0012505[endomembrane system] GO:0015085[calcium ion transmembrane transporter activity] GO:0015278[calcium-release channel activity] GO:0016020[membrane] GO:0016529[sarcoplasmic reticulum] GO:0019855[calcium channel inhibitor activity] GO:0030658[transport vesicle membrane] GO:0030659[cytoplasmic vesicle membrane] GO:0030667[secretory granule membrane] GO:0031088[platelet dense granule membrane] GO:0031094[platelet dense tubular network] GO:0031095[platelet dense tubular network membrane] GO:0031410[cytoplasmic vesicle] GO:0035091[phosphatidylinositol binding] GO:0043231[intracellular membrane-bounded organelle] GO:0048016[inositol phosphate-mediated signaling] GO:0048471[perinuclear region of cytoplasm] GO:0050849[negative regulation of calcium-mediated signaling] GO:0051209[release of sequestered calcium ion into cytosol] GO:0055085[transmembrane transport] GO:0070059[intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress] GO:0070588[calcium ion transmembrane transport] GO:0070679[inositol 1,4,5 trisphosphate binding] GO:0099566[regulation of postsynaptic cytosolic calcium ion concentration]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
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GO:0005220[inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity] GO:0005262[calcium channel activity] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0006811[ion transport] GO:0006816[calcium ion transport] GO:0016020[membrane] GO:0048016[inositol phosphate-mediated signaling] GO:0051209[release of sequestered calcium ion into cytosol] GO:0055085[transmembrane transport] GO:0070588[calcium ion transmembrane transport] GO:0070679[inositol 1,4,5 trisphosphate binding]
A0A3B3ISR4 [Direct mapping] Inositol 1,4,5-trisphosphate receptor type 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
A0A3B3ISE3 [Direct mapping] Inositol 1,4,5-trisphosphate receptor type 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
A0A3B3IS59 [Direct mapping] Inositol 1,4,5-trisphosphate receptor type 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)