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ITPK1 Gene

protein-coding   GIFtS: 60
GCID: GC14M093403

Inositol-Tetrakisphosphate 1-Kinase

(Previous name: inositol 1,3,4-triphosphate 5/6 kinase)
  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-Tetrakisphosphate 1-Kinase1 2     ITRPK12
Inositol 1,3,4-Triphosphate 5/6 Kinase1 2     Inositol 1,3,4-Trisphosphate 5/6 Kinase2
Inositol 1,3,4-Trisphosphate 5/6-Kinase2 3     EC 2.7.1.1343
Inositol-Triphosphate 5/6-Kinase2 3     EC 2.7.1.1593
Ins(1,3,4)P(3) 5/6-Kinase2 3     

External Ids:    HGNC: 61771   Entrez Gene: 37052   Ensembl: ENSG000001006057   OMIM: 6018385   UniProtKB: Q135723   

Export aliases for ITPK1 gene to outside databases

Previous GC identifers: GC14M090910 GC14M087219 GC14M091393 GC14M091394 GC14M092473 GC14M073584


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ITPK1 Gene:
ITPK1 (inositol-tetrakisphosphate 1-kinase) is a protein-coding gene. Diseases associated with ITPK1 include neural tube defects, and endometriosis. GO annotations related to this gene include magnesium ion binding and inositol tetrakisphosphate 1-kinase activity.

UniProtKB/Swiss-Prot: ITPK1_HUMAN, Q13572
Function: Kinase that can phosphorylate various inositol polyphosphate such as Ins(3,4,5,6)P4 or Ins(1,3,4)P3.
Phosphorylates Ins(3,4,5,6)P4 at position 1 to form Ins(1,3,4,5,6)P5. This reaction is thought to have regulatory
importance, since Ins(3,4,5,6)P4 is an inhibitor of plasma membrane Ca(2+)-activated Cl(-) channels, while
Ins(1,3,4,5,6)P5 is not. Also phosphorylates Ins(1,3,4)P3 on O-5 and O-6 to form Ins(1,3,4,6)P4, an essential
molecule in the hexakisphosphate (InsP6) pathway. Also acts as an inositol polyphosphate phosphatase that
dephosphorylate Ins(1,3,4,5)P4 and Ins(1,3,4,6)P4 to Ins(1,3,4)P3, and Ins(1,3,4,5,6)P5 to Ins(3,4,5,6)P4. May
also act as an isomerase that interconverts the inositol tetrakisphosphate isomers Ins(1,3,4,5)P4 and
Ins(1,3,4,6)P4 in the presence of ADP and magnesium. Probably acts as the rate-limiting enzyme of the InsP6
pathway. Modifies TNF-alpha-induced apoptosis by interfering with the activation of TNFRSF1A-associated death
domain

Gene Wiki entry for ITPK1 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_000014.9  NC_018925.2  NT_026437.13  NT_187601.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the ITPK1 gene promoter:
         AML1a   HNF-4alpha2   E4BP4   Arnt   HNF-4alpha1   Evi-1   MEF-2A   aMEF-2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidITPK1 promoter sequence
   Search Chromatin IP Primers for ITPK1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ITPK1


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

Entrez Gene cytogenetic band: 14q31   Ensembl cytogenetic band:  14q32.12   HGNC cytogenetic band: 14q32.12

ITPK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ITPK1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M093403:  view genomic region     (about GC identifiers)

Start:
93,403,259 bp from pter      End:
93,582,665 bp from pter
Size:
179,407 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ITPK1_HUMAN, Q13572 (See protein sequence)
Recommended Name: Inositol-tetrakisphosphate 1-kinase  
Size: 414 amino acids; 45621 Da
Cofactor: Binds 2 magnesium ions per subunit
Subunit: Monomer. Interacts with GPS1/COPS1
Caution: PubMed:11533064 detected some protein kinase activity and ability to phosphorylate transcription factors
c-jun/JUN and ATF2. However, PubMed:15762844 showed that it does not have protein kinase activity
3 PDB 3D structures from and Proteopedia for ITPK1:
2ODT (3D)        2Q7D (3D)        2QB5 (3D)    
Secondary accessions: Q9BTL6 Q9H2E7
Alternative splicing: 2 isoforms:  Q13572-1   Q13572-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ITPK1: NX_Q13572

Explore proteomics data for ITPK1 at MOPED

Post-translational modifications: 

