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

ITPKA Gene

protein-coding   GIFtS: 63
GCID: GC15P041786

Inositol-Trisphosphate 3-Kinase A

(Previous name: inositol 1,4,5-trisphosphate 3-kinase A)
  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)
About This Section

Aliases
Inositol-Trisphosphate 3-Kinase A1 2     IP3K A2 3
Inositol 1,4,5-Trisphosphate 3-Kinase A1 2 3     EC 2.7.1.1273 8
InsP 3-Kinase A2 3     IP3-3KA2
IP3 3-Kinase A2 3     IP3KA2

External Ids:    HGNC: 61781   Entrez Gene: 37062   Ensembl: ENSG000001378257   OMIM: 1475215   UniProtKB: P236773   

Export aliases for ITPKA gene to outside databases

Previous GC identifers: GC15P037153 GC15P034681 GC15P039364 GC15P039502 GC15P039573 GC15P018634


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

Entrez Gene summary for ITPKA Gene:
Regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to
Ins(1,3,4,5)P4. The activity of the inositol 1,4,5-trisphosphate 3-kinase is responsible for regulating the
levels of a large number of inositol polyphosphates that are important in cellular signaling. Both
calcium/calmodulin and protein phosphorylation mechanisms control its activity. It is also a substrate for the
cyclic AMP-dependent protein kinase, calcium/calmodulin- dependent protein kinase II, and protein kinase C in
vitro.(provided by RefSeq, Apr 2011)

GeneCards Summary for ITPKA Gene: 
ITPKA (inositol-trisphosphate 3-kinase A) is a protein-coding gene. Diseases associated with ITPKA include oral squamous cell carcinoma, and squamous cell carcinoma, and among its related super-pathways are Phosphatidylinositol signaling system and Metabolic pathways. GO annotations related to this gene include inositol-1,4,5-trisphosphate 3-kinase activity and calmodulin binding. An important paralog of this gene is ITPKB.

Gene Wiki entry for ITPKA Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NT_010194.17  NC_018926.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ITPKA gene promoter:
         c-Fos   Bach2   HTF   c-Myb   IRF-7A   c-Jun   POU3F2   AP-2gamma   RORalpha2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for ITPKA

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


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

Entrez Gene cytogenetic band: 15q15.1   Ensembl cytogenetic band:  15q15.1   HGNC cytogenetic band: 15q15.1

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

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P041786:  view genomic region     (about GC identifiers)

Start:
41,785,591 bp from pter      End:
41,795,757 bp from pter
Size:
10,167 bases      Orientation:
plus strand

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

UniProtKB/Swiss-Prot: IP3KA_HUMAN, P23677 (See protein sequence)
Recommended Name: Inositol-trisphosphate 3-kinase A  
Size: 461 amino acids; 51009 Da
3 PDB 3D structures from and Proteopedia for ITPKA:
1W2C (3D)        1W2D (3D)        1W2F (3D)    
Secondary accessions: Q8TAN3

Explore the universe of human proteins at neXtProt for ITPKA: NX_P23677

Explore proteomics data for ITPKA at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P23677

  • 4/6 DME Specific Peptides for ITPKA (P23677) (see all 6)
     EGNREDGYL  IDFGKTTPLP  HEVIGSSLLF  VDPEAPTEEE 

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

    ITPKA Protein Expression
    REFSEQ proteins: NP_002211.1  
    ENSEMBL proteins: 
     ENSP00000396560   ENSP00000260386  
    Reactome Protein details: P23677
    Human Recombinant Protein Products for ITPKA: 
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for ITPKA
    OriGene Protein Over-expression Lysate for ITPKA
    OriGene MassSpec for ITPKA 
    OriGene Custom Protein Services for ITPKA
    GenScript Custom Purified and Recombinant Proteins Services for ITPKA
    Novus Biologicals ITPKA Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ITPKA 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

    ITPKA for ontologies           About GeneDecksing



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    LSBio Antibodies in human, mouse, rat for ITPKA 

    Assay Products for ITPKA: 
    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for ITPKA 
    Cloud-Clone Corp. CLIAs for ITPKA


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: IP3 kinase A 
    Inositol 1,4,5-trisphosphate 3-kinases

