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PLCH1 Gene

protein-coding   GIFtS: 59
GCID: GC03M155094

Phospholipase C, Eta 1

(Previous name: phospholipase C-like 3)
(Previous symbol: PLCL3)
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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
Phospholipase C, Eta 11 2     EC 3.1.4.113 8
PLCL31 2 3 5     KIAA10693 5
Phospholipase C-Like 31 2     1-Phosphatidylinositol 4,5-Bisphosphate Phosphodiesterase Eta-12
Phosphoinositide Phospholipase C-Eta-12 3     1-Phosphatidylinositol-4,5-Bisphosphate Phosphodiesterase Eta-12
Phospholipase C-Eta-12 3     Phospholipase C-Eta1a2
Phospholipase C-Like Protein 32 3     Phospholipase C-Eta1b2
PLC-L32 3     PLC Eta 12
PLC-eta-12 3     

External Ids:    HGNC: 291851   Entrez Gene: 230072   Ensembl: ENSG000001148057   OMIM: 6128355   UniProtKB: Q4KWH83   

Export aliases for PLCH1 gene to outside databases

Previous GC identifers: GC03M156577 GC03M156680 GC03M152592


(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 PLCH1 Gene:
PLCH1 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of
enzymes that cleave phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) to generate second messengers inositol
1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) (Hwang et al., 2005 (PubMed 15702972)).(supplied by OMIM, Jun
2009)

GeneCards Summary for PLCH1 Gene:
PLCH1 (phospholipase C, eta 1) is a protein-coding gene. GO annotations related to this gene include signal transducer activity and calcium ion binding. An important paralog of this gene is PLCD4.

UniProtKB/Swiss-Prot: PLCH1_HUMAN, Q4KWH8
Function: The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate
(IP3) is mediated by calcium-activated phosphatidylinositol-specific phospholipase C enzymes

summary for PLCH1 Gene:
Phospholipases are a group of enzymes that hydrolyze phospholipids into fatty acids and other lipophilic
molecules. PLC is subdivided into beta, gamma, delta, epsilon, zeta and eta subtypes, which catalyze the
hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) to inositol 1,4,5-trisphosphate (IP3) and
1,2-diacylglycerol (DAG). IP3 and DAG both have important second messenger functions. PLC-beta is primarily
activated by Gq/11 proteins and PLC-gamma is activated by phosphorylation in response to a variety of growth
factor and immune system signals. Phospholipases are ubiquitously expressed and have diverse biological
functions including roles in inflammation, cell growth, signaling and death and maintenance of membrane
phospholipids.




(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 at NCBI GenBank:
NC_000003.11  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PLCH1 gene promoter:
         c-Fos   AP-1   POU6F1 (c2)   CUTL1   C/EBPalpha   AREB6   FOXO4   FOXO1a   c-Jun   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPLCH1 promoter sequence
   Search Chromatin IP Primers for PLCH1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PLCH1


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

Entrez Gene cytogenetic band: 3q25.31   Ensembl cytogenetic band:  3q25.31   HGNC cytogenetic band: 3q25

PLCH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PLCH1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M155094:  view genomic region     (about GC identifiers)

Start:
155,093,369 bp from pter      End:
155,462,856 bp from pter
Size:
369,488 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PLCH1_HUMAN, Q4KWH8 (See protein sequence)
Recommended Name: 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1  
Size: 1693 amino acids; 189223 Da
Cofactor: Calcium
Sequence caution: Sequence=BAB14129.1; Type=Erroneous initiation;
Secondary accessions: Q29RV9 Q4KWH9 Q68CN0 Q86XK4 Q9H9U2 Q9UPT3
Alternative splicing: 4 isoforms:  Q4KWH8-1   Q4KWH8-2   Q4KWH8-3   Q4KWH8-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PLCH1: NX_Q4KWH8

Explore proteomics data for PLCH1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for PLCH1 (Q4KWH8)
     CGYVLKP  SSHNTYL  HGYTLTSK  ELSDLVVY 


    See PLCH1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001124432.1  NP_001124433.1  NP_055811.1  

    ENSEMBL proteins: 
     ENSP00000419100   ENSP00000417502   ENSP00000402759   ENSP00000345988   ENSP00000335469  
     ENSP00000412977  
    Reactome Protein details: Q4KWH8

    PLCH1 Human Recombinant Protein Products:

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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online peptides for PLCH1

    PLCH1 Antibody Products:

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    antibodies-online antibodies for PLCH1 (6 products) 

