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

PIP5K1A Gene

protein-coding   GIFtS: 63
GCID: GC01P151170

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

 Explore 4 diseases affiliated with
PIP5K1A via our new
 Human Malady Compendium 
Biological research products
for PIP5K1A
    

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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Phosphatidylinositol-4-Phosphate 5-Kinase, Type I, Alpha1 2     EC 2.7.1.683 8
Phosphatidylinositol 4-Phosphate 5-Kinase Type I Alpha2 3     68 KDa Type I Phosphatidylinositol-4-Phosphate 5-Kinase Alpha2
PtdIns(4)P-5-Kinase 1 Alpha2 3     Phosphatidylinositol 4-Phosphate 5-Kinase Type-1 Alpha2
68 KDa Type I Phosphatidylinositol 4-Phosphate 5-Kinase Alpha2 3     Phosphatidylinositol-4-Phosphate 5-Kinase Type-1 Alpha2
PIP5K1-Alpha1     EC 2.7.18
PIP5KIalpha2 3     

External Ids:    HGNC: 89941   Entrez Gene: 83942   Ensembl: ENSG000001433987   OMIM: 6032755   UniProtKB: Q997553   
ORGUL members:         
NONCODE:n337394    

Export aliases for PIP5K1A gene to outside databases

Previous GC identifers: GC01P149012 GC01P146918 GC01P147946 GC01P148387 GC01P147984 GC01P149437 GC01P122549


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

UniProtKB/Swiss-Prot: PI51A_HUMAN, Q99755
Function: Catalyzes the phosphorylation of phosphatidylinositol 4-phosphate (PtdIns4P) to form phosphatidylinositol
4,5-bisphosphate (PtdIns(4,5)P2). PtdIns(4,5)P2 is involved in a variety of cellular processes and is the substrate to
form phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3), another second messenger. The majority of
PtdIns(4,5)P2 is thought to occur via type I phosphatidylinositol 4-phosphate 5-kinases given the abundance of
PtdIns4P. Participates in a variety of cellular processes such as actin cytoskeleton organization, cell adhesion,
migration and phagocytosis. Required for membrane ruffling formation, actin organization and focal adhesion formation
during directional cell migration by controlling integrin-induced translocation of RAC1 to the plasma membrane.
Together with PIP5K1C is required for phagocytosis, but they regulate different types of actin remodeling at
sequential steps. Promotes particle ingestion by activating WAS that induces Arp2/3 dependent actin polymerization at
the nascent phagocytic cup. Together with PIP5K1B is required after stimulation of G-protein coupled receptors for
stable platelet adhesion. Plays a role during calcium-induced keratinocyte differentiation. Recruited to the plasma
membrane by the E-cadherin/beta-catenin complex where it provides the substrate PtdIns(4,5)P2 for the production of
PtdIns(3,4,5)P3, diacylglycerol and inositol 1,4,5-trisphosphate that mobilize internal calcium and drive keratinocyte
differentiation. Together with PIP5K1C have a role during embryogenesis. Functions also in the nucleus where acts as
an activator of TUT1 adenylyltransferase activity in nuclear speckles, thereby regulating mRNA polyadenylation of a
select set of mRNAs

Gene Wiki entry for PIP5K1A


(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_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PIP5K1A gene promoter:
         MAZR   Sp1   FOXO3   FOXO3b   C/EBPalpha   HOXA5   FOXO3a   SEF-1 (1)   Pax-4a   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPIP5K1A promoter sequence
   Search SABiosciences Chromatin IP Primers for PIP5K1A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PIP5K1A


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

Entrez Gene cytogenetic band: 1q21.3   Ensembl cytogenetic band:  1q21.3   HGNC cytogenetic band: 1q21.3

PIP5K1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PIP5K1A gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P151170:  view genomic region     (about GC identifiers)

