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IP6K1 Gene

protein-coding   GIFtS: 61
GCID: GC03M049761

Inositol Hexakisphosphate Kinase 1

(Previous name: inositol hexaphosphate kinase 1)
(Previous symbol: IHPK1)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Inositol Hexakisphosphate Kinase 11 2     KIAA02633 5
IHPK11 2 3 5     PiUS2
Inositol Hexaphosphate Kinase 11 2 3     ATP:1D-Myo-Inositol-Hexakisphosphate Phosphotransferase2
InsP6 Kinase 12 3     Pi Uptake Stimulator2
EC 2.7.4.213 8     

External Ids:    HGNC: 183601   Entrez Gene: 98072   Ensembl: ENSG000001760957   OMIM: 6069915   UniProtKB: Q925513   

Export aliases for IP6K1 gene to outside databases

Previous GC identifer: GC03M049737


(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 IP6K1 Gene:
This gene encodes a member of the inositol phosphokinase family. The encoded protein may be responsible for the
conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may
also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternatively spliced transcript variants have been
described. (provided by RefSeq, Jun 2011)

GeneCards Summary for IP6K1 Gene:
IP6K1 (inositol hexakisphosphate kinase 1) is a protein-coding gene. GO annotations related to this gene include inositol hexakisphosphate 1-kinase activity and inositol-1,4,5-trisphosphate 3-kinase activity. An important paralog of this gene is IP6K3.

UniProtKB/Swiss-Prot: IP6K1_HUMAN, Q92551
Function: Converts inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5).
Converts 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4

Gene Wiki entry for IP6K1 (IHPK1) 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 at NCBI GenBank:
NC_000003.11  NC_018914.2  NT_022517.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the IP6K1 gene promoter:
         AhR   AREB6   GR   NF-1   NF-1/L   AML1a   HOXA5   GR-alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIP6K1 promoter sequence
   Search Chromatin IP Primers for IP6K1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IP6K1


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

Entrez Gene cytogenetic band: 3p21.31   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p21.31

IP6K1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IP6K1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M049761:  view genomic region     (about GC identifiers)

Start:
49,761,727 bp from pter      End:
49,823,975 bp from pter
Size:
62,249 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: IP6K1_HUMAN, Q92551 (See protein sequence)
Recommended Name: Inositol hexakisphosphate kinase 1  
Size: 441 amino acids; 50236 Da
Sequence caution: Sequence=BAA13393.2; Type=Erroneous initiation;
Secondary accessions: A8K157 A8MUX4 Q7L3I7 Q96E38
Alternative splicing: 2 isoforms:  Q92551-1   Q92551-2   

Explore the universe of human proteins at neXtProt for IP6K1: NX_Q92551

Explore proteomics data for IP6K1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for IP6K1 (Q92551) (see all 6)
     CGMQVYQ  FGLENLI  SYRFYSSS  LDLKMGTRQ 


    See IP6K1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001006115.1  NP_001229758.1  NP_695005.1  

    ENSEMBL proteins: 
     ENSP00000323780   ENSP00000420467   ENSP00000420762   ENSP00000378659  
    Reactome Protein details: Q92551

    IP6K1 Human Recombinant Protein Products:

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    Novus Biologicals IP6K1 Proteins
    Novus Biologicals IP6K1 Lysate
    Sino Biological Recombinant Protein for IP6K1
    Sino Biological Cell Lysate for IP6K1
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for IP6K1 

     
    antibodies-online proteins for IP6K1 (3 products) 

     
    antibodies-online peptides for IP6K1

    IP6K1 Antibody Products:

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    Abcam antibodies for IP6K1 (Q9UHH9, Q92551)
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    antibodies-online antibodies for IP6K1 (21 products) 

    IP6K1 Assay Products:

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    antibodies-online kits for IP6K1 (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR005522 IPK

    Graphical View of Domain Structure for InterPro Entry Q92551

    ProtoNet protein and cluster: Q92551

    UniProtKB/Swiss-Prot: IP6K1_HUMAN, Q92551
    Similarity: Belongs to the inositol phosphokinase (IPK) family


