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PLCD1 Gene

protein-coding   GIFtS: 69
GCID: GC03M038023

Phospholipase C, Delta 1

  See related diseases
at  

(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, Delta 11 2     EC 3.1.4.113 8
Phosphoinositide Phospholipase C-Delta-12 3     NDNC32 5
Phospholipase C-III2 3     1-Phosphatidylinositol 4,5-Bisphosphate Phosphodiesterase Delta-12
PLC-III2 3     1-Phosphatidylinositol-4,5-Bisphosphate Phosphodiesterase Delta-12
PLC-delta-12 3     Phospholipase C-Delta-13

External Ids:    HGNC: 90601   Entrez Gene: 53332   Ensembl: ENSG000001870917   OMIM: 6021425   UniProtKB: P511783   

Export aliases for PLCD1 gene to outside databases

Previous GC identifers: GC03M037350 GC03U900338 GC03M038009


(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 PLCD1 Gene:
This gene encodes a member of the phospholipase C family. Phospholipase C isozymes play critical roles in
intracellular signal transduction by catalyzing the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2)
into the second messengers diacylglycerol (DAG) and inositol triphosphate (IP3). The encoded protein functions as
a tumor suppressor in several types of cancer, and mutations in this gene are a cause of hereditary leukonychia.
Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. (provided
by RefSeq, Dec 2011)

GeneCards Summary for PLCD1 Gene:
PLCD1 (phospholipase C, delta 1) is a protein-coding gene. Diseases associated with PLCD1 include leukonychia totalis, and nail disease. 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: PLCD1_HUMAN, P51178
Function: The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate
(IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. Essential for trophoblast
and placental development

summary for PLCD1 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.

Gene Wiki entry for PLCD1 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_000003.12  NC_018914.2  NT_022517.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the PLCD1 gene promoter:
         p53   RelA   NF-kappaB1   NF-kappaB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPLCD1 promoter sequence
   Search Chromatin IP Primers for PLCD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PLCD1


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

Entrez Gene cytogenetic band: 3p22-p21.3   Ensembl cytogenetic band:  3p22.2   HGNC cytogenetic band: 3p22-p21.3

PLCD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PLCD1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M038023:  view genomic region     (about GC identifiers)

Start:
38,048,987 bp from pter      End:
38,071,253 bp from pter
Size:
22,267 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PLCD1_HUMAN, P51178 (See protein sequence)
Recommended Name: 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1  
Size: 756 amino acids; 85665 Da
Cofactor: Binds 3 calcium ions per subunit. Two of the calcium ions are bound to the C2 domain (By similarity)
Secondary accessions: B3KR14 Q86VN8
Alternative splicing: 2 isoforms:  P51178-1   P51178-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PLCD1: NX_P51178

Explore proteomics data for PLCD1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PLCD1 (P51178) (see all 9)
     VALNFQT  KGCRCLE  CGYVLKP  SSHNTYL 


    See PLCD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001124436.1  NP_006216.2  

    ENSEMBL proteins: 
     ENSP00000430344   ENSP00000335600  
    Reactome Protein details: P51178

    PLCD1 Human Recombinant Protein Products:

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    Novus Biologicals PLCD1 Protein
    Novus Biologicals PLCD1 Lysate
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (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: PLCdelta1
    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 P51178

    ProtoNet protein and cluster: P51178

    3 Blocks protein domains:
    IPB000008 C2 domain
    IPB000909 Phosphatidylinositol-specific phospholipase C
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: PLCD1_HUMAN, P51178
    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


    PLCD1 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: PLCD1_HUMAN, P51178
    Function: The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate
    (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. Essential for trophoblast
    and placental development
    Catalytic activity: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1D-myo-inositol 1,4,5-trisphosphate
    + diacylglycerol

         Genatlas biochemistry entry for PLCD1:
    phospholipase C,delta 1,involved in signal transduction

         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 ----
         
    PLCD1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PLCD1:
     Increased G2M DNA content 

         9 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Plcd1):
     cellular  endocrine/exocrine gland  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  integument  reproductive system  tumorigenesis 

    PLCD1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Plcd1tm1Tta for PLCD1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PLCD1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PLCD1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PLCD1

    miRNA
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    miRTarBase miRNAs that target PLCD1:
    hsa-mir-335-5p (MIRT018905)

    Block miRNA regulation of human, mouse, rat PLCD1 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate PLCD1:
    hsa-miR-191 hsa-miR-15a hsa-miR-497 hsa-miR-424 hsa-miR-195 hsa-miR-16 hsa-miR-1827 hsa-miR-15b
    SwitchGear 3'UTR luciferase reporter plasmidPLCD1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PLCD1
    Predesigned siRNA for gene silencing in human, mouse, rat PLCD1