Start:
151,170,425 bp from pter      End:
151,222,012 bp from pter
Size:
51,588 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: PI51A_HUMAN, Q99755 (See protein sequence)
Recommended Name: Phosphatidylinositol 4-phosphate 5-kinase type-1 alpha  
Size: 562 amino acids; 62633 Da
Subunit: Interacts with RAC1 (By similarity). Interacts with TUT1. Forms a complex with CDH1/E-cadherin,
CTNNB1/beta-catenin and CTNND1 at the plasma membrane upon calcium stimulation
Subcellular location: Cell membrane. Cytoplasm (By similarity). Nucleus speckle. Cell projection, ruffle.
Note=Colocalizes with RAC1 at actin-rich membrane ruffles. Localizes to nuclear speckles and associates with TUT1 to
regulate polyadenylation of selected mRNAs
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: A8K4Q0 B4DIN0 Q99754 Q99756
Alternative splicing: 4 isoforms:  Q99755-1   Q99755-2   Q99755-3   Q99755-4   

Explore the universe of human proteins at neXtProt for PIP5K1A: NX_Q99755

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q99755

  • 4/15 DME Specific Peptides for PIP5K1A (Q99755) (see all 15)
     GIIDILQ  IMDYSLL  KTLQRDC  QKALYSTA 

    PIP5K1A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (4 alternative transcripts): 
    NP_001129108.1  NP_001129109.1  NP_001129110.1  NP_003548.1  

    ENSEMBL proteins: 
     ENSP00000401228   ENSP00000271663   ENSP00000386432   ENSP00000415648   ENSP00000357885  
     ENSP00000392780   ENSP00000357883   ENSP00000416196   ENSP00000414632   ENSP00000388800  
    Reactome Protein details: Q99755
    Human Recombinant Protein Products: 
    EMD Millipore Purified and/or Recombinant PIP5K1A Protein
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    Novus Biologicals PIP5K1A Proteins
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0005847colocalizes with mRNA cleavage and polyadenylation specificity factor complex IDA18305108


    PIP5K1A 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

    PIP5K1A 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 Q99755

    ProtoNet protein and cluster: Q99755

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

    UniProtKB/Swiss-Prot: PI51A_HUMAN, Q99755
    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: PI51A_HUMAN, Q99755
    Function: Catalyzes the phosphorylation of phosphatidylinositol 4-phosphate (PtdIns4P) to form phosphatidylinositol
    4,5-bisphosphate (PtdIns(4,5)P2). PtdIns(4,5)P2 is involved in a variety of cellular processes and is the substrate to
    form phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3), another second messenger. The majority of
    PtdIns(4,5)P2 is thought to occur via type I phosphatidylinositol 4-phosphate 5-kinases given the abundance of
    PtdIns4P. Participates in a variety of cellular processes such as actin cytoskeleton organization, cell adhesion,
    migration and phagocytosis. Required for membrane ruffling formation, actin organization and focal adhesion formation
    during directional cell migration by controlling integrin-induced translocation of RAC1 to the plasma membrane.
    Together with PIP5K1C is required for phagocytosis, but they regulate different types of actin remodeling at
    sequential steps. Promotes particle ingestion by activating WAS that induces Arp2/3 dependent actin polymerization at
    the nascent phagocytic cup. Together with PIP5K1B is required after stimulation of G-protein coupled receptors for
    stable platelet adhesion. Plays a role during calcium-induced keratinocyte differentiation. Recruited to the plasma
    membrane by the E-cadherin/beta-catenin complex where it provides the substrate PtdIns(4,5)P2 for the production of
    PtdIns(3,4,5)P3, diacylglycerol and inositol 1,4,5-trisphosphate that mobilize internal calcium and drive keratinocyte
    differentiation. Together with PIP5K1C have a role during embryogenesis. Functions also in the nucleus where acts as
    an activator of TUT1 adenylyltransferase activity in nuclear speckles, thereby regulating mRNA polyadenylation of a
    select set of mRNAs
    Catalytic activity: ATP + 1-phosphatidyl-1D-myo-inositol 4-phosphate = ADP + 1-phosphatidyl-1D-myo-inositol
    4,5-bisphosphate

         Genatlas biochemistry entry for PIP5K1A:
    phosphatidylinositol-4-phosphate-5 kinase,type 1 alpha,widely expressed,noteworthy in erythrocytes,activated by the
    small G protein ADP-ribosylation factor ARF6,and putatively involved in membrane ruffle formation