    Find genes that share domains with IP6K1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IP6K1_HUMAN, Q92551
    Function: Converts inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5).
    Converts 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4
    Catalytic activity: ATP + 1D-myo-inositol hexakisphosphate = ADP + 1D-myo-inositol 5-diphosphate
    1,2,3,4,6-pentakisphosphate
    Catalytic activity: ATP + 1D-myo-inositol 1-diphosphate 2,3,4,5,6-pentakisphosphate = ADP + 1D-myo-inositol
    1,5-bis(diphosphate) 2,3,4,6-tetrakisphosphate

         Enzyme Number (IUBMB): EC 2.7.4.211 2

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000832inositol hexakisphosphate 5-kinase activity IEA--
    GO:0005515protein binding ----
    GO:0005524ATP binding IEA--
    GO:0008440inositol-1,4,5-trisphosphate 3-kinase activity IEA--
    GO:0052723inositol hexakisphosphate 1-kinase activity IEA--
         
    Find genes that share ontologies with IP6K1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for IP6K1:
     Decreased TP53 protein express  Decreased viability 

         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Ip6k1):
     endocrine/exocrine gland  growth/size/body  homeostasis/metabolism  no phenotypic analysis  reproductive system 

    Find genes that share phenotypes with IP6K1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Ip6k1tm1.1Snyd for IP6K1

       genOway: Develop your customized and physiologically relevant rodent model for IP6K1

    miRNA
    Products:
        
    miRTarBase miRNAs that target IP6K1:
    hsa-mir-877-3p (MIRT036940), hsa-let-7c-5p (MIRT051729), hsa-mir-93-5p (MIRT048829), hsa-mir-744-5p (MIRT037697), hsa-mir-125b-5p (MIRT046105), hsa-mir-125a-5p (MIRT045778), hsa-let-7b-5p (MIRT051881)

    Block miRNA regulation of human, mouse, rat IP6K1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate IP6K1 (see all 76):
    hsa-miR-520e hsa-miR-1914* hsa-miR-106a hsa-miR-15a hsa-miR-3916 hsa-miR-877* hsa-miR-4325 hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidIP6K1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for IP6K1
    Predesigned siRNA for gene silencing in human, mouse, rat IP6K1

    Gene Editing
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): IP6K1 (NM_153273)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for IP6K1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IP6K1
    Addgene plasmids for IP6K1 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for IP6K1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IP6K1


    (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
    IP6K1_HUMAN, Q92551: Cytoplasm. Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--

    Find genes that share ontologies with IP6K1           About GenesLikeMe


    (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 IP6K1 About    
    See pathways by source

    SuperPathContained pathways About
    1Inositol phosphate metabolism (REACTOME)
    Inositol phosphate metabolism0.59
    inositol pyrophosphates biosynthesis0.00
    Synthesis of IPs in the nucleus0.00
    Synthesis of pyrophosphates in the cytosol0.00
    2Inositol phosphate metabolism (KEGG)
    superpathway of inositol phosphate compounds0.60
    3Metabolism
    Metabolism0.38


    Find genes that share SuperPaths with IP6K1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for IP6K1
        inositol pyrophosphates biosynthesis
    superpathway of inositol phosphate compounds


    2 Reactome Pathways for IP6K1
        Synthesis of IPs in the nucleus
    Synthesis of pyrophosphates in the cytosol


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for IP6K1
    Interactions:

        Search GeneGlobe Interaction Network for IP6K1

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

    Selected Interacting proteins for IP6K1 (Q925512, 3 ENSP000003237804) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EXOSC7Q150242, 3, ENSP000002655644MINT-68319 I2D: score=5 STRING: ENSP00000265564
    RAC1P630003I2D: score=2 
    CACNA1AO005553I2D: score=1 
    RAB3IL1Q8TBN03I2D: score=1 
    IP6K2ENSP000003311034STRING: ENSP00000331103
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0043647inositol phosphate metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--
    GO:0046854phosphatidylinositol phosphorylation IDA10574768

    Find genes that share ontologies with IP6K1           About GenesLikeMe



    (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 IP6K1

    4 HMDB Compounds for IP6K1    About this table
    CompoundSynonyms CAS #PubMed Ids
    1-Diphosinositol pentakisphosphateD-myo-Inositol, 2,3,4,5,6-pentakis(dihydrogen phosphate);1-(trihydrogen diphosphate);Diphospho-myo-inositol pentakisphosphate 148077-18-3--
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Myo-inositol hexakisphosphate1D-myo-Inositol 1,2,3,4,5,6-hexakisphosphate (see all 9)83-86-3--



