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PIP5K1B Gene

protein-coding   GIFtS: 65
GCID: GC09P071320

Phosphatidylinositol-4-Phosphate 5-Kinase, Type I, Beta

  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
Phosphatidylinositol-4-Phosphate 5-Kinase, Type I, Beta1 2     PIP5KIbeta2 3
STM72 3 5     EC 2.7.1.683 8
Phosphatidylinositol 4-Phosphate 5-Kinase Type I Beta2 3     MSS42 5
Protein STM-72 3     Phosphatidylinositol 4-Phosphate 5-Kinase Type-1 Beta2
PtdIns(4)P-5-Kinase 1 Beta2 3     Phosphatidylinositol-4-Phosphate 5-Kinase Type-1 Beta2
Type I Phosphatidylinositol 4-Phosphate 5-Kinase Beta2 3     Type I Phosphatidylinositol-4-Phosphate 5-Kinase Beta2
PIP5K1-beta2 3     EC 2.7.18

External Ids:    HGNC: 89951   Entrez Gene: 83952   Ensembl: ENSG000001072427   OMIM: 6027455   UniProtKB: O149863   

Export aliases for PIP5K1B gene to outside databases

Previous GC identifers: GC09P062364 GC09P063177 GC09P064890 GC09P066777 GC09P068550 GC09P070510 GC09P041166


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for PIP5K1B Gene:
PIP5K1B (phosphatidylinositol-4-phosphate 5-kinase, type I, beta) is a protein-coding gene. Diseases associated with PIP5K1B include friedreich ataxia, and ataxia. GO annotations related to this gene include 1-phosphatidylinositol-4-phosphate 5-kinase activity. An important paralog of this gene is PIP4K2A.

UniProtKB/Swiss-Prot: PI51B_HUMAN, O14986
Function: Participates in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. Mediates RAC1-dependent
reorganization of actin filaments. Contributes to the activation of PLD2. Together with PIP5K1A is required after
stimulation of G-protein coupled receptors for stable platelet adhesion (By similarity)

Gene Wiki entry for PIP5K1B Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000009.12  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PIP5K1B gene promoter:
         HFH-3   C/EBPbeta   Pax-2   Nkx2-5   Pax-2a   E47   FOXI1   GATA-6   Pax-2b   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPIP5K1B promoter sequence
   Search Chromatin IP Primers for PIP5K1B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PIP5K1B


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

Entrez Gene cytogenetic band: 9q13   Ensembl cytogenetic band:  9q21.11   HGNC cytogenetic band: 9q13

PIP5K1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PIP5K1B gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P071320:  view genomic region     (about GC identifiers)

Start:
71,320,575 bp from pter      End:
71,624,092 bp from pter
Size:
303,518 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PI51B_HUMAN, O14986 (See protein sequence)
Recommended Name: Phosphatidylinositol 4-phosphate 5-kinase type-1 beta  
Size: 540 amino acids; 61036 Da
Subunit: Interacts with RAC1, AJUBA, PLD1, PLD2 and ARF1 (By similarity)
Caution: There is confusion in the literature with phosphatidylinositol 4-phosphate 5-kinase type I nomenclature
due to the fact that frequently mouse PIP5K1B is named Phosphatidylinositol 4-phosphate 5-kinase type I alpha
Secondary accessions: A8K9L9 P78518 P78519 Q5T5K6 Q5T5K8 Q5T5K9 Q5VZ00 Q7KYT5 Q8NHQ5 Q92749
Alternative splicing: 2 isoforms:  O14986-1   O14986-2   

Explore the universe of human proteins at neXtProt for PIP5K1B: NX_O14986

Explore proteomics data for PIP5K1B at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PIP5K1B (O14986) (see all 22)
     GIIDILQ  DYSLLLG  IMDYSLL  KTLQRDC 


    See PIP5K1B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001265182.1  NP_003549.1  

    ENSEMBL proteins: 
     ENSP00000265382   ENSP00000366498   ENSP00000398587   ENSP00000411477   ENSP00000435778  
     ENSP00000438082  
    Reactome Protein details: O14986

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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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    5 InterPro protein domains:
     IPR027484 PInositol-4-P-5-kinase_N
     IPR002498 PInositol-4-P-5-kinase_core
     IPR027483 PInositol-4-P-5-kinase_C
     IPR016034 PInositol-4P-5-kinase_core_sub
     IPR023610 PInositol-4-P-5-kinase

    Graphical View of Domain Structure for InterPro Entry O14986

    ProtoNet protein and cluster: O14986

    1 Blocks protein domain: IPB002498 Phosphatidylinositol-4-phosphate 5-kinase

    UniProtKB/Swiss-Prot: PI51B_HUMAN, O14986
    Similarity: Contains 1 PIPK domain


    PIP5K1B 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: PI51B_HUMAN, O14986
    Function: Participates in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. Mediates RAC1-dependent
    reorganization of actin filaments. Contributes to the activation of PLD2. Together with PIP5K1A is required after
    stimulation of G-protein coupled receptors for stable platelet adhesion (By similarity)
    Catalytic activity: ATP + 1-phosphatidyl-1D-myo-inositol 4-phosphate = ADP + 1-phosphatidyl-1D-myo-inositol
    4,5-bisphosphate

         Genatlas biochemistry entry for PIP5K1B:
    phosphatidylinositol-4-phosphate-5-kinase,type 1 beta,sequence,widely expressed,with an open reading frame of
    1620bp,extending upon 220kb,overlapping D9S887,D9S888,D9S889,with the 3'utr of PRKACG contributing to exon
    17,extending distally in the Friedreich critical region strongly homolog to yeast MSS4,putatively involved in
    signal transduction,excluded as a candidate gene for FRDA

         Enzyme Numbers (IUBMB): EC 2.7.1.681 2 EC 2.7.12

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--
    GO:0016307phosphatidylinositol phosphate kinase activity ----
    GO:00163081-phosphatidylinositol-4-phosphate 5-kinase activity NAS8955136
         
    PIP5K1B for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PIP5K1B:
     G0/1 arrest  Increased G1 DNA content 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pip5k1b):
     endocrine/exocrine gland  hematopoietic system  immune system  reproductive system 

    PIP5K1B for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pip5k1btm1Tssk for PIP5K1B

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    hsa-miR-3142 hsa-miR-625* hsa-miR-27a hsa-miR-3121-3p hsa-miR-340 hsa-miR-27b
    SwitchGear 3'UTR luciferase reporter plasmidPIP5K1B 3' UTR sequence
    Inhib. RNA
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    (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
    PI51B_HUMAN, O14986: Endomembrane system (By similarity). Note=Associated with membranes (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001931uropod IDA--
    GO:0005829cytosol TAS--
    GO:0012505endomembrane system IEA--
    GO:0016020membrane IEA--

    PIP5K1B 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 PIP5K1B About   (see all 20)  
    See pathways by source

    SuperPathContained pathways About
    1Inositol phosphate metabolism (KEGG)
    Inositol phosphate metabolism0.61
    superpathway of inositol phosphate compounds0.60
    Phosphatidylinositol signaling system0.61
    D-myo-inositol (1,4,5)-trisphosphate biosynthesis0.36
    2PI Metabolism
    PI Metabolism0.65
    3-phosphoinositide biosynthesis0.47
    Synthesis of PIPs at the plasma membrane0.65
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    4Regulation of actin cytoskeleton
    Regulation of actin cytoskeleton0.57
    Regulation of Actin Cytoskeleton0.57
    5Apoptotic Pathways in Synovial Fibroblasts
    Rac1 Pathway0.65
    Actin-Based Motility by Rho Family GTPases0.62

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PIP5K1B (see all 7)
        Rac1 Pathway
    RhoA Pathway
    Actin-Based Motility by Rho Family GTPases
    Integrin Pathway
    Aldosterone Signaling in Epithelial Cells

    3 GeneGo (Thomson Reuters) Pathways for PIP5K1B
        Inhibitory action of Lipoxins on neutrophil migration
    G-protein signaling RAC1 in cellular process
    Immune response CD28 signaling

    Selected BioSystems Pathways for PIP5K1B (see all 8)
        Regulation of Actin Cytoskeleton
    B Cell Receptor Signaling Pathway
    3-phosphoinositide biosynthesis
    D-myo-inositol (1,4,5)-trisphosphate biosynthesis
    Canonical Wnt signaling pathway

    2 Reactome Pathways for PIP5K1B
        WNT mediated activation of DVL
    Synthesis of PIPs at the plasma membrane


    Selected Kegg Pathways  (Kegg details for PIP5K1B) (see all 6):
        Inositol phosphate metabolism
    Metabolic pathways
    Phosphatidylinositol signaling system
    Endocytosis
    Fc gamma R-mediated phagocytosis


    PIP5K1B for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PIP5K1B
    Interactions:

        Search GeneGlobe Interaction Network for PIP5K1B

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

    Selected Interacting proteins for PIP5K1B (O149863 ENSP000002653824) via UniProtKB, MINT, STRING, and/or I2D (see all 110)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CLIC1O002993I2D: score=2 
    ENSG00000206394O002993I2D: score=2 
    ENSG00000223639O002993I2D: score=2 
    ENSG00000226248O002993I2D: score=2 
    ENSG00000226417O002993I2D: score=2 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006644phospholipid metabolic process TAS--
    GO:0006661phosphatidylinositol biosynthetic process TAS--
    GO:0016310phosphorylation ----
    GO:0044281small molecule metabolic process TAS--
    GO:0046488phosphatidylinositol metabolic process ----

    PIP5K1B 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 PIP5K1B (PI51B)

    3 HMDB Compounds for PIP5K1B    About this table
    CompoundSynonyms CAS #PubMed Ids
    1-Phosphatidyl-D-myo-inositol1-Phosphatidyl-1D-myo-inositol (see all 6)----
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--

    2 Novoseek inferred chemical compound relationships for PIP5K1B gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphoinositide 66.3 1 8841185 (1)
    lipid 19.4 1 16943196 (1)



    PIP5K1B for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PIP5K1B gene (3 alternative transcripts): 
    NM_001031687.1  NM_001278253.1  NM_003558.3  

    Unigene Cluster for PIP5K1B:

    Phosphatidylinositol-4-phosphate 5-kinase, type I, beta
    Hs.534371  [show with all ESTs]
    Unigene Representative Sequence: BC030587
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000265382(uc004agu.3 uc011lrq.2) ENST00000472907 ENST00000474356
    ENST00000377284 ENST00000437200 ENST00000440050 ENST00000478500(uc004agv.3)
    ENST00000541509
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    hsa-miR-3142 hsa-miR-625* hsa-miR-27a hsa-miR-3121-3p hsa-miR-340 hsa-miR-27b
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    Additional mRNA sequence: 

    AK292734.1 AK295587.1 BC030587.2 U78579.1 U78580.1 U78581.1 

    10 DOTS entries:

    DT.80101308  DT.91751831  DT.100755498  DT.121167033  DT.95208667  DT.91649497  DT.95167072  DT.100755500 
    DT.121166964  DT.75185935 

    Selected AceView cDNA sequences (see all 104):

    AI089739 AI281276 AI280175 AA598845 BM692474 AI249027 BM725564 BF590418 
    AL600893 U78581 CB216055 BF591050 AI581828 BF590756 BF590740 AA054165 
    AL705046 BX116007 BQ189338 BM926175 AA694328 AI309914 BQ638622 BQ006894 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PIP5K1B (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21
    SP1:              -     -     -     -           -                                                                                             
    SP2:                                                                                                                                -         
    SP3:                    -                                                                                                                     
    SP4:                                                                    -     -                                                               
    SP5:              -     -     -     -     -     -                                                                                             


    ECgene alternative splicing isoforms for PIP5K1B

    (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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    PIP5K1B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCATTGAAAG
    PIP5K1B Expression
    About this image


    PIP5K1B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Gonad
             Primordial Germ Cells Allantois
     
     Placenta (Extraembryonic Tissues)
             Primordial Germ Cells Allantois
     
     Heart (Cardiovascular System)
     
     Colon (Gastrointestinal Tract)
    PIP5K1B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PIP5K1B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.534371

    UniProtKB/Swiss-Prot: PI51B_HUMAN, O14986
    Tissue specificity: Detected in heart, pancreas, brain, kidney, skeletal muscle and lung

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PIP5K1B gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pip5k1b1 , 5 phosphatidylinositol-4-phosphate 5-kinase, type 1 beta1, 5 88(n)1
    96.47(a)1
      19 (19.44 cM)5
    187191  NM_008846.21  NP_032872.11 
     242947945 
    chicken
    (Gallus gallus)
    Aves PIP5K1B1 phosphatidylinositol-4-phosphate 5-kinase, type I, more 79.94(n)
    86.67(a)
      427243  NM_001031422.1  NP_001026593.1 
    lizard
    (Anolis carolinensis)
    Reptilia PIP5K1B6
    phosphatidylinositol-4-phosphate 5-kinase, type I,...
    84(a)
    1 ↔ 1
    2(49733806-49838777)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3986872 hypothetical protein LOC398687 78.72(n)    BC055973.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.147752 Transcribed sequences 76.14(n)    CK239124.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sktl3 peripheral nervous system development
    1-phosphatidylinositol-4-phosphate
    more
    53(a)   2 57B3   --
    worm
    (Caenorhabditis elegans)
    Secernentea ppk-13   -- 53(a)   I(5358529-5364151)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MSS46
    Phosphatidylinositol-4-phosphate 5-kinase, involve...
    19(a)
    1 → many
    IV(868224-870563) YDR208W
    rice
    (Oryza sativa)
    Liliopsida Os03g02620001 Os03g0262000 48.62(n)
    41.45(a)
      4332323  NM_001056159.1  NP_001049624.1 


    ENSEMBL Gene Tree for PIP5K1B (if available)
    TreeFam Gene Tree for PIP5K1B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PIP5K1B gene
    PIP4K2A2  PIP4K2B2  PIP4K2C2  PIP5K1C2  PIP5KL12  PIP5K1A2  
    7 SIMAP similar genes for PIP5K1B using alignment to 2 protein entries:     PI51B_HUMAN (see all proteins):
    STM7    PIP5K1A    PIP5K1C    PIPSL    PIP4K2A    PIP4K2C
    PIP4K2B

    PIP5K1B 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), 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 PIP5K1B (see all 5490)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs713530841,2
    C--41265143(+) TTTTT-/T/TT  
            
    GAGAG
    1 -- int11NA 2
    rs793625941,2
    C--71317335(+) AACTA-/ACTC  
            
    CTTAA
    1 -- int10--------
    rs766378571,2
    C--71318627(+) TGATTC/TGTACC 1 -- us2k10--------
    rs11071091,2
    C,F,H--71318636(-) CATCTG/TACTGG 1 -- us2k113Minor allele frequency- T:0.14NS EA NA WA 1384
    rs1835782401,2
    --71318694(+) CCCCAC/TCTTGA 1 -- us2k10--------
    rs1473401491,2
    --71318730(+) AGTTAC/TTGTTC 1 -- us2k10--------
    rs1394519591,2
    C--71318744(+) GATTGA/GGAGTC 1 -- us2k10--------
    rs11071081,2
    C,F,H--71318817(-) CTCCCA/GCTTTA 1 -- us2k127Minor allele frequency- G:0.40NA EA NS WA CSA 2592
    rs1154475381,2
    F--71318846(+) TTCCTC/TCTGCT 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs11071071,2
    C,F,H--71318858(-) TTCACA/CGCTCA 1 -- us2k119Minor allele frequency- C:0.14NS EA NA WA CSA 2194

    HapMap Linkage Disequilibrium report for PIP5K1B (71320575 - 71570575 bp, first 250kb of PIP5K1B)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PIP5K1B (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2664413CNV Deletion23128226
    esv2422258CNV Duplication17116639
    nsv6548CNV Loss18451855
    dgv8243n71CNV Loss21882294
    nsv466393CNV Gain19166990
    nsv893415CNV Gain21882294
    nsv466397CNV Gain19166990
    nsv893416CNV Gain21882294
    nsv893414CNV Gain21882294
    dgv2386e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PIP5K1B
    DNA2.0 Custom Variant and Variant Library Synthesis for PIP5K1B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602745    OMIM disorders: --

    6 diseases for PIP5K1B:    
    About MalaCards
    friedreich ataxia    ataxia    kidney disease    asthma
    schizophrenia    obesity

    1 disease from the University of Copenhagen DISEASES database for PIP5K1B:
    Friedreich ataxia

    PIP5K1B for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for PIP5K1B gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    friedreich ataxia 71.4 2 8841185 (1), 9177790 (1)

    Genetic Association Database (GAD): PIP5K1B
    Human Genome Epidemiology (HuGE) Navigator: PIP5K1B (4 documents)

    Export disorders for PIP5K1B 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 PIP5K1B gene, integrated from 10 sources (see all 31):
    (articles sorted by number of sources associating them with PIP5K1B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Exon-intron structure of a 2.7-kb transcript of the STM7 gene with phosphatidylinositol-4-phosphate 5-kinase activity. (PubMed id 9177790)1, 2, 3, 9 Pook M.A.... Chamberlain S. (Genomics 1997)
    2. The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase. (PubMed id 8841185)1, 2, 3, 9 Carvajal J.J.... Chamberlain S. (Nat. Genet. 1996)
    3. Type I phosphatidylinositol-4-phosphate 5-kinases are distinct members of this novel lipid kinase family. (PubMed id 8955136)1, 2, 9 Loijens J.C. and Anderson R.A. (J. Biol. Chem. 1996)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. Identification of novel candidate genes for treatment response to risperidone and susceptibility for schizophrenia: integrated analysis among pharmacogenomics, mouse expression, and genetic case-control association approaches. (PubMed id 19850283)1, 4 Ikeda M....Iwata N. (Biol. Psychiatry 2010)
    6. New loci associated with kidney function and chronic kidney disease. (PubMed id 20383146)1, 4 KAPttgen A....Fox C.S. (Nat. Genet. 2010)
    7. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    8. 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)
    9. Type I phosphatidylinositol 4-phosphate 5-kinase controls neutrophil polarity and directional movement. (PubMed id 18158329)1, 9 Lacalle R.A....MaA+es S. (J. Cell Biol. 2007)
    10. Cis-silencing of PIP5K1B evidenced in Friedreich's ataxia patient cells results in cytoskeleton anomalies. (PubMed id 23552101)1 Bayot A....Rustin P. (Hum. Mol. Genet. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 8395 HGNC: 8995 AceView: PIP5K1B Ensembl:ENSG00000107242 euGenes: HUgn8395
    ECgene: PIP5K1B Kegg: 8395 H-InvDB: PIP5K1B

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PIP5K1B 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 PIP5K1B gene:
    Search GeneIP for patents involving PIP5K1B

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



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