    1 InterPro protein domain:
     IPR005522 IPK

    Graphical View of Domain Structure for InterPro Entry P23677

    ProtoNet protein and cluster: P23677

    1 Blocks protein domain: IPB005522 Inositol polyphosphate kinase

    UniProtKB/Swiss-Prot: IP3KA_HUMAN, P23677
    Similarity: Belongs to the inositol phosphokinase (IPK) family


    ITPKA for domains           About GeneDecksing


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IP3KA_HUMAN, P23677
    Catalytic activity: ATP + 1D-myo-inositol 1,4,5-trisphosphate = ADP + 1D-myo-inositol 1,3,4,5-tetrakisphosphate
    Enzyme regulation: IP3K is activated by calmodulin

         Genatlas biochemistry entry for ITPKA:
    inositol 1,4,5-triphosphate 3 kinase-A

         Enzyme Number (IUBMB): EC 2.7.1.1271 2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004683calmodulin-dependent protein kinase activity IEA--
    GO:0005516calmodulin binding IEA--
    GO:0005524ATP binding IEA--
    GO:0008440inositol-1,4,5-trisphosphate 3-kinase activity IEA--
         
    ITPKA for ontologies           About GeneDecksing


    Phenotypes:
         6 GenomeRNAi human phenotypes for ITPKA:
     Decreased CYP1A1 activity afte  Decreased POU5F1-GFP protein e  Decreased Tat-dependent transc  Decreased focal adhesion (FA)  
     Decreased p24 protein expressi  Lamellipodia cells 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Itpka):
     nervous system 

    ITPKA for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Itpkatm1Hssh for ITPKA

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

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

    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate ITPKA:
    hsa-miR-3202 hsa-miR-3915 hsa-miR-1286
    SwitchGear 3'UTR luciferase reporter plasmidITPKA 3' UTR sequence
    Inhib. RNA
    Products:
        
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ITPKA About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Inositol phosphate metabolism
    Inositol phosphate metabolism0.61
    superpathway of inositol phosphate compounds0.60
    Phosphatidylinositol signaling system0.61
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3D-myo-inositol (1,3,4)-trisphosphate biosynthesis
    D-myo-inositol (1,3,4)-trisphosphate biosynthesis0.76
    superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism0.75
    1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)0.76
    4Synthesis of IP3 and IP4 in the cytosol
    Synthesis of IP3 and IP4 in the cytosol0.57
    Inositol phosphate metabolism0.57
    5Calcium signaling pathway
    Calcium signaling pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for ITPKA
        1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)
    D-myo-inositol (1,3,4)-trisphosphate biosynthesis
    superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism
    superpathway of inositol phosphate compounds

    3        Reactome Pathways for ITPKA
        Metabolism
    Inositol phosphate metabolism
    Synthesis of IP3 and IP4 in the cytosol


    4         Kegg Pathways  (Kegg details for ITPKA):
        Inositol phosphate metabolism
    Metabolic pathways
    Calcium signaling pathway
    Phosphatidylinositol signaling system


    ITPKA for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ITPKA

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

    5/43 Interacting proteins for ITPKA (P236773 ENSP000002603864) via UniProtKB, MINT, STRING, and/or I2D (see all 43)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583, ENSP000003494674I2D: score=1 STRING: ENSP00000349467
    CALM2P621583I2D: score=1 
    CALM3P621583I2D: score=1 
    CAMK2BQ135543, ENSP000002586824I2D: score=1 STRING: ENSP00000258682
    GRIN1Q055863, ENSP000003606164I2D: score=1 STRING: ENSP00000360616
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006020inositol metabolic process IEA--
    GO:0007165signal transduction TAS1847047
    GO:0043647inositol phosphate metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--
    GO:0048167regulation of synaptic plasticity IEA--

    ITPKA for ontologies           About GeneDecksing



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

    ITPKA for compounds           About GeneDecksing

    EMD Millipore small molecules for ITPKA:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ITPKA (IP3KA)

    5 HMDB Compounds for ITPKA    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    CalciumCa (see all 2)7440-70-2--
    Inositol 1,3,4,5-tetraphosphate1,3,4,5-tetrakis(dihydrogen phosphate) myo-Inositol (see all 16)102850-29-3--
    Inositol 1,4,5-trisphosphate1D-myo-Inositol 1,4,5-trisphosphate (see all 4)88269-39-0--