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for IP6K1 gene (3 alternative transcripts): 
    NM_001006115.2  NM_001242829.1  NM_153273.3  

    Unigene Cluster for IP6K1:

    Inositol hexakisphosphate kinase 1
    Hs.386168  [show with all ESTs]
    Unigene Representative Sequence: NM_001242829
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000321599(uc021wyl.1 uc003cxm.1) ENST00000468463 ENST00000460540
    ENST00000495798 ENST00000479464 ENST00000498149 ENST00000495152 ENST00000395238(uc003cxn.1)

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate IP6K1 (see all 76):
    hsa-miR-520e hsa-miR-1914* hsa-miR-106a hsa-miR-15a hsa-miR-3916 hsa-miR-877* hsa-miR-4325 hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidIP6K1 3' UTR sequence
    Inhib. RNA
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    Addgene plasmids for IP6K1 
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat IP6K1
      QuantiTect SYBR Green Assays in human, mouse, rat IP6K1
      QuantiFast Probe-based Assays in human, mouse, rat IP6K1

    Additional mRNA sequence: 

    AK289772.1 AK295689.1 BC012944.1 D87452.2 

    16 DOTS entries:

    DT.97778259  DT.100878952  DT.101960741  DT.453759  DT.95098069  DT.100878935  DT.120904655  DT.91768143 
    DT.100038893  DT.97770486  DT.120904471  DT.100878930  DT.101983272  DT.95098071  DT.95227742  DT.99978869 

    Selected AceView cDNA sequences (see all 261):

    CR598761 NM_153273 AI061152 BQ708457 BE888184 BM700613 BX112060 BU737830 
    BQ707657 BG763568 AI221373 CD105851 AI799298 BX402016 BQ723601 Z44967 
    AI872252 BE855624 BU729385 CB152138 CB155603 BU849454 BM679116 AI571292 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for IP6K1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b
    SP1:              -     -                             -                           
    SP2:              -     -     -                       -                           
    SP3:                    -                                                         
    SP4:                                                                              
    SP5:                                                                              


    ECgene alternative splicing isoforms for IP6K1

    (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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    IP6K1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACGTTCCCT
    IP6K1 Expression
    About this image


    IP6K1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Kidney (Urinary System)
             Metanephros
     
     Eye (Sensory Organs)
             Lens
     
     Neural Tube (Nervous System)
             Telencephalon
    IP6K1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IP6K1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.386168
        Custom PCR Arrays for IP6K1
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for IP6K1
    OriGene qSTAR qPCR primer pairs in human, mouse for IP6K1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat IP6K1
    QuantiTect SYBR Green Assays in human, mouse, rat IP6K1
    QuantiFast Probe-based Assays in human, mouse, rat IP6K1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IP6K1

    (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 and fungi.

    Orthologs for IP6K1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ip6k11 , 5 inositol hexaphosphate kinase 11, 5 91.61(n)1
    96.77(a)1
      9 (59.07 cM)5
    273991  NM_013785.21  NP_038813.21 
     1080025015 
    chicken
    (Gallus gallus)
    Aves IP6K11 inositol hexakisphosphate kinase 1 78.21(n)
    83.37(a)
      100857294  XM_004944427.1  XP_004944484.1 
    lizard
    (Anolis carolinensis)
    Reptilia IP6K16
    inositol hexakisphosphate kinase 1
    83(a)
    1 ↔ 1
    2(146929536-146968038)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.151022 Xenopus laevis transcribed sequence with weak similarity more 81.77(n)    BJ033414.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ip6k11 inositol hexakisphosphate kinase 1 70.85(n)
    74.19(a)
      564478  XM_687812.6  XP_692904.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG100826
    --
    16(a)
    1 → many
    2R(17533682-17545440)
    worm
    (Caenorhabditis elegans)
    Secernentea F30A10.31 F30A10.3 47.35(n)
    43.95(a)
      172779  NM_060118.4  NP_492519.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ARG82(YDR173C)4 Inositol polyphosphate multikinase (IPMK), sequentially more   --   4(811632-810565) 851753  NP_010458.1 