    Enzyme Numbers (IUBMB): EC 2.7.1.681 2 EC 2.7.12

    miRNA
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    8/45 QIAGEN miScript miRNA Assays for microRNAs that regulate PIP5K1A (see all 45):
    hsa-miR-323-3p hsa-miR-579 hsa-miR-3938 hsa-miR-642a hsa-miR-607 hsa-miR-3664-5p hsa-miR-1224-3p hsa-miR-1260b
    SwitchGear 3'UTR luciferase reporter plasmidPIP5K1A 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--
    GO:0016301kinase activity ----
    GO:0016307phosphatidylinositol phosphate kinase activity ----
    GO:00163081-phosphatidylinositol-4-phosphate 5-kinase activity TAS18305108


    PIP5K1A for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for PIP5K1A:
     Increased cell death HMECs cel  Increases Tamoxifen sensitivit 

    Animal Models:
         Mouse knock-out Pip5k1atm1.1Tba for PIP5K1A
         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Pip5k1a):
     endocrine/exocrine gland  hematopoietic system  mortality/aging  normal  reproductive system 

    PIP5K1A 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 - 5/25 super-pathways (see all 25About 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 CD16 signaling in NK cells
    Immune response CD16 signaling in NK cells1.00
    Immune response_CD16 signaling in NK cells0.99

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    3 EMD Millipore Pathways for PIP5K1A
        G-protein signaling RAC1 in cellular process
    Immune response CD28 signaling
    Immune response CD16 signaling in NK cells

    5/7 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PIP5K1A (see all 7)
        Rac1 Pathway
    RhoA Pathway
    Actin-Based Motility by Rho Family GTPases
    Integrin Pathway
    Aldosterone Signaling in Epithelial Cells

    1 Cell Signaling Technology (CST) Pathway for PIP5K1A
        Ca, cAMP and Lipid Signaling

    4 GeneGo (Thomson Reuters) Pathways for PIP5K1A
        Inhibitory action of Lipoxins on neutrophil migration
    G-protein signaling RAC1 in cellular process
    Immune response CD28 signaling
    Immune response CD16 signaling in NK cells

    5/11 BioSystems Pathways for PIP5K1A (see all 11
        B Cell Receptor Signaling Pathway
    3-phosphoinositide biosynthesis
    Regulation of Actin Cytoskeleton
    D-myo-inositol (1,4,5)-trisphosphate biosynthesis
    RhoA signaling pathway

    5        Reactome Pathways for PIP5K1A
        Metabolism
    Synthesis of PIPs at the plasma membrane
    Phospholipid metabolism
    Metabolism of lipids and lipoproteins
    PI Metabolism


    5/6         Kegg Pathways  (Kegg details for PIP5K1A) (see all 6):
        Inositol phosphate metabolism
    Metabolic pathways
    Phosphatidylinositol signaling system
    Endocytosis
    Fc gamma R-mediated phagocytosis


    PIP5K1A for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PIP5K1A

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

    5/59 Interacting proteins for PIP5K1A (Q997552, 3 ENSP000003578834) via UniProtKB, MINT, STRING, and/or I2D (see all 59)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CADPSQ9ULU82, 3, ENSP000003732154MINT-65290 I2D: score=4 STRING: ENSP00000373215
    BTKQ061873, ENSP000003081764I2D: score=2 STRING: ENSP00000308176
    CASP3P425743, ENSP000003110324I2D: score=2 STRING: ENSP00000311032
    PIP5KL1Q5T9C93, ENSP000003733994I2D: score=2 STRING: ENSP00000373399
    PLD2O149393, ENSP000002630884I2D: score=2 STRING: ENSP00000263088
    About this table

    Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006644phospholipid metabolic process TAS--
    GO:0006650glycerophospholipid metabolic process TAS8955136
    GO:0006661phosphatidylinositol biosynthetic process TAS--
    GO:0006909phagocytosis TAS19889969
    GO:0007165signal transduction TAS8955136


    PIP5K1A 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

    PIP5K1A for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PIP5K1A
    3 Novoseek chemical compound relationships for PIP5K1A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphatidylinositol phosphate 86.6 1 11042212 (1)
    pip2 72.2 3 11042212 (2), 12913109 (1)
    lipid 28.3 2 17623810 (2)

    Search CenterWatch for drugs/clinical trials and news about PIP5K1A / PI51A 

    (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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    About This Section

    REFSEQ mRNAs for PIP5K1A gene (4 alternative transcripts): 
    NM_001135636.1  NM_001135637.1  NM_001135638.1  NM_003557.2  

    Unigene Clusters for PIP5K1A:

    Phosphatidylinositol-4-phosphate 5-kinase, type I, alpha
    Hs.655131  [show with all ESTs], Hs.661888  [show with all ESTs]
    Unigene Representative Sequences: NM_001135638, AF085856
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000447555 ENST00000349792(uc001exj.3 uc001exi.3 uc010pcu.2 uc001exk.3)
    ENST00000409426(uc021oyo.1) ENST00000441902 ENST00000368890(uc010pcv.2)
    ENST00000424999 ENST00000368888 ENST00000454769 ENST00000418435 ENST00000468772
    ENST00000461816 ENST00000481713 ENST00000486048 ENST00000464105 ENST00000460157
    ENST00000486866 ENST00000489625 ENST00000414290

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    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PIP5K1A

    Additional cDNA sequence: AF085856.1 

    22 DOTS entries:

    DT.100787647  DT.452324  DT.92442101  DT.95298809  DT.92068195  DT.121363780  DT.86854573  DT.91963498 
    DT.95298781  DT.100802965  DT.121363793  DT.75169856  DT.91639857  DT.91795726  DT.95298812  DT.100787650 
    DT.100787652  DT.121351949  DT.121363785  DT.121363830  DT.91651375  DT.95081455 

    24/234 AceView cDNA sequences (see all 234):

    CR596609 U78578 BM562816 AW079631 AI654610 BQ930009 AA653195 AI093380 
    BX952930 BF223783 BQ962454 BG150566 AA903639 AU126052 BU849623 BP357708 
    BE222047 CA396771 BC007833 BP375160 U78575 AI299653 U78577 CA419881 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for PIP5K1A (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for PIP5K1A

    (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

    PIP5K1A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTTTTACAA

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

    About this image

    PIP5K1A expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Skeletal MuscleHyoid Arch MusclesMononuclear MyocytesSkeletal Muscle
    Skeletal MuscleMandibular Arch MusclesMononuclear MyocytesSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See PIP5K1A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PIP5K1A

    SOURCE GeneReport for Unigene clusters: Hs.655131 Hs.661888

    UniProtKB/Swiss-Prot: PI51A_HUMAN, Q99755
    Tissue specificity: Highly expressed in heart, placenta, skeletal muscle, kidney and pancreas. Detected at lower levels
    in brain, lung and liver

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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 PIP5K1A gene from 8/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves PIP5K1A6
    --
    47(a)
    1 ↔ 1
    25(1857856-1875203)
    lizard
    (Anolis carolinensis)
    Reptilia PIP5K1A6
    --
    79(a)
    1 ↔ 1
    GL343668.1(31042-65484)
    African clawed frog
    (Xenopus laevis)
    Amphibia AY062923.12   -- 78.43(n)    AY062923.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pip5k1ab1 phosphatidylinositol-4-phosphate 5-kinase, type I, alpha, b less 67.37(n)
    76.21(a)
      492549  NM_001089353.1  NP_001082822.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sktl3
    PIP5K59B1
    peripheral nervous system development
    1-phosphatidylinositol-4-phosphate 5-kinase less3
    CG3682-PA1
    53(a)3
    59.77(n)1
    63.49(a)1
      2 57B33
    376331  NM_137885.31  NP_611729.21 
    worm
    (Caenorhabditis elegans)
    Secernentea ppk-11 , 3 Protein PPK-11 57(a)3
    56.69(n)1
    61.13(a)1
      I(5358529-5364151)3
    1721841  NM_059175.31  NP_491576.21 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PIPK116
    ATPIPK106
    (see all 11)
    1-phosphatidylinositol-4-phosphate 5-kinase
    (see all 11)
    22(a)
    22(a)
    (see all 11)
    many ↔ many
    many ↔ many
    (see all 11)
    1(168723-171165)
    4(504211-506131)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 9)
    phosphatidylinositol-4-phosphate 5-kinase, putativ...
    phosphatidylinositol-4-phosphate 5-kinase, putativ...
    (see all 9)
    30(a)
    25(a)
    (see all 9)
    many ↔ many
    many ↔ many
    (see all 9)
    3(13718533-13722028)
    3(8557683-8561739)


    ENSEMBL Gene Tree for PIP5K1A (if available)
    TreeFam Gene Tree for PIP5K1A (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PIP5K1A gene
    PIP4K2A2  PIP5K1B2  PIP4K2C2  PIP4K2B2  PIP5K1C2  PIP5KL12  
    7 SIMAP similar genes for PIP5K1A using alignment to 7 protein entries:     PI51A_HUMAN (see all proteins):
    PIPSL    PIP5K1B    PIP5K1C    STM7    PIP4K2A    PIP4K2B
    PIP4K2C

    PIP5K1A for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for PIP5K1A
    PGOHUM00000251253 PGOHUM00000243483 PGOHUM00000233661


    (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

    10/30 NCBI SNPs in PIP5K1A are shown (see all 30    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs454743991,2
    --122600174(+) CTTGCC/TTAGGT 4 -- int10--------
    rs1145654071,2
    F,--151178141(+) TGGTGG/ACGTGC 1 -- int11Minor allele frequency- A:0.02WA 118
    rs1395695621,2
    --151178148(+) GTGCTC/TGTGTA 1 -- int10--------
    rs781559661,2
    C--151189377(+) AAATG-/TTTTTTTTT
    TTTTTTTTTTTT
    TTTTT
    4 -- int10--------
    rs57777671,2
    C,F--151191308(+) AAAAAA/-GGCCA 1 -- int1 trp32Minor allele frequency- -:0.50NA 4
    rs1914693181,2
    --151198921(+) AGTGCC/GTCACA 1 -- int10--------
    rs1836468391,2
    --151198986(+) AGTTCA/GAGACT 1 -- int10--------
    rs1921958911,2
    --151202004(+) GGATAA/GTTTTG 1 -- int10--------
    rs1119685321,2
    C,--151202068(+) CTGACC/TTCAGG 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs168279411,2
    C,F,H,--151202167(+) ATTAAC/GATAAA 1 -- int114Minor allele frequency- G:0.40NA NS EA WA CSA 876

    HapMap Linkage Disequilibrium report for PIP5K1A (151170425 - 151222012 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PIP5K1A: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PIP5K1A
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    (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.)
    About This Section

    PIP5K1A for disorders           About GeneDecksing

    OMIM gene information: 603275    OMIM disorders: --

    4 diseases for PIP5K1A:    About MalaCards
    prostate cancer    breast cancer    prostatitis    neuronitis


    Export disorders for PIP5K1A 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 PIP5K1A gene, integrated from 9 sources (see all 48):
    (articles sorted by number of sources associating them with PIP5K1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Type I phosphatidylinositol-4-phosphate 5-kinases are distinct members of this novel lipid kinase family. (PubMed id 8955136)1, 2, 3, 9 Loijens J.C. and Anderson R.A. (1996)
    2. Assignment of type I phosphatidylinositol-4-phosphate 5-kinase (PIP5K1A) to human chromosome bands 1q22--> q24 by in situ hybridization. (PubMed id 10828584)1, 3, 9 Xie Y....Zhao G. (2000)
    3. Type I PIPK-alpha regulates directed cell migration b y modulating Rac1 plasma membrane targeting and activation. (PubMed id 20660631)1, 2 Chao W.T....Kunz J. (2010)
    4. Phosphatidylinositol-4-phosphate 5-kinase 1alpha mediates extracellular calcium-induced keratinocyte differentiation. (PubMed id 19158393)1, 2 Xie Z....Bikle D.D. (2009)
    5. A PtdIns4,5P2-regulated nuclear poly(A) polymerase controls expression of select mRNAs. (PubMed id 18288197)1, 2 Mellman D.L....Anderson R.A. (2008)
    6. Quantitative analysis of global ubiquitination in HeLa cells by mass spectrometry. (PubMed id 18781797)1, 2 Meierhofer D.... Kaiser P. (2008)
    7. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    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. (2004)
    9. Regulation of apoptosis by phosphatidylinositol 4,5-bisphosphate inhibition of caspases, and caspase inactivation of phosphatidylinositol phosphate 5-kinases. (PubMed id 11042212)1, 9 Mejillano M....Yin H.L. (2001)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 8394 HGNC: 8994 AceView: PIP5K1A Ensembl:ENSG00000143398 euGenes: HUgn8394
    ECgene: PIP5K1A Kegg: 8394 H-InvDB: PIP5K1A

    (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 PIP5K1A 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 PIP5K1A gene:
    Search GeneIP for patents involving PIP5K1A

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



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