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

ITPK1 Gene

protein-coding   GIFtS: 59
GCID: GC14M093403

inositol-tetrakisphosphate 1-kinase

(Previous name: inositol 1,3,4-triphosphate 5/6 kinase )
 Explore 3 diseases affiliated with
ITPK1 via our new
 Human Malady Compendium 
Biological research products
for ITPK1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

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

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ITPK1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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

Post-translational modifications:

  • Acetylation by EP300 and CREBBP destabilizes ITPK1, and down-regulates enzymatic activity. Deacetylated by SIRT11
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q13572

  • ITPK1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000346272   ENSP00000451091   ENSP00000451893   ENSP00000267615   ENSP00000451154  
     ENSP00000451323   ENSP00000452258   ENSP00000452230   ENSP00000450421  
    Reactome Protein details: Q13572
    Human Recombinant Protein Products: 
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    Uscn Proteins for ITPK1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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


    ITPK1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ITPK1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR008656 Inositol_tetrakis-P_1-kinase
     IPR011761 ATP-grasp

    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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
    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

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    Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IEA--
    GO:0003824catalytic activity TAS8662638
    GO:0005524ATP binding IEA--
    GO:0016787hydrolase activity IEA--
    GO:0016853isomerase activity IEA--


    ITPK1 for ontologies           About GeneDecksing


    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 

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

    ITPK1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/8 super-pathways (see all 8About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1D-myo-inositol (3,4,5,6)-tetrakisphosphate biosynthesis
    D-myo-inositol (3,4,5,6)-tetrakisphosphate biosynthesis1.00
    1D-myo-inositol hexakisphosphate biosynthesis V (from Ins(1,3,4)P3)0.67
    D-myo-inositol (1,4,5,6)-tetrakisphosphate biosynthesis0.67
    2Inositol phosphate metabolism
    Inositol phosphate metabolism1.00
    Phosphatidylinositol signaling system0.59
    superpathway of inositol phosphate compounds0.59
    3Metabolism
    Metabolism1.00
    Metabolic pathways0.38
    4Synthesis of IP3 and IP4 in the cytosol
    Synthesis of IP3 and IP4 in the cytosol1.00
    Inositol phosphate metabolism0.57
    5Factors involved in megakaryocyte development and platelet production
    Factors involved in megakaryocyte development and platelet production1.00

    Pathway sources
    See GeneCards unified pathways
    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

    5/6        Reactome Pathways for ITPK1 (see all 6)
        Hemostasis
    Factors involved in megakaryocyte development and platelet production
    Metabolism
    Synthesis of pyrophosphates in the cytosol
    Inositol phosphate metabolism


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


    ITPK1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ITPK1

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

    5/551 Interacting proteins for ITPK1 (Q135722, 3 ENSP000002676154) via UniProtKB, MINT, STRING, and/or I2D (see all 551)
    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
    ABCF1Q8NE712MINT-7947479
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction TAS8662638
    GO:0007596blood coagulation TAS--
    GO:0008152metabolic process ----
    GO:0032957inositol trisphosphate metabolic process IEA--


    ITPK1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--
    Search CenterWatch for drugs/clinical trials and news about ITPK1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    About This Section

    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:
    ENST00000354313(uc001ybe.2) ENST00000556603(uc001ybh.3) ENST00000555495
    ENST00000267615(uc001ybf.3 uc001ybg.3) ENST00000556954 ENST00000553695
    ENST00000554999 ENST00000556185 ENST00000555553 ENST00000553452 ENST00000557309
    ENST00000553655

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    Additional cDNA 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 

    24/440 AceView cDNA sequences (see all 440):

    F11090 BQ948259 AI924938 AI700178 BU178327 BQ947907 AI983606 AI342749 
    AW250802 BE855745 NM_014216 CR594461 AI421303 AI674269 BU956956 AL119879 
    Z38974 AI919485 AA402726 BI861566 BU521724 BM471100 AW002263 BE732545 

    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™, 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

    ITPK1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTGCTCAAGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    ITPK1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainCerebral CortexBrain
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ITPK1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ITPK1

    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ITPK1 gene from 8/24 species (see all 24)    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
    --
    80(a)
    1 ↔ 1
    1(11060170-11114968)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC054977.12   -- 79.38(n)    BC054977.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC050497.12   -- 76.57(n)    BC050497.1 
    honey bee
    (Apis mellifera)
    Insecta --
    --
    36(a)
    1 ↔ 1
    GroupUn.70(149476-151147)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G337701 inositol-tetrakisphosphate 1-kinase 3 42.6(n)
    33.56(a)
      829519  NM_119535.4  NP_195103.3 
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 6)
    Inositol 1, 3, 4-trisphosphate 5/6-kinase, putativ...
    Inositol 1, 3, 4-trisphosphate 5/6-kinase, putativ...
    (see all 6)
    28(a)
    27(a)
    (see all 6)
    many → 1
    many → 1
    (see all 6)
    10(300771-307113)
    3(29529011-29536314)


    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)
    About This Section
    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, UniProtKB, 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

    10/3032 NCBI SNPs in ITPK1 are shown (see all 3032    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs355315781,2
    C,--73654736(+) GGGGG-/GAAACT 1 -- int11Minor allele frequency- G:0.00NA 2
    rs1819032221,2
    --93402762(+) CGCAGG/TCTGCC 1 -- int10--------
    rs1860709891,2
    --93402774(+) ACGTGA/GTGTCT 1 -- int10--------
    rs1171591881,2
    F,--93402836(+) GGCATC/TGCTGC 1 -- int11Minor allele frequency- T:0.03NA 120
    rs1115740601,2
    C,--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
    --93403025(+) GGCAGG/TCGCTC 1 -- int10--------
    rs1150635151,2
    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 (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 11 variations for ITPK1
         11 CNVs: 29958 29957 5765 49441 66695 71941 49442 49445 49444 29959 49443

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ITPK1 for disorders           About GeneDecksing

    OMIM gene information: 601838    OMIM disorders: --

    3 diseases for ITPK1:    About MalaCards
    neural tube defect    kidney disease    cerebritis

    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)
    About This Section

    PubMed articles for ITPK1 gene, integrated from 9 sources (see all 23):
    (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. (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. (1996)
    3. Integration of inositol phosphate signaling pathways via human ITPK1. (PubMed id 17616525)1, 2, 9 Chamberlain P.P.... Spraggon G. (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. (2012)
    5. 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. (2005)
    6. Specificity determinants in inositol polyphosphate synthesis: crystal structure of inositol 1,3,4-trisphosphate 5/6-kinase. (PubMed id 15837423)1, 2 Miller G.J.... Hurley J.H. (2005)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Inositol 1,3,4-trisphosphate 5/6-kinase inhibits tumor necrosis factor-induced apoptosis. (PubMed id 12925536)1, 2 Sun Y.... Majerus P.W. (2003)
    9. Inositol 1,3,4-trisphosphate 5/6-kinase associates with the COP9 signalosome by binding to CSN1. (PubMed id 12324474)1, 2 Sun Y.... Majerus P.W. (2002)
    10. Regulation of Ins(3,4,5,6)P(4) signaling by a reversible kinase/phosphatase. (PubMed id 11909533)1, 2 Ho M.W.Y....Shears S.B. (2002)

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

    (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 ITPK1 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 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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