    ENSEMBL Gene Tree for IP6K1 (if available)
    TreeFam Gene Tree for IP6K1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for IP6K1 gene
    IP6K32  IPMK2  IP6K22  
    3 SIMAP similar genes for IP6K1 using alignment to 3 protein entries:     IP6K1_HUMAN (see all proteins):
    IP6K2    IHPK2    IP6K3

    Find genes that share paralogs with IP6K1           About GenesLikeMe



    (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 IP6K1 (see all 1138)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs352445581,2
    C--49741610(+) CCTTA-/A/AA  
            
    AAAAA
    3 -- int11NA 2
    rs1450588021,2
    C--49763448(+) GGGACA/GGGCTG 3 -- ut310--------
    rs1388412651,2
    --49763603(+) AAGAGC/TGCCTC 3 -- ut310--------
    rs1888018831,2
    --49763679(+) GCCCTC/GGGAGG 3 -- ut310--------
    rs1493557771,2
    C--49763683(+) TGGGAA/GGAGCA 3 -- ut310--------
    rs1811785411,2
    --49763945(+) GCGCCA/GCCCTC 3 -- ut310--------
    rs1855868521,2
    --49764009(+) AGACCA/GAAGGA 3 -- ut310--------
    rs1895137741,2
    --49764166(+) GTGGAA/GGGGCC 3 -- ut310--------
    rs745513711,2
    C,F--49764243(+) GACAAG/AAGAAA 3 -- ut311Minor allele frequency- A:0.03WA 118
    rs1446591061,2
    C--49764350(+) CTGAGA/GAGCCT 3 -- ut310--------

    HapMap Linkage Disequilibrium report for IP6K1 (49761727 - 49823975 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for IP6K1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2544793CNV Insertion19546169
    esv1442016CNV Insertion17803354
    nsv508217CNV Loss20534489
    nsv876766CNV Loss21882294
    nsv834688CNV Loss17160897
    dgv116n6CNV Loss16902084

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing IP6K1
    DNA2.0 Custom Variant and Variant Library Synthesis for IP6K1

    (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.)
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    OMIM gene information: 606991    OMIM disorders: --


    Find genes that share disorders with IP6K1           About GenesLikeMe

    Genetic Association Database (GAD): IP6K1
    Human Genome Epidemiology (HuGE) Navigator: IP6K1 (1 document)

    Export disorders for IP6K1 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 IP6K1 gene, integrated from 10 sources (see all 26):
    (articles sorted by number of sources associating them with IP6K1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association analysis of 3p21 with Crohn's disease in a New Zealand population. (PubMed id 20307617)1, 4 Morgan A.R....Ferguson L.R. (Hum. Immunol. 2010)
    2. 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. (Genome Res. 2004)
    3. Identification and characterization of a novel inositol hexakisphosphate kinase. (PubMed id 11502751)1, 2 Saiardi A.... Snyder S.H. (J. Biol. Chem. 2001)
    4. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PubMed id 9039502)1, 2 Nagase T.... Nomura N. (DNA Res. 1996)
    5. The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus. (PubMed id 15221640)1, 9 Kamimura J....Matsumoto N. (J. Hum. Genet. 2004)
    6. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    7. The regulation of runt-related transcription factor 2 by fibroblast growth factor-2 and connexin43 requires the inositol polyphosphate/protein kinase CI' cascade. (PubMed id 23322705)1 Niger C....Stains J.P. (J. Bone Miner. Res. 2013)
    8. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. (PubMed id 23128233)1 Jostins L....Cho J.H. (Nature 2012)
    9. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    10. Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia. (PubMed id 21078624)1 Kahle J.J....Zoghbi H.Y. (Hum. Mol. Genet. 2011)

    (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: 9807 HGNC: 18360 AceView: IHPK1 Ensembl:ENSG00000176095 euGenes: HUgn9807
    ECgene: IP6K1 H-InvDB: IP6K1

    (According to HUGE)
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    HUGE: KIAA0263

    (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 IP6K1 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 IP6K1 gene:
    Search GeneIP for patents involving IP6K1

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



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