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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ITPR1 Gene

protein-coding   GIFtS: 71
GCID: GC03P004486

Inositol 1,4,5-Trisphosphate Receptor, Type 1

(Previous names: spinocerebellar ataxia 15, spinocerebellar ataxia 16)
(Previous symbols: SCA15, SCA16)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Inositol 1,4,5-Trisphosphate Receptor, Type 11 2     IP3R2
SCA151 2 5     IP3R12
SCA161 2 5     SCA292
Type 1 Inositol 1,4,5-Trisphosphate Receptor2 3     Inositol 1,4,5-Triphosphate Receptor, Type 12
Type 1 InsP3 Receptor2 3     Inositol 1,4,5-Trisphosphate Receptor Type 12
INSP3R12 3     IP3 Receptor2
IP3R 12 3     InsP3R13
Spinocerebellar Ataxia 151     IP3 Receptor Isoform 13
Spinocerebellar Ataxia 161     

External Ids:    HGNC: 61801   Entrez Gene: 37082   Ensembl: ENSG000001509957   OMIM: 1472655   UniProtKB: Q146433   

Export aliases for ITPR1 gene to outside databases

Previous GC identifers: GC03P004463 GC03P004510


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ITPR1 Gene:
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)

GeneCards Summary for ITPR1 Gene: 
ITPR1 (inositol 1,4,5-trisphosphate receptor, type 1) is a protein-coding gene. Diseases associated with ITPR1 include spinocerebellar ataxia type15, and spinocerebellar ataxia type 15, and among its related super-pathways are DAG and IP3 signaling and fMLP Pathway. GO annotations related to this gene include intracellular ligand-gated calcium channel activity and phosphatidylinositol binding. An important paralog of this gene is RYR2.

UniProtKB/Swiss-Prot: ITPR1_HUMAN, Q14643
Function: Intracellular channel that mediates calcium release from the endoplasmic reticulum following stimulation
by inositol 1,4,5-trisphosphate. 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)

summary for ITPR1 Gene:
Inositol 1,4,5-triphosphate (IP3) receptors are a form of ligand-gated ion channels that are activated by
cytosolic Ca2+ and IP3. They are localized to intracellular membranes, such as the endoplasmic reticulum,
and mediate the mobilization of intracellular Ca2+ stores. IP3 receptors play an important role in
intracellular Ca2+ signaling in a variety of cell types. There are three IP3 receptor subtypes; IP3R1, IP3R2
and IP3R3, which exist as homo- and heterotetramers. All subtypes are closely associated with calmodulin and
FK506-binding protein and are modulated through phosphorylation by PKA, PKC, PKG and CaMKII.

Gene Wiki entry for ITPR1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_022517.18  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ITPR1 gene promoter:
         TBP   AML1a   FOXF2   Pax-5   HNF-1A   Egr-2   SRY   HNF-1   Sox9   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidITPR1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ITPR1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ITPR1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p26.1   Ensembl cytogenetic band:  3p26.1   HGNC cytogenetic band: 3p26.1

ITPR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ITPR1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P004486:  view genomic region     (about GC identifiers)

Start:
4,535,032 bp from pter      End:
4,889,524 bp from pter
Size:
354,493 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ITPR1_HUMAN, Q14643 (See protein sequence)
Recommended Name: Inositol 1,4,5-trisphosphate receptor type 1  
Size: 2758 amino acids; 313929 Da
Subunit: Homotetramer. Interacts with TRPC4. The PPXXF motif binds HOM1, HOM2 and HOM3. Interacts with RYR1, RYR2,
ITPR1, SHANK1 and SHANK3. Interacts with ERP44 in a pH-, redox state- and calcium-dependent manner which results
in the inhibition the calcium channel activity. The strength of this interaction inversely correlates with
calcium concentration. Part of cGMP kinase signaling complex at least composed of ACTA2/alpha-actin,
CNN1/calponin H1, PLN/phospholamban, PRKG1 and ITPR1. Interacts with AHCYL1 (By similarity). Interacts with MRVI1
and CABP1 (via N-terminus)
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
Miscellaneous: Calcium appears to inhibit ligand binding to the receptor, most probably by interacting with a
distinct calcium-binding protein which then inhibits the receptor
Caution: Alternative splice sites (AA 1053-1054) represent a non-canonical GA-AG donor-acceptor pair, but are
well-supported by all available human transcripts, and by homologous transcripts in mouse, rat and cow
Secondary accessions: E7EPX7 E9PDE9 Q14660 Q99897
Alternative splicing: 8 isoforms:  Q14643-1   Q14643-2   Q14643-3   Q14643-4   Q14643-5   Q14643-6   Q14643-7   Q14643-8   

