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    ITPR1 inositol 1,4,5-trisphosphate receptor, type 1 [ Homo sapiens ]

    Gene ID: 3708, updated on 19-May-2012

    Summary

    Official Symbol
    ITPR1provided by HGNC
    Official Full Name
    inositol 1,4,5-trisphosphate receptor, type 1provided by HGNC
    Primary source
    HGNC:6180
    See related
    Ensembl:ENSG00000150995; HPRD:00925; MIM:147265; Vega:OTTHUMG00000154996
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IP3R; IP3R1; SCA15; SCA16; INSP3R1; DKFZp313E1334; DKFZp313N1434
    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]

    Genomic context

    Location :
    3p26.1
    Sequence :
    Chromosome: 3; NC_000003.11 (4535032..4889524)
    See ITPR1 in Epigenomics, MapViewer

    Chromosome 3 - NC_000003.11Genomic Context describing neighboring genes Neighboring gene SET domain and mariner transposase fusion gene Neighboring gene sulfatase modifying factor 1 Neighboring gene mitochondrial ribosomal protein S10 pseudogene 2 Neighboring gene eosinophil granule ontogeny transcript (non-protein coding) Neighboring gene uncharacterized LOC100507582 Neighboring gene basic helix-loop-helix family, member e40

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Phenotypes

    Spinocerebellar ataxia 16

    Summary from GeneReviews: Go to GeneReviews

    Disease Characteristics
    Spinocerebellar ataxia type 15 (SCA15) is characterized by slowly progressive gait and limb ataxia, often in combination with ataxic dysarthria, titubation, upper limb postural tremor, mild hyperreflexia, gaze-evoked nystagmus, and impaired vestibulo-ocular reflex gain. Onset is between ages seven and 66 years, usually with gait ataxia but sometimes with tremor. Affected individuals remain ambulant for ten to 54 years after onset. Mild dysphagia and movement-induced oscillopsia after several decades of symptoms have been observed in members of two of the seven families known to have SCA15.
    Diagnosis Testing
    The diagnosis of SCA15 should be considered in individuals in whom the diagnoses of SCA5, 6, 8, 12, and 14 (and 11 and 27 if available) have been excluded by molecular genetic testing and who fulfill the clinical diagnostic criteria for SCA15. Molecular genetic testing of ITPR1, the only gene known to be associated with SCA15, is available. Neuroimaging reveals atrophy of the rostral and dorsal vermis of the cerebellum with mild atrophy of the cerebellar hemispheres.
    Genetic Counseling
    SCA15 is inherited in an autosomal dominant manner. If a parent of the proband is affected, the risk to each sib is 50%. No laboratories offering molecular genetic testing for prenatal diagnosis of SCA15 are listed in the GeneTests Laboratory Directory; however, prenatal testing may be possible through a laboratory offering custom prenatal testing if the disease-causing mutation has been identified in a family.
    References

    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    Nef nef HIV-1 Nef interacts with inositol 1,4,5-triphosphate receptor (IP3R) to trigger the activation of plasma membrane calcium influx channels PubMed
    Tat tat HIV-1 Tat induces release of calcium from inositol 1,4,5-triphosphate receptor-regulated stores in neurons and astrocytes, an effect that plays an important role in Tat-induced TNF-alpha production PubMed