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for PLCD1

    Clone
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    OriGene clones in human, mouse for PLCD1 (see all 12)
    OriGene ORF clones in mouse, rat for PLCD1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): PLCD1 (NM_001130964)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PLCD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PLCD1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLCD1


    (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 COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol2
    nucleus2
    cytoskeleton1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA15702972
    GO:0005829cytosol IEA--
    GO:0005886plasma membrane TAS--
    GO:0070062extracellular vesicular exosome IDA19056867

    PLCD1 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 PLCD1 About   (see all 34)  
    See pathways by source

    SuperPathContained pathways About
    1Inositol phosphate metabolism (KEGG)
    Inositol phosphate metabolism0.61
    D-myo-inositol (1,4,5)-trisphosphate biosynthesis0.36
    Phosphatidylinositol signaling system0.61
    D-myo-inositol-5-phosphate metabolism0.00
    superpathway of inositol phosphate compounds0.60
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3phospholipases
    phospholipases0.34
    Anandamide biosynthesis and metabolism0.34
    4Sweet Taste Signaling
    Sweet Taste Signaling0.72
    Cellular Effects of Sildenafil0.46
    Melatonin Signaling0.72
    Sperm Motility0.37
    5Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PLCD1 (see all 38)
        Antioxidant Action of Vitamin-C
    Intracellular Calcium Signaling
    Aldosterone Signaling in Epithelial Cells
    UVA-Induced MAPK Signaling
    PACAP Signaling

    4 GeneGo (Thomson Reuters) Pathways for PLCD1
        Anandamide biosynthesis and metabolism
    G-protein signaling Rap1A regulation pathway
    Cytoskeleton remodeling RalB regulation pathway
    Development Activation of ERK by Alpha-1 adrenergic receptors

    5 BioSystems Pathways for PLCD1
        Myometrial Relaxation and Contraction Pathways
    D-myo-inositol-5-phosphate metabolism
    D-myo-inositol (1,4,5)-trisphosphate biosynthesis
    phospholipases
    superpathway of inositol phosphate compounds

    1 Reactome Pathway for PLCD1
        Synthesis of IP3 and IP4 in the cytosol

    1 PharmGKB Pathway for PLCD1
        Proton Pump Inhibitor Pathway, Pharmacodynamics

    5 Kegg Pathways  (Kegg details for PLCD1):
        Inositol phosphate metabolism
    Metabolic pathways
    Calcium signaling pathway
    Phosphatidylinositol signaling system
    Thyroid hormone signaling pathway


    PLCD1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PLCD1
    Interactions:

        GeneGlobe Interaction Network for PLCD1

    Selected Interacting proteins for PLCD1 (P511782, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KPNB1Q149742, 3MINT-62860 MINT-62861 MINT-62859 MINT-62862 I2D: score=2 
    TGM2P219802, 3MINT-15193 I2D: score=4 
    CALM1P621583I2D: score=2 
    CALM2P621583I2D: score=2 
    CALM3P621583I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IEA--
    GO:0006629lipid metabolic process ----
    GO:0006644phospholipid metabolic process TAS9588182
    GO:0007165signal transduction ----
    GO:0016042lipid catabolic process IEA--

    PLCD1 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 

    Compounds for PLCD1 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 PLCD1 (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)----

    2 DrugBank Compounds for PLCD1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    D-Myo-Inositol-1,4,5-Triphosphate-- --target--17139284 17016423 10592235
    D-Myo-Inositol-2,4,5-Trisphosphate-- --target--17139284 17016423 10592235

    Selected Novoseek inferred chemical compound relationships for PLCD1 gene (see all 16)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pip2 80.2 14 7890667 (3), 8810295 (2), 8798711 (2), 1334430 (1)
    pl-cs 77.6 1 7893368 (1)
    inositol 1,4,5 trisphosphate 70.7 7 18665913 (1), 16246104 (1), 8294445 (1), 7479822 (1) (see all 7)
    phosphatidylinositol 52.6 7 8810295 (2), 8798711 (2), 12761218 (1)
    inositol 49.2 2 9417098 (1), 10785396 (1)
    phospholipid 47.1 9 18359940 (2), 8387776 (2), 8942652 (1), 8519781 (1) (see all 6)
    phosphatidylcholine 47 8 10419523 (3), 12576304 (1), 1334430 (1)
    phosphoinositide 46.1 4 9920735 (1), 12576304 (1), 12771127 (1)
    spermine 35.9 7 9251249 (4), 8435099 (1), 9360711 (1)
    phosphatidylserine 35.9 6 10419523 (4), 1334430 (1)