Explore the universe of human proteins at neXtProt for ITPR1: NX_Q14643

Explore proteomics data for ITPR1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated by cAMP kinase. Phosphorylation prevents the ligand-induced opening of the calcium channels (By
    similarity)
  • UniProtKB: Phosphorylated on tyrosine residues
  • UniProtKB: Ubiquitination at multiple lysines targets ITPR1 for proteasomal degradation. Approximately 40% of the
    ITPR1-associated ubiquitin is monoubiquitin, and polyubiquitins are both 'Lys-48'- and 'Lys-63'-linked (By
    similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q14643

  • ITPR1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ITPR1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001093422.2  NP_001161744.1  NP_002213.5  

    ENSEMBL proteins: 
     ENSP00000349597   ENSP00000397885   ENSP00000401671   ENSP00000306253   ENSP00000346595  
     ENSP00000405934   ENSP00000440564  
    Reactome Protein details: Q14643
    Human Recombinant Protein Products for ITPR1: 
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    Novus Biologicals ITPR1 Protein
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ITPR1 

    Gene Ontology (GO): 5/15 cellular component terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005635nuclear envelope ----
    GO:0005637nuclear inner membrane IEA--
    GO:0005730nucleolus IEA--
    GO:0005737cytoplasm ----
    GO:0005783endoplasmic reticulum NAS8648241

    ITPR1 for ontologies           About GeneDecksing



    ITPR1 Antibody Products: 
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    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for ITPR1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ITPR1 
    Cloud-Clone Corp. CLIAs for ITPR1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ITPR: Ion channels / Inositol triphosphate receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: IP3R1 
    IP3 receptor

    5/7 InterPro protein domains (see all 7):
     IPR014821 Ins145_P3_rcpt
     IPR005821 Ion_trans_dom
     IPR000493 InsP3_rcpt-bd
     IPR015925 Ryanodine_recept-rel
     IPR000699 Ca-rel_channel

    Graphical View of Domain Structure for InterPro Entry Q14643

    ProtoNet protein and cluster: Q14643

    4 Blocks protein domains:
    IPB000493 Inositol 1,4,5-trisphosphate-binding protein receptor signature
    IPB000699 Intracellular calcium-release channel
    IPB003608 MIR domain
    IPB013662 RyR and IP3R Homology associated


    UniProtKB/Swiss-Prot: ITPR1_HUMAN, Q14643
    Domain: The receptor contains a calcium channel in its C-terminal extremity. Its large N-terminal cytoplasmic
    region has the ligand-binding site in the N-terminus and modulatory sites in the middle portion immediately
    upstream of the channel region
    Similarity: Belongs to the InsP3 receptor family
    Similarity: Contains 5 MIR domains


    ITPR1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ITPR1_HUMAN, Q14643
    Function: Intracellular channel that mediates calcium release from the endoplasmic reticulum following stimulation
    by inositol 1,4,5-trisphosphate. 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)

         Genatlas biochemistry entry for ITPR1:
    inositol 1,4,5-triphosphate receptor,type 1,coexpressed with RYR3 in neurons and smooth muscle cells forming
    heterotetrameric channel with ITPR2 and ITPR3,involved in Ca++ mobilization from the endoplastic reticulum,highly
    sensitive to ATP mediating less regular Ca++ oscillations,in T lymphocyte

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005218intracellular ligand-gated calcium channel activity ISS--
    GO:0005220inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity TAS8648241
    GO:0005262calcium channel activity ----
    GO:0005515protein binding IPI--
         