    Go to the HIV-1, Human Protein Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_002213.1 NP_821074.1 STARD13    BIND  PubMed STARD13 (RhoGAP) interacts with ITPR1. 
    Q14643 O43865 AHCYL1    HPRD  PubMed  
    Q14643 Q07960 ARHGAP1    HPRD  PubMed  
    Q14643 Q8NDB2 BANK1    HPRD  PubMed  
    Q14643 P10415 BCL2    HPRD  PubMed  
    Q14643 P35219 CA8    HPRD  PubMed  
    Q14643 Q9NZU7 CABP1    HPRD  PubMed  
    Q14643 P14635 CCNB1    HPRD  PubMed  
    Q14643 P06493 CDK1    HPRD  PubMed  
    Q14643 Q9H4G0 EPB41L1    HPRD  PubMed  
    Q14643 Q9BS26 ERP44    HPRD  PubMed  
    Q14643 P62942 FKBP1A    HPRD  PubMed  
    Q14643 P06241 FYN    HPRD  PubMed  
    Q14643 Q13255 GRM1    HPRD  PubMed  
    Q14643 Q86YM7 HOMER1    HPRD  PubMed  
    Q14643 Q9NSB8 HOMER2    HPRD  PubMed  
    Q14643 Q9NSC5 HOMER3    HPRD  PubMed  
    Q14643 Q14573 ITPR3    HPRD  PubMed  
    Q14643 KIAA1754 ITPRIP    HPRD  PubMed  
    Q14643 P07948 LYN    HPRD  PubMed  
    Q14643 MRVI1 MRVI1    HPRD  PubMed  
    Q14643 P17612 PRKACA    HPRD  PubMed  
    Q14643 P14619 PRKG1    HPRD  PubMed  
    Q14643 P61586 RHOA    HPRD  PubMed  
    Q14643 Q92736 RYR2    HPRD  PubMed  
    Q14643 Q9Y3M8 STARD13    HPRD  PubMed  
    Q14643 Q13507 TRPC3    HPRD  PubMed  
    Q14643 Q9UBN4 TRPC4    HPRD  PubMed  
    BioGRID:109913 BioGRID:115987 AHCYL1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109913 BioGRID:120354 BANK1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109913 BioGRID:107068 BCL2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109913 BioGRID:107222 CA8    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:109913 BioGRID:114863 CABP1    BioGRID  PubMed Affinity Capture-Western; Co-fractionation; Reconstituted Complex 
    BioGRID:109913 BioGRID:108350 EPB41L1    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:109913 BioGRID:115859 ERLIN1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109913 BioGRID:116331 ERLIN2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109913 BioGRID:108570 FKBP1A    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:109913 BioGRID:248180 Homer1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109913 BioGRID:248181 Homer2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109913 BioGRID:109915 ITPR3    BioGRID  PubMed Co-fractionation 
    BioGRID:109913 BioGRID:115617 MRVI1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109913 BioGRID:111578 PRKG1    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:109913 BioGRID:106880 RHOA    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109913 BioGRID:112285 SDC2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109913 BioGRID:124744 STARD13    BioGRID  PubMed Two-hybrid 
    BioGRID:109913 BioGRID:113071 TRPC1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109913 BioGRID:113072 TRPC2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109913 BioGRID:113073 TRPC3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109913 BioGRID:113074 TRPC4    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:109913 BioGRID:113075 TRPC5    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109913 BioGRID:113076 TRPC6    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109913 BioGRID:204277 Top2b    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109913 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:109913 BioGRID:113258 VCP    BioGRID  PubMed Affinity Capture-Western 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • Alzheimer's disease, organism-specific biosystem (from KEGG)
      Alzheimer's disease, organism-specific biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Alzheimer's disease, conserved biosystem (from KEGG)
      Alzheimer's disease, conserved biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Antigen Activates B Cell Receptor Leading to Generation of Second Messengers, organism-specific biosystem (from REACTOME)
      Antigen Activates B Cell Receptor Leading to Generation of Second Messengers, organism-specific biosystemMature B cells express IgM and IgD immunoglobulins which are complexed with Ig-alpha (CD79A, MB-1) and Ig-beta (CD79B, B29) to form the B cell receptor (BCR) (Fu et al. 1974, Fu et al. 1975, Kunkel e...
    • B Cell Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
      B Cell Receptor Signaling Pathway, organism-specific biosystemThe B cell receptor includes membrane ?? heavy chain molecules bound to a light chain and an Ig alpha (CD79A)/Ig beta (CD79B) heterodimer. Activation of the B cell receptor involves phosphorylation o...
    • Calcium Regulation in the Cardiac Cell, organism-specific biosystem (from WikiPathways)
      Calcium Regulation in the Cardiac Cell, organism-specific biosystemCalcium is a common signaling mechanism, as once it enters the cytoplasm it exerts allosteric regulatory affects on many enzymes and proteins. Calcium can act in signal transduction after influx resu...
    • Calcium signaling pathway, organism-specific biosystem (from KEGG)
      Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Calcium signaling pathway, conserved biosystem (from KEGG)
      Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Cholinergic synapse, organism-specific biosystem (from KEGG)
      Cholinergic synapse, organism-specific biosystemAcetylcholine (ACh) is a neurotransmitter widely distributed in the central (and also peripheral, autonomic and enteric) nervous system (CNS). In the CNS, ACh facilitates many functions, such as lear...
    • DAG and IP3 signaling, organism-specific biosystem (from REACTOME)
      DAG and IP3 signaling, organism-specific biosystemThis pathway describes the generation of DAG and IP3 by the PLCgamma-mediated hydrolysis of PIP2 and the subsequent downstream signaling events.
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Dopaminergic synapse, organism-specific biosystem (from KEGG)
      Dopaminergic synapse, organism-specific biosystemDopamine (DA) is an important and prototypical slow neurotransmitter in the mammalian brain, where it controls a variety of functions including locomotor activity, motivation and reward, learning an...
    • Dopaminergic synapse, conserved biosystem (from KEGG)
      Dopaminergic synapse, conserved biosystemDopamine (DA) is an important and prototypical slow neurotransmitter in the mammalian brain, where it controls a variety of functions including locomotor activity, motivation and reward, learning an...
    • Downstream signal transduction, organism-specific biosystem (from REACTOME)
      Downstream signal transduction, organism-specific biosystemThe role of autophosphorylation sites on PDGF receptors are to provide docking sites for downstream signal transduction molecules which contain SH2 domains. The SH2 domain is a conserved motif of aro...
    • Downstream signaling of activated FGFR, organism-specific biosystem (from REACTOME)
      Downstream signaling of activated FGFR, organism-specific biosystemSignaling via FGFRs is mediated via direct recruitment of signaling proteins that bind to tyrosine auto-phosphorylation sites on the activated receptor and via closely linked docking proteins that be...
    • EGFR interacts with phospholipase C-gamma, organism-specific biosystem (from REACTOME)
      EGFR interacts with phospholipase C-gamma, organism-specific biosystemActivated epidermal growth factor receptors (EGFR) can stimulate phosphatidylinositol (PI) turnover. Activated EGFR can activate phospholipase C-gamma1 (PLC-gamma1, i.e. PLCG1) which hydrolyses phosp...
    • Effects of PIP2 hydrolysis, organism-specific biosystem (from REACTOME)
      Effects of PIP2 hydrolysis, organism-specific biosystemHydrolysis of phosphatidyl inositol-bisphosphate (PIP2) by phospholipase C (PLC) produces diacylglycerol (DAG) and inositol triphosphate (IP3). Both are potent second messengers. IP3 diffuses into th...
    • Elevation of cytosolic Ca2+ levels, organism-specific biosystem (from REACTOME)
      Elevation of cytosolic Ca2+ levels, organism-specific biosystemActivation of non- excitable cells involves the agonist-induced elevation of cytosolic Ca2+, an essential process for platelet activation. It occurs through Ca2+ release from intracellular stores and...
    • G Protein Signaling Pathways, organism-specific biosystem (from WikiPathways)
      G Protein Signaling Pathways, organism-specific biosystemG proteins, short for guanine nucleotide-binding proteins, are a family of proteins involved in second messenger cascades. G proteins are so called because they function as "molecular switches". They...
    • G alpha (q) signalling events, organism-specific biosystem (from REACTOME)
      G alpha (q) signalling events, organism-specific biosystemThe classic signalling route for G alpha (q) is activation of phospholipase C beta thereby triggering phosphoinositide hydrolysis, calcium mobilization and protein kinase C activation. This provides ...
    • G-protein mediated events, organism-specific biosystem (from REACTOME)
      G-protein mediated events, organism-specific biosystemWhen dissociated Galpha-GTP and Gbeta-gamma can activate or inhibit different signalling cascades and effector proteins. The precise pathways depends on the identity of the alpha and beta/gamma subty...
    • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
      GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
    • Gap junction, organism-specific biosystem (from KEGG)
      Gap junction, organism-specific biosystemGap junctions contain intercellular channels that allow direct communication between the cytosolic compartments of adjacent cells. Each gap junction channel is formed by docking of two 'hemichannels'...
    • Gap junction, conserved biosystem (from KEGG)
      Gap junction, conserved biosystemGap junctions contain intercellular channels that allow direct communication between the cytosolic compartments of adjacent cells. Each gap junction channel is formed by docking of two 'hemichannels'...