  • Acetylation by EP300 and CREBBP destabilizes ITPK1, and down-regulates enzymatic activity. Deacetylated by SIRT11
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ITPK1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001136065.1  NP_001136066.1  NP_055031.2  

    ENSEMBL proteins: 
     ENSP00000267615   ENSP00000346272   ENSP00000451091   ENSP00000451893   ENSP00000451154  
     ENSP00000451323   ENSP00000452258   ENSP00000452230   ENSP00000450421  
    Reactome Protein details: Q13572

    ITPK1 Human Recombinant Protein Products:

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    Novus Biologicals ITPK1 Proteins
    Novus Biologicals ITPK1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for ITPK1
    Cloud-Clone Corp. Proteins for ITPK1

    ITPK1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    ThermoFisher Antibody for ITPK1
    LSBio Antibodies in human, mouse, rat for ITPK1

    ITPK1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for ITPK1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ITPK1
    Cloud-Clone Corp. CLIAs for ITPK1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR011761 ATP-grasp
     IPR008656 Inositol_tetrakis-P_1-kinase

    Graphical View of Domain Structure for InterPro Entry Q13572

    ProtoNet protein and cluster: Q13572

    UniProtKB/Swiss-Prot: ITPK1_HUMAN, Q13572
    Similarity: Belongs to the ITPK1 family
    Similarity: Contains 1 ATP-grasp domain


    ITPK1 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: ITPK1_HUMAN, Q13572
    Function: Kinase that can phosphorylate various inositol polyphosphate such as Ins(3,4,5,6)P4 or Ins(1,3,4)P3.
    Phosphorylates Ins(3,4,5,6)P4 at position 1 to form Ins(1,3,4,5,6)P5. This reaction is thought to have regulatory
    importance, since Ins(3,4,5,6)P4 is an inhibitor of plasma membrane Ca(2+)-activated Cl(-) channels, while
    Ins(1,3,4,5,6)P5 is not. Also phosphorylates Ins(1,3,4)P3 on O-5 and O-6 to form Ins(1,3,4,6)P4, an essential
    molecule in the hexakisphosphate (InsP6) pathway. Also acts as an inositol polyphosphate phosphatase that
    dephosphorylate Ins(1,3,4,5)P4 and Ins(1,3,4,6)P4 to Ins(1,3,4)P3, and Ins(1,3,4,5,6)P5 to Ins(3,4,5,6)P4. May
    also act as an isomerase that interconverts the inositol tetrakisphosphate isomers Ins(1,3,4,5)P4 and
    Ins(1,3,4,6)P4 in the presence of ADP and magnesium. Probably acts as the rate-limiting enzyme of the InsP6
    pathway. Modifies TNF-alpha-induced apoptosis by interfering with the activation of TNFRSF1A-associated death
    domain
    Catalytic activity: ATP + 1D-myo-inositol 3,4,5,6-tetrakisphosphate = ADP + 1D-myo-inositol
    1,3,4,5,6-pentakisphosphate
    Catalytic activity: ATP + 1D-myo-inositol 1,3,4-trisphosphate = ADP + 1D-myo-inositol 1,3,4,5-tetrakisphosphate
    Catalytic activity: ATP + 1D-myo-inositol 1,3,4-trisphosphate = ADP + 1D-myo-inositol 1,3,4,6-tetrakisphosphate
    Biophysicochemical properties: Kinetic parameters: KM=0.3 uM for Ins(1,3,4)P3; KM=0.1 uM for Ins(3,4,5,6)P4;
    Vmax=320 pmol/min/ug enzyme with Ins(1,3,4)P3 as substrate; Vmax=780 pmol/min/ug enzyme enzyme with
    Ins(3,4,5,6)P4 as substrate;

         Enzyme Numbers (IUBMB): EC 2.7.1.1341 EC 2.7.1.1591

         Gene Ontology (GO): Selected molecular function terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IEA--
    GO:0003824catalytic activity TAS8662638
    GO:0005524ATP binding IEA--
    GO:0016853isomerase activity IEA--
    GO:0047325inositol tetrakisphosphate 1-kinase activity TAS--
         
    ITPK1 for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for ITPK1:
     Decreased 12E8 tau but not tot  Decreased focal adhesion (FA)   Decreased melanin production  Increased cell number in G1, a 
     Increased viability with 4OH t 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Itpk1):
     embryogenesis  growth/size/body  nervous system  skeleton 