    ITPR1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ITPR1:
     Cell division defect 

         6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Itpr1):
     behavior/neurological  cellular  growth/size  mortality/aging  muscle 
     nervous system 

    ITPR1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Itpr1tm1Tno for ITPR1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ITPR1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ITPR1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ITPR1 
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    miRTarBase miRNAs that target ITPR1:
    hsa-mir-424 (MIRT003225)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ITPR1
    8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate ITPR1 (see all 34):
    hsa-miR-3678-3p hsa-miR-26a-2* hsa-miR-25 hsa-miR-301a hsa-miR-519a hsa-miR-764 hsa-miR-92b hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmidITPR1 3' UTR sequence
    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 3): ITPR1 (NM_001099952)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITPR1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ITPR1 About   (see all 84)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Ca-dependent events
    DAG and IP3 signaling0.94
    G-protein mediated events0.64
    EGFR interacts with phospholipase C-gamma0.94
    Phospholipase C-mediated cascade0.57
    PLC-gamma1 signalling0.94
    Opioid Signalling0.55
    PLCG1 events in ERBB2 signaling0.91
    Beta-agonist/Beta-blocker Pathway, Pharmacodynamics0.35
    2fMLP Pathway
    CCR3 Pathway in Eosinophils0.44
    Alpha-Adrenergic Signaling0.38
    fMLP Pathway0.43
    Signal transduction Calcium signaling0.34
    Signal transduction Activation of PKC via G-Protein coupled receptor0.42
    Huntington's Disease Pathway0.30
    CXCR4 Pathway0.39
    3Development Endothelin-1/EDNRA signaling
    Development Endothelin-1/EDNRA signaling0.41
    GnRH signaling pathway0.38
    Development Endothelin-1/EDNRA transactivation of EGFR0.41
    Estrogen signaling pathway0.34
    Cytoskeleton remodeling FAK signaling0.41
    4Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Huntington's disease0.47
    Alzheimers Disease0.44
    Alzheimer's disease0.46
    5Development FGF-family signaling
    Development FGF-family signaling0.63
    FGF Pathway0.38
    Development FGFR signaling pathway0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/40 EMD Millipore Pathways for ITPR1 (see all 40)
        Translation Translation regulation by Alpha-1 adrenergic receptors
    Development Activation of ERK by Alpha-1 adrenergic receptors
    Immune response CD16 signaling in NK cells
    Cytoskeleton remodeling FAK signaling
    Signal transduction IP3 signaling

    5/47 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ITPR1 (see all 47)
        Fc-GammaR Pathway
    Intracellular Calcium Signaling
    Visual Cycle in Retinal Rods
    PI3K Signaling in B-Lymphocyte
    PACAP Signaling

    2 Cell Signaling Technology (CST) Pathways for ITPR1
        Ca, cAMP and Lipid Signaling
    Neuroscience

    5/41 GeneGo (Thomson Reuters) Pathways for ITPR1 (see all 41)
        Development FGF-family signaling
    Development Endothelin-1/EDNRA signaling
    Immune response CD28 signaling
    Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling
    Development VEGF-family signaling

    5/7 BioSystems Pathways for ITPR1 (see all 7)
        Myometrial Relaxation and Contraction Pathways
    G Protein Signaling Pathways
    Serotonin Receptor 2 and ELK-SRF/GATA4 signaling
    Calcium Regulation in the Cardiac Cell
    TCR Signaling Pathway

    5/47        Reactome Pathways for ITPR1 (see all 47)
        Platelet homeostasis
    Signaling by EGFR in Cancer
    Nitric oxide stimulates guanylate cyclase
    Elevation of cytosolic Ca2+ levels
    Downstream signal transduction

    1 PharmGKB Pathway for ITPR1
        Beta-agonist/Beta-blocker Pathway, Pharmacodynamics

    5/22         Kegg Pathways  (Kegg details for ITPR1) (see all 22):
        Calcium signaling pathway
    Phosphatidylinositol signaling system
    Oocyte meiosis
    Vascular smooth muscle contraction
    Gap junction