    • Gastric acid secretion, organism-specific biosystem (from KEGG)
      Gastric acid secretion, organism-specific biosystemGastric acid is a key factor in normal upper gastrointestinal functions, including protein digestion and calcium and iron absorption, as well as providing some protection against bacterial infections...
    • Gastric acid secretion, conserved biosystem (from KEGG)
      Gastric acid secretion, conserved biosystemGastric acid is a key factor in normal upper gastrointestinal functions, including protein digestion and calcium and iron absorption, as well as providing some protection against bacterial infections...
    • Glutamatergic synapse, organism-specific biosystem (from KEGG)
      Glutamatergic synapse, organism-specific biosystemGlutamate is the major excitatory neurotransmitter in the mammalian central nervous system(CNS). Glutamate is packaged into synaptic vesicles in the presynaptic terminal. Once released into the synap...
    • Glutamatergic synapse, conserved biosystem (from KEGG)
      Glutamatergic synapse, conserved biosystemGlutamate is the major excitatory neurotransmitter in the mammalian central nervous system(CNS). Glutamate is packaged into synaptic vesicles in the presynaptic terminal. Once released into the synap...
    • GnRH signaling pathway, organism-specific biosystem (from KEGG)
      GnRH signaling pathway, organism-specific biosystemGonadotropin-releasing hormone (GnRH) secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, LH and FSH. The GnR...
    • GnRH signaling pathway, conserved biosystem (from KEGG)
      GnRH signaling pathway, conserved biosystemGonadotropin-releasing hormone (GnRH) secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, LH and FSH. The GnR...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Huntington's disease, organism-specific biosystem (from KEGG)
      Huntington's disease, organism-specific biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
    • Huntington's disease, conserved biosystem (from KEGG)
      Huntington's disease, conserved biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Integration of energy metabolism, organism-specific biosystem (from REACTOME)
      Integration of energy metabolism, organism-specific biosystemMany hormones that affect individual physiological processes including the regulation of appetite, absorption, transport, and oxidation of foodstuffs influence energy metabolism pathways. While insul...
    • Long-term depression, organism-specific biosystem (from KEGG)
      Long-term depression, organism-specific biosystemCerebellar long-term depression (LTD), thought to be a molecular and cellular basis for cerebellar learning, is a process involving a decrease in the synaptic strength between parallel fiber (PF) and...
    • Long-term depression, conserved biosystem (from KEGG)
      Long-term depression, conserved biosystemCerebellar long-term depression (LTD), thought to be a molecular and cellular basis for cerebellar learning, is a process involving a decrease in the synaptic strength between parallel fiber (PF) and...
    • Long-term potentiation, organism-specific biosystem (from KEGG)
      Long-term potentiation, organism-specific biosystemHippocampal long-term potentiation (LTP), a long-lasting increase in synaptic efficacy, is the molecular basis for learning and memory. Tetanic stimulation of afferents in the CA1 region of the hippo...
    • Long-term potentiation, conserved biosystem (from KEGG)
      Long-term potentiation, conserved biosystemHippocampal long-term potentiation (LTP), a long-lasting increase in synaptic efficacy, is the molecular basis for learning and memory. Tetanic stimulation of afferents in the CA1 region of the hippo...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Myometrial Relaxation and Contraction Pathways, organism-specific biosystem (from WikiPathways)
      Myometrial Relaxation and Contraction Pathways, organism-specific biosystemThis pathway illustrates signaling networks implicated in uterine muscle contraction at labor and quiescence throughout gestation (pregnancy). The muscle of the uterus, responsible for contractile ac...
    • NGF signalling via TRKA from the plasma membrane, organism-specific biosystem (from REACTOME)
      NGF signalling via TRKA from the plasma membrane, organism-specific biosystemTrk receptors signal from the plasma membrane and from intracellular membranes, particularly from early endosomes. Signalling from the plasma membrane is fast but transient; signalling from endosomes...
    • Nitric oxide stimulates guanylate cyclase, organism-specific biosystem (from REACTOME)
      Nitric oxide stimulates guanylate cyclase, organism-specific biosystemNitric Oxide (NO) inhibits smooth muscle cell proliferation and migration, oxidation of low-density lipoproteins, and platelet aggregation and adhesion. It can stimulate vasodilatation of the endothe...
