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Gene Ontology Classifications
Symbol
Name
ID
Itpr1
inositol 1,4,5-trisphosphate receptor 1
MGI:96623

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Itpr1. (This text reflects annotations as of Thursday, July 24, 2014.)
Summary from NCBI RefSeq


[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
References
  1. Cardenas C et al. (2005) Nuclear inositol 1,4,5-trisphosphate receptors regulate local Ca2+ transients and modulate cAMP response element binding protein phosphorylation. J Cell Sci, 118:3131-40. (PubMed:16014380)
  2. Erin N et al. (2003) Calcium-dependent interaction of calcineurin with Bcl-2 in neuronal tissue. Neuroscience, 117:541-55. (PubMed:12617961)
  3. Fissore RA et al. (1999) Differential distribution of inositol trisphosphate receptor isoforms in mouse oocytes. Biol Reprod, 60:49-57. (PubMed:9858485)
  4. Geiselhoringer A et al. (2004) IRAG is essential for relaxation of receptor-triggered smooth muscle contraction by cGMP kinase. EMBO J, 23:4222-31. (PubMed:15483626)
  5. Higo T et al. (2005) Subtype-specific and ER lumenal environment-dependent regulation of inositol 1,4,5-trisphosphate receptor type 1 by ERp44. Cell, 120:85-98. (PubMed:15652484)
  6. Hirota J et al. (2003) Carbonic anhydrase-related protein is a novel binding protein for inositol 1,4,5-trisphosphate receptor type 1. Biochem J, 372:435-41. (PubMed:12611586)
  7. Iwai M et al. (2007) Molecular basis of the isoform-specific ligand-binding affinity of inositol 1,4,5-trisphosphate receptors. J Biol Chem, 282:12755-64. (PubMed:17327232)
  8. Jurkovicova D et al. (2008) Hypoxia differently modulates gene expression of inositol 1,4,5-trisphosphate receptors in mouse kidney and HEK 293 cell line. Ann N Y Acad Sci, 1148:421-7. (PubMed:19120137)
  9. Li G et al. (2009) Role of ERO1-alpha-mediated stimulation of inositol 1,4,5-triphosphate receptor activity in endoplasmic reticulum stress-induced apoptosis. J Cell Biol, 186:783-92. (PubMed:19752026)
  10. Murata T et al. (2007) Genetic evidence supporting caveolae microdomain regulation of calcium entry in endothelial cells. J Biol Chem, 282:16631-43. (PubMed:17416589)
  11. Nakamura M et al. (2004) Signaling complex formation of phospholipase Cbeta4 with metabotropic glutamate receptor type 1alpha and 1,4,5-trisphosphate receptor at the perisynapse and endoplasmic reticulum in the mouse brain. Eur J Neurosci, 20:2929-44. (PubMed:15579147)
  12. Oakes SA et al. (2005) Proapoptotic BAX and BAK regulate the type 1 inositol trisphosphate receptor and calcium leak from the endoplasmic reticulum. Proc Natl Acad Sci U S A, 102:105-10. (PubMed:15613488)
  13. van de Leemput J et al. (2007) Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans. PLoS Genet, 3:e108. (PubMed:17590087)
  14. Vannier B et al. (1999) Mouse trp2, the homologue of the human trpc2 pseudogene, encodes mTrp2, a store depletion-activated capacitative Ca2+ entry channel. Proc Natl Acad Sci U S A, 96:2060-4. (PubMed:10051594)
  15. Yamazaki H et al. (2010) Tyr-167/Trp-168 in type 1/3 inositol 1,4,5-trisphosphate receptor mediates functional coupling between ligand binding and channel opening. J Biol Chem, 285:36081-91. (PubMed:20813840)
  16. Yoshikawa F et al. (1996) Mutational analysis of the ligand binding site of the inositol 1,4,5-trisphosphate receptor. J Biol Chem, 271:18277-84. (PubMed:8663526)
  17. Zhang S et al. (2003) Protein 4.1N is required for translocation of inositol 1,4,5-trisphosphate receptor type 1 to the basolateral membrane domain in polarized Madin-Darby canine kidney cells. J Biol Chem, 278:4048-56. (PubMed:12444087)



Go Annotations in Tabular Form (Text View) (GO Graph)

 
 


Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IMP Inferred from mutant phenotype
  IPI Inferred from physical interaction
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
10/08/2014
MGI 5.20
The Jackson Laboratory