    PLCD1 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,
    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 PLCD1 gene (2 alternative transcripts): 
    NM_001130964.1  NM_006225.3  

    Unigene Cluster for PLCD1:

    Phospholipase C, delta 1
    Hs.80776  [show with all ESTs]
    Unigene Representative Sequence: NR_024071
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000417185 ENST00000461445 ENST00000463876(uc003chm.3) ENST00000334661(uc003chn.3)
    ENST00000495395 ENST00000484829 ENST00000495367 ENST00000479619 ENST00000473834

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    8 qRT-PCR Assays for microRNAs that regulate PLCD1:
    hsa-miR-191 hsa-miR-15a hsa-miR-497 hsa-miR-424 hsa-miR-195 hsa-miR-16 hsa-miR-1827 hsa-miR-15b
    SwitchGear 3'UTR luciferase reporter plasmidPLCD1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): PLCD1 (NM_001130964)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PLCD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PLCD1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for PLCD1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PLCD1
      QuantiTect SYBR Green Assays in human, mouse, rat PLCD1
      QuantiFast Probe-based Assays in human, mouse, rat PLCD1

    Additional mRNA sequence: 

    AB209862.1 AK090774.1 AK098690.1 AK127813.1 AK292324.1 BC050382.1 NR_024071.1 U09117.1 

    10 DOTS entries:

    DT.100778614  DT.313996  DT.97772899  DT.100778609  DT.91923269  DT.100657786  DT.97842902  DT.100733962 
    DT.120876807  DT.120876812 

    Selected AceView cDNA sequences (see all 131):

    AI082772 BI828021 BX647927 BX103148 BM720447 BP364646 BI489731 AL110443 
    BQ277711 BU859101 BM696836 BQ183440 CD368894 BM707524 BM921968 AI473335 
    AK090774 BI769983 CR613815 BQ647520 BU625195 AL705006 CD368470 BQ001499 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PLCD1 (see all 10)    About this scheme

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

    ExUns: 14a · 14b ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18
    SP1:              -                                 
    SP2:              -                                 
    SP3:                                                
    SP4:                                                
    SP5:                                                


    ECgene alternative splicing isoforms for PLCD1

    (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)
    About This Section

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    PLCD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGGGACAGG
    PLCD1 Expression
    About this image


    PLCD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Renal Collecting Duct System
     
     Germ Cells (Reproductive System)
             Primordial germ cell-like cells
     
     Gonad
             Primordial germ cell-like cells
    PLCD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PLCD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.80776
        Custom PCR Arrays for PLCD1
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLCD1

    (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 eukaryotes.

    Orthologs for PLCD1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Plcd11 , 5 phospholipase C, delta 11, 5 86.44(n)1
    90.74(a)1
      9 (71.32 cM)5
    187991  NM_019676.21  NP_062650.11 
     1190715275 
    chicken
    (Gallus gallus)
    Aves PLCD11 phospholipase C, delta 1 68.56(n)
    68.39(a)
      420416  XM_418522.4  XP_418522.2 
    lizard
    (Anolis carolinensis)
    Reptilia PLCD16
    phospholipase C, delta 1
    67(a)
    1 ↔ 1
    6(1082904-1127895)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia plcd11 phospholipase C, delta 1 66.58(n)
    64.62(a)
      100488677  XM_004915595.1  XP_004915652.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj78d102 wufj78d10 76.27(n)   337489  BC051157.1 
    rice
    (Oryza sativa)
    Liliopsida Os05g01272001 Os05g0127200 47.79(n)
    37.21(a)
      4337686  NM_001061066.1  NP_001054531.1 


    ENSEMBL Gene Tree for PLCD1 (if available)
    TreeFam Gene Tree for PLCD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for PLCD1 gene
    PLCD42  PLCB22  PLCZ12  PLCH12  PLCB32  PLCD32  PLCH22  PLCB12  
    PLCB42  PLCL12  PLCL22  
    9 SIMAP similar genes for PLCD1 using alignment to 1 protein entry:     PLCD1_HUMAN:
    DKFZp686K101    PLCD3    PLCD4    PLCL2    PLCZ1    PLCL1
    PLCB1    PLCB2    PLCB4