    • Oocyte meiosis, organism-specific biosystem (from KEGG)
      Oocyte meiosis, organism-specific biosystemDuring meiosis, a single round of DNA replication is followed by two rounds of chromosome segregation, called meiosis I and meiosis II. At meiosis I, homologous chromosomes recombine and then segrega...
    • Oocyte meiosis, conserved biosystem (from KEGG)
      Oocyte meiosis, conserved biosystemDuring meiosis, a single round of DNA replication is followed by two rounds of chromosome segregation, called meiosis I and meiosis II. At meiosis I, homologous chromosomes recombine and then segrega...
    • Opioid Signalling, organism-specific biosystem (from REACTOME)
      Opioid Signalling, organism-specific biosystemOpioids are chemical substances similar to opiates, the active substances found in opium (morphine, codeine etc.). Opioid action is mediated by the receptors for endogenous opioids; peptides such as...
    • PLC beta mediated events, organism-specific biosystem (from REACTOME)
      PLC beta mediated events, organism-specific biosystemThe phospholipase C (PLC) family of enzymes is both diverse and complex. The isoforms beta, gamma and delta (each have subtypes) make up the members of this family. PLC hydrolyzes phosphatidylinosito...
    • PLC-gamma1 signalling, organism-specific biosystem (from REACTOME)
      PLC-gamma1 signalling, organism-specific biosystemThe activation of phosphlipase C-gamma (PLC-gamma) and subsequent mobilization of calcium from intracellular stores are essential for neurotrophin secretion. PLC-gamma is activated through the phosph...
    • PLCG1 events in ERBB2 signaling, organism-specific biosystem (from REACTOME)
      PLCG1 events in ERBB2 signaling, organism-specific biosystemActivation of PLCG1 signaling is observed only in the presence of ERBB2:EGFR heterodimers, with PLCG1 binding to phosphorylated tyrosine Y992 and Y1173 in the C-tail of EGFR (Chattopadhyay et al. 199...
    • Pancreatic secretion, organism-specific biosystem (from KEGG)
      Pancreatic secretion, organism-specific biosystemThe pancreas performs both exocrine and endocrine functions. The exocrine pancreas consists of two parts, the acinar and duct cells. The primary functions of pancreatic acinar cells are to synthesiz...
    • Pancreatic secretion, conserved biosystem (from KEGG)
      Pancreatic secretion, conserved biosystemThe pancreas performs both exocrine and endocrine functions. The exocrine pancreas consists of two parts, the acinar and duct cells. The primary functions of pancreatic acinar cells are to synthesiz...
    • Phosphatidylinositol signaling system, organism-specific biosystem (from KEGG)
      Phosphatidylinositol signaling system, organism-specific biosystem
      Phosphatidylinositol signaling system
    • Phosphatidylinositol signaling system, conserved biosystem (from KEGG)
      Phosphatidylinositol signaling system, conserved biosystem
      Phosphatidylinositol signaling system
    • Phospholipase C-mediated cascade, organism-specific biosystem (from REACTOME)
      Phospholipase C-mediated cascade, organism-specific biosystemPhospholipase C-gamma (PLC-gamma) is a substrate of the fibroblast growth factor receptor (FGFR) and other receptors with tyrosine kinase activity. It is known that the src homology region 2 (SH2 dom...
    • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
      Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
    • Platelet calcium homeostasis, organism-specific biosystem (from REACTOME)
      Platelet calcium homeostasis, organism-specific biosystemCa2+ homeostasis is controlled by processes that elevate or counter the elevation of cytosolic Ca2+. During steady state conditions, cytoplasmic Ca2+ is reduced by the accumulation of Ca2+ in intrac...
    • Platelet homeostasis, organism-specific biosystem (from REACTOME)
      Platelet homeostasis, organism-specific biosystemUnder normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhesion and activation, suppresses coagulation, enhances fibrin cleavage and is anti-inflammatory in charact...
    • Regulation of Insulin Secretion, organism-specific biosystem (from REACTOME)
      Regulation of Insulin Secretion, organism-specific biosystemPancreatic beta cells integrate signals from several metabolites and hormones to control the secretion of insulin. In general, glucose triggers insulin secretion while other factors can amplify or in...
    • Regulation of Insulin Secretion by Glucagon-like Peptide-1, organism-specific biosystem (from REACTOME)
      Regulation of Insulin Secretion by Glucagon-like Peptide-1, organism-specific biosystemGlucagon-like Peptide-1 (GLP-1) is secreted by L-cells in the intestine in response to glucose and fatty acids. GLP-1 circulates to the beta cells of the pancreas where it binds a G-protein coupled r...
