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PIP5K1C Gene

protein-coding   GIFtS: 67
GCID: GC19M003631

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

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Phosphatidylinositol-4-Phosphate 5-Kinase, Type I, Gamma1 2     Diphosphoinositide Kinase2
Phosphatidylinositol 4-Phosphate 5-Kinase Type I Gamma2 3     Human Homolog Of Mouse Phosphatidylinositol-4-Phosphate 5-Kinase I-Gamma2
PtdIns(4)P-5-Kinase 1 Gamma2 3     Phosphatidylinositol 4-Phosphate 5-Kinase Type-1 Gamma2
PIP5K1-gamma2 3     Phosphatidylinositol-4-Phosphate 5-Kinase Type-1 Gamma2
EC 2.7.1.683 8     Type I PIP Kinase2
LCCS32 5     KIAA05893
PIP5K-GAMMA2     PIP5KIgamma3
PIP5Kgamma2     EC 2.7.18
PIPKIg_v42     

External Ids:    HGNC: 89961   Entrez Gene: 233962   Ensembl: ENSG000001861117   OMIM: 6061025   UniProtKB: O603313   

Export aliases for PIP5K1C gene to outside databases

Previous GC identifers: GC19M003722 GC19M003570 GC19M003581 GC19M003395


(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 PIP5K1C Gene:
This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes
phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme
is found at synapses and has been found to play roles in endocytosis and cell migration. Mutations at this locus
have been associated with lethal congenital contractural syndrome. Alternatively spliced transcript variants
encoding different isoforms have been described.(provided by RefSeq, Sep 2010)

GeneCards Summary for PIP5K1C Gene:
PIP5K1C (phosphatidylinositol-4-phosphate 5-kinase, type I, gamma) is a protein-coding gene. Diseases associated with PIP5K1C include lethal congenital contractural syndrome 3, and congenital contractures. 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: PI51C_HUMAN, O60331
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 vesicle
mediated transport, cell adhesion, cell polarization and cell migration. Together with PIP5K1A is required for
phagocytosis, but they regulate different types of actin remodeling at sequential steps. Promotes particle
attachment by generating the pool of PtdIns(4,5)P2 that induces controlled actin depolymerization to facilitate
Fc-gamma-R clustering. Mediates RAC1-dependent reorganization of actin filaments. Required for synaptic vesicle
transport. Controls the plasma membrane pool of PtdIns(4,5)P2 implicated in synaptic vesicle endocytosis and
exocytosis. Plays a role in endocytosis mediated by clathrin and AP-2 (adaptor protein complex 2). Required for
clathrin-coated pits assembly at the synapse. Participates in cell junction assembly. Modulates adherens
junctions formation by facilitating CDH1 trafficking. Required for focal adhesion dynamics. Modulates the
targeting of talins (TLN1 and TLN2) to the plasma membrane and their efficient assembly into focal adhesions.
Regulates the interaction between talins (TLN1 and TLN2) and beta-integrins. Required for uropodium formation and
retraction of the cell rear during directed migration. Has a role in growth factor- stimulated directional cell
migration and adhesion. Required for talin assembly into nascent adhesions forming at the leading edge toward the
direction of the growth factor. Negative regulator of T-cell activation and adhesion. Negatively regulates
integrin alpha-L/beta-2 (LFA-1) polarization and adhesion induced by T-cell receptor. Together with PIP5K1A have
a role during embryogenesis and together with PIP5K1B may have a role immediately after birth

Gene Wiki entry for PIP5K1C 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_000019.10  NT_011295.12  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PIP5K1C gene promoter:
         Max1   AP-2alpha isoform 3   ATF-2   AP-2alpha isoform 2   AP-2alpha isoform 4   c-Jun   AP-2alpha   c-Myc   AP-2alphaA   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPIP5K1C promoter sequence
   Search Chromatin IP Primers for PIP5K1C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PIP5K1C


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

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

PIP5K1C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PIP5K1C gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M003631:  view genomic region     (about GC identifiers)

