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ITPR1 Gene

protein-coding   GIFtS: 71
GCID: GC03P004486

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

(Previous names: spinocerebellar ataxia 15, spinocerebellar ataxia 16, spinocerebellar...)
(Previous symbols: SCA15, SCA16, SCA29)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Inositol 1,4,5-Trisphosphate Receptor, Type 11 2     Spinocerebellar Ataxia 291
SCA151 2 5     ACV2
SCA161 2 5     CLA42
SCA291 2 5     IP3R2
Type 1 Inositol 1,4,5-Trisphosphate Receptor2 3     IP3R12
Type 1 InsP3 Receptor2 3     Inositol 1,4,5-Triphosphate Receptor, Type 12
INSP3R12 3     Inositol 1,4,5-Trisphosphate Receptor Type 12
IP3R 12 3     IP3 Receptor2
Spinocerebellar Ataxia 151     InsP3R13
Spinocerebellar Ataxia 161     IP3 Receptor Isoform 13

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 29, congenital nonprogressive, and spinocerebellar ataxia type15. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NT_022517.19  NC_018914.2  
Regulatory elements:
   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 Chromatin IP Primers for ITPR1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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)
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: 

  • Phosphorylated by cAMP kinase. Phosphorylation prevents the ligand-induced opening of the calcium channels (By
    similarity)1
  • Phosphorylated on tyrosine residues1
  • 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)1
  • Ubiquitination2 at Lys917, Lys972, Lys1581, Lys1780, Lys1893, Lys1894, Lys1895, Lys1910, Lys1933, Lys2127,
                                 Lys2266
  • Glycosylation2 at Asn2512
  • Modification sites at PhosphoSitePlus

  • See ITPR1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    ITPR1 Human Recombinant Protein Products:

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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
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    Novus Biologicals ITPR1 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ITPR1

    ITPR1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ITPR1
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    Cell Signaling Technology (CST) Antibodies for ITPR1  (IP3R1)
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    Novus Biologicals ITPR1 Antibodies
    Abcam antibodies for ITPR1
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    ITPR1 Assay Products:

    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)
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    HGNC Gene Families:
    ITPR: Ion channels / Inositol triphosphate receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: IP3R1
    IP3 receptor

    Selected InterPro protein domains (see all 8):
     IPR014821 Ins145_P3_rcpt
     IPR005821 Ion_trans_dom
     IPR000493 InsP3_rcpt-bd
     IPR015925 Ryanodine_recept-rel
     IPR013662 RIH_assoc-dom

    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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 

         7 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Itpr1):
     behavior/neurological  cellular  growth/size/body  mortality/aging  muscle 
     nervous system  vision/eye 

    ITPR1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Itpr1tm1Tno for ITPR1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ITPR1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ITPR1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ITPR1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ITPR1

    miRNA
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    miRTarBase miRNAs that target ITPR1:
    hsa-mir-32-5p (MIRT028366), hsa-mir-335-5p (MIRT017604), hsa-mir-128-3p (MIRT022001), hsa-mir-340-5p (MIRT019619), hsa-mir-424-5p (MIRT003225)

    Block miRNA regulation of human, mouse, rat ITPR1 using miScript Target Protectors
    Selected qRT-PCR 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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    Predesigned siRNA for gene silencing in human, mouse, rat ITPR1

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    OriGene ORF clones in mouse, rat for ITPR1
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    GenScript: all cDNA clones in your preferred vector (see all 3): ITPR1 (NM_001099952)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ITPR1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ITPR1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITPR1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ITPR1_HUMAN, Q14643: Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane3
    mitochondrion2
    nucleus2
    cytoskeleton1
    cytosol1
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (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


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ITPR1 About   (see all 85)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Ca-dependent events
    DAG and IP3 signaling0.94
    G-protein mediated events0.65
    EGFR interacts with phospholipase C-gamma0.94
    Phospholipase C-mediated cascade0.59
    PLC-gamma1 signalling0.94
    Opioid Signalling0.54
    PLCG1 events in ERBB2 signaling0.92
    Signal transduction Calcium signaling0.35
    2Development Endothelin 1 EDNRA signaling
    Development Endothelin 1 EDNRA signaling0.41
    GnRH signaling pathway0.38
    Development Endothelin 1 EDNRA transactivation of EGFR0.41
    Inflammatory mediator regulation of TRP channels0.37
    Cytoskeleton remodeling FAK signaling0.41
    Estrogen signaling pathway0.34
    3fMLP Pathway
    CCR3 Pathway in Eosinophils0.44
    CXCR4 Pathway0.39
    fMLP Pathway0.43
    Alpha-Adrenergic Signaling0.38
    Signal transduction Activation of PKC via G Protein coupled receptor0.42
    Huntington's Disease Pathway0.30
    4Alzheimer's disease
    Alzheimers Disease0.44
    Alzheimer's disease0.44
    5Signaling in Gap Junctions
    Signaling in Gap Junctions0.31
    Gap junction0.31

