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

PLCH1 Gene

protein-coding   GIFtS: 59
GCID: GC03M155094

Phospholipase C, Eta 1

(Previous name: phospholipase C-like 3)
(Previous symbol: PLCL3)
  Search for PLCH1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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

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. Among its related super-pathways are D-myo-inositol (1,4,5)-trisphosphate biosynthesis and Inositol phosphate metabolism. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_005612.16  NC_018914.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PLCH1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Cytoplasm. Membrane
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q4KWH8

  • 4 DME Specific Peptides for PLCH1 (Q4KWH8)
     CGYVLKP  SSHNTYL  HGYTLTSK  ELSDLVVY 

    PLCH1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PLCH1 Protein Expression
    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
    Human Recombinant Protein Products for PLCH1: 
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    Browse Sino Biological Recombinant Proteins
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (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 IDA--

    PLCH1 for ontologies           About GeneDecksing



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    Browse CLIAs at Cloud-Clone Corp.


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

    IUPHAR Guide to PHARMACOLOGY protein family classification: PLCη1 
    Phosphoinositide-specific phospholipase C

    5/13 InterPro protein domains (see all 13):
     IPR015359 PLipase_C_EF-hand-like
     IPR011992 EF-hand-like_dom
     IPR002048 EF_hand_dom
     IPR001192 Pinositol_PLipase_C
     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


    PLCH1 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    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:0005543phospholipid binding IEA--
         
    PLCH1 for ontologies           About GeneDecksing


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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for PLCH1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PLCH1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PLCH1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PLCH1 

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidPLCH1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLCH1


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PLCH1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Anandamide biosynthesis and metabolism
    D-myo-inositol-5-phosphate metabolism0.50
    phospholipases0.34
    D-myo-inositol (1,4,5)-trisphosphate biosynthesis0.50
    2Synthesis of IP3 and IP4 in the cytosol
    Synthesis of IP3 and IP4 in the cytosol0.57
    Inositol phosphate metabolism0.57
    3Inositol phosphate metabolism
    superpathway of inositol phosphate compounds0.60
    4Metabolism
    Metabolism0.40
    5Proton Pump Inhibitor Pathway, Pharmacodynamics
    Proton Pump Inhibitor Pathway, Pharmacodynamics

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    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

    3        Reactome Pathways for PLCH1
        Metabolism
    Inositol phosphate metabolism
    Synthesis of IP3 and IP4 in the cytosol

    1 PharmGKB Pathway for PLCH1
        Proton Pump Inhibitor Pathway, Pharmacodynamics


    PLCH1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PLCH1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/11 Interacting proteins for PLCH1 (Q4KWH83 ENSP000003459884) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EGFRP005333, ENSP000002754934I2D: score=1 STRING: ENSP00000275493
    IPMKENSP000003630464STRING: ENSP00000363046
    ITPKAENSP000002603864STRING: ENSP00000260386
    ITPKBENSP000002721174STRING: ENSP00000272117
    ITPKCENSP000002633704STRING: ENSP00000263370
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (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--

    PLCH1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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]

    10/1223 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)----

    Search CenterWatch for drugs/clinical trials and news about PLCH1

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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)

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    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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    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 

    24/47 AceView cDNA sequences (see all 47):

    AB028992 BM925474 BC043248 CR749869 BM722602 AA912422 AK022610 AI860667 
    CD243832 AK093601 AW665865 CD642760 BM975788 AA503363 BU742547 BM682185 
    BI828261 AW955365 BM729274 BM564272 AW969480 BI561223 Z45541 BI460541 

    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™, 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

    PLCH1 expression in normal human tissues (normalized intensities)      PLCH1 embryonic expression: see
    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 
     5/3 selected tissues (see all 3) fully expand
     
     Ovary (Reproductive System)
             Pre-Granulosa Cells Primordial Follicle
     
     Inner Cell Mass (Early Embryonic Tissues)
             Line H9 (WA09)
     
     Spinal Cord (Nervous System)

     -- (Nervous System)
             mouse/organ system/nervous system/central nervous system   

    See PLCH1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PLCH1

    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PLCH1 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Plch11 , 5 phospholipase C, eta 11, 5 85.56(n)1
    86.71(a)1
      3 (30.08 cM)5
    2694371  NM_183191.31  NP_899014.21 
     636962345 
    chicken
    (Gallus gallus)
    Aves PLCH11 phospholipase C, eta 1 68.56(n)
    69.03(a)
      425030  XM_422832.3  XP_422832.3 
    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 62.84(n)
    63.72(a)
      566479  XM_689749.4  XP_694841.4 
    worm
    (Caenorhabditis elegans)
    Secernentea plc-46
    Protein PLC-4
    31(a)
    1 → many
    IV(7509465-7512673)
    rice
    (Oryza sativa)
    Liliopsida Os05g01272001 hypothetical protein 45.62(n)
    36.87(a)
      4337686  NM_001061066.1  NP_001054531.1 


    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)
    About This Section
    Paralogs for PLCH1 gene
    PLCD42  PLCD12  PLCE12  PLCB22  PLCZ12  PLCB32  PLCD32  PLCH22  
    PLCB12  PLCB42  PLCL12  PLCL22  
    4 SIMAP similar genes for PLCH1 using alignment to 1 protein entry:     PLCH1_HUMAN:
    FLJ00414    PLCH2    PLCD4    PLCD3

    PLCH1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) 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

    10/4548 SNPs in PLCH1 are shown (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) 10/16 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

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    (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.)
    About This Section

    PLCH1 for disorders           About MalaCards
    OMIM gene information: 612835    OMIM disorders: --


    PLCH1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for PLCH1 gene, integrated from 9 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. (2005)
    2. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (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. (2013)
    6. Loci associated with N-glycosylation of human immunogl obulin G show pleiotropy with autoimmune diseases and haematological cancers. (PubMed id 23382691)1 Lauc G....Rudan I. (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. (2011)
    8. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    9. Mechanism of HIV-1-TAT induction of interleukin-1beta from human monocytes: Involvement of the phospholipase C/protein kinase C sign aling cascade. (PubMed id 20336759)1 Yang Y....Lu Y. (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. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

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

    (According to HUGE)
    About This Section
    HUGE: KIAA1069

    (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 PLCH1 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 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



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