Version 5.4
Homo sapiens Gene: ITPR1
Summary
InnateDB Gene IDBG-14187.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ITPR1
Gene Name inositol 1,4,5-trisphosphate receptor, type 1
Synonyms ACV; CLA4; INSP3R1; IP3R; IP3R1; PPP1R94; SCA15; SCA16; SCA29
Species Homo sapiens
Ensembl Gene ENSG00000150995
Encoded Proteins
IDBP-14189
inositol 1,4,5-trisphosphate receptor, type 1
IDBP-14193
inositol 1,4,5-trisphosphate receptor, type 1
IDBP-14195
inositol 1,4,5-trisphosphate receptor, type 1
IDBP-360927
inositol 1,4,5-trisphosphate receptor, type 1
IDBP-360938
inositol 1,4,5-trisphosphate receptor, type 1
IDBP-597193
inositol 1,4,5-trisphosphate receptor, type 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
InnateDB Annotation
Summary
PMID 21239714
ITPR1 facilitates depletion of intracellular Ca(2+) for the internalization phase of FcgR-mediated phagocytosis.
InnateDB Annotation from Orthologs
Summary
PMID 21239714
[Mus musculus] Itpr1 facilitates depletion of intracellular Ca(2+) for the internalization phase of FcgR-mediated phagocytosis.
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:4493348-4847840
Strand Forward strand
Band p26.1
Transcripts
ENST00000357086 ENSP00000349597
ENST00000302640 ENSP00000306253
ENST00000354582 ENSP00000346595
ENST00000456211 ENSP00000397885
ENST00000443694 ENSP00000401671
ENST00000467056
ENST00000491868
ENST00000477577
ENST00000494681
ENST00000487016
ENST00000479831
ENST00000481415
ENST00000467545
ENST00000493491
ENST00000463980
ENST00000490572
ENST00000472205
ENST00000478515
ENST00000544951 ENSP00000440564
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 46 experimentally validated interaction(s) in this database.
They are also associated with 19 interaction(s) predicted by orthology.
Experimentally validated
Total 46 [view]
Protein-Protein 46 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 19 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005216 ion channel activity
GO:0005218 intracellular ligand-gated calcium channel activity
GO:0005220 inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity
GO:0005262 calcium channel activity
GO:0005515 protein binding
GO:0015085 calcium ion transmembrane transporter activity
GO:0035091 phosphatidylinositol binding
Biological Process
GO:0001666 response to hypoxia
GO:0006112 energy reserve metabolic process
GO:0006811 ion transport
GO:0006816 calcium ion transport
GO:0007165 signal transduction
GO:0007173 epidermal growth factor receptor signaling pathway
GO:0007202 activation of phospholipase C activity
GO:0007596 blood coagulation
GO:0008543 fibroblast growth factor receptor signaling pathway
GO:0009791 post-embryonic development
GO:0030168 platelet activation
GO:0032469 endoplasmic reticulum calcium ion homeostasis
GO:0034220 ion transmembrane transport
GO:0038095 Fc-epsilon receptor signaling pathway
GO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis
GO:0044281 small molecule metabolic process
GO:0045087 innate immune response (InnateDB)
GO:0048011 neurotrophin TRK receptor signaling pathway
GO:0048016 inositol phosphate-mediated signaling
GO:0050796 regulation of insulin secretion
GO:0050882 voluntary musculoskeletal movement
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
Cellular Component
GO:0005635 nuclear envelope
GO:0005637 nuclear inner membrane
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005955 calcineurin complex
GO:0014069 postsynaptic density
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016529 sarcoplasmic reticulum
GO:0031088 platelet dense granule membrane
GO:0031094 platelet dense tubular network
GO:0031095 platelet dense tubular network membrane
GO:0043234 protein complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000030102
View Gene Order
ENSBTAG00000020455
Not yet available