    4 DrugBank Compounds for ITPKA    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Adenosine-5'-Diphosphate-- 20398-34-9target--17139284 17016423 10592235
    D-Myo-Inositol-1,4,5-Triphosphate-- --target--17139284 17016423
    Inositol 1,3,4,5-Tetrakisphosphate-- --target--17139284 17016423
    Phosphoaminophosphonic Acid-Adenylate Ester-- --target--17139284 17016423

    3 Novoseek inferred chemical compound relationships for ITPKA gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    inositol 1,4,5 trisphosphate 75.9 13 16525636 (3), 9374536 (1), 19846664 (1), 15659385 (1) (see all 7)
    inositol 51.2 1 15659385 (1)
    calcium 30 7 16525636 (2)

    Search CenterWatch for drugs/clinical trials and news about ITPKA / IP3KA

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

    REFSEQ mRNAs for ITPKA gene: 
    NM_002220.2  

    Unigene Cluster for ITPKA:

    Inositol-trisphosphate 3-kinase A
    Hs.2722  [show with all ESTs]
    Unigene Representative Sequence: NM_002220
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000425927 ENST00000260386(uc001znz.3) ENST00000462816 ENST00000491007

    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate ITPKA:
    hsa-miR-3202 hsa-miR-3915 hsa-miR-1286
    SwitchGear 3'UTR luciferase reporter plasmidITPKA 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ITPKA

    Additional mRNA sequence: 

    BC026331.1 X54938.1 

    2 DOTS entries:

    DT.410493  DT.99968265 

    24/41 AceView cDNA sequences (see all 41):

    BQ082539 BM746706 AI368661 BM783182 CA432343 AI381043 BM785071 BU158841 
    BG060106 BQ018173 NM_002220 BG257136 BX283338 BQ082536 BF064030 BE901554 
    BG479031 X54938 BC026331 F04222 AI831567 BI223560 BG772539 T16315 

    GeneLoc Exon Structure


    (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

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


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

    SOURCE GeneReport for Unigene cluster: Hs.2722
        SABiosciences Custom PCR Arrays for ITPKA
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ITPKA

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

    This gene was present in the common ancestor of animals.

    Orthologs for ITPKA gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Itpka1 , 5 inositol 1,4,5-trisphosphate 3-kinase A1, 5 87.94(n)1
    93.68(a)1
      2 (59.97 cM)5
    2285501  NM_146125.21  NP_666237.11 
     1197423375 
    chicken
    (Gallus gallus)
    Aves ITPKA1 inositol 1,4,5-trisphosphate 3-kinase A 66.67(n)
    67.5(a)
      395694  NM_204881.1  NP_990212.1 
    lizard
    (Anolis carolinensis)
    Reptilia ITPKA6
    --
    Uncharacterized protein
    74(a)
    54(a)
    1 ↔ 1
    possible ortholog
    1(41587915-41603317)
    GL345126.1(1509-8192)
    zebrafish
    (Danio rerio)
    Actinopterygii wufi30c012 wufi30c01 69.75(n)   334077  AI545823.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta IP3K21 , 3 1D-myo-inositol-trisphosphate 3-kinase3
    Inositol 1,4,5-triphosphate kinase 21
    59(a)
    (best of 2)3
    56.26(n)1
    52.88(a)1
      11E113
    322851  NM_132647.11  NP_572875.11 
    worm
    (Caenorhabditis elegans)
    Secernentea lfe-23 Expression: alimentary system,
    intestine, pharynx, more
    41(a)   I(5027212-5040766)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ITPKA gene
    ITPKB2  ITPKC2  
    3 SIMAP similar genes for ITPKA using alignment to 2 protein entries:     IP3KA_HUMAN (see all proteins):
    PIG37    ITPKB    ITPKC