Start:
3,630,179 bp from pter      End:
3,700,477 bp from pter
Size:
70,299 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PI51C_HUMAN, O60331 (See protein sequence)
Recommended Name: Phosphatidylinositol 4-phosphate 5-kinase type-1 gamma  
Size: 668 amino acids; 73260 Da
Subunit: Interacts with TLN1 (By similarity). Interacts with TLN2; interaction stimulates lipid kinase activity.
May compete with beta-integrins for the same binding site on TLN1 and TLN2. Interacts with ARF6. Interacts with
AP2B1. Interacts with AP2M1; phosphorylation of PIP5K1C by CSK disrupts the interaction; clathrin competes with
PIP5K1C (By similarity). Interacts with CDH1. Interacts with CSK (By similarity). Interacts with PLCG1;
interaction is abolished upon EGF stimulation (By similarity)
Sequence caution: Sequence=BAA25515.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
2 PDB 3D structures from and Proteopedia for PIP5K1C:
3H1Z (3D)        3H85 (3D)    
Secondary accessions: B7Z9E7 C6GIJ7 C6GIJ8 Q7LE07
Alternative splicing: 4 isoforms:  O60331-1   O60331-2   O60331-3   O60331-4   

Explore the universe of human proteins at neXtProt for PIP5K1C: NX_O60331

Explore proteomics data for PIP5K1C at MOPED

Post-translational modifications: 

  • Phosphorylation on Ser-650 negatively regulates binding to TLN2 and is strongly stimulated in mitosis.
    Phosphorylation on Tyr-649 is necessary for targeting to focal adhesions. Phosphorylation on Ser-650 and Tyr-649
    are mutually exclusive. Phosphorylated by SYK and CSK (By similarity). Tyrosine phosphorylation is enhanced by
    PTK2 signaling. Phosphorylated at Tyr-639 upon EGF stimulation. Some studies suggest that phosphorylation on
    Tyr-649 enhances binding to tailins (TLN1 and TLN2). According to PubMed:15738269 phosphorylation at Tyr-649 does
    not directly enhance binding to tailins (TLN1 and TLN2) but may act indirectly by inhibiting phosphorylation at
    Ser-6501
  • Acetylation at Lys-265 and Lys-268 seems to decrease lipid kinase activity. Deacetylation of these sites by SIRT1
    positively regulates the exocytosis of TSH-containing granules from pituitary cells1
  • Ubiquitination2 at Lys97, Lys414
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PIP5K1C (O60331) (see all 18)
     GIIDILQ  DYSLLLG  IMDYSLL  ESGAAAG 


    See PIP5K1C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001182662.1  NP_036530.1  

    ENSEMBL proteins: 
     ENSP00000335333   ENSP00000445992   ENSP00000466363   ENSP00000444779  
    Reactome Protein details: O60331

    PIP5K1C Human Recombinant Protein Products:

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    Novus Biologicals PIP5K1C Proteins
    Novus Biologicals PIP5K1C Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

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    Abcam antibodies for PIP5K1C
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    LSBio Antibodies in human, mouse, rat for PIP5K1C

    PIP5K1C Assay Products:

    Browse Kits and Assays available from EMD Millipore
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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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    IUPHAR Guide to PHARMACOLOGY protein family classification: phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
    1-phosphatidylinositol-4-phosphate 5-kinase family