    ITPK1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ITPK1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ITPK1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ITPK1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ITPK1

    miRNA
    Products:
        
    miRTarBase miRNAs that target ITPK1:
    hsa-mir-421 (MIRT039431)

    Block miRNA regulation of human, mouse, rat ITPK1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ITPK1 (see all 38):
    hsa-miR-330-5p hsa-miR-199a-3p hsa-miR-301a hsa-miR-30d hsa-miR-548m hsa-miR-1244 hsa-miR-30a hsa-miR-326
    SwitchGear 3'UTR luciferase reporter plasmidITPK1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ITPK1
    Predesigned siRNA for gene silencing in human, mouse, rat ITPK1

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for ITPK1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ITPK1 (NM_001142593)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ITPK1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ITPK1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for ITPK1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITPK1


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    mitochondrion2
    nucleus2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005829cytosol TAS--

    ITPK1 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 ITPK1 About    
    See pathways by source

    SuperPathContained pathways About
    1Inositol phosphate metabolism (KEGG)
    Inositol phosphate metabolism0.61
    1D-myo-inositol hexakisphosphate biosynthesis V (from Ins(1,3,4)P3)0.00
    Phosphatidylinositol signaling system0.61
    1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)0.00
    superpathway of inositol phosphate compounds0.60
    2Inositol phosphate metabolism (REACTOME)
    Inositol phosphate metabolism0.59
    Synthesis of pyrophosphates in the cytosol0.00
    Synthesis of IP3 and IP4 in the cytosol0.59
    D-myo-inositol (1,4,5,6)-tetrakisphosphate biosynthesis0.00
    D-myo-inositol (3,4,5,6)-tetrakisphosphate biosynthesis0.00
    3Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    4Hemostasis
    Hemostasis0.43
    5Factors involved in megakaryocyte development and platelet production
    Factors involved in megakaryocyte development and platelet production

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5 BioSystems Pathways for ITPK1
        1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)
    D-myo-inositol (1,4,5,6)-tetrakisphosphate biosynthesis
    D-myo-inositol (3,4,5,6)-tetrakisphosphate biosynthesis
    1D-myo-inositol hexakisphosphate biosynthesis V (from Ins(1,3,4)P3)
    superpathway of inositol phosphate compounds

    3 Reactome Pathways for ITPK1
        Factors involved in megakaryocyte development and platelet production
    Synthesis of pyrophosphates in the cytosol
    Synthesis of IP3 and IP4 in the cytosol


    3 Kegg Pathways  (Kegg details for ITPK1):
        Inositol phosphate metabolism
    Metabolic pathways
    Phosphatidylinositol signaling system


    ITPK1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ITPK1
    Interactions:

        GeneGlobe Interaction Network for ITPK1

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

    Selected Interacting proteins for ITPK1 (Q135722, 3 ENSP000002676154) via UniProtKB, MINT, STRING, and/or I2D (see all 578)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRAF2Q129333, ENSP000002476684I2D: score=5 STRING: ENSP00000247668
    COPS8Q996273, ENSP000003463404I2D: score=2 STRING: ENSP00000346340
    GPS1Q130983, ENSP000003472514I2D: score=1 STRING: ENSP00000347251
    CDC5LQ994592, ENSP000003605324MINT-7947479 STRING: ENSP00000360532
    COPS5Q929052, ENSP000003505124MINT-7947479 STRING: ENSP00000350512
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction TAS8662638
    GO:0007596blood coagulation TAS--
    GO:0016311dephosphorylation TAS--
    GO:0032957inositol trisphosphate metabolic process IEA--
    GO:0043647inositol phosphate metabolic process TAS--

    ITPK1 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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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ITPK1

    9 HMDB Compounds for ITPK1    About this table
    CompoundSynonyms CAS #PubMed Ids
    1D-Myo-inositol 1,3,4,6-tetrakisphosphate1D-Myo-inositol 1,3,4,6-tetrakisphosphate (see all 6)110298-84-5--
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    D-Myo-inositol 3,4,5,6-tetrakisphosphate1D-myo-Inositol 3,4,5,6-tetrakisphosphate (see all 4)112791-61-4--
    Inositol 1,3,4,5,6-pentakisphosphate1D-myo-Inositol 1,3,4,5,6-pentakisphosphate (see all 5)20298-95-7--
    Inositol 1,3,4,5-tetraphosphate1,3,4,5-tetrakis(dihydrogen phosphate) myo-Inositol (see all 16)102850-29-3--
    Inositol 1,3,4-trisphosphate1,3,4-Itp (see all 8)98102-63-7--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Tetrahydropteridine5,6,7,8-Tetrahydropteridine (see all 4)10593-78-9--