    • Retrograde endocannabinoid signaling, organism-specific biosystem (from KEGG)
      Retrograde endocannabinoid signaling, organism-specific biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
    • Retrograde endocannabinoid signaling, conserved biosystem (from KEGG)
      Retrograde endocannabinoid signaling, conserved biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
    • Salivary secretion, organism-specific biosystem (from KEGG)
      Salivary secretion, organism-specific biosystemSaliva has manifold functions in maintaining the integrity of the oral tissues, in protecting teeth from caries, in the tasting and ingestion of food, in speech and in the tolerance of tenures, for e...
    • Salivary secretion, conserved biosystem (from KEGG)
      Salivary secretion, conserved biosystemSaliva has manifold functions in maintaining the integrity of the oral tissues, in protecting teeth from caries, in the tasting and ingestion of food, in speech and in the tolerance of tenures, for e...
    • Serotonergic synapse, organism-specific biosystem (from KEGG)
      Serotonergic synapse, organism-specific biosystemSerotonin (5-Hydroxytryptamine, 5-HT) is a monoamine neurotransmitter that plays important roles in physiological functions such as learning and memory, emotion, sleep, pain, motor function and endoc...
    • Serotonin Receptor 2 and ELK-SRF/GATA4 signaling, organism-specific biosystem (from WikiPathways)
      Serotonin Receptor 2 and ELK-SRF/GATA4 signaling, organism-specific biosystemThis pathway is courtesy of Ariadne Genomics Pathway Studio.
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by EGFR, organism-specific biosystem (from REACTOME)
      Signaling by EGFR, organism-specific biosystemThe epidermal growth factor receptor (EGFR) is one member of the ERBB family of transmembrane glycoprotein tyrosine receptor kinases (RTK). Binding of EGFR to its ligands induces conformational chang...
    • Signaling by EGFR in Cancer, organism-specific biosystem (from REACTOME)
      Signaling by EGFR in Cancer, organism-specific biosystemThe pathway "Signaling by EGFR in Cancer" shows "Signaling by constitutively active EGFR" in parallel with "Signaling by EGFR". This allows users to compare signaling by constitutively active EGFR ca...
    • Signaling by ERBB2, organism-specific biosystem (from REACTOME)
      Signaling by ERBB2, organism-specific biosystemERBB2, also known as HER2 or NEU, is a receptor tyrosine kinase (RTK) belonging to the EGFR family. ERBB2 possesses an extracellular domain that does not bind any known ligand, contrary to other EGFR...
    • Signaling by FGFR, organism-specific biosystem (from REACTOME)
      Signaling by FGFR, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
      Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
    • Signaling by PDGF, organism-specific biosystem (from REACTOME)
      Signaling by PDGF, organism-specific biosystemPlatelet-derived Growth Factor (PDGF) is a potent stimulator of growth and motility of connective tissue cells such as fibroblasts and smooth muscle cells as well as other cells such as capillary end...
    • Signaling by the B Cell Receptor (BCR), organism-specific biosystem (from REACTOME)
      Signaling by the B Cell Receptor (BCR), organism-specific biosystemMature B cells express IgM and IgD immunoglobulins which are complexed at the plasma membrane with Ig-alpha (CD79A, MB-1) and Ig-beta (CD79B, B29) to form the B cell receptor (BCR) (Fu et al. 1974, F...
    • Signalling by NGF, organism-specific biosystem (from REACTOME)
      Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
    • T Cell Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
      T Cell Receptor Signaling Pathway, organism-specific biosystem
      T Cell Receptor Signaling Pathway
    • Vascular smooth muscle contraction, organism-specific biosystem (from KEGG)
      Vascular smooth muscle contraction, organism-specific biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...
    • Vascular smooth muscle contraction, conserved biosystem (from KEGG)
      Vascular smooth muscle contraction, conserved biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...
    • cGMP effects, organism-specific biosystem (from REACTOME)
      cGMP effects, organism-specific biosystemCyclic guanosine monophosphate (cGMP) is an important secondary messenger synthesized by guanylate cyclases. cGMP has effects on phosphodiesterases (PDE), ion-gated channels, and the cGMP-dependent p...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    calcium ion transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity TAS
    Traceable Author Statement
    more info
    PubMed 
    intracellular ligand-gated calcium channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ion channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylinositol binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
     
    receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    activation of phospholipase C activity TAS
    Traceable Author Statement
    more info
     
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    calcium ion transmembrane transport TAS
    Traceable Author Statement
    more info
    PubMed 
    calcium ion transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cell death IEA
    Inferred from Electronic Annotation
    more info
     
    energy reserve metabolic process TAS
    Traceable Author Statement
    more info
     
    epidermal growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    fibroblast growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    inositol phosphate-mediated signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    inositol phosphate-mediated signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    nerve growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    platelet activation TAS
    Traceable Author Statement
    more info
     
    regulation of insulin secretion TAS
    Traceable Author Statement
    more info
     
    response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    signal transduction TAS
    Traceable Author Statement
    more info
     
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
     
    transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum NAS
    Non-traceable Author Statement
    more info
    PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    platelet dense granule membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    platelet dense tubular network IDA
    Inferred from Direct Assay
    more info
    PubMed 
    platelet dense tubular network membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    inositol 1,4,5-trisphosphate receptor type 1
    Names
    inositol 1,4,5-trisphosphate receptor type 1
    IP3R 1
    IP3 receptor
    type 1 InsP3 receptor
    inositol 1,4,5-triphosphate receptor, type 1
    type 1 inositol 1,4,5-trisphosphate receptor