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for PLCH1 
    antibodies-online kits for PLCH1 (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    EFHAND: EF-hand domain containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: PLCeta1
    Phosphoinositide-specific phospholipase C

    Selected InterPro protein domains (see all 12):
     IPR015359 PLipase_C_EF-hand-like
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR001192 PI-PLC_fam
     IPR001849 Pleckstrin_homology

    Graphical View of Domain Structure for InterPro Entry Q4KWH8

    ProtoNet protein and cluster: Q4KWH8

    2 Blocks protein domains:
    IPB000008 C2 domain
    IPB000909 Phosphatidylinositol-specific phospholipase C


    UniProtKB/Swiss-Prot: PLCH1_HUMAN, Q4KWH8
    Similarity: Contains 1 C2 domain
    Similarity: Contains 2 EF-hand domains
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 PI-PLC X-box domain
    Similarity: Contains 1 PI-PLC Y-box domain


    Find genes that share domains with PLCH1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PLCH1_HUMAN, Q4KWH8
    Function: The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate
    (IP3) is mediated by calcium-activated phosphatidylinositol-specific phospholipase C enzymes
    Catalytic activity: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1D-myo-inositol 1,4,5-trisphosphate
    + diacylglycerol

         Enzyme Number (IUBMB): EC 3.1.4.111 2

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004435phosphatidylinositol phospholipase C activity IEA--
    GO:0004871signal transducer activity IEA--
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
    GO:0008081phosphoric diester hydrolase activity ----
         
    Find genes that share ontologies with PLCH1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for PLCH1:
     Synthetic lethal with c-Myc af 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PLCH1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PLCH1
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    miRNA
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    Block miRNA regulation of human, mouse, rat PLCH1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PLCH1 (see all 25):
    hsa-miR-411* hsa-miR-3685 hsa-miR-495 hsa-miR-379* hsa-miR-520d-5p hsa-miR-2110 hsa-miR-128 hsa-miR-944
    SwitchGear 3'UTR luciferase reporter plasmidPLCH1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PLCH1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 3): PLCH1 (NM_014996)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PLCH1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLCH1


    (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
    PLCH1_HUMAN, Q4KWH8: Cytoplasm. Membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    plasma membrane4
    cytosol3
    cytoskeleton1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA15702972
    GO:0005829cytosol IEA--
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0031965nuclear membrane ----

    Find genes that share ontologies with PLCH1           About GenesLikeMe


    (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 PLCH1 About    
    See pathways by source

    SuperPathContained pathways About
    1Inositol phosphate metabolism (KEGG)
    superpathway of inositol phosphate compounds0.60
    D-myo-inositol-5-phosphate metabolism0.00
    D-myo-inositol (1,4,5)-trisphosphate biosynthesis0.36
    2Inositol phosphate metabolism (REACTOME)
    Inositol phosphate metabolism0.59
    Synthesis of IP3 and IP4 in the cytosol0.59
    3Metabolism
    Metabolism0.38
    4phospholipases
    phospholipases0.34
    5Proton Pump Inhibitor Pathway, Pharmacodynamics
    Proton Pump Inhibitor Pathway, Pharmacodynamics


    Find genes that share SuperPaths with PLCH1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for PLCH1
        Phospholipase-C Pathway

    4 BioSystems Pathways for PLCH1
        D-myo-inositol-5-phosphate metabolism
    D-myo-inositol (1,4,5)-trisphosphate biosynthesis
    phospholipases
    superpathway of inositol phosphate compounds

    1 Reactome Pathway for PLCH1
        Synthesis of IP3 and IP4 in the cytosol

    1 PharmGKB Pathway for PLCH1
        Proton Pump Inhibitor Pathway, Pharmacodynamics

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PLCH1
    Interactions:

        Search GeneGlobe Interaction Network for PLCH1

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

    Selected Interacting proteins for PLCH1 (Q4KWH83 ENSP000003459884) via UniProtKB, MINT, STRING, and/or I2D (see all 36)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EGFRP005333, ENSP000002754934I2D: score=1 STRING: ENSP00000275493
    ITPKAENSP000002603864STRING: ENSP00000260386
    ITPKBENSP000002721174STRING: ENSP00000272117
    ITPKCENSP000002633704STRING: ENSP00000263370
    CCNCENSP000003582224STRING: ENSP00000358222
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process ----
    GO:0007165signal transduction ----
    GO:0016042lipid catabolic process IEA--
    GO:0035556intracellular signal transduction ----
    GO:0043647inositol phosphate metabolic process TAS--