    (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,
    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 ITPK1 gene (3 alternative transcripts): 
    NM_001142593.1  NM_001142594.1  NM_014216.4  

    Unigene Cluster for ITPK1:

    Inositol-tetrakisphosphate 1-kinase
    Hs.308122  [show with all ESTs]
    Unigene Representative Sequence: NM_014216
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000267615(uc001ybf.3 uc001ybg.3) ENST00000354313(uc001ybe.2)
    ENST00000556603(uc001ybh.3) ENST00000555495 ENST00000556954 ENST00000553695
    ENST00000554999 ENST00000556185 ENST00000555553 ENST00000553452 ENST00000557309
    ENST00000553655
    miRNA
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    Block miRNA regulation of human, mouse, rat ITPK1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ITPK1 (see all 38):
    hsa-miR-330-5p hsa-miR-199a-3p hsa-miR-301a hsa-miR-30d hsa-miR-548m hsa-miR-1244 hsa-miR-30a hsa-miR-326
    SwitchGear 3'UTR luciferase reporter plasmidITPK1 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): ITPK1 (NM_001142593)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ITPK1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ITPK1
    Primer
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    OriGene qPCR primer pairs and template standards for ITPK1
    OriGene qSTAR qPCR primer pairs in human, mouse for ITPK1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ITPK1
      QuantiTect SYBR Green Assays in human, mouse, rat ITPK1
      QuantiFast Probe-based Assays in human, mouse, rat ITPK1

    Additional mRNA sequence: 

    AF279372.1 AK293515.1 AY129028.1 BC003622.2 BC007428.2 BC018192.1 BC037305.2 U51336.1 

    17 DOTS entries:

    DT.100668958  DT.97808493  DT.448043  DT.95158609  DT.100811893  DT.100811890  DT.100763224  DT.100811891 
    DT.70103261  DT.92443694  DT.100811895  DT.91785687  DT.91882783  DT.95158614  DT.95158615  DT.97797058 
    DT.91699787 

    Selected AceView cDNA sequences (see all 440):

    AI089217 AA991251 CD366404 T16197 AW572250 AI139976 BQ948259 BQ952284 
    AW161893 BE732545 CR601388 BM744094 AA707828 BF449038 BX391369 AI700178 
    BF530636 AW247009 T33912 AI436221 AW732261 AW250802 BQ955401 BU528768 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for ITPK1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
    SP1:                    -                                       
    SP2:                                                            


    ECgene alternative splicing isoforms for ITPK1

    (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)
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    ITPK1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGCTCAAGT
    ITPK1 Expression
    About this image


    ITPK1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Colon (Gastrointestinal Tract)
     
     Uterus (Reproductive System)
    ITPK1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ITPK1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.308122

    UniProtKB/Swiss-Prot: ITPK1_HUMAN, Q13572
    Tissue specificity: Expressed in brain > heart > skeletal muscle = kidney = pancreas = liver = placenta > lung. In
    brain, it is expressed in cerebellum, cerebral cortex, medulla, spinal cord, occipital lobe, frontal lobe,
    temporal lobe and putamen

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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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ITPK1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Itpk11 , 5 inositol 1,3,4-triphosphate 5/6 kinase1, 5 88.24(n)1
    93.96(a)1
      12 (51.69 cM)5
    2178371  NM_172584.31  NP_766172.11 
     1025685825 
    chicken
    (Gallus gallus)
    Aves ITPK11 inositol-tetrakisphosphate 1-kinase 77.64(n)
    84.28(a)
      423421  NM_001012588.1  NP_001012606.1 
    lizard
    (Anolis carolinensis)
    Reptilia ITPK16
    inositol-tetrakisphosphate 1-kinase
    82(a)
    1 ↔ 1
    1(10957020-11114968)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC054977.12   -- 79.38(n)    BC054977.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC050497.12   -- 76.57(n)    BC050497.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G337701 AT4G33770 42.82(n)
    33.9(a)
      829519  NM_119535.4  NP_195103.3 