    ITPR1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ITPR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/86 Interacting proteins for ITPR1 (Q146433 ENSP000004059344) via UniProtKB, MINT, STRING, and/or I2D (see all 86)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STARD13Q9Y3M83, ENSP000003387854I2D: score=4 STRING: ENSP00000338785
    EPB41L1Q9H4G03, ENSP000003371684I2D: score=3 STRING: ENSP00000337168
    AHCYL1O438653, ENSP000003588144I2D: score=2 STRING: ENSP00000358814
    BCL2P104153, ENSP000003296234I2D: score=2 STRING: ENSP00000329623
    ITPR3Q145733, ENSP000003634354I2D: score=2 STRING: ENSP00000363435
    About this table

    Gene Ontology (GO): 5/24 biological process terms (GO ID links to tree view) (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia IDA19120137
    GO:0006112energy reserve metabolic process TAS--
    GO:0006811ion transport ----
    GO:0006816calcium ion transport NAS7852357
    GO:0007165signal transduction TAS--

    ITPR1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ITPR1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for ITPR1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    (-)-Xestospongin CInhibits IP3-mediated Ca2+ release[88903-69-9]
    2-APBIP3 receptor antagonist. Also TRP channel modulator[524-95-8]

    3 HMDB Compounds for ITPR1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Cyclic AMPCyclic AMP (see all 19)60-92-4--
    Inositol 1,4,5-trisphosphate1D-myo-Inositol 1,4,5-trisphosphate (see all 4)88269-39-0--

    2 DrugBank Compounds for ITPR1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    D-Myo-Inositol-1,4,5-Triphosphate-- --target--17139284 17016423 10592235
    Glycerol-- --target--17139284 17016423 10592235

    10 IUPHAR Ligands for ITPR1 (IP3R1)    About this table 
    LigandTypeActionAffinityPubmed IDs
    ATP
    ActivatorNone--
    IP3
    ActivatorNone--
    xestospongin C
    AntagonistAntagonist--
    caffeine
    AntagonistAntagonist--
    adenophostin A
    ActivatorNone--
    PIP2
    AntagonistAntagonist--
    Ca2+
    ActivatorNone--
    decavanadate
    AntagonistAntagonist--
    Ins(2,4,5)P3
    ActivatorNone--
    heparin
    AntagonistAntagonist--

    10/41 Novoseek inferred chemical compound relationships for ITPR1 gene (see all 41)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    inositol 1,4,5 trisphosphate 95.7 264 10859592 (2), 15016804 (2), 7500840 (2), 9677320 (2) (see all 99)
    ryanodine 82.9 38 12921667 (2), 9325384 (1), 11117745 (1), 15160398 (1) (see all 32)
    calcium 77.4 458 10456332 (6), 12939273 (5), 16278292 (5), 10318833 (4) (see all 99)
    p-mca 63.4 1 17051729 (1)
    inositol 63.2 12 15284241 (2), 10456332 (1), 9511764 (1), 9602035 (1) (see all 10)
    2-amino-4-phosphonobutyric acid 61.8 2 14666665 (1), 16899571 (1)
    u 73122 58.5 1 16455784 (1)
    thapsigargin 56.6 4 19475562 (1), 9214625 (1), 12968951 (1)
    thimerosal 56.2 10 7961860 (4), 10326677 (2), 20039269 (1), 16173918 (1)
    cyclic adp-ribose 52.6 9 10326677 (3), 11714667 (1), 17118015 (1), 10326681 (1)

    Search CenterWatch for drugs/clinical trials and news about ITPR1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ITPR1 gene (3 alternative transcripts): 
    NM_001099952.2  NM_001168272.1  NM_002222.5  

    Unigene Cluster for ITPR1:

    Inositol 1,4,5-trisphosphate receptor, type 1
    Hs.567295  [show with all ESTs]
    Unigene Representative Sequence: NM_001168272
    18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000467056(uc010hbz.3) ENST00000357086 ENST00000456211 ENST00000443694
    ENST00000491868 ENST00000477577 ENST00000494681 ENST00000487016 ENST00000479831
    ENST00000481415 ENST00000467545 ENST00000493491 ENST00000463980 ENST00000490572
    ENST00000472205 ENST00000478515 ENST00000302640(uc003bqc.3) ENST00000354582(uc021wsi.1 uc021wsj.1)