    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 O60331

    ProtoNet protein and cluster: O60331

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

    UniProtKB/Swiss-Prot: PI51C_HUMAN, O60331
    Similarity: Contains 1 PIPK domain


    PIP5K1C 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: PI51C_HUMAN, O60331
    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 vesicle
    mediated transport, cell adhesion, cell polarization and cell migration. Together with PIP5K1A is required for
    phagocytosis, but they regulate different types of actin remodeling at sequential steps. Promotes particle
    attachment by generating the pool of PtdIns(4,5)P2 that induces controlled actin depolymerization to facilitate
    Fc-gamma-R clustering. Mediates RAC1-dependent reorganization of actin filaments. Required for synaptic vesicle
    transport. Controls the plasma membrane pool of PtdIns(4,5)P2 implicated in synaptic vesicle endocytosis and
    exocytosis. Plays a role in endocytosis mediated by clathrin and AP-2 (adaptor protein complex 2). Required for
    clathrin-coated pits assembly at the synapse. Participates in cell junction assembly. Modulates adherens
    junctions formation by facilitating CDH1 trafficking. Required for focal adhesion dynamics. Modulates the
    targeting of talins (TLN1 and TLN2) to the plasma membrane and their efficient assembly into focal adhesions.
    Regulates the interaction between talins (TLN1 and TLN2) and beta-integrins. Required for uropodium formation and
    retraction of the cell rear during directed migration. Has a role in growth factor- stimulated directional cell
    migration and adhesion. Required for talin assembly into nascent adhesions forming at the leading edge toward the
    direction of the growth factor. Negative regulator of T-cell activation and adhesion. Negatively regulates
    integrin alpha-L/beta-2 (LFA-1) polarization and adhesion induced by T-cell receptor. Together with PIP5K1A have
    a role during embryogenesis and together with PIP5K1B may have a role immediately after birth
    Catalytic activity: ATP + 1-phosphatidyl-1D-myo-inositol 4-phosphate = ADP + 1-phosphatidyl-1D-myo-inositol
    4,5-bisphosphate
    Enzyme regulation: Activated by interaction with TLN2

         Genatlas biochemistry entry for PIP5K1C:
    phosphatidylinositol-4-phosphate 5-kinase,type I,gamma,highly expressed in the brain,lung and kidney

         Enzyme Numbers (IUBMB): EC 2.7.1.681 2 EC 2.7.12

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0005524ATP binding IEA--
    GO:0016307phosphatidylinositol phosphate kinase activity ----
    GO:00163081-phosphatidylinositol-4-phosphate 5-kinase activity IEA--
    GO:1990147talin binding IEA--
         
    PIP5K1C for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PIP5K1C:
     Decreased Tat-dependent transc  Decreased viability with TRAIL 

         12 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Pip5k1c):
     behavior/neurological  cardiovascular system  cellular  embryogenesis  growth/size/body 
     hematopoietic system  homeostasis/metabolism  immune system  integument  mortality/aging 
     nervous system  normal 

    PIP5K1C for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PIP5K1C: Pip5k1ctm1Pdc Pip5k1ctm2.1Ref

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PIP5K1C
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PIP5K1C

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PIP5K1C
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PIP5K1C

    miRNA
    Products:
        
    miRTarBase miRNAs that target PIP5K1C:
    hsa-mir-193b-3p (MIRT041364), hsa-mir-101-3p (MIRT027379), hsa-mir-26b-5p (MIRT030015), hsa-mir-32-5p (MIRT028353)

    Block miRNA regulation of human, mouse, rat PIP5K1C using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PIP5K1C (see all 27):
    hsa-miR-125a-5p hsa-miR-496 hsa-miR-25 hsa-miR-219-5p hsa-miR-431 hsa-miR-340 hsa-miR-499-5p hsa-miR-144
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): PIP5K1C (NM_001195733)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PIP5K1C


    (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
    PI51C_HUMAN, O60331: Cell membrane; Peripheral membrane protein; Cytoplasmic side. Endomembrane system.
    Cytoplasm. Cell junction, focal adhesion. Cell junction, adherens junction. Cell projection, ruffle membrane.
    Cell projection, phagocytic cup. Cell projection, uropodium. Note=Detected in plasma membrane invaginations.
    Isoform 3 is detected in intracellular vesicle-like structures
    PI51C_HUMAN, O60331: Isoform 2: Cytoplasm. Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    plasma membrane5
    cytosol4
    cytoskeleton1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001891phagocytic cup IEA--
    GO:0001931uropod TAS19889969
    GO:0005634nucleus IEA--
    GO:0005829cytosol TAS--
    GO:0005925focal adhesion TAS19889969

