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PPIP5K1 Gene

protein-coding   GIFtS: 50
GCID: GC15M043826

Diphosphoinositol Pentakisphosphate Kinase 1

(Previous name: histidine acid phosphatase domain containing 2A)
(Previous symbol: HISPPD2A)
  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
Diphosphoinositol Pentakisphosphate Kinase 11 2 3     VIP12 3
HISPPD2A1 2 3 5     hsVIP12 3
IP6K2 3 5     IP6 Kinase2 3
IPS12 3 5     VIP1 Homolog2 3
Histidine Acid Phosphatase Domain Containing 2A1 2     KIAA03773 5
Histidine Acid Phosphatase Domain-Containing Protein 2A2 3     Inositol Hexakisphosphate And Diphosphoinositol-Pentakisphosphate Kinase 12
Inositol Pyrophosphate Synthase 12 3     EC 2.7.4.213
InsP6 And PP-IP5 Kinase 12 3     EC 2.7.4.243

External Ids:    HGNC: 290231   Entrez Gene: 96772   Ensembl: ENSG000001687817   OMIM: 6109795   UniProtKB: Q6PFW13   

Export aliases for PPIP5K1 gene to outside databases

Previous GC identifer: GC15M020673


(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 PPIP5K1 Gene:
This gene encodes a dual functional inositol kinase. The encoded enzyme converts inositol hexakisphosphate to
diphosphoinositol pentakisphosphate and diphosphoinositol pentakisphosphate to bis-diphosphoinositol
tetrakisphosphate. This protein may be important for intracellular signaling pathways. Alternate splicing results
in multiple transcript variants. A pseudogene of this gene is found on chromosome 15.(provided by RefSeq, Jun
2010)

GeneCards Summary for PPIP5K1 Gene:
PPIP5K1 (diphosphoinositol pentakisphosphate kinase 1) is a protein-coding gene. Diseases associated with PPIP5K1 include male infertility, and infertility. GO annotations related to this gene include inositol hexakisphosphate 1-kinase activity and acid phosphatase activity. An important paralog of this gene is PPIP5K2.

UniProtKB/Swiss-Prot: VIP1_HUMAN, Q6PFW1
Function: Bifunctional inositol kinase that acts in concert with the IP6K kinases IP6K1, IP6K2 and IP6K3 to
synthesize the diphosphate group-containing inositol pyrophosphates diphosphoinositol pentakisphosphate,
PP-InsP5, and bis-diphosphoinositol tetrakisphosphate, (PP)2-InsP4. PP-InsP5 and (PP)2-InsP4, also respectively
called InsP7 and InsP8, regulate a variety of cellular processes, including apoptosis, vesicle trafficking,
cytoskeletal dynamics, exocytosis, insulin signaling and neutrophil activation. Phosphorylates inositol
hexakisphosphate (InsP6) at positions 1 or 3 to produce PP-InsP5 which is in turn phosphorylated by IP6Ks to
produce (PP)2-InsP4. Alternatively, phosphorylates at position 1 or 3 PP-InsP5, produced by IP6Ks from InsP6, to
produce (PP)2-InsP4. Activated when cells are exposed to hyperosmotic stress




(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_000015.10  NT_010194.18  NC_018926.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for PPIP5K1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPPIP5K1 promoter sequence
   Search Chromatin IP Primers for PPIP5K1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PPIP5K1


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

Entrez Gene cytogenetic band: 15q15.3   Ensembl cytogenetic band:  15q15.3   HGNC cytogenetic band: 15q15.3

PPIP5K1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PPIP5K1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M043826:  view genomic region     (about GC identifiers)

Start:
43,825,660 bp from pter      End:
43,882,451 bp from pter
Size:
56,792 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: VIP1_HUMAN, Q6PFW1 (See protein sequence)
Recommended Name: Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1  
Size: 1433 amino acids; 159521 Da
Sequence caution: Sequence=BAA20831.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: O15082 Q5HYF8 Q7Z3A7 Q86TE7 Q86UV3 Q86UV4 Q86XW8 Q8IZN0
Alternative splicing: 7 isoforms:  Q6PFW1-1   Q6PFW1-2   Q6PFW1-3   Q6PFW1-4   Q6PFW1-5   Q6PFW1-6   Q6PFW1-7   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PPIP5K1: NX_Q6PFW1

Explore proteomics data for PPIP5K1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PPIP5K1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001124330.1  NP_001124331.1  NP_001177143.1  NP_055474.3  

    ENSEMBL proteins: 
     ENSP00000371309   ENSP00000380129   ENSP00000353446   ENSP00000353253   ENSP00000334779  
     ENSP00000371303   ENSP00000387999   ENSP00000410563   ENSP00000415349   ENSP00000407704  
     ENSP00000405106   ENSP00000390657   ENSP00000405200   ENSP00000400887   ENSP00000308773  
    Reactome Protein details: Q6PFW1

    PPIP5K1 Human Recombinant Protein Products:

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    (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:
     IPR000560 His_Pase_superF_clade-2

    Graphical View of Domain Structure for InterPro Entry Q6PFW1

    ProtoNet protein and cluster: Q6PFW1

    1 Blocks protein domain: IPB000560 Histidine acid phosphatase

    UniProtKB/Swiss-Prot: VIP1_HUMAN, Q6PFW1
    Domain: The polyphosphoinositide-binding domain mediates binding of PtdIns(3,4,5)P3 and InsP6. Despite its
    similarity with the phosphatase domain of histidine acid phosphatases, it has no phosphatase activity
    (PubMed:21222653)
    Similarity: Belongs to the histidine acid phosphatase family. VIP1 subfamily


    PPIP5K1 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: VIP1_HUMAN, Q6PFW1
    Function: Bifunctional inositol kinase that acts in concert with the IP6K kinases IP6K1, IP6K2 and IP6K3 to
    synthesize the diphosphate group-containing inositol pyrophosphates diphosphoinositol pentakisphosphate,
    PP-InsP5, and bis-diphosphoinositol tetrakisphosphate, (PP)2-InsP4. PP-InsP5 and (PP)2-InsP4, also respectively
    called InsP7 and InsP8, regulate a variety of cellular processes, including apoptosis, vesicle trafficking,
    cytoskeletal dynamics, exocytosis, insulin signaling and neutrophil activation. Phosphorylates inositol
    hexakisphosphate (InsP6) at positions 1 or 3 to produce PP-InsP5 which is in turn phosphorylated by IP6Ks to
    produce (PP)2-InsP4. Alternatively, phosphorylates at position 1 or 3 PP-InsP5, produced by IP6Ks from InsP6, to
    produce (PP)2-InsP4. Activated when cells are exposed to hyperosmotic stress
    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
    Catalytic activity: ATP + 1D-myo-inositol 5-diphosphate pentakisphosphate = ADP + 1D-myo-inositol bisdiphosphate
    tetrakisphosphate (isomeric configuration unknown)
    Biophysicochemical properties: Kinetic parameters: KM=0.12 uM for InsP6; KM=0.10 uM for InsP7; Vmax=0.03
    nmol/min/mg enzyme with InsP6 as substrate; Vmax=0.13 nmol/min/mg enzyme with InsP7 as substrate; Note=The
    catalytic efficiency is 80 folds higher for 5-PP-InsP5 (InsP7) compared to InsP6;

         Enzyme Numbers (IUBMB): EC 2.7.4.241 EC 2.7.4.211

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000827inositol-1,3,4,5,6-pentakisphosphate kinase activity IDA17412958
    GO:0000832inositol hexakisphosphate 5-kinase activity IDA17412958
    GO:0003993acid phosphatase activity IEA--
    GO:0005524ATP binding IEA--
    GO:0033857diphosphoinositol-pentakisphosphate kinase activity IDA17412958
         
    PPIP5K1 for ontologies           About GeneDecksing


    Animal Models:
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    Selected qRT-PCR Assays for microRNAs that regulate PPIP5K1 (see all 22):
    hsa-miR-4291 hsa-miR-892b hsa-miR-16-2* hsa-miR-548s hsa-miR-4299 hsa-miR-512-3p hsa-miR-9 hsa-miR-133a
    SwitchGear 3'UTR luciferase reporter plasmidPPIP5K1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PPIP5K1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PPIP5K1


    (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
    VIP1_HUMAN, Q6PFW1: Cytoplasm, cytosol. Cell membrane. Note=Relocalizes to the plasma membrane upon activation
    of the PtdIns 3-kinase pathway
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    plasma membrane5
    nucleus4

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IEA--

    PPIP5K1 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 PPIP5K1 About    
    See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for PPIP5K1
        inositol pyrophosphates biosynthesis
    superpathway of inositol phosphate compounds

    1 Reactome Pathway for PPIP5K1
        Synthesis of pyrophosphates in the cytosol



    PPIP5K1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PPIP5K1
    Interactions:

        Search GeneGlobe Interaction Network for PPIP5K1

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

    Selected Interacting proteins for PPIP5K1 (Q6PFW13 ENSP000003801294) via UniProtKB, MINT, STRING, and/or I2D (see all 158)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006020inositol metabolic process IDA17412958
    GO:0043647inositol phosphate metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    PPIP5K1 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 PPIP5K1 (VIP1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PPIP5K1 gene (5 alternative transcripts): 
    NM_001130858.2  NM_001130859.2  NM_001190214.1  NM_014659.5  NM_001024463.3  

    Unigene Cluster for PPIP5K1:

    Diphosphoinositol pentakisphosphate kinase 1
    Hs.156814  [show with all ESTs]
    Unigene Representative Sequence: NM_001130858
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000381885 ENST00000396923(uc001zrz.1) ENST00000360301(uc021sjw.1)
    ENST00000360135(uc001zrx.2 uc021sjz.1) ENST00000334933(uc001zry.4)
    ENST00000381879(uc021sjx.1) ENST00000488490 ENST00000439195 ENST00000437065
    ENST00000432870 ENST00000462136 ENST00000488768(uc010udr.2) ENST00000469229
    ENST00000465123 ENST00000427877 ENST00000476294 ENST00000472547 ENST00000453080

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    hsa-miR-4291 hsa-miR-892b hsa-miR-16-2* hsa-miR-548s hsa-miR-4299 hsa-miR-512-3p hsa-miR-9 hsa-miR-133a
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      QuantiFast Probe-based Assays in human, mouse, rat PPIP5K1

    Additional mRNA sequence: 

    AB002375.1 AF543190.1 AK307438.1 BC035611.1 BC050263.1 BC057395.1 BX538022.1 BX647814.1 
    BX647870.1 

    19 DOTS entries:

    DT.95160496  DT.100694259  DT.95358190  DT.91848409  DT.95288554  DT.91760860  DT.91918714  DT.92046065 
    DT.95160502  DT.101970581  DT.100715302  DT.100779675  DT.121024924  DT.91973683  DT.95253359  DT.121025243 
    DT.40300693  DT.95300146  DT.99961051 

    Selected AceView cDNA sequences (see all 49):

    BI855886 AA889545 BX647870 AF502586 BM727418 BU740885 AF502588 AW105451 
    AI206925 BM966857 AF502587 BC050263 AI459422 BU634234 BE867530 AL598646 
    BC035611 BM545051 AA551412 BQ339564 BU632825 BE903417 AF502589 BX647814 

    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™, 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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    PPIP5K1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCACTAAAT
    PPIP5K1 Expression
    About this image

    PPIP5K1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PPIP5K1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.156814

    UniProtKB/Swiss-Prot: VIP1_HUMAN, Q6PFW1
    Tissue specificity: Widely expressed, with a higher expression in skeletal muscle, heart and brain

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    In Situ
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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 animals and fungi.

    Orthologs for PPIP5K1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ppip5k11 , 5 diphosphoinositol pentakisphosphate kinase 11, 5 88.19(n)1
    91.39(a)1
      2 (60.37 cM)5
    3276551  NM_178795.41  NP_848910.31 
     1213105615 
    chicken
    (Gallus gallus)
    Aves PPIP5K11 diphosphoinositol pentakisphosphate kinase 1 74.68(n)
    81.16(a)
      415587  XM_004943988.1  XP_004944045.1 
    lizard
    (Anolis carolinensis)
    Reptilia PPIP5K16
    diphosphoinositol pentakisphosphate kinase 1
    68(a)
    1 ↔ 1
    AAWZ02035997(2712-30764)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ppip5k11 diphosphoinositol pentakisphosphate kinase 1 70.4(n)
    76.25(a)
      100493265  XM_002932263.2  XP_002932309.2 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.183712 Transcribed sequence with moderate similarity to protein more 76.07(n)    57093388 
    fruit fly
    (Drosophila melanogaster)
    Insecta l(1)G01966
    lethal (1) G0196
    36(a)
    1 → many
    X(21889016-21909502)
    worm
    (Caenorhabditis elegans)
    Secernentea F46F11.16
    Protein F46F11.1, isoform a (F46F11.1) mRNA, compl...
    40(a)
    1 → many
    I(5627819-5637617) WBGene00018508
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VIP1(YLR410W)4 Inositol hexakisphosphate (IP6) and inositol heptakisphosphate more   --   12(937541-940981) 851126  NP_013514.1 


    ENSEMBL Gene Tree for PPIP5K1 (if available)
    TreeFam Gene Tree for PPIP5K1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PPIP5K1 gene
    PPIP5K22  
    1 SIMAP similar gene for PPIP5K1 using alignment to 9 protein entries:     VIP1_HUMAN (see all proteins):
    PPIP5K2

    PPIP5K1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for PPIP5K1
    PGOHUM00000246767 PGOHUM00000251180


    (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 PPIP5K1 (see all 1309)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1487660051,2
    C,F--23941862(+) AGAGTC/TGCTCT 4 -- int11Minor allele frequency- T:0.07EU 120
    rs2007705431,2
    C,F--23958344(+) GGCCCA/GTGCAA 4 -- int11Minor allele frequency- G:0.00EU 1195
    rs1417490621,2
    F--23958365(+) CTGCTC/GAGGAC 4 -- int11Minor allele frequency- G:0.00NA 4058
    rs29207911,2
    C,H--23958954(+) TACAAG/ATAGGT 4 -- int16Minor allele frequency- A:0.00NS EA NA 410
    rs28606661,2
    C--23958955(+) ACAAGT/GAGGTG 4 -- int11Minor allele frequency- G:0.00EU 1313
    rs29157911,2
    C,H--23958969(+) CAGAAC/ACTCCA 4 -- int17Minor allele frequency- A:0.00NS EA NA EU 1707
    rs124380251,2
    C,F,H--23958994(+) CACTGG/CAGATG 4 -- int16Minor allele frequency- C:0.22WA NA EA EU 5997
    rs1396833751,2
    C,F--23959009(+) GTGCCG/CAGGAA 4 -- int12Minor allele frequency- C:0.00NA EU 5805
    rs1849090191,2
    --23959027(+) GCTTGA/GCTGTA 4 -- int10--------
    rs124379571,2
    C,F,H--23959040(+) ACAGTA/GGGAAG 4 -- int1 trp34Minor allele frequency- G:0.17NA WA EA EU 1540

    HapMap Linkage Disequilibrium report for PPIP5K1 (43825660 - 43882451 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PPIP5K1 (see all 20):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509569CNV Insertion20534489
    nsv1514CNV Loss18451855
    dgv2373n71CNV Loss21882294
    nsv428304CNV Loss18775914
    nsv9248CNV Loss18304495
    nsv9246CNV Loss18304495
    nsv437799CNV Loss16327808
    nsv524910CNV Loss19592680
    nsv832988CNV Loss17160897
    nsv518707CNV Loss19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PPIP5K1
    DNA2.0 Custom Variant and Variant Library Synthesis for PPIP5K1

    (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: 610979    OMIM disorders: --

    3 diseases for PPIP5K1:    
    About MalaCards
    male infertility    infertility    malaria


    PPIP5K1 for disorders           About GeneDecksing


    Export disorders for PPIP5K1 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 PPIP5K1 gene, integrated from 10 sources (see all 21):
    (articles sorted by number of sources associating them with PPIP5K1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structural analysis and detection of biological inositol pyrophosphates reveal that the family of VIP/diphosphoinositol pentakisphosphate kinases are 1/3-kinases. (PubMed id 18981179)1, 2, 3 Lin H.... Mayr G.W. (J. Biol. Chem. 2009)
    2. A conserved family of enzymes that phosphorylate inositol hexakisphosphate. (PubMed id 17412958)1, 2, 3 Mulugu S.... York J.D. (Science 2007)
    3. Cloning and characterization of two human VIP1-like inositol hexakisphosphate and diphosphoinositol pentakisphosphate kinases. (PubMed id 17690096)1, 2, 3 Fridy P.C.... York J.D. (J. Biol. Chem. 2007)
    4. Receptor-dependent compartmentalization of PPIP5K1, a kinase with a cryptic polyphosphoinositide binding domain. (PubMed id 21222653)1, 2 Gokhale N.A.... Shears S.B. (Biochem. J. 2011)
    5. Purification, sequencing, and molecular identification of a mammalian PP-InsP5 kinase that is activated when cells are exposed to hyperosmotic stress. (PubMed id 17702752)1, 2 Choi J.H.... Shears S.B. (J. Biol. Chem. 2007)
    6. CATSPER2, a human autosomal nonsyndromic male infertility gene. (PubMed id 12825070)1, 2 Avidan N.... Beckmann J.S. (Eur. J. Hum. Genet. 2003)
    7. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9205841)1, 2 Nagase T.... Ohara O. (DNA Res. 1997)
    8. A genome wide association study of genetic loci that influence tumour biomarkers cancer antigen 19-9, carcinoembryonic antigen and I+ fetoprotein and their associations with cancer risk. (PubMed id 23300138)1 He M....Wu T. (Gut 2014)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    10. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 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: 9677 HGNC: 29023 AceView: KIAA0377.1 Ensembl:ENSG00000168781 euGenes: HUgn9677
    ECgene: PPIP5K1 H-InvDB: PPIP5K1

    (According to HUGE)
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    HUGE: KIAA0377

    (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 PPIP5K1 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 PPIP5K1 gene:
    Search GeneIP for patents involving PPIP5K1

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



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