    ITPKA for paralogs           About GeneDecksing



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

    10/185 SNPs in ITPKA are shown (see all 185)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1445898291,2
    --41784165(+) TCAAGC/TATTCA 1 -- us2k10--------
    rs1810429131,2
    --41784229(+) CCTCTC/GTCATT 1 -- us2k10--------
    rs1484909231,2
    --41784336(+) CTGCAA/GTGCAG 1 -- us2k10--------
    rs1426126571,2
    C--41784355(+) CATGGC/GTCTCT 1 -- us2k10--------
    rs17574621,2
    C,A,H--41784441(-) CTGAGC/TGTGGT 1 -- us2k12Minor allele frequency- T:0.00NA 4
    rs1171783861,2
    C,F--41784710(+) CCTGGG/AATCAA 1 -- us2k11Minor allele frequency- A:0.04EA 120
    rs1147028681,2
    F--41784738(+) CCCTCC/GCAAAG 1 -- us2k11Minor allele frequency- G:0.06WA 118
    rs1860789141,2
    --41784746(+) AAGTGC/TTGGGG 1 -- us2k10--------
    rs129080621,2
    C,F,H--41784809(+) CCTTCC/TTCTTT 1 -- us2k1 trp317Minor allele frequency- T:0.00NS EA NA WA CSA 863
    rs1416028311,2
    --41784942(+) CATCCC/TCAGAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ITPKA (41785591 - 41795757 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ITPKA:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv2362n71CNV Loss21882294
    nsv524476CNV Loss19592680
    nsv471241CNV Loss18288195
    esv33378CNV Gain17666407

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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.)
    About This Section
    OMIM gene information: 147521    OMIM disorders: --

    3 diseases for ITPKA:    About MalaCards
    oral squamous cell carcinoma    squamous cell carcinoma    neuronitis


    ITPKA for disorders           About GeneDecksing

    Genetic Association Database (GAD): ITPKA
    Human Genome Epidemiology (HuGE) Navigator: ITPKA (1 document)

    Export disorders for ITPKA 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 ITPKA gene, integrated from 9 sources (see all 29):
    (articles sorted by number of sources associating them with ITPKA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human brain inositol 1,4,5-trisphosphate 3-kinase cDNA sequence. (PubMed id 2175886)1, 2, 3 Takazawa K.... Erneux C. (1990)
    2. Localization of the genes for human inositol 1,4,5-tr isphosphate 3-kinase A (ITPKA) and B (ITPKB) to chromosome regions 15q14-q21 an d 1q41-q43, respectively, by in situ hybridization. (PubMed id 1330886)1, 3, 9 Erneux C....Mattei M.G. (1992)
    3. Structure of a human inositol 1,4,5-trisphosphate 3-kinase: substrate binding reveals why it is not a phosphoinositide 3-kinase. (PubMed id 15350214)1, 2 Gonzalez B....Williams R.L. (2004)
    4. 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)
    5. Molecular cloning and expression of a human brain inositol 1,4,5- trisphosphate 3-kinase. (PubMed id 1847047)1, 2 Takazawa K.... Erneux C. (1991)
    6. Down-regulation of 1D-myo-inositol 1,4,5-trisphosphate 3-kinase A protein expression in oral squamous cell carcinoma. (PubMed id 16525636)1, 9 Kato H....Tanzawa H. (2006)
    7. Inositol 1,4,5-trisphosphate 3-kinase-A is a new cell motility-promoting protein that increases the metastatic potential of tumor ce lls by two functional activities. (PubMed id 20022963)1, 9 Windhorst S....Mayr G.W. (2010)
    8. Inositol 1,4,5-trisphosphate 3-kinase A associates with F-actin and dendritic spines via its N terminus. (PubMed id 11468283)1, 9 Schell M.J....Irvine R.F. (2001)
    9. Expression, purification, and regulation of two isoforms of the inositol 1,4,5-trisphosphate 3-kinase. (PubMed id 9374536)1, 9 Woodring P.J. and Garrison J.C. (1997)
    10. Intersectin (ITSN) family of scaffolds function as mol ecular hubs in protein interaction networks. (PubMed id 22558309)1 Wong K.A....O'Bryan J.P. (2012)

    (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: 3706 HGNC: 6178 AceView: ITPKA Ensembl:ENSG00000137825 euGenes: HUgn3706
    ECgene: ITPKA Kegg: 3706 H-InvDB: ITPKA

    (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 ITPKA 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 ITPKA gene:
    Search GeneIP for patents involving ITPKA

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



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    About This Section

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