    PIP5K1C 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 PIP5K1C About   (see all 31)  
    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
    4Focal adhesion
    Focal adhesion0.65
    Focal Adhesion0.65
    5Regulation of actin cytoskeleton
    Regulation of actin cytoskeleton0.57
    Regulation of Actin Cytoskeleton0.57

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PIP5K1C (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 PIP5K1C
        Ca, cAMP and Lipid Signaling

    Selected GeneGo (Thomson Reuters) Pathways for PIP5K1C (see all 6)
        Cytoskeleton remodeling Integrin outside-in signaling
    Cell adhesion Integrin-mediated cell adhesion and migration
    Cell adhesion Integrin inside-out signaling
    Inhibitory action of Lipoxins on neutrophil migration
    G-protein signaling RAC1 in cellular process

    Selected BioSystems Pathways for PIP5K1C (see all 14)
        Focal Adhesion
    Regulation of Actin Cytoskeleton
    B Cell Receptor Signaling Pathway
    3-phosphoinositide biosynthesis
    D-myo-inositol (1,4,5)-trisphosphate biosynthesis

    2 Reactome Pathways for PIP5K1C
        Synthesis of PIPs at the plasma membrane
    SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion


    Selected Kegg Pathways  (Kegg details for PIP5K1C) (see all 7):
        Inositol phosphate metabolism
    Metabolic pathways
    Phosphatidylinositol signaling system
    Endocytosis
    Focal adhesion


    PIP5K1C for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including PIP5K1C: 
              Focal Adhesions in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for PIP5K1C

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

    Selected Interacting proteins for PIP5K1C (O603313 ENSP000003353334) via UniProtKB, MINT, STRING, and/or I2D (see all 126)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BTKQ061873, ENSP000003081764I2D: score=2 STRING: ENSP00000308176
    AP1B1Q105673, ENSP000003501994I2D: score=1 STRING: ENSP00000350199
    AP2B1P630103, ENSP000003144144I2D: score=1 STRING: ENSP00000314414
    CDH2P190223, ENSP000002691414I2D: score=1 STRING: ENSP00000269141
    CDK5Q005353, ENSP000002975184I2D: score=1 STRING: ENSP00000297518
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006644phospholipid metabolic process TAS--
    GO:0006661phosphatidylinositol biosynthetic process TAS--
    GO:0006909phagocytosis TAS19889969
    GO:0007016cytoskeletal anchoring at plasma membrane IEA--
    GO:0007409axonogenesis ----

    PIP5K1C 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 PIP5K1C (PI51C)

    3 HMDB Compounds for PIP5K1C    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--

    1 Novoseek inferred chemical compound relationship for PIP5K1C gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphocellulose 79.1 1 2170402 (1)



    PIP5K1C 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 PIP5K1C gene (2 alternative transcripts): 
    NM_001195733.1  NM_012398.2  

    Unigene Cluster for PIP5K1C:

    Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
    Hs.282177  [show with all ESTs]
    Unigene Representative Sequence: NM_012398
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000335312(uc002lyj.2 uc010xhq.2) ENST00000539785 ENST00000589578
    ENST00000537021(uc010xhr.2) ENST00000592530 ENST00000587482

    miRNA
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    Additional mRNA sequence: 

    AB011161.1 AK301309.1 AK315912.1 BC004149.2 BC011138.1 FJ965536.1 FJ965537.1 

    5 DOTS entries:

    DT.40289579  DT.92446669  DT.95163495  DT.95163494  DT.95163496 

    Selected AceView cDNA sequences (see all 164):

    AI651146 BM674100 BM455652 BM670711 M78980 AA579055 BM678334 AI215872 
    T31546 CA306750 BQ641353 AA884699 BM548702 BE018903 BG254542 BC004149 
    AB011161 CB153712 AA432088 H67626 BF725013 BC011138 NM_012398 BI030540 

    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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    PIP5K1C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTACTGTCTC
    PIP5K1C Expression
    About this image


    PIP5K1C expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Brain (Nervous System)
             Cerebral Cortex
    PIP5K1C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PIP5K1C Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.282177