    Find genes that share ontologies with PLCH1           About GenesLikeMe



    (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 

    Compounds for PLCH1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    FIPIPhospholipase D inhibitor[939055-18-2]
    m-3M3FBSPhospholipase C activator[200933-14-8]
    Edelfosine Selective PI-PLC inhibitor, also PAF receptor agonist [77286-66-9]
    U 73343Inactive analog of U 73122 (Cat. No. 1268)[142878-12-4]
    D609Selective PC-PLC inhibitor[83373-60-8]

    Selected HMDB Compounds for PLCH1 (see all 1223)    About this table
    CompoundSynonyms CAS #PubMed Ids
    DG(16:0e/18:0/0:0)2-Octadecanoyl-1-hexadecyl-sn-glycerol (see all 2)--12486725
    CalciumCa (see all 2)7440-70-2--
    DG(14:0/14:0/0:0)DAG(14:0/14:0) (see all 9)----
    DG(14:0/14:1(9Z)/0:0)DAG(14:0/14:1) (see all 15)----
    DG(14:0/15:0/0:0)Diacylglycerol(29:0) (see all 9)----
    DG(14:0/16:0/0:0)DAG(30:0) (see all 9)----
    DG(14:0/16:1(9Z)/0:0)DG(30:1) (see all 15)----
    DG(14:0/18:0/0:0)DG(14:0/18:0) (see all 9)----
    DG(14:0/18:1(11Z)/0:0)Diacylglycerol (see all 15)----
    DG(14:0/18:1(9Z)/0:0)1-myristoyl-2-oleoyl-sn-glycerol (see all 15)----



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PLCH1 gene (3 alternative transcripts): 
    NM_001130960.1  NM_001130961.1  NM_014996.2  

    Unigene Cluster for PLCH1:

    Phospholipase C, eta 1
    Hs.567423  [show with all ESTs]
    Unigene Representative Sequence: NM_001130961
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000494598 ENST00000460012 ENST00000447496 ENST00000340059 ENST00000469040
    ENST00000334686(uc021xgf.1) ENST00000414191(uc021xgd.1 uc021xge.1)

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate PLCH1 (see all 25):
    hsa-miR-411* hsa-miR-3685 hsa-miR-495 hsa-miR-379* hsa-miR-520d-5p hsa-miR-2110 hsa-miR-128 hsa-miR-944
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    GenScript: all cDNA clones in your preferred vector (see all 3): PLCH1 (NM_014996)
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      QuantiFast Probe-based Assays in human, mouse, rat PLCH1

    Additional mRNA sequence: 

    AB028992.1 AK022610.1 AK093601.1 AK096620.1 AY691170.1 AY691171.1 BC043248.2 BC113950.1 
    CR749869.1 

    8 DOTS entries:

    DT.210190  DT.91980796  DT.100745056  DT.95267141  DT.120856176  DT.99927687  DT.40293616  DT.95255241 

    Selected AceView cDNA sequences (see all 47):

    AA912422 AK022610 AK093601 CR749869 CD243832 BM925474 BC043248 BM722602 
    AI860667 AB028992 AW665865 Z45541 BM564272 BM975788 BI460541 BM728523 
    BU742547 BM729274 AW969480 AA503363 AA629266 BI561223 CD642760 AK096620 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for PLCH1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22
    SP1:                                                                                                                                          
    SP2:                                                                                                                          -               
    SP3:                                                                                                              -           -     -         


    ECgene alternative splicing isoforms for PLCH1

    (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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    PLCH1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAATATAAT
    PLCH1 Expression
    About this image


    PLCH1 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
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Ovary (Reproductive System)
             Pre-Granulosa Cells Primordial Follicle
     
     Spinal Cord (Nervous System)
    PLCH1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PLCH1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.567423

    UniProtKB/Swiss-Prot: PLCH1_HUMAN, Q4KWH8
    Tissue specificity: Expressed in brain and to a lower extent in lung. In brain, it is found in cerebrum,
    cerebellum and spinal cord

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

    Orthologs for PLCH1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Plch11 , 5 phospholipase C, eta 11, 5 85.47(n)1
    86.76(a)1
      3 (30.08 cM)5
    2694371  NM_183191.31  NP_899014.21 
     636962345 
    chicken
    (Gallus gallus)
    Aves PLCH11 phospholipase C, eta 1 67.98(n)
    68.29(a)
      425030  XM_004943563.1  XP_004943620.1 
    lizard
    (Anolis carolinensis)
    Reptilia PLCH16
    phospholipase C, eta 1
    84(a)
    1 ↔ 1
    3(15882641-16046413)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.187572 Transcribed sequence with weak similarity to protein more 79.81(n)    AL885390.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5664791 novel protein similar to H.sapiens PLCH1, phospholipase more 61.37(n)
    61.46(a)
      566479  XM_689749.5  XP_694841.5 