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016144.1 RefSeqGene

      Range
      5001..359493
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001099952.2NP_001093422.2  inositol 1,4,5-trisphosphate receptor type 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AB208868, AK293752, AK309981, AW501800, BG202086, BM695661, BQ006717, DA060305, DB260851, L38019
      Consensus CDS
      CCDS46740.2
      UniProtKB/TrEMBL
      B4DER3
      UniProtKB/Swiss-Prot
      Q14643
      UniProtKB/TrEMBL
      Q59H91
      Related
      ENSP00000349597, OTTHUMP00000207084, ENST00000357086, OTTHUMT00000337979
      Conserved Domains (6) summary
      pfam08454
      Location:19232035
      Blast Score: 371
      RIH_assoc; RyR and IP3R Homology associated
      smart00472
      Location:231287
      Blast Score: 108
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      pfam00520
      Location:23202549
      Blast Score: 120
      Ion_trans; Ion transport protein
      pfam01365
      Location:472677
      Blast Score: 647
      RYDR_ITPR; RIH domain
      pfam02815
      Location:232433
      Blast Score: 639
      MIR; MIR domain
      pfam08709
      Location:4225
      Blast Score: 890
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
    2. NM_001168272.1NP_001161744.1  inositol 1,4,5-trisphosphate receptor type 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon, uses an alternate in-frame splice site and includes three additional exons in the central coding region, compared to variant 1, resulting in an isoform (3) that is longer than isoform 1.
      Source sequence(s)
      AB208868, AK293752, AK294594, BG202086, BQ006717, DA060305, DB260851, U23850
      Consensus CDS
      CCDS54551.1
      UniProtKB/TrEMBL
      B4DER3
      UniProtKB/TrEMBL
      B4DGH1
      UniProtKB/TrEMBL
      E7EPX7
      UniProtKB/TrEMBL
      Q59H91
      Related
      ENSP00000306253, ENST00000302640
      Conserved Domains (6) summary
      pfam08454
      Location:19562068
      Blast Score: 371
      RIH_assoc; RyR and IP3R Homology associated
      smart00472
      Location:231287
      Blast Score: 108
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      pfam00520
      Location:23532582
      Blast Score: 121
      Ion_trans; Ion transport protein
      pfam01365
      Location:457662
      Blast Score: 647
      RYDR_ITPR; RIH domain
      pfam02815
      Location:232418
      Blast Score: 654
      MIR; MIR domain
      pfam08709
      Location:4225
      Blast Score: 890
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
    3. NM_002222.5NP_002213.5  inositol 1,4,5-trisphosphate receptor type 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in a shorter isoform (2), compared to isoform 1.
      Source sequence(s)
      AB208868, AK293752, AK294594, BG202086, BQ006717, D26070, DA060305, DB260851
      Consensus CDS
      CCDS54550.1
      UniProtKB/TrEMBL
      B4DER3
      UniProtKB/TrEMBL
      B4DGH1
      UniProtKB/Swiss-Prot
      Q14643
      UniProtKB/TrEMBL
      Q59H91
      Related
      ENSP00000397885, OTTHUMP00000207085, ENST00000456211, OTTHUMT00000337980
      Conserved Domains (6) summary
      pfam08454
      Location:19082020
      Blast Score: 371
      RIH_assoc; RyR and IP3R Homology associated
      smart00472
      Location:231287
      Blast Score: 108
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      pfam00520
      Location:23052534
      Blast Score: 120
      Ion_trans; Ion transport protein
      pfam01365
      Location:457662
      Blast Score: 647
      RYDR_ITPR; RIH domain
      pfam02815
      Location:232418
      Blast Score: 654
      MIR; MIR domain
      pfam08709
      Location:4225
      Blast Score: 890
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000003.11 Reference GRCh37.p5 Primary Assembly

      Range
      4535032..4889524
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000135.1 Alternate HuRef

      Range
      4468779..4822934
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC018816.6 (67046..167019) None
    genomic AC024168.5 (133409..186271) None
    genomic AC069248.4 None
    genomic AC090944.2 None
    genomic AF009963.1 None
    genomic AL832689.1 None
    genomic AL832701.1 None
    genomic CH471055.1 EAW63908.1
      EAW63909.1
      EAW63910.1
      EAW63911.1
      EAW63912.1
      EAW63913.1
      EAW63914.1
      EAW63915.1
    genomic L47220.1 None
    mRNA AB208868.1 BAD92105.1
    mRNA AI470158.1 None
    mRNA AK293752.1 BAG57174.1
    mRNA AK294594.1 BAG57782.1
    mRNA AK296235.1 BAG58955.1
    mRNA AK309981.1 None
    mRNA AK311008.1 None
    mRNA AW501800.1 None
    mRNA BC144563.1 AAI44564.1
    mRNA BG202086.1 None
    mRNA BM695661.1 None
    mRNA BQ006717.1 None
    mRNA CN431631.1 None
    mRNA CV355426.1 None
    mRNA D26070.1 BAA05065.1
    mRNA DA060305.1 None
    mRNA DB260851.1 None
    mRNA DB544988.1 None
    mRNA DB576768.1 None
    mRNA L38019.2 AAB04947.2
    mRNA S82269.1 AAD14386.1
    mRNA U23850.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14643.2 GenPept UniProtKB/Swiss-Prot:Q14643
    Q59H91 GenPept UniProtKB/TrEMBL:Q59H91

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