    UniProtKB/Swiss-Prot: PI51C_HUMAN, O60331
    Tissue specificity: Isoform 1 is strongly expressed in brain and also detected in heart and lung. Isoform 2 is
    strongly expressed in pancreas and liver and in lesser quantities in brain, heart, lung and kidney. Isoform 3 is
    detected in large amounts in heart and large intestine, is also present in lung, pancreas and thyroid, and to a
    lesser extent in brain, stomach and kidney

        Pathway & Disease-focused RT2 Profiler PCR Array including PIP5K1C: 
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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 PIP5K1C gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pip5k1c1 , 5 phosphatidylinositol-4-phosphate 5-kinase, type 1 gamma1, 5 87.41(n)1
    93.17(a)1
      10 (39.72 cM)5
    187171  NM_008844.21  NP_032870.21 
     812929635 
    chicken
    (Gallus gallus)
    Aves PIP5K1C1 phosphatidylinositol-4-phosphate 5-kinase, type I, more 79.39(n)
    89.14(a)
      420072  XM_418191.4  XP_418191.4 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pip5k1c1 phosphatidylinositol-4-phosphate 5-kinase, type I, more 72.47(n)
    83.61(a)
      100145583  NM_001127002.1  NP_001120474.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pip5k1cb1 phosphatidylinositol-4-phosphate 5-kinase, type I, more 72.97(n)
    76.84(a)
      100536224  XM_005163645.1  XP_005163702.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sktl3 peripheral nervous system development
    1-phosphatidylinositol-4-phosphate
    more
    51(a)   2 57B3   --
    worm
    (Caenorhabditis elegans)
    Secernentea ppk-13   -- 55(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


    ENSEMBL Gene Tree for PIP5K1C (if available)
    TreeFam Gene Tree for PIP5K1C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PIP5K1C gene
    PIP4K2A2  PIP5K1B2  PIP4K2B2  PIP4K2C2  PIP5KL12  PIP5K1A2  
    7 SIMAP similar genes for PIP5K1C using alignment to 1 protein entry:     PI51C_HUMAN:
    PIPSL    PIP5K1A    PIP5K1B    STM7    PIP4K2A    PIP4K2B
    PIP4K2C

    PIP5K1C for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for PIP5K1C
    PGOHUM00000233660


    (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 PIP5K1C (see all 1836)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0369964
    Lethal congenital contracture syndrome 3 (LCCS3)4--see VAR_0369962 D N mis40--------
    rs1457884671,2
    --3554493(+) TGGGCA/GGATCA 2 -- ds50010--------
    rs1843166531,2
    --3554499(+) GATCAC/TGAGGT 2 -- ds50010--------
    rs81027551,2
    C,F--3554519(+) gagacG/Catcct 2 -- ds50011Minor allele frequency- C:0.50WA 2
    rs19663721,2
    C,F,A,H--3554559(+) aaaaaC/Taaaaa 2 -- ds50019Minor allele frequency- T:0.24NA WA CSA 17
    rs1881233391,2
    --3554575(+) CTGGGA/CGTGGT 2 -- ds50010--------
    rs1383556971,2
    --3554589(+) GGGCGA/CCTGTA 2 -- ds50010--------
    rs1808660661,2
    --3554760(+) AAACAC/TAGAAC 2 -- ds50010--------
    rs1427422731,2
    --3554799(+) CCTCCA/GGAACC 2 -- ds50010--------
    rs1872579851,2
    --3555009(+) TGTCAC/TGCACC 2 -- ut310--------

    HapMap Linkage Disequilibrium report for PIP5K1C (3630179 - 3700477 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PIP5K1C (see all 28):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2717965CNV Deletion23290073
    esv2717957CNV Deletion23290073
    esv2717964CNV Deletion23290073
    esv2717955CNV Deletion23290073
    esv2717967CNV Deletion23290073
    esv1403607CNV Deletion17803354
    dgv535e201CNV Deletion23290073
    dgv534e201CNV Deletion23290073
    esv2717963CNV Deletion23290073
    dgv533e201CNV Deletion23290073