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    Additional mRNA sequence: 

    AB208868.1 AK293752.1 AK294594.1 AK296235.1 AK309981.1 AK311008.1 BC144563.1 BX640953.1 
    BX647588.1 D26070.1 L38019.2 S82269.1 U23850.1 

    14 DOTS entries:

    DT.97786633  DT.454287  DT.120909954  DT.95345304  DT.86853961  DT.92429405  DT.424847  DT.102827098 
    DT.86853962  DT.120909888  DT.309979  DT.120909982  DT.65286278  DT.75173211 

    24/192 AceView cDNA sequences (see all 192):

    AW952362 BX490318 AI648690 BQ574552 AW129190 T08136 CD678861 F05147 
    T08137 AI683651 AI524298 F03566 AA969773 BU634139 AI470158 BQ006150 
    AI805817 AI915805 AA648993 CA389334 AA938421 CA390874 AA346714 AA258237 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for ITPR1 (see all 10)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31a · 31b ^ 32a · 32b ^ 33 ^ 34 ^ 35a · 35b ^ 36 ^ 37a · 37b ^ 38 ^ 39 ^ 40 ^ 41 ^ 42a · 42b ^ 43a ·
    SP1:        -                             -           -                                   -                                                     -               
    SP2:  -     -     -     -                                                                                                                                       
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 43b ^ 44a · 44b · 44c ^ 45 ^ 46a · 46b ^ 47a · 47b
    SP1:        -                             -               
    SP2:                                                      
    SP3:                                                      
    SP4:                                                      
    SP5:        -                                             


    ECgene alternative splicing isoforms for ITPR1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ITPR1 expression in normal human tissues (normalized intensities)      ITPR1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATCTCATTT
    ITPR1 Expression
    About this image


    ITPR1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Neural Crest (Gastrulation Derivatives)
             PureStem 7SMOO32, NCr-fac & Meso Progenitor
     
     Endothelium (Cardiovascular System)
             Human corneal endothelial cells
     
     Mesoderm (Gastrulation Derivatives)
             PureStem 7SMOO32, NCr-fac & Meso Progenitor
     
     Eye (Sensory Organs)
             Human corneal endothelial cells

    See ITPR1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ITPR1

    SOURCE GeneReport for Unigene cluster: Hs.567295

    UniProtKB/Swiss-Prot: ITPR1_HUMAN, Q14643
    Tissue specificity: Widely expressed

        SABiosciences Expression via Pathway-Focused PCR Arrays including ITPR1: 
              Hypertension in human mouse rat
              GABA & Glutamate in human mouse rat
              Huntington's Disease in human mouse rat
              Gap Junctions in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ITPR1 gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Itpr11 , 5 inositol 1,4,5-trisphosphate receptor 11, 5 89.66(n)1
    98.65(a)1
      6 (49.74 cM)5
    164381  NM_010585.51  NP_034715.31 
     1082131185 
    chicken
    (Gallus gallus)
    Aves ITPR11 inositol 1,4,5-trisphosphate receptor, type 1 82.26(n)
    95.66(a)
      395412  NM_001174059.1  NP_001167530.1 
    lizard
    (Anolis carolinensis)
    Reptilia ITPR16
    inositol 1,4,5-trisphosphate receptor, type 1
    92(a)
    1 ↔ 1
    2(173164155-173356640)
    African clawed frog
    (Xenopus laevis)
    Amphibia D14400.12   -- 78.43(n)    D14400.1 
    zebrafish
    (Danio rerio)
    Actinopterygii itpr11 inositol 1,4,5-triphosphate receptor, type 1 75.92(n)
    87(a)
      100149388  XM_001921159.2  XP_001921194.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Itp-r83A1 , 3 molting cycle (sensu Insecta)
    inositol-1,4,5-triphosphate receptor less3
    Inositol 1,4,5,-tris-phosphate receptor1
    57(a)3
    61.15(n)1
    62.2(a)1
      406641  NM_169060.11  NP_730941.11 
    worm
    (Caenorhabditis elegans)
    Secernentea itr-13 inositol 1,4,5-triphosphate receptor 37(a)   IV(7675362-7696891)   --