    PLCD1 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), 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 PLCD1 (see all 737)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0664004
    Nail disorder, non-syndromic congenital, 3 (NDNC3)4--see VAR_0664002 I T mis40--------
    VAR_0663994
    Nail disorder, non-syndromic congenital, 3 (NDNC3)4--see VAR_0663992 T R mis40--------
    rs1403267001,2
    C--37980651(+) GGCCAC/TGTGGA 3 -- ds50011Minor allele frequency- T:0.00NA 4552
    rs1997896661,2
    C--37980661(+) AGGCAA/GCGGCA 3 -- ds50010--------
    rs1415208661,2
    C--37980707(+) CCCTCG/TCGACT 3 -- ds50010--------
    rs1463343641,2
    C--37980708(+) CCTCTC/TGACTG 3 -- ds50010--------
    rs3773528841,2
    C--37980736(+) CCAACA/GTACCT 3 -- ds50010--------
    rs738254591,2
    C,F--37980825(+) CCATAC/GGAGCT 3 -- ds50013Minor allele frequency- G:0.06WA CSA 122
    rs2007270351,2
    C--37981373(+) AGGGCC/TCAGCC 3 -- ut31 nc-transcript-variant0--------
    rs2000856031,2
    C--37981394(+) GGACCA/CCACTG 3 -- ut31 nc-transcript-variant0--------

    HapMap Linkage Disequilibrium report for PLCD1 (38048987 - 38071253 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for PLCD1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508911CNV Insertion20534489
    nsv428416CNV Loss18775914
    nsv522354CNV Loss19592680
    nsv509821CNV Loss20534489
    nsv822058CNV Gain20364138
    dgv1448e1CNV Complex17122850
    dgv1447e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): PLCD1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PLCD1
    DNA2.0 Custom Variant and Variant Library Synthesis for PLCD1

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

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    OMIM gene information: 602142   
    OMIM disorders: 151600  
    UniProtKB/Swiss-Prot: PLCD1_HUMAN, P51178
  • Nail disorder, non-syndromic congenital, 3 (NDNC3) [MIM:151600]: A nail disorder characterized by a white
    appearance of the nail plate (true leukonychia), the nail bed (pseudoleukonychia), or neither (apparent
    leukonychia). Leukonychia may involve all of the nail (leukonychia totalis) or only part of the nail (leukonychia
    partialis), or can appear as one or more transverse bands (leukonychia striata) or white spots (leukonychia
    punctata). Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for PLCD1 (see all 22):    
    About MalaCards
    leukonychia totalis    nail disease    neurologic diseases    insulinoma
    glioblastoma multiforme    esophageal squamous cell carcinoma    cholera    huntington's disease
    hiv-1    chronic myeloid leukemia    esophagitis    hypertension
    squamous cell carcinoma    kidney disease    alzheimer's disease    myeloid leukemia
    multiple myeloma    myeloma    breast cancer    neuronitis

    1 disease from the University of Copenhagen DISEASES database for PLCD1:
    Nail disease

    PLCD1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for PLCD1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 3.79 2 8435099 (1), 19448674 (1)

    Genetic Association Database (GAD): PLCD1
    Human Genome Epidemiology (HuGE) Navigator: PLCD1 (8 documents)

    Export disorders for PLCD1 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 PLCD1 gene, integrated from 10 sources (see all 135):
    (articles sorted by number of sources associating them with PLCD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and identification of amino acid residues of human phospholipase C delta 1 essential for catalysis. (PubMed id 7890667)1, 2, 9 Cheng H.F....King K. (J. Biol. Chem. 1995)
    2. Genomic structure of the human PLCD1 (phospholipase C delta 1) locus on 3p22--&gt;p21.3. (PubMed id 9345909)1, 3, 9 Ishikawa S....Nakamura Y. (Cytogenet. Cell Genet. 1997)
    3. Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1. (PubMed id 21665001)1, 2 Kiuru M....Christiano A.M. (Am. J. Hum. Genet. 2011)
    4. Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients. (PubMed id 20398908)1, 4 Saus E....Estivill X. (J Psychiatr Res 2010)
    5. 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)
    6. Polymorphisms in innate immunity genes and patients response to dendritic cell-based HIV immuno-treatment. (PubMed id 20056178)1, 4 Segat L....Crovella S. (Vaccine 2010)
    7. Association of genetic variants with chronic kidney disease in individuals with different lipid profiles. (PubMed id 19578796)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2009)
    8. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. The Pleckstrin homology domains of phospholipases C-beta and -delta confer activation through a common site. (PubMed id 12761218)1, 9 Guo Y....Scarlata S. (J. Biol. Chem. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5333 HGNC: 9060 AceView: PLCD1 Ensembl:ENSG00000187091 euGenes: HUgn5333
    ECgene: PLCD1 Kegg: 5333 H-InvDB: PLCD1

    (According to HUGE)
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      --

    (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 PLCD1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PLCD1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PLCD1 gene:
    Search GeneIP for patents involving PLCD1

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



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