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe 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

    Selected 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

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

    Selected Reactome Pathways for ITPR1 (see all 11)
        Regulation of insulin secretion
    DAG and IP3 signaling
    Elevation of cytosolic Ca2+ levels
    cGMP effects
    Glucagon-like Peptide-1 (GLP1) regulates insulin secretion

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

    Selected Kegg Pathways  (Kegg details for ITPR1) (see all 24):
        Calcium signaling pathway
    Phosphatidylinositol signaling system
    Oocyte meiosis
    Vascular smooth muscle contraction
    Gap junction


    ITPR1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        GeneGlobe Interaction Network for ITPR1

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

    Selected Interacting proteins for ITPR1 (Q146433 ENSP000004059344) via UniProtKB, MINT, STRING, and/or I2D (see all 97)
    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): Selected biological process terms (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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    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--

    Selected 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)



    ITPR1 for compounds           About GeneDecksing



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
    Selected 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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    Selected qRT-PCR 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
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    OriGene ORF clones in mouse, rat for ITPR1
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    GenScript: all cDNA clones in your preferred vector (see all 3): ITPR1 (NM_001099952)
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ITPR1
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      QuantiFast Probe-based Assays in human, mouse, rat ITPR1

    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 

    Selected AceView cDNA sequences (see all 192):

    AW952362 BQ574552 AW129190 F05147 AI524298 CA389334 AA938421 AA346714 
    AI470158 AI915805 T08136 AA258237 CD678860 BQ006150 AW589447 AA034921 
    AW014222 BU171438 AA741138 BX091317 AA781248 BI489622 BM695661 AA325484 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ITPR1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Neural Crest (Gastrulation Derivatives)
             PureStem 7SMOO32, NCr-fac & Meso Progenitor
     
     Mesoderm (Gastrulation Derivatives)
             PureStem 7SMOO32, NCr-fac & Meso Progenitor
     
     Blood (Hematopoietic System)
             Mature B-Cells Peripheral Blood
    ITPR1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ITPR1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.567295

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

        Pathway & Disease-focused RT2 Profiler 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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITPR1

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for ITPR1 gene from Selected 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 76.09(n)
    87.38(a)
      100149388  XM_001921159.3  XP_001921194.3 
    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
    61.27(n)1
    62.3(a)1
      406641  NM_169060.21  NP_730941.11 
    worm
    (Caenorhabditis elegans)
    Secernentea itr-11 , 3 inositol 1,4,5-triphosphate receptor3
    itr-11
    37(a)3
    50.82(n)1
    44.83(a)1
      IV(7675362-7696891)3
    1775461  NM_001028001.21  NP_001023172.11 


    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)
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    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ITPR1 (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) Selected 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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ITPR1
    DNA2.0 Custom Variant and Variant Library Synthesis for ITPR1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 147265   
    OMIM disorders: 606658  117360  
    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

  • Selected diseases for ITPR1 (see all 41):    
    About MalaCards
    spinocerebellar ataxia 29, congenital nonprogressive    spinocerebellar ataxia type15    spinocerebellar ataxia 29    spinocerebellar ataxia type 15
    spinocerebellar ataxia    ataxia    transient cerebral ischemia    ischemia
    bipolar disorder    cerebellar ataxia    rheumatic disease    polycystic kidney disease
    sjogren's syndrome    cerebritis    glioblastoma multiforme    pulmonary function
    huntington's disease    thyroid cancer    peritonitis    kidney disease

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

    ITPR1 for disorders           About GeneDecksing

    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)
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    PubMed articles for ITPR1 gene, integrated from 10 sources (see all 386):
    (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. (Biochem. J. 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. (PLoS Genet. 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. (Brain Res. Mol. Brain Res. 1995)
    4. Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia. (PubMed id 22986007)1, 2, 3 Huang L....Boycott K.M. (Orphanet J. Rare Dis. 2012)
    5. Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families. (PubMed id 18579805)1, 2, 9 Hara K....Onodera O. (Neurology 2008)
    6. 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. (J. Biol. Chem. 1995)
    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. (Mol. Med. 2010)
    8. A functional genomics approach reveals novel quantitative trait loci associated with platelet signaling pathways. (PubMed id 19429868)1, 4 Jones C.I....Ouwehand W.H. (Blood 2009)
    9. The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors. (PubMed id 19730683)1, 4 Landa I....Robledo M. (PLoS Genet. 2009)
    10. Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16. (PubMed id 17932120)1, 3 Iwaki A....Fukumaki Y. (J. Med. Genet. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 3708 HGNC: 6180 AceView: ITPR1 Ensembl:ENSG00000150995 euGenes: HUgn3708
    ECgene: ITPR1 Kegg: 3708 H-InvDB: ITPR1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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