    ENSEMBL Gene Tree for ITPR1 (if available)
    TreeFam Gene Tree for ITPR1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ITPR1 gene
    RYR22  ITPR32  ITPR22  RYR12  RYR32  
    2 SIMAP similar genes for ITPR1 using alignment to 4 protein entries:     ITPR1_HUMAN (see all proteins):
    ITPR2    ITPR3

    ITPR1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/8850 SNPs in ITPR1 are shown (see all 8850)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0695684
    Spinocerebellar ataxia 15 (SCA15)4--see VAR_0695682 P L mis40--------
    VAR_0695674
    Spinocerebellar ataxia 29 (SCA29)4--see VAR_0695672 N D mis40--------
    VAR_0695694
    Spinocerebellar ataxia 29 (SCA29)4--see VAR_0695692 V M mis40--------
    rs1390403371,2
    C--4470367(+) GCACGC/TACATC 3 -- int10--------
    rs1422362911,2
    --4470446(+) GGGTAA/GCAGAG 3 -- int10--------
    rs1904834661,2
    --4470460(+) GGTGGA/GGGTGG 3 -- int10--------
    rs1816702741,2
    --4470577(+) ATAGTA/GGTATA 3 -- int10--------
    rs1774411,2
    C,F,H--4470612(-) CTCCTG/AAGGAT 3 -- int117Minor allele frequency- A:0.09NS EA NA WA 2074
    rs1461926951,2
    --4470704(+) GCTCAC/TAGAGC 3 -- int10--------
    rs1390709321,2
    --4470867(+) TGTGCA/GTCAGA 3 -- int10--------

    HapMap Linkage Disequilibrium report for ITPR1 (4535032 - 4785032 bp, first 250kb of ITPR1)

    Structural Variations
         Database of Genomic Variants (DGV) 10/24 variations for ITPR1 (see all 24):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1521656CNV Deletion17803354
    esv2724829CNV Deletion23290073
    esv2724827CNV Deletion23290073
    esv2422450CNV Deletion17116639
    esv2346022CNV Deletion18987734
    esv2724831CNV Deletion23290073
    esv2662691CNV Deletion23128226
    esv2724826CNV Deletion23290073
    esv2724830CNV Deletion23290073
    esv987725CNV Deletion20482838


    Human Gene Mutation Database (HGMD): ITPR1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 147265   
    OMIM disorders: 606658  
    UniProtKB/Swiss-Prot: ITPR1_HUMAN, Q14643
  • Spinocerebellar ataxia 15 (SCA15) [MIM:606658]: Spinocerebellar ataxia is a clinically and genetically
    heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor
    coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement
    of the brainstem and spinal cord. SCA15 is an autosomal dominant cerebellar ataxia (ADCA). It is very slow
    progressing form with a wide range of onset, ranging from childhood to adult. Most patients remain ambulatory.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Spinocerebellar ataxia 29 (SCA29) [MIM:117360]: An autosomal dominant, congenital spinocerebellar ataxia
    characterized by early motor delay, hypotonia and mild cognitive delay. Affected individuals develop a very
    slowly progressive or non-progressive gait and limb ataxia associated with cerebellar atrophy on brain imaging.
    Additional variable features include nystagmus, dysarthria, and tremor. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 20/32 diseases for ITPR1 (see all 32):    About MalaCards
    spinocerebellar ataxia type15    spinocerebellar ataxia type 15    spinocerebellar ataxia    ataxia
    transient cerebral ischemia    ischemia    bipolar disorder    cerebellar ataxia
    rheumatic disease    sjogren's syndrome    cerebritis    gastric cancer
    huntington's disease    peritonitis    kidney disease    glioblastoma
    alcoholism    hypertension    hepatitis b    neuroblastoma

    2 diseases from the University of Copenhagen DISEASES database for ITPR1:
    Spinocerebellar ataxia     Cerebellar ataxia

    ITPR1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    9 Novoseek inferred disease relationships for ITPR1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sca15 89.6 19 17590087 (4), 12828938 (3), 18579805 (3), 20437544 (1) (see all 5)
    malignant ascites 31.5 2 14666665 (1), 14619519 (1)
    cerebral ischemia 5.83 4 9602035 (1), 11166129 (1), 10473264 (1)
    necrosis 3.53 1 10567423 (1)
    tumors 0.701 2 10567423 (1), 18364356 (1)
    ischemia 0 1 10473264 (1)
    bipolar disorder 0 3 8115665 (1), 11356237 (1), 16691292 (1)
    gastric cancer 0 2 14666665 (1), 14619519 (1)
    heart failure 0 7 9476544 (3), 7860772 (1), 9124414 (1)

    GeneTests: ITPR1
    GeneReviews: ITPR1
    Genetic Association Database (GAD): ITPR1
    Human Genome Epidemiology (HuGE) Navigator: ITPR1 (4 documents)

    Export disorders for ITPR1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ITPR1 gene, integrated from 9 sources (see all 380):
    (articles sorted by number of sources associating them with ITPR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human inositol 1,4,5-trisphosphate type-1 receptor, InsP3R1: structure, function, regulation of expression and chromosomal localization. (PubMed id 7945203)1, 2, 3, 9 Yamada N....Mikoshiba K. (1994)
    2. Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. (PubMed id 17590087)1, 2, 3, 9 van de Leemput J.... Singleton A.B. (2007)
    3. Molecular cloning of a cDNA for the human inositol 1,4,5- trisphosphate receptor type 1, and the identification of a third alternatively spliced variant. (PubMed id 7500840)1, 2, 3, 9 Nucifora F.C. Jr.... Ross C.A. (1995)
    4. Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families. (PubMed id 18579805)1, 2, 9 Hara K....Onodera O. (2008)
    5. The human type 1 inositol 1,4,5-trisphosphate receptor from T lymphocytes. Structure, localization, and tyrosine phosphorylation. (PubMed id 7852357)1, 2, 9 Harnick D.J.... Marks A.R. (1995)
    6. Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia. (PubMed id 22986007)1, 2 Huang L....Boycott K.M. (2012)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    8. A functional genomics approach reveals novel quantitative trait loci associated with platelet signalling pathways. (PubMed id 19429868)1, 4 Jones C.I....Ouwehand W.H. (2009)
    9. The variant rs1867277 in FOXE1 gene confers thyroid c ancer susceptibility through the recruitment of USF1/USF2 transcription factors . (PubMed id 19730683)1, 4 Landa I....Robledo M. (2009)
    10. Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16. (PubMed id 17932120)1, 3 Iwaki A....Fukumaki Y. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3708 HGNC: 6180 AceView: ITPR1 Ensembl:ENSG00000150995 euGenes: HUgn3708
    ECgene: ITPR1 Kegg: 3708 H-InvDB: ITPR1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ITPR1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ITPR1 gene:
    Search GeneIP for patents involving ITPR1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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     Browse ProSpec Recombinant Proteins




     Proteins for ITPR1
     Antibodies for ITPR1
     ELISAs for ITPR1
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     Search LifeMap BioReagents cell lines for ITPR1
     Gene Synthesis
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     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITPR1
     SwitchGear 3'UTR luciferase reporter plasmids for ITPR1
     SwitchGear Promoter luciferase reporter plasmids for ITPR1
     Search ThermoFisher Antibodies for ITPR1
     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ITPR1
     inGenious Targeting Laboratory - Custom generated mouse model solutions for ITPR1
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ITPR1
    Customized:
     lentivirus for stable overexpression
     lentivirus expression plasmids for stable overexpression
     adenovirus for overexpression
     LSBio Antibodies in human, mouse, rat for ITPR1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
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     Translational medicine
     Tissue-specific gene expresssion
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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