    ENSEMBL Gene Tree for ITPK1 (if available)
    TreeFam Gene Tree for ITPK1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ITPK1 gene

    ITPK1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ITPK1
    PGOHUM00000241269


    (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 ITPK1 (see all 3623)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs611957601,2
    C--73722950(+) AAAAA-/A/AAAAA/
    AAAAAAAAAAA
    GGAAG
    1 -- int11NA 2
    rs1819032221,2
    --93402762(+) CGCAGG/TCTGCC 1 -- int10--------
    rs1860709891,2
    C--93402774(+) ACGTGA/GTGTCT 1 -- int10--------
    rs1171591881,2
    F--93402836(+) GGCATC/TGCTGC 1 -- int11Minor allele frequency- T:0.03NA 120
    rs1115740601,2
    C,F--93402915(+) GCTCTG/TCCTGG 1 -- int11Minor allele frequency- T:0.50NA 2
    rs759238271,2
    F--93402967(+) TGGACC/TTAAGA 1 -- int11Minor allele frequency- T:0.33NA 6
    rs556428091,2
    C,F--93403003(+) CATTAA/CTGAGC 1 -- int12Minor allele frequency- C:0.19NA EA 240
    rs602031851,2
    C--93403025(+) GGCAGG/TCGCTC 1 -- int10--------
    rs1150635151,2
    C,F--93403027(+) CAGGCG/ACTCCT 1 -- int11Minor allele frequency- A:0.02WA 118
    rs1895387111,2
    --93403057(+) TTTCCC/TCATCT 1 -- int10--------

    HapMap Linkage Disequilibrium report for ITPK1 (93403259 - 93582665 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ITPK1 (see all 18):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2674911CNV Deletion23128226
    nsv1402CNV Insertion18451855
    nsv902204CNV Loss21882294
    nsv902201CNV Loss21882294
    nsv1400CNV Loss18451855
    nsv1401CNV Loss18451855
    nsv456401CNV Loss19166990
    nsv902203CNV Loss21882294
    nsv902202CNV Loss21882294
    nsv470656CNV Loss18288195

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601838    OMIM disorders: --

    6 diseases for ITPK1:    
    About MalaCards
    neural tube defects    endometriosis    kidney disease    cerebritis
    hypertension    thyroiditis


    ITPK1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ITPK1
    Human Genome Epidemiology (HuGE) Navigator: ITPK1 (4 documents)

    Export disorders for ITPK1 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 ITPK1 gene, integrated from 10 sources (see all 30):
    (articles sorted by number of sources associating them with ITPK1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Multitasking in signal transduction by a promiscuous human Ins(3,4,5,6)P(4) 1-kinase/Ins(1,3,4)P(3) 5/6-kinase. (PubMed id 11042108)1, 2, 3 Yang X. and Shears S.B. (Biochem. J. 2000)
    2. Isolation of inositol 1,3,4-trisphosphate 5/6-kinase, cDNA cloning and expression of the recombinant enzyme. (PubMed id 8662638)1, 2, 3 Wilson M.P. and Majerus P.W. (J. Biol. Chem. 1996)
    3. Integration of inositol phosphate signaling pathways via human ITPK1. (PubMed id 17616525)1, 2, 9 Chamberlain P.P.... Spraggon G. (J. Biol. Chem. 2007)
    4. Regulation of inositol 1,3,4-trisphosphate 5/6-kinase (ITPK1) by reversible lysine acetylation. (PubMed id 22308441)1, 2 Zhang C.... Wilson M.P. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    5. New gene functions in megakaryopoiesis and platelet formation. (PubMed id 22139419)1, 4 Gieger C....Soranzo N. (Nature 2011)
    6. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (Am. J. Hypertens. 2010)
    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. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2010)
    9. Association of gene polymorphisms with chronic kidney disease in Japanese individuals. (PubMed id 19724895)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2009)
    10. The Ins(1,3,4)P3 5/6-kinase/Ins(3,4,5,6)P4 1-kinase is not a protein kinase. (PubMed id 15762844)1, 2 Qian X....Shears S.B. (Biochem. J. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 3705 HGNC: 6177 AceView: ITPK1 Ensembl:ENSG00000100605 euGenes: HUgn3705
    ECgene: ITPK1 Kegg: 3705 H-InvDB: ITPK1

    (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 ITPK1 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 ITPK1 gene:
    Search GeneIP for patents involving ITPK1

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



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