    ENSEMBL Gene Tree for PLCH1 (if available)
    TreeFam Gene Tree for PLCH1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PLCH1 gene
    PLCD42  PLCD12  PLCB22  PLCZ12  PLCB32  PLCD32  PLCH22  PLCB12  
    PLCB42  PLCL22  PLCL12  
    4 SIMAP similar genes for PLCH1 using alignment to 1 protein entry:     PLCH1_HUMAN:
    FLJ00414    PLCH2    PLCD4    PLCD3

    Find genes that share paralogs with PLCH1           About GenesLikeMe



    (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 PLCH1 (see all 4548)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs782989691,2
    F--155197196(+) ACCCCC/GAACCT 3 -- ds50011Minor allele frequency- G:0.06WA 118
    rs1505453781,2
    --155197276(+) ACATTA/GCAAAG 3 -- ds50010--------
    rs1901716891,2
    --155197342(+) TCCCCC/GACCCA 3 -- ds50010--------
    rs738748141,2
    C,F--155197407(+) CAACCA/GGTTCA 3 -- ds50012Minor allele frequency- G:0.12WA 120
    rs1827696831,2
    --155197582(+) TTGTCA/GCAAAC 3 -- ds50010--------
    rs1159731421,2
    C,F--155197614(+) GCTGAG/CTGCTT 3 -- ds50011Minor allele frequency- C:0.02NA 120
    rs1867756361,2
    C--155197626(+) AACTCA/GATAGT 3 -- ds50010--------
    rs1395048291,2
    --155197722(+) CATCAG/TTGCAG 3 -- ut310--------
    rs352403791,2
    C--155197737(+) AAAAA-/ACAAAG 3 -- ut311Minor allele frequency- A:0.50NA 2
    rs1496848951,2
    --155197760(+) AGGGAC/TATCTG 3 -- ut310--------

    HapMap Linkage Disequilibrium report for PLCH1 (155093369 - 155343369 bp, first 250kb of PLCH1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PLCH1 (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2205471CNV Deletion18987734
    esv2662421CNV Deletion23128226
    dgv829e201CNV Deletion23290073
    esv2726089CNV Deletion23290073
    esv2441511CNV Deletion19546169
    esv1066703CNV Deletion17803354
    esv2726087CNV Deletion23290073
    esv2587266CNV Deletion19546169
    esv1964556CNV Deletion18987734
    esv269011CNV Insertion20981092

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PLCH1
    DNA2.0 Custom Variant and Variant Library Synthesis for PLCH1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612835    OMIM disorders: --


    Find genes that share disorders with PLCH1           About GenesLikeMe

    Genetic Association Database (GAD): PLCH1
    Human Genome Epidemiology (HuGE) Navigator: PLCH1 (3 documents)

    Export disorders for PLCH1 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 PLCH1 gene, integrated from 10 sources (see all 23):
    (articles sorted by number of sources associating them with PLCH1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and characterization of a novel phospholipase C, PLC-eta. (PubMed id 15702972)1, 2, 3 Hwang J.-I.... Suh P.-G. (Biochem. J. 2005)
    2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10470851)1, 2 Kikuno R.... Ohara O. (DNA Res. 1999)
    5. Association between polymorphisms in COMT, PLCH1, and CYP17A1, and non-small-cell lung cancer risk in Chinese nonsmokers. (PubMed id 22658813)1 Zhang Y....Wenlong B. (Clin Lung Cancer 2013)
    6. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. (PubMed id 23382691)1 Lauc G....Rudan I. (PLoS Genet. 2013)
    7. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    8. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    9. Mechanism of HIV-1-TAT induction of interleukin-1beta from human monocytes: Involvement of the phospholipase C/protein kinase C signaling cascade. (PubMed id 20336759)1 Yang Y....Lu Y. (J. Med. Virol. 2010)
    10. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (Anal. Chem. 2009)

    (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: 23007 HGNC: 29185 AceView: PLCL3 Ensembl:ENSG00000114805 euGenes: HUgn23007
    ECgene: PLCH1 H-InvDB: PLCH1

    (According to HUGE)
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    HUGE: KIAA1069

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PLCH1 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 PLCH1 gene:
    Search GeneIP for patents involving PLCH1

    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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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