Pathways
NETPATH
NetPath_11
TCR pathway
NetPath_12
BCR pathway
REACTOME
REACT_111064
DAG and IP3 signaling pathway
REACT_147814
DAP12 signaling pathway
REACT_147694
DAP12 interactions pathway
REACT_160158
Role of phospholipids in phagocytosis pathway
REACT_118700
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers pathway
REACT_162
Elevation of cytosolic Ca2+ levels pathway
REACT_23767
cGMP effects pathway
REACT_23862
Nitric oxide stimulates guanylate cyclase pathway
REACT_23876
Platelet homeostasis pathway
REACT_2202
Effects of PIP2 hydrolysis pathway
REACT_12079
PLC-gamma1 signalling pathway
REACT_12478
EGFR interacts with phospholipase C-gamma pathway
REACT_9417
Signaling by EGFR pathway
REACT_18283
G alpha (q) signalling events pathway
REACT_120966
Gastrin-CREB signalling pathway via PKC and MAPK pathway
REACT_15426
PLC beta mediated events pathway
REACT_15295
Opioid Signalling pathway
REACT_115720
PLCG1 events in ERBB2 signaling pathway
REACT_115755
Signaling by ERBB2 pathway
REACT_21310
Phospholipase C-mediated cascade pathway
REACT_9470
Signaling by FGFR pathway
REACT_17025
Downstream signal transduction pathway
REACT_16888
Signaling by PDGF pathway
REACT_18274
Glucagon-like Peptide-1 (GLP1) regulates insulin secretion pathway
REACT_18325
Regulation of insulin secretion pathway
REACT_1505
Integration of energy metabolism pathway
REACT_120736
Signaling by FGFR in disease pathway
REACT_11061
Signalling by NGF pathway
REACT_115871
Signaling by EGFR in Cancer pathway
REACT_21272
Downstream signaling of activated FGFR pathway
REACT_172761
Ca2+ pathway pathway
REACT_172694
beta-catenin independent WNT signaling pathway
REACT_11045
Signaling by Wnt pathway
REACT_23905
Platelet calcium homeostasis pathway
REACT_12529
Signaling by VEGF pathway
REACT_14797
Signaling by GPCR pathway
REACT_6802
Innate Immune System pathway
REACT_798
Platelet activation, signaling and aggregation pathway
REACT_163936
Fc epsilon receptor (FCERI) signaling pathway
REACT_111102
Signal Transduction pathway
REACT_19184
GPCR downstream signaling pathway
REACT_15526
G-protein mediated events pathway
REACT_75774
Adaptive Immune System pathway
REACT_6900
Immune System pathway
REACT_228024
VEGFR2 mediated cell proliferation pathway
REACT_228166
VEGFA-VEGFR2 Pathway pathway
REACT_12056
NGF signalling via TRKA from the plasma membrane pathway
REACT_160123
Fcgamma receptor (FCGR) dependent phagocytosis pathway
REACT_111217
Metabolism pathway
REACT_163834
FCERI mediated Ca+2 mobilization pathway
REACT_118773
Signaling by the B Cell Receptor (BCR) pathway
REACT_116125
Disease pathway
REACT_604
Hemostasis pathway
KEGG
hsa04912
GnRH signaling pathway pathway
hsa04540
Gap junction pathway
hsa04720
Long-term potentiation pathway
hsa05010
Alzheimer's disease pathway
hsa04070
Phosphatidylinositol signaling system pathway
hsa04730
Long-term depression pathway
hsa04020
Calcium signaling pathway pathway
hsa04270
Vascular smooth muscle contraction pathway
hsa05016
Huntington's disease pathway
hsa04114
Oocyte meiosis pathway
hsa04971
Gastric acid secretion pathway
hsa04972
Pancreatic secretion pathway
hsa04970
Salivary secretion pathway
INOH
INOH website
CD4 T cell receptor signaling pathway
INOH website
B cell receptor signaling pathway
INOH website
VEGF signaling pathway pathway
INOH website
GPCR GroupI metabotropic glutamate receptor signaling pathway pathway
INOH website
GPCR signaling pathway
PID NCI
Cross-References
SwissProt
TrEMBL B7ZMI3
UniProt Splice Variant
Entrez Gene 3708
UniGene Hs.567295 Hs.736467
RefSeq NM_001099952 NM_001168272 NM_002222
HUGO HGNC:6180
OMIM 147265
CCDS CCDS46740 CCDS54550 CCDS54551
HPRD 00925
IMGT
EMBL AC018816 AC024168 AC069248 AC090944 BC144563
GenPept AAI44564
RNA Seq Atlas 3708

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca