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

PIP5K1B Gene

protein-coding   GIFtS: 65
GCID: GC09P071320

phosphatidylinositol-4-phosphate 5-kinase, type I, beta

 Explore 5 diseases affiliated with
PIP5K1B via our new
 Human Malady Compendium 
Biological research products
for PIP5K1B
    

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

Aliases
Phosphatidylinositol-4-Phosphate 5-Kinase, Type I, Beta1 2     PIP5K1-Beta1
STM71 2 3 5     PIP5KIbeta2 3
MSS41 2 5     EC 2.7.1.683 8
Phosphatidylinositol 4-Phosphate 5-Kinase Type I Beta2 3     Phosphatidylinositol 4-Phosphate 5-Kinase Type-1 Beta2
Protein STM-72 3     Phosphatidylinositol-4-Phosphate 5-Kinase Type-1 Beta2
PtdIns(4)P-5-Kinase 1 Beta2 3     Type I Phosphatidylinositol-4-Phosphate 5-Kinase Beta2
Type I Phosphatidylinositol 4-Phosphate 5-Kinase 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008470.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PIP5K1B

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

UniProtKB/Swiss-Prot: 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)
Subcellular location: Endomembrane system (By similarity). Note=Associated with membranes (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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O14986

  • 4/22 DME Specific Peptides for PIP5K1B (O14986) (see all 22)
     GIIDILQ  DYSLLLG  IMDYSLL  KTLQRDC 

    PIP5K1B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003549.1  
    ENSEMBL proteins: 
     ENSP00000366505   ENSP00000366498   ENSP00000398587   ENSP00000435778   ENSP00000411477  
     ENSP00000438082   ENSP00000265382  
    Reactome Protein details: O14986
    Human Recombinant Protein Products: 
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    Browse Proteins at Uscn

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    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



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

    PIP5K1B for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR002498 PInositol-4-P-5-kinase_core
     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 family: IPB002498 Phosphatidylinositol-4-phosphate 5-kinase

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


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

    Function Summary:

         UniProtKB/Swiss-Prot: 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

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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--
    GO:00163081-phosphatidylinositol-4-phosphate 5-kinase activity NAS8955136


    PIP5K1B for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Pip5k1btm1Tssk for PIP5K1B
         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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/20 super-pathways (see all 20About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1PI Metabolism
    PI Metabolism1.00
    3-phosphoinositide biosynthesis0.48
    Synthesis of PIPs at the plasma membrane0.66
    2Metabolism
    Metabolism1.00
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.38
    3G-protein signaling_RAC1 in cellular process
    G-protein signaling RAC1 in cellular process1.00
    RAC1 signaling pathway0.34
    G-protein signaling_RAC1 in cellular process1.00
    4Inositol phosphate metabolism
    Inositol phosphate metabolism1.00
    Phosphatidylinositol signaling system0.59
    superpathway of inositol phosphate compounds0.59
    5Immune response CD28 signaling
    Immune response CD28 signaling1.00
    Immune response_CD28 signaling0.92

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for PIP5K1B
        G-protein signaling RAC1 in cellular process
    Immune response CD28 signaling

    5/7 Downloadable PowerPoint Slides of QIAGEN 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

    5/8 BioSystems Pathways for PIP5K1B (see all 8
        Regulation of Actin Cytoskeleton
    3-phosphoinositide biosynthesis
    B Cell Receptor Signaling Pathway
    D-myo-inositol (1,4,5)-trisphosphate biosynthesis
    RAC1 signaling pathway

    5        Reactome Pathways for PIP5K1B
        Metabolism
    Synthesis of PIPs at the plasma membrane
    Phospholipid metabolism
    Metabolism of lipids and lipoproteins
    PI Metabolism


    5/6         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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PIP5K1B

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

    5/75 Interacting proteins for PIP5K1B (O149863 ENSP000002653824) via UniProtKB, MINT, STRING, and/or I2D (see all 75)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BTKQ061873, ENSP000003081764I2D: score=1 STRING: ENSP00000308176
    MCRS1Q96EZ83, ENSP000003496404I2D: score=1 STRING: ENSP00000349640
    PIP5KL1Q5T9C93, ENSP000003733994I2D: score=1 STRING: ENSP00000373399
    SPOPO437913, ENSP000002403274I2D: score=2 STRING: ENSP00000240327
    CLIC1O002993I2D: score=2 
    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:0006644phospholipid metabolic process TAS--
    GO:0006661phosphatidylinositol biosynthetic process TAS--
    GO:0016310phosphorylation NAS--
    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 HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PIP5K1B for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for PIP5K1B

    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 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)

    Search CenterWatch for drugs/clinical trials and news about PIP5K1B / PI51B 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PIP5K1B gene (2 alternative transcripts): 
    NM_001031687.1  NM_003558.2  

    Unigene Cluster for PIP5K1B:

    Phosphatidylinositol-4-phosphate 5-kinase, type I, beta
    Hs.534371  [show with all ESTs]
    Unigene Representative Sequence: BC030587
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000377290 ENST00000472907 ENST00000474356 ENST00000377284 ENST00000437200
    ENST00000478500(uc004agv.3) ENST00000440050 ENST00000541509 ENST00000265382(uc004agu.3 uc011lrq.2)


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    Additional cDNA 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 

    24/104 AceView cDNA sequences (see all 104):

    BQ638622 AA598845 BF590740 AI581828 CB216055 U78581 BF590756 AL600893 
    BF591050 BM725564 AI280175 F13210 U78580 BQ006894 U78579 BG190955 
    AA694328 AL705046 AI309914 CK299479 AI089739 AI281276 AI249027 BF590418 

    GeneLoc Exon Structure

    5/6 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™, 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

    PIP5K1B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCATTGAAAG

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

    About this image

    PIP5K1B expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Definitive endoderm-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See PIP5K1B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PIP5K1B

    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PIP5K1B gene from 8/24 species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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
    --
    83(a)
    1 ↔ 1
    2(49743269-49782878)
    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)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PIPK116
    ATPIPK106
    (see all 11)
    1-phosphatidylinositol-4-phosphate 5-kinase
    (see all 11)
    22(a)
    21(a)
    (see all 11)
    many ↔ many
    many ↔ many
    (see all 11)
    1(168723-171165)
    4(504211-506131)
    rice
    (Oryza sativa)
    Liliopsida Os12g01411001 hypothetical protein 49.02(n)
    37.17(a)
      4351470  NM_001072658.1  NP_001066126.1 


    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)
    About This Section
    Paralogs for PIP5K1B gene
    PIP4K2A2  PIP4K2C2  PIP4K2B2  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, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4972 NCBI SNPs in PIP5K1B are shown (see all 4972    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs744125691,2
    --41239207(+) TATCAG/ATCCCC 1 -- us2k11Minor allele frequency- A:0.01EA 120
    rs788453861,2
    C,F,--41239546(+) TTTCCC/ACTCAG 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs123499681,2
    C,F,H,--41241997(+) TAGTTA/GTATCT 1 -- ut3115Minor allele frequency- G:0.09NS EA NA CSA WA 1870
    rs759797271,2
    C,F,--41242224(+) AATAAA/CATTTT 1 -- ut311Minor allele frequency- C:0.03WA 118
    rs736467601,2
    C,--41242526(+) TTTCTG/ACTCTG 1 -- ut311Minor allele frequency- A:0.50WA 2
    rs750647701,2
    C,--41242758(+) ATTAAG/AGGGTG 1 -- ut313Minor allele frequency- A:0.10CSA WA NA 240
    rs412874131,2
    --41243494(+) CTGTTA/GCCCCT 1 -- ut310--------
    rs120060321,2
    C,F,H,--41243657(+) TTCCTA/GCTCTT 1 -- ut3116Minor allele frequency- G:0.09NS EA NA CSA WA 1884
    rs120065491,2
    C,F,H,--41243775(+) TCTTAT/CTCTGC 1 -- ut3112Minor allele frequency- C:0.03NS EA NA CSA WA 1214
    rs2009500091,2
    C--41243842(-) TATCCA/CAAAGA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for PIP5K1B (71320575 - 71570575 bp, first 250kb of PIP5K1B)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for PIP5K1B
         2 CNVs: 5262 2820

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

    PIP5K1B for disorders           About GeneDecksing

    OMIM gene information: 602745    OMIM disorders: --

    5 diseases for PIP5K1B:    About MalaCards
    friedreich ataxia    ataxia    kidney disease    schizophrenia
    neuronitis

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

    1 Novoseek 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)

    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)
    About This Section

    PubMed articles for PIP5K1B gene, integrated from 9 sources (see all 24):
    (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. (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. (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. (1996)
    4. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    5. 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)
    6. Type I phosphatidylinositol 4-phosphate 5-kinase controls neutrophil polarity and directional movement. (PubMed id 18158329)1, 9 Lacalle R.A....Manes S. (2007)
    7. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    9. Type I phosphatidylinositol phosphate kinase beta reg ulates focal adhesion disassembly by promoting beta1 integrin endocytosis. (PubMed id 20624912)1 Chao W.T....Kunz J. (2010)
    10. Identification of novel candidate genes for treatment response to risperidone and susceptibility for schizophrenia: integrated analy sis among pharmacogenomics, mouse expression, and genetic case-control associat ion approaches. (PubMed id 19850283)1 Ikeda M....Iwata N. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 8395 HGNC: 8995 AceView: PIP5K1B Ensembl:ENSG00000107242 euGenes: HUgn8395
    ECgene: PIP5K1B Kegg: 8395 H-InvDB: PIP5K1B

    (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 PIP5K1B 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 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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