    Human Gene Mutation Database (HGMD): PIP5K1C
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PIP5K1C
    DNA2.0 Custom Variant and Variant Library Synthesis for PIP5K1C

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606102   
    OMIM disorders: 611369  
    UniProtKB/Swiss-Prot: PI51C_HUMAN, O60331
  • Lethal congenital contracture syndrome 3 (LCCS3) [MIM:611369]: A form of lethal congenital contracture
    syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme
    skeletal muscle atrophy, and congenital non-progressive joint contractures (arthrogryposis). The contractures can
    involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension
    limitations evident at birth. LCCS3 patients present at birth with severe multiple joint contractures and severe
    muscle wasting and atrophy, mainly in the legs. Death occurs minutes to hours after birth due to respiratory
    insufficiency. The phenotype can be distinguished from that of LCCS1 by the absence of hydrops, fractures and
    multiple pterygia, and from LCCS2 by the absence of neurogenic bladder defect. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 11 diseases for PIP5K1C:    
    About MalaCards
    lethal congenital contractural syndrome 3    congenital contractures    neurogenic bladder    labyrinthitis
    thyroiditis    hiv-1    multiple myeloma    myeloma
    breast cancer    cerebritis    neuronitis


    PIP5K1C for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Genetic Association Database (GAD): PIP5K1C
    Human Genome Epidemiology (HuGE) Navigator: PIP5K1C (1 document)

    Export disorders for PIP5K1C 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 PIP5K1C gene, integrated from 10 sources (see all 56):
    (articles sorted by number of sources associating them with PIP5K1C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. SIRT1 regulates thyroid-stimulating hormone release by enhancing PIP5Kgamma activity through deacetylation of specific lysine residues in mammals. (PubMed id 20668706)1, 2 Akieda-Asai S.... Setou M. (PLoS ONE 2010)
    2. PIP5K-driven PtdIns(4,5)P2 synthesis: regulation and cellular functions. (PubMed id 19889969)1, 2 van den Bout I. and Divecha N. (J. Cell Sci. 2009)
    3. Two novel phosphatidylinositol-4-phosphate 5-kinase type Igamma splice variants expressed in human cells display distinctive cellular targeting. (PubMed id 19548880)1, 2 Schill N.J. and Anderson R.A. (Biochem. J. 2009)
    4. Type I gamma phosphatidylinositol phosphate kinase is required for EGF-stimulated directional cell migration. (PubMed id 17635937)1, 2 Sun Y.... Anderson R.A. (J. Cell Biol. 2007)
    5. Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinositol pathway. (PubMed id 17701898)1, 2 Narkis G.... Birk O.S. (Am. J. Hum. Genet. 2007)
    6. Type I gamma phosphatidylinositol phosphate kinase modulates adherens junction and E-cadherin trafficking via a direct interaction with mu 1B adaptin. (PubMed id 17261850)1, 2 Ling K....Anderson R.A. (J. Cell Biol. 2007)
    7. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (Nature 2004)
    8. ARF6 stimulates clathrin/AP-2 recruitment to synaptic membranes by activating phosphatidylinositol phosphate kinase type Igamma. (PubMed id 12847086)1, 2 Krauss M.... Haucke V. (J. Cell Biol. 2003)
    9. Recruitment and regulation of phosphatidylinositol phosphate kinase type 1 gamma by the FERM domain of talin. (PubMed id 12422219)1, 2 Di Paolo G.... De Camilli P. (Nature 2002)
    10. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9628581)1, 2 Nagase T....Ohara O. (DNA Res. 1998)

    (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: 23396 HGNC: 8996 AceView: PIP5K1C Ensembl:ENSG00000186111 euGenes: HUgn23396
    ECgene: PIP5K1C Kegg: 23396 H-InvDB: PIP5K1C

    (According to HUGE)
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    HUGE: KIAA0589

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for PIP5K1C 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 PIP5K1C gene:
    Search GeneIP for patents